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Background Rare diseases are chronic and life-threatening disorders affecting Results To the purpose of our analysis, we considered heart, lung, liver and kidney transplants included in the Transplant Registry (TR) of the Italian National Transplantation Center in the 2002–2019 timeframe. Overall, 49,404 recipients were enrolled in the cohort, 5.1% of whom in the pediatric age. For 40,909 (82.8%) transplant recipients, a disease diagnosis was available, of which 38,615 in the adult cohort, while 8,495 patients (17.2%) were undiagnosed. There were 128 disease categories, and of these, 117 were listed in the main rare disease databases. In the pediatric cohort, 2,294 (5.6%) patients had a disease diagnosis: of the 2,126 (92.7%) patients affected by a rare disease, 1,402 (61.1%) presented with a monogenic condition. As expected, the frequencies of pathologies leading to organ failure were different between the pediatric and the adult cohort. Moreover, the pediatric group was characterized, compared to the adult one, by an overall better survival of the graft at ten years after transplant, with the only exception of lung transplants. When comparing survival considering rare vs non-rare diseases or rare and monogenic vs rare non-monogenic conditions, no differences were highlighted for kidney and lung transplants, while rare diseases had a better survival in liver as opposed to heart transplants. Conclusions This work represents the first national survey analyzing the main genetic causes and frequencies of rare and/or monogenic diseases leading to organ failure and requiring transplantation both in adults and children.

A new experimental-computational strategy for the determination of the absolute configuration (AC) of complex chiral molecules is proposed by combining diverse experimental spectroscopies with quantum-mechanical simulations well beyond the current computational practice. Key features are the conformer search and relative stability evaluation performed by a new stochastic two-level tool followed by a vis-à-vis comparison of experimental and computed spectra without any ad hoc adjustment. The entire computational procedure is embedded in the user-friendly VMS software, and its reliability is granted by the inclusion of mechanic/electric/magnetic anharmonicity as well as ro-vibrational and vibronic couplings by means of generalized perturbation theory in conjunction with double-hybrid functionals combined with empirical dispersion contributions and suitable basis sets. To test and validate the new approach, the puzzling case of diplopyrone, a fungal phytotoxic metabolite, has been chosen: the close match between new experimental and simulated infrared absorption and vibrational circular dichroism spectra has led to the unbiased evaluation of its AC. A new experimental-computational strategy for the determination of the absolute configuration (AC) of complex chiral molecules is proposed by combining diverse experimental spectroscopies with quantum-mechanical simulations well beyond the current computational practice. Key features are the conformer search and relative stability evaluation performed by a new stochastic two-level tool followed by a vis-à-vis comparison of experimental and computed spectra without any ad hoc adjustment. The entire computational procedure is embedded in the user-friendly VMS software, and its reliability is granted by the inclusion of mechanic/electric/magnetic anharmonicity as well as ro-vibrational and vibronic couplings by means of generalized perturbation theory in conjunction with double-hybrid functionals combined with empirical dispersion contributions and suitable basis sets. To test and validate the new approach, the puzzling case of diplopyrone, a fungal phytotoxic metabolite, has been chosen: the close match between new experimental and simulated infrared absorption and vibrational circular dichroism spectra has led to the unbiased evaluation of its AC.

The infrared (IR) and vibrational circular dichroism (VCD) spectra of 2,3-butanediol and trans-1,2-cyclohexanediol from 900 to 7500 cm-1 (including mid-IR, fundamental CH and OH stretchings, and near-infrared regions) have been investigated by a combined experimental and computational strategy. The computational approach is rooted in density functional theory (DFT) computations of harmonic and leading anharmonic mechanical, electrical, and magnetic contributions, followed by a generalized second-order perturbative (GVPT2) evaluation of frequencies and intensities for all the above regions without introducing any ad hoc scaling factor. After proper characterization of large-amplitude motions, all resonances plaguing frequencies and intensities are taken into proper account. Comparison of experimental and simulated spectra allows unbiased assignment and interpretation of the most interesting features. The reliability of the GVPT2 approach for OH stretching fundamentals and overtones is confirmed by the remarkable agreement with a local mode model purposely tailored for the latter two regions. Together with the specific interest of the studied molecules, our results confirm that an unbiased assignment and interpretation of vibrational spectra for flexible medium-size molecules can be achieved by means of a nearly unsupervised reliable, robust, and user-friendly DFT/GVPT2 model.

A straightforward approach to the synthesis of a series of 1,2-disubstituted planar chiral ferrocenes was achieved using the ortho-directed lithiation of chiral ferrocenesulfonamides followed by a reaction with electrophilic reactants. The planar 1,2-functionalized ferrocenesulfonamides were obtained in good yields, and the individual diastereoisomers could be isolated in the pure form. The relative configurations of the chemical groups in positions 1 and 2, which are relevant for the planar chirality, were derived from NMR experiments, and the absolute configuration was determined by X-ray crystallography. Experimental ECD and VCD spectra were recorded, assigned, and interpreted by means of state-of-the-art quantum chemical computations, which allow for an unbiased analysis of the different structural factors that tune the overall spectroscopic features. A straightforward approach to the synthesis of a series of 1,2-disubstituted planar chiral ferrocenes was achieved using the ortho-directed lithiation of chiral ferrocenesulfonamides followed by a reaction with electrophilic reactants. The planar 1,2-functionalized ferrocenesulfonamides were obtained in good yields, and the individual diastereoisomers could be isolated in the pure form. The relative configurations of the chemical groups in positions 1 and 2, which are relevant for the planar chirality, were derived from NMR experiments, and the absolute configuration was determined by X-ray crystallography. Experimental ECD and VCD spectra were recorded, assigned, and interpreted by means of state-of-the-art quantum chemical computations, which allow for an unbiased analysis of the different structural factors that tune the overall spectroscopic features.

Cities have a fundamental role in the reduction of greenhouse gas emissions. The European Community has already addressed a specific planning under the actions referred as SEAPs (Sustainable Environmental Action Plans) and SECAPs (Sustainable Energy and Climate Action Plans). In fact, Municipalities are the smallest entities with a political responsibility in terms of Energy and Environmental Planning, and they must participate, as commitment, to the European Directives on Energy and fight to Climate change. They, finally, are often the most unsustainable environments due to the aggregation of many activities, energy and CO2 related. In this paper, for a typical small/medium-size Italian city (Avezzano), an evolution of the SEAP and the SECAP has been supposed and elaborated within the Covenant of Mayors. The synergy between the energy consumption of a city and the capability of a territory to mitigate CO2 and to finalize renewable energy to electricity production appears to be the right answer to the even more stringent commitments imposed by the gas crisis at worldwide level which is pushing to a new switch-on of coal fired power plants. Starting from the data and the list of actions elaborated to fulfil the SECAP, two scenarios have been evaluated to create a zero CO2 emission city. A model with multiple inputs has been elaborated with the main aim of reducing GHG emissions or compensating them, trying to sustain the effort to keep limited to 1,5 °C the maximum Planet’s temperature increase. Increasing the renewable energy production for all the energy final needs, exploitation of unused area finalized to carbon sequestration, energy efficiency and specific actions on the transportation sectors give all together a formidable contribution to reach this goal and to give to energy and environmental planning the right role it deserves.

(1R,2S)-Dodecyl(2-hydroxy-1-methyl-2-phenylethyl)dimethylammonium bromide (DMEB) aggregates dispersed in carbon tetrachloride have been investigated by Fourier transform infrared (FT-IR), vibrational circular dichroism (VCD) and 1H nuclear magnetic resonance (NMR) spectroscopy at various surfactant concentration and water-to-surfactant molar ratio. Experimental data indicate that, even at the lowest investigated concentration and in absence of added water, DMEBmolecules associate in supramolecular assemblies. At higherDMEBconcentration the aggregates can confine watermolecules,making it plausible to think thatDMEB form reverse micelles and that watermolecules are quite uniformly distributed among them andmainly located in the proximity of surfactant head groups.Moreover, the water state in DMEB reverse micelles has been found to be different from that in pure water, due to system-specific water/surfactant head group interactions. 1H NMR diffusion measurements of both water and DMEB emphasize their joined translational motion characterized by a diffusion rate one order of magnitude lower than that of free molecules. Finally, VCD allowed us to show some characteristics of the association of optically active DMEB molecules as reverse micelles and water confinement inside; namely, we monitored the vibrational optical activity of deuterated hydroxyl bonds of the self-assembled DMEB molecules and their interaction with D2Omolecules

Background: Gli studi che hanno valutato le abitudini alimentari dei bambini e adolescenti con diabete, hanno riportato una percentuale di assunzione di carboidrati più bassa di quella minima raccomandata spesso associata ad un maggiore consumo di grassi e ad una ridotta assunzione di fibre . Alcuni studi che hanno valutato il rapporto tra composizione della dieta e controllo glicometabolico in soggetti con diabete tipo 1, hanno evidenziato che una dieta ricca di grassi e povera di fibre è associata ad un peggior controllo glicometabolico. Obiettivo: Valutare in adolescenti affetti da diabete mellito tipo 1, con diverso grado di controllo metabolico, la frequenza di consumo settimanale dei vari gruppi di alimenti e l’eventuale correlazione di questa con i valori di emoglobina glicosilata ( HbA1c). Metodo: In 43 soggetti (M/F :22/21; età 11-14 anni) suddivisi in due gruppi in rapporto al valore mediano di HbA1c ( 8,45%), sono stati raccolti i dati relativi ai consumi alimentari degli ultimi tre mesi attraverso un questionario di frequenza di consumo ed è stata considerata la frequenza di scelte alimentari settimanali per gruppo di alimenti. Risultati I soggetti con miglior controllo glicometabolico (HbA1c< 8,45%) presentavano una maggiore frequenza di consumo settimanale dei seguenti gruppi di alimenti: frutta( p 8,45%) consumavano con maggiore frequenza alimenti appartenenti al gruppo di salumi (p=0,007), formaggi (p=0,02) e dolci /bevande zuccherate (p=0,0065). I valori di HbA1c erano inversamente correlati alla frequenza di consumo settimanale di frutta ((r – 0,65 p< 0,0001) e a quello di ortaggi( r – 0,32 p < 0,017) e direttamente correlati alla frequenza settimanale di consumo di alimenti appartenenti ai gruppi di salumi ( r 0,37 p< 0,007). Conclusioni: Il controllo glicometabolico in adolescenti con diabete tipo 1 è influenzato dalla frequenza di consumo settimanale di alimenti ricchi di fibre e di grassi animali. I principi di una sana