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showing 10 items of 13546 documents

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hyper…

2023

Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as p…

ACMG/AMP criteria variants in collagen genes joint hypermobilityGeneticsACMG/AMP criteriacollagen geneshereditary connective tissue disorders (HCTD)Settore MED/03 - GENETICA MEDICAhereditary connective tissue disorders (HCTD) ACMG/AMP criteria collagen genesGenetics (clinical)Human Genetics
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SANTABARBARA HOSPITAL

2015

Progetto selezionato ADI DESIGN INDEX 2015 e candidato al compasso d'oro 2016. Corporate image/identity e supporti di wayfinding per struttura ospedaliera a Gela. Il progetto comunicativo si innesta in un ampio programma di trasformazione della clinica che ha interessato la riorganizzazione interna dei servizi – la Clinica, gli Ambulatori, la Diagnostica e la nuova Residenza Sanitaria Assistita (RSA) – l’ammodernamento dell’edificio, l’efficientamento delle modalità operative e dei protocolli per l’erogazione dei servizi, oltre che al normale e continuo aggiornamento del personale e all’adeguamento delle attrezzature. All’interno di questo processo dinamico, che mira al consolidamento di un…

ADI DESIGN INDEX 2015 COMPASSO D'ORO 2016 CORPORATE IDENTITY HOSPITAL WAYFINDING LOGOTIPO NAMING COMMUNICATION TRASFORMATIONSettore ICAR/14 - Composizione Architettonica E UrbanaSettore ICAR/13 - Disegno IndustrialeADI DESIGN INDEX 2015 COMPASSO D'ORO 2016 CORPORATE IDENTITY OSPEDALE SEGNALETICA INTERNA ED ESTERNA LOGOTIPO NAMING COMUNICAZIONE TRASFORMAZIONE
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Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal

2016

AbstractThe ability to taste phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) is a polymorphic trait mediated by the TAS2R38 bitter taste receptor gene. It has long been hypothesized that global genetic diversity at this locus evolved under pervasive pressures from balancing natural selection. However, recent high-resolution population genetic studies of TAS2Rs suggest that demographic events have played a critical role in the evolution of these genes. We here utilized the largest TAS2R38 database yet analyzed, consisting of 5,589 individuals from 105 populations, to examine natural selection, haplotype frequencies and linkage disequilibrium to estimate the effects of both selectio…

AFRICASELECTION0301 basic medicineLinkage disequilibriumPopulationLocus (genetics)Taste Genetics Evolutionary geneticsBiologyBalancing selectionLinkage DisequilibriumArticleReceptors G-Protein-CoupledEvolution Molecular03 medical and health sciences0302 clinical medicineDatabases GeneticGenetic variationLOCUSHumansPHENYLTHIOCARBAMIDESelection GeneticeducationPOPULATIONVEGETABLESGeneticsGenetic diversityeducation.field_of_studyHUMAN GENETIC DIVERSITY; SENSITIVITY; POPULATION; AFRICA; PTC; PHENYLTHIOCARBAMIDE; VEGETABLES; SELECTION; HUMANS; LOCUSNatural selectionMultidisciplinaryGenetic Variationphenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP)- TAS2R38 haplotypes-natural selectionPhenylthioureaCorrigendaSettore BIO/18 - GeneticaPTC030104 developmental biologyTAS2R38HaplotypesPropylthiouracilTasteHUMAN GENETIC DIVERSITYSENSITIVITY030217 neurology & neurosurgery
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Hypertrophy and ER Stress Induced by Palmitate Are Counteracted by Mango Peel and Seed Extracts in 3T3-L1 Adipocytes

2023

A diet rich in saturated fatty acids (FAs) has been correlated with metabolic dysfunction and ROS increase in the adipose tissue of obese subjects. Thus, reducing hypertrophy and oxidative stress in adipose tissue can represent a strategy to counteract obesity and obesity-related diseases. In this context, the present study showed how the peel and seed extracts of mango (Mangifera indica L.) reduced lipotoxicity induced by high doses of sodium palmitate (PA) in differentiated 3T3-L1 adipocytes. Mango peel (MPE) and mango seed (MSE) extracts significantly lowered PA-induced fat accumulation by reducing lipid droplet (LDs) and triacylglycerol (TAGs) content in adipocytes. We showed that MPE a…

AMPKsaturated fatty acidOrganic ChemistryGeneral MedicineNrf2CatalysisComputer Science ApplicationsInorganic Chemistrymango seed extractSettore BIO/10 - Biochimicamango peel extracts; mango seed extracts; saturated fatty acids; 3T3-L1 adipocytes; ER stress; AMPK; Nrf2ER strePhysical and Theoretical Chemistrymango peel extract3T3-L1 adipocyteMolecular BiologySpectroscopyInternational Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5419
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Monte Carlo simulations of the solid-liquid transition in hard spheres and colloid-polymer mixtures

2010

Monte Carlo simulations at constant pressure are performed to study coexistence and interfacial properties of the liquid-solid transition in hard spheres and in colloid-polymer mixtures. The latter system is described as a one-component Asakura-Oosawa (AO) model where the polymer's degrees of freedom are incorporated via an attractive part in the effective potential for the colloid-colloid interactions. For the considered AO model, the polymer reservoir packing fraction is eta_p^r=0.1 and the colloid-polymer size ratio is q=sigma_p/\sigma=0.15 (with sigma_p and sigma the diameter of polymers and colloids, respectively). Inhomogeneous solid-liquid systems are prepared by placing the solid fc…

ANISOTROPIC SURFACE-TENSIONMaterials scienceMonte Carlo methodDegrees of freedom (physics and chemistry)General Physics and AstronomyThermodynamicsCondensed Matter - Soft Condensed MatterCAPILLARY WAVESAtomic packing factorCOMPUTER-SIMULATIONVAPOR INTERFACE3-DIMENSIONAL ISING-MODELColloidsymbols.namesakePhase (matter)Physical and Theoretical ChemistryCOEXISTING PHASESchemistry.chemical_classificationCondensed Matter - Materials ScienceINTERFACIAL FREE-ENERGYPROFILESHard spheresPolymerCondensed Matter::Soft Condensed MatterchemistryCRYSTAL-MELT INTERFACESBoltzmann constantsymbolsCRYSTALLIZATIONThe Journal of Chemical Physics
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Large numbers of cold positronium atoms created in laser-selected Rydberg states using resonant charge exchange

2016

Lasers are used to control the production of highly excited positronium atoms (Ps*). The laser light excites Cs atoms to Rydberg states that have a large cross section for resonant charge-exchange collisions with cold trapped positrons. For each trial with 30 million trapped positrons, more than 700 000 of the created Ps* have trajectories near the axis of the apparatus, and are detected using Stark ionization. This number of Ps* is 500 times higher than realized in an earlier proof-of-principle demonstration (2004 Phys. Lett. B 597 257). A second charge exchange of these near-axis Ps* with trapped antiprotons could be used to produce cold antihydrogen, and this antihydrogen production is e…

ANTIHYDROGENGeneral PhysicsAntiparticlepositronium0205 Optical Physics0307 Theoretical And Computational ChemistryPLASMASCONFINEMENTPhysics Atomic Molecular & Chemical01 natural sciences010305 fluids & plasmasPositroniumsymbols.namesake0202 Atomic Molecular Nuclear Particle And Plasma PhysicsIonization0103 physical sciencesPhysics::Atomic and Molecular ClustersPhysics::Atomic Physics010306 general physicsAntihydrogenpositronsPhysicsCondensed Matter::Quantum GasesScience & TechnologyPhysicsOpticsRydberg statesCondensed Matter PhysicsAtomic and Molecular Physics and Opticscharge-exchangeExcited stateAntimatterPhysical SciencesRydberg formulasymbolsAtomic physicsLepton
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Comparison of 3 ionisation methods - electron ionisation, chemical ionisation and atmospheric pressure photoionisation - for the characterisation of …

2021

International audience; Gas chromatography (GC) is a reproducible, robust, selective and sensitive method to analyse volatile organic compounds (VOCs) in a wide range of applications. The separated analytes are generally characterised by mass spectrometry (MS) under vacuum conditions. The main ionisation method is the Electron Ionisation (EI): high energy exchanges occur, causing reproducible molecular fragmentations. Chemical Ionisation (CI) is another ionisation method where a reactive gas (i.e. methane or ammonia) is ionised to form reactant ions. GC-MS can also be conducted under atmospheric pressure. Atmospheric Pressure PhotoIonisation (APPI) is the most recent source [1]. Emitted pho…

APPI[SDV.BIO]Life Sciences [q-bio]/BiotechnologyVOCsCIsensitivityionisation methods[SDV.BIO] Life Sciences [q-bio]/Biotechnology[CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry[SDV.AEN] Life Sciences [q-bio]/Food and Nutrition[CHIM.THEO] Chemical Sciences/Theoretical and/or physical chemistryElvolatile organic compoundschemical ionisation[CHIM]Chemical Sciences[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular Biologyelectron ionisationatmospheric pressure photoionisationGC-MS[SDV.AEN]Life Sciences [q-bio]/Food and NutritionComputingMilieux_MISCELLANEOUS
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Revisiting the Nonadiabatic Process in 1,2-Dioxetane.

2015

Determining the ground and excited-state decomposition mechanisms of 1,2-dioxetane is essential to understand the chemiluminescence and bioluminescence phenomena. Several experimental and theoretical studies has been performed in the past without reaching a converged description. The reason is in part associated with the complex nonadiabatic process taking place along the reaction. The present study is an extension of a previous work (De Vico, L.; Liu, Y.-J.; Krogh, J. W.; Lindh, R. J. Phys. Chem. A 2007, 111, 8013-8019) in which a two-step mechanism was established for the chemiluminescence involving asynchronous O-O' and C-C' bond dissociations. New high-level multistate multi configurati…

Ab initio molecular dynamicschemistry.chemical_compound12-DioxetanechemistryComputational chemistryQuantum mechanicsTheoretical chemistrySinglet statePhysical and Theoretical ChemistryHigh ratioComputer Science ApplicationsJournal of chemical theory and computation
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Low temperature rate coefficients of the H + CH+ → C+ + H2 reaction: New potential energy surface and time-independent quantum scattering

2015

The observed abundances of the methylidyne cation, CH(+), in diffuse molecular clouds can be two orders of magnitude higher than the prediction of the standard gas-phase models which, in turn, predict rather well the abundances of neutral CH. It is therefore necessary to investigate all the possible formation and destruction processes of CH(+) in the interstellar medium with the most abundant species H, H2, and e(-). In this work, we address the destruction process of CH(+) by hydrogen abstraction. We report a new calculation of the low temperature rate coefficients for the abstraction reaction, using accurate time-independent quantum scattering and a new high-level ab initio global potenti…

Ab initio quantum chemistry methodsChemistryScatteringPotential energy surfaceThermochemistryAb initioGeneral Physics and AstronomyThermodynamicsReactivity (chemistry)Scattering theoryPhysical and Theoretical ChemistryAtomic physicsPotential energyThe Journal of Chemical Physics
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Size-consistent ab initio calculation of the electric quadrupole moment of Cl2

2003

Abstract The molecular electric quadrupole moment ( Θ ) of Cl 2 has been calculated using SDCI, and (SC) 2 -SDCI wave functions as well as CCSD, CCSD(T), and CC3 methods. All these correlation methods are single reference. All of them, but SDCI, are free of the size-extensivity error. The variation of Θ from the separated atoms to the equilibrium region is reported. The present results leads to an estimated value of 2.3520 a.u. (10.55 × 10 −40 Cm 2 ) corresponding to a CC(3) calculation at the CBS approach and including the ro-vibrational and thermal averaging corrections. This value is compatible with two experimental values and points to one of them as slightly more reliable.

Ab initio quantum chemistry methodsChemistryThermalQuadrupoleAb initioGeneral Physics and AstronomyCorrelation methodPhysical and Theoretical ChemistryAtomic physicsWave functionBond-dissociation energyDiatomic moleculeChemical Physics Letters
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