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Maria I Zervou, George N Goulielmos, Michail Matalliotakis, Charoula Matalliotaki, Demetrios A Spandidos, Elias Eliopoulos
Following the publication of the above article on modeling variants of adenosine deaminase 2 (ADA2), previously identified by Gibson et al [Kristen M. Gibson, Kimberly A. Morishita, Paul Dancey, Paul Moorehead, Britt Drögemöller, Xiaohua Han, Jinko Graham, Robert E. W. Hancock, Dirk Foell, Susanne Benseler, Rashid Luqmani, Rae S. M.Yeung, Susan Shenoi, Marek Bohm, Alan M. Rosenberg, Colin J. Ross, David A. Cabral and Kelly L. Brown: Identification of novel adenosine deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis...
July 2021: Molecular Medicine Reports
#22
JOURNAL ARTICLE
Michelle M A Kip, Sytze de Roock, Inge van den Berg, Gillian Currie, Deborah A Marshall, Luiza R Grazziotin, Marinka Twilt, Rae S M Yeung, Susanne M Benseler, Sebastiaan J Vastert, Nico Wulffraat, Joost F Swart, Maarten J IJzerman
OBJECTIVE: This study aims to 1) quantify costs of hospital-associated care for juvenile idiopathic arthritis (JIA), 2) provide insights in patient-level variation in costs, and 3) investigate costs over time from the moment of JIA diagnosis. Results are reported for all JIA patients in general and by subtype. METHODS: This study is a single-center, retrospective analysis of prospective data from electronic medical records of children with JIA, aged 0-18 years between 1 April 2011 and 31 March 2019...
May 2, 2021: Arthritis Care & Research
#23
JOURNAL ARTICLE
Michelle M A Kip, Sytze de Roock, Gillian Currie, Deborah A Marshall, Luiza R Grazziotin, Marinka Twilt, Rae S M Yeung, Susanne M Benseler, Maud A Schreijer, Sebastiaan J Vastert, Nico Wulffraat, Annet van Royen-Kerkhof, Joost F Swart, Maarten J IJzerman
Background : This study aims to quantify medication costs in juvenile idiopathic arthritis (JIA), based on subtype. Research design and methods : This study is a single-center, retrospective analysis of prospective data from electronic medical records of JIA patients, aged 0-18 years between April 1, 2011 and March 31, 2019. Patient characteristics (age, gender, subtype) and medication use were extracted. Medication use and costs were reported as: 1) mean total annual costs; 2) between-patient heterogeneity in these costs; 3) duration of medication use; and, 4) costs over the treatment course...
November 26, 2020: Expert Review of Pharmacoeconomics & Outcomes Research
#24
JOURNAL ARTICLE
Elham Rezaei, Marianna M Newkirk, Zhenhong Li, John R Gordon, Kiem G Oen, Susanne M Benseler, Gilles Boire, David A Cabral, Sarah Campillo, Gaëlle Chédeville, Anne-Laure Chetaille, Paul Dancey, Ciaran Duffy, Karen Watanabe Duffy, Kristin Houghton, Adam M Huber, Roman Jurencak, Bianca Lang, Kimberly A Morishita, Ross E Petty, Suzanne E Ramsey, Johannes Roth, Rayfel Schneider, Rosie Scuccimarri, Lynn Spiegel, Elizabeth Stringer, Shirley M L Tse, Lori B Tucker, Stuart E Turvey, Rae S M Yeung, Alan M Rosenberg
OBJECTIVES: This study aimed to expand knowledge about soluble low-density lipoprotein receptor-related protein 1 (sLRP1) in juvenile idiopathic arthritis (JIA) by determining associations of sLRP1 levels in nonsystemic JIA patients with clinical and inflammatory biomarker indicators of disease activity. METHODS: Plasma sLRP1 and 44 inflammation-related biomarkers were measured at enrollment and 6 months later in a cohort of 96 newly diagnosed Canadian patients with nonsystemic JIA...
May 2021: Journal of Rheumatology
#25
JOURNAL ARTICLE
Claire E H Barber, Diane Lacaille, Peter Faris, Dianne Mosher, Steven Katz, Jatin N Patel, Sharon Zhang, Karen Yee, Cheryl Barnabe, Glen S Hazlewood, Vivian Bykerk, Natalie J Shiff, Marinka Twilt, Jennifer Burt, Susanne M Benseler, Joanne Homik, Deborah A Marshall
OBJECTIVE: We evaluated 4 national rheumatoid arthritis (RA) system-level performance measures (PMs) in Alberta, Canada. METHODS: Incident and prevalent RA cases ≥ 16 years of age since 2002 were identified using a validated case definition applied in provincial administrative data. Performance was ascertained through analysis of health data between fiscal years 2012/13-2015/16. Measures evaluated were: proportion of incident RA cases with a rheumatologist visit within one year of first RA diagnosis code (PM1); proportion of prevalent RA patients dispensed a disease modifying anti-rheumatic drug (DMARD) annually (PM2); time from first visit with an RA code to DMARD dispensation, and proportion of incident cases where the 14-day benchmark for dispensation was met (PM3); and proportion of patients seen in annual follow-up (PM4)...
September 15, 2020: Journal of Rheumatology
#26
JOURNAL ARTICLE
Brandon M Bensel, Michael S Woody, Serapion Pyrpassopoulos, Yale E Goldman, Susan P Gilbert, E Michael Ostap
KIF3AC is a mammalian neuron-specific kinesin-2 implicated in intracellular cargo transport. It is a heterodimer of KIF3A and KIF3C motor polypeptides which have distinct biochemical and motile properties as engineered homodimers. Single-molecule motility assays show that KIF3AC moves processively along microtubules at a rate faster than expected given the motility rates of the KIF3AA and much slower KIF3CC homodimers. To resolve the stepping kinetics of KIF3A and KIF3C motors in homo- and heterodimeric constructs and determine their transport potential under load, we assayed motor activity using interferometric scattering microscopy and optical trapping...
July 7, 2020: Proceedings of the National Academy of Sciences of the United States of America
#27
REVIEW
Claire E H Barber, Marinka Twilt, Tram Pham, Gillian R Currie, Susanne Benseler, Rae S M Yeung, Michelle Batthish, Nicholas Blanchette, Jaime Guzman, Bianca Lang, Claire LeBlanc, Deborah M Levy, Christine O'Brien, Heinrike Schmeling, Gordon Soon, Lynn Spiegel, Kristi Whitney, Deborah A Marshall
BACKGROUND: The evaluation of quality of care in juvenile idiopathic arthritis (JIA) is critical for advancing patient outcomes but is not currently part of routine care across all centers in Canada. The study objective is to review the current landscape of JIA quality measures and use expert panel consensus to define key performance indicators (KPIs) that are important and feasible to collect for routine monitoring in JIA care in Canada. METHODS: Thirty-seven candidate KPIs identified from a systematic review were reviewed for inclusion by a working group including 3 pediatric rheumatologists...
March 19, 2020: Arthritis Research & Therapy
#28
JOURNAL ARTICLE
Lin Luo, Mateusz C Ambrozkiewicz, Fritz Benseler, Cui Chen, Emilie Dumontier, Susanne Falkner, Elisabetta Furlanis, Andrea M Gomez, Naosuke Hoshina, Wei-Hsiang Huang, Mary Anne Hutchison, Yu Itoh-Maruoka, Laura A Lavery, Wei Li, Tomohiko Maruo, Junko Motohashi, Emily Ling-Lin Pai, Kenneth A Pelkey, Ariane Pereira, Thomas Philips, Jennifer L Sinclair, Jeff A Stogsdill, Lisa Traunmüller, Jiexin Wang, Joke Wortel, Wenjia You, Nashat Abumaria, Kevin T Beier, Nils Brose, Harold A Burgess, Constance L Cepko, Jean-François Cloutier, Cagla Eroglu, Sandra Goebbels, Pascal S Kaeser, Jeremy N Kay, Wei Lu, Liqun Luo, Kenji Mandai, Chris J McBain, Klaus-Armin Nave, Marco A M Prado, Vania F Prado, Jeffrey Rothstein, John L R Rubenstein, Gesine Saher, Kenji Sakimura, Joshua R Sanes, Peter Scheiffele, Yoshimi Takai, Hisashi Umemori, Matthijs Verhage, Michisuke Yuzaki, Huda Yahya Zoghbi, Hiroshi Kawabe, Ann Marie Craig
The Cre-loxP system is invaluable for spatial and temporal control of gene knockout, knockin, and reporter expression in the mouse nervous system. However, we report varying probabilities of unexpected germline recombination in distinct Cre driver lines designed for nervous system-specific recombination. Selective maternal or paternal germline recombination is showcased with sample Cre lines. Collated data reveal germline recombination in over half of 64 commonly used Cre driver lines, in most cases with a parental sex bias related to Cre expression in sperm or oocytes...
April 8, 2020: Neuron
#29
JOURNAL ARTICLE
Tania Cellucci, Heather Van Mater, Francesc Graus, Eyal Muscal, William Gallentine, Marisa S Klein-Gitelman, Susanne M Benseler, Jennifer Frankovich, Mark P Gorman, Keith Van Haren, Josep Dalmau, Russell C Dale
OBJECTIVE: Autoimmune encephalitis (AE) is an important and treatable cause of acute encephalitis. Diagnosis of AE in a developing child is challenging because of overlap in clinical presentations with other diseases and complexity of normal behavior changes. Existing diagnostic criteria for adult AE require modification to be applied to children, who differ from adults in their clinical presentations, paraclinical findings, autoantibody profiles, treatment response, and long-term outcomes...
March 2020: Neurology® Neuroimmunology & Neuroinflammation
#30
JOURNAL ARTICLE
Elham Rezaei, Daniel Hogan, Brett Trost, Anthony J Kusalik, Gilles Boire, David A Cabral, Sarah Campillo, Gaëlle Chédeville, Anne-Laure Chetaille, Paul Dancey, Ciaran Duffy, Karen Watanabe Duffy, John Gordon, Jaime Guzman, Kristin Houghton, Adam M Huber, Roman Jurencak, Bianca Lang, Kimberly Morishita, Kiem G Oen, Ross E Petty, Suzanne E Ramsey, Rosie Scuccimarri, Lynn Spiegel, Elizabeth Stringer, Regina M Taylor-Gjevre, Shirley M L Tse, Lori B Tucker, Stuart E Turvey, Susan Tupper, Rae S M Yeung, Susanne Benseler, Janet Ellsworth, Chantal Guillet, Chandima Karananayake, Nazeem Muhajarine, Johannes Roth, Rayfel Schneider, Alan M Rosenberg
OBJECTIVE: To identify early predictors of disease activity at 18 months in JIA using clinical and biomarker profiling. METHODS: Clinical and biomarker data were collected at JIA diagnosis in a prospective longitudinal inception cohort of 82 children with non-systemic JIA, and their ability to predict an active joint count of 0, a physician global assessment of disease activity of ≤1 cm, and inactive disease by Wallace 2004 criteria 18 months later was assessed...
September 1, 2020: Rheumatology
#31
MULTICENTER STUDY
Adriana A de Jesus, Yangfeng Hou, Stephen Brooks, Louise Malle, Angelique Biancotto, Yan Huang, Katherine R Calvo, Bernadette Marrero, Susan Moir, Andrew J Oler, Zuoming Deng, Gina A Montealegre Sanchez, Amina Ahmed, Eric Allenspach, Bita Arabshahi, Edward Behrens, Susanne Benseler, Liliana Bezrodnik, Sharon Bout-Tabaku, AnneMarie C Brescia, Diane Brown, Jon M Burnham, Maria Soledad Caldirola, Ruy Carrasco, Alice Y Chan, Rolando Cimaz, Paul Dancey, Jason Dare, Marietta DeGuzman, Victoria Dimitriades, Ian Ferguson, Polly Ferguson, Laura Finn, Marco Gattorno, Alexei A Grom, Eric P Hanson, Philip J Hashkes, Christian M Hedrich, Ronit Herzog, Gerd Horneff, Rita Jerath, Elizabeth Kessler, Hanna Kim, Daniel J Kingsbury, Ronald M Laxer, Pui Y Lee, Min Ae Lee-Kirsch, Laura Lewandowski, Suzanne Li, Vibke Lilleby, Vafa Mammadova, Lakshmi N Moorthy, Gulnara Nasrullayeva, Kathleen M O'Neil, Karen Onel, Seza Ozen, Nancy Pan, Pascal Pillet, Daniela Gp Piotto, Marilynn G Punaro, Andreas Reiff, Adam Reinhardt, Lisa G Rider, Rafael Rivas-Chacon, Tova Ronis, Angela Rösen-Wolff, Johannes Roth, Natasha Mckerran Ruth, Marite Rygg, Heinrike Schmeling, Grant Schulert, Christiaan Scott, Gisella Seminario, Andrew Shulman, Vidya Sivaraman, Mary Beth Son, Yuriy Stepanovskiy, Elizabeth Stringer, Sara Taber, Maria Teresa Terreri, Cynthia Tifft, Troy Torgerson, Laura Tosi, Annet Van Royen-Kerkhof, Theresa Wampler Muskardin, Scott W Canna, Raphaela Goldbach-Mansky
BACKGROUNDUndifferentiated systemic autoinflammatory diseases (USAIDs) present diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine dysregulation may identify diseases with available targeted treatments.METHODSSixty-six consecutively referred USAID patients underwent underwent screening for the presence of an interferon signature using a standardized type-I IFN-response-gene score (IRG-S), cytokine profiling, and genetic evaluation by next-generation sequencing.RESULTSThirty-six USAID patients (55%) had elevated IRG-S...
April 1, 2020: Journal of Clinical Investigation
#32
JOURNAL ARTICLE
Claire E H Barber, Lisa M Lix, Diane Lacaille, Deborah A Marshall, Kristine Kroeker, Susanne Benseler, Marinka Twilt, Heinrike Schmeling, Cheryl Barnabe, Glen S Hazlewood, Vivian Bykerk, Joanne Homik, J Carter Thorne, Jennifer Burt, Dianne Mosher, Steven Katz, Natalie J Shiff
BACKGROUND: The study evaluates Performance Measures (PMs) for Juvenile Idiopathic Arthritis (JIA): The percentage of patients with new onset JIA with at least one visit to a pediatric rheumatologist in the first year of diagnosis (PM1); and the percentage of patients with JIA under rheumatology care seen in follow-up at least once per year (PM2). METHODS: Validated JIA case ascertainment algorithms were used to identify cases from provincial health administrative databases in Manitoba, Canada in patients < 16 years between 01/04/2005 and 31/03/2015...
August 14, 2019: BMC Health Services Research
#33
REVIEW
Michelle M A Kip, Gillian Currie, Deborah A Marshall, Luiza Grazziotin Lago, Marinka Twilt, Sebastiaan J Vastert, Joost F Swart, Nico Wulffraat, Rae S M Yeung, Susanne M Benseler, Maarten J IJzerman
BACKGROUND: This study aims to describe current practice in identifying and measuring health care resource use and unit costs in economic evaluations or costing studies of juvenile idiopathic arthritis (JIA). METHODS: A scoping review was conducted (in July 2018) in PubMed and Embase to identify economic evaluations, costing studies, or resource utilization studies focusing on patients with JIA. Only English language peer-reviewed articles reporting primary research were included...
May 6, 2019: Pediatric Rheumatology Online Journal
#34
JOURNAL ARTICLE
Claire E H Barber, Namneet Sandhu, James A Rankin, Paul MacMullan, Deborah A Marshall, Cheryl Barnabe, Glen S Hazlewood, Andrea Emrick, Martina Stevenson, Karen L Then, Susanne Benseler, Marinka Twilt, Dianne Mosher
OBJECTIVES: To develop a web-based tool (Rheum4U) to capture clinically meaningful data to direct treatment. Rheum4U integrates longitudinal clinical data capture of rheumatoid arthritis (RA) disease activity measures and patient-reported outcomes measures (PROMs). This study tests the feasibility, acceptability and efficiency of Rheum4U among patients and healthcare providers. METHODS: Rheum4U was developed in two phases: P1 design and development; and P2 pilot testing...
August 29, 2018: Clinical and Experimental Rheumatology
#35
JOURNAL ARTICLE
Nienke M Ter Haar, Amber Laetitia Justine van Delft, Kim Valerie Annink, Henk van Stel, Sulaiman M Al-Mayouf, Gayane Amaryan, Jordi Anton, Karyl S Barron, Susanne Benseler, Paul A Brogan, Luca Cantarini, Marco Cattalini, Alexis-Virgil Cochino, Fabrizio de Benedetti, Fatma Dedeoglu, Adriana Almeida de Jesus, Erkan Demirkaya, Pavla Dolezalova, Karen L Durrant, Giovanna Fabio, Romina Gallizzi, Raphaela Goldbach-Mansky, Eric Hachulla, Veronique Hentgen, Troels Herlin, Michaël Hofer, Hal M Hoffman, Antonella Insalaco, Annette F Jansson, Tilmann Kallinich, Isabelle Kone-Paut, Anna Kozlova, Jasmin Beate Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Alberto Martini, Susan Nielsen, Irina Nikishina, Amanda K Ombrello, Seza Özen, Efimia Papadopoulou-Alataki, Pierre Quartier, Donato Rigante, Ricardo Russo, Anna Simon, Maria Trachana, Yosef Uziel, Angelo Ravelli, Grant Schulert, Marco Gattorno, Joost Frenkel
INTRODUCTION: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. The aim of this study was to validate this tool for its intended use in a clinical/research setting...
November 2018: Annals of the Rheumatic Diseases
#36
JOURNAL ARTICLE
Claire E H Barber, J Carter Thorne, Vandana Ahluwalia, Jennifer Burt, Diane Lacaille, Deborah A Marshall, Glen S Hazlewood, Dianne Mosher, Lisa Denning, Ildiko Szamko, Ricky Chin, Sean Hamilton, Susanne Benseler, Marinka Twilt, Natalie J Shiff, Vivian Bykerk, Joanne Homik, Cheryl Barnabe
OBJECTIVE: To test the feasibility of reporting on 4 national performance measures for patients with rheumatoid arthritis (RA) in 5 different models of care. METHODS: The following performance measures were evaluated in 5 models of care: waiting time (WT) to rheumatologist consultation, percentage of patients seen in yearly followup (FU), percentage taking disease-modifying antirheumatic drugs (DMARD), and time to starting DMARD. All models aimed to improve early access and care for patients with RA...
November 2018: Journal of Rheumatology
#37
JOURNAL ARTICLE
Heynric B Grotenhuis, Florence A Aeschlimann, Wei Hui, Cameron Slorach, Rae S M Yeung, Susanne M Benseler, Timothy J Bradley, Lars Grosse-Wortmann
BACKGROUND/OBJECTIVE: Takayasu arteritis (TA) is characterized by extensive aortic, large and midsize arterial wall inflammation. The aim of this study was to assess the morphological and elastic properties of the aorta and large arteries and the impact on left ventricular (LV) mechanics in children with TA. METHODS: Seven pediatric TA patients (6 female patients, 13.8 ± 3.2 years) were assessed with magnetic resonance imaging, vascular ultrasound, applanation tonometry, and echocardiography from February 2015 until July 2017 and compared with 7 age- and sex-matched controls...
May 19, 2018: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
#38
JOURNAL ARTICLE
Ameya R Kirtane, Omar Abouzid, Daniel Minahan, Taylor Bensel, Alison L Hill, Christian Selinger, Anna Bershteyn, Morgan Craig, Shirley S Mo, Hormoz Mazdiyasni, Cody Cleveland, Jaimie Rogner, Young-Ah Lucy Lee, Lucas Booth, Farhad Javid, Sarah J Wu, Tyler Grant, Andrew M Bellinger, Boris Nikolic, Alison Hayward, Lowell Wood, Philip A Eckhoff, Martin A Nowak, Robert Langer, Giovanni Traverso
The efficacy of antiretroviral therapy is significantly compromised by medication non-adherence. Long-acting enteral systems that can ease the burden of daily adherence have not yet been developed. Here we describe an oral dosage form composed of distinct drug-polymer matrices which achieved week-long systemic drug levels of the antiretrovirals dolutegravir, rilpivirine and cabotegravir in a pig. Simulations of viral dynamics and patient adherence patterns indicate that such systems would significantly reduce therapeutic failures and epidemiological modelling suggests that using such an intervention prophylactically could avert hundreds of thousands of new HIV cases...
January 9, 2018: Nature Communications
#39
JOURNAL ARTICLE
Koen Schakenraad, Andreas S Biebricher, Maarten Sebregts, Brian Ten Bensel, Erwin J G Peterman, Gijs J L Wuite, Iddo Heller, Cornelis Storm, Paul van der Schoot
The three-dimensional structure of DNA is highly susceptible to changes by mechanical and biochemical cues in vivo and in vitro. In particular, large increases in base pair spacing compared to regular B-DNA are effected by mechanical (over)stretching and by intercalation of compounds that are widely used in biophysical/chemical assays and drug treatments. We present single-molecule experiments and a three-state statistical mechanical model that provide a quantitative understanding of the interplay between B-DNA, overstretched DNA and intercalated DNA...
December 19, 2017: Nature Communications
#40
JOURNAL ARTICLE
Florence A Aeschlimann, Simon W M Eng, Shehla Sheikh, Ronald M Laxer, Diane Hebert, Damien Noone, Marinka Twilt, Christian Pagnoux, Susanne M Benseler, Rae S M Yeung
BACKGROUND: Takayasu arteritis (TAK) is a large vessel vasculitis that rarely affects children. Data on childhood TAK are scarce. The aim of this study was to analyze the presenting features, course and outcome of children with TAK, compare efficacy of treatment regimens and identify high-risk factors for adverse outcome. METHODS: A single-center cohort study of consecutive children fulfilling the EULAR/PRINTO/PReS criteria for childhood TAK between 1986 and 2015 was performed...
November 22, 2017: Arthritis Research & Therapy
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