Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant

Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novel CACNA1G variant. Two individuals from successive generations developed episodes of transient dizziness, gait unsteadiness, a sensation of fall triggered by head movements, headache, and cheek numbness. These were suppressed by carbamazepine (CBZ) administration in the proband, although acetazolamide and topiramate worsened instability, and amitriptyline and flunarizine did not prevent headache spells. On examination, the horizontal head impulse test (HIT) yielded saccadic responses bilaterally and was accompanied by cerebellar signs. Two additional family members were asymptomatic, with normal neurological examinations. Reduced vestibulo-ocular reflex gain values, overt and covert saccades were shown by video-assisted HIT in affected subjects. Hearing acuity was normal. Whole-exome sequencing demonstrated the heterozygous CACNA1G missense variant c.6958G>T (p.Gly2320Cys) in symptomatic individuals. It was absent in 1 unaffected member (not tested in the other asymptomatic individual) and should be considered likely pathogenic. CACNA1G encodes for the pore-forming, a1G subunit of the T-type voltage-gated calcium channel (VGCC), in which currents are transient owing to fast inactivation, and tiny, due to small conductance. Mutations in CACNA1G cause generalized absence epilepsy and adult-onset, dominantly inherited, spinocerebellar ataxia type 42. In this kindred, the aforementioned CACNA1G variant segregated with disease, which was consistent with episodic vestibulocerebellar ataxia. CBZ proved successful in bout prevention and provided symptomatic benefit in the proband, probably as a result of interaction of this drug with VGCC. Further studies are needed to fully determine the vestibular and neurological manifestations of this form of episodic vestibulocerebellar ataxia. This novel disease variant could be designated episodic vestibulocerebellar ataxia type 10. © 2021 The Author(s). Published by S. Karger AG, Basel

Synchrotron radiation photoionization mass spectrometry of laser ablated species

The present paper describes an experimental apparatus suitable to create and study free clusters by combining laser ablation and synchrotron radiation. First tests on sulfur samples, S, showed the production, through laser ablation, of neutral Sn clusters (n = 1–8). These clusters were ionized using synchrotron radiation at photon energies from 160 eV to 175 eV, across the S 2p core edge. The feasibility of such combined ablation–synchrotron radiation experiments is demonstrated, opening new possibilities on the investigation of free clusters and radical

On the variability of HD 170699 - a possible COROT target

We present the analysis of the variability of HD 170699, a COROT star showing the characteristics of a non evolutionary Delta Scuti star with high rotational velocity. There is a clear period of 10.45 c/d with 5.29 mmag amplitude in the y filter. From the data, it can be seen that the star shows multi-periodicity and it is necessary to add more frequencies to adjust the observationsComment: To appear in RevMexAA(SC) in Proceedings of XII Reunion Regional Latinoamericana de la UAI held in Isla Margarita, Venezuela, October 22-26, 200

Laser Driven Neutron Sources: Characteristics, Applications and Prospects

The basics of laser driven neutron sources, properties and possible applications are discussed. We describe the laser driven nuclear processes which trigger neutron generation, namely, nuclear reactions induced by laser driven ion beam (ion n), thermonuclear fusion by implosion and photo-induced nuclear (gamma n) reactions. Based on their main properties, i.e. point source (<100 μm) and short durations (< ns), different applications are described, such as radiography, time-resolved spectroscopy and pump-probe experiments. Prospects on the development of laser technology suggest that, as higher intensities and higher repetition rate lasers become available (for example, using DPSSL technology), laser driven methodologies may provide neutron fluxes comparable to that achieved by accelerator driven neutron sources in the near future

Canonical Quantization of Noncommutative Field Theory

A simple method to canonically quantize noncommutative field theories is proposed. As a result, the elementary excitations of a (2n+1)-dimensional scalar field theory are shown to be bilocal objects living in an (n+1)-dimensional space-time. Feynman rules for their scattering are derived canonically. They agree, upon suitable redefinitions, with the rules obtained via star-product methods. The IR/UV connection is interpreted within this framework.Comment: 8 pages, 1 figur

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth. Objectives We sought to identify the genetic cause of CPVT in this family, to preventively treat and clinically characterize the mutation-positive individuals, and to functionally characterize the pathogenic mechanisms of the mutation. Methods Genetic testing was performed for 1404 relatives. Mutation-positive individuals were preventively treated with β-blockers and clinically characterized with a serial exercise treadmill test (ETT) and Holter monitoring. In vitro functional studies included caffeine sensitivity and store overload–induced calcium release activity of the mutant channel in HEK293 cells. Results We identified the p.G357S_RyR2 mutation, in the cardiac ryanodine receptor, in 179 family members and in 6 SCD cases. No SCD was observed among treated mutation-positive individuals over a median follow-up of 37 months; however, 3 relatives who had refused genetic testing (confirmed mutation-positive individuals) experienced SCD. Holter monitoring did not provide relevant information for CPVT diagnosis. One single ETT was unable to detect complex cardiac arrhythmias in 72% of mutation-positive individuals, though the serial ETT improved the accuracy. Functional studies showed that the G357S mutation increased caffeine sensitivity and store overload–induced calcium release activity under conditions that mimic catecholaminergic stress. Conclusion Our study supports the use of genetic testing to identify individuals at risk of SCD to undertake prophylactic interventions. We also show that the pathogenic mechanisms of p.G357S_RyR2 appear to depend on β-adrenergic stimulation

A study of nuclear effect in F3F_3 structure function in the deep inelastic ν(νˉ)\nu(\bar\nu) reactions in nuclei

We study nuclear effect in the $F^A_3(x)$ structure function in the deep inelastic neutrino reactions on iron by taking into account Fermi motion, binding, target mass correction, shadowing and anti-shadowing corrections. Calculations have been done in a local density approximation using relativistic nuclear spectral functions which include nucleon correlations for nuclear matter. Results for $F^A_3(x)$ have been compared with the results reported at NuTeV and also with some of the older experiments reported in the literature.Comment: 4Pages, 4 Figures To appear in the AIP Proceedings of the Sixth International Workshop on Neutrino-Nucleus Interactions in the Few-GeV Region, May 18th - 22nd, 2009 held at Sitges, Barcelona (Spain

On the UV renormalizability of noncommutative field theories

UV/IR mixing is one of the most important features of noncommutative field theories. As a consequence of this coupling of the UV and IR sectors, the configuration of fields at the zero momentum limit in these theories is a very singular configuration. We show that the renormalization conditions set at a particular momentum configuration with a fixed number of zero momenta, renormalizes the Green's functions for any general momenta only when this configuration has same set of zero momenta. Therefore only when renormalization conditions are set at a point where all the external momenta are nonzero, the quantum theory is renormalizable for all values of nonzero momentum. This arises as a result of different scaling behaviors of Green's functions with respect to the UV cutoff ($\Lambda$) for configurations containing different set of zero momenta. We study this in the noncommutative $\phi^4$ theory and analyse similar results for the Gross-Neveu model at one loop level. We next show this general feature using Wilsonian RG of Polchinski in the globally O(N) symmetric scalar theory and prove the renormalizability of the theory to all orders with an infrared cutoff. In the context of spontaneous symmetry breaking (SSB) in noncommutative scalar theory, it is essential to note the different scaling behaviors of Green's functions with respect to $\Lambda$ for different set of zero momenta configurations. We show that in the broken phase of the theory the Ward identities are satisfied to all orders only when one keeps an infrared regulator by shifting to a nonconstant vacuum.Comment: 29 pages, 8 figures, uses JHEP.cls, references adde