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231 results on '"Schneider, Al"'

3. Corolla Versus Calyx

Author

Schneider, Al

Subjects
Lewis Co., Labels, Science and technology
Abstract

To the Editors: Please make 'Botany Corner' a staple in every issue. However, the labels on the upper left of the Cuscuta europaea illustration in the November-December 2019 issue have [...]

Published
2020

6. A ripple of praise for MQA

Author

Schneider, Al

Subjects
Consumer news and advice, Electronics
Abstract

Editor: ... in a sea of pessimism. I understand some of the concerns regarding MQA, others not so much. Sound quality appears a unanimous thumbs-up to those with extensive exposure [...]

Published
2018

7. 4FX.

Author

SCHNEIDER, AL

Published
2019

8. Hole Hop.

Author

SCHNEIDER, AL

Published
2019

9. Temperature Selection for Wave Soldering with Lead-Free Alloys -- Wetting balance testing established the best wave soldering temperatures for several lead-free alloys with a typical low-solids, no-clean flux

Author

Schneider, Al

Subjects
Electronic components industry -- Quality management, Solder and soldering -- Testing, Business, Electronics and electrical industries, Engineering and manufacturing industries
Abstract

Wetting balance has long been a useful laboratory test for evaluating solder wetting properties as a pre-screen for what can be expected in a printed circuit assembly process on the [...]

Published
2001

21. Introducción

Author

Jaime Zuluaga Nieto and Schneider, Alejandro

Published
2021

22. Frontasunto

Author

Jaime Zuluaga Nieto and Schneider, Alejandro

Published
2021

23. Contenido

Author

Jaime Zuluaga Nieto and Schneider, Alejandro

Published
2021

24. Haas's prayer and neurology

Author

Schneider, Al

Subjects
Science and technology
Abstract

In the article 'Prayer: A Neurological Inquiry' (David C. Haas, March/April 2007), the author demonstrates that there is no scientific way a supernatural being could read and know a person's [...]

Published
2007

25. Technology assessment. An American Medical Association perspective

Author

Kalousdian S, Loeb Jm, and Schneider Al

Subjects
medicine.medical_specialty, Medical education, Sociology of scientific knowledge, Rehabilitation, Technology Assessment, Biomedical, business.industry, medicine.medical_treatment, Perspective (graphical), General Medicine, Technology assessment, United States, Clinical Practice, Family medicine, medicine, Humans, business, Family Practice, American Medical Association
Abstract

The contemporary practice of medicine depends on the use of a wide array of technologies that did not exist 40 years ago. An exponential increase in our scientific knowledge base, and the subsequent application of this new information to clinical practice, have dramatically extended longevity, enhanced the quality of life, and improved the overall health status of the American public. Clinical medicine has become "a set of technologies for diagnosis, prevention, treatment, and rehabilitation."

Published
1992

26. Accidental Archivism

Author

Agina, Añulika, Alipanah, Hadi, Babić, Gaby, Balatbat-Helbock, Lynhan, Balsom, Erika, Beckmann, Marie Sophie, Bernien, Mareike, Biswas, Amrita, Çakmak, Sema, Campanini, Sonia, Carter, Erica, Çelikaslan, Özge, César, Filipa, Cheeka, Didi, Davis, Vaginal, Dutta, Madhusree, El Said, Tamer, Escobar López, Almudena, Glazunova, Mariia, Gregor, Ulrich, Goncharuk, Olena, Gramann, Karola, Hariharan, Veena, Hassan, Mohammad Shawky, Heredia, Shai, Hering, Tobias, Ingravalle, Grazia, Kaushik, Ritika, Keidl, Philipp Dominik, Pratiwi, Julita, Rahman, Lisabona, Khitsinska, Ivanna, Kim, Hieyoon, Kloeckner, Laura, Kröger, Merle, Makarevic, Asja, Meyn, Nils, Ndaliko Katondolo, Petna, Ohene-Asah, Rebecca, Pantenburg, Volker, Perneczky, Nikolaus, Pitassio, Francesco, Ruhm, Constanze, Schlüpmann, Heide, Schneider, Alexandra, Shambu, Girish, Siegel, Marc, Sungu, Can, Thieme, Clarissa, Turajlić, Mila, Vasudevan, Ravi, Venturini, Simone, Younis, Ala, Schulte Strathaus, Stefanie, and Hediger, Vinzenz

Subjects
activism, pandemic, cinema, digitality, archivism, media ecology, repositories, bic Book Industry Communication::A The arts::AP Film, TV & radio::APF Films, cinema::APFA Film theory & criticism, bic Book Industry Communication::G Reference, information & interdisciplinary subjects::GL Library & information sciences::GLC Library, archive & information management, bic Book Industry Communication::J Society & social sciences::JF Society & culture: general::JFD Media studies
Abstract

In the digital media ecology, archives are changing. Artists, curators, critics and scholars assume the role of accidental archivists. They shape cinema’s futures by salvaging precarious repositories and making them matter in new ways. In the process, the cinema’s public, a democratic body seemingly scattered about platforms and niches in a post-pandemic world, re-emerges as a political force. Accidental Archivism brings together programmatic statements and proposals to explore an artistic space between archiving and activism, a space where remnants of the past become the building blocks of new ways of making, showing, teaching and thinking cinema.

Published
2023
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27. Low hemoglobin A(1c) in nondiabetic adults: an elevated risk state?

Author

Aggarwal V, Schneider AL, Selvin E, Aggarwal, Vikas, Schneider, Andrea L C, and Selvin, Elizabeth

Abstract

Objective: To identify predictors of low hemoglobin A(1c) (HbA(1c)) (<5.0%) and to investigate the association of low HbA(1c) with cause-specific mortality and risk of liver disease hospitalization.Research Design and Methods: Prospective cohort study of 13,288 participants in the Atherosclerosis Risk in Communities Study. Logistic regression was used to identify cross-sectional correlates of low HbA(1c), and Cox proportional hazards models were used to estimate the association of low HbA(1c) with cause-specific mortality.Results: Compared with participants with HbA(1c) in the normal range (5.0 to <5.7%), participants with low HbA(1c) were younger, less likely to smoke, had lower BMI, lower white cell count and fibrinogen levels, and lower prevalence of hypercholesterolemia and history of coronary heart disease. However, this group was more likely to have anemia and had a higher mean corpuscular volume. In adjusted Cox models with HbA(1c) of 5.0 to <5.7% as the reference group, HbA(1c) <5.0% was associated with a significantly increased risk of all-cause mortality (hazard ratio [HR]: 1.32, 95% CI: 1.13-1.55) and of cancer death (1.47, 95% CI: 1.16-1.84). We also noted nonsignificant trends toward increased risk of death from cardiovascular causes (1.27, 95% CI: 0.93-1.75) and respiratory causes (1.42, 95% CI: 0.78-2.56). There was a J-shaped association between HbA(1c) and risk of liver disease hospitalization.Conclusions: No single cause of death appeared to drive the association between low HbA(1c) and total mortality. These results add to evidence that low HbA(1c) values may be a generalized marker of mortality risk in the general population. [ABSTRACT FROM AUTHOR]

Published
2012

28. Counterpoint: emergency ('stat') EEG in the era of nonconvulsive status epilepticus.

Author

Jordan KG and Schneider AL

Abstract

The most widely accepted indication for a stat EEG (stEEG) is the suspicion of nonconvulsive status epilepticus (NCSE). NCSE has been reported with surprising frequency in a wide variety of acute structural and metabolic brain injuries and significantly increases the risk of permanent brain damage and death. This risk rises and the effectiveness of treatment decreases with delays in diagnosis and increased duration of NCSE. Recent evidence confirms that more than half of NCSE patients improve with anti-seizure treatment. The emergence of NCSE as a common, dangerous, time-urgent, and treatable problem has positioned it as a target for emergency therapeutic intervention. NCSE can only be diagnosed by EEG testing, and stEEG has demonstrated value in improving NCSE management. As a result, in the near future, EEG laboratories will see increasing demands for stEEG related to NCSE. The two main obstacles to an effective stEEG program are EEG technologist coverage and electroencephalographer availability after work hours. We recommend three simple but fundamental changes in the traditional approach to stEEGs in order to overcome these obstacles: the use of EEG set-up templates by onsite personnel, easy access to EEG instruments after hours, and remote stEEG connectivity for real-time, off-site electroencephalographer interpretation. [ABSTRACT FROM AUTHOR]

Published
2009
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29. Subdermal needle electrodes: an option for emergency ('Stat') EEGs.

Author

Schneider AL

Abstract

Emergency or 'stat' EEGs are ordered on patients who are suspected to have serious acute brain dysfunction (ABD). Often, these patients are comatose or have some altered level of consciousness (ALOC) from stroke, brain hemorrhage, head trauma, encephalopathy, seizures, or status epilepticus--which may be convulsive (SE) or non-convulsive (NCSE). As the number of stat EEGs increases, consider alternatives to traditional methods and tools, keeping overall patient care and outcome in mind. [ABSTRACT FROM AUTHOR]

Published
2006
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30. Regional Attenuation WithOut Delta (RAWOD): a distinctive EEG pattern that can aid in the diagnosis and management of severe acute ischemic stroke.

Author

Schneider AL and Jordan KG

Abstract

Acute thrombolysis with recombinant tissue plasminogen activator (tPA) is the only treatment of proven effectiveness in acute ischemic stroke (AIS). Cerebral edema (CE) is the most feared and fatal complication of AIS. For both of these conditions, patient selection for treatment and timing of intervention are crucial but controversial issues. Conventional diagnostic tools for AIS, including the neurological exam, computerized cerebral tomography (CT) Scan, and magnetic resonance imaging (MRI) have not as yet been able to determine which patients are the best risk-benefit candidates for thrombolysis, nor are they sensitive to the early detection of patients at risk for cerebral edema. This article suggests that the use of Emergency EEG (EmEEG) in AIS can reveal a distinctive EEG pattern that adds value to the selection of patients for thrombolytic and cerebral edema treatment. This pattern, called RAWOD (Regional Attenuation WithOut Delta) can identify patients with massive AIS earlier than CT or MRI. Patients with RAWOD are unlikely to benefit from thrombolysis but may be candidates for early surveillance and intervention for cerebral edema. [ABSTRACT FROM AUTHOR]

Published
2005
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31. Letters.

Author

Schneider, Al, Bair, Richard, Host, Glenn, and Smith, Thomas J.

Subjects
*COROLLA (Botany)
Published
2020

32. The Schneider Technique: Osmosis.

Author

Schneider, Al

Abstract

The article demonstrates a coin trick. The performer of the trick put three silver dollars at his fingertips. Each coin is keep perpendicular to the floor and separate in a palm-up hand so that the faces of all three coins can be seen by the audience. The performer then put a transparent cloth over the three coins. After that, the performer seems to reach the cloth and pull out a coin and dropped to the table. Same thing is to be done on two coins. Other variations of the trick and props used are cited.

Published
2006

34. About Letting Go.

Author

Schneider, Al

Abstract

The article offers the author's analysis on the error of the Schneider Vanish coin trick in which the pretend coin leaves one hand and fly into the other hand. The author states that the pretend coin being tossed from one hand to the other hand experiences same effect. The author mentions that the sending hand launches the coin towards the receiving hand while the control of the coin is gained when receiving hands snaps the coin.

Published
2014

35. Sodium Taurocholate Co-transporting Polypeptide deficiency

Author

Schneider, AL, Köhler, H., Röthlisberger, B., Grobholz, R., and McLin, V.A.

Abstract

•What is already known on this subject? NTCP deficiency is associated with hypercholanemia.•What are the new findings?Upon review of the literature, serum bile acid levels may be related to the mutation.•How might it impact on clinical practice in the foreseeable future?NTCP deficiency should be considered as part of the differential diagnosis of unexplained failure to thrive, anicteric cholestasis, fetal demise, or unexplained histological liver abnormalities associated with hypercholanemia.

Published
2021
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37. Versorgungs-Report: Klima und Gesundheit

Author

Günster, Christian, Klauber, Jürgen, Robra, Bernt-Peter, Schmuker, Caroline, and Schneider, Alexandra

Subjects
changes in behaviour, health risk, hospitalisation, heat stress, environment, climate change, bic Book Industry Communication::K Economics, finance, business & management::KN Industry & industrial studies::KNX Industrial relations, health & safety::KNXC Health & safety issues
Abstract

The current health care report examines the effects of climate change on our health and the consequences for medical care in Germany. He brings together the different perspectives of environmental epidemiology, medicine and health policy. In a total of 16 specialist articles, experts analyze the influence of climate change on the incidence of illnesses, population groups at risk and health care infrastructures. The aim of the report is to prepare current scientific findings for healthcare practice and thus to contribute to a greater awareness of the health consequences of climate change in society. The following are presented: - Climate science basics and health effects of climate change - supply-related analyzes of significant health risks and prevention recommendations - Behavior of the population based on a current Germany-wide survey - Need for adjustment at the infrastructural-organizational level The “data and analyzes” section provides comprehensive information on the frequency of illnesses and treatments in Germany.

Published
2021
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38. Format Matters

Author

Jancovic, Marek, Volmar, Axel, and Schneider, Alexandra

Subjects
Formats, Formatting, Standards, Practices, Politics, Media Cultures, bic Book Industry Communication::A The arts::AP Film, TV & radio
Abstract

From TIFF files to TED talks, from book sizes to blues stations—the term “format” circulates in a staggering array of contexts and applies to entirely dissimilar objects and practices. How can such a pliable notion meaningfully function as an instrument of classification in so many industries and scientific communities? Comprising a wide range of case studies on the standards, practices, and politics of formats from scholars of photography, film, radio, television, and the Internet, Format Matters charts the many ways in which formats shape and are shaped by past and present media cultures. This volume represents the first sustained collaborative effort to advance the emerging field of format studies.

Published
2019
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39. LETTERS.

Author

Blumenstein, David, Schneider, Al, Penrose, John, Atkinson, John, and Rutten, Craig

Subjects
BUDGET, LOUDSPEAKERS, AUDIO amplifiers
Published
2018

40. The Schneider Technique.

Author

Schneider, Al

Abstract

The article provides information about the magic trick "Squeeze," created by Al Schneider. The materials needed for the magic trick were outlined. The techniques in performing the magic trick were revealed. Suggestions in performing the magic trick were offered. Some tips in manipulating the gimmicked coin were presented.

Published
2006

41. The Intention of Reality.

Author

Schneider, Al

Abstract

The article provides step-by-step instructions for doing a magic trick that makes a silver dollar disappear and reappear on one's hand.

Published
2006

43. Five Steps to Mastery.

Author

Schneider, Al

Abstract

Presents the five basic factors required to master a skill in magic. Need for any technology or methodology which is related to the skill to work; Importance of knowing that the technology or methodology works; Understanding of the technology or methodology that is being employed.

Published
2005

44. A Marriage of Cards.

Author

Schneider, Al

Abstract

Focuses on a version of the back-to-back card-fusion plot popularized by magician Doc Eason. Assembly of a deck of double-faced cards; Pairing of the face-up with the face-down cards; Preparation for fusing the cards together.

Published
2005

45. Reaction Packed!

Author

Schneider, Al

Abstract

Presents tips and techniques in performing the Schneider Technique card trick. Features of the card trick; Preparations; Step-by-step performance of the card trick.

Published
2005

46. Big and Little Magic.

Author

Schneider, Al

Abstract

Discusses the size issue that concerns the author when performing as a magician. Comparison of his act with that of Jeff McBride when he does the Linking Rings act on stage; Description of some performances of magicians where the size issue is not a problem.

Published
2005

47. Versorgungs-Report Klima und Gesundheit

Author

Schneider, Alexandra, Schmuker, Caroline, Günster, Christian, Klauber, Jürgen, and Robra, Bernt-Peter

Subjects
Medical, Administration, bic Book Industry Communication::M Medicine::MB Medicine: general issues::MBP Health systems & services::MBPM Medical administration & management
Abstract

Der aktuelle Versorgungsreport geht der Frage nach, welche Auswirkungen der Klimawandel auf unsere Gesundheit hat und welche Konsequenzen sich daraus für die medizinische Versorgung in Deutschland ergeben. Dabei bringt er die unterschiedlichen Perspektiven von Umweltepidemiologie, Medizin und Gesundheitspolitik zusammen. Expertinnen und Experten analysieren in insgesamt 16 Fachbeiträgen den Einfluss des Klimawandels auf Erkrankungshäufigkeiten, gefährdete Bevölkerungsgruppen und Infrastrukturen der Gesundheitsversorgung. Der Report verfolgt das Ziel, aktuelle wissenschaftliche Erkenntnisse für die Versorgungspraxis aufzubereiten und so zu einer stärkeren Sensibilisierung für die gesundheitlichen Folgen des Klimawandels in der Gesellschaft beizutragen. Dargelegt werden: - klimawissenschaftliche Grundlagen und Gesundheitsfolgen der Klimaveränderungen - versorgungsbezogene Analysen zu bedeutsamen Gesundheitsrisiken und Präventionsempfehlungen - Verhalten der Bevölkerung auf Basis einer aktuellen deutschlandweiten Befragung - Anpassungsbedarf auf infrastrukturell-organisatorischer Ebene Der Teil „Daten und Analysen“ informiert umfassend über die Häufigkeit von Erkrankungen und Behandlungen in Deutschland.

Published
2021

48. Conseco still hungry, financial analyst say.

Author

Schneider, Al

Abstract

Reports on Conseco Inc.'s deals. Cancellation of deal with Kemper Corp.; Stephen Hilbert as president; Plan to merge with Louisville-based ICH Corp.; Offer for the financial services firm in June 1995; Stock price; Other acquisitions; 1993 net income.

Published
1994

49. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Author

Vincenzo Salpietro1, 2 3, 140, Christine L. Dixon4, Hui Guo5, 6 140, Oscar D. Bello Stephanie Efthymiou 1, 4, Reza Maroofian1, Gali Heimer7, Lydie Burglen 8, Stephanie Valence 9, Erin Torti 10, Moritz Hacke11, Julia Rankin12, Huma Tariq1, Estelle Colin13, Vincent Procaccio13, Pasquale Striano2, 3, Kshitij Mankad15, Andreas Lieb 4, Sharon Chen16, Laura Pisani16, Conceicao Bettencourt 17, Roope Männikkö 1, Andreea Manole1, Alfredo Brusco 18, Enrico Grosso18, Giovanni Battista Ferrero19, Judith Armstrong-Moron20, Sophie Gueden21, Omer Bar-Yosef7, Michal Tzadok7, Kristin G. Monaghan10, Teresa Santiago-Sim10, Richard E. Person10, Megan T. Cho10, Rebecca Willaert10, Yongjin Yoo22, Jong-Hee Chae23, Yingting Quan6, Huidan Wu6, Tianyun Wang5, 6, Raphael A. Bernier24, Kun Xia6, Alyssa Blesson25, Mahim Jain25, Mohammad M. Motazacker26, Bregje Jaeger27, Amy L. Schneider 28, Katja Boysen28, Alison M. Muir 29, Candace T. Myers30, Ralitza H. Gavrilova31, Lauren Gunderson31, Laura Schultz-Rogers 31, Eric W. Klee31, David Dyment32, Matthew Osmond32, 33 34, Mara Parellada35, Cloe Llorente36, Javier Gonzalez-Peñas37, Angel Carracedo38, Arie Van Haeringen40, Claudia Ruivenkamp40, Caroline Nava41, Delphine Heron41, Rosaria Nardello42, Michele Iacomino43, Carlo Minetti2, Aldo Skabar44, Antonella Fabretto44, SYNAPS Study GroupMiquel Raspall-Chaure45, Michael Chez46, Anne Tsai47, Emily Fassi48, Marwan Shinawi48, John N. Constantino49, Rita De Zorzi50, Sara Fortuna 50, Fernando Kok51, Boris Keren41, Dominique Bonneau13, Murim Choi 22, Bruria Benzeev7, Federico Zara43, Heather C. Mefford29, Ingrid E. Scheffer28, Jill Clayton-Smith53, Alfons Macaya45, James E. Rothman4, Evan E. Eichler 5, Dimitri M. Kullmann 4, Henry Houlden 1, SYNAPS Study Group Michael G. Hanna1, Enrico Bugiardini1, Isabel Hostettler1, Benjamin O’Callaghan1, Alaa Khan1, Andrea Cortese1, Emer O’Connor1, Wai Y. Yau1, Thomas Bourinaris1, Rauan Kaiyrzhanov1, Viorica Chelban1, Monika Madej1, Maria C. Diana2, Maria S. Vari2, Marina Pedemonte2, Claudio Bruno2, Ganna Balagura3, Marcello Scala3, Chiara Fiorillo3, Lino Nobili3, Nancy T. Malintan4, Maria N. Zanetti4, Shyam S. Krishnakumar4, Gabriele Lignani4, James E. C. Jepson4, Paolo Broda43, Simona Baldassari43, Pia Rossi43, Floriana Fruscione43, Francesca Madia43, Monica Traverso43, Patrizia De-Marco43, Belen Pérez-Dueñas45, Francina Munell45, Yamna Kriouile57, Mohamed El-Khorassani57, Blagovesta Karashova58, Daniela Avdjieva58, Hadil Kathom58, Radka Tincheva58, Lionel Van-Maldergem59, Wolfgang Nachbauer60, Sylvia Boesch60, Antonella Gagliano61, Elisabetta Amadori62, Jatinder S. Goraya63, Tipu Sultan64, Salman Kirmani65, Shahnaz Ibrahim66, Farida Jan66, Jun Mine67, Selina Banu68, Pierangelo Veggiotti69, Gian V. Zuccotti69, Michel D. Ferrari70, Arn M. J. Van Den Maagdenberg70, Alberto Verrotti71, Gian L. Marseglia72, Salvatore Savasta72, Miguel A. Soler73, Carmela Scuderi74, Eugenia Borgione74, Roberto Chimenz75, Eloisa Gitto75, Valeria Dipasquale75, Alessia Sallemi75, Monica Fusco75, Caterina Cuppari75, Maria C. Cutrupi75, Martino Ruggieri76, Armando Cama77, Valeria Capra77, Niccolò E. Mencacci78, Richard Boles79, Neerja Gupta80, Madhulika Kabra80, Savvas Papacostas81, Eleni Zamba-Papanicolaou81, Efthymios Dardiotis82, Shazia Maqbool83, Nuzhat Rana84, Osama Atawneh85, Shen Y. Lim86, Farooq Shaikh87, George Koutsis88, Marianthi Breza88, Domenico A. Coviello89, Yves A. Dauvilliers90, Issam AlKhawaja91, Mariam AlKhawaja92, Fuad Al-Mutairi93, Tanya Stojkovic94, Veronica Ferrucci, Massimo Zollo, Fowzan S. Alkuraya96, Maria Kinali97, Hamed Sherifa98, Hanene Benrhouma99, Ilhem B. Y. Turki99, Meriem Tazir100, Makram Obeid101, Sophia Bakhtadze102, Nebal W. Saadi103, Maha S. Zaki104, Chahnez C. Triki105, Fabio Benfenati106, Stefano Gustincich106, Majdi Kara107, Vincenzo Belcastro108, Nicola Specchio109, Giuseppe Capovilla110, Ehsan G. Karimiani111, Ahmed M. Salih112, Njideka U. Okubadejo113, Oluwadamilola O. Ojo113, Olajumoke O. Oshinaike113, Olapeju Oguntunde113, Kolawole Wahab114, Abiodun H. Bello114, Sanni Abubakar115, Yahaya Obiabo116, Ernest Nwazor117, Oluchi Ekenze118, Uduak Williams119, Alagoma Iyagba120, Lolade Taiwo121, Morenikeji Komolafe122, Konstantin Senkevich123, Chingiz Shashkin124, Nazira Zharkynbekova125, Kairgali Koneyev126, Ganieva Manizha127, Maksud Isrofilov127, Ulviyya Guliyeva128, Kamran Salayev129, Samson Khachatryan130, Salvatore Rossi131, Gabriella Silvestri131, Nourelhoda Haridy132, Luca A. Ramenghi133, Georgia Xiromerisiou134, Emanuele David135, Mhammed Aguennouz136, Liana Fidani137, Cleanthe Spanaki138, Arianna Tucci139, University College of London [London] (UCL), Instituto Giannina Gaslini, Genoa, University of Genoa (UNIGE), University of Washington [Seattle], Institute of Neurology, Queen Square, London, King‘s College London, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), GeneDx [Gaithersburg, MD, USA], Heidelberg University Hospital [Heidelberg], Royal Devon and Exeter NHS Foundation Trust [UK], Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Universita degli studi di Genova, Great Ormond Street Hospital for Children [London] (GOSH), The University of Sydney, Hofstra University [Hempstead], Università degli studi di Torino (UNITO), Hospital Sant Joan de Déu [Barcelona], Safra Children's Hospital, Seoul National University Hospital, Central South University [Changsha], Kennedy Krieger Institute [Baltimore], University of Amsterdam [Amsterdam] (UvA), University of Melbourne, Mayo Clinic [Rochester], Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, University of Ottawa [Ottawa], University of British Columbia (UBC), Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Universidade de Santiago de Compostela [Spain] (USC ), Universiteit Leiden [Leiden], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Palermo - University of Palermo, University of Trieste, Universitat Autònoma de Barcelona (UAB), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California [Davis] (UC Davis), University of California-University of California, Children’s Hospital Colorado, University of Colorado Anschutz [Aurora], Washington University in Saint Louis (WUSTL), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Psychiatry, Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, University of Oxford [Oxford], University of São Paulo (USP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Service de Pédiatrie, CHUR Poitiers, Seoul National University [Seoul] (SNU), Pediatric Neurology and Neuromuscular Diseases Unit, University of Manchester [Manchester], Yale University School of Medicine, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Salvy-Córdoba, Nathalie, Università degli studi di Genova = University of Genoa (UniGe), Tel Aviv University (TAU), Università degli studi di Torino = University of Turin (UNITO), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Trieste = University of Trieste, University of California (UC)-University of California (UC), University of Oxford, Universidade de São Paulo = University of São Paulo (USP), Yale School of Medicine [New Haven, Connecticut] (YSM), Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Salpietro, Vincenzo, Dixon, Christine L, Guo, Hui, Bello, Oscar D, Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andrea, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G, Santiago-Sim, Teresa, Person, Richard E, Cho, Megan T, Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A, Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M, Jaeger, Bregje, Schneider, Amy L, Boysen, Katja, Muir, Alison M, Myers, Candace T, Gavrilova, Ralitza H, Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W, Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N, De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Bori, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C, Scheffer, Ingrid E, Clayton-Smith, Jill, Macaya, Alfon, Rothman, James E, Eichler, Evan E, Kullmann, Dimitri M, Houlden, Henry, Salpietro1, Vincenzo, 3, 2, Dixon4, Christine L., Guo5, Hui, 140, 6, Bello Stephanie Efthymiou 1, Oscar D., Maroofian1, Reza, Heimer7, Gali, 8, Lydie Burglen, 9, Stephanie Valence, Torti 10, Erin, Hacke11, Moritz, Rankin12, Julia, Tariq1, Huma, Colin13, Estelle, Procaccio13, Vincent, Striano2, Pasquale, Mankad15, Kshitij, 4, Andreas Lieb, Chen16, Sharon, Pisani16, Laura, Bettencourt 17, Conceicao, 1, Roope Männikkö, Manole1, Andreea, Brusco 18, Alfredo, Grosso18, Enrico, Battista Ferrero19, Giovanni, Armstrong-Moron20, Judith, Gueden21, Sophie, Bar-Yosef7, Omer, Tzadok7, Michal, Monaghan10, Kristin G., Santiago-Sim10, Teresa, Person10, Richard E., Cho10, Megan T., Willaert10, Rebecca, Yoo22, Yongjin, Chae23, Jong-Hee, Quan6, Yingting, Wu6, Huidan, Wang5, Tianyun, Bernier24, Raphael A., Xia6, Kun, Blesson25, Alyssa, Jain25, Mahim, Motazacker26, Mohammad M., Jaeger27, Bregje, Schneider 28, Amy L., Boysen28, Katja, Muir 29, Alison M., Myers30, Candace T., Gavrilova31, Ralitza H., Gunderson31, Lauren, Schultz-Rogers 31, Laura, Klee31, Eric W., Dyment32, David, Osmond32, Matthew, 34, 33, Parellada35, Mara, Llorente36, Cloe, Gonzalez-Peñas37, Javier, Carracedo38, Angel, Van Haeringen40, Arie, Ruivenkamp40, Claudia, Nava41, Caroline, Heron41, Delphine, Nardello42, Rosaria, Iacomino43, Michele, Minetti2, Carlo, Skabar44, Aldo, Fabretto44, Antonella, Study GroupMiquel Raspall-Chaure45, Synap, Chez46, Michael, Tsai47, Anne, Fassi48, Emily, Shinawi48, Marwan, Constantino49, John N., De Zorzi50, Rita, Fortuna 50, Sara, Kok51, Fernando, Keren41, Bori, Bonneau13, Dominique, Choi 22, Murim, Benzeev7, Bruria, Zara43, Federico, Mefford29, Heather C., Scheffer28, Ingrid E., Clayton-Smith53, Jill, Macaya45, Alfon, Rothman4, James E., Eichler 5, Evan E., Kullmann 4 &amp, Dimitri M., 1, Henry Houlden, Hanna1, SYNAPS Study Group Michael G., Bugiardini1, Enrico, Hostettler1, Isabel, O’Callaghan1, Benjamin, Khan1, Alaa, Cortese1, Andrea, O’Connor1, Emer, Yau1, Wai Y., Bourinaris1, Thoma, Kaiyrzhanov1, Rauan, Chelban1, Viorica, Madej1, Monika, Diana2, Maria C., Vari2, Maria S., Pedemonte2, Marina, Bruno2, Claudio, Balagura3, Ganna, Scala3, Marcello, Fiorillo3, Chiara, Nobili3, Lino, Malintan4, Nancy T., Zanetti4, Maria N., Krishnakumar4, Shyam S., Lignani4, Gabriele, Jepson4, James E. C., Broda43, Paolo, Baldassari43, Simona, Rossi43, Pia, Fruscione43, Floriana, Madia43, Francesca, Traverso43, Monica, De-Marco43, Patrizia, Pérez-Dueñas45, Belen, Munell45, Francina, Kriouile57, Yamna, El-Khorassani57, Mohamed, Karashova58, Blagovesta, Avdjieva58, Daniela, Kathom58, Hadil, Tincheva58, Radka, Van-Maldergem59, Lionel, Nachbauer60, Wolfgang, Boesch60, Sylvia, Gagliano61, Antonella, Amadori62, Elisabetta, Goraya63, Jatinder S., Sultan64, Tipu, Kirmani65, Salman, Ibrahim66, Shahnaz, Jan66, Farida, Mine67, Jun, Banu68, Selina, Veggiotti69, Pierangelo, Zuccotti69, Gian V., Ferrari70, Michel D., Van Den Maagdenberg70, Arn M. J., Verrotti71, Alberto, Marseglia72, Gian L., Savasta72, Salvatore, Soler73, Miguel A., Scuderi74, Carmela, Borgione74, Eugenia, Chimenz75, Roberto, Gitto75, Eloisa, Dipasquale75, Valeria, Sallemi75, Alessia, Fusco75, Monica, Cuppari75, Caterina, Cutrupi75, Maria C., Ruggieri76, Martino, Cama77, Armando, Capra77, Valeria, Mencacci78, Niccolò E., Boles79, Richard, Gupta80, Neerja, Kabra80, Madhulika, Papacostas81, Savva, Zamba-Papanicolaou81, Eleni, Dardiotis82, Efthymio, Maqbool83, Shazia, Rana84, Nuzhat, Atawneh85, Osama, Lim86, Shen Y., Shaikh87, Farooq, Koutsis88, George, Breza88, Marianthi, Coviello89, Domenico A., Dauvilliers90, Yves A., Alkhawaja91, Issam, Alkhawaja92, Mariam, Al-Mutairi93, Fuad, Stojkovic94, Tanya, Ferrucci, Veronica, Zollo, Massimo, Alkuraya96, Fowzan S., Kinali97, Maria, Sherifa98, Hamed, Benrhouma99, Hanene, Turki99, Ilhem B. Y., Tazir100, Meriem, Obeid101, Makram, Bakhtadze102, Sophia, Saadi103, Nebal W., Zaki104, Maha S., Triki105, Chahnez C., Benfenati106, Fabio, Gustincich106, Stefano, Kara107, Majdi, Belcastro108, Vincenzo, Specchio109, Nicola, Capovilla110, Giuseppe, Karimiani111, Ehsan G., Salih112, Ahmed M., Okubadejo113, Njideka U., Ojo113, Oluwadamilola O., Oshinaike113, Olajumoke O., Oguntunde113, Olapeju, Wahab114, Kolawole, Bello114, Abiodun H., Abubakar115, Sanni, Obiabo116, Yahaya, Nwazor117, Ernest, Ekenze118, Oluchi, Williams119, Uduak, Iyagba120, Alagoma, Taiwo121, Lolade, Komolafe122, Morenikeji, Senkevich123, Konstantin, Shashkin124, Chingiz, Zharkynbekova125, Nazira, Koneyev126, Kairgali, Manizha127, Ganieva, Isrofilov127, Maksud, Guliyeva128, Ulviyya, Salayev129, Kamran, Khachatryan130, Samson, Rossi131, Salvatore, Silvestri131, Gabriella, Haridy132, Nourelhoda, Ramenghi133, Luca A., Xiromerisiou134, Georgia, David135, Emanuele, Aguennouz136, Mhammed, Fidani137, Liana, Spanaki138 &amp, Cleanthe, and Tucci139, Arianna

Subjects
Male, [SDV.GEN] Life Sciences [q-bio]/Genetics, Ion channels in the nervous system, Cohort Studies, fluids and secretions, Loss of Function Mutation, Receptors, AMPA, AMPA receptor, lcsh:Science, Child, reproductive and urinary physiology, AMPA receptor, GluA2, neurodevelopmental disorders, autism spectrum disorder, glutamatergic synaptic transmission, GRIA2, neurodevelopmental disorders, Developmental disorders, Neurodevelopmental disorders, Brain, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, GluA2, Child, Preschool, Female, Adult, Heterozygote, Adolescent, Science, autism spectrum disorder, Article, Young Adult, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics, Receptors AMPA/genetics, Intellectual Disability, mental disorders, Humans, Infant, Neurodevelopmental Disorders, Receptors, AMPA, GRIA2, Preschool, Ion channel in the nervous system, Developmental disorders, Synaptic development, NG sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, glutamatergic synaptic transmission, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, NG sequencing, Synaptic development, Ion channel in the nervous system, Next-generation sequencing, lcsh:Q
Abstract

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission., Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transport and AMPAR currents.”

Published
2019

50. Epileptic spasms are a feature ofDEPDC5mTORopathy

Author

Samuel F. Berkovic, Simone Mandelstam, Douglas E. Crompton, Matthew Zemel, Gemma L. Carvill, Amy L Schneider, Jacinta M McMahon, A. Simon Harvey, Julia Saykally, Joseph Sullivan, Brigid M. Regan, Saul A. Mullen, Katherine B. Howell, Leanne M. Dibbens, Heather C Mefford, Ingrid E. Scheffer, Richard J. Leventer, Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, Leventer, RJ, Harvey, AS, Mullen, SA, Berkovic, SF, Sullivan, J, Scheffer, IE, and Mefford, HC

Subjects
familial focal epilepsy, epileptic spasms, Bioinformatics, DEPDC5 mutations, Article, 03 medical and health sciences, Epilepsy, spasms, 0302 clinical medicine, medicine, Family history, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, Cortical dysplasia, medicine.disease, NPRL3, DEPDC5, 3. Good health, Epileptic spasms, Clinical research, Cohort, epilepsy, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

usc Refereed/Peer-reviewed Objective: To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms. Methods: We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants. Results: We identified 3 patients with variants in DEPDC5 in the cohort of 130 patients with spasms. We also describe 3 additional patients with DEPDC5 alterations and epileptic spasms: 2 from a previously described family and a third ascertained by clinical testing. Overall, we describe 6 patients from 5 families with spasms and DEPDC5 variants; 2 arose de novo and 3 were familial. Two individuals had focal cortical dysplasia. Clinical outcome was highly variable. Conclusions: While recent molecular findings in epileptic spasms emphasize the contribution of de novo mutations, we highlight the relevance of inherited mutations in the setting of a family history of focal epilepsies. We also illustrate the utility of clinical diagnostic testing and detailed phenotypic evaluation in characterizing the constellation of phenotypes associated with DEPDC5 alterations. We expand this phenotypic spectrum to include epileptic spasms, aligning DEPDC5 epilepsies more with the recognized features of other mTORopathies.

Published
2015

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