Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Familial dilated cardiomyopathy (DCM) is a heterogeneous disease; although 30 disease genes have been discovered, they explain only no more than half of all cases; in addition, the causes of intra-familial variability in DCM have remained largely unknown. In this study, we exploited the use of whole-exome sequencing (WES) to investigate the causes of clinical variability in an extended family with 14 affected subjects, four of whom showed particular severe manifestations of cardiomyopathy requiring heart transplantation in early adulthood. This analysis, followed by confirmative conventional sequencing, identified the mutation p.K219T in the lamin A/C gene in all 14 affected patients. An additional variant in the gene for titin, p.L4855F, was identified in the severely affected patients. The age for heart transplantation was substantially less for LMNA:p.K219T/TTN:p.L4855F double heterozygotes than that for LMNA:p.K219T single heterozygotes. Myocardial specimens of doubly heterozygote individuals showed increased nuclear length, sarcomeric disorganization, and myonuclear clustering compared with samples from single heterozygotes. In conclusion, our results show that WES can be used for the identification of causal and modifier variants in families with variable manifestations of DCM. In addition, they not only indicate that LMNA and TTN mutational status may be useful in this family for risk stratification in individuals at risk for DCM but also suggest titin as a modifier for DCM

LA RIFLETTOGRAFIA INFRAROSSA RIR

La riflettografia infrarossa (IR) consente l'esame di dipinti, senza danneggiare il supporto, utilizzando i raggi infrarossi. Questa è una tecnica che consente di studiare la tela o la tavola in modo da scoprire quello che vi è sotto ed eventuali successivi restauri intervenuti nel tempo[1]. L'apparecchiatura rilascia dei riflettogrammi che hanno l'aspetto di immagini in bianco e nero che consentono di scoprire le tracce del disegno, tracciato dall'artista, per la costruzione del dipinto. Vengono qui illustrati casi studio ed esperienze maturate nell'ambito delle indagini effettuate nel corso di Tecnologie e Diagnostica per la Conservazione ed il Restauro dell'Università di Camerino ad Ascoli Piceno

DIY bioplastics from peanut hulls waste in a starch-milk based matrix

A self-produced (DIY) material has been developed from peanut hulls waste in a starch-milk based matrix, which has been referred to as Peanmat. This is obtained after some attempts, which are also shown, of including this waste in a DIY bioplastic. It shows some potential in terms of sustaining its own load and to make small objects, such as buttons, for design purposes. Its limits were clarified by thermal characterisation in terms of not being able to exceed temperatures of around 80°C and suffering non uniform deformation, especially in the case its thickness does not go beyond a few millimetres. Colouration tests proved effective. Of course, the material is in search of full mechanical characterisation though it proved suitable to be punched and did not suffer fragmentation or excessive porosity

Analisi non invasive e digitalizzazione per la fruizione dello “Sposalizio della Vergine” del Guercino

The famous painting “Sposalizio della Vergine” by Giovanni Francesco Barbieri, also known as Guercino, was realized in 1649 for the Mariotti family altar in the San Paterniano church in Fano (Italy). During the XIX century it was stolen but then fortunately recovered, even if in extremely poor conditions. The painting was restored and acquired by Fondazione Cassa di Risparmio di Fano in 1969. Through the application of non-invasive techniques, it was evaluated its conservation state and a mapping of the pictorial reintegrations was achieved. Multispectral imaging analyses (Infrared Refl ectography, Infrared False Color photography, Ultraviolet Fluorescence, Raking Light) provided also information on the painting technique that is coherent with the Guercino modus operandi already reported in literature. For example, the underdrawing is absent as in other Guercino’s paintings. Moreover, raking light images and macro-photography revealed the characteristics of the original canvas support, no more visible due to the lining intervention carried out in a previous restoration. Lastly, as far as concern the analysis of the materials, XRF (X-ray Fluorescence spectroscopy), FT-IR (Fourier Transform Infrared Spectroscopy) and FORS (UVVIS- NIR Fiber Optics Refl ectance Spectroscopy) were combined to characterize the artist’s palette. As blue pigment, the precious lapis lazuli was extensively used by the artist, and this suggested a very high price for the execution of the painting. Alongside the non-invasive diagnostic analyses, a 3D digitalization of the altarpiece was exploited to document its whole structure but also fi nest details, providing an effective medium to enable virtual ways to enjoy the painting. Indeed, thanks to a digital facsimile, it is possible to develop solutions able to generate different relationships between the work of art and its observer, letting him know its contents, its techniques, its expressive and aesthetic meaning. The mobile application presented in this paper is specifi cally designed as an intermediary between the “Sposalizio della Vergine” by Guercino and the user, a tool of XIII International Conference - Naples 14 - 15 - 16 December 2022 26

Investigation of flax yarns from italian paintings using AFM mechanical characterization

International audiencePrevious studies have shown the interest in using Atomic Force Microscopy (AFM) to investigate the parietal mechanicalproperties of hemp or flax fibres, in correlation with their structure or maturity (1–3), especially in PeakForce QuantitativeNanomechanical Property Mapping (PF-QNM) mode. However, this technique is relatively new, and its application is oftenlimited to the engineering and biological fields, but the small quantity of the sample required make it a useful tool also to studymaterials from the cultural heritage. In this research, two yarns of few centimetres were taken from the back of four Italianpaintings of the art gallery of Ascoli Piceno, dated around 1600-1700, and one yarn of each pair was selected for the AFMmechanical characterization. PF-QNM analysis was performed with a Multimode AFM (Bruker Corporation, USA) equipped witha RTESPA-525 probe (Bruker Corporation, USA) and a maximum load of 200 nN; the cantilever was carefully calibrated using theSader method and the indentation modulus of Highly Oriented Pyrolytic Graphite (HOPG) was taken as reference

Central and Peripheral Nervous System Complications of Vasculitis Syndromes from Pathology to Bedside: Part 2-Peripheral Nervous System

Purpose of ReviewPeripheral nervous system vasculitides (PNSV) are a heterogeneous group of disorders with a clinical subset that may differ in prognosis and therapy. We provide a comprehensive update on the clinical assessment, diagnosis, complications, treatment, and follow-up of PNSV.Recent FindingsProgress in neuroimaging, molecular testing, and peripheral nerve biopsy has improved clinical assessment and decision-making of PNSV, also providing novel insights on how to prevent misdiagnosis and increase diagnostic certainty. Advances in imaging techniques, allowing to clearly display the vessel walls, have also enhanced the possibility to differentiate inflammatory from non-inflammatory vascular lesions, while recent histopathology data have identified the main morphological criteria for more accurate diagnosis and differential diagnoses. Overall, the identification of peculiar morphological findings tends to improve diagnostic accuracy by defining a clearer boundary between systemic and non-systemic neuropathies. Therefore, the definition of epineurium vessel wall damage, type of vascular lesion, characterization of lymphocyte populations, antibodies, and inflammatory factors, as well as the identification of direct nerve damage or degeneration, are the common goals for pathologists and clinicians, who will both benefit for data integration and findings translation. Nevertheless, to date, treatment is still largely empiric and, in some cases, unsatisfactory, thus often precluding precise prognostic prediction. In this context, new diagnostic techniques and multidisciplinary management will be essential in the proper diagnosis and prompt management of PNSV, as highlighted in the present review.Thirty to fifty percent of all patients with vasculitis have signs of polyneuropathy. Neuropathies associated with systemic vasculitis are best managed according to the guidelines of the underlying disease because appropriate workup and initiation of treatment can reduce morbidity. Steroids, or in severe or progressive cases, cyclophosphamide pulse therapy is the standard therapy in non-systemic vasculitic neuropathies. Some patients need long-term immunosuppression. The use of novel technologies for high-throughput genotyping will permit to determine the genetic influence of related phenotypes in patients with PNSV

CHARACTERIZATION OF HISTORICAL MASONRY MORTAR FROM SITES DAMAGED DURING THE CENTRAL ITALY 2016-2017 SEISMIC SEQUENCE: THE CASE STUDY OF ARQUATA DEL TRONTO

Mortar quality is a fundamental parameter to take into account when studying the structural behavior of masonry, especially under seismic actions. Separation between the leaves of rubble masonry can occur, inducing the partial or total collapse of the construction. A good quality mortar is essential to delay/prevent the separation of leaves, but often, especially in ancient building with a cultural value, mortars have low binder capabilities. The paper presents an experimental investigation on mortar specimens taken from buildings of a little municipality in Marche region, Arquata del Tronto, heavily damaged by recent earthquakes in Central Italy (2016-2017). Both diagnostic techniques as X-Ray diffraction, Fourier-Transform infrared spectroscopy and calcimetry, and mechanical test as compression tests were carried out in order to correlate the obtained values with the performance of the original masonry