Performance studies of the Belle II Silicon Vertex Detector with data taken at the DESY test beam in April 2016

Belle II is a multipurpose detector currently under construction which will be operated at the next generation B-factory SuberKEKB in Japan. Its main devices for the vertex reconstruction are the Silicon Vertex Detector (SVD) and the Pixel Detector (PXD). In April 2016 a sector of the Belle II SVD and PXD have been tested in a beam of high energetic electrons at the test beam facility at DESY Hamburg (Germany). We report here the results for the hit efficiency estimation and the measurement of the resolution for the Belle II silicon vertex etector. We find that the hit efficiencies are on average above 99.5% and that the measured resolution is within the expectations

The Belle II SVD detector

The Silicon Vertex Detector (SVD) is one of the main detectors in the Belle II experiment at KEK, Japan. In combination with a pixel detector, the SVD determines precise decay vertex and low-momentum track reconstruction. The SVD ladders are being developed at several institutes. For the development of the tracking algorithm as well as the performance estimation of the ladders, beam tests for the ladders were performed. We report an overview of the SVD development, its performance measured in the beam test, and the prospect of its assembly and commissioning until installation

Performance studies of the Belle II Silicon Vertex Detector with data taken at the DESY test beam in April 2016

Belle II is a multipurpose detector currently under construction which will be operated at the next generation B-factory SuberKEKB in Japan. Its main devices for the vertex reconstruction are the Silicon Vertex Detector (SVD) and the Pixel Detector (PXD). In April 2016 a sector of the Belle II SVD and PXD have been tested in a beam of high energetic electrons at the test beam facility at DESY Hamburg (Germany). We report here the results for the hit efficiency estimation and the measurement of the resolution for the Belle II silicon vertex etector. We find that the hit efficiencies are on average above 99.5% and that the measured resolution is within the expectations

The challenges of developing a contrast-based video game for treatment of amblyopia

Perceptual learning of visual tasks is emerging as a promising treatment for amblyopia, a developmental disorder of vision characterized by poor monocular visual acuity. The tasks tested thus far span the gamut from basic psychophysical discriminations to visually complex video games. One end of the spectrum offers precise control over stimulus parameters, whilst the other delivers the benefits of motivation and reward that sustain practice over long periods. Here, we combined the advantages of both approaches by developing a video game that trains contrast sensitivity, which in psychophysical experiments, is associated with significant improvements in visual acuity in amblyopia. Target contrast was varied adaptively in the game to derive a contrast threshold for each session. We tested the game on 20 amblyopic subjects (10 children and 10 adults), who played at home using their amblyopic eye for an average of 37 sessions (approximately 11 h). Contrast thresholds from the game improved reliably for adults but not for children. However, logMAR acuity improved for both groups (mean = 1.3 lines; range = 0–3.6 lines). We present the rationale leading to the development of the game and describe the challenges of incorporating psychophysical methods into game-like settings

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

<p>Abstract</p> <p>Background</p> <p>Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D₃(1,25(OH)₂D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the <it>PHEX </it>gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies.</p> <p>Methods</p> <p>Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the <it>PHEX </it>gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test.</p> <p>Results</p> <p>Mutations in the <it>PHEX </it>gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)₂D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013).</p> <p>Conclusions</p> <p><it>PHEX </it>gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious <it>PHEX </it>mutations had lower TRP and 1,25(OH)₂D levels suggesting that the <it>PHEX </it>type of mutation might predict the XLHR phenotype severity.</p

Belle II silicon vertex detector (SVD)

The Belle II experiment at the SuperKEKB collider in Japan will operate at an unprecedented luminosity of 8 71035 cm 122s 121, about 40 times larger than its predecessor, Belle. Its vertex detector is composed of a two-layer DEPFET pixel detector (PXD) and a four layer double-sided silicon microstrip detector (SVD). To achieve a precise decay-vertex position determination and excellent low-momentum tracking under a harsh background condition and high trigger rate of 10 kHz, the SVD employs several innovative techniques. In order to minimize the parasitic capacitance in the signal path, 1748 APV25 ASIC chips, which read out signal from 224 k strip channels, are directly mounted on the modules with the novel Origami concept. The analog signal from APV25 are digitized by a flash ADC system, and sent to the central DAQ as well as to online tracking system based on SVD hits to provide region of interests to the PXD for reducing the latter\u2019s data size to achieve the required bandwidth and data storage space. Furthermore, the state-of-the-art dual phase CO2 cooling solution has been chosen for a combined thermal management of the PXD and SVD system. In this proceedings, we present key design principles, module construction and integration status of the Belle II SVD

Belle II Vertex Detector Performance

The Belle II experiment at the SuperKEKB accelerator (KEK, Tsukuba, Japan) collected its first e+e− collision data in the spring 2019. The aim of accumulating a 50 times larger data sample than Belle at KEKB, a first generation B-Factory, presents substantial challenges to both the collider and the detector, requiring not only state-of-the-art hardware, but also modern software algorithms for tracking and alignment. The broad physics program requires excellent performance of the vertex detector, which is composed of two layers of DEPFET pixels and four layers of double sided-strip sensors. In this contribution, an overview of the vertex detector of Belle II and our methods to ensure its optimal performance, are described, and the first results and experiences from the first physics run are presented

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

BACKGROUND: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders. METHODS: The molecular analysis of the GNAS gene and locus identified the causal alteration in 74 subjects (46 genetic and 28 epigenetic mutations). The clinical data at the diagnosis and their evolution during up to 15 years follow-up were collected using two different cards. RESULTS: In patients with genetic mutations the growth impairment worsen during the time, while obesity prevalence decreases; subcutaneous ossifications seem specific for this group. Brachydactyly has been detected in half of the subjects with epigenetic alterations, in which the disease overts later in life, often with symptomatic hypocalcaemia, and also early TSH and GHRH resistances have been recorded. CONCLUSIONS: A dedicated healthcare pathway addressing all these aspects in a systematic way would improve the clinical management, allowing an earlier recognition of some PHP features, the optimization of their medical treatment and a better clinical-oriented molecular analysis. Furthermore, standardized follow-up data would provide new insight into less known aspects