The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase

purposeInborn errors of immunity (IEI) represent a heterogeneous group of rare genetically determined diseases. In some cases, patients present with complex or atypical phenotypes, not fulfilling the accepted diagnostic criteria for IEI and, thus, at high risk of misdiagnosis or diagnostic delay. this study aimed to validate a platform that, through the opinion of immunologist experts, improves the diagnostic process and the level of care of patients with atypical/complex IEI.MethodsHere, we describe the functioning of the IEI-Virtual consultation system (VCS), an innovative platform created by the italian Immunodeficiency network (IPINet). resultsIn the validation phase, from January 2020 to June 2021, 68 cases were entered on the IEI-VCS platform. a final diagnosis was achieved in 35/68 cases (51%, 95% CI 38.7 to 64.2). In 22 out of 35 solved cases, the diagnosis was confirmed by genetic analysis. In 3/35 cases, a diagnosis of secondary immunodeficiency was made. In the remaining 10 cases, an unequivocal clinical and immunological diagnosis was obtained, even though not substantiated by genetic analysis. conclusionFrom our preliminary study, the VCS represents an innovative and useful system to improve the diagnostic process of patients with complex unsolved IEI disorders, with benefits both in terms of reduction of time of diagnosis and access to the required therapies. these results may help the functioning of other international platforms for the management of complex cases

Enantioselective separation of amino acids as biomarkers indicating life in extraterrestrial environments

Traces of prebiotic amino acids, i.e., the building blocks of proteins, are excellent biomarkers that could pro-vide evidence of extinct or extant life in extra-terrestrial environments. In particular, characterization of the enantio-meric excess of amino acids gives relevant information about the biotic or abiotic origin of molecules, because it is generally assumed that life elsewhere could be based on eitherLorDamino acids, but not both. The analytical pro-cedures used in in-situ space missions for chiral discrimina-tion of amino acids must meet severe requirements imposed by flight conditions: short analysis time, low energy con-sumption, robustness, storage for long periods under extreme conditions, high efficiency and sensitivity, automation, and remote-control operation. Such methods are based on gas chromatography, high-pressure liquid chromatography, and capillary electrophoresis, usually coupled with mass spec-trometry; of these, gas chromatography–mass spectrometry (GC–MS) is the only such combination yet used in space missions. Preliminary in-situ sample derivatization is required before GC–MS analysis to convert amino acids into volatile and thermally stable compounds. The silylation reagent most commonly used,N-(tert-butyldimethylsilyl)-N-methyltrifluoroacetamide, isunsuitable for detection of homochirality, and alternative derivatization techniques have been developed that preserve the stereochemical configuration of the original compounds and are com-patible with spaceflight conditions. These include the reagent N,N-dimethylformamide dimethylacetal, which has already been used in the Rosetta mission, a mixture of alkyl chloroformate, ethanol, and pyridine, a mixture of perfluorinated anhydrides and perfluoro alcohols, and hexafluoroacetone, the first gaseous derivatizing agent. In all the space instruments, solvent extraction of or-ganic matter and chemical derivatization have been combined in a single automatic and remote-controlled procedure in a chemical reactor. Liquid-based separation systems have been used in space missions. In particular, microchip capillary electrophoresis, based on microfluidic lab-on-a-chip systems, enables high-performance chemical analysis of amino acids with low mass and volume equipment and lowpower and reagent consumption. Couplingwith laser-induced fluorescence detectors results in ultra-low limits of detection. This critical reviewdescribes applications of the on-board instruments used in the Rosetta mission to comets and in the more recent Mars exploration program, i.e., the Mars Science Laboratory and ExoMars missions

Progetto Lauree Scientifiche Chimica

Il Progetto Lauree Scientifiche è stato realizzato presso il Dipartimento di Chimica dell’Università di Ferrara nell'anno scolastico 2009-2010. Si tratta di un progetto nazionale promosso dal Ministero dell’Istruzione, dell’Università e della Ricerca con la collaborazione di Confindustria e della Conferenza nazionale dei presidi delle facoltà scientifiche. Gli obiettivi del progetto sono: • elaborare una serie di azioni per affrontare la disaffezione dei giovani nei confronti delle cosiddette “scienze dure”, Matematica, Fisica, Chimica; • incrementare il numero degli immatricolati ai corsi di laurea di matematica, chimica e fisica, mantenendo un alto standard di qualità degli studenti. Avvalendosi della positiva esperienza acquisita negli anni precedenti, si sono sviluppate 3 azioni principali: -attività di stage, -conferenze su argomenti di ricerca sviluppati al Dipartimento di Chimica, -laboratori e workshop rivolti ad insegnati e studenti delle Scuole Superiori

Gas Chromatography in Space Exploration

Gas chromatography (GC) has proved to be the best analytical technique for the in situ search for organic molecules in extraterrestrial environments since it meets the severe requirements imposed by flight conditions: short analysis time and low energy consumption, robustness, storage for long durations under extreme conditions, high in efficiency and sensitivity, automation, remote control operations. Exploration of our solar system has been fundamentally motivated by the search for chemical biomarkers for evidence of extinct or extant life. GC instruments have been successfully installed on probes of in situ space exploration: the payload also included pyr-GC/MS system composed of a pyrolyzer (pyr) device for analyzing organic compounds in atmosphere and soil at ppb concentration levels. This chapter describes three relevant applications concerning the on-board GC instruments for Cassini–Huygens mission to Titan, Rosetta to Comet P/Churyumov-Gerasimenko and to Mars space exploration program

Progetto Lauree Scientificge - Chimica

none1L’Università di Ferrara ha continuato la partecipazione al Progetto Lauree Scientifiche: esso ha realizzato numerose attività di stage, laboratori e workshop rivolti ad insegnati e studenti delle Scuole Superiori. Esso si riferisce in particolare ai Corsi di Laurea di Matematica, Fisica e Chimica. Nell'ambito della Chimica sono state svolte varie attività: azioni rivolte agli studenti e insegnanti delle scuole superiori, ma anche percorsi di studio universitario, di studio e lavoro dopo la laurea e ricerche per capire quali sono i fabbisogni degli studenti. L’obiettivo è quello di fare “assaggiare” il percorso universitario agli studenti che possono viverci dentro ma anche di fornire un’area di aggiornamento per gli insegnanti che possono rientrare in contatto con il mondo dell’università e della ricerca. I docenti delle scuole superiori si confrontano con i docenti universitari delle singole discipline, scegliendo assieme dei percorsi didattici che poi vengono proposti agli studenti.openPietrogrande M.C.Pietrogrande, Maria Chiar

Synergistic and Antagonistic Effects of Aerosol Components on Its Oxidative Potential as Predictor of Particle Toxicity

Quantifying the component-specific contribution to the oxidative potential (OP) of ambient particle matter (PM) is the key information to properly representing its acute health hazards. In this study, we investigated the interactions between the major contributors to OP, i.e., transition metals and quinones, to highlight the relative effects of these species to the total OP. Several synergistic and antagonistic interactions were found that significantly change the redox properties of their binary mixtures, increasing or decreasing the values computed by a simple additive model. Such results from the standard solutions were confirmed by extending the study to atmospheric PM2.5 samples collected in winter in the Lombardia region, a hot spot for air pollution in northern Italy. This work highlights that a solid estimation of oxidative properties of ambient PM requires an interaction-based approach accounting for the interaction effects between metals and quinones

Progetto Lauree Scientifiche per il Corso di Laurea in Chimica

IL Progetto Lauree Scientifiche è stato realizzato presso il Dipartimento di Chimica dell’Università di Ferrara nell'anno scolastico 2011-2012. Si tratta di un progetto nazionale promosso dal Ministero dell’Istruzione, dell’Università e della Ricerca con la collaborazione di Confindustria e della Conferenza nazionale dei presidi delle facoltà scientifiche. Gli obiettivi del progetto sono: • elaborare una serie di azioni per affrontare la disaffezione dei giovani nei confronti delle cosiddette “scienze dure”, Matematica, Fisica, Chimica; • incrementare il numero degli immatricolati ai corsi di laurea di matematica, chimica e fisica, mantenendo un alto standard di qualità degli studenti. Avvalendosi della positiva esperienza acquisita negli anni precedenti, si sono sviluppate 3 azioni principali: -attività di stage, -conferenze su argomenti di ricerca sviluppati al Dipartimento di Chimica, -laboratori e workshop rivolti ad insegnati e studenti delle Scuole Superiori

Gas Chromatography in Space ExplorationReference Module in Chemistry, Molecular Sciences and Chemical Engineering

Gas chromatography (GC) instruments have been successfully installed on the spatial probes for in situ chemical analyses of planetary atmospheres or surfaces, for searching for chemical biomarkers that could provide evidence of extinct or extant life in space. GC instruments and analytical procedures have been developed in order to meet the severe requirements imposed by flight conditions: short analysis time and low energy consumption, robustness, high efficiency and sensitivity, automation, and remote control operations. The instrument payloads include devices that provide different sample handling and pretreatment prior to GC analysis, such as pyrolysis for thermal volatilization of volatiles or solvent extraction of polar organic compounds. This article describes three recent space missions: Cassini–Huygens to Titan, Rosetta to comet 67P/Churyumov–Gerasimenko, and the Mars space exploration program. The technical data of the onboard GC instruments are given; the results provided by in situ GC analyses are discussed to give information on the chemical composition of the extraterrestrial atmospheres and soils

Progetto Lauree Scientifiche a Unife: attività del Corso di Laurea in Chimica negli anni 2005-2009.

Convegno conclusivo sull’attività svolta nell'ambito del progetto lauree Scientifiche con docenti e studenti che hanno partecipato al progetto negli anni 2005-2009. La relazione riporta un bilancio delle attività svolte nell’ambito del progetto PLS nella Chimica con lo scopo di confrontarsi sulle prospettive future, coinvolgendo studenti e docenti delle Scuole che hanno partecipato alle varie attività

Le competenze e la didattica laboratoriale dalla scuola di base all'università. esempi di orientamento formativo

Nell'ambito di una riflessione sui modelli didattici per favorire un apprendimento significativo, viene riportata un' esperienza di orientamento formativo. In particolare, si descrive l'attività del progetto Lauree Scientifiche del Corso di laurea in Chimica attiva con esperienze di didattica laboratoriale agli studenti delle scuole secondari