TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs

Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through assisted manual filtering and automated classification, based on an extensive catalogue of functional annotation supported by rigourous enrichment analysis. We demonstrate that our classifiers are able to accurately predict pathogenic CNVs, outperforming current alternative methods, and produce a well-calibrated pathogenicity score. Our results suggest that functional annotation-based prioritisation of pathogenic CNVs is a promising approach to support clinical diagnostics and to further the understanding of mechanisms controlling the disease impact of larger genomic alterations

Crack growth behavior of SBR, NR and BR rubber compounds: comparison of Pure-Shear versus Strip Tensile test

Fatigue crack growth experiments on different carbon black–filled rubber compounds have been carried out to evaluate the influence of pure-shear and strip tensile testing mode by using sine and pulse as waveforms. In a previous set of experimental investigations regarding the influence of both waveform and tested material, it was found that the mode I of crack opening sometimes propagates too quickly to be properly monitored in tests involving strip-tensile specimens. An alternative test methodology based on pure-shear test mode has been investigated, optimizing both the shape of the specimen and the test equipment. Data obtained from the different compound formulations were consistent with the theoretical background and resulted in similar ranking of compound crack growth resistance for the two testing modes; in addition, pure-shear mode showed a higher sensitivity to formula variations

The current landscape of imaging recommendations in cardiovascular clinical guidelines: toward an imaging-guided precision medicine

The purpose of this article is to provide an overview on the role of CT scan and MRI according to selected guidelines by the European Society of Cardiology (ESC) and the American College of Cardiology/American Heart Association (ACC/AHA). ESC and ACC/AHA guidelines were systematically reviewed for recommendations to CT and MRI use in specific cardiovascular (CV) clinical categories. All recommendations were collected in a dataset, including the class of recommendation, the level of evidence (LOE), the specific imaging technique, the clinical purpose of the recommendation and the recommending Society. Among the 43 included guidelines (ESC: n = 18, ACC/AHA: n = 25), 26 (60.4%) contained recommendations for CT scan or MRI (146 recommendations: 62 for CT and 84 for MRI). Class of recommendation IIa (32.9%) was the most represented, followed by I (28.1%), IIb (24%) and III (11.9%). MRI recommendations more frequently being of higher class (I: 36.9%, IIa: 29.8%, IIb: 21.4%, III: 11.9%) as compared to CT (I: 16.1%, IIa: 37.1%, IIb: 27.4%, III: 19.4%). Most of recommendation (55.5%) were based on expert opinion (LOE C). The use of cardiac CT and cardiac MR in the risk assessment, diagnosis, therapeutic and procedural planning is in continuous development, driven by an increasing need to evolve toward an imaging-guided precision medicine, combined with cost-effectiveness and healthcare sustainability. These developments must be accompanied by an increased availability of high-performance scanners in healthcare facilities and should emphasize the need of increasing the number of radiologists fully trained in cardiac imaging

Standardization of Cu2O nanocubes synthesis: Role of precipitation process parameters on physico-chemical and photo-electrocatalytic properties

A facile, reproducible, and scalable wet precipitation method was optimized to synthetise Cu2O nanocubes with tuneable morphology and photocatalytic properties. The synthesis process was standardized by controlling the flow rate of addition of the reducing agent. This allowed to control the Cu2O crystallites size, which decreased from 60 nm to 30 nm by increasing the L-ascorbic acid flow rate, while maintaining a high yield (ranging from 87% to 97%) and reproducibility, as confirmed by X-Ray diffraction, scanning electron microscopy, and X-Ray photoelectron spectroscopy analyses. Moreover, the role of the synthesis conditions on the Cu2O nanocubes specific surface area and electrochemical surface area (ECSA) were investigated and correlated to their photo-electrocatalytic activity for the reduction of water and CO2 under ambient conditions, on electrodes made by air brushing. Decreasing of the Cu2O crystallites size enhanced the photo-electrocatalytic activity most probably due to a superior surface area, ECSA and an optimum valence and conduction band positions, which improves the charge transfer properties of the photocatalyst. The here proposed methodology and outcomes are very promising for the scale-up of the precipitation synthesis, not only of Cu2O but also of other nanostructured metal oxides to be exploited as photo-catalysts for environmental and energy applications

Biodegradable polymeric micro/Nano-structures with intrinsic antifouling/antimicrobial properties: Relevance in damaged skin and other biomedical applications

Bacterial colonization ofimplanted biomedical devicesis themain cause of healthcare-associated infections, estimated to be 8.8 million per year in Europe. Many infections originate from damaged skin, which lets microorganisms exploit injuries and surgical accesses as passageways to reach the implant site and inner organs. Therefore, an effective treatment of skin damage is highly desirable for the success of many biomaterial-related surgical procedures. Due to gained resistance to antibiotics, new antibacterial treatments are becoming vital to control nosocomial infections arising as surgical and post-surgical complications. Surface coatings can avoid biofouling and bacterial colonization thanks to biomaterial inherent properties (e.g., super hydrophobicity), specifically without using drugs, which may cause bacterial resistance. The focus of this review is to highlight the emerging role of degradable polymeric micro- and nano-structures that show intrinsic antifouling and antimicrobial properties, with a special outlook towards biomedical applications dealing with skin and skin damage. The intrinsic properties owned by the biomaterials encompass three main categories: (1) physical-mechanical, (2) chemical, and (3) electrostatic. Clinical relevance in ear prostheses and breast implants is reported. Collecting and discussing the updated outcomes in this field would help the development of better performing biomaterial-based antimicrobial strategies, which are useful to prevent infections

Role of toll-like receptors in actuating stem/progenitor cell repair mechanisms: Different functions in different cells

Toll-like receptors (TLRs) represent one of the bridges that regulate the cross-talk between the innate and adaptive immune systems. TLRs interact with molecules shared and preserved by the pathogens of origin but also with endogenous molecules (damage/danger-associated molecular patterns (DAMPs)) that derive from injured tissues. This is probably why TLRs have been found to be expressed on several kinds of stem/progenitor cells (SCs). In these cells, the role of TLRs in the regulation of the basal motility, proliferation, differentiation processes, self-renewal, and immunomodulation has been demonstrated. In this review, we analyze the many different functions that the TLRs assume in SCs, pointing out that they can have different effects, depending on the background and on the kind of ligands that they recognize. Moreover, we discuss the TLR involvement in the response of SC to specific tissue damage and in the reparative processes, as well as how the identification of molecules mediating the differential function of TLR signaling could be decisive for the development of new therapeutic strategies. Considering the available studies on TLRs in SCs, here we address the importance of TLRs in sensing an injury by stem/progenitor cells and in determining their behavior and reparative activity, which is dependent on the conditions. Therefore, it could be conceivable that SCs employed in therapy could be potentially exposed to TLR ligands, which might modulate their therapeutic potential in vivo. In this context, to modulate SC proliferation, survival, migration, and differentiation in the pathological environment, we need to better understand the mechanisms of action of TLRs on SCs and learn how to control these receptors and their downstream pathways in a precise way. In this manner, in the future, cell therapy could be improved and made safer

Risk of infectious mononucleosis among agonistic swimmers: a cross-sectional study

BACKGROUND: The risk of infectious mononucleosis among athletes is quite debated. Some personal observations seem to suggest an increase risk of mononucleosis among athletes, because they attend always close settings with an high probability of respiratory pathogens transmission; overtraining has been also proposed as risk factor. STUDY DESIGN: Cross-sectional study in a group of swimmers (aged 11-14 years) of the University Sport Centre of Bari. METHODS: 40 swimmers were interviewed by healthcare personnel at the end of training courses; demographic characteristics, personal habits, information about sport training and diagnosis of mononucleosis were analysed. RESULTS: The life-time incidence of mononucleosis was around 40%; multivariate analysis showed the association between mononucleosis and use of bottles of other persons (aOR=8.2; 95% CI=1.4-49.2; z=2.32; p=0.021) and average duration of training session was longer among subjects who reported mononucleosis than in subjects who did not indicate this disease. CONCLUSIONS: Future multi-centric studies are needed to better define the epidemiology of the mononucleosis in sport settings and to formulate appropriate recommendations to prevent the spreading of this disease

Women and alcohol. A survey in the city of Barletta

Introduction. The aim of this survey was to evaluate the qualitative and quantitative relationship among women from Barletta - a national renowned wine center - and their alcohol consumption. Methods. The AUDIT questionnaire was used to assess the prevalence of alcohol hazardous consumption among women. Questionnaires were submitted from March to November 2012. The sample was composed of 150 women older than 13 years of age, selected by stratified sampling based on age group. Results. 107 women were enrolled with a total response rate of 71.3%. 62% of enrolled women consumes alcoholic beverages with a frequency that goes from 2-3 times a week to less than once a month, usually 1 or 2 alcoholic units. The binge-drinking was reported by 5% of women. Women who reported alcohol-related risk behaviors were less than 3%, they were single and between 18 and 60 years old and such behaviors occur less than once a month. The final score, calculated for all the women from their questionnaire answers, was not higher than 8, with an average score of 1.3 (SD = 1.5; range: 0 to 2.8). The comparison of the average scores of the three age groups showed a statistically sig- nificant difference (F = 5.8, p = 0.004). Discussion. Data from literature showed a change in the habits of alcohol intake by the global, European and also Italian population. These changes also affect and involve female. Our study found a quite moderate alcohol consumption among women from Barletta, with only 1% who consumes 3 or more alcohol units and drink more than four times a week and 3% who had hazardous behavior related to their alcohol consumption. Statistical significance was found for the age and the lack of stable relationships. The analysis of characteristics of at risk women (old age and single-status) suggests that much attention should be paid to them and they should represent the main subject of future social interventions to prevent alcohol related problems in the city of Barletta

Eco-Innovation for Recycling/Remanufacturing Electric Vehicle Engines

Because of climate changes and the increasing cost of raw materials, the mobility will become more and more electric in the future years. It is already the case for automotive and the first electric car from Renault company, “Renault Zoé” appeared in 2009. So the first models are now reaching their End-Of-Life and it is time to consider their dismantling. The traditional recycling industry used for Internal Combustion Engine vehicles is not adapted to electric vehicle powertrains. This study deals with the disassembly of 2 electric powertrains of Renault Zoé vehicle. All the components have been separated, identified, their chemical composition has been determined as well as their potential recyclability. We have highlighted that sometimes, some materials should be substituted by more recyclable others and that some subsets should be redesigned in order to facilitate the disassembly. A strategy to maximize the gain, reduce wastes has been built and some recommendations for the future design of these electric powertrains has been proposed