52 research outputs found
High prevalence of NMDA receptor IgA/IgM antibodies in different dementia types
- Author
- Biswal Bharat B
- Bittner Daniel
- Buchert Ralph
- Dalmau Josep
- Dickerson Bradford
- Dirnagl Ulrich
- Doss Sarah
- Endres Matthias
- Finke Carsten
- Harms Lutz
- Hyman Bradley T
- Höglinger GĂŒnther U
- Höltje Markus
- Ivinson Adrian J
- Jahn Holger
- Komorowski Lars
- Körtvélyessy Peter
- Lynch David R
- Meisel Andreas
- Mollenhauer Brit
- MĂŒller Vom Hagen Jennifer
- Oertel Wolfgang H
- Panzer Jessica A
- Paul Friedemann
- Priller Josef
- Probst Christian
- PrĂŒss Harald
- Ruprecht Klemens
- Scherzer Clemens R
- Schöls Ludger
- Spruth Eike J
- Stöcker Winfried
- Synofzik Matthis
- Teegen Bianca
- Trenkwalder Claudia
- Unger Marcus M
- Wandinger Klaus-Peter
- Publication venue
- 'Wiley'
- Publication date
- 01/10/2014
- Field of study
OBJECTIVE: To retrospectively determine the frequency of N-Methyl-D-Aspartate (NMDA) receptor (NMDAR) autoantibodies in patients with different forms of dementia. METHODS: Clinical characterization of 660 patients with dementia, neurodegenerative disease without dementia, other neurological disorders and age-matched healthy controls combined with retrospective analysis of serum or cerebrospinal fluid (CSF) for the presence of NMDAR antibodies. Antibody binding to receptor mutants and the effect of immunotherapy were determined in a subgroup of patients. RESULTS: Serum NMDAR antibodies of IgM, IgA, or IgG subtypes were detected in 16.1% of 286 dementia patients (9.5% IgM, 4.9% IgA, and 1.7% IgG) and in 2.8% of 217 cognitively healthy controls (1.9% IgM and 0.9% IgA). Antibodies were rarely found in CSF. The highest prevalence of serum antibodies was detected in patients with âunclassified dementiaâ followed by progressive supranuclear palsy, corticobasal syndrome, Parkinsonâs disease-related dementia, and primary progressive aphasia. Among the unclassified dementia group, 60% of 20 patients had NMDAR antibodies, accompanied by higher frequency of CSF abnormalities, and subacute or fluctuating disease progression. Immunotherapy in selected prospective cases resulted in clinical stabilization, loss of antibodies, and improvement of functional imaging parameters. Epitope mapping showed varied determinants in patients with NMDAR IgA-associated cognitive decline. INTERPRETATION: Serum IgA/IgM NMDAR antibodies occur in a significant number of patients with dementia. Whether these antibodies result from or contribute to the neurodegenerative disorder remains unknown, but our findings reveal a subgroup of patients with high antibody levels who can potentially benefit from immunotherapy
Glucocorticoids in the Treatment of Children with Acute Lymphoblastic Leukemia and Hodgkin's Disease: A Pilot Study on the Adverse Psychological Reactions and Possible Associations with Neurobiological, Endocrine, and Genetic Markers
- Author
- Publication venue
- 'American Association for Cancer Research (AACR)'
- Publication date
- Field of study
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- Author
- Adzhubey Ivan
- Agrawal Saloni
- Albertyn Zayed
- Alexander Austin C.
- Alexeyenko Andrey
- Ament Seth A.
- Andorf Janeen L.
- Azaiez Hela
- Bai Yu
- Bair Thomas
- Bakker Paul IW de
- Barrera MartĂnez Jorge de la
- Bassuk Alexander G.
- Beggs Alan H.
- Biskup Saskia
- Black-Ziegelbein E. Ann
- Blair Kathryn
- Bon Bregje van
- Booth Kevin
- Bossler Aaron
- Boycott Kym M.
- Braun Martin
- Braun Terry A.
- Bray Bruce E.
- Brownstein Catherine A.
- Bulman Dennis E.
- Caballero Juan
- Campbell Colleen A.
- Cargill Michele
- Cariaso Michael
- Caskey C. Thomas
- Cassa Christopher A.
- Chen Mengjie
- Chen Xiaowei
- Corsmeier Donald
- Cox Hannah C.
- Daele Douglas Van
- Darbro Benjamin
- DeChene Elizabeth T.
- DeLuca Adam P.
- Deng Mario
- Duzkale Hatice
- Dworzyñski Piotr
- Edens Erik
- Eilbeck Karen
- Fairbrother William
- Fang Fang
- Finkel Richard S.
- Fitzgerald-Butt Sara
- Flannery Katherine C.
- Francioli Laurent
- Freisinger Peter
- Friedman Eitan
- Funke Birgit H.
- GarcĂa Lobo Juan MarĂa
- Gilissen Christian
- Giovanni Monica A.
- Glusman Gustavo
- Gonzalez Garay Manuel L.
- Gonzålez-Lamuño Leguina Domingo
- Gordon Paul M.K.
- Gugenmus Claudia
- Gunel Murat
- Hahn Alexander
- Halperin Eran
- Handsaker Robert E.
- Hart Reece K.
- Herman Gail
- Heusel Jonathan W.
- Hoischen Alexander
- Holm Ingrid A.
- Homer Nils
- Hou Lin
- Huang Jian
- Huang Ying
- Huss Mikael
- Innes A Micheil
- Isakov Ofer
- Javed Asif
- Kiruluta Edward
- Klocke Bernward
- Knoppers Bartha M.
- Kohane Isaac S.
- Kolbe Diana L.
- Kong Yong
- Krishna Shuba
- Kural Deniz
- Kwitek Anne
- Lage Kasper
- Lamb-Thrush Devon
- Lebo Matthew S.
- Lek Monkol
- Lennon Greg G.
- Leshchiner Ignaty
- Li Cong
- Li Peining
- Lindvall Jessica M.
- Llorca DĂaz Francisco Javier
- Lovrecic Luca
- Lucas F. Anthony San
- Luquette Lovelace J.
- Lyon Elaine
- Lyon Gholson J.
- MacArthur Daniel G.
- Maga Tara
- Magnusson Mans
- Majewski Jacek
- Majzoub Joseph
- Margulies David M.
- Marshall Christian R.
- Mathews Katherine
- Mauldin Denise
- Maver Ales
- McBride Kim L.
- McCallie David Jr.
- McLaughlin Heather M.
- Medne Livija
- Mendelsohn Nancy J.
- Menzel Mortiz
- Merriman Barry
- Meyer Nic
- Moore Barry M.
- Moore Steven A.
- Murray Michael F.
- Nelen Marcel
- Neupert Peter
- Newsom David
- Ng Pauline C.
- Nilsson Daniel
- Palandacic Anja
- Panzer Karin
- Parboosingh Jillian S.
- Perner Sven
- Pers Tune H.
- Peterlin Borut
- Pierson Christopher R.
- Polak Paz P.
- Price Emily N.
- Rakowsky Alexander T.
- Raychaudhuri Soumya
- Reese Martin G.
- Rehm Heidi L.
- Richards Daniel R.
- Roach Jared C.
- RodrĂguez GonzĂĄlez MarĂa Cruz
- Rowen Lee
- Ryckman Kelli
- Sager Jason
- Samuels Mark E.
- Sandhu Komal S.
- Savage Sarah K.
- Sawyer Sarah L.
- Scheetz Todd E.
- Schubach Max
- Schwartzentruber Jeremy
- Segal Michael M.
- Shchelochkov Oleg A.
- Shearer Aiden E.
- Sheffield Val C.
- Shomron Noam
- Smith Richard J.H.
- Soemedi Rachel
- Sompallae Rama
- Sorenson Jon M.
- Stevenson David A.
- Stitziel Nathan O.
- Stone Edwin M.
- Stranneheim Henrik
- Sunyaev Shamil R.
- Supper Jochen
- Szolovits Peter
- Taylan Fulya
- Temme Renee
- Torkamani Ali
- Towne Meghan C.
- Trapane Pamela
- Tromp Gerard
- Varela Egocheaga Ignacio
- Veeramachaneni Vamsi
- Vega Francisco M. de la
- Vestecka Sara
- Wang Kai
- Wang Zhengyuan
- Wassink Thomas
- Wedell Anna
- White Peter
- Willard Huntington F.
- Williams Marc S.
- Yan Xiting
- Yandell Mark
- Yang Can
- Yntema Helger
- Yu Timothy W.
- Yum Sabrina W.
- Zhang Lu
- Zhang Weidong
- Zhang Yan
- Zhao Hongyu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2014
- Field of study
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance.
RESULTS:
A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization.
CONCLUSIONS:
The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis
- Author
- Amoroso Antonio
- Berthoux Francois
- Boland Anne
- Chen Nan
- Choi Murim
- Cusi Daniele
- Eitner Frank
- Floege Juergen
- Gesualdo Loreto
- Gharavi Ali G.
- Gigante Maddalena
- Goto Shin
- Hou Ping
- Izzi Claudia
- Jager Kitty J.
- Julian Bruce A.
- Karnib Hussein H.
- Kiryluk Krzysztof
- Kristiansson Kati
- Li Yifu
- Lifton Richard P.
- Magnusson Patrik K.
- Maixnerova Dita
- Metzger Marie
- Mucha Krzysztof
- Nagy Judit
- Narita Ichiei
- Novak Jan
- Panzer Ulf
- Perola Markus
- Rohanizadegan Mersedeh
- Sanna-Cherchi Simone
- Savoldi Silvana
- Scolari Francesco
- Snyder Holly J.
- Stefansson Kari
- Stengel Benedicte
- Suzuki Hitoshi
- Tesar Vladimir
- Thibaudin Lise
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Viktorin Alexander
- Wanner Christoph
- Wyatt Robert J.
- Xie Jingyuan
- Zamboli Pasquale
- Zhang Hong
- Publication venue
- Publication date
- 01/01/2012
- Field of study
Peer reviewe
Search for eccentric black hole coalescences during the third observing run of LIGO and Virgo
- Author
- Abac A. G.
- Abbott R.
- Abe H.
- Acernese F.
- Ackley Kendall
- Adamcewicz C.
- Adhicary S.
- Adhikari Naresh
- Adhikari Rana X.
- Adkins V. K.
- Adya V. B.
- Affeldt C.
- Afif Ismail M.
- Agarwal D.
- Agathos Michalis
- Aguiar Odylio D.
- Aguilar I.
- Aiello Lorenzo
- Ain Anirban
- Ajith Parameswaran
- Akseli Hannuksela Otto
- Akutsu Tomotada
- Al-Jodah Ammar
- Albanesi S.
- Alberto Trani Alessandro
- Alfaidi Reem Atallah E
- Allocca Annalisa
- Alléné C.
- Almualla M.
- Altin Paul
- Amato Alex
- Amez-Droz L.
- Amorosi A.
- Anand S.
- Ananyeva A.
- Andersen R.
- Anderson Stuart
- Anderson Warren G.
- Andia Manuel
- Ando M.
- Andrade T.
- Andrea Prodi Giovanni
- Andres Nicolas
- Andric Tomislav
- Andrés-Carcasona Marc
- Anne Bizouard Marie
- Ansoldi S.
- Antelis Javier M.
- Antier Sarah
- Antonio Font Roda Jose
- Aoumi M.
- Apostolatos T.
- Appavuravther E. Z.
- Appert S.
- Apple S. K.
- Arai Koji
- Araya Akito
- Araya Melody
- Areeda Joseph
- Arif Shaikh Md
- Aritomi Naoki
- Armato F.
- Arnaud Nicolas
- Arogeti Megan
- Aronson Scott
- Arun K. G.
- Ashton Gregory
- Aso Yoichi
- Assiduo M.
- Aston S. M.
- Astone Pia
- Aubin Florian
- Babak Stanislav
- Badalyan A.
- Badaracco Francesca
- Badger C.
- Bae Sangwook
- Bagnasco Stefano
- Bai Y.
- Baier Jeremy
- Bajpai Rishabh
- Baka T.
- Ball M.
- Ballardin G.
- Ballmer S. W.
- Baltus Grégory
- Banagiri Sharan
- Banerjee Biswajit
- Bankar Deepak
- Baral Pratyusava
- Barayoga J. C.
- Barber J.
- Barish B. C.
- Barker D.
- Barneo Pablo
- Barone Fabrizio
- Barr Bryan
- Barsotti Lisa
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- Barta DĂĄniel
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- Barton Mark Andrew
- Bartos I.
- Basak Soummyadip
- Basalaev Artem
- Bassiri Riccardo
- Basti Andrea
- Bawaj Mateusz
- Baxi P.
- Bayley Joseph
- Baylor Amanda
- Bazzan M.
- Bedakihale V. M.
- Beirnaert Freija
- Bejger MichaĆ
- Bell Angus
- Benedetto V.
- Beniwal D.
- Benoit William
- Bentley Joe
- Bera Sayantani
- Berbel Marina
- Bergamin Fabio
- Berger Beverly
- Bernuzzi Sebastiano
- Beroiz Martin
- Berry Christopher P. L.
- Bersanetti Diego
- Bertolini A.
- Betzwieser Joseph
- Beveridge Damon
- Bevins Nathaniel
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- Bhattacharjee Dripta
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- Bianchi A.
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- Blackburn Kent
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- Vermeulen Sander M.
- Veske DoÄa
- Vetrano F.
- Veutro A.
- Viceré Andrea
- Vidyant S.
- Viets Aaron
- Vijaykumar Aditya
- Villa-Ortega VerĂłnica
- Vincent Erin
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- VIRGO Collaboration
- Virtuoso Andrea
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- Wysocki Daniel
- Xiao Liting
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- Yakovlev Alexey
- Yamamoto Hiroaki
- Yamamoto Kazuhiro
- Yamamoto M.
- Yamamoto Takahiro
- Yamamoto Takahiro S.
- Yamamura S.
- Yamazaki Ryo
- Yan S.
- Yang Fengwei
- Yang Kate Z.
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- Yang Y. -C.
- Yang Yang
- Yang Yi
- Yap M. J.
- Yarbrough Zach
- Yeh S. -W.
- Yelikar A. B.
- Yeung S. M. C.
- Yeung T. Y.
- Yokoyama Jun'ichi
- Yokozawa T.
- Yoo Jooheon
- Yu Hang
- Yuzurihara Hirotaka
- ZadroĆŒny A.
- Zahoor Jan Aasim
- Zannelli A. J.
- Zanolin M.
- Zeeshan M.
- Zelenova T.
- Zendri J. -P.
- Zevin Michael
- Zhang Jue
- Zhang L.
- Zhang Rui
- Zhang T.
- Zhang Ya
- Zhang Yanqi
- Zhao C.
- Zhao Yue
- Zhao Yuhang
- Zheng Yanyan
- Zhong Haowen
- Zhou R.
- Zhu Zong-Hong
- Zimmerman Aaron
- Zucker M. E.
- Zweizig John
- Ălvarez-LĂłpez S.
- ĂrpĂĄd Gergely LĂĄszlĂł
- ć ćæŹœ
- æčćšéź
- éœäžž éèĄ
- Publication venue
- Publication date
- 01/08/2023
- Field of study
Despite the growing number of confident binary black hole coalescences observed through gravitational waves so far, the astrophysical origin of these binaries remains uncertain. Orbital eccentricity is one of the clearest tracers of binary formation channels. Identifying binary eccentricity, however, remains challenging due to the limited availability of gravitational waveforms that include effects of eccentricity. Here, we present observational results for a waveform-independent search sensitive to eccentric black hole coalescences, covering the third observing run (O3) of the LIGO and Virgo detectors. We identified no new high-significance candidates beyond those that were already identified with searches focusing on quasi-circular binaries. We determine the sensitivity of our search to high-mass (total mass M>70 Mâ) binaries covering eccentricities up to 0.3 at 15 Hz orbital frequency, and use this to compare model predictions to search results. Assuming all detections are indeed quasi-circular, for our fiducial population model, we place an upper limit for the merger rate density of high-mass binaries with eccentricities 0<eâ€0.3 at 0.33 Gpcâ3 yrâ1 at 90\% confidence level
Ultralight vector dark matter search using data from the KAGRA O3GK run
- Author
- Abac A. G.
- Abbott R.
- Abe H.
- Abouelfettouh I.
- Acernese F.
- Ackley Kendall
- Adamcewicz Christian
- Adhicary S.
- Adhikari Naresh
- Adhikari Rana X.
- Adkins V. K.
- Adya V. B.
- Affeldt C.
- Afif Ismail M.
- Agarwal Deepali
- Agathos Michalis
- Aguiar Odylio D.
- Aguilar I.
- Aiello Lorenzo
- Ain Anirban
- Ajith Parameswaran
- Akseli Hannuksela Otto
- Akutsu Tomotada
- Al-Jodah Ammar
- Al-Shammari S.
- Albanesi S.
- Alberto Trani Alessandro
- Alfaidi Reem Atallah E
- Allocca Annalisa
- Alléné C.
- Altin Paul
- Alvarez-Lopez Sofia
- Amato Alex
- Amez-Droz L.
- Amorosi A.
- Amra C.
- Anand S.
- Ananyeva A.
- Anderson Stuart
- Anderson Warren G.
- Andia Manuel
- Ando M.
- Andrade T.
- Andrea Prodi Giovanni
- Andres Nicolas
- Andric Tomislav
- Andrés-Carcasona Marc
- Anglin J.
- Anne Bizouard Marie
- Ansoldi S.
- Antelis Javier M.
- Antier Sarah
- Antoni Ramis Vidal Felip
- Antonietta Palaia Maria
- Antonio Font Roda Jose
- Aoumi M.
- Appavuravther E. Z.
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- Arai Koji
- Araya Akito
- Araya Melody
- Areeda Joseph
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- Armato F.
- Arnaud Nicolas
- Arogeti Megan
- Aronson Scott
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- ĂrpĂĄd Gergely LĂĄszlĂł
- ć ćæŹœ
- æčćšéź
- éœäžž éèĄ
- Publication venue
- Publication date
- 01/03/2024
- Field of study
Among the various candidates for dark matter (DM), ultralight vector DM can be probed by laser interferometric gravitational wave detectors through the measurement of oscillating length changes in the arm cavities. In this context, KAGRA has a unique feature due to differing compositions of its mirrors, enhancing the signal of vector DM in the length change in the auxiliary channels. Here we present the result of a search for U(1)BâL gauge boson DM using the KAGRA data from auxiliary length channels during the first joint observation run together with GEO600. By applying our search pipeline, which takes into account the stochastic nature of ultralight DM, upper bounds on the coupling strength between the U(1)BâL gauge boson and ordinary matter are obtained for a range of DM masses. While our constraints are less stringent than those derived from previous experiments, this study demonstrates the applicability of our method to the lower-mass vector DM search, which is made difficult in this measurement by the short observation time compared to the auto-correlation time scale of DM
Authorsâ Response: Rapid Preoperative Preparation for Severe Hyperthyroid Gravesâ Disease
- Publication venue
- 'The Endocrine Society'
- Publication date
- Field of study
Rapid Preoperative Preparation for Severe Hyperthyroid Gravesâ Disease
- Publication venue
- 'The Endocrine Society'
- Publication date
- Field of study
Experimentelle Untersuchungen zum Einfluss unterschiedlicher Trainingsbedingungen auf die TransferabilitÀt des motorischen Gleichgewichts
- Publication venue
- Publication date
- 09/05/2020
- Field of study
Experimentelle Untersuchungen zum Einfluss unterschiedlicher Trainingsbedingungen auf die TransferabilitÀt des motorischen Gleichgewichts
- Publication venue
- Publication date
- 09/05/2020
- Field of study
- âŠ