Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome

Abstract Introduction: Lynch syndrome is caused by germline mutations in one of the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2) or in the EPCAM gene. Lynch syndrome is defined on the basis of clinical, pathological, and genetic findings. Accordingly, the identification of predisposing genes allows for accurate risk assessment and tailored screening protocols. Case Description: Here, we report a family case with three family members manifesting the Lynch syndrome phenotype, all of which harbor the rare variant c.2635-2A>G affecting the splice site consensus sequence of intron 15 of the MSH2 gene. This mutation was previously described only in one family with Lynch syndrome, in which mismatch repair protein expression in tumor tissues was not assessed. In this study, we report for the first time the molecular characterization of the MSH2 c.2635-2A>G variant through in silico prediction analysis, microsatellite instability, and mismatch repair protein expression experiments on tumor tissues of Lynch syndrome patients. The potential effect of the splice site variant was revealed by three splicing prediction bioinformatics tools, which suggested the generation of a new cryptic splicing site. The potential pathogenic role of this variant was also revealed by the presence of microsatellite instability and the absence of MSH2/MSH6 heterodimer protein expression in the tumor cells of cancer tissues of the affected family members. Conclusions: We provide compelling evidence in favor of the pathogenic role of the MSH2 variant c.2635-2A>G, which could induce an alteration of the canonical splice site and consequently an aberrant form of the protein product (MSH2)

The Art of Everyday Objects: A Non-Invasive In Situ Investigation of Materials and Techniques of Italian Pop Art Paintings on Aluminium

Two paintings, made on aluminium support by Silvio Pasotti (among the major exponents of 1960s Italian pop art) were investigated in a totally non-invasive manner to identify the materials used by the artist. Raman spectroscopy, Fourier-transform infrared spectroscopy (FTIR), visible reflectance spectroscopy, and spectrofluorimetry with visible excitation were exploited as molecular analysis techniques, which are particularly suitable to recognise also synthetic organic materials, such as pigments and binders. The effectiveness of this multi-analytical approach was demonstrated, leading to the identification of several synthetic organic pigments, both conventional and “special effect” ones, introduced during the first half of the 20th century, as well as some well-established inorganic ones. Combining FTIR results both in the medium and near IR ranges, considerations regarding the binders employed by the artist could also be made, suggesting the use of both nitrocellulose and acrylic paints. Imaging techniques, such as IR reflectography, false colour IR, UV induced fluorescence, and portable microscopy, were also used to achieve a better knowledge of the painting practice

Determination of Saffron Quality through a Multi-Analytical Approach

Currently, the specifications for the assessment of saffron quality are contained in the ISO 3632 technical standard. This norm evaluates saffron quality through a UV-Vis spectrophotometric method and grades the spice into three commercial categories. However, numerous studies have highlighted several weaknesses and limitations of the ISO method. For this reason, a new multi-analytical approach for the determination of saffron quality is proposed in this work. Different techniques were employed to assess saffron quality: UV-visible spectroscopy (UV-Vis), attenuated total reflectance Fourier transform infrared spectroscopy (ATR-FTIR), scanning electron microscopy coupled with energy dispersive X-ray spectroscopy (SEM-EDX) and inductively coupled plasma—optical emission spectroscopy (ICP-OES). The results show that the commercial grading based on the ISO 3632 methodology is not always in line with the observations made with the other techniques. Moreover, the use of two new techniques in the field of saffron quality determination, i.e., SEM-EDX and ICP-OES, proved to be effective for the determination of elemental composition and metal content, which are two important parameters to take into consideration when assessing the quality of the spice

A Multi-Analytical Approach for the Characterisation of Pigments from an Egyptian Sarcophagus Cover of the Late Dynastic Period: A Case Study

This work is concerned with a multi-analytical identification of the colour palette utilised in the decoration of the cover of an Egyptian sarcophagus dated to the Late Dynastic Period and belonging to a private collection. In this study, six different points were analysed with a portable Raman spectrometer; then, in these same points, six micro-fragments were taken from the sarcophagus for laboratory analysis performed by scanning electron microscopy coupled with energy dispersive X-ray spectroscopy (SEM-EDXS), attenuated total reflectance-Fourier transform infrared spectroscopy (ATR-FTIR) and visible induced luminescence imaging (VIL). Raman spectra collected in situ showed the characteristic bands of calcite, red ochre and black carbon. SEM-EDXS analyses highlighted the presence of a copper-based pigment in the light blue, blue and black fragments; then, the ATR-FTIR spectrum of the light blue sample only displayed the peculiar bands of Egyptian blue. The latter result was confirmed by VIL analysis, which successfully identified the same pigment in blue-black fragments as well, leading to the possible authentication of the finding. Moreover, the presence of calcite, red ochre, green earth and some organic material was assessed by FTIR spectroscopy, confirming some of the results of in situ Raman analyses. Regarding organic materials, whose investigation is still ongoing, some hypotheses were made on the basis of their FTIR spectra

Special-Effect and Conventional Pigments in Black Light Art: A Multi-Technique Approach to an In-Situ Investigation

Since their introduction in the early decades of the 20th century, fluorescent pigments have found progressively wider applications in several fields. Their chemical composition has been optimized to obtain the best physical properties, but is not usually disclosed by the manufacturers. Even the other class of luminescent pigments, namely the phosphorescent ones, is now produced industrially. The peculiar optical properties of these pigments have attracted more and more the attention of famous artists since the middle of the last century. The Italian Black Light Art movement exploits the possibility of conveying different aesthetical messages depending on the kind of radiation (UV or visible) with which the artwork is illuminated. In the present work, a non-invasive in-situ investigation based on Raman, fluorescence, and visible-reflectance spectroscopies was performed on a series of Black Light Art paintings exhibited in Milan (Italy) in 2017, succeeding in the identification of the materials used by the artists. In particular, the use of both fluorescent and phosphorescent pigments, alone or combined with conventional synthetic organic pigments, has been recognized

Restoration of a Textile Artefact: A Comparison of Cleaning Procedures Applied to a Historical Tapestry from the Quirinale Palace (Rome)

The cleaning of textile artefacts and in particular historical tapestries is generally carried out using standard methods. Different cleaning procedures, including a new method based on a hydro-aspiration mechanism, recently developed by restorers with the aim of improving the efficiency of the cleaning system, were applied to a historical tapestry belonging to the lower edge of one of the tapestries of the “Ulysses Stories” series exhibited at the Quirinale Palace (Rome). The tapestry was made of wool and silk and has precious decorations made of metal yarns, which are particularly fragile. The new cleaning system was compared with the traditional methods commonly used by restorers for tapestry cleaning. For this purpose, the quantity and chemical composition of the particles removed and collected on quartz fibre filters by applying the different cleaning systems, were estimated by means of analytical techniques, such as IC (Ion Chromatography) for the quantification of the ionic species collected into the rinsing water, the TOT (Thermal Optical Transmittance) method for the quantification of the carbonaceous particles and SEM-EDX (Scanning Electron Microscopy coupled to Energy Dispersive X-ray Spectroscopy) for yarn morphological characterization and elemental analysis of the deposited particles. The objective of this study is to identify the correct cleaning method to apply to the polymaterial tapestry and, in particular, to the gilded silver and gold metallic yarns, whose conservation state requires the preservation of the “self-protection” patina necessary for the future exhibition inside the Quirinale Palace. The new hydro-aspiration method was found to be more efficient in removing dirt and preserving the structure of the metallic threads being in this way less invasive in detaching the fragile surface patina and at the same time more effective in removing dirt

Widening the Scope of \u201cInherently Chiral\u201d Electrodes: Enantiodiscrimination of Chiral Electroactive Probes with Planar Stereogenicity

A series of planar-stereogenicity ferrocenes, important as chiral promoters in enantioselective catalysis, is characterized in terms of relationships between structure and electronic properties. The enantiomers of six selected model cases are then successfully discriminated in voltammetry experiments on electrodes modified with electrodeposited inherently chiral oligomer films, in terms of significant potential differences, specular inverting probe or selector configuration. Small substituent changes do not alter the enantiomer peak sequence, but result in significant modulation of peak potential differences, which appear consistent with the availability of chiral/selector matching elements. The present stereogenic plane case, combined with former ones involving stereogenic centers, axes, and/or helices, shows that the inherent chirality strategy in electroanalysis can be effective with all four rigid stereogenic elements