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148 results on '"Freitas, Ayres"'

101. 30 years, some 700 integrals, and 1 dessert or: electroweak two-loop corrections to the Z ̄bb vertex

Author

Dubovyk, Ievgen, Freitas, Ayres, Gluza, Janusz, Riemann, Tord, and Usovitsch, Johann

Subjects
loops, electroweak
Abstract

The one-loop corrections to the weak mixing angle sin2 qb eff, derived from the Z¯bb vertex, are known since 1985. It took another 30 years to calculate the complete electroweak two-loop corrections to sin2 qb eff. The main obstacle was the calculation of the O(700) bosonic two-loop vertex integrals with up to three mass scales, at s = M2 Z. We did not perform the usual integral reduction and master evaluation, but chose a completely numerical approach, using two different calculational chains. One method relies on publicly available sector decomposition implementations. Further, we derived Mellin-Barnes (MB) representations, exploring the publicly available MB suite. We had to supplement the MB suite by two new packages: AMBRE 3, a Mathematica program, for the efficient treatment of non-planar integrals and MBnumerics for advanced numerics in the Minkowskian space-time. Our preliminary result for LL2016, the “dessert”, for the electroweak bosonic two-loop contributions to sin2 qb eff is: Dsin2 qb(a2;bos) eff = sin2 qW Dk(a2;bos) b , with Dk(a2;bos) b = 􀀀1:0276 10􀀀4. This contribution is about a quarter of the corresponding fermionic corrections and of about the same magnitude as several of the known higher-order QCD corrections. The sin2 qb eff is now predicited in the Standard Model with a relative error of 10-4 [1].

Published
2016

103. MANAGEMENT OF INNOVATION PROCESS IN SERVICES: MICRO AND SMALL ENTERPRISES OF THE METROPOLITAN REGION OF CAMPINAS

Author

Tarik Veloso Dal Molin, Antonio Henriques de Araujo Junior, and Luiz de Freitas Ayres

Subjects
Economic growth, Regional science, Innovation process, innovation, innovation process management, services, Business, Metropolitan area
Abstract

This study aims to explore the management of the innovation process in a context for small services businesses. Innovation is not a new concept, but its perception as a process, detached from randomness, it is. Understand innovation as a process is what allows its management as a tool to improve results, competitiveness and to the perpetuation of the company. The study is a qualitative research that consists in the content analysis of structured interviews held with companies with services in their portfolio, using innovation-focused National Quality Foundation (FNQ) questions. The following categories were identified during interviews: Innovation Understanding, Innovative Ambience, Innovation Process Management and Learning during Process. Also, objective aspects of innovation, such as planning, goals and KPIs, and subjective aspects, such as creativity, learning environment and a support structure were explored, for the 02 aspects, when integrated and successfully managed with multidisciplinary tools, are the key to take a company to the next level.

Published
2015

109. ELECTROWEAK BOSONIC 2-LOOP CORRECTIONS TO THE Z-POLE PRECISION OBSERVABLES.

Author

DUBOVYK, IEVGEN, FREITAS, AYRES, GLUZA, JANUSZ, RIEMANN, TORD, and USOVITSCH, JOHANN

Subjects
*BOSONS, *PARTICLE accelerators, *RADIATIVE corrections, *PARTICLES (Nuclear physics), *COLLIDERS (Nuclear physics)
Abstract

Precision measurements of properties of the electroweak W- and Z-bosons provide strong constraints on the Standard Model (SM) and extensions thereof. This sensitivity crucially depends on the availability of accurate theoretical predictions for these quantities, including higher-order radiative corrections. This contribution gives a brief overview of available calculations and compares the estimate of theory uncertainties with the projected experimental precision of future e+e− collider proposals. Then it is shown how numerical Mellin–Barnes integrals can be used to evaluate higher-order loop integrals that depend on three or more independent mass and momentum scales. As a concrete physical application, the complete two-loop corrections to Z → bb̅ are considered. [ABSTRACT FROM AUTHOR]

Published
2017
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112. The Matrix Element Method and QCD Radiation

Author

UCL - SC/PHYS - Département de physique, Freitas, Ayres, Mattelaer, Olivier, UCL - SC/PHYS - Département de physique, Freitas, Ayres, and Mattelaer, Olivier

Abstract

The matrix element method (MEM) has been extensively used for the analysis of top-quark and W-boson physics at the Tevatron, but in general without dedicated treatment of initial state QCD radiation. At the LHC, the increased center of mass energy leads to a significant increase in the amount of QCD radiation, which makes it mandatory to carefully account for its effects. We here present several methods for inclusion of QCD radiation effects in the MEM, and apply them to mass determination in the presence of multiple invisible particles in the final state. We demonstrate significantly improved results compared to the standard treatment.

Published
2011

117. Cytogenomic characterization of an unexpected 17.6Mb 9p deletion associated to a 14.8Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype

Author

Meloni, Vera de Freitas Ayres, primary, Piazzon, Flavia Balbo, additional, Soares, Maria de Fátima de Faria, additional, Takeno, Sylvia Satomi, additional, Christofolini, Denise Maria, additional, Kulikowski, Leslie Domenici, additional, Brunoni, Decio, additional, and Melaragno, Maria Isabel, additional

Published
2012
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134. Electroweak two-loop corrections to sin2$ \theta_{\text{eff}}^{{b\overline b }} $ and Rb using numerical Mellin-Barnes integrals.

Author

Freitas, Ayres and Huang, Yi-Cheng

Abstract

Multi-loop integrals can be evaluated numerically using Mellin-Barnes representations. Here this technique is applied to the calculation of electroweak two-loop correction with closed fermion loops for two observables: the effective weak mixing angle for bottom quarks, sin 2$ \theta_{\text{eff}}^{{b\overline b }} $ , and the branching ratio of the Z boson into bottom quarks, Rb. Good agreement with a previous result for sin 2$ \theta_{\text{eff}}^{{b\overline b }} $ is found. The result for Rb is new and it turns out that the electroweak two-loop corrections are relatively large — of the same order as the current experimental uncertainty. A simple parametrization formula is provided which approximates the full result within integration errors. [ABSTRACT FROM AUTHOR]

Published
2012
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136. Parity-Violating Møller Scattering at Next-to-Next-to-Leading Order: Closed Fermion Loops.

Author

Yong Du, Freitas, Ayres, Patel, Hiren H., and Ramsey-Musolf, Michael J.

Subjects
*FERMIONS
Abstract

A complete, gauge-invariant computation of two-loop virtual corrections involving closed fermion loops to the polarized Møller scattering asymmetry is presented. The set of contributions involving two closed fermion loops and the set involving one closed fermion loop are numerically similar in magnitude to the one-loop bosonic corrections and yield an overall correction of 1.3% relative to the tree level asymmetry. We estimate sizes of the remaining two-loop contributions and discuss implications for the upcoming MOLLER (Measurement of a Lepton-Lepton Electroweak Reaction) experiment. [ABSTRACT FROM AUTHOR]

Published
2021
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138. Report of the Topical Group on Electroweak Precision Physics and Constraining New Physics for Snowmass 2021

Author

Belloni, Alberto, Freitas, Ayres, Tian, Junping, Alcaraz Maestre, Juan, Apyan, Aram, Azartash-Namin, Bianca, Azzurri, Paolo, Banerjee, Swagato, Beyer, Jakob, Bhattacharya, Saptaparna, Blas, Jorge, Blondel, Alain, Britzger, Daniel, Dam, Mogens, Du, Yong, D Enterria, David, Fujii, Keisuke, Grojean, Christophe, Gu, Jiayin, Han, Tao, Hildreth, Michael, Irles, Adrián, Janot, Patrick, Jeans, Daniel, Kawale, Mayuri, Khoda, Elham E., Lane, Samuel, Lewis, Ian, Liang, Zhijun, List, Jenny, Liu, Zhen, Ma, Yang, Víctor Miralles, Mizuno, Takahiro, Mwewa, Chilufya, Narain, Meenakshi, Nedic, Luka, Neubauer, Mark S., Paranjape, Chaitanya, Peskin, Michael, Petti, Roberto, Pleier, Marc-André, Poeschl, Roman, Potamianos, Karolos, Reina, Laura, Reuter, Jürgen, Robens, Tania, Roloff, Philipp, Roney, Michael, Ruan, Manqi, Ruiz, Richard, Schuy, Alex, Shepherd, William, Stolarski, Daniel, Stupak, John, Suehara, Taikan, Tenchini, Roberto, Tricoli, Alessandro, Vryonidou, Eleni, Vos, Marcel, Waits, Connor, Wilson, Graham, Wu, Yongcheng, Xie, Keping, Yang, Siqi, Yang, Tianyi, Yumino, Keita, Zhou, Shuang-Yong, and Zhu, Junjie

Subjects
High Energy Physics - Experiment (hep-ex), High Energy Physics - Phenomenology, High Energy Physics - Phenomenology (hep-ph), hep-ex, FOS: Physical sciences, hep-ph, Particle Physics - Experiment, High Energy Physics - Experiment, Particle Physics - Phenomenology
Abstract

The precise measurement of physics observables and the test of their consistency within the standard model (SM) are an invaluable approach, complemented by direct searches for new particles, to determine the existence of physics beyond the standard model (BSM). Studies of massive electroweak gauge bosons (W and Z bosons) are a promising target for indirect BSM searches, since the interactions of photons and gluons are strongly constrained by the unbroken gauge symmetries. They can be divided into two categories: (a) Fermion scattering processes mediated by s- or t-channel W/Z bosons, also known as electroweak precision measurements; and (b) multi-boson processes, which include production of two or more vector bosons in fermion-antifermion annihilation, as well as vector boson scattering (VBS) processes. The latter categories can test modifications of gauge-boson self-interactions, and the sensitivity is typically improved with increased collision energy. This report evaluates the achievable precision of a range of future experiments, which depend on the statistics of the collected data sample, the experimental and theoretical systematic uncertainties, and their correlations. In addition it presents a combined interpretation of these results, together with similar studies in the Higgs and top sector, in the Standard Model effective field theory (SMEFT) framework. This framework provides a model-independent prescription to put generic constraints on new physics and to study and combine large sets of experimental observables, assuming that the new physics scales are significantly higher than the EW scale., 55 pages; Report of the EF04 topical group for Snowmass 2021; v2: few typos corrected and references added

140. The Future of US Particle Physics - The Snowmass 2021 Energy Frontier Report

Author

Narain, Meenakshi, Reina, Laura, Tricoli, Alessandro, Begel, Michael, Belloni, Alberto, Bose, Tulika, Boveia, Antonio, Dawson, Sally, Doglioni, Caterina, Freitas, Ayres, Hirschauer, James, Hoeche, Stefan, Lee, Yen-Jie Yen-Jie, Lin, Huey-Wen, Lipeles, Elliot, Zhen Liu, Meade, Patrick, Mukherjee, Swagato, Nadolsky, Pavel, Ojalvo, Isobel, Griso, Simone Pagan, Royon, Christophe, Schmitt, Michael, Schwienhorst, Reinhard, Shah, Nausheen, Tian, Junping, Vernieri, Caterina, Wackeroth, Doreen, Wang, Lian-Tao, Denisov, Dmitri, Gleyzer, Sergey, Onyisi, Peter, Franco Sevilla, Manuel, Titov, Maksym, Whiteson, Daniel, HEP, INSPIRE, Institut de Recherches sur les lois Fondamentales de l'Univers (IRFU), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay

Subjects
High Energy Physics - Theory, [PHYS.HEXP] Physics [physics]/High Energy Physics - Experiment [hep-ex], [PHYS.HLAT]Physics [physics]/High Energy Physics - Lattice [hep-lat], [PHYS.HTHE]Physics [physics]/High Energy Physics - Theory [hep-th], [PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], High Energy Physics - Lattice (hep-lat), FOS: Physical sciences, [PHYS.HLAT] Physics [physics]/High Energy Physics - Lattice [hep-lat], [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex], High Energy Physics - Experiment, [PHYS.HPHE] Physics [physics]/High Energy Physics - Phenomenology [hep-ph], High Energy Physics - Phenomenology, High Energy Physics - Experiment (hep-ex), High Energy Physics - Lattice, High Energy Physics - Phenomenology (hep-ph), High Energy Physics - Theory (hep-th), [PHYS.HPHE]Physics [physics]/High Energy Physics - Phenomenology [hep-ph], [PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex], [PHYS.HTHE] Physics [physics]/High Energy Physics - Theory [hep-th], Nuclear Experiment (nucl-ex), Nuclear Experiment, activity report
Abstract

This report, as part of the 2021 Snowmass Process, summarizes the current status of collider physics at the Energy Frontier, the broad and exciting future prospects identified for the Energy Frontier, the challenges and needs of future experiments, and indicates high priority research areas., Comment: 128 pages, 41 figures, 17 tables, contribution to Snowmass 2021

141. The International Linear Collider: Report to Snowmass 2021

Author

Aryshev, Alexander, Behnke, Ties, Berggren, Mikael, Brau, James, Craig, Nathaniel, Freitas, Ayres, Gaede, Frank, Gessner, Spencer, Gori, Stefania, Grojean, Christophe, Heinemeyer, Sven, Jeans, Daniel, Kruger, Katja, List, Benno, List, Jenny, Liu, Zhen, Michizono, Shinichiro, Miller, David W., Moult, Ian, Murayama, Hitoshi, Nakada, Tatsuya, Nanni, Emilio, Nojiri, Mihoko, Padamsee, Hasan, Perelstein, Maxim, Peskin, Michael E., Poeschl, Roman, Posen, Sam, Robson, Aidan, Strube, Jan, Suehara, Taikan, Tian, Junping, Titov, Maxim, Vos, Marcel, White, Andrew, Wilson, Graham, Yokoya, Kaoru, Zarnecki, Aleksander Filip, Adachi, Ichiro, Agashe, Kaustubh, Jovin, Tatjana Agatonovic, Aihara, Hiroaki, Altmannshofer, Wolfgang, Alves, Daniele, Anguiano, Justin, Aoki, Ken-Ichi, Aoki, Masato, Aoki, Toshihiro, Aoki, Yumi, Arai, Yasuo, Araki, Hayato, Asada, Haruka, Asai, Kento, Asai, Shoji, Attie, David, Baer, Howard, Bagger, Jonathan, Bai, Yang, Bailey, Ian, Barrue, Ricardo, Bartoldus, Rainer, Barzi, Emanuela, Basso, Matthew, Bauerdick, Lothar, Baum, Sebastian, Bellerive, Alain, Belomestnykh, Sergey, Antequera, Jorge Berenguer, Beyer, Jakob, Bhat, Pushpalatha, Bilki, Burak, Black, Kevin, Bloom, Kenneth, Bodwin, Geoffrey, Boisvert, Veronique, Boran, Fatma, Boudry, Vincent, Boughezal, Radja, Boveia, Antonio, Bozovic-Jelisavcic, Ivanka, Brient, Jean-Claude, Brodsky, Stanley, Brunetti, Laurent, Buesser, Karsten, Bulyak, Eugene, Burrows, Philip N., Burt, Graeme C., Cai, Yunhai, Cairo, Valentina, Canepa, Anadi, Celiberto, Francesco Giovanni, Cenni, Enrico, Chacko, Zackaria, Chaikovska, Iryna, Checchin, Mattia, Chen, Lisong, Chen, Thomas Y., Cheng, Hsin Chia, Cho, Gi-Chol, Choudhary, Brajesh, Clarke, Jim, Cline, James, Co, Raymond, Cohen, Timothy, Colas, Paul, Damerell, Chris, Das, Arindam, Dasu, Sridhara, Dawson, Sally, de Blas, Jorge, de Lima, Carlos Henrique, Deandrea, Aldo, Dehmelt, Klaus, Delayen, Jean, Demarteau, Marcel, Denisov, Dmitri, Dermisek, Radovan, Dieguez, Angel, Dohmae, Takeshi, Dopke, Jens, Dort, Katharina, Du, Yong, Dudar, Bohdan, Dutta, Bhaskar, Dutta, Juhi, Einhaus, Ulrich, Elsen, Eckhard, Endo, Motoi, Eremeev, Grigory, Eren, Engin, Erler, Jens, Esarey, Eric, Everett, Lisa, Golfe, Angeles Faus, Garcia, Marcos Fernandez, Foster, Brian, Fourches, Nicolas, Fouz, Mary-Cruz, Fujii, Keisuke, Fujimoto, Junpei, Torregrosa, Esteban Fullan, Furukawa, Kazuro, Fusayasu, Takahiro, Fuster, Juan, Ganjour, Serguei, Gao, Yuanning, Gaur, Naveen, Geng, Rongli, Georgi, Howard, Gherghetta, Tony, Goldstein, Joel, Goncalves, Dorival, Gonski, Julia, Gonzalo, Tomas, Goto, Takeyoshi, Goto, Toru, Graf, Norman, Grames, Joseph, Grannis, Paul, Gray, Lindsey, Grohsjean, Alexander, Gu, Jiayin, Guler, Yalcin, Gutierrez, Phillip, Haba, Junji, Haber, Howard, Hallford, John, Hamaguchi, Koichi, Han, Tao, Hara, Kazuhiko, Harada, Daisuke, Hashimoto, Koji, Hashino, Katsuya, Hayashi, Masahito, Heinrich, Gudrun, Hidaka, Keisho, Higuchi, Takeo, Hinode, Fujio, Hioki, Zenro, Hirose, Minoru, Hiroshima, Nagisa, Hisano, Junji, Hollik, Wolfgang, Homiller, Samuel, Hong, Sungwoo, Hook, Anson, Horii, Yasuyuki, Hoshina, Hiroki, Hristova, Ivana, Huitu, Katri, Hyakutake, Yoshifumi, Iijima, Toru, Ikematsu, Katsumasa, Ilderton, Anton, Inami, Kenji, Irles, Adrian, Ishikawa, Akimasa, Ishiwata, Koji, Ito, Hayato, Ivanov, Igor, Iwamoto, Sho, Iwamoto, Toshiyuki, Iwasaki, Masako, Iwashita, Yoshihisa, Jia, Haoyi, Morales, Fabricio Jimenez, Joshi, Prakash, Jung, Sunghoon, Kacarevic, Goran, Kagan, Michael, Kakizaki, Mitsuru, Kalinowski, Jan, Kaminski, Jochen, Kanaya, Kazuyuki, Kanemura, Shinya, Kanno, Hayato, Kano, Yuya, Kashiwagi, Shigeru, Kato, Yukihiro, Kawada, Nanami, Kawada, Shin-ichi, Kawagoe, Kiyotomo, Khoze, Valery, Kichimi, Hiromichi, Kim, Doojin, Kitahara, Teppei, Kitano, Ryuichiro, Klamka, Jan, Komamiya, Sachio, Kong, K. C., Konomi, Taro, Kotera, Katsushige, Kou, Emi, Kravchenko, Ilya, Kubo, Kiyoshi, Kubo, Takayuki, Kumaoka, Takuya, Kumar, Ashish, Kumar, Nilanjana, Kunath, Jonas, Kundu, Saumyen, Kunitomo, Hiroshi, Kurata, Masakazu, Kuriki, Masao, Kusenko, Alexander, Lagouri, Theodota, Lankford, Andrew J., Lastovicka-Medin, Gordana, Diberder, Francois Le, Lee, Claire, Liepe, Matthias, Linacre, Jacob, Liptak, Zachary, Lomte, Shivani, Low, Ian, Ma, Yang, Maalouf, Hani, MacFarlane, David, Madison, Brendon, Madlener, Thomas, Maeda, Tomohito, Malek, Paul, Mandal, Sanjoy, Markiewicz, Thomas, Marshall, John, Martens, Aurelien, Martin, Victoria, Martinello, Martina, Rivero, Celso Martinez, Maru, Nobuhito, Matheson, John, Matsumoto, Shigeki, Matsunaga, Hiroyuki, Matsuo, Yutaka, Mawatari, Kentarou, Mbagwu, Johnpaul, McIntosh, Peter, McKeown, Peter, Meade, Patrick, Mekala, Krzysztof, Merkel, Petra, Mihara, Satoshi, Miralles, Víctor, Lopez, Marcos Miralles, Mishima, Go, Mishima, Satoshi, Mistlberger, Bernhard, Mitov, Alexander, Miyabayashi, Kenkichi, Miyamoto, Akiya, Mohanty, Gagan, Monaco, Laura, Mondragon, Myriam, Montgomery, Hugh E., Moortgat-Pick, Gudrid, Morange, Nicolas, Llacer, María Moreno, Moretti, Stefano, Mori, Toshinori, Morii, Toshiyuki, Moroi, Takeo, Morrissey, David, Nachman, Benjamin, Nagano, Kunihiro, Nakajima, Jurina, Nakamura, Eiji, Narita, Shinya, Nath, Pran, Nelson, Timothy, Newbold, David, Niki, Atsuya, Nishimura, Yasuhiro, Nishiyama, Eisaku, Nomura, Yasunori, Nowak, Kacper, Nozaki, Mitsuaki, de Vera, María Teresa Nunez Pardo, Ochoa, Ines, Ogata, Masahito, Ohashi, Satoru, Ohta, Hikaru, Ohta, Shigemi, Ohuchi, Norihito, Oide, Hideyuki, Okada, Nobuchika, Okada, Yasuhiro, Okawa, Shohei, Okayasu, Yuichi, Okugawa, Yuichi, Okugi, Toshiyuki, Okui, Takemichi, Okuyama, Yoshitaka, Omet, Mathieu, Omori, Tsunehiko, Ono, Hiroaki, Onoe, Tomoki, Ootani, Wataru, Otono, Hidetoshi, Ozawa, Shuhei, Griso, Simone Pagan, Papa, Alessandro, Paparella, Rocco, Park, Eun-Kyung, Perez, Gilad, Perez-Lorenzana, Abdel, Peters, Yvonne, Petriello, Frank, Piedra, Jonatan, Porod, Werner, Potter, Christopher, Price, Alan, Radkhorrami, Yasser, Reina, Laura, Reuter, Juergen, Richard, Francois, Riemann, Sabine, Rimmer, Robert, Rizzo, Thomas, Robens, Tania, Ruber, Roger, Jimeno, Alberto Ruiz, Saeki, Takayuki, Saha, Ipsita, Saito, Tomoyuki, Sakaguchi, Makoto, Sakai, Tadakatsu, Sakaki, Yasuhito, Sakurai, Kodai, Salvatico, Riccardo, Salvatore, Fabrizio, San, Yik Chuen, Sandick, Pearl, Sanuki, Tomoyuki, Sasikumar, Kollassery Swathi, Schaefer, Oliver, Schaefer, Ruth, Schneekloth, Uwe, Schoerner-Sadenius, Thomas, Schroeder, Carl, Schuster, Philip, Schwartzman, Ariel, Schwienhorst, Reinhard, Sefkow, Felix, Seiya, Yoshihiro, Sekiguchi, Motoo, Sekizawa, Kazuyuki, Senyo, Katsumi, Sert, Hale, Sertore, Danielev, Settles, Ronald, Shafi, Qaisar, Shahdara, Tetsuo, Haghi, Barmak Shams Es, Sharma, Ashish, Shelton, Jessie, Shepherd-Themistocleous, Claire, Shibuya, Hiroto, Shidara, Tetsuo, Shimomura, Takashi, Shindou, Tetsuo, Shoji, Yutaro, Shu, Jing, Sievers, Ian, Simon, Frank, Singh, Rajeev, Soreq, Yotam, Stanitzki, Marcel, Stapnes, Steinar, Steinhebel, Amanda, Stupak, John, Su, Shufang, Suekane, Fumihiko, Sugamoto, Akio, Sugawara, Yuji, Sugimoto, Satoru, Sugimoto, Yasuhiro, Sugiyama, Hiroaki, Sumino, Yukinari, Sundrum, Raman, Suzuki, Atsuto, Suzuki, Shin, Swiatlowski, Maximilian, Tait, Tim M. P., Takahashi, Shota, Takahashi, Tohru, Takeshita, Tohru, Takeuchi, Michihisa, Takubo, Yosuke, Tanabe, Tomohiko, Tanedo, Philip, Tanimoto, Morimitsu, Tao, Shuichiro, Tata, Xerxes, Tauchi, Toshiaki, Taylor, Geoffrey, Terada, Takahiro, Terunuma, Nobuhiro, Thaler, Jesse, Thea, Alessandro, Tillinger, Finn, Timmermans, Jan, Tobioka, Kohsaku, Toda, Kouichi, Tokiyasu, Atsushi, Toma, Takashi, Torndal, Julie, Tosun, Mehmet, Tsai, Yu-Dai, Tseng, Shih-Yen, Tsumura, Koji, Tuckler, Douglas, Uchida, Yoshiki, Uchiyama, Yusuke, Ueda, Daiki, Ukegawa, Fumihiko, Umemori, Kensei, Urakawa, Junji, Vallee, Claude, Vega, Roberto, Velasco, Liliana, Verdu-Andres, Silvia, Vernieri, Caterina, Vila, Anna, Alvarez, Ivan Vila, Vossebeld, Joost, Vsrms, Raghava, Vukasinovic, Natasa, Wackeroth, Doreen, Wakida, Moe, Wang, Liantao, Washio, Masakazu, Watanabe, Takashi, Watson, Nigel, Watts, Gordon, Weiglein, Georg, Wells, James D., Wenskat, Marc, Westhoff, Susanne, White, Glen, Williams, Ciaran, Willocq, Stephane, Wing, Matthew, Winter, Alasdair, Winter, Marc, Wu, Yongcheng, Xie, Keping, Xu, Tao, Yakovlev, Vyacheslav, Yamada, Shuei, Yamamoto, Akira, Yamamoto, Hitoshi, Yamamoto, Kei, Yamamoto, Yasuchika, Yamanaka, Masato, Yamashita, Satoru, Yamatani, Masahiro, Yamatsu, Naoki, Yasui, Shigehiro, Yoda, Takuya, Yonamine, Ryo, Yoshihara, Keisuke, Yoshioka, Masakazu, Yoshioka, Tamaki, Yuasa, Fukuko, Yumino, Keita, Zerwas, Dirk, Zheng, Ya-Juan, Zhou, Jia, Zhu, Hua Xing, Zobov, Mikhail, Zomer, Fabian, HEP, INSPIRE, Laboratoire de Physique des 2 Infinis Irène Joliot-Curie (IJCLab), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), École polytechnique (X), Institut de Physique des 2 Infinis de Lyon (IP2I Lyon), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Institut de Physique Nucléaire d'Orsay (IPNO), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Centre de Physique des Particules de Marseille (CPPM), Aix Marseille Université (AMU)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), and ILC International Development Team

Subjects
Accelerator Physics (physics.acc-ph), [PHYS.HEXP] Physics [physics]/High Energy Physics - Experiment [hep-ex], hep-ex, [PHYS.PHYS.PHYS-ACC-PH]Physics [physics]/Physics [physics]/Accelerator Physics [physics.acc-ph], FOS: Physical sciences, [PHYS.PHYS.PHYS-ACC-PH] Physics [physics]/Physics [physics]/Accelerator Physics [physics.acc-ph], hep-ph, ILC Coll, Accelerators and Storage Rings, High Energy Physics - Experiment, [PHYS.HPHE] Physics [physics]/High Energy Physics - Phenomenology [hep-ph], High Energy Physics - Phenomenology, High Energy Physics - Experiment (hep-ex), High Energy Physics - Phenomenology (hep-ph), [PHYS.HPHE]Physics [physics]/High Energy Physics - Phenomenology [hep-ph], accelerator, technology, [PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex], Physics - Accelerator Physics, accelerator: technology, activity report, accelerator: design, Particle Physics - Experiment, Particle Physics - Phenomenology, physics.acc-ph
Abstract

The International Linear Collider (ILC) is on the table now as a new global energy-frontier accelerator laboratory taking data in the 2030s. The ILC addresses key questions for our current understanding of particle physics. It is based on a proven accelerator technology. Its experiments will challenge the Standard Model of particle physics and will provide a new window to look beyond it. This document brings the story of the ILC up to date, emphasizing its strong physics motivation, its readiness for construction, and the opportunity it presents to the US and the global particle physics community., Comment: 356 pages, Large pdf file (40 MB) submitted to Snowmass 2021; v2 references to Snowmass contributions added, additional authors; v3 references added, some updates, additional authors

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142. Constraining the intrinsic structure of top-quarks

Author

Englert, Christoph, Freitas, Ayres, Spira, Michael, and Zerwas, Peter M.

Subjects
High Energy Physics::Phenomenology, 7. Clean energy
Abstract

The basic structure of top-quarks as spin-1/2 particles is characterized by the radius Rt and the intrinsic magnetic dipole moment κt, both individually associated with gauge interactions. They are predicted to be zero in pointlike theories as the Standard Model. We derive upper limits of these parameters in the color sector from cross sections measured at Tevatron and LHC in top pair production pp-/pp→tt-, and we predict improved limits expected from LHC in the future, especially for analyses exploiting boosted top final states. An additional method for measuring the intrinsic parameters is based on tt-+jet final states., Physics Letters B, 721 (4-5), ISSN:0370-2693, ISSN:0031-9163, ISSN:1873-2445

144. Simplified models for LHC new physics searches

Author

Alves, Daniele, Arkani-Hamed, Nima, Arora, Sanjay, Bai, Yang, Baumgart, Matthew, Berger, Joshua, Buckley, Matthew, Butler, Bart, Chang, Spencer, Cheng, Hsin-Chia, Cheung, Clifford, Chivukula, R Sekhar, Cho, Won Sang, Cotta, Randy, D’Alfonso, Mariarosaria, Hedri, Sonia El, Essig, Rouven, Evans, Jared A, Fitzpatrick, Liam, Fox, Patrick, Franceschini, Roberto, Freitas, Ayres, Gainer, James S, Gershtein, Yuri, Gray, Richard, Gregoire, Thomas, Gripaios, Ben, Gunion, Jack, Han, Tao, Haas, Andy, Hansson, Per, Hewett, JoAnne, Hits, Dmitry, Hubisz, Jay, Izaguirre, Eder, Kaplan, Jared, Katz, Emanuel, Kilic, Can, Kim, Hyung-Do, Kitano, Ryuichiro, Koay, Sue Ann, Ko, Pyungwon, Krohn, David, Kuflik, Eric, Lewis, Ian, Lisanti, Mariangela, Liu, Tao, Liu, Zhen, Lu, Ran, Luty, Markus, Meade, Patrick, Morrissey, David, Mrenna, Stephen, Nojiri, Mihoko, Okui, Takemichi, Padhi, Sanjay, Papucci, Michele, Park, Michael, Park, Myeonghun, Perelstein, Maxim, Peskin, Michael, Phalen, Daniel, Rehermann, Keith, Rentala, Vikram, Roy, Tuhin, Ruderman, Joshua T, Sanz, Veronica, Schmaltz, Martin, Schnetzer, Stephen, Schuster, Philip, Schwaller, Pedro, Schwartz, Matthew D, Schwartzman, Ariel, Shao, Jing, Shelton, Jessie, Shih, David, Shu, Jing, Silverstein, Daniel, Simmons, Elizabeth, Somalwar, Sunil, Spannowsky, Michael, Spethmann, Christian, Strassler, Matthew, Su, Shufang, Tait, Tim, Thomas, Brooks, Thomas, Scott, Toro, Natalia, Volansky, Tomer, Wacker, Jay, Waltenberger, Wolfgang, Yavin, Itay, Yu, Felix, Zhao, Yue, Zurek, Kathryn, and Group, LHC New Physics Working

Subjects
Particle and Plasma Physics, hep-ex, Molecular, hep-ph, Nuclear, Atomic, Nuclear & Particles Physics
Abstract

This document proposes a collection of simplified models relevant to the design of new-physics searches at the Large Hadron Collider (LHC) and the characterization of their results. Both ATLAS and CMS have already presented some results in terms of simplified models, and we encourage them to continue and expand this effort, which supplements both signature-based results and benchmark model interpretations. A simplified model is defined by an effective Lagrangian describing the interactions of a small number of new particles. Simplified models can equally well be described by a small number of masses and cross-sections. These parameters are directly related to collider physics observables, making simplified models a particularly effective framework for evaluating searches and a useful starting point for characterizing positive signals of new physics. This document serves as an official summary of the results from the Topologies for Early LHC Searches workshop, held at SLAC in September of 2010, the purpose of which was to develop a set of representative models that can be used to cover all relevant phase space in experimental searches. Particular emphasis is placed on searches relevant for the first 50-500 pb 1 of data and those motivated by supersymmetric models. This note largely summarizes material posted at http://lhcnewphysics.org/, which includes simplified model definitions, Monte Carlo material, and supporting contacts within the theory community. We also comment on future developments that may be useful as more data is gathered and analyzed by the experiments. © 2012 IOP Publishing Ltd.

145. CEPC Conceptual Design Report: Volume 2 - Physics & Detector

Author

Guimarães Da Costa, João Barreiro, Gao, Yuanning, Jin, Shan, Qian, Jianming, Tully, Christopher G., Young, Charles, Wang, Lian-Tao, Ruan, Manqi, Zhu, Hongbo, Dong, Mingyi, Ouyang, Qun, Wu, Zhigang, Deng, Zhi, Li, Yulan, Qi, Huirong, Wang, Meng, Fu, Chengdong, Yao, Wei-Ming, Grancagnolo, Franco, Liu, Jianbei, Hu, Tao, Yang, Haijun, Bedeschi, Franco, Ferrari, Roberto, Zhao, Wei, Zhu, Zian, Giacomelli, Paolo, Li, Liang, Li, Fei, Liu, Zhenan, Zhu, Kejun, Hou, Suen, Bozovic Jelisavcic, Ivanka, Li, Gang, Fang, Yaquan, Li, Qiang, Boonekamp, Maarten, Liang, Zhijun, Piccinini, Fulvio, Shi, Xin, Abbrescia, Marcello, Ahmad, Muhammad, Ai, Xiaocong, Albergo, Sebastiano, Aleem, Muhammad Abid, Alexeev, Maxim, Aliev, Malik, Altmannshofer, Wolfgang, Alves, Fábio, An, Fenfen, An, Guangpeng, An, Haipeng, An, Qi, An, Rui, Andreazza, Attilio, Anduze, Marc, Antonello, Massimiliano, Garcia Pascual, Juan Antonio, Antusch, Stefan, Arhrib, Abdesslam, Arkani-Hamed, Nima, Arndt, Kirk, Azzi, Patrizia, Azzurri, Paolo, Palmer, Robert B., Bai, Bowen, Bai, Sha, Bai, Yang, Bai, Yu, Balagura, Vladislav, Balossino, Ilaria, Ban, Yong, Barger, Vernon, Barklow, Timothy, Bartalini, Paolo, Becattini, Francesco, Bellagamba, Lorenzo, Belloni, Alberto, Bencivenni, Giovanni, Berg, J. Scott, Bernius, Catrin, Bertani, Monica, Bertella, Claudia, Bertucci, Michele, Bi, Xiaojun, Bi, Yuanjie, Bian, Ligong, Bian, Tianjian, Bianchi, Fabrizio, Bigi, Ikaros I., Biglietti, Michela, Bignami, Andrea, Bilei, Gianmario, Borgonovi, Lisa, Bortoletto, Daniela, Bortone, Alberto, Boscherini, Davide, Bosotti, Angelo, Boudry, Vincent, Braibant, Sylvie, Bramante, Joseph, Branchini, Paolo, Brient, Jean-Claude, Caccia, Massimo, Cai, Chengfeng, Cai, Hao, Cai, Wenyong, Cai, Xiao, Cai, Yiming, Cai, Yuchen, Cai, Yunhai, Cai, Zhiqiang, Cano Bret, Marc, Cao, Bo, Cao, Dewen, Cao, Jianshe, Cao, Junjie, Cao, Qing-Hong, Carloni Calame, Carlo Michel, Casanova, Raimon, Cavasinni, Vincenzo, Chai, Junying, Chai, Weiping, Chang, Ningbo, Chang, Qin, Chang, Spencer, Chang, We-Fu, Chang, Xuejun, Chang, Yuan-Hann, Chekanov, Sergei, Chen, Bin, Chen, Chunhui, Chen, Fusan, Chen, Gang, Chen, Guoming, Chen, Huan, Chen, Huirun, Chen, Lei, Chen, Liejian, Chen, Mingjun, Chen, Mingshui, Chen, Nian, Chen, Ning, Chen, Shanhong, Chen, Shanzhen, Chen, Shao-Long, Chen, Shaomin, Chen, Shenjian, Chen, Shi, Chen, Wei, Chen, Wen, Chen, Xin, Chen, Xun, Chen, Xurong, Chen, Ye, Chen, Yu, Chen, Yuan, Chen, Yuanbai, Chen, Yukai, Chen, Zhenxing, Cheng, Hao, Cheng, Hsin-Chia, Cheng, Huajie, Cheng, Jian, Cheng, Shan, Cheng, Tongguang, Cheng, Weishuai, Cheong, Sanha, Chi, Yunlong, Chiarello, Gianluigi, Chiesa, Mauro, Chiu, Wen Han, Chou, Weiren, Chu, Chungming Paul, Chu, Ming-Chung, Chu, Xiaotong, Chu, Zhaolin, Chua, Chun-Khiang, Cibinetto, Gianluigi, Ciuchini, Marco, Cobal, Marina, Cochran, James, Coelho Lopes Sa, Rafael, Cossio, Fabio, Craig, Nathaniel, Cui, Han, Cui, Hanhua, Cui, Xiaohao, Cui, Zhaoyuan, Curtin, David, D Agnolo, Raffaele Tito, Dai, Jian-Ping, Dai, Jianping, Dai, Jin, Dai, Lei, Dai, Wei, Dai, Xuwen, Curtis, Stefania, Filippis, Nicola, Lucia, Erika, Mori, Francesca, Delgado, Antonio, Demarteau, Marcel, Deng, Changdong, Deng, Wei-Tian, Destefanis, Marco, Dev, P. 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Zhao, Yu, Zhao, Yue, Zhao, Zhengguo, Zhao, Zhen-Xing, Zhao, Zhuo, Zheng, Bo, Zheng, Hongjuan, Zheng, Liang, Zheng, Ran, Zheng, Shuxin, Zheng, Taifan, Zheng, Xuxing, Zheng, Ya-Juan, Zheng, Yangheng, Zhi, Yu, Zhong, Bin, Zhong, Yiming, Zhou, Bing, Zhou, Hai-Qing, Zhou, Hang, Zhou, Jia, Zhou, Jianxin, Zhou, Jing, Zhou, Maosen, Zhou, Nan, Zhou, Ning, Zhou, Ningchuang, Zhou, Shiyu, Zhou, Shun, Zhou, Sihong, Zhou, Siyi, Zhou, Xiang, Zhou, Yang, Zhou, Yi, Zhou, Yu-Feng, Zhou, Zusheng, Zhu, Changhe, Zhu, Chengguang, Zhu, Chenzheng, Zhu, Dechong, Zhu, Hongyan, Zhu, Hua-Xing, Zhu, Jiamin, Zhu, Jiang, Zhu, Jingya, Zhu, Jingyu, Zhu, Junjie, Zhu, Kai, Zhu, Kun, Zhu, Li, Zhu, Ruilin, Zhu, Xianglei, Zhu, Xuezheng, Zhu, Yifan, Zhu, Yingshun, Zhu, Yongfeng, Zhuang, Xuai, Zong, Hongshi, Zou, Cong, Zou, Jiaheng, Zou, Ye, Zupan, Jure, Institut de Recherches sur les lois Fondamentales de l'Univers (IRFU), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Laboratoire Leprince-Ringuet (LLR), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de l'Accélérateur Linéaire (LAL), Université Paris-Sud - Paris 11 (UP11)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Galaxies, Etoiles, Physique, Instrumentation (GEPI), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physique Subatomique et de Cosmologie (LPSC), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Institut de Physique Nucléaire de Lyon (IPNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physique Nucléaire et de Hautes Énergies (LPNHE (UMR_7585)), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CEPC Study Group, Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), and HEP, INSPIRE

Subjects
detector: technology, Higgs particle: particle source, electron positron: storage ring, [PHYS.HEXP] Physics [physics]/High Energy Physics - Experiment [hep-ex], engineering, FOS: Physical sciences, threshold: production, electron positron: annihilation, B-factory, High Energy Physics - Experiment, High Energy Physics - Experiment (hep-ex), High Energy Physics - Phenomenology (hep-ph), [PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex], accelerator: technology, detector: design, Particle Physics - Phenomenology, new physics, hep-ex, Z0: decay, Higgs-factory, High Energy Physics::Phenomenology, Z0: particle source, hep-ph, electron positron: colliding beams, sensitivity, CEPC, High Energy Physics - Phenomenology, tau: particle source, 240 GeV-cms, vertex: primary, Higgs particle: electroproduction, charm: particle source, High Energy Physics::Experiment, proposed experiment, numerical calculations: Monte Carlo, Z0-factory, performance, Particle Physics - Experiment
Abstract

The Circular Electron Positron Collider (CEPC) is a large international scientific facility proposed by the Chinese particle physics community to explore the Higgs boson and provide critical tests of the underlying fundamental physics principles of the Standard Model that might reveal new physics. The CEPC, to be hosted in China in a circular underground tunnel of approximately 100 km in circumference, is designed to operate as a Higgs factory producing electron-positron collisions with a center-of-mass energy of 240 GeV. The collider will also operate at around 91.2 GeV, as a Z factory, and at the WW production threshold (around 160 GeV). The CEPC will produce close to one trillion Z bosons, 100 million W bosons and over one million Higgs bosons. The vast amount of bottom quarks, charm quarks and tau-leptons produced in the decays of the Z bosons also makes the CEPC an effective B-factory and tau-charm factory. The CEPC will have two interaction points where two large detectors will be located. This document is the second volume of the CEPC Conceptual Design Report (CDR). It presents the physics case for the CEPC, describes conceptual designs of possible detectors and their technological options, highlights the expected detector and physics performance, and discusses future plans for detector R&D and physics investigations. The final CEPC detectors will be proposed and built by international collaborations but they are likely to be composed of the detector technologies included in the conceptual designs described in this document. A separate volume, Volume I, recently released, describes the design of the CEPC accelerator complex, its associated civil engineering, and strategic alternative scenarios., 424 pages

147. Investigation of 22q11.2 deletion syndrome using different strategies for an approach focused on healthcare

Author

Ilária Cristina Sgardioli, Lopes, Vera Lúcia Gil da Silva, 1967, Vieira, Tarsis Antonio Paiva, 1981, Melaragno, Maria Isabel, Meloni, Vera de Freitas Ayres, Maurer-Morelli, Cláudia Vianna, Bertuzzo, Carmen Sílvia, Universidade Estadual de Campinas. Faculdade de Ciências Médicas, Programa de Pós-Graduação em Ciências Médicas, and UNIVERSIDADE ESTADUAL DE CAMPINAS

Subjects
DNA copy number variations, Comparative genomic hybridization, Hibridização genômica comparativa, 22q11.2 deletion syndrome, Síndrome de deleção 22q11.2, Variações do número de cópias de DNA, Loss of heterozygosity, Perda de heterozigosidade
Abstract

Orientadores: Vera Lúcia Gil da Silva Lopes, Társis Antonio Paiva Vieira Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas Resumo: A Síndrome de Deleção 22q11.2 (SD22q11.2 - OMIM: #188400 e #192430) tem incidência estimada de 1/4.000 a 1/6.000 nascimentos. A heterogeneidade clínica desta afecção é um desafio universal para a sua suspeita. No Brasil o diagnóstico se dá por volta de 10 anos de idade, comprometendo o manejo apropriado e o aconselhamento genético. O objetivo deste trabalho foi avaliar possíveis estratégias para o diagnóstico de indivíduos com suspeita clínica de SD22q11.2, considerando duas propostas anteriores do Projeto Crânio-Face Brasil: aplicação de critérios clínicos específicos para a investigação laboratorial da SD22q11.2 e utilização de uma aplicação on-line para registro, seguimento e somatória desses critérios, a "CranFlow: craniofacial anomalies registration, flow and management". Foram revisados os dados clínicos e laboratoriais de 347 indivíduos registrados na Base Brasileira de Anomalias Craniofaciais /Síndrome de Deleção 22q11.2, no período de 2008 a 2017, inicialmente investigados para a SD22q11.2 por Hibridação in situ com Fluorescência (FISH) e/ou Amplificação de múltiplas sondas dependente de ligação (MLPA), detectando ao todo 98 casos positivos para a SD22q11.2 e cinco deleções atípicas em 22q11.2. Os 347 indivíduos foram divididos em dois grupos: (I) 168 indivíduos investigados antes da aplicação dos critérios e (II) 179 indivíduos investigados após aplicação dos critérios. A detecção da SD22q11.2 no Grupo I e no Grupo II foi de 26,79% e 29,61%, respectivamente. No Grupo II, a presença de indivíduos com SD22q11.2 e de critérios preenchidos (42,42%) foi significante quando comparada aos 13,75% que não preencheram os critérios. Foi significantemente relacionada à presença da SD 22q11.2, a associação de cardiopatias congênitas de alto valor preditivo e voz anasalada. Portanto, a análise da aplicação dos critérios clínicos propostos se mostrou uma ferramenta útil para a suspeita diagnóstica, uma vez que permitiu um incremento diagnóstico de 3,82%. Dos 249 casos negativos para SD22q11.2, a análise cromossômica em microarranjos (CMA) foi realizada para 133, cujos resultados foram reanalisados neste estudo com parâmetros atualizados de interpretação. Em 34 indivíduos os resultados foram diferentes dos anteriores, possibilitando duas conclusões diagnósticas que não foram possíveis anteriormente, além de sugerir a investigação complementar de três casos com suspeita de dissomia uniparental (UDP). As diferentes abordagens utilizadas neste estudo permitiram a conclusão diagnóstica de 117 casos (33,7%) da amostra, reforçando a complexidade da investigação genético-clínica. Embora, de modo geral, a CMA apresente maior rendimento, a aplicação dos critérios clínicos pode favorecer o diagnóstico quando utilizado em conjunto com técnicas locus-específicas, em situações em que a utilização de CMA não seja possível em larga escala. Ainda, na ausência de SD22q11.2, a investigação por CMA utilizando os parâmetros aplicados neste estudo impactariam positivamente no número de casos com diagnóstico conclusivo. Considerando uma possível estratégia para investigação da SD22q11.2 em larga escala, pode-se sugerir: a) treinamento de equipes; b) utilização dos critérios clínicos propostos e da CranFlow para registro e seguimento dos casos com suspeita desta microdeleção; c) hierarquização de exames genéticos, e d) centralização da investigação laboratorial pública. A proposta apresentada tem relevância universal e é aplicável ao Sistema Único de Saúde Abstract: The 22q11.2 Deletion Syndrome (22q11.2DS - OMIM: # 188400 and # 192430) has an estimated incidence of 1/4,000 to 1/6,000 births. The clinical heterogeneity of this condition is a universal challenge for its suspicion. In Brazil, the diagnosis occurs around 10 years of age, compromising appropriate management and genetic counseling. The aim of this study was to evaluate possible strategies for the diagnosis of individuals with clinical suspicion of 22q11.2DS, considering two previous proposals of the Brazil's Craniofacial Project: application of specific clinical criteria to proceed laboratory investigation of 22q11.2DS and use of an on-line application for registration, follow-up and summation of these criteria, the "CranFlow: craniofacial anomalies registration, flow and management". We reviewed the clinical and laboratory data of 347 individuals registered in the Brazilian Database on Craniofacial Anomalies/22q11.2 Deletion Syndrome, from 2008 to 2017, initially investigated for 22q11.2DS by Fluorescent in situ Hybridization (FISH) and/or Multiplex Ligation Probe-dependent Amplification (MLPA), detecting 98 cases with 22q11.2DS and five atypical deletions in 22q11.2. There were two groups of individuals: (I) 168 individuals investigated before the criteria application and (II) 179 individuals investigated after the criteria application. The detection of 22q11.2DS in the Group I and Group II was 26.79% and 29.61%, respectively. In Group II, the presence of individuals with 22q11.2DS who fulfilled criteria (42.42%) was significant when compared to the 13.75% who did not fill them. The association of congenital heart diseases with high predictive value and hypernasal voice was significantly related to the presence of 22q11.2DS. Therefore, the analysis of the application of the proposed clinical criteria proved to be a useful tool for the diagnostic suspicion, since it allowed a diagnostic increase of 3.82%. Of the 249 negative cases for SD22q11.2, the chromosomal microarray analysis was performed for 133 individuals and the results were reanalyzed in this study with updated interpretation parameters. The results were different from previous in 34 individuals, allowing two diagnostic conclusions, which were not possible previously. Besides, the complementary investigation of three cases with suspected uniparental disomy (UPD) was suggested. The different approaches used in this study allowed the diagnostic conclusion of 117 cases (33.7%) of the sample, reinforcing the complexity of genetic-clinical investigation. Although CMA is more effective, in general, the use of clinical criteria may improve diagnosis when used with locus-specific techniques, in situations where the use of CMA is not possible on a large scale. In addition, in cases with clinical suspicion but without SD22q11.2, the investigation by CMA using the parameters applied in this study would have a positive impact in the number of cases with a conclusive diagnosis. Considering a possible strategy for 22q11.2DS investigation of on a large scale, it may be suggested: a) training of teams; b) use of the proposed clinical criteria and of the CranFlow to record and follow up the cases with suspected microdeletion; c) hierarchization of genetic tests, and d) centralization of the public laboratory investigation. The proposal presented has universal relevance and is applicable to the Unified Health System Doutorado Genética Médica Doutora em Ciências

Published
2018

148. Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

Author

Meloni Vde F, Piazzon FB, Soares Mde F, Takeno SS, Christofolini DM, Kulikowski LD, Brunoni D, and Melaragno MI

Subjects
Abnormalities, Multiple diagnosis, Adult, Chromosome Banding, Cytogenetic Analysis, False Negative Reactions, Female, Humans, Infant, Karyotype, Male, Muscular Atrophy genetics, Young Adult, Abnormalities, Multiple genetics, Chromosome Deletion, Chromosome Duplication genetics, Chromosomes, Human, Pair 20 genetics, Chromosomes, Human, Pair 9 genetics
Abstract

We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification (MLPA) techniques identified an unexpected large unbalanced genomic aberration: a 17.6Mb deletion of 9p associated to a 14.8 Mb duplication of 20p. The deleted 9p genes, especially CER1 and FREM1, seem to be more relevant to the phenotype than the duplicated 20p genes. This study also shows the relevance of using molecular techniques to make an accurate diagnosis in patients with dysmorphic features and multiple anomalies suggestive of chromosome aberration, even if on G-banding their karyotype appears to be normal. Fluorescence in situ hybridization (FISH) was necessary to identify a masked balanced translocation in the patient's mother, indicating the importance of associating cytogenetic and molecular techniques in clinical genetics, given the implications for patient management and genetic counseling., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Published
2012
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