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Marcella Nebbioso,1,* Antonietta Moramarco,1,* Alessandro Lambiase,1 Sandra Giustini,2 Marco Marenco,1 Emanuele Miraglia,2 Pasquale Fino,2 Chiara Iacovino,2 Ludovico Alisi1 1Department of Sense Organs, Sapienza University of Rome, Rome, Italy; 2Department of Dermatology, Sapienza University of Rome, Rome, Italy*These authors contributed equally to this workCorrespondence: Alessandro LambiaseDepartment of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, Rome 00161, ItalyTel +390649975357Fax +390649975425Email alessandro.lambiase@uniroma1.itIntroduction: Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of Nf1 gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation. Patients are characterized by a wide range of dermatological, neurological, and ophthalmological symptoms.Purpose: The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient.Methods: The study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT).Results: NF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT).Conclusion: The present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1.Keywords: electrophysiologic testing, frequency doubling technology Matrix perimetry, FDT, neurofibromatosis type 1, optic glioma, pattern visual evoked potentials

Thermoplastic poly(phenylene oxide) (PPO)-matrix composites were prepared and characterized in order to evaluate the effect of different ceramic fillers on the thermal and combustion behavior of the matrix. In particular, ceramic particles having three different shapes were exploited as fillers, particles showing a platelet-like, a needle-like or an equiaxial morphology. The composite materials were produced through a melt blending method, which yielded a homogeneous distribution of the ceramic particles in the organic matrix. It was demonstrated that the presence of the inorganic particles influenced the temperature range in which the degradation processes of the polymer occurred. In addition, the three fillers modified the thermal behavior of PPO differently in terms of enthalpy. Finally, the presence of the filler induced a change in combustion behavior of the polymeric matrix; in particular, sepiolite was able to increase the charring ability of the PPO/polystyrene blend with the development of a visible carbonaceous layer.

Abstract Atopic dermatitis (AD) is a highly heterogeneous chronic inflammatory skin disorder that is frequently associated with a plethora of comorbidities. AD is, therefore, considered a systemic disease impacted by a considerable burden and leading to poor quality of life, especially in patients with moderate-to-severe disease. Since atopic and non-atopic comorbidities can further worsen the disease course, accurate establishment of the patient’s individual intrinsic risk profile and needs is crucial and may help in guiding the selection of the best treatment option. Better quality of care for patients with AD can be delivered through a multidisciplinary team led by a dermatologist, for comprehensive patient management. The implementation of a multidisciplinary approach for AD could enhance the delivery of optimised and safe treatments, improve the standard of care and patient outcomes in the short and long term, and prevent or delay the lifelong impact of uncontrolled AD. Understanding the unmet needs, assessing correctly the patient risk profile and enhancing the shared patient–physician decision-making process can lead to disease control and quality-of-life improvement, especially in the context of the introduction of newer treatment for AD. This narrative review is a call for more data to establish standardised patient profiles and multidisciplinary strategies in AD management. In view on the fast-evolving treatments for AD, this review aims at highlighting the importance of a multidisciplinary approach to a comprehensive assessment and holistic care in patients with moderate-to-severe AD.

Abstract Purpose Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI. To address this medical need, this study is aimed to design and validate a new method called ‘BLUES’ (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI. Methods Sixty-two patients affected by OI and 35 healthy controls were enrolled in the present prospective study, for a total of 194 eyes analyzed. In the 'BLUES' procedure, eye images from patients with OI and control subjects were analyzed to assess and grade the blue level of the sclera using Adobe Photoshop Software. The validation process then involved comparing the results obtained with the ‘BLUES’ procedure to the judgement of experienced ophthalmologists (JEO). A receiver-operating characteristic (ROC) curve analysis was used to examine the overall discriminatory power. The sensitivity and specificity levels and the Cohen's Kappa (K) indexes of ‘BLUES’ and ‘JEO’ were estimated versus the standard OI diagnosis. The K indexes of ‘BLUES’ versus ‘JEO’ were also evaluated. Results The optimal cut-off point of the scleral blue peak was calculated at 17%. Our findings demonstrated a sensitivity of 89% (CI95%: 0.835–0.945) and specificity of 87% (CI95%: 0.791–0.949) for the ‘BLUES’ procedure with an agreement versus the diagnosis of OI of 0.747. In comparison, the sensitivity and specificity of ‘JEO’ ranged from 89 to 94% and 77% to 100%, respectively, with an agreement ranging from 0.663 to 0.871 with the diagnosis of OI. The agreement between ‘BLUES ‘and ‘JEO’ evaluations ranged from 0.613 to 0.734. Conclusions Our findings demonstrated an 89% sensitivity and an impressive 87% specificity of our method to analyze the blue sclera in OI. The results indicated high agreement with disease diagnosis and were consistent with evaluations by experienced ophthalmologists. The ‘BLUES’ procedure appears to be a simple, reliable and objective method for effectively identify and quantify the blue color of the sclera in OI.

We previously established a thermodynamical model to calculate the specific frequencies of extremely low frequency-electromagnetic field (ELF-EMF) able to arrest the growth of cancer cells. In the present study, for the first time, we investigated the efficacy of this technology on osteosarcoma, and we applied a precise frequency of the electromagnetic field on three human osteosarcoma cell lines, grown as adherent cells and spheroids. We evaluated the antitumour efficacy of irradiation in terms of response to chemotherapeutic treatments, which is usually poor in this type of cancer. Importantly, the results of this novel combinatorial approach revealed that the specific exposure can potentiate the efficacy of several chemotherapeutic drugs, both on bidimensional and tridimensional cancer models. The effectiveness of cisplatinum, methotrexate, ifosfamide and doxorubicin was greatly increased by the concomitant application of the specific ELF-EMF. Moreover, our experiments confirmed that ELF-EMF inhibited the proliferation and modulated the mitochondrial metabolism of all cancer models tested, whereas mesenchymal cells were not affected. The latter finding is extremely valuable, given the importance of preserving the cell reservoir necessary for tissue regeneration after chemotherapy. Altogether, this novel evidence opens new avenues to the clinical applications of ELF-EMF in oncology.

Abstract In Italy the fertility rate is very low, and an increasing number of patients are infertile and require treatments. The Italian Law concerning the safety of patient care, and the professional liability of health professionals, indicates that health professionals must comply with the recommendations set out in the guidelines developed by public and private bodies and institutions, as well as scientific societies and technical-scientific associations of the health professions, except for specific cases. Unfortunately, no guideline for the diagnosis and the management of infertility is currently available in Italy. In 2019, the Italian Society of Human Reproduction pointed out the need to produce Italian guidelines and subsequently approved the establishment of a multidisciplinary and multiprofessional working group (MMWG) to develop such a guideline. The MMWG was representative of 5 scientific societies, one national federation of professional orders, 3 citizens' and patients' associations, 5 professions (including lawyer, biologist, doctor, midwife, and psychologist), and 3 medical specialties (including medical genetics, obstetrics and gynecology, and urology). The MMWG chose to adapt a high-quality guideline to the Italian context instead of developing one from scratch. Using the Italian version of the Appraisal of Guidelines for Research and Evaluation II scoring system, the National Institute of Clinical Excellence guidelines were selected and adapted to the Italian context. The document was improved upon by incorporating comments and suggestions where needed. This study presents the process of adaptation and discusses the pros and cons of the often-neglected choice of adapting rather than developing new guidelines.

ABSTRACTThis current study investigates the effect of Direct Energy Deposition (DED) process conditions on the properties and microstructure of M300 maraging steel samples. The investigation centers on two key factors: laser power and deposition environment. The microstructure of this tool steel is analyzed by computing the Primary Cellular Arm Spacing. The findings revealed a significant influence of both inert atmosphere and laser power on cooling conditions. These different cooling rates influence the phase content as demonstrated by X-Ray Diffraction and Electron Backscatter Diffraction measurements. It was demonstrated the presence of different content of residual austenite at cell boundaries. These distinct microstructural features caused variations in the hardness values of the printed samples. Furthermore, a direct aging heat treatment was implemented, that was chosen from Differential Scanning Calorimetry measurements results. This heat treatment proves effective in achieving consistent hardness increases and eliminated the differences among samples built in different process conditions. This outcome suggests the possibility of selecting the most economically viable DED parameters for optimal results.

Mutations in the human PURA gene cause the neurodevelopmental PURA syndrome. In contrast to several other monogenetic disorders, almost all reported mutations in this nucleic acid-binding protein result in the full disease penetrance. In this study, we observed that patient mutations across PURA impair its previously reported co-localization with processing bodies. These mutations either destroyed the folding integrity, RNA binding, or dimerization of PURA. We also solved the crystal structures of the N- and C-terminal PUR domains of human PURA and combined them with molecular dynamics simulations and nuclear magnetic resonance measurements. The observed unusually high dynamics and structural promiscuity of PURA indicated that this protein is particularly susceptible to mutations impairing its structural integrity. It offers an explanation why even conservative mutations across PURA result in the full penetrance of symptoms in patients with PURA syndrome.

In this article, we consider the Cauchy problem for a semi-linear wave equation with time-dependent damping and memory nonlinearity. Conditions for global existence are presented in the energy space H1(Rn)×L2(Rn){H}^{1}\left({{\mathbb{R}}}^{n})\times {L}^{2}\left({{\mathbb{R}}}^{n}), n≥1n\ge 1.

In recent years, advanced digital technologies have driven an outstanding paradigm shift in the field of architectural heritage, particularly for building modelling, historical documentation and touristic promotion. Nonetheless, they show great potentialities in the field of assessment and control of the state of conservation of heritage buildings. In particular, close-range and aerial photogrammetry have increasingly relied on low-cost and user-friendly tools and procedures, with a high degree of automation that makes them accessible to specialists who are foremost involved in architectural diagnosis and conservation, rather than in remote sensing sciences. In this framework, this paper provides a scoping review of 117 publications, based on the PRISMA protocol, from Scopus and Web of Science databases, related to the employment of photogrammetric models and methods, with specific focus on the targets and purposes of the diagnostic process, including decay mapping, structural monitoring and modelling, non-destructive investigation and multi-source documentation. In detail, the results point out that current studies mainly support robust processing of large amounts of information from direct observation of surface alterations, systematic correlation between materials, construction characteristics, visible anomalies and experimental measurements, as well as multi-disciplinary collaborative workflows through remote inspection and harmonized data management. Further improvements were identified, including standardization of acquisition procedures, automatization of elaboration pipelines, integration of real-time data, validation of diagnosis decision-making support tools and scalability to networks of assets.