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Airborne microsized particles are generated by artificial activity and natural sources. Due to their characteristics, these airborne particles are highly volatile and can cover thousands of kilometers according to weather conditions (in particular, wind intensity and humidity). As a result, these microsized particles could contaminate engineering systems determining their operation and performance modification. Phenomena such as photovoltaic panel soiling or gas turbine fouling are two of the most detrimental effects generated by the interaction between airborne particles and the relevant surfaces of the system. The present work proposes a set of non-contact measurement methodologies to study the adhesion phenomenon. The non-contact techniques are devoted to studying the deposited layer without altering the deposits. Image and video analysis have been used to show how the deposit can be studied in detail. Stationary and rotating facilities have been employed to show the applicability and the related constraints to the non-contact measurement techniques.

Gas turbine fouling is commonly known as responsible for performance degradation in terms of compression ratio and efficiency. The adhesion of micro-sized particles (soil, soot, salt, etc.) caused the modification of the blade shapes and the surface roughness. Both of these two effects determine the modification of the compressor performance over the unit operation. Due to the lack of capability to forecast the fouling intensity, it could be useful to estimate the fouling intensity during the machine overhaul, collecting strategical data by which a specific characterization of a given machine in a given operating site can be done. The present paper proposes and validates a helpful methodology for estimating the deposit intensity by an image analysis procedure. An image-detection technique has been carried out before and after the contamination process, and, using a subtraction process, a quantitative analysis of the fouled regions can be developed. The results show that, with a careful light and camera setup, the intensity of the deposits can be estimated with an acceptable tolerance band, which allows the possibility of collecting quantitative data on compressor deposits during overhaul operations. This generates a valuable starting point for predicting the overtime degradation of the unit and/or estimating the filtration section efficiency.

Background Targeted resequencing has become the most used and cost-effective approach for identifying causative mutations of Mendelian diseases both for diagnostics and research purposes. Due to very rapid technological progress, NGS laboratories are expanding their capabilities to address the increasing number of analyses. Several open source tools are available to build a generic variant calling pipeline, but a tool able to simultaneously execute multiple analyses, organize, and categorize the samples is still missing. Results Here we describe VarGenius, a Linux based command line software able to execute customizable pipelines for the analysis of multiple targeted resequencing data using parallel computing. VarGenius provides a database to store the output of the analysis (calling quality statistics, variant annotations, internal allelic variant frequencies) and sample information (personal data, genotypes, phenotypes). VarGenius can also perform the “joint analysis” of hundreds of samples with a single command, drastically reducing the time for the configuration and execution of the analysis. VarGenius executes the standard pipeline of the Genome Analysis Tool-Kit (GATK) best practices (GBP) for germinal variant calling, annotates the variants using Annovar, and generates a user-friendly output displaying the results through a web page. VarGenius has been tested on a parallel computing cluster with 52 machines with 120GB of RAM each. Under this configuration, a 50 M whole exome sequencing (WES) analysis for a family was executed in about 7 h (trio or quartet); a joint analysis of 30 WES in about 24 h and the parallel analysis of 34 single samples from a 1 M panel in about 2 h. Conclusions We developed VarGenius, a “master” tool that faces the increasing demand of heterogeneous NGS analyses and allows maximum flexibility for downstream analyses. It paves the way to a different kind of analysis, centered on cohorts rather than on singleton. Patient and variant information are stored into the database and any output file can be accessed programmatically. VarGenius can be used for routine analyses by biomedical researchers with basic Linux skills providing additional flexibility for computational biologists to develop their own algorithms for the comparison and analysis of data. The software is freely available at: https://github.com/frankMusacchia/VarGenius

Purpose The term orthorexia nervosa (ON) was coined to describe altered thoughts and behaviours related to healthy eating. The prevalence of ON was found to scale up to almost 90% among high-risk populations (ballet dancers, athletes, and health workers). ON seem to share psychopathological aspects with both Eating Disorders (ED) and Obsessive–Compulsive Disorder (OCD). The aim of the study was to analyse the frequency and intensity of ON symptoms among subjects diagnosed with OCD, hypothesising that they would be higher than in two control groups (subjects with anxiety-depressive disorders and general population). Methods We conducted a multi-centre, observational, controlled study. Subjects filled in a socio-demographic questionnaire including questions related to life-style and two psychometric instruments: ORTO-15, for ON symptoms, and OCI-R, for OCD symptoms. Post hoc analysis of the dataset was performed using the revised version of ORTO-15, the ORTO-R. Results In the final sample of 328 subjects, the overall prevalence of ORTO-15-ON was 59.5%, mean score 37.9 ± 4.2. The mean score at the ORTO-R was 16.6 ± 4.6. No statistically significant differences were found in the prevalence of ON or in the mean ORTO-15 score among OCD patients and the two control groups, and this was confirmed by the multiple regression analysis. At the ORTO-R re-scoring, OCD patients scored significantly lower than the two clinical subgroups ( p  = .0005) and a lower ORTO-R score was associated to positivity at the OCI-R, confirming the initial hypothesis of the study. Conclusions ON symptoms do seem to be more prevalent among subjects suffering from OCD. The psychometric properties of tools available to calculate ON symptoms, namely ORTO-15 vs. ORTO-R, play a relevant role in explaining such finding. ORTO-R seems to be a valid alternative able to overcome such difficulties, though further studies are needed to confirm this.

The quality of bottled beverages depends on the thermal process they undergo during the bottling process. The thermal history of the bottled beverage impacts the conservation of the product itself indeed. The temperature variation is related to specific aspects, such as the thermophysical properties, the heat exchange regime, and the possible simultaneous presence of more phases in the beverage itself. For instance, the behavior of the fluid inside the container might change according to the percentage of solid phases (e.g., pulp for juices). The present work addresses the cooling process on a processing line for beverage containers. This process aims to reduce the fluid temperature to preserve organoleptic characteristics and allows a stable and safe storage phase. The analysis has been carried out with a purpose-designed test bench to mimic the cooling process. Two juices with different percentages of solids (15 % and 50 %) are investigated for two container volumes (250 ml and 330 ml) and two container materials (glass and aluminum). The results show the influence of the pulp content on the cooling performance. The changes in the heat transfer performance determine different outlet temperature values and a different sensitivity to the container characteristics.

Background:The most frequent mutation of Friedreich ataxia (FRDA) is the abnormal expansion of a GAA repeat located within the first intron of FXN gene. It is known that the length of GAA is directly correlated with disease severity. The effect of mutation is a severe reduction of mRNA. Recently, a link among aberrant CpG methylation, chromatin organisation and GAA repeat was proposed.Methods:In this study, using pyrosequencing technology, we have performed a quantitative analysis of the methylation status of five CpG sites located within the region upstream of GAA repeat, in 67 FRDA patients.Results:We confirm previous observation about differences in the methylation degree between FRDA individuals and controls. We showed a direct correlation between CpG methylation and triplet expansion size. Significant differences were found for each CpG tested (ANOVA p<0.001). These differences were largest for CpG1 and CpG2: 84.45% and 76.80%, respectively, in FRDA patients compared to 19.65% and 23.34% in the controls. Most importantly, we found a strong inverse correlation between CpG2 methylation degree and age of onset (Spearman’s ρ  =  −0.550, p<0.001).Conclusion:Because epigenetic changes may cause or contribute to gene silencing, our data may have relevance for the therapeutic approach to FRDA. Since the analysis can be performed in peripheral blood leucocytes (PBL), evaluation of the methylation status of specific CpG sites in FRDA patients could be a convenient biomarker.

The pursuit of higher efficiency for compression and micro-power generation systems has pushed the researchers to an in-depth analysis of positive displacement machines. Single-screw machines, among the others, are gaining attention in the Organic Rankine Cycle (ORC) systems as expanders, thanks to their extended maintenance intervals and compactness. The performances of such devices are strongly affected by the working conditions, and especially the presence of oil has major effects on the operability. The main advantage of adopting an oil-injected device consists in the lube sealing effect, which permits better performance (greater shaft power for assigned boundary conditions) as well as higher reliability. The choice of whether using an oil-free configuration or not is related to the working fluid cleanness, system complexity (oil separator, filters, recovery pump), flow rate and pressure ratio. In this paper, the full 3D numerical simulation of an oil-injected single-screw expander operating with R245fa refrigerant is presented. Oil is injected together with the working fluid at the inlet of the machine. Oily droplets are tracked over the admission duct to show how the oil droplets reach the inlet ports of the screw machine. Different behaviors related to different oil droplet diameters in the range of (0.5 - 50) μm are studied, for the same operating point. The proper distribution of the oil droplets on the screw inlet ports are directly related to the single screw expander performance. In addition, a particular screw position is analyzed for studying the effects of leakages on the oil injection and oil film evolution over the time.

Background: Previous association studies of the −55CT polymorphism of the uncoupling protein 3 (UCP3) gene with body mass index (BMI) have provided inconsistent results. The study aim is twofold: (1) to evaluate the association of the −55CT polymorphism of UCP3 with BMI in two independent populations to verify the reproducibility of the finding; (2) to evaluate whether this association is modulated by energy intake. Methods: Study participants are 736 males and females with type 2 diabetes belonging to independent populations ( N =394 population 1; N =342 population 2). Anthropometry and laboratory parameters were measured; in population 2, energy intake and physical exercise were also assessed. Results: The −55CT polymorphism was associated with a significantly lower BMI in population 1 (27.8±3.9 vs 28.9±4.6 kg m −2 ; P <0.02), the finding was confirmed in population 2 (that is, 30.3±6.0 vs 32.1±5.9 kg m −2 ; P <0.01) independent of gender, age, HbA1c, use of drugs and energy intake. To evaluate the role of diet in population 2, the study participants were stratified by genotype and tertiles of energy intake. In both genotype groups, BMI increased with increasing caloric intake with a significant trend ( P <0.001), the BMI difference between the two genotype groups was large and statistically significant in the lower tertile (27.6 vs 31.2 kg m −2 ; P <0.001), intermediate in the second tertile and negligible in the upper tertile (32.8 vs 32.9; kg m −2 ; nonsignificant). The multivariate regression analysis confirmed a significant interaction between genotype and energy intake as correlates of BMI independent of age, gender, glucose control, physical activity and medications for diabetes ( P =0.004). Conclusions: The study replicates in two independent populations the association between the –55CT polymorphism of UCP3 and a lower BMI. This association was modulated by energy intake, thus suggesting that the unmeasured effect of diet may partly account for inconsistencies of prior association studies.

Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is characterized by vascular and skeletal abnormalities. LDS, classified into six subtypes (LDS1-6), is caused by mutations in the genes encoding proteins involved in the transforming growth factor-beta (TGF-β) signaling pathway. LDS4 is the mild form of the LDS spectrum, considering that aneurysms are observed in the fourth decade and the disease progression is slower than the other forms. We reported the case of a novel variant c.280_298del p.(Ser94Profs*7), NM_001135599.2 responsible of LDS4 in a family with sudden death and vascular lesions. The pedigree analysis highlighted the high clinical variability of LDS signs even within the same family. In addition, mutations which do not always lead to vascular phenotype and skeletal signs can be prevalent. We emphasize the relevance of genetic counseling and molecular analysis to identify genetic diseases subtending sudden deaths and to distinguishing heritable connective tissue disorders with phenotypic overlap. Genetic testing can be used to guide clinical management and provide valuable prognostic information.

Antipsychotic long-acting injections (AP-LAIs) are indicated for patients affected by schizophrenia especially those with poor treatment adherence. To compare paliperidone palmitate 3-monthly (PP3M), paliperidone palmitate one-monthly (PP1M) and haloperidol decanoate (HAL-D) treatment, we enrolled 90 patients with schizophrenia treated in Mental Health Center with one of the three AP-LAIs for at least six months and followed them for another 6 months. At 6 and 12 months of treatment we administered Clinical Global Impression-Severity, Global Assessment of Functioning and World Health Organization Quality of Life-26 items (WHOQOL-BREF). At 1-year treatment, we evaluated relapses (psychiatric hospitalizations and urgent consultations), side effects and drop-outs. We did not highlight any statistically significant difference among the three treatments in relapses and scale scores. Weight increase was significantly higher in PP1M and PP3M groups. Twelve patients (13.3%) discontinued AP-LAI. At 1-year AP-LAI treatment, 69% of patients rated quality of life as \"good\" or \"very good\" and 71% declared themselves to be \"satisfied\" or \"very satisfied\". HAL-D, PP1M and PP3M 1-year treatments were similarly effective in preventing relapses and improving quality of life and health satisfaction. All discontinuations in the new 3-monthly antipsychotic treatment were caused by patient refusal to continue it.