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An Update on Diagnosis and Pharmacologic Therapy for Headache in the Oral and Maxillofacial Surgery Practice.

Leslie R Halpern, Paul Gammal, David R Adams,

Headaches are synonymous with neurovascular pain (cephalalgias), which comprise a heterogeneous group of pain disorders that share a common anatomic region (head and neck). Headaches are often a "universal" disease presentation that is evaluated by the oral and maxillofacial surgeon. Pharmacologic therapy of headaches is most often based on the ... Read more >>

Oral Maxillofac Surg Clin North Am (Oral and maxillofacial surgery clinics of North America)
[2022, 34(1):83-97]

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Ulcerated Melanoma: Systems Biology Evidence of Inflammatory Imbalance Toward Pro-tumorigenicity.

John Davies, Sathya Muralidhar, Juliette Randerson-Moor, Mark Harland, Sally O'Shea, Joey Diaz, Christy Walker, Jérémie Nsengimana, Jon Laye, Tracey Mell, May Chan, Lizzie Appleton, Sofia Birkeälv, David J Adams, Graham P Cook, Graham Ball, D Timothy Bishop, Julia A Newton-Bishop,

Microscopic ulceration is an independent predictor of melanoma death. Here we used systems biology to query the role of host and tumor specific processes in defining the phenotype. Measures of systemic inflammation were predictive of fewer tumor infiltrating lymphocytes and poorer survival. Ulcerated melanomas were thicker and more mitotically active ... Read more >>

Pigment Cell Melanoma Res (Pigment cell & melanoma research)
[2021, :]

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L Ladda, Susan L Sell, Catherine B Nowak, Jessica Douglas, Cuixia Tian, Elizabeth Ulm, Seth Perlman, Arlene V Drack, Karen Chong, Nicole Martin, Jennifer Brault, Elly Brokamp, Camilo Toro, William A Gahl, Ellen F Macnamara, Lynne Wolfe, , Quinten Waisfisz, Petra J G Zwijnenburg, Alban Ziegler, Magalie Barth, Rosemarie Smith, Sara Ellingwood, Deborah Gaebler-Spira, Somayeh Bakhtiari, Michael C Kruer, Antoine H C van Kampen, Ronald J A Wanders, Hans R Waterham, David Cassiman, Frédéric M Vaz,

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(12):2467]

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The Association of Socio-Economic Factors with Outcomes for Coronary Artery Bypass Surgery.

Edward L Hannan, Yifeng Wu, Kimberly Cozzens, Marcus Friedrich, Joanna Chikwe, David H Adams, Thoralf M Sundt, Leonard Girardi, Craig R Smith, Stephen J Lahey, Jeffrey P Gold, Andrew Wechsler,

<h4>Background</h4>Numerous studies have identified the associations of socio-economic factors with outcomes of cardiac procedures. The majority have focused on easily measured factors like sex, race, and insurance status, or on socio-economic characteristics of patients' 5-digit zip codes. The impact of more granular census-derived socio-economic information on outcomes has rarely been ... Read more >>

Ann Thorac Surg (The Annals of thoracic surgery)
[2021, :]

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The Effects of 6 Weeks of Tribulus terrestris L. Supplementation on Body Composition, Hormonal Response, Perceived Exertion, and CrossFit® Performance: A Randomized, Single-Blind, Placebo-Controlled Study.

Diego Fernández-Lázaro, Juan Mielgo-Ayuso, Miguel Del Valle Soto, David P Adams, Jerónimo J González-Bernal, Jesús Seco-Calvo,

<i>Tribulus terrestris</i> L. (<i>TT</i>) supplementation have been shown to enhance sports performance in many but not all studies. Moreover, data regarding the potential impact of <i>TT</i> supplementation on CrossFit<sup>®</sup> endurance is limited. This study aimed to determine whether <i>TT</i> supplementation improve body composition, hormonal response, and performance among CrossFit<sup>®</sup> athletes. ... Read more >>

Nutrients (Nutrients)
[2021, 13(11):]

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ɑO-Conotoxin GeXIVA isomers modulate N-type calcium (CaV 2.2) channels and inwardly-rectifying potassium (GIRK) channels via GABAB receptor activation.

Arsalan Yousuf, Xiaosa Wu, Anuja R Bony, Mahsa Sadeghi, Yen-Hua Huang, David J Craik, David J Adams,

αO-Conotoxin GeXIVA is a 28 amino acid peptide derived from the venom of the marine snail Conus generalis. The presence of four cysteine residues in the structure of GeXIVA allows it to have three different disulfide isomers, that is, the globular, ribbon or bead isomer. All three isomers are active ... Read more >>

J Neurochem (Journal of neurochemistry)
[2021, :]

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Variant Library Annotation Tool (VaLiAnT): an oligonucleotide library design and annotation tool for Saturation Genome Editing and other Deep Mutational Scanning experiments.

Luca Barbon, Victoria Offord, Elizabeth J Radford, Adam P Butler, Sebastian S Gerety, David J Adams, Hong Kee Tan, Andrew J Waters,

<h4>Motivation</h4>CRISPR/Cas9-based technology allows for the functional analysis of genetic variants at single nucleotide resolution whilst maintaining genomic context (Findlay et al., 2018). This approach, known as saturation genome editing (SGE), a form of deep mutational scanning (DMS), systematically alters each position in a target region to explore its function. SGE ... Read more >>

Bioinformatics (Bioinformatics (Oxford, England))
[2021, :]

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FOXR1 regulates stress response pathways and is necessary for proper brain development.

Andressa Mota, Hannah K Waxman, Rui Hong, Gavin D Lagani, Sheng-Yong Niu, Féodora L Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C Markello, David R Adams, William A Gahl, Christine S Cheng, Uwe Beffert, Angela Ho,

The forkhead box (Fox) family of transcription factors are highly conserved and play essential roles in a wide range of cellular and developmental processes. We report an individual with severe neurological symptoms including postnatal microcephaly, progressive brain atrophy and global developmental delay associated with a de novo missense variant (M280L) ... Read more >>

PLoS Genet (PLoS genetics)
[2021, 17(11):e1009854]

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Corrigendum to: Safety of ixekizumab in adult patients with plaque psoriasis, psoriatic arthritis and axial spondyloarthritis: data from 21 clinical trials.

Mark C Genovese, Eduardo Mysler, Tetsuya Tomita, Kim A Papp, Carlo Salvarani, Sergio Schwartzman, Gaia Gallo, Himanshu Patel, Jeffrey R Lisse, Andris Kronbergs, Soyi Liu Leage, David H Adams, Wen Xu, Helena Marzo-Ortega, Mark G Lebwohl,

Rheumatology (Oxford) (Rheumatology (Oxford, England))
[2021, 60(11):5485]

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Thirty-Day Outcomes Following Transfemoral Transseptal Transcatheter Mitral Valve Replacement: Intrepid TMVR Early Feasibility Study Results.

Firas Zahr, Howard K Song, Scott M Chadderdon, Hemal Gada, Mubashir Mumtaz, Timothy Byrne, Merick Kirshner, Tanvir Bajwa, Eric Weiss, Susheel Kodali, Isaac George, John Heiser, William M Merhi, Jeremy J Thaden, Angie Zhang, D Scott Lim, Michael J Reardon, David H Adams, Michael J Mack, Martin B Leon,

<h4>Objectives</h4>To evaluate outcomes of transcatheter mitral valve replacement (TMVR) with transfemoral access in patients at prohibitive or high surgical risk.<h4>Background</h4>Prohibitive surgical risk may preclude MVR surgery in some patients. The investigational Intrepid TMVR system (Medtronic, Minneapolis, MN) has previously been evaluated using transapical access for delivery of a self-expanding bioprosthetic ... Read more >>

JACC Cardiovasc Interv (JACC. Cardiovascular interventions)
[2021, :]

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Temporal Trends of Wild-Type Transthyretin Amyloid Cardiomyopathy in the Transthyretin Amyloidosis Outcomes Survey.

Jose Nativi-Nicolau, Alfonso Siu, Angela Dispenzieri, Mathew S Maurer, Claudio Rapezzi, Arnt V Kristen, Pablo Garcia-Pavia, Samantha LoRusso, Márcia Waddington-Cruz, Olivier Lairez, Ronald Witteles, Doug Chapman, Leslie Amass, Martha Grogan, ,

<h4>Background</h4>Transthyretin amyloid cardiomyopathy results from the accumulation of wild-type (ATTRwt) or variant (ATTRv) transthyretin amyloid fibrils in the myocardium. THAOS (Transthyretin Amyloidosis Outcomes Survey) is a global, longitudinal, observational survey of patients with ATTRv and ATTRwt amyloidosis and asymptomatic patients with transthyretin mutations.<h4>Objectives</h4>This study explored temporal trends in ATTRwt amyloidosis ... Read more >>

JACC CardioOncol (JACC. CardioOncology)
[2021, 3(4):537-546]

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Impact of Optimal Timing of Intake of Multi-Ingredient Performance Supplements on Sports Performance, Muscular Damage, and Hormonal Behavior across a Ten-Week Training Camp in Elite Cyclists: A Randomized Clinical Trial.

Diego Fernández-Lázaro, Juan Mielgo-Ayuso, Miguel Del Valle Soto, David P Adams, Eduardo Gutiérrez-Abejón, Jesús Seco-Calvo,

Multi-ingredient performance supplements (MIPS), ingested pre- or post-workout, have been shown to increase physiological level effects and integrated metabolic response on exercise. The purpose of this study was to determine the efficacy of pre-and post-training supplementation with its own MIPS, associated with CHO (1 g·kg<sup>-1</sup>) plus protein (0.3 g·kg<sup>-1</sup>) on ... Read more >>

Nutrients (Nutrients)
[2021, 13(11):]

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Finding Yourself Through Volunteering.

David Adams,

J Am Soc Echocardiogr (Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography)
[2021, 34(11):A11-A12]

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A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.

Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian,

<h4>Background</h4>Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):450]

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Ethanol-induced formation of colorectal tumours and precursors in a mouse model of Lynch syndrome.

Guia Cerretelli, Ying Zhou, Mike F Müller, David J Adams, Mark J Arends,

Lynch syndrome (LS) confers inherited cancer predisposition due to germline mutations in a DNA mismatch repair (MMR) gene, e.g. MSH2. MMR is a repair pathway for removal of base mismatches and insertion/deletion loops caused by endogenous and exogenous factors. Loss of MMR through somatic alteration of the wild-type allele in ... Read more >>

J Pathol (The Journal of pathology)
[2021, 255(4):464-474]

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Mitral Annular Disjunction: A Contrary View.

Dimosthenis Pandis, Anelechi C Anyanwu, David H Adams,

J Am Soc Echocardiogr (Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography)
[2021, :]

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Combined presentation and immunogenicity analysis reveals a recurrent RAS.Q61K neoantigen in melanoma.

Aviyah Peri, Erez Greenstein, Michal Alon, Joy A Pai, Tamir Dingjan, Shlomit Reich-Zeliger, Eilon Barnea, Chaya Barbolin, Ronen Levy, Claudia Arnedo-Pac, Shelly Kalaora, Bareket Dassa, Ester Feldmesser, Ping Shang, Polina Greenberg, Yishai Levin, Gil Benedek, Mitchell P Levesque, David J Adams, Michal Lotem, James S Wilmott, Richard A Scolyer, Göran B Jönsson, Arie Admon, Steven A Rosenberg, Cyrille J Cohen, Masha Y Niv, Nuria Lopez-Bigas, Ansuman T Satpathy, Nir Friedman, Yardena Samuels,

Neoantigens are now recognized drivers of the antitumor immune response. Recurrent neoantigens, shared among groups of patients, have thus become increasingly coveted therapeutic targets. Here, we report on the data-driven identification of a robustly presented, immunogenic neoantigen that is derived from the combination of HLA-A*01:01 and RAS.Q61K. Analysis of large ... Read more >>

J Clin Invest (The Journal of clinical investigation)
[2021, 131(20):]

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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O'Leary, Emily O'Heir, Estibaliz Barredo, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schlüter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marcé-Grau, Precilla de Souza, David R Adams, Carlos Casasnovas, Heidi L Rehm, Heather C Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol,

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly ... Read more >>

Brain (Brain : a journal of neurology)
[2021, 144(9):2659-2669]

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Conventional versus modified delivery system technique in commissural alignment from the Evolut low-risk CT substudy.

Gilbert H L Tang, Aditya Sengupta, Sophia L Alexis, Syed Zaid, Jonathan A Leipsic, Philipp Blanke, Kendra J Grubb, Hemal Gada, Steven J Yakubov, Toby Rogers, Stamatios Lerakis, Sahil Khera, David H Adams, Samin K Sharma, Annapoorna Kini, Michael J Reardon,

<h4>Objectives</h4>We assessed the impact of conventional delivery system (DS) insertion technique on "Hat-marker" orientation/commissural alignment in patients who underwent transcatheter aortic valve replacement (TAVR) in the Evolut Low Risk Trial CT substudy versus a modified technique.<h4>Background</h4>Unlike surgical aortic valve replacement, where alignment of the surgical valve commissures with native commissures ... Read more >>

Catheter Cardiovasc Interv (Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions)
[2021, :]

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μ-Theraphotoxin-Pn3a inhibition of CaV3.3 channels reveals a novel isoform-selective drug binding site

Jeffrey McArthur, Jierong Wen, Andrew Hung, Rocio Finol-Urdaneta, David Adams,

Low voltage-activated calcium currents are mediated by T-type calcium channels Ca V 3.1, Ca V 3.2, and Ca V 3.3, which modulate a variety of physiological processes including sleep, cardiac pace-making, pain, and epilepsy. Ca V 3 isoforms’ biophysical properties, overlapping expression and lack of subtype-selective pharmacology hinder the determination ... Read more >>

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A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.

Shahram Attarian, Peter Young, Thomas H Brannagan, David Adams, Philip Van Damme, Florian P Thomas, Carlos Casanovas, Céline Tard, Maggie C Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M Statland, Kevin Felice,

<h4>Background</h4>Charcot-Marie-Tooth disease type 1A (CMT1A) is a rare, orphan, hereditary neuromuscular disorder with no cure and for which only symptomatic treatment is currently available. A previous phase 2 trial has shown preliminary evidence of efficacy for PXT3003 in treating CMT1A. This phase 3, international, randomized, double-blind, placebo-controlled study further investigated ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):433]

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Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression.

David Adams, Vincent Algalarrondo, Michael Polydefkis, Nitasha Sarswat, Michel S Slama, Jose Nativi-Nicolau,

<h4>Background</h4>Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, leading to disability and death. The recent approval of disease-modifying therapies offers the hope of stabilization or eventual reversal of disease progression, and yet ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):411]

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The production of 4,182 mouse lines identifies experimental and biological variables impacting Cas9-mediated mutant mouse line production

Hillary Elrick, Kevin Peterson, Joshua Wood, Denise Lanza, Elif Acar, Lydia Teboul, Edward Ryder, Shinya Ayabe, Marie-Christine Birling, Adam Caulder, Francesco Chiani, Gemma Codner, Brendan Doe, Graham Duddy, Alessia Gambadoro, Marina Gertsenstein, Alba Gomez-Segura, Leslie Goodwin, Cunxiang Ju, Petr Kasparek, Ruairidh King, Daekee Lee, Ho Lee, Lauri Lintott, Zhiwei Liu, Isabel Lorenzo, Matthew Mackenzie, Susan Marschall, Peter Matthews, Mark Ruhe, Luis Santos, John Seavitt, Claudia Seisenberger, Hannah Wardle-Jones, Brandon Willis, Jie Zhang, Jing Zhao, Fei Zhou, David Adams, Allan Bradley, Robert Braun, Francesco DeMayo, Mary Dickinson, Xiang Gao, Yann Hérault, Martin Hrabĕ de Angelis, Kent Lloyd, Ann-Marie Mallon, Fabio Mammano, Colin McKerlie, Terrence Meehan, Helen Parkinson, Ramiro Ramirez-Solis, Radislav Sedlacek, Je Kyung Seong, William Skarnes, Damien Smedley, Masaru Tamura, Sara Wells, Jacqueline White, Wolfgang Wurst, Atsushi Yoshiki, Stephen Murray, Jason Heaney, Lauryl Nutter, ,

The International Mouse Phenotyping Consortium (IMPC) is generating and phenotyping null mutations for every protein-coding gene in the mouse 1,2 . The IMPC now uses Cas9, a programmable RNA-guided nuclease that has revolutionized mouse genome editing 3 and increased capacity and flexibility to efficiently generate null alleles in the C57BL/6N ... Read more >>

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Analgesic α-conotoxins modulate native and recombinant GIRK1/2 channels via activation of GABAB receptors and reduce neuroexcitability.

Anuja R Bony, Jeffrey R McArthur, Rocio K Finol-Urdaneta, David J Adams,

<h4>Background and purpose</h4>Activation of GIRK channels via G protein-coupled GABA<sub>B</sub> receptors has been shown to attenuate nociceptive transmission. The analgesic α-conotoxin Vc1.1 activates GABA<sub>B</sub> receptors resulting in inhibition of Ca<sub>v</sub> 2.2 and Ca<sub>v</sub> 2.3 channels in mammalian primary afferent neurons. Here, we investigated the effects of analgesic α-conotoxins on recombinant ... Read more >>

Br J Pharmacol (British journal of pharmacology)
[2021, :]

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Neurological complications induced by immune checkpoint inhibitors: a comprehensive descriptive case-series unravelling high risk of long-term sequelae.

Léo Plaçais, Jean-Marie Michot, Stéphane Champiat, Patricia Romano-Martin, Capucine Baldini, Maria Silva Joao, Aurélien Marabelle, Anne-Laure Voisin, Adeline Not, Céline Labeyrie, Guillemette Beaudonnet, Ariane Laparra, Alexandre T J Maria, Agathe Masseau, Stéphanie Dehette, Amélie Deleporte, Andoni Echaniz-Laguna, Christian Denier, David Adams, Olivier Lambotte, Nicolas Noel, Cécile Cauquil,

Neurological immune-related adverse events are complications of programmed-cell death 1 or programmed-cell death 1 ligand immunotherapies that can be life threatening and often lead to anticancer immunotherapy withdrawal. Scant clinical data are available that integrate the clinical presentation, therapeutic management and long-term outcome. All consecutive adult patients treated by programmed-cell ... Read more >>

Brain Commun (Brain communications)
[2021, 3(4):fcab220]

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