Readout electronics for the SiPM tracking plane in the NEXT-1 prototype

NEXT is a new experiment to search for neutrinoless double beta decay using a 100 kg radio-pure high-pressure gaseous xenon TPC with electroluminescence readout. A large-scale prototype with a SiPM tracking plane has been built. The primary electron paths can be reconstructed from time-resolved measurements of the light that arrives to the SiPM plane. Our approach is to measure how many photons have reached each SiPM sensor each microsecond with a gated integrator. We have designed and tested a 16-channel front-end board that includes the analog paths and a digital section. Each analog path consists of three different stages: a transimpedance amplifier, a gated integrator and an offset and gain control stage. Measurements show good linearity and the ability to detect single photoelectrons. © 2011 Elsevier B.V.The authors would like to acknowledge the support of the NEXT Collaboration, the DATE team at CERN PH-AID and the CONSOLIDER-INGENIO2010 grant CSD2008-0037 (Canfranc Underground Physics) from the Spanish Ministry of Science and Innovation.Herrero Bosch, V.; Toledo Alarcón, JF.; Català Pérez, JM.; Esteve Bosch, R.; Gil Ortiz, A.; Lorca, D.; Monzó Ferrer, JM.... (2012). Readout electronics for the SiPM tracking plane in the NEXT-1 prototype. Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. 695:229-232. https://doi.org/10.1016/j.nima.2011.12.057S22923269

Infección periprotésica aguda de rodilla por fusobacterium nucleatum. Revisión de la literatura a propósito de un caso.

Fusobacterium Nucleatum is an anaerobic commensal microorganism present in the oral cavity and some mucous membranes with great capacity to form biofilm. In the literature, only one case of acute periprosthetic infection of the knee by Fusobacterium Nucleatum has been reported, providing the second case. A 72-year-old man presented with an acute periprosthetic infection by fusobacterium nucleatum after a second time of a prosthetic knee replacement. Debridement and spacer changes were performed up to 4 times, associating parenteral antibiotic treatment. After ensuring the absence of infection, a modular revision knee prosthesis with stems was placed, with a satisfactory evolution after two years. Currently he has preserved ambulation, joint balance of 0º-50º and is free of infection. Fusobacterium Nucleatum infection is very rare, but aggressive and difficult to resolve, recommending two-stage replacement in acute infection and adequate antibiotic treatment to offer curative treatment

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood appr

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations