Retinitis pigmentosa and ocular motility alterations: new frontiers, review

Purpose: To carry out a review of the literature on alterations in extraocular motility in Retinitis Pigmentosa (RP), focusing on the possible genetic basis of ocular alterations. Design: Systematic review Methods: The search of publications was carried out using the databases: Scopus, PubMed, Google Scholar, Web of Science, considering clinical cases, case reports, and systematic reviews of ocular motility alterations in the Retinitis Pigmentosa in the literature. The words: “ocular motility alterations, Retinitis Pigmentosa, orthoptic evaluation, case reports, clinical cases, systematic reviews” were used. Results: A total of 2 articles from 2006–2022 were retrieved: No other ocular motility alterations clinical cases linked to RP were found before. Particularly, a study conducted on patients affected by typical RP showed that there was an impaired motility in 50% of them. Since RP is a genetically determined disease, in reference to the studies analyzed, the absence of eye movement disorders in a percentage of the sample could be related to the different penetrance of the disease that determines the existence of healthy carriers. Conclusion: Therefore, it would be important to search for a possible correlation between the genetic mutations involved in this hereditary disorder and the deficits in extraocular motility, in order to make an early diagnosis of RP in genetically predisposed subjects. The existence of alterations of extraocular motility in subjects with RP, indicates that a careful orthoptic screening can allow a further contribution to an early diagnosis of this disease, especially in subjects with positive family history and healthy carriers

Dynamics of charge-displacement channeling in intense laser-plasma interactions

The dynamics of transient electric fields generated by the interaction of high intensity laser pulses with underdense plasmas has been studied experimentally with the proton projection imaging technique. The formation of a charged channel, the propagation of its front edge and the late electric field evolution have been characterised with high temporal and spatial resolution. Particle-in-cell simulations and an electrostatic, ponderomotive model reproduce the experimental features and trace them back to the ponderomotive expulsion of electrons and the subsequent ion acceleration.Comment: 5 figures, accepted for publication in New Journal of Physic

Colorimetric detection of chromium(VI) ions in water using unfolded-fullerene carbon nanoparticles

Water pollution caused by hexavalent chromium (Cr(VI)) ions represents a serious hazard for human health due to the high systemic toxicity and carcinogenic nature of this metal species. The optical sensing of Cr(VI) through specifically engineered nanomaterials has recently emerged as a versatile strategy for the application to easy-to-use and cheap monitoring devices. In this study, a one-pot oxidative method was developed for the cage opening of C60 fullerene and the synthesis of stable suspensions of N-doped carbon dots in water–THF solutions (N-CDs-W-THF). The N-CDs-W-THF selectively showed variations of optical absorbance in the presence of Cr(VI) ions in water through the arising of a distinct absorption band peaking at 550 nm, i.e., in the transparency region of pristine material. Absorbance increased linearly, with the ion concentration in the range 1–100 µM, thus enabling visual and ratiometric determination with a limit of detection (LOD) of 300 nM. Selectivity and possible interference effects were tested over the 11 other most common heavy metal ions. The sensing process occurred without the need for any other reactant or treatment at neutral pH and within 1 min after the addition of chromium ions, both in deionized and in real water sam-ples

Soft laser-plasma X-ray source for differential absorption imaging of tracing elements in thin samples

The differential imaging technique is particularly suitable for the detection of small concentrations of contrasts agents for biological and medical applications in samples using X-ray radiography. In this paper, we present an application of this technique using a laser-plasma soft X-ray source combined with a bent crystal. Using a Fresnel plate as a test object, we were able to obtain spatial resolutions of the order of a few tens of microns. The use of our configuration to perform differential imaging of a test-sample at the L2 edge of Br at 1,596 eV is finally demonstrated

Obesity as a social phenomenon: A narrative review

BACKGROUND: obesity is one of the most prevalent diseases all over the world. Because of its high social impact, the broadest possible approach on several levels - and not limited only to clinical aspect - is needed to better understand and face the challenges obesity poses to public health. OBJECTIVES: to analyse, through the main evidence, the so- cial impact of weight excess in the general population and the actions aimed at mitigating its negative effects. DESIGN: narrative review. SETTING: data obtained from the sources included in the study were gathered and analyzed in five macroareas: Health Inequality, Society, Work, Impact on Social Medicine (focused on the Italian model), and Social Costs. RESULTS: each category showed a bilateral relationship with obesity having a significant impact for the community. CONCLUSIONS: for each field, various actions should be taken at institutional level. Many recommendations and actions have already been taken worldwide, but they alone seem to be not enough. This work points out that, in order to combat obesity and bring about a slowdown of this pandemic, the en- tire scientific community and institutions must work together to identify and design programmes that are truly effective

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus

NONO (Non-Pou Domain-Containing Octamer-Binding Protein) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized by developmental delay, intellectual disability, poor language, dysmorphic facial features, and microcephaly. Structural brain malformation, such as corpus callosum and cerebellar abnormalities, and heart defects, in particular left ventricular non-compaction (LVNC), represent the most recurrent congenital malformations, recorded both in about 80% of patients, and can be considered the distinctive imaging findings of this disorder. We present on a further case of NONO-related disease; prenatally diagnosed in a fetus with complete corpus callosum agenesis; absence of septum pellucidum; pericallosal artery; LVNC and Ebstein’s anomaly. A high-resolution microarray analysis demonstrated the presence of a deletion affecting the NONO 3′UTR; leading to a marked hypoexpression of the gene and the complete absence of the protein in cultured amniocytes. This case expands the mutational spectrum of MRXS34, advises to evaluate NONO variants in pre- and postnatal diagnosis of subjects affected by LVNC and other heart defects, especially if associated with corpus callosum anomalies and confirm that CNVs (Copy Number Variants) represent a non-negligible cause of Mendelian disorders

Multi-GeV Electron Spectrometer

The advance in laser plasma acceleration techniques pushes the regime of the resulting accelerated particles to higher energies and intensities. In particular the upcoming experiments with the FLAME laser at LNF will enter the GeV regime with almost 1pC of electrons. From the current status of understanding of the acceleration mechanism, relatively large angular and energy spreads are expected. There is therefore the need to develop a device capable to measure the energy of electrons over three orders of magnitude (few MeV to few GeV) under still unknown angular divergences. Within the PlasmonX experiment at LNF a spectrometer is being constructed to perform these measurements. It is made of an electro-magnet and a screen made of scintillating fibers for the measurement of the trajectories of the particles. The large range of operation, the huge number of particles and the need to focus the divergence present unprecedented challenges in the design and construction of such a device. We will present the design considerations for this spectrometer and the first results from a prototype.Comment: 7 pages, 6 figures, submitted to NIM

Observation of plasma density dependence of electromagnetic soliton excitation by an intense laser pulse

The experimental evidence of the correlation between the initial electron density of the plasma and electromagnetic soliton excitation at the wake of an intense (1019 Wcm2) and short (1 ps) laser pulse is presented. The spatial distribution of the solitons, together with their late time evolution into post-solitons, is found to be dependent upon the background plasma parameters, in agreement with published analytical and numerical findings. The measured temporal evolution and electrostatic field distribution of the structures are consistent with their late time evolution and the occurrence of multiple merging of neighboring post-solitons. © 2011 American Institute of Physics

Prospect for Charge Current Neutrino Interactions Measurements at the CERN-PS

Tensions in several phenomenological models grew with experimental results on neutrino/antineutrino oscillations at Short-Baseline (SBL) and with the recent, carefully recomputed, antineutrino fluxes from nuclear reactors. At a refurbished SBL CERN-PS facility an experiment aimed to address the open issues has been proposed [1], based on the technology of imaging in ultra-pure cryogenic Liquid Argon (LAr). Motivated by this scenario a detailed study of the physics case was performed. We tackled specific physics models and we optimized the neutrino beam through a full simulation. Experimental aspects not fully covered by the LAr detection, i.e. the measurements of the lepton charge on event-by-event basis and their energy over a wide range, were also investigated. Indeed the muon leptons from Charged Current (CC) (anti-)neutrino interactions play an important role in disentangling different phenomenological scenarios provided their charge state is determined. Also, the study of muon appearance/disappearance can benefit of the large statistics of CC muon events from the primary neutrino beam. Results of our study are reported in detail in this proposal. We aim to design, construct and install two Spectrometers at "NEAR" and "FAR" sites of the SBL CERN-PS, compatible with the already proposed LAr detectors. Profiting of the large mass of the two Spectrometers their stand-alone performances have also been exploited.Comment: 70 pages, 38 figures. Proposal submitted to SPS-C, CER