The genetics of situs inversus without primary ciliary dyskinesia

Situs inversus (SI), a left-right mirror reversal of the visceral organs, can occur with recessive Primary Ciliary Dyskinesia (PCD). However, most people with SI do not have PCD, and the etiology of their condition remains poorly studied. We sequenced the genomes of 15 people with SI, of which six had PCD, as well as 15 controls. Subjects with non-PCD SI in this sample had an elevated rate of left-handedness (five out of nine), which suggested possible developmental mechanisms linking brain and body laterality. The six SI subjects with PCD all had likely recessive mutations in genes already known to cause PCD. Two non-PCD SI cases also had recessive mutations in known PCD genes, suggesting reduced penetrance for PCD in some SI cases. One non-PCD SI case had recessive mutations in PKD1L1, and another in CFAP52 (also known as WDR16). Both of these genes have previously been linked to SI without PCD. However, five of the nine non-PCD SI cases, including three of the left-handers in this dataset, had no obvious monogenic basis for their condition. Environmental influences, or possible random effects in early development, must be considered

A 12-month follow-up study of treating overweight schizophrenic patients with aripiprazole

Objective: To investigate the feasibility of switching overweight schizophrenic patients to aripiprazole and to assess the impact of 12 months of aripiprazole treatment on weight in routine practice. Method: This was a non-controlled cohort study in overweight schizophrenic patients. Data were collected before treatment with aripiprazole was started and at 12-month follow-up. Results: A total of 53 patients were included; of these 55% continued using aripiprazole for 12 months. Aripiprazole treatment for 12 months (P = 0.027) and stopping clozapine or olanzapine treatment (P = 0.038) predicted weight loss (>= 3 kg). Patients receiving aripiprazole monotherapy (n = 16, mean -3.0 kg) had similar weight loss than patients receiving aripiprazole in addition to another antipsychotic drug (n = 13, mean -4.4 kg). Conclusion: In routine practice once aripiprazole treatment was started, more than half of the patients remained on aripiprazole and most of them lost weight. Adding aripiprazole to clozapine gave similar weight loss as monotherapy with aripiprazole

An overview of the design, construction and performance of large area triple-GEM prototypes for future upgrades of the CMS forward muon system

GEM detectors are used in high energy physics experiments given their good spatial resolution, high rate capability and radiation hardness. An international collaboration is investigating the possibility of covering the 1.6 < vertical bar eta vertical bar < 2.4 region of the CMS muon endcaps with large-area triple-GEM detectors. The CMS high-eta area is actually not fully instrumented, only Cathode Strip Chamber (CSC) are installed. The vacant area presents an opportunity for a detector technology able to to cope with the harsh radiation environment; these micropattern gas detectors are an appealing option to simultaneously enhance muon tracking and triggering capabilities in a future upgrade of the CMS detector. A general overview of this feasibility study is presented. Design and construction of small (10cm x 10cm) and full-size trapezoidal (1m x 0.5m) triple-GEM prototypes is described. Results from measurements with x-rays and from test beam campaigns at the CERN SPS is shown for the small and large prototypes. Preliminary simulation studies on the expected muon reconstruction and trigger performances of this proposed upgraded muon system are reported

Repeatability and Safety of the Functional Capacity Evaluation-One-Handed for Individuals with Upper Limb Reduction Deficiency and Amputation

Purpose To assess repeatability and safety of the functional capacity evaluation-one-handed (FCE-OH), a FCE-OH individuals, consisting of eight items. Method The FCE-OH protocol was administered twice to 23 individuals with upper limb absence (87% male; median age 46 years; median 2 days between sessions). To examine repeatability, test-retest reliability and agreement were assessed with the intraclass correlations coefficient (ICC) and limits of agreement (LoA), respectively. Reliability was considered acceptable when ICC-values were >= 0.75. Widths of LoA of four tests were compared with those of healthy adults. Safety and pain response were assessed with a questionnaire. Results After controlling for stability of construct, ICC-values ranged between 0.23 and 0.96, and widths of LoA ranged between 16 and 79%. Intertrial (learning) effects were present in three test items. No serious adverse reactions were reported. A pain response was reported by 30% of the participants. Conclusion Good or excellent reliability was observed in five tests, while three items showed poor or moderate test-retest reliability. Interpretation of agreement was possible for four tests, of which three showed widths of LoA similar to those reported in healthy adults. Learning effects were present; therefore, interpretation at the individual level should be performed with care. As the CI of several items were wide, confirmation of results in a larger sample is warranted. Safety was confirmed

Construction and Performance of Large-Area Triple-GEM Prototypes for Future Upgrades of the CMS Forward Muon System

At present, part of the forward RPC muon system of the CMS detector at the CERN LHC remains uninstrumented in the high-\eta region. An international collaboration is investigating the possibility of covering the 1.6 < |\eta| < 2.4 region of the muon endcaps with large-area triple-GEM detectors. Given their good spatial resolution, high rate capability, and radiation hardness, these micro-pattern gas detectors are an appealing option for simultaneously enhancing muon tracking and triggering capabilities in a future upgrade of the CMS detector. A general overview of this feasibility study will be presented. The design and construction of small (10\times10 cm2) and full-size trapezoidal (1\times0.5 m2) triple-GEM prototypes will be described. During detector assembly, different techniques for stretching the GEM foils were tested. Results from measurements with x-rays and from test beam campaigns at the CERN SPS will be shown for the small and large prototypes. Preliminary simulation studies on the expected muon reconstruction and trigger performances of this proposed upgraded muon system will be reported.Comment: 7 pages, 25 figures, submitted for publication in conference record of the 2011 IEEE Nuclear Science Symposium, Valencia, Spai

Performance of a Large-Area GEM Detector Prototype for the Upgrade of the CMS Muon Endcap System

Gas Electron Multiplier (GEM) technology is being considered for the forward muon upgrade of the CMS experiment in Phase 2 of the CERN LHC. Its first implementation is planned for the GE1/1 system in the $1.5 < \mid\eta\mid < 2.2$ region of the muon endcap mainly to control muon level-1 trigger rates after the second long LHC shutdown. A GE1/1 triple-GEM detector is read out by 3,072 radial strips with 455 $\mu$rad pitch arranged in eight $\eta$-sectors. We assembled a full-size GE1/1 prototype of 1m length at Florida Tech and tested it in 20-120 GeV hadron beams at Fermilab using Ar/CO$_{2}$ 70:30 and the RD51 scalable readout system. Four small GEM detectors with 2-D readout and an average measured azimuthal resolution of 36 $\mu$rad provided precise reference tracks. Construction of this largest GEM detector built to-date is described. Strip cluster parameters, detection efficiency, and spatial resolution are studied with position and high voltage scans. The plateau detection efficiency is [97.1 $\pm$ 0.2 (stat)]\%. The azimuthal resolution is found to be [123.5 $\pm$ 1.6 (stat)] $\mu$rad when operating in the center of the efficiency plateau and using full pulse height information. The resolution can be slightly improved by $\sim$ 10 $\mu$rad when correcting for the bias due to discrete readout strips. The CMS upgrade design calls for readout electronics with binary hit output. When strip clusters are formed correspondingly without charge-weighting and with fixed hit thresholds, a position resolution of [136.8 $\pm$ 2.5 stat] $\mu$rad is measured, consistent with the expected resolution of strip-pitch/$\sqrt{12}$ = 131.3 $\mu$rad. Other $\eta$-sectors of the detector show similar response and performance.Comment: 8 pages, 32 figures, submitted to Proc. 2014 IEEE Nucl. Sci. Symposium, Seattle, WA, reference adde

Development and performance of Triple-GEM detectors for the upgrade of the muon system of the CMS experiment

The CMS Collaboration is evaluating GEM detectors for the upgrade of the muon system. This contribution will focus on the R&D performed on chambers design features and will discuss the performance of the upgraded detector

A novel application of Fiber Bragg Grating (FBG) sensors in MPGD

We present a novel application of Fiber Bragg Grating (FBG) sensors in the construction and characterisation of Micro Pattern Gaseous Detector (MPGD), with particular attention to the realisation of the largest triple (Gas electron Multiplier) GEM chambers so far operated, the GE1/1 chambers of the CMS experiment at LHC. The GE1/1 CMS project consists of 144 GEM chambers of about 0.5 m2 active area each, employing three GEM foils per chamber, to be installed in the forward region of the CMS endcap during the long shutdown of LHC in 2108-2019. The large active area of each GE1/1 chamber consists of GEM foils that are mechanically stretched in order to secure their flatness and the consequent uniform performance of the GE1/1 chamber across its whole active surface. So far FBGs have been used in high energy physics mainly as high precision positioning and re-positioning sensors and as low cost, easy to mount, low space consuming temperature sensors. FBGs are also commonly used for very precise strain measurements in material studies. In this work we present a novel use of FBGs as flatness and mechanical tensioning sensors applied to the wide GEM foils of the GE1/1 chambers. A network of FBG sensors have been used to determine the optimal mechanical tension applied and to characterise the mechanical tension that should be applied to the foils. We discuss the results of the test done on a full-sized GE1/1 final prototype, the studies done to fully characterise the GEM material, how this information was used to define a standard assembly procedure and possible future developments.Comment: 4 pages, 4 figures, presented by Luigi Benussi at MPGD 2015 (Trieste, Italy). arXiv admin note: text overlap with arXiv:1512.0848

Charged particle detection performance of Gas Electron Multiplier (GEM) detectors for the upgrade of CMS endcap muon system at the CERN LHC

The Compact Muon Solenoid (CMS) detector is one of the two general-purpose detectors at the CERN LHC. LHC will provide exceptional high instantaneous and integrated luminosity after second long shutdown. The forward region |η| ≥ 1:5 of CMS detector will face extremely high particle rates in tens of kHz/cm2 and hence it will affect the momentum resolution, efficiency and longevity of the muon detectors. Here, η is pseudorapidity defined as η = -ln(tan(θ/2)), where θ is the polar angle measured from z-axis. To overcome these issues the CMSGEM collaboration has proposed to install new large size rate capable Triple Gas Electron Multiplier (GEM) detectors in the forward region of CMS muon system. The first set of Triple GEM detectors will be installed in the GE1/1 region (1:6 <; |η| <; 2.2) of the muon endcap during the long shutdown 2 (LS2) of the LHC. Towards this goal, full size CMS Triple GEM detectors have been fabricated and tested at the CERN SPS, H2 and H4 test beam facility. The GEM detectors were operated with two gas mixtures: Ar/CO2 (70/30) and Ar/CO2/CF4 (45/15/40). In 2014, good quality data was collected during test beam campaigns. In this paper, the performance of the detectors is summarized based on their tracking efficiency and time resolution

Overview of large area triple-GEM detectors for the CMS forward muon upgrade

In order to cope with the harsh environment expected from the high luminosity LHC, the CMS forward muon system requires an upgrade. The two main challenges expected in this environment are an increase in the trigger rate and increased background radiation leading to a potential degradation of the particle ID performance. Additionally, upgrades to other subdetectors of CMS allow for extended coverage for particle tracking, and adding muon system coverage to this region will further enhance the performance of CMS