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

Electromagnetic characterization of the 990 ton gapless magnets for the OPERA experiment

The instrumented targets of the OPERA neutrino experiment are complemented by two massive spectrometers based on gapless iron magnets. In 2006, a systematic assessment of their electromagnetic properties have been carried out. In this document, we report the results of such characterization and demonstrate that the achieved performance fulfill the physics requirements for the study of νμ→ντ oscillations

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

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

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