Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (ATM, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53) in a cohort of 450 Italian patients with Hereditary Breast/Ovarian Cancer Syndrome, wild type for germline mutation in BRCA1/2 genes. The analysis was extended to 5′UTR and 3′UTR of all the genes listed above and to the BRCA1 and BRCA2 known regulatory regions in a subset of 120 patients. The screening was performed through NGS target resequencing on the Illumina platform MiSeq. 8.7% of the patients analyzed is carriers of class 5/4 coding variants in the ATM (3.6%), BRIP1 (1.6%), CHEK2 (1.8%), PALB2 (0.7%), RAD51C (0.4%), RAD51D (0.4%), and TP53 (0.2%) genes, while variants of uncertain pathological significance (VUSs)/class 3 were identified in 9.1% of the samples. In intron-exon junctions and in regulatory regions, variants were detected respectively in 5.1% and in 32.5% of the cases analyzed. The average age of disease onset of 44.4 in non-coding variant carriers is absolutely similar to the average age of disease onset in coding variant carriers for each proband’s group with the same cancer type. Furthermore, there is not a statistically significant difference in the proportion of cases with a tumor onset under age of 40 between the two groups, but the presence of multiple non-coding variants in the same patient may affect the aggressiveness of the tumor and it is worth underlining that 25% of patients with an aggressive tumor are carriers of a PTEN 3′UTR-variant. This data provides initial information on how important it might be to extend mutational screening to the regulatory regions in clinical practice.     

Influence of microorganisms on retinol isomerization in milk

In order to have a deeper insight into the retinol isomerization phenomenon, in this work different milk samples have been analysed for their content of trans retinol and its cis-isomers, by means of reliable HPLC techniques. Levels of the different isomers and the degree of retinol isomerization (13-cis/all-trans ratio, %) have been monitored during milk storage at different temperatures and after addition of specific microorganisms. In raw milk stored at 4 degrees C for 96 h the degree of retinol isomerization shifted from 1.1 to 2.3%, while in raw milk stored at 22 degrees C for 24 h it increased from 1.1 to 12.7%. Among microorganisms tested in pasteurized milk, the most active in causing an increment in the 13-cis/all-trans ratio (%), from 3.4 to 33.4% in 8 h, was Streptococcus thermophilus. The results obtained demonstrated a relationship between microbial evolution and retinol isomerization. Therefore, the determination of retinol isomers is of importance not only for a more precise evaluation of vitamin A activity but also for the evaluation of the microbiological quality of milk.     

Alternative Methods to SO2 for Microbiological Stabilization of Wine

The use of sulfur dioxide (SO₂) as wine additive is able to ensure both antioxidant protection and microbiological stability. In spite of these undeniable advantages, in the last two decades the presence of SO₂ in wine has raised concerns about potential adverse clinical effects in sensitive individuals. The winemaking industry has followed the general trend towards the reduction of SO₂ concentrations in food, by expressing at the same time the need for alternative control methods allowing reduction or even elimination of SO_2. In the light of this, research has been strongly oriented toward the study of alternatives to the use of SO₂ in wine. Most of the studies have focused on methods able to replace the antimicrobial activity of SO₂. This review article gives a comprehensive overview of the current state‐of‐the‐art about the chemical additives and the innovative physical techniques that have been proposed for this purpose. After a focus on the chemistry and properties of SO₂ in wine_, as well as on wine spoilage and on the conventional methods used for the microbiological stabilization of wine, recent advances on alternative methods proposed to replace the antimicrobial activity of SO₂ in winemaking are presented and discussed. Even though many of the alternatives to SO₂ showed good efficacy, nowadays no other physical technique or additive can deliver the efficacy and broad spectrum of action as SO₂ (both antioxidant and antimicrobial), therefore the alternative methods should be considered a complement to SO₂ in low‐sulfite winemaking, rather than being seen as its substitutes.     

Early CSF Biomarkers and Late Functional Outcomes in Spinal Cord Injury. A Pilot Study

Although, biomarkers are regarded as an important tool for monitoring injury severity and treatment efficacy, and for predicting clinical evolution in many neurological diseases and disorders including spinal cord injury, there is still a lack of reliable biomarkers for the assessment of clinical course and patient outcome. In this study, a biological dataset of 60 cytokines/chemokines, growth factorsm and intracellular and extracellular matrix proteins, analyzed in CSF within 24 h of injury, was used for correlation analysis with the clinical dataset of the same patients. A heat map was generated of positive and negative correlations between biomarkers and clinical rating scale scores at discharge, and between biomarkers and changes in clinical scores during the observation period. Using very stringent statistical criteria, we found 10 molecules which correlated with clinical scores at discharge, and five molecules, which correlated with changes in clinical scores. The proposed methodology may be useful for generating hypotheses regarding “predictive” and “treatment effectiveness” biomarkers, thereby suggesting potential candidates for disease-modifying therapies using a “bed-to-bench” approach.     

Conditioning of Rh/α-Al2O3 catalysts for H2 production via CH4 partial oxidation at high space velocity

Experimental evidence and literature indications suggest that the process of methane partial oxidation over Rh catalysts is structure sensitive. Crystal phases and Rh cluster size are thus expected to affect the final catalytic performance. In this work, it is observed that outstanding performances are obtained when the as-prepared catalysts are conditioned through repeated runs at increasing temperature and O₂/CH₄ = 0.56. Catalysts slowly activate, that is CH₄ conversion and synthesis gas selectivity progressively grow with time on stream. On the basis of TPO and CH₄ decomposition measurements, this phenomenon is herein explained as the result of a surface reconstruction driven by the repeated exposition to the reaction at high temperature; it is thought that such reconstruction tends to eliminate defect sites and disfavors C-deposition reactions (extremely fast over steps and kinks). Conditioning with O₂-enriched feed streams makes conditioning faster, since the accumulation of surface C-species is suppressed; however, the catalyst is eventually less active than a catalyst conditioned with standard feed mixtures. As an alternative, accumulation of carbon can be suppressed and surface reconstruction proceeds faster if the catalyst is directly exposed to the reaction at high temperature for several hours.     

A comprehensive investigation of dye–chitosan blended films for green chemistry applications

In this paper, the ability of chitosan film to remove dyestuff from wastewater was evaluated for environmental applications, using three commercial direct azo dyes. Two chitosan films were adopted: the standard one prepared following a well‐known procedure to form it, and a novel one, with a weakly acidic character. Moreover, to improve the adsorption process, the hydrophobic character of the films was investigated. The pH of the dye solutions was also changed, showing an excellent ability in dye removal at pH 12. The films were characterized by means of spectroscopic and morphologic methods to better understand the nature of interactions between dyes and chitosan chains. Swelling ratio measurements were also performed. All analyses suggest that all dyes showed a strong affinity to chitosan polymer chains, with the presence of extended hydrogen bonds and Van der Waals forces perturbing the chitosan network. Interestingly, very good results were obtained in recycling experiments related to the dyeing capacities of chitosan blended films in the presence of textiles. An ecofriendly application is thus presented in this paper. © 2017 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2018 , 135, 45945.