PMM2-CDG (PMM2 gene mutations) is the most common congenital disorder of N-glycosylation. We conducted a nationwide survey to characterize the frequency, clinical features, glycosylation and genetic correlates in Italian patients with PMM2-CDG. Clinical information was obtained through a questionnaire filled in by the referral physicians including demographics, neurological and systemic features, neuroimaging data and genotype. Glycosylation analyses of serum transferrin were complemented by ...

Surface enhanced Raman scattering (SERS) on eight-fold quasicrystal arrays with precisely controlled size and spacing fabricated via electron beam lithography was investigated. This SERS substrate shows high efficiency at 785 nm excitation in the detection of p-mercaptoaniline (pMA), and a SERS enhancement factor (EF ) of 107 is achieved. SERS behavior of the realized engineered SERS substrate indicates that the present engineered metamaterial may be used as an ultrasensitive Raman probe and ...

Metal nanoparticles (NPs) were prepared from acrylamide complex of iron and nickel nitrates by controlled thermolysis at constant temperature in a self-generated atmosphere and used to fabricate epoxy resin nanocomposites. X-ray diffraction performed on the nanoparticles revealed a metal core/polymeric shell structure for the nanoparticles thermolysed at higher temperature as also confirmed by cross analysis of thermo-gravimetrical and vibrating magnetometer data. Optical microscopy was used to ...

Intervertebral disc (IVD) degeneration is one of the main causes of low back pain. Current surgical treatments are complex and generally do not fully restore spine mobility. Development of injectable extracellular matrix-based hydrogels offers an opportunity for minimally invasive treatment of IVD degeneration. Here we analyze a specific formulation of collagen-low molecular weight hyaluronic acid (LMW HA) semi-interpenetrating network (semi-IPN) loaded with gelatin microspheres as a potential ...

Cnr-Nano researchers developed a device that allow heat to flow preferentially in one direction, providing the homologue of an electrical diode. In a paper published in Nature Nanotechnology, researchers show the performances achieved in a hybrid device combining normal metals tunnel-coupled to superconductors, providing the realization of a thermal diode for electronic heat current that could be successfully implemented in true low-temperature solid-state thermal circuits. The results are ...

An innovative robotized inclinometer system for inclinometer measurements to evaluate deep-seated ground deformations in standard boreholes. Our AIS (Automated Inclinometer System) allows for fully automatic inclinometer measurements in standard boreholes. The deep measurements have multiple applications, including (i) evaluating the rate of deep-seated ground deformation in landslide areas, (ii) evaluating the volume of deep-seated landslides, and (ii) assessing landslide hazards. The AIS is ...

The continual progress of physics provides an insight ever deeper of the Universe, and also to have new technologies, but at the same time place us in front to new and new demands. One of the open questions in physics is to reconcile the two most successful theories of physics, Einstein's general relativity and quantum physics, which work perfectly, but in completely different fields. General relativity explains gravity and the universe at large scale, astronomical and cosmological, and at the ...

Esistono alcuni gamberetti che riescono a vedere la luce con una dimensione in più rispetto a noi per individuare meglio il quasi invisibile plancton. Infatti la luce, oltre al colore dato dalla propria energia, ha un'altra proprietà di cui normalmente non è facile rendersi conto: la polarizzazione, ossia la direzione e il modo in cui il campo elettromagnetico oscilla nel propagarsi alla velocità della luce. Uno studio pubblicato sulla rivista 'Light Science & Applications' propone e ...

Era già noto da tempo che la cozza fosse fonte preziosa di principi antiossidanti, proteine nobili, vitamine e sali minerali, potente antinfiammatorio naturale e cibo afrodisiaco, ed era già altrettanto noto che la sua 'bava' fosse una colla dotata di superpoteri. Nessuno però si era spinto fino ad oggi a studiare il comportamento delle sue proteine per misurare la portata di questa 'appiccicosità'. L'insolita ricerca, pubblicata su Nature Communication, è stata condotta dai ricercatori ...

It is already two decades that there is an evident re-distribution of economic power among the Triad (North America, Europe and Japan) and new emerging economies. Trends in the international trade and FDI show how economic activities in the Triad are threatened by countries such as China and India. Both nations have huge population and they are more and more crucial economic partners in the new and multi-polar world economy. To which extent the economic activities of these two emerging areas are ...

The climate changes related to CO2 emission from combustion of fossil fuels increased more and more in the last 50 years. According to Protocol of Doha, extending the Protocol of Kyoto, the European Union decided 20% (or even more) reduction of CO2 emission levels of 1990 by 2020. The Covenant of Mayors is a European movement where local/regional authorities, voluntarily commit to increasing energy efficiency and use of renewable energy. In this framework the Istituto di Ricerche sulla ...

The growing interest in metal nanoparticles (NP) is related to their increasing importance for a series of applications, ranging from nanoelectronics to magnetism, pharmaceutics (e.g. for biological labeling) and catalysis. It is now well established that the NPs' properties depend critically on their size and shape1-3 and that some peculiar geometries may appear when reducing the cluster size4. In spite of the vast literature on the topic, most of the attention has concentrated so far on metal ...

The location of Italian Peninsula at the convergence between the African and Eurasian plates, makes it a Country with high level of seismic hazard. The relationship between the damage and the energy released by earthquakes is much stronger in Italy than in other Countries with high seismicity, such as California or Japan. This is mainly because our Country is characterized by the presence of historical centers with buildings that often are not adequate to support seismic forces. Our historical ...

This research focuses on the molecular mechanisms underlying the following processes: the development and differentiation, the degeneration and senescence, the reproduction, the evolutionary adaptation, the defence from endogenous and exogenous stresses, the maintainance of genomic integrity and fuctionality, the apoptosis, the protein stability, transfer and metabolism, the genetic expression and the signal transduction. The study of the above mechanisms is carried out adopting a ...

This research aim at: -tracing, monitoring, preserving, characterizing and exploiting the biodiversity of species of interest for the agri-food sector, and the natural and agroforestry ecosistems (including non-plant organisms) with the goal of securing their sustanability; -enhancing the knowledge on the evolution of bioresources and their distribution and functional role, with the goal of securing their adaptive potential against stress factors generated by the climate change, and defining ...

This reseach focuses on: -the comprehension of extant relations among biochemical features of food, nutrition and cellular functions for the assessment of their effects on human and animal health, and their possible role in the disease prevention; -the identification of interactions of genetic, epigenetic, nutritional and environmental factors with human health, and their impacts on growth regulation, homeostasis and cellular differentiation both along development and in physiological and ...

A giant depression (0.5 km2) associated with hydrothermal activity has been recently discovered, on the seafloor surrounding Zannone Island (western Pontine Archipelago, Tyrrhenian Sea) at water depth ranging between 110 and 130 m, by CNR-IGAG researchers. This depression has been studied through very high resolution bathymetric data in the framework of the MaGIC project (http://www.magicproject.it/). Successively, during the research cruise "BOLLE 2014" aboard of the Urania R/V the site has ...

This research focuses on: -the investigation of molecular, genetic and epigenetic mechanisms underlying plant fitness and the quality of their products; -transfer of basic knowledge from model species to species of natural and agricultural interest though translational approaches; -translate into practice the basic knowledge obtained from both biological studies and PGR assessment through biotechnological or "precision" breeding activities. Combining "omics" and bioinformatics platforms and ...

Segno e parola is the title of the exhibition organized by the Istituto per il Lessico Intellettuale Europeo e Storia delle Idee (ILIESI) of the Consiglio Nazionale delle Ricerche, to celebrate its 50 years of research activities.  The event has been organized in collaboration with the Istituto Centrale per la Grafica in Rome and it is dedicated to the works of Carlo Lorenzetti, sculptor and engraver. Since the mid-eighties, the art of Carlo Lorenzetti has been associated with the most ...

Systems medicine is a flourishing discipline that stimulates widespread research interests. The highlighted map in Fig.1 presents a health ecosystem, which is a connected community of living and non-living elements whose cooperation forms a complex space of relations, decisions and actions. The wealth of health- and disease-related data from biomedical, environmental, clinical and social studies is the product of such ecosystem, which continues to generate new challenges together with ...

The role of low doses of chemicals or chemical mixtures in carcinogenesis is still an open research field. On June 23rd of this year, the Journal Carcinogenesis published a special issue on this topic entitled "Assessing the Carcinogenic Potential of Low Dose Exposures to Chemical Mixtures in the Environment" (http://carcin.oxfordjournals.org/content/36/Suppl_1?etoc), result of the work of 174 researchers working on cancer research in several and prominent institutions all over the world. The ...

This research focuses on the molecular mechanisms of biological systems involved in agri-food and biotechnological progress, human health and eco-sustainable development. Multidisciplinary investigations in this line deal with functional and molecular studies on proteins, enzymes and microorganisms (archaea and bacteria as a source of hyperstable biocatalizers), and with physiological studies of eucaryotes (plants, algae, filamentous fungi, polar marine organisms, insect host/parasitoid ...

Da FOCUS CNR n.1 2015 L'Italia custodisce un immenso patrimonio storico-artistico, che costituisce una preziosa eredità da salvaguardare e tramandare alle generazioni future, sviluppando nuove tecniche di intervento non invasive e adottando efficaci strategie conservative. L'ultima frontiera nel campo della conservazione è l'impiego di impulsi laser per la rimozione di depositi e materiali applicati in precedenti restauri dalla superficie di un'opera d'arte. "La tecnica, solitamente, sfrutta ...

Researchers at the Institute of Molecular Genetics of the CNR of Pavia, IFOM and the Department of Biosciences of the University of Milan, have shown that the protein Nova2, until now considered only present in the brain, is also expressed by the cells of the blood vessels and is directly related to their development. The study, published in Nature Communications, was supported by AIRC - Associazione Italiana per la Ricerca sul Cancro. The formation of new blood vessels, a process called ...

Down syndrome, also known as Trisomy 21, is associated, albeit with varying severity, with intellectual disability, premature aging, propensity to develop a disease similar to Alzheimer's, and the onset of some types of leukemia. Several studies have associated this phenotype with increased oxidative stress. A research conducted by a team of IGM researchers coordinated by Ennio Prosperi, in collaboration with the Department of Pharmaceutical Sciences of the University of Pavia, have shown that ...

Il DNA è costantemente minacciato nella sua integrità. A proteggerlo o a rimediare quando viene danneggiato ci pensa il cosiddetto DNA damage response, che provvede a prevenire che venga danneggiato e a ripararlo se questo accade. Nella genesi tumorale l'attivazione di un oncogene è un evento necessario. In passato abbiamo scoperto che gli oncogeni danneggiano il DNA sottoponendolo ad una replicazione "eccessiva", non regolata e perciò prona alla rottura. Abbiamo recentemente scoperto che un ...

Device-free radio vision is an augmented functionality provided by radio transceivers - typically heterogeneous, densely distributed and networked - that monitor the fluctuations of the electromagnetic (EM) field across the space. These monitoring devices may be pre-existing, deployed at arbitrary (or optimized) locations for communication purposes in the area of interest, and exchange digital information by any wireless communication protocol. Radio vision systems leverage diffraction, ...

ICAR laboratory ADA Lab conducts research in the area of Behavior Computing, a discipline aimed at modelling and analysing the behavior of heterogeneous entities in their environment. Behavior Computing is an important topic in different contexts including: consumer analytics, social computing, fraud detection, and group decision-making. The goal of ADA Lab in this context is twofold. First, defining mathematical models that allow to analyse, understand, and predict actions made by entities in ...

The Cognitive Systems Lab is aimed at studying and realizing cognitive systems of new generation, able to learn, reason, and pervasively engage with humans in a natural, personalized, reactive and/or proactive way. Theoretical, experimental, and applied research activities will be aimed at designing and implementing cognitive systems able to: i) engage individually or collectively with humans by combining advanced visualization techniques with adaptive and proactive multi-modal mechanisms based ...

One of the greatest challenges in biomedicine is to get a unified view of observations made from the molecular (microscopic) to the cellular (mesoscopic) up to the organism (macroscopic) scale. Towards this goal, multiscale models have been highly instrumental in contexts such as the cardiovascular field, angiogenesis, neurosciences and tumour biology. More recently, such models are becoming an increasingly important resource to address immunological questions as well. Multiscale modelling aims ...