Wolcott-Rallison syndrome

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. Fewer than 60 cases have been described in the literature, although WRS is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous parents. Typically, diabetes occurs before six months of age, and skeletal dysplasia is diagnosed within the first year or two of life. Other manifestations vary between patients in their nature and severity and include frequent episodes of acute liver failure, renal dysfunction, exocrine pancreas insufficiency, intellectual deficit, hypothyroidism, neutropenia and recurrent infections. Bone fractures may be frequent. WRS is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3), also known as PKR-like endoplasmic reticulum kinase (PERK). PERK is an endoplasmic reticulum (ER) transmembrane protein, which plays a key role in translation control during the unfolded protein response. ER dysfunction is central to the disease processes. The disease variability appears to be independent of the nature of the EIF2AK3 mutations, with the possible exception of an older age at onset; other factors may include other genes, exposure to environmental factors and disease management. WRS should be suspected in any infant who presents with permanent neonatal diabetes associated with skeletal dysplasia and/or episodes of acute liver failure. Molecular genetic testing confirms the diagnosis. Early diagnosis is recommended, in order to ensure rapid intervention for episodes of hepatic failure, which is the most life threatening complication. WRS should be differentiated from other forms of neonatal/early-onset insulin-dependent diabetes based on clinical presentation and genetic testing. Genetic counselling and antenatal diagnosis is recommended for parents of a WRS patient with confirmed EIF2AK3 mutation. Close therapeutic monitoring of diabetes and treatment with an insulin pump are recommended because of the risk of acute episodes of hypoglycaemia and ketoacidosis. Interventions under general anaesthesia increase the risk of acute aggravation, because of the toxicity of anaesthetics, and should be avoided. Prognosis is poor and most patients die at a young age. Intervention strategies targeting ER dysfunction provide hope for future therapy and prevention

Search for supersymmetry in events with b jets and missing transverse momentum at the LHC

A search for supersymmetry is presented using a sample of events with b jets and missing transverse momentum. The search uses a data sample of proton-proton collisions at a centre-of-mass energy of 7TeV, corresponding to an integrated luminosity of 35 pb(-1), collected with the CMS detector. A total of 0.33(-0.33)(+0.43) (stat.) +/- 0.13 (syst.) events is predicted, using control samples in the data, to arise from standard model processes, and one event is observed in the data. Upper limits are set at the 95% confidence level on the cross sections of benchmark supersymmetric models

Indications of suppression of excited Υ states in Pb-Pb collisions at √sNN = 2.76TeV

This is the pre-print version of the Published Article which can be accessed from the link below.A comparison of the relative yields of Υ resonances in the μ+μ- decay channel in Pb-Pb and pp collisions at a center-of-mass energy per nucleon pair of 2.76 TeV is performed with data collected with the CMS detector at the LHC. Using muons of transverse momentum above 4  GeV/c and pseudorapidity below 2.4, the double ratio of the Υ(2S) and Υ(3S) excited states to the Υ(1S) ground state in Pb-Pb and pp collisions, [Υ(2S+3S)/Υ(1S)]Pb-Pb/[Υ(2S+3S)/Υ(1S)]pp, is found to be 0.31-0.15+0.19(stat)±0.03(syst). The probability to obtain the measured value, or lower, if the true double ratio is unity, is calculated to be less than 1%

Measurement of the t-channel single top quark production cross section in pp collisions at √s = 7TeV

This is the pre-print version of the Published Article which can be accessed from the link below.Electroweak production of the top quark is measured for the first time in pp collisions at √s=7  TeV, using a data set collected with the CMS detector at the LHC and corresponding to an integrated luminosity of 36  pb-1. With an event selection optimized for t-channel production, two complementary analyses are performed. The first one exploits the special angular properties of the signal, together with background estimates from the data. The second approach uses a multivariate analysis technique to probe the compatibility with signal topology expected from electroweak top-quark production. The combined measurement of the cross section is 83.6±29.8(stat+syst)±3.3(lumi)  pb, consistent with the standard model expectation

Search for same-sign top-quark pair production at root s=7 TeV and limits on flavour changing neutral currents in the top sector

An inclusive search for same-sign top-quark pair production in pp collisions at root s = 7 TeV is performed using a data sample recorded with the CMS detector in 2010, corresponding to an integrated luminosity of 35 pb(-1). This analysis is motivated by recent studies of p (p) over bar -> t (t) over bar reporting mass-dependent forward-backward asymmetries larger than expected from the standard model. These asymmetries could be due to Flavor Changing Neutral Currents (FCNC) in the top sector induced by t -channel exchange of a massive neutral vector boson (Z'). Models with such a Z' also predict enhancement of same-sign top-pair production in pp or pp collisions. Limits are set as a function of the Z' mass and its couplings to u and t quarks. These limits disfavour the FCNC interpretation of the Tevatron results

Search for dijet resonances in 7 TeV pp collisions at CMS

This is the Pre-print version of the Article. The official published version of the paper can be accessed from the link below - Copyright @ 2010 APSA search for narrow resonances in the dijet mass spectrum is performed using data corresponding to an integrated luminosity of 2.9  pb-1 collected by the CMS experiment at the Large Hadron Collider. Upper limits at the 95% confidence level are presented on the product of the resonance cross section, branching fraction into dijets, and acceptance, separately for decays into quark-quark, quark-gluon, or gluon-gluon pairs. The data exclude new particles predicted in the following models at the 95% confidence level: string resonances, with mass less than 2.50 TeV, excited quarks, with mass less than 1.58 TeV, and axigluons, colorons, and E6 diquarks, in specific mass intervals. This extends previously published limits on these models.This work is supported by FMSR (Austria); FNRS and FWO (Belgium); CNPq, CAPES, FAPERJ, and FAPESP (Brazil); MES (Bulgaria); CERN; CAS, MoST, and NSFC (China); COLCIENCIAS (Colombia); MSES (Croatia); RPF (Cyprus); Academy of Sciences and NICPB (Estonia); Academy of Finland, ME, and HIP (Finland); CEA and CNRS/IN2P3 (France); BMBF, DFG, and HGF (Germany); GSRT (Greece); OTKA and NKTH (Hungary); DAE and DST (India); IPM (Iran); SFI (Ireland); INFN (Italy); NRF and WCU (Korea); LAS (Lithuania); CINVESTAV, CONACYT, SEP, and UASLP-FAI (Mexico); PAEC (Pakistan); SCSR (Poland); FCT (Portugal); JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); MST and MAE (Russia); MSTD (Serbia); MICINN and CPAN (Spain); Swiss Funding Agencies (Switzerland); NSC (Taipei); TUBITAK and TAEK (Turkey); STFC (United Kingdom); DOE and NSF (USA)

Search for new physics with a monojet and missing transverse energy in pp collisions at √s=7 TeV

This is the pre-print version of the Published Article which can be accessed at the link below.A study of events with missing transverse energy and an energetic jet is performed using pp collision data at a center-of-mass energy of 7 TeV. The data were collected by the CMS detector at the LHC, and correspond to an integrated luminosity of 36  pb-1. An excess of these events over standard model contributions is a signature of new physics such as large extra dimensions and unparticles. The number of observed events is in good agreement with the prediction of the standard model, and significant extension of the current limits on parameters of new physics benchmark models is achieved

First measurement of the underlying event activity at the LHC with root s=0.9 TeV

A measurement of the underlying activity in scattering processes with p (T) scale in the GeV region is performed in proton-proton collisions at root s = 0.9 TeV, using data collected by the CMS experiment at the LHC. Charged particle production is studied with reference to the direction of a leading object, either a charged particle or a set of charged particles forming a jet. Predictions of several QCD-inspired models as implemented in PYTHIA are compared, after full detector simulation, to the data. The models generally predict too little production of charged particles with pseudorapidity |eta| LT 2, p (T) GT 0.5 GeV/c, and azimuthal direction transverse to that of the leading object

Search for Dijet Resonances in 7 TeV pp Collisions at CMS (vol 105, 211801, 2010)

Publisher’s Note: Search for Dijet Resonances in 7 TeV pp Collisions at CMS [Phys. Rev. Lett. 105, 211801 (2010)