Search results for "BN"
showing 10 items of 1136 documents
Testing for new physics with low-energy anti-neutrino sources: LAMA as a case study
1998
Some electroweak models with extended neutral currents, such as those based on the $E_6$ group, lead to an increase of the $\bar{\nu}-e$ scattering cross section at energies below 100 keV. We propose to search for the heavy Z' boson contribution in an experiment with a high-activity artificial neutrino source and with a large-mass detector. We present the case for the LAMA experiment with a large NaI(Tl) detector located at the Gran Sasso underground laboratory. The neutrino flux is known to within a one percent accuracy, in contrast to the reactor case and one can reach lower neutrino energies. Both features make our proposed experiment more sensitive to extended gauge models, such as the …
WT1 isoform expression pattern in acute myeloid leukemia.
2013
WT1 plays a dual role in leukemia development, probably due to an imbalance in the expression of the 4 main WT1 isoforms. We quantify their expression and evaluate them in a series of AML patients. Our data showed a predominant expression of isoform D in AML, although in a lower quantity than in normal CD34+ cells. We found a positive correlation between the total WT1 expression and A, B and C isoforms. The overexpression of WT1 in AML might be due to a relative increase in A, B and C isoforms, together with a relative decrease in isoform D expression.
A Learning Automaton-based Scheme for Scheduling Domestic Shiftable Loads in Smart Grids
2017
In this paper, we consider the problem of scheduling shiftable loads, over multiple users, in smart electrical grids. We approach the problem, which is becoming increasingly pertinent in our present energy-thirsty society, using a novel distributed game-theoretic framework. In our specific instantiation, we consider the scenario when the power system has a local-area Smart Grid subnet comprising of a single power source and multiple customers. The objective of the exercise is to tacitly control the total power consumption of the customers’ shiftable loads, so to approach the rigid power budget determined by the power source, but to simultaneously not exceed this threshold. As opposed to the…
SARS-CoV-2 mRNA Vaccine Breakthrough Infections in Fully Vaccinated Healthcare Personnel: A Systematic Review
2022
The number of people vaccinated against COVID-19 increases worldwide every day; however, it is important to study the risk of breakthrough infections in vaccinated individuals at high risk of exposure such as healthcare personnel (HCP). A systematic literature review (SLR) applying the PRISMA declaration and the PECOS format using the following entry terms was used: “Health Personnel OR Healthcare Worker OR Healthcare Provider OR Healthcare Personnel AND breakthrough OR infection after vaccine*”. The research was carried out utilizing the following databases: SCOPUS, PubMed, Embase, and Web of Sciences. An overall very low incidence of post-vaccination breakthrough infections was found, ran…
First experimental study of photon polarization in radiative B0s decays.
2017
The polarization of photons produced in radiative $B^{0}_{s}$ decays is studied for the first time. The data are recorded by the LHCb experiment in $pp$ collisions corresponding to an integrated luminosity of 3fb$^{-1}$ at center-of-mass energies of $7$ and $8$TeV. A time-dependent analysis of the $B^{0}_{s} \to \phi \gamma$ decay rate is conducted to determine the parameter ${\mathcal{A}}^\Delta$, which is related to the ratio of right- over left-handed photon polarization amplitudes in $b \to s \gamma$ transitions. A value of ${\mathcal{A}}^\Delta=-0.98^{\,+0.46\,+0.23}_{\,-0.52\,-0.20}$ is measured. This result is consistent with the Standard Model prediction within two standard deviatio…
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited S…
2005
Supernumerary marker chromosomes (SMCs) are frequently found at pre- and postnatal cytogenetic diagnosis and require identification. A disproportionally large subset of SMCs is derived from the human chromosome 22 and confers tri- or tetrasomy for the cat eye chromosomal region (CECR, the proximal 2 Mb of chromosome 22q) and/or other segments of 22q. Using fluorescence in situ hybridization (FISH) and 15 different DNA probes, we studied nine unrelated patients with an SMC(22) that contained the CECR. Five patients showed the small (type I) cat eye syndrome (CES) chromosome and each one had the larger (type II) CES chromosome, small ring chromosome 22, der(22)t(11;22) extrachromosome, and a …
An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.
1995
Retinitis pigmentosa is the most prevalent inherited disorder of the retina. It can be autosomal dominant (adRP), autosomal recessive (arRP) or X-linked (XLRP). A form of adRP mapping to chromosome 7q was reported in a large Spanish pedigree. We have typed DNA from the members of another Spanish family for polymorphic markers from the known candidate genes. Positive lod scores were obtained only for the markers located on 7q31-35, giving a maximum lod score of 2.98 (3.01 by multipoint analysis) at theta = 0.00 for D7S480. A brief clinical evaluation is given.
Comparative architectural aspects of regions of conserved synteny on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1)
2001
Human chromosome 11p15.3 is associated with chromosome aberrations in the Beckwith Wiedemann Syndrome and implicated in the pathogenesis of different tumor types including lung cancer and leukemias. To date, only single tumor-relevant genes with linkage to this region (e.g. LMO1) have been found suggesting that this region may harbor additional potential disease associated genes. Although this genomic area has been studied for years, the exact order of genes/chromosome markers between D11S572 and the WEE1 gene locus remained unclear. Using the FISH technique and PAC clones of the flanking markers we determined the order of the genomic markers. Based on these clones we established a PAC cont…
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skel…
2007
A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies <30 kb upstream of the HOXB gene cluster and immediately adjacent to the 3′ end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory …
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
2012
Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN-Russe (25%) and HMSN-Lom (17.86%). The relevant frequency of HMSN-Russe has allowed us to inv…