Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation

Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reductase activity, have been linked to rare human disorders. Phenotypes range from a benign blood disorder, such as Pelger-Huet anomaly (PHA), affecting the morphology and chromatin organization of white blood cells, to embryonic lethality as for Greenberg dysplasia (GRBGD). Existing PHA mouse models do not fully recapitulate the human phenotypes, hindering efforts to understand the molecular etiology of this disorder. Here we show, using CRISPR/Cas-9 gene editing technology, that a 236bp N-terminal deletion in the mouse Lbr gene, generating a protein missing the N-terminal domains of LBR, presents a superior model of human PHA. Further, we address recent reports of a link between Lbr and defects in X chromosome inactivation (XCI) and show that our mouse mutant displays minor X chromosome inactivation defects that do not lead to any overt phenotypes in vivo. We suggest that our N-terminal deletion model provides a valuable pre-clinical tool to the research community and will aid in further understanding the etiology of PHA and the diverse functions of LBR

Interrater reliability of qualitative ultrasound assessment of gastric content in the third trimester of pregnancy

Q1Q11018-1023Background Pulmonary aspiration of gastric contents in pregnant women undergoing general anaesthesia is one of the most feared complications in obstetric anaesthesia. Bedside gastric ultrasonography is a feasible imaging tool to assess the gastric content. The purpose of this study was to investigate the reliability of qualitative bedside assessment of the gastric content performed by anaesthesiologists on third trimester pregnant women. Methods Pregnant women (≥32 weeks gestational age) were randomized to undergo ultrasound (US) assessments of their stomach in a fasting state (>8 h), or after ingestion of clear fluids only, or solid food. Three anaesthesiologists trained in gastric ultrasonography performed the assessments using a low-frequency curved-array US transducer (5–2 MHz). Primary outcome of the study was the consistency of raters in diagnosing the correct status of the gastric content, which was used to determine the interrater reliability among the three anaesthesiologists. Secondary outcomes were overall proportion of correct and incorrect diagnoses and the specific proportions of correct diagnosis across the three gastric content groups. Results We analysed 32 pregnant women. The interrater reliability displayed a kappa statistic of 0.74 (bias corrected 95% CI: 0.68–0.84). The overall proportion of correct diagnosis was 87.5% (84 of 96). The odds of correct diagnosis for ‘solid contents' were 16.7 times the odds for ‘empty', and 14.3 times for ‘clear fluid'. Conclusions Our results show the consistency of the qualitative US assessment of gastric contents of pregnant women in the third trimester by anaesthesiologists. A kappa of 0.74 suggests substantial agreement in terms of interrater reliability for this diagnostic measurement

Search for CP Violation in the Decay Z -> b (b bar) g

About three million hadronic decays of the Z collected by ALEPH in the years 1991-1994 are used to search for anomalous CP violation beyond the Standard Model in the decay Z -> b \bar{b} g. The study is performed by analyzing angular correlations between the two quarks and the gluon in three-jet events and by measuring the differential two-jet rate. No signal of CP violation is found. For the combinations of anomalous CP violating couplings, ${\hat{h}}_b = {\hat{h}}_{Ab}g_{Vb}-{\hat{h}}_{Vb}g_{Ab}$ and $h^{\ast}_b = \sqrt{\hat{h}_{Vb}^{2}+\hat{h}_{Ab}^{2}}$, limits of \hat{h}_b < 0.59$and$h^{\ast}_{b} < 3.02$ are given at 95\% CL.Comment: 8 pages, 1 postscript figure, uses here.sty, epsfig.st

Hadron Energy Reconstruction for the ATLAS Calorimetry in the Framework of the Non-parametrical Method

This paper discusses hadron energy reconstruction for the ATLAS barrel prototype combined calorimeter (consisting of a lead-liquid argon electromagnetic part and an iron-scintillator hadronic part) in the framework of the non-parametrical method. The non-parametrical method utilizes only the known $e/h$ ratios and the electron calibration constants and does not require the determination of any parameters by a minimization technique. Thus, this technique lends itself to an easy use in a first level trigger. The reconstructed mean values of the hadron energies are within $\pm 1$ of the true values and the fractional energy resolution is $[(58\pm3)/\sqrt{E}+(2.5\pm0.3)$. The value of the $e/h$ ratio obtained for the electromagnetic compartment of the combined calorimeter is $1.74\pm0.04$ and agrees with the prediction that $e/h > 1.7$ for this electromagnetic calorimeter. Results of a study of the longitudinal hadronic shower development are also presented. The data have been taken in the H8 beam line of the CERN SPS using pions of energies from 10 to 300 GeV.Comment: 33 pages, 13 figures, Will be published in NIM

Perioperative thirst: an analysis from the perspective of the Symptom Management Theory

A theoretical study aimed to analyze the existing knowledge in the literature on the perioperative thirst symptom from the perspective of Symptom Management Theory, and supplemented with the experience of the study group and thirst research. Thirst is described as a very intense symptom occurring in the perioperative period, and for this reason it cannot be ignored. The Symptom Management Theory is adequate for understanding the thirst symptom and is a deductive theory, focused on the domains of the Person, Environment and Health / Illness Status, as well as on the dimensions of Experience, Management Strategies and Symptom Outcomes. Using the theory leads us to consider perioperative thirst in its multifactorial aspects, analyzing the interrelation of its domains and dimensions in order to draw attention to this symptom that has been insufficiently valued, recorded and treated in clinical practice

Response of the ATLAS tile calorimeter prototype to muons

A study of high energy muons traversing the ATLAS hadron Tile calorimeter in the barrel region in the energy range between 10 and 300~GeV is presented. Both test beam experimental data and Monte Carlo simulations are given and show good agreement. The Tile calorimeter capability of detecting isolated muons over the above energy range is demonstrated. A signal to background ratio of about 10 is expected for the nominal LHC luminosity ($10^{34} cm^{-2} sec^{-1}$). The photoelectron statistics effect in the muon shape response is shown. The e/mip ratio is found to be $0.81 \pm 0.03$; the e/$\mu$ ratio is in the range 0.91 - 0.97. The energy loss of a muon in the calorimeter, dominated by the energy lost in the absorber, can be correlated to the energy loss in the active material. This correlation allows one to correct on an event by event basis the muon energy loss in the calorimeter and therefore reduce the low energy tails in the muon momentum distribution

Evaluation of Fermi Read-out of the ATLAS Tilecal Prototype

Prototypes of the \fermi{} system have been used to read out a prototype of the \atlas{} hadron calorimeter in a beam test at the CERN SPS. The \fermi{} read-out system, using a compressor and a 40 MHz sampling ADC, is compared to a standard charge integrating read-out by measuring the energy resolution of the calorimeter separately with the two systems on the same events. Signal processing techniques have been designed to optimize the treatment of \fermi{} data. The resulting energy resolution is better than the one obtained with the standard read-out

A measurement of the energy loss spectrum of 150 GeV muons in iron

The energy loss spectrum of 150 GeV muons has been measured with a prototype of the ATLAS hadron calorimeter in the H8 beam of the CERN SPS.\\ The differential probability $dP/dv$ per radiation length of a fractional energy loss $v = \Delta E_{\mu} / E_{\mu}$ has been measured in the range $v = 0.01 \div 0.95$; it is then compared with the theoretical predictions for energy losses due to bremsstrahlung and production of electron-positron pairs or of energetic knock-on electrons.\\ The integrated probability $\int_{0.01}^{0.95} (dP/dv) dv$ is $(1.610\pm0.015_{stat.}\pm0.105_{syst.})\cdot10^{-3}$ in agreement with the theoretical predictions of $1.556\cdot10^{-3}$ and $1.619\cdot10^{-3}$. %7.8.96 - start Agreement with theory is also found in two intervals of $v$ where production of electron-positron pairs and knock-on electrons dominates. In the region of bremsstrahlung dominance ($v = 0.12\div0.95$) the measured integrated probability $(1.160\pm0.040_{stat}\pm0.075_{syst})\cdot 10^{-4}$ is in agreement with the theoretical value of $1.185 \cdot 10^{-4}$, obtained using Petrukhin and Shestakov's \cite{PS} description of the bremsstrahlung process. The same result is about 3.6 standard deviations (defined as the quadratic sum of statistical and systematic errors) lower than the theoretical prediction of $1.472\cdot 10^{-4}$, obtained using Tsai's \cite{TS} description of bremsstrahlung

Four-fermion production in e+e−e^+e^- collisions at centre-of-mass energies of 130 and 136 GeV

Four-fermion events have been selected in a data sample of 5.8 pb−1 collected with the aleph detector at centre-of-mass energies of 130 and 136 GeV. The final states , ℓ+ℓ−ℓ+ℓ−, , and have been examined. Five events are observed in the data, in agreement with the Standard Model predictions of 6.67±0.38 events from four-fermion processes and 0.14−0.05+0.19 from background processes