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Jasmin B Kuemmerle-Deschner, Seza Ozen, Pascal N Tyrrell, Isabelle Kone-Paut, Raphaela Goldbach-Mansky, Helen Lachmann, Norbert Blank, Hal M Hoffman, Elisabeth Weissbarth-Riedel, Boris Hugle, Tilmann Kallinich, Marco Gattorno, Ahmet Gul, Nienke Ter Haar, Marlen Oswald, Fatma Dedeoglu, Luca Cantarini, Susanne M Benseler
Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with NLRP3 gene mutations and increased interleukin-1 (IL-1) secretion. Early diagnosis and rapid initiation of IL-1 inhibition prevent organ damage. The aim of the study was to develop and validate diagnostic criteria for CAPS. An innovative process was followed including interdisciplinary team building, item generation: review of CAPS registries, systematic literature review, expert surveys, consensus conferences for item refinement, item reduction and weighting using 1000Minds decision software...
October 4, 2016: Annals of the Rheumatic Diseases
Tania Cellucci, Jaime Guzman, Ross E Petty, Michelle Batthish, Susanne M Benseler, Janet E Ellsworth, Kristin M Houghton, Claire M A LeBLANC, Adam M Huber, Nadia Luca, Heinrike Schmeling, Natalie J Shiff, Gordon S Soon, Shirley M L Tse
No abstract text is available yet for this article.
October 2016: Journal of Rheumatology
Florence A Aeschlimann, Lars Grosse-Wortmann, Susanne M Benseler, Ronald M Laxer, Diane Hebert, Rae S M Yeung
BACKGROUND: Arterial vessel wall dissection is a rare, life-threatening and rarely described complication in childhood Takayasu Arteritis (cTA). Prevalence and risk factors for arterial dissection in cTA are unknown. We sought to study the prevalence and analyse risk factors for arterial dissection in cTA. FINDINGS: A single center retrospective review of all children with cTA was performed. Patients with arterial dissection at cTA diagnosis were reported in detail and compared to the remaining single center retrospective cohort of children without dissection...
September 22, 2016: Pediatric Rheumatology Online Journal
Timothy J Bernard, Lauren A Beslow, Marilyn J Manco-Johnson, Jennifer Armstrong-Wells, Richard Boada, David Weitzenkamp, Amanda Hollatz, Sharon Poisson, Catherine Amlie-Lefond, Warren Lo, Gabrielle deVeber, Neil A Goldenberg, Michael M Dowling, E Steve Roach, Heather J Fullerton, Susanne M Benseler, Lori C Jordan, Adam Kirton, Rebecca N Ichord
BACKGROUND AND PURPOSE: There are limited data about the reliability of subtype classification in childhood arterial ischemic stroke, an issue that prompted the IPSS (International Pediatric Stroke Study) to develop the CASCADE criteria (Childhood AIS Standardized Classification and Diagnostic Evaluation). Our purpose was to determine the CASCADE criteria's reliability in a population of children with stroke. METHODS: Eight raters from the IPSS reviewed neuroimaging and clinical records of 64 cases (16 cases each) randomly selected from a prospectively collected cohort of 113 children with arterial ischemic stroke and classified them using the CASCADE criteria...
October 2016: Stroke; a Journal of Cerebral Circulation
Jorina Elbers, Derek Armstrong, Ivanna Yau, Susanne Benseler
BACKGROUND: Inflammation affecting cerebral blood vessels is a common cause of stroke in children. Arterial abnormalities on vascular imaging are an important risk factor for stroke recurrence. We aimed to describe the vascular imaging outcomes in children with primary angiitis of the central nervous system after 12 months and identify factors associated with vascular progression and stroke recurrence. METHODS: We retrospectively analyzed clinical and neuroimaging data from the BrainWorks Registry of children with large-vessel primary angiitis of the central nervous system...
October 2016: Pediatric Neurology
Marinka Twilt, Susanne M Benseler
Primary angiitis of the central nervous system (PACNS) is an inflammatory brain disease targeting the cerebral blood vessels, leading to a wide spectrum of signs and symptoms, including neurologic deficits, cognitive dysfunction, and psychiatric symptoms. The inflammation could be reversible if diagnosed and treated early. The diagnosis requires the careful consideration and rapid evaluation of systemic underlying conditions and disease mimics. The differential diagnosis is distinctly different for angiography-positive and -negative PACNS subtypes and differs depending on age, so there is childhood PACNS or adult PACNS...
2016: Handbook of Clinical Neurology
David A Cabral, Debra L Canter, Eyal Muscal, Kabita Nanda, Dawn M Wahezi, Steven J Spalding, Marinka Twilt, Susanne M Benseler, Sarah Campillo, Sirirat Charuvanij, Paul Dancey, Barbara A Eberhard, Melissa E Elder, Aimee Hersh, Gloria C Higgins, Adam M Huber, Raju Khubchandani, Susan Kim, Marisa Klein-Gitelman, Mikhail M Kostik, Erica F Lawson, Tzielan Lee, Joanna M Lubieniecka, Deborah McCurdy, Lakshmi N Moorthy, Kimberly A Morishita, Susan M Nielsen, Kathleen M O'Neil, Andreas Reiff, Goran Ristic, Angela B Robinson, Angelyne Sarmiento, Susan Shenoi, Mary B Toth, Heather A Van Mater, Linda Wagner-Weiner, Jennifer E Weiss, Andrew J White, Rae S M Yeung
OBJECTIVE: To uniquely classify children with microscopic polyangiitis (MPA), to describe their demographic characteristics, presenting clinical features, and initial treatments in comparison to patients with granulomatosis with polyangiitis (Wegener's) (GPA). METHODS: The European Medicines Agency (EMA) classification algorithm was applied by computation to categorical data from patients recruited to the ARChiVe (A Registry for Childhood Vasculitis: e-entry) cohort, with the data censored to November 2015...
October 2016: Arthritis & Rheumatology
Todd R Fredricks, Jeffrey S Benseler
BACKGROUND: Bicuspid aortic valve disease (BAV) is the most common cardiac valve pathology. BAV is associated with aortic root disorders. The literature has few case reports identifying this condition during routine physical exam. CASE REPORT: A 42-yr-old military reservist flight medic presented for his annual military flight physical. He was found to have a faint cardiac murmur. His past family and medical history were remarkable for familial essential hypertension and being told at age 9 that he had a "murmur...
May 2016: Aerospace Medicine and Human Performance
Michelle Vo, Lauren E Holz, Yik Chun Wong, Kieran English, Volker Benseler, Claire McGuffog, Miyuki Azuma, Geoffrey W McCaughan, David G Bowen, Patrick Bertolino
BACKGROUND & AIMS: Acute hepatitis is often mediated by cytotoxic T lymphocytes (CTLs); however, the intrinsic parameters that limit CTL-mediated liver injury are not well understood. METHODS: To investigate whether acute liver damage is limited by molecules that decrease the lifespan or effector function of CTLs, we used a well-characterized transgenic (Tg) mouse model in which acute liver damage develops upon transfer of T cell receptor (TCR) Tg CD8 T cells. Recipient Tg mice received donor TCR Tg T cells deficient for either the pro-apoptotic molecule Bim, which regulates CTL survival, or suppressor of cytokine signaling-1 (SOCS-1), which controls expression of common gamma chain cytokines; the effects of anti-PD-L1 neutralizing antibodies were also assessed...
June 2016: Journal of Hepatology
Francesc Graus, Maarten J Titulaer, Ramani Balu, Susanne Benseler, Christian G Bien, Tania Cellucci, Irene Cortese, Russell C Dale, Jeffrey M Gelfand, Michael Geschwind, Carol A Glaser, Jerome Honnorat, Romana Höftberger, Takahiro Iizuka, Sarosh R Irani, Eric Lancaster, Frank Leypoldt, Harald Prüss, Alexander Rae-Grant, Markus Reindl, Myrna R Rosenfeld, Kevin Rostásy, Albert Saiz, Arun Venkatesan, Angela Vincent, Klaus-Peter Wandinger, Patrick Waters, Josep Dalmau
Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis. Advances in autoimmune encephalitis research in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to these disorders. However, existing criteria for autoimmune encephalitis are too reliant on antibody testing and response to immunotherapy, which might delay the diagnosis. We reviewed the literature and gathered the experience of a team of experts with the aims of developing a practical, syndrome-based diagnostic approach to autoimmune encephalitis and providing guidelines to navigate through the differential diagnosis...
April 2016: Lancet Neurology
Beata Stepniak, Anne Kästner, Giulia Poggi, Marina Mitjans, Martin Begemann, Annette Hartmann, Sandra Van der Auwera, Farahnaz Sananbenesi, Dilja Krueger-Burg, Gabriela Matuszko, Cornelia Brosi, Georg Homuth, Henry Völzke, Fritz Benseler, Claudia Bagni, Utz Fischer, Alexander Dityatev, Hans-Jörgen Grabe, Dan Rujescu, Andre Fischer, Hannelore Ehrenreich
Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of syndromic ASD. It is unknown, however, whether normal variants (independent of mutations) in the fragile X gene family (FMR1, FXR1, FXR2) and in FMR2 modulate autistic features. Here, we report an accumulation model of 8 SNPs in these genes, associated with autistic traits in a discovery sample of male patients with schizophrenia (N = 692) and three independent replicate samples: patients with schizophrenia (N = 626), patients with other psychiatric diagnoses (N = 111) and a general population sample (N = 2005)...
December 2015: EMBO Molecular Medicine
J B Kümmerle-Deschner, J Thomas, S M Benseler
BACKGROUND: The primary vasculitides are rare conditions in childhood. The most common disease subtypes are Schönlein-Henoch purpura and Kawasaki's syndrome, which frequently have a self-limiting course. In the majority of vasculitides, the etiology remains unknown. Environmental exposure, including infections, is suspected to trigger an autoinflammatory response in predisposed individuals. GOAL: The aim of this review is to present the various aspects of childhood vasculitis...
December 2015: Zeitschrift Für Rheumatologie
Lucy McGeoch, Marinka Twilt, Leilani Famorca, Volodko Bakowsky, Lillian Barra, Susan Benseler, David A Cabral, Simon Carette, Gerald P Cox, Navjot Dhindsa, Christine Dipchand, Aurore Fifi-Mah, Michele Goulet, Nader Khalidi, Majed M Khraishi, Patrick Liang, Nataliya Milman, Christian A Pineau, Heather Reich, Nooshin Samadi, Kam Shojania, Regina Taylor-Gjevre, Tanveer E Towheed, Judith Trudeau, Michael Walsh, Elaine Yacyshyn, Christian Pagnoux
The Canadian Vasculitis research network (CanVasc) is composed of physicians from different medical specialties, including rheumatology and nephrology and researchers with expertise in vasculitis. One of its aims was to develop recommendations for the diagnosis and management of antineutrophil cytoplasm antibody (ANCA)-associated vasculitides in Canada. This executive summary features the 19 recommendations and 17 statements addressing general AAV diagnosis and management, developed by CanVasc group based on a synthesis of existing international guidelines, other published supporting evidence and expert consensus considering the Canadian healthcare context...
2015: Canadian Journal of Kidney Health and Disease
Jasmin B Kuemmerle-Deschner, Assen Koitschev, Pascal N Tyrrell, Stefan K Plontke, Norbert Deschner, Sandra Hansmann, Katharina Ummenhofer, Peter Lohse, Christiane Koitschev, Susanne M Benseler
BACKGROUND: Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The aims of the study were to characterize the spectrum of hearing loss, optimize the otologic assessment for early disease and determine responsiveness to anti-IL-1-therapy regarding hearing...
2015: Pediatric Rheumatology Online Journal
Lucy McGeoch, Marinka Twilt, Leilani Famorca, Volodko Bakowsky, Lillian Barra, Susan M Benseler, David A Cabral, Simon Carette, Gerald P Cox, Navjot Dhindsa, Christine S Dipchand, Aurore Fifi-Mah, Michelle Goulet, Nader Khalidi, Majed M Khraishi, Patrick Liang, Nataliya Milman, Christian A Pineau, Heather N Reich, Nooshin Samadi, Kam Shojania, Regina Taylor-Gjevre, Tanveer E Towheed, Judith Trudeau, Michael Walsh, Elaine Yacyshyn, Christian Pagnoux
OBJECTIVE: The Canadian Vasculitis research network (CanVasc) is composed of physicians from different medical specialties and researchers with expertise in vasculitis. One of its aims is to develop recommendations for the diagnosis and management of antineutrophil cytoplasm antibody (ANCA)-associated vasculitides (AAV) in Canada. METHODS: Diagnostic and therapeutic questions were developed based on the results of a national needs assessment survey. A systematic review of existing non-Canadian recommendations and guidelines for the diagnosis and management of AAV and studies of AAV published after the 2009 European League Against Rheumatism/European Vasculitis Society recommendations (publication date: January 2009) until November 2014 was performed in the Medline database, Cochrane library, and main vasculitis conference proceedings...
January 2016: Journal of Rheumatology
Tusty Ten Bensel, Lisa L Sample
Social scientists have long studied the patterns, motivations, and recidivism rates of sexual offenders; however, the majority of prior research has examined rape, where victims are assaulted by a single offender in isolated events. Often overlooked are sexually violent assaults committed during armed conflicts, which often exhibit group-level sexual offending. This oversight could be a result of perceived notions that sexual violence during conflict is a rare or regrettable event; however, it has been documented consistently throughout history...
October 8, 2015: International Journal of Offender Therapy and Comparative Criminology
Stephanie Guzik-Lendrum, Katherine C Rank, Brandon M Bensel, Keenan C Taylor, Ivan Rayment, Susan P Gilbert
Mammalian KIF3AC is classified as a heterotrimeric kinesin-2 that is best known for organelle transport in neurons, yet in vitro studies to characterize its single molecule behavior are lacking. The results presented show that a KIF3AC motor that includes the native helix α7 sequence for coiled-coil formation is highly processive with run lengths of ∼1.23 μm and matching those exhibited by conventional kinesin-1. This result was unexpected because KIF3AC exhibits the canonical kinesin-2 neck-linker sequence that has been reported to be responsible for shorter run lengths observed for another heterotrimeric kinesin-2, KIF3AB...
October 6, 2015: Biophysical Journal
Gregory S Day, Harald Prüss, Susanne M Benseler, Tara A Paton, Andrew D Paterson, Danielle M Andrade
OBJECTIVE: To determine whether distinct single nucleotide polymorphisms (SNPs) within the glutamate receptor ionotropic NMDA 1 gene (GRIN1) are associated with NMDA receptor (NMDAR) encephalitis and whether these same variants are associated with variability in the clinical presentation and course of affected patients. METHODS: We performed clinical follow-up on 48 patients with NMDAR encephalitis and NMDAR autoantibodies detected in serum or CSF. All RefSeq GRIN1 coding exons were sequenced in 39 Caucasian-European patients, and the frequencies of SNPs were compared with those of an ethnically similar population using a case-control study design...
October 2015: Neurology® Neuroimmunology & Neuroinflammation
Saskia Kwan, Elodie Boudes, Anouk Benseler, Guillaume Gilbert, Christine Saint-Martin, Michael Shevell, Pia Wintermark
The objective of this study was to assess the evolution of diffusion-weighted imaging (DWI) and diffusion-tensor imaging (DTI) over the first month of life in asphyxiated newborns treated with hypothermia and to compare it with that of healthy newborns. Asphyxiated newborns treated with hypothermia were enrolled prospectively; and the presence and extent of brain injury were scored on each MRI. Apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values were measured in the basal ganglia, in the white matter and in the cortical grey matter...
2015: Neural Plasticity
Nienke M ter Haar, Marlen Oswald, Jerold Jeyaratnam, Jordi Anton, Karyl S Barron, Paul A Brogan, Luca Cantarini, Caroline Galeotti, Gilles Grateau, Veronique Hentgen, Michael Hofer, Tilmann Kallinich, Isabelle Kone-Paut, Helen J Lachmann, Huri Ozdogan, Seza Ozen, Ricardo Russo, Anna Simon, Yosef Uziel, Carine Wouters, Brian M Feldman, Sebastiaan J Vastert, Nico M Wulffraat, Susanne M Benseler, Joost Frenkel, Marco Gattorno, Jasmin B Kuemmerle-Deschner
: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens for the management of children and young adults with rheumatic diseases, facilitating the clinical practice of paediatricians and (paediatric) rheumatologists...
September 2015: Annals of the Rheumatic Diseases
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