Ocular manifestations in Gorlin-Goltz syndrome

Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients. Results: Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients. Conclusions: The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients

Innovative Uses of Rain Screen Cladding. CFD and Gas Dispersion Analysis of a Prototype

Abstract In this work, both CFD and CH 4 dispersion analysis in rain screen cladding were carried out, in order to reduce the visual impact of Natural Gas distribution network in civil buildings ensuring high safety standards. In the first part of the work it was conducted the parametric analysis in order to identify the main physical parameters that influence the air velocity in air-gap. Subsequently, CFD simulations were carried out in order to evaluate how the geometric and constructive characteristics can influence the air velocity inside the cavity. In particular, were realized both 2D and 3D models, and was used Ansys Fluent 6.3 software. Finally, Natural Gas dispersion analysis was carried out, in order to evaluate the safety against explosive atmosphere

Interaction of Cd(II) and Ni(II) terpyridine complexes with model polynucleotides: a multidisciplinary approach

Two metal complexes of 2,2′:6′,2″-terpyridine (terpy), i.e. Cd(terpy)Cl2 and Ni(terpy)Cl2·3H2O, have been prepared and extensively characterized. The interaction of Cd(terpy)Cl2 with synthetic DNA models, poly(dA-dT)·poly(dA-dT) (polyAT) and poly(dG-dC)·poly(dG-dC) (polyGC), has been studied by CD, fluorescence and UV-vis electronic absorption spectroscopy at several metal/polynucleotide-phosphate ratios and for different NaCl concentrations. All the experimental results indicate an intercalative mechanism of interaction. The optimized geometry of the cadmium complex intercalated between the sixth and seventh base pairs of (AT) and (GC) dodecanucleotide duplexes, obtained by quantum mechanics/molecular mechanics (QM/MM) calculations, lends support to the proposed mechanism. The calculated models provide some additional structural details of the intercalation complex at the molecular level. To evidence the influence of the charge and geometry of the metal complex on the mechanism of interaction with polynucleotides, the nickel complex-polyAT system has been studied to some extent by means of CD and UV-vis spectroscopy, and by thermal melting experiments. The results suggest that the octahedral complex cation [Ni(terpy)(H2O)2Cl]+ interacts with polyAT by partial intercalation assisted by electrostatic interaction with the negative charges of the backbone phosphate groups

Seasonal effect on the technological and chemical traits of sheep "ricotta Pistoiese" cheese

The "ricotta di pecora pistoiese" is comprised in the list of the traditional agrofood products of Tuscany and the relative PDO (Protected Designation of Origin) has be required. This research, analysing the making process, aimed to evaluate its chemical and nutritive traits as influenced by some factors, with particular attention to the season. During the four seasons of two consecutive years, the making process of ricotta cheese was monitored in four farms for a total of 32 control-days. Yields, chemical composition and fatty acid profile of fat were determined. The amount of milk added to whey influenced the fat and protein content and the yields at 0 and 24 hours. Season affected only the protein content, higher in winter and spring. Fatty acid composition was influenced strongly by the season being the ricotta cheese of summer richer of monounsaturated and polyunsaturated FA than that of autumn and winter, probably due to the feeding regimen based mainly on fresh grass

The rest-frame UV-to-optical spectroscopy of APM 08279+5255 - BAL classification and black hole mass estimates

We present the analysis of the rest-frame optical-to-UV spectrum of APM 08279+5255, a well-known lensed broad absorption line (BAL) quasar at $z = 3.911$. The spectroscopic data are taken with the optical DOLoRes and near-IR NICS instruments at TNG, and include the previously unexplored range between C III] $\lambda$1910 and [O III] $\lambda\lambda$4959,5007. We investigate the possible presence of multiple BALs by computing "balnicity" and absorption indexes (i.e. BI, BI$_0$ and AI) for the transitions Si IV $\lambda$1400, C IV $\lambda$1549, Al III $\lambda$1860 and Mg II $\lambda$2800. No clear evidence for the presence of absorption features is found in addition to the already known, prominent BAL associated to C IV, which supports a high-ionization BAL classification for APM 08279+5255. We also study the properties of the [O III], H$\beta$ and Mg II emission lines. We find that [O III] is intrinsically weak ($F_{\rm [OIII]}/F_{\rm H\beta} \lesssim 0.04$), as it is typically found in luminous quasars with a strongly blueshifted C IV emission line ($\sim$2500 km s$^{-1}$ for APM 08279+5255). We compute the single-epoch black hole mass based on Mg II and H$\beta$ broad emission lines, finding $M_{\rm BH} = (2 \div 3) \times 10^{10}\mu^{-1}$ M$_\odot$, with the magnification factor $\mu$ that can vary between 4 and 100 according to CO and rest-frame UV-to-mid-IR imaging respectively. Using a Mg II equivalent width (EW)-to-Eddington ratio relation, the EW$_{\rm MgII} \sim 27$ \AA\ measured for APM 08279+5255 translates into an Eddington ratio of $\sim$0.4, which is more consistent with $\mu=4$. This magnification factor also provides a value of $M_{\rm BH}$ that is consistent with recent reverberation-mapping measurements derived from C IV and Si IV.Comment: 10 pages, 4 figures, 4 tables, accepted for publication in A&

Hyperpigmented spots at fundus examination: a new ocular sign in neurofibromatosis type I

Background: Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibromin, a protein with oncosuppressive activity, and it is 50% sporadic or inherited. The disease is characterized by a broad spectrum of clinical manifestations, mainly involving the nervous system, the eye and skin, and a predisposition to develop multiple benign and malignant neoplasms. Ocular diagnostic hallmarks of NF1 include optic gliomas, iris Lisch nodules, orbital and eyelid neurofibromas, eyelid café-au-lait spots. Choroidal nodules and microvascular abnormalities have recently been identified as additional NF1-related ocular manifestations. The present study was designed to describe the features and clinical significance of a new sign related to the visual apparatus in NF-1, represented by hyperpigmented spots (HSs) of the fundus oculi. Results: HSs were detected in 60 (24.1%) out of 249 patients with NF1, with a positive predictive value of 100% and a negative predictive value of 44.2%. None of the healthy subjects (150 subjects) showed the presence of HSs. HSs were visible under indirect ophthalmoscopy, ultra-wide field (UWF) pseudocolor imaging and red-only laser image, near-infrared reflectance (NIR)-OCT, but they were not appreciable on UWF green reflectance. The location and features of pigmentary lesions matched with the already studied NF1-related choroidal nodules. No significant difference was found between the group of patients (n = 60) with ocular HSs and the group of patients (n = 189) without ocular pigmented spots in terms of age, gender or severity grading of the disease. A statistically significant association was demonstrated between the presence of HSs and neurofibromas (p = 0.047), and between the presence of HSs and NF1-related retinal microvascular abnormalities (p = 0.017). Conclusions: We described a new ocular sign represented by HSs of the fundus in NF1. The presence of HSs was not a negative prognostic factor of the disease. Following multimodal imaging, we demonstrated that HSs and choroidal nodules were consistent with the same type of lesion, and simple indirect ophthalmoscopy allowed for screening of HSs in NF1

Disappearance of quasi-periodic-eruptions (QPEs) in GSN 069, simultaneous X-ray re-brightening, and predicted QPE re-appearance

We study the short- and long-timescale properties of quasi-periodic eruptions (QPEs) in GSN 069 and its overall X-ray evolution over the past 11 yr using 11 XMM-Newton and 1 Chandra observations from December 2010 to December 2021. QPEs are a transient phenomenon in GSN 069 last detected in January 2020 with a life-time between 1 and 5.5 yr. On short timescales, the QPE intensity and recurrence time oscillate defining alternating strong/weak QPEs and long/short recurrence times. The quiescent level variability in observations with QPEs exhibits a quasi-periodic oscillation (QPO) at the average observation-dependent recurrence time peaking with a delay of a few hr w.r.t. the preceding QPE. A significant late-time X-ray re-brightening starting with the QPE disappearance is observed in the long-term light curve of the quiescent emission, and the overall X-ray evolution follows the relation expected from constant-area blackbody emission. QPEs in GSN 069 are consistent with being produced by repeating tidal stripping events of a white dwarf (WD) donor in a highly eccentric orbit around the supermassive black hole, one QPE being produced at each pericenter passage. Our data suggest that the WD was partially disrupted when QPEs disappeared in GSN 069, giving rise to the observed X-ray re-brightening. We predict the re-appearance of QPEs in GSN 0699 in the near future with different recurrence times than currently detected QPEs, as the surviving core will again suffer a series of tidal stripping events at pericenter passage.Comment: Submitted to A&A. Comments welcom