Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia and/or overwhelming infection. Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases. Objective: A locus on chromosome 8 has previously been linked to the disease in three families, but no underlying gene defect has to date been identified. Design: The study design comprised single-nucleotide polymorphism genotyping and mutation detection. Setting: The study was conducted at secondary and tertiary referral centers. Patients: Eighty probands from families referred for investigation of the genetic cause of FGD participated in the study. Interventions: There were no interventions. Results: Analysis by single-nucleotide polymorphism array of the genotype of one individual with FGD previously linked to chromosome 8 revealed a large region of homozygosity encompassing the steroidogenic acute regulatory protein gene, STAR. We identified homozygous STAR mutations in this patient and his affected siblings. Screening of our total FGD patient cohort revealed homozygous STAR mutations in a further nine individuals from four other families. Conclusions: Mutations in STAR usually cause lipoid congenital adrenal hyperplasia, a disorder characterized by both gonadal and adrenal steroid deficiency. Our results demonstrate that certain mutations in STAR (R192C and the previously reported R188C) can present with a phenotype indistinguishable from that seen in FGD

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy

Rolandic Epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and Atypical RE (ARE). Here we report on whole-exome sequencing of 194 unrelated patients with RE/ARE and 567 ethnically matched population controls. We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. The statistical significance of the enrichment disappeared after removing ARE patients. For several disease-related gene-sets, an odds ratio > 1 was detected for loss-of-function variants

Search for supersymmetry in hadronic final states with missing transverse energy using the variables αT and b-quark multiplicity in pp collisions at √s = 8 TeV

Submitted by Vitor Silverio Rodrigues ([email protected]) on 2014-05-27T11:30:34Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:48:49Z : No. of bitstreams: 1 2-s2.0-84883824987.pdf: 1540579 bytes, checksum: be6bbff5192436d9fcdbc367ffd1650e (MD5) Made available in DSpace on 2014-05-27T11:30:34Z (GMT). No. of bitstreams: 0 Previous issue date: 2013-09-01 An inclusive search for supersymmetric processes that produce final states with jets and missing transverse energy is performed in pp collisions at a centre-of-mass energy of 8 TeV. The data sample corresponds to an integrated luminosity of 11.7 fb-1 collected by the CMS experiment at the LHC. In this search, a dimensionless kinematic variable, αT, is used to discriminate between events with genuine and misreconstructed missing transverse energy. The search is based on an examination of the number of reconstructed jets per event, the scalar sum of transverse energies of these jets, and the number of these jets identified as originating from bottom quarks. No significant excess of events over the standard model expectation is found. Exclusion limits are set in the parameter space of simplified models, with a special emphasis on both compressed-spectrum scenarios and direct or gluino-induced production of third-generation squarks. For the case of gluino-mediated squark production, gluino masses up to 950-1125 GeV are excluded depending on the assumed model. For the direct pair-production of squarks, masses up to 450 GeV are excluded for a single light first- or second-generation squark, increasing to 600 GeV for bottom squarks. © 2013 CERN for the benefit of the CMS collaboration. CERN, Geneva Yerevan Physics Institute, Yerevan Institut für Hochenergiephysik der OeAW, Wien National Centre for Particle and High Energy Physics, Minsk Universiteit Antwerpen, Antwerpen Vrije Universiteit Brussel, Brussel Université Libre de Bruxelles, Bruxelles Ghent University, Ghent Université Catholique de Louvain, Louvain-la-Neuve Université de Mons, Mons Centro Brasileiro de Pesquisas Fisicas, Rio de Janeiro Universidade do Estado do Rio de Janeiro, Rio de Janeiro Universidade Estadual Paulista, São Paulo Universidade Federal do ABC, São Paulo Institute for Nuclear Research and Nuclear Energy, Sofia University of Sofia, Sofia Institute of High Energy Physics, Beijing State Key Laboratory of Nuclear Physics and Technology Peking University, Beijing Universidad de Los Andes, Bogota Technical University of Split, Split University of Split, Split Institute Rudjer Boskovic, Zagreb University of Cyprus, Nicosia Charles University, Prague Academy of Scientific Research and Technology of the Arab Republic of Egypt Egyptian Network of High Energy Physics, Cairo National Institute of Chemical Physics and Biophysics, Tallinn Department of Physics University of Helsinki, Helsinki Helsinki Institute of Physics, Helsinki Lappeenranta University of Technology, Lappeenranta DSM/IRFU CEA/Saclay, Gif-sur-Yvette Laboratoire Leprince-Ringuet, Ecole Polytechnique IN2P3-CNRS, Palaiseau Institut Pluridisciplinaire Hubert Curien, Universite de Strasbourg, Universite de Haute Alsace Mulh CNRS/IN2P3, Strasbourg CNRS-IN2P3, Institut de Physique Nucléaire de Lyon Université de Lyon, Université Claude Bernard Lyon 1, Villeurbanne Institute of High Energy Physics and Informatization Tbilisi State University, Tbilisi I. Physikalisches Institut RWTH Aachen University, Aachen III. Physikalisches Institut A RWTH Aachen University, Aachen III. Physikalisches Institut B RWTH Aachen University, Aachen Deutsches Elektronen-Synchrotron, Hamburg University of Hamburg, Hamburg Institut für Experimentelle Kernphysik, Karlsruhe Institute of Nuclear and Particle Physics (INPP) NCSR Demokritos, Aghia Paraskevi University of Athens, Athens University of Ioánnina, Ioánnina KFKI Research Institute for Particle and Nuclear Physics, Budapest Institute of Nuclear Research ATOMKI, Debrecen University of Debrecen, Debrecen Panjab University, Chandigarh University of Delhi, Delhi Saha Institute of Nuclear Physics, Kolkata Bhabha Atomic Research Centre, Mumbai Tata Institute of Fundamental Research - EHEP, Mumbai Tata Institute of Fundamental Research - HECR, Mumbai Institute for Research in Fundamental Sciences (IPM), Tehran INFN Sezione di Bari, Bari Università di Bari, Bari Politecnico di Bari, Bari INFN Sezione di Bologna, Bologna Università di Bologna, Bologna INFN Sezione di Catania, Catania Università di Catania, Catania INFN Sezione di Firenze, Firenze Università di Firenze, Firenze INFN Laboratori Nazionali di Frascati, Frascati INFN Sezione di Genova, Genova Università di Genova, Genova INFN Sezione di Milano-Bicocca, Milano Università di Milano-Bicocca, Milano INFN Sezione di Napoli, Napoli Università di Napoli 'Federico II', Napoli Università della Basilicata (Potenza), Napoli Università G. Marconi (Roma), Napoli INFN Sezione di Padova, Padova Università di Padova, Padova Università di Trento (Trento), Padova INFN Sezione di Pavia, Pavia Università di Pavia, Pavia INFN Sezione di Perugia, Perugia Università di Perugia, Perugia INFN Sezione di Pisa, Pisa Università di Pisa, Pisa Scuola Normale Superiore di Pisa, Pisa INFN Sezione di Roma, Roma Università di Roma, Roma INFN Sezione di Torino, Torino Università di Torino, Torino Università del Piemonte Orientale (Novara), Torino INFN Sezione di Trieste, Trieste Università di Trieste, Trieste Kangwon National University, Chunchon Kyungpook National University, Daegu Institute for Universe and Elementary Particles Chonnam National University, Kwangju Korea University, Seoul University of Seoul, Seoul Sungkyunkwan University, Suwon Vilnius University, Vilnius Centro de Investigacion y de Estudios Avanzados del IPN, Mexico City Universidad Iberoamericana, Mexico City Benemerita Universidad Autonoma de Puebla, Puebla Universidad Autónoma de San Luis Potosí, San Luis Potosí University of Auckland, Auckland University of Canterbury, Christchurch National Centre for Physics Quaid-I-Azam University, Islamabad National Centre for Nuclear Research, Swierk Institute of Experimental Physics, Faculty of Physics University of Warsaw, Warsaw Laboratório de Instrumentação e Física Experimental de Partículas, Lisboa Joint Institute for Nuclear Research, Dubna Petersburg Nuclear Physics Institute, Gatchina (St. Petersburg) Institute for Nuclear Research, Moscow Institute for Theoretical and Experimental Physics, Moscow P.N. Lebedev Physical Institute, Moscow Skobeltsyn Institute of Nuclear Physics Lomonosov Moscow State University, Moscow State Research Center of Russian Federation Institute for High Energy Physics, Protvino Faculty of Physics and Vinca Institute of Nuclear Sciences University of Belgrade, Belgrade Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid Universidad Autónoma de Madrid, Madrid Universidad de Oviedo, Oviedo Instituto de Física de Cantabria (IFCA) CSIC-Universidad de Cantabria, Santander European Organization for Nuclear Research CERN, Geneva Paul Scherrer Institut, Villigen Institute for Particle Physics ETH Zurich, Zurich Universität Zürich, Zurich National Central University, Chung-Li National Taiwan University (NTU), Taipei Chulalongkorn University, Bangkok Cukurova University, Adana Physics Department Middle East Technical University, Ankara Bogazici University, Istanbul Istanbul Technical University, Istanbul National Scientific Center Kharkov Institute of Physics and Technology, Kharkov University of Bristol, Bristol Rutherford Appleton Laboratory, Didcot Imperial College, London Brunel University, Uxbridge Baylor University, Waco The University of Alabama, Tuscaloosa Boston University, Boston Brown University, Providence University of California, Davis, Davis University of California, Los Angeles University of California, Riverside, Riverside University of California, San Diego, La Jolla University of California, Santa Barbara, Santa Barbara California Institute of Technology, Pasadena Carnegie Mellon University, Pittsburgh University of Colorado at Boulder, Boulder Cornell University, Ithaca Fairfield University, Fairfield Fermi National Accelerator Laboratory, Batavia University of Florida, Gainesville Florida International University, Miami Florida State University, Tallahassee Florida Institute of Technology, Melbourne University of Illinois at Chicago (UIC), Chicago The University of Iowa, Iowa City Johns Hopkins University, Baltimore The University of Kansas, Lawrence Kansas State University, Manhattan Lawrence Livermore National Laboratory, Livermore University of Maryland, College Park Massachusetts Institute of Technology, Cambridge University of Minnesota, Minneapolis University of Mississippi, Oxford University of Nebraska-Lincoln, Lincoln State University of New York at Buffalo, Buffalo Northeastern University, Boston Northwestern University, Evanston University of Notre Dame, Notre Dame The Ohio State University, Columbus Princeton University, Princeton University of Puerto Rico, Mayaguez Purdue University, West Lafayette Purdue University Calumet, Hammond Rice University, Houston University of Rochester, Rochester The Rockefeller University, New York Rutgers The State University of New Jersey, Piscataway University of Tennessee, Knoxville Texas A and M University, College Station Texas Tech University, Lubbock Vanderbilt University, Nashville University of Virginia, Charlottesville Wayne State University, Detroit University of Wisconsin, Madison Universidade Estadual Paulista, São Paul

Two-particle Bose-Einstein correlations and their Lévy parameters in PbPb collisions at sNN\sqrt{s_\mathrm{NN}} = 5.02 TeV

Two-particle Bose-Einstein momentum correlation functions are studied for charged-hadron pairs in lead-lead collisions at a center-of-mass energy per nucleon pair of $\sqrt{s_\mathrm{NN}}$ = 5.02 TeV. The data sample, containing 4.27$\times10^{9}$ minimum bias events corresponding to an integrated luminosity of 0.607 nb$^{-1}$, was collected by the CMS experiment in 2018. The experimental results are discussed in terms of a L\'evy-type source distribution. The parameters of this distribution are extracted as functions of particle pair average transverse mass and collision centrality. These parameters include the L\'evy index or shape parameter ($\alpha$), the L\'evy scale parameter ($R$), and the correlation strength parameter ($\lambda$). The source shape, characterized by $\alpha$, is found to be neither Cauchy nor Gaussian, implying the need for a full L\'evy analysis. Similarly to what was previously found for systems characterized by Gaussian source radii, a hydrodynamical scaling is observed for the L\'evy $R$ parameter. The $\lambda$ parameter is studied in terms of the core-halo model.Comment: Submitted to Physical Review C. All figures and tables can be found at http://cms-results.web.cern.ch/cms-results/public-results/publications/HIN-21-011 (CMS Public Pages

Search for high-mass resonances decaying to a jet and a Lorentz-boosted resonance in proton-proton collisions at $\sqrt{s}=13\text{ }\text{ }\mathrm{TeV}

Physics letters / B 832, 137263 (2022). doi:10.1016/j.physletb.2022.137263 Published by North-Holland Publ., Amsterda