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JOURNAL ARTICLE
Bo Chen, Enrique Gomez-Figueroa, Vyanka Redenbaugh, Anna Francis, Chanjira Satukijchai, Yan Wu, Silvia Messina, Mario Sa, Mark Woodhall, Neil P Robertson, Ming Lim, Evangeline Wassmer, Rachel Kneen, Saif Huda, Camilla Blain, Christopher Halfpenny, Cheryl Hemingway, Eoin O'Sullivan, Jeremy Hobart, Leonora K Fisniku, Roswell J Martin, Ruth Dobson, Sarah A Cooper, Victoria Williams, Patrick Waters, John J Chen, Sean J Pittock, Sithara Ramdas, Maria Isabel Leite, Eoin P Flanagan, Ruth Geraldes, Jacqueline Palace
OBJECTIVE: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) can be monophasic or relapsing, with early relapse being a feature. However, the relevance of early relapse on longer-term relapse risk is unknown. Here, we investigate whether early relapses increase longer-term relapse risk in patients with MOGAD. METHODS: A retrospective analysis of 289 adult- and pediatric-onset patients with MOGAD followed for at least 2 years in 6 specialized referral centers...
September 2023: Annals of Neurology
#22
JOURNAL ARTICLE
Ian D Hay, Robert A Lee, Carl C Reading, Siobhan T Pittock, Animesh Sharma, Geoffrey B Thompson, J William Charboneau
CONTEXT: Childhood papillary thyroid carcinoma (CPTC), despite bilateral thyroidectomy, nodal dissection and radioiodine remnant ablation (RRA), recurs within neck nodal metastases (NNM) in 33% within 20 postoperative years. These NNM are usually treated with reoperation or further radioiodine. Ethanol ablation (EA) may be considered when numbers of NNM are limited. OBJECTIVE: We studied the long-term results of EA in 14 patients presenting with CPTC during 1978 to 2013 and having EA for NNM during 2000 to 2018...
June 5, 2023: Journal of the Endocrine Society
#23
JOURNAL ARTICLE
Binxia Yang, Andrew Brown, Andrew McKeon, J Eric Ahlskog, Philip Tipton, Yong Guo, Claudia Lucchinetti, Sean J Pittock, Anastasia Zekeridou
Autoimmune movement disorders are increasingly recognized, but isolated tremor is extremely rare. We describe a 70-year-old male with rapidly progressive, severe postural and intention tremor and weight loss. His cerebrospinal fluid was inflammatory and harbored a neural tissue-restricted antibody. The autoantigen was identified by immunoprecipitation and mass spectrometry and confirmed by antigen-specific assays to be specific for tenascin-R. He was investigated for cancer and diagnosed with follicular lymphoma that expressed tenascin-R suggesting a paraneoplastic origin; cancer treatment and immunotherapy led to complete recovery...
September 2023: Annals of Neurology
#24
JOURNAL ARTICLE
Kelsey M Smith, Jeffrey W Britton, Smathorn Thakolwiboon, Nicholas H Chia, Pranjal Gupta, Eoin P Flanagan, Anastasia Zekeridou, Alfonso S Lopez Chiriboga, Cristina Valencia Sanchez, Andrew McKeon, Sean J Pittock, Divyanshu Dubey
OBJECTIVE: Seizures are a common manifestation of paraneoplastic neurologic syndromes. The objective of this study was to describe the seizure characteristics and outcomes in patients with high-risk paraneoplastic autoantibodies (>70% cancer association) and to determine factors associated with ongoing seizures. METHODS: Patients from 2000 to 2020 with seizures and high-risk paraneoplastic autoantibodies were retrospectively identified. Factors associated with ongoing seizures at last follow-up were evaluated...
September 2023: Epilepsia
#25
JOURNAL ARTICLE
Filippo Pinto E Vairo, Jennifer L Kemppainen, Carolyn R Rohrer Vitek, Denise A Whalen, Kayla J Kolbert, Kaitlin J Sikkink, Sarah A Kroc, Teresa Kruisselbrink, Gabrielle F Shupe, Alyssa K Knudson, Elizabeth M Burke, Elle C Loftus, Lorelei A Bandel, Carri A Prochnow, Lindsay A Mulvihill, Brittany Thomas, Dale M Gable, Courtney B Graddy, Giovanna G Moreno Garzon, Idara U Ekpoh, Eva M Carmona Porquera, Fernando C Fervenza, Marie C Hogan, Mireille El Ters, Kenneth J Warrington, John M Davis, Matthew J Koster, Amir B Orandi, Matthew L Basiaga, Adrian Vella, Seema Kumar, Ana L Creo, Aida N Lteif, Siobhan T Pittock, Peter J Tebben, Ejigayehu G Abate, Avni Y Joshi, Elizabeth H Ristagno, Mrinal S Patnaik, Lisa A Schimmenti, Radhika Dhamija, Sonia M Sabrowsky, Klaas J Wierenga, Mira T Keddis, Niloy Jewel J Samadder, Richard J Presutti, Steven I Robinson, Michael C Stephens, Lewis R Roberts, William A Faubion, Sherilyn W Driscoll, Lily C Wong-Kisiel, Duygu Selcen, Eoin P Flanagan, Vijay K Ramanan, Lauren M Jackson, Michelle L Mauermann, Victor E Ortega, Sarah A Anderson, Stacy L Aoudia, Eric W Klee, Tammy M McAllister, Konstantinos N Lazaridis
BACKGROUND: In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education...
June 23, 2023: Journal of Translational Medicine
#26
JOURNAL ARTICLE
Laura Cacciaguerra, Vyanka Redenbaugh, John J Chen, Pearse Morris, Elia Sechi, Stephanie B Syc-Mazurek, A Sebastian Lopez-Chiriboga, Jan-Mendelt Tillema, Maria A Rocca, Massimo Filippi, Sean J Pittock, Eoin P Flanagan
OBJECTIVES: To determine the timing and predictors of T2-lesion resolution in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). METHODS: This retrospective observational study using standard-of-care data had inclusion criteria of MOGAD diagnosis, ≥2 MRIs 12 months apart, and ≥1 brain/spinal cord T2-lesion. The median (interquartile range [IQR]) number of MRIs (82% at disease onset) per-patient were: brain, 5 (2-8); spine, 4 (2-8)...
September 26, 2023: Neurology
#27
JOURNAL ARTICLE
Alterations in Aquaporin-4-IgG Serostatus in 986 Patients: A Laboratory-Based Longitudinal Analysis.
Masoud Majed, Cristina Valencia Sanchez, Jeffrey L Bennett, James Fryer, Martin D Mulligan, Vyankya Redenbaugh, Andrew McKeon, John R Mills, Dean M Wingerchuk, Vanda A Lennon, Brian Weinshenker, John J Chen, Eoin P Flanagan, Sean J Pittock, Amy Kunchok
OBJECTIVE: This study was undertaken to investigate factors associated with aquaporin-4 (AQP4)-IgG serostatus change using a large serological database. METHODS: This retrospective study utilizes Mayo Clinic Neuroimmunology Laboratory data from 2007 to 2021. We included all patients with ≥2 AQP4-IgG tests (by cell-based assay). The frequency and clinical factors associated with serostatus change were evaluated. Multivariable logistic regression analysis examined whether age, sex, or initial titer was associated with serostatus change...
October 2023: Annals of Neurology
#28
JOURNAL ARTICLE
Nanthaya Tisavipat, Bryce K Chang, Farwa Ali, Sean J Pittock, Ryan Kammeyer, Anthony Declusin, Samuel J Cohn, Eoin P Flanagan
Jaw dystonia and laryngospasm in the context of subacute brainstem dysfunction have been described in a small number of diseases, including antineuronal nuclear antibody type 2 (ANNA-2, also known as anti-Ri) paraneoplastic neurologic syndrome. Severe episodes of laryngospasms causing cyanosis are potentially fatal. Jaw dystonia can also cause eating difficulty, resulting in severe weight loss and malnutrition. In this report, we highlight the multidisciplinary management of this syndrome associated with ANNA-2/anti-Ri paraneoplastic neurologic syndrome and discuss its pathogenesis...
July 2023: Neurology® Neuroimmunology & Neuroinflammation
#29
RANDOMIZED CONTROLLED TRIAL
Brian G Weinshenker, Dean M Wingerchuk, Ari J Green, Jeffrey L Bennett, Ho Jin Kim, Sean J Pittock, Kazuo Fujihara, Friedemann Paul, Gary Cutter, Romain Marignier, Orhan Aktas, Hans-Peter Hartung, Dewei She, Michael Smith, William Rees, Kristina Patterson, Daniel Cimbora, Eliezer Katz, Bruce Ac Cree
BACKGROUND: The N-MOmentum trial investigated safety and efficacy of inebilizumab in participants with neuromyelitis optica spectrum disorder (NMOSD). OBJECTIVE: Evaluate the attack identification process and adjudication committee (AC) performance in N-MOmentum. METHODS: Adults ( n = 230) with NMOSD and Expanded Disability Status Scale score ⩽8 were randomized (3:1) to inebilizumab 300 mg or placebo. The randomized controlled period was 28 weeks or until adjudicated attack...
July 2023: Multiple Sclerosis: Clinical and Laboratory Research
#30
JOURNAL ARTICLE
Friedemann Paul, Romain Marignier, Jacqueline Palace, Georgina Arrambide, Nasrin Asgari, Jeffrey L Bennett, Bruce Anthony Campbell Cree, Jérôme De Sèze, Kazuo Fujihara, Ho Jin Kim, Rebecca Hornby, Saif Huda, Najib Kissani, Ingo Kleiter, Satoshi Kuwabara, Marco Lana-Peixoto, Lisa Law, M Isabel Leite, Lekha Pandit, Sean J Pittock, Chao Quan, Sudarshini Ramanathan, Dalia Rotstein, Albert Saiz, Douglas Kazutoshi Sato, Adi Vaknin-Dembinsky
BACKGROUND AND OBJECTIVES: Neuromyelitis optica spectrum disorder (NMOSD) is a rare debilitating autoimmune disease of the CNS. Three monoclonal antibodies were recently approved as maintenance therapies for aquaporin-4 immunoglobulin G (AQP4-IgG)-seropositive NMOSD (eculizumab, inebilizumab, and satralizumab), prompting the need to consider best practice therapeutic decision-making for this indication. Our objective was to develop validated statements for the management of AQP4-IgG-seropositive NMOSD, through an evidence-based Delphi consensus process, with a focus on recommendations for eculizumab, inebilizumab, and satralizumab...
July 2023: Neurology® Neuroimmunology & Neuroinflammation
#31
JOURNAL ARTICLE
Orhan Aktas, Hans-Peter Hartung, Michael A Smith, William A Rees, Kazuo Fujihara, Friedemann Paul, Romain Marignier, Jeffrey L Bennett, Ho Jin Kim, Brian G Weinshenker, Sean J Pittock, Dean M Wingerchuk, Gary Cutter, Dewei She, Michele Gunsior, Daniel Cimbora, Eliezer Katz, Bruce A Cree
OBJECTIVE: To investigate relationships between serum neurofilament light chain (sNfL), ubiquitin C-terminal hydrolase L1 (sUCHL1), tau (sTau) and glial fibrillary acidic protein (sGFAP) levels and disease activity/disability in neuromyelitis optica spectrum disorder (NMOSD), and the effects of inebilizumab on these biomarkers in N-MOmentum. METHODS: N-MOmentum randomised participants to receive inebilizumab or placebo with a randomised controlled period (RCP) of 28 weeks and an open-label follow-up period of ≥2 years...
May 23, 2023: Journal of Neurology, Neurosurgery, and Psychiatry
#32
JOURNAL ARTICLE
Paul Elsbernd, Laura Cacciaguerra, Karl N Krecke, John J Chen, David Gritsch, A Sebastian Lopez-Chiriboga, Elia Sechi, Vyanka Redenbaugh, Padraig P Morris, Jonathan L Carter, Dean M Wingerchuk, Jan-Mendelt Tillema, Cristina Valencia-Sanchez, Smathorn Thakolwiboon, Sean J Pittock, Eoin P Flanagan
INTRODUCTION: Limited data exist on brain MRI enhancement in myelin-oligodendrocyte-glycoprotein (MOG) antibody-associated disease (MOGAD) and differences from aquaporin-4-IgG-positive-neuromyelitis-optica-spectrum-disorder (AQP4+NMOSD), and multiple sclerosis (MS). METHODS: In this retrospective observational study, we identified 122 Mayo Clinic MOGAD patients (1 January 1996-1 July 2020) with cerebral attacks. We explored enhancement patterns using a discovery set (n=41)...
May 23, 2023: Journal of Neurology, Neurosurgery, and Psychiatry
#33
JOURNAL ARTICLE
Vyanka Redenbaugh, Nicholas H Chia, Laura Cacciaguerra, Jennifer A McCombe, Jan-Mendelt Tillema, John J Chen, A Sebastian Lopez Chiriboga, Elia Sechi, Yael Hacohen, Sean J Pittock, Eoin P Flanagan
BACKGROUND: Magnetic resonance imaging (MRI) T2-lesions resolve more often in myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) than aquaporin-4 IgG-positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD) and multiple sclerosis (MS) in adults but few studies analyzed children. OBJECTIVE: The main objective of this study is to investigate MRI T2-lesion evolution in pediatric MOGAD, AQP4 + NMOSD, and MS. METHODS: Inclusion criteria were as follows: (1) first clinical attack; (2) abnormal MRI (⩽6 weeks); (3) follow-up MRI beyond 6 months without relapses in that region; and (4) age < 18 years...
June 2023: Multiple Sclerosis: Clinical and Laboratory Research
#34
JOURNAL ARTICLE
Nicholas H Chia, Andrew McKeon, Marinos C Dalakas, Eoin P Flanagan, James H Bower, Bryan T Klassen, Divyanshu Dubey, Nicholas L Zalewski, Dustin Duffy, Sean J Pittock, Anastasia Zekeridou
BACKGROUND: Stiff person spectrum disorder (SPSD) is heterogeneous, and accurate diagnosis can be challenging. METHODS: Patients referred for diagnosis/suspicion of SPSD at the Mayo Autoimmune Neurology Clinic from July 01, 2016, to June 30, 2021, were retrospectively identified. SPSD diagnosis was defined as clinical SPSD manifestations confirmed by an autoimmune neurologist and seropositivity for high-titer GAD65-IgG (>20.0 nmol/L), glycine-receptor-IgG or amphiphysin-IgG, and/or confirmatory electrodiagnostic studies (essential if seronegative)...
May 22, 2023: Annals of Clinical and Translational Neurology
#35
JOURNAL ARTICLE
Lauren M Webb, Laura Cacciaguerra, Karl N Krecke, John J Chen, Elia Sechi, Vyanka Redenbaugh, Divyanshu Dubey, Sean J Pittock, Eoin P Flanagan
OBJECTIVE: To assess marked central canal T2-hyperintensity in patients with myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) myelitis compared to myelitis patients with aquaporin-4-antibody-positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD) and multiple sclerosis (MS). MATERIAL/METHODS: Two blinded raters evaluated spinal cord magnetic resonance imaging (MRIs) of myelitis patients with MOGAD (n = 63), AQP4 + NMOSD (n = 37), and MS (n = 26), assessing for marked central canal T2-hyperintensity and its evolution...
July 15, 2023: Journal of the Neurological Sciences
#36
JOURNAL ARTICLE
Cristina Valencia-Sanchez, Elia Sechi, Divyanshu Dubey, Eoin P Flanagan, Andrew McKeon, Sean J Pittock, Anastasia Zekeridou
BACKGROUND AND PURPOSE: Outcome and rechallenge data on central nervous system (CNS) autoimmunity triggered by immune checkpoint inhibitors (ICIs) are limited. We aim to describe a large series of patients with ICI-triggered CNS autoimmunity, and to compare these patients with spontaneous paraneoplastic syndromes (PNS). METHODS: We retrospectively reviewed Mayo Clinic patients with ICI-triggered CNS autoimmunity (February 2015-June 2021). Clinical characteristics were compared to spontaneous PNS patients (with antineuronal nuclear antibody [ANNA]-1 or anti-Hu neurological autoimmunity, and/or neuroendocrine tumors [NET]) evaluated within the same period...
May 7, 2023: European Journal of Neurology
#37
JOURNAL ARTICLE
Emma Orozco, Cristina Valencia-Sanchez, Jeffrey Britton, Divyanshu Dubey, Eoin P Flanagan, A Sebastian Lopez-Chiriboga, Nicholas Zalewski, Anastasia Zekeridou, Sean J Pittock, Andrew McKeon
BACKGROUND AND OBJECTIVES: To assess the clinical practice applicability of autoimmune encephalitis (AE) criteria (2016). METHODS: Medical records of 538 adults diagnosed with AE or related autoimmune encephalopathy at Mayo Clinic (not including pure movement disorders) were reviewed and AE guideline criteria applied. RESULTS: Of 538 patients, 288 were male (52%). The median symptom onset age was 55 years (range, 11-97 years; 16 had onset as children)...
June 2023: Neurology. Clinical Practice
#38
JOURNAL ARTICLE
Achim Berthele, Michael Levy, Dean M Wingerchuk, Sean J Pittock, Shulian Shang, Adrian Kielhorn, Minying Royston, Guido Sabatella, Jacqueline Palace
BACKGROUND: Cumulative damage from multiple relapses in neuromyelitis optica spectrum disorder (NMOSD) is associated with poor health-related quality of life (HRQoL) and long-term disability in patients positive for anti-aquaporin 4 antibodies (AQP4+). This study assessed the effect of an individual relapse on HRQoL and disability outcomes in AQP4+ NMOSD. METHODS: Post hoc analyses of data pooled from the PREVENT study and its open-label extension, which evaluated the efficacy and safety of eculizumab in AQP4+ NMOSD, examined the effect of a single relapse on 3 disability and 4 HRQoL outcome measures...
2023: Frontiers in Neurology
#39
JOURNAL ARTICLE
Devon A Cohen, Deena Tajfirouz, Ivana Vodopivec, Kevin Kyle, Marc A Bouffard, Shamik Bhattacharyya, Vanja C Douglas, Nailyn Rasool, M Tariq Bhatti, Andrew McKeon, Sean Pittock, Eoin P Flanagan, Sashank Prasad, Venna Nagagopal, Robert A Egan, John J Chen, Bart K Chwalisz
BACKGROUND: Susac syndrome is a vasculopathy, resulting in the classic triad of branch retinal artery occlusion (BRAO), inner ear ischemia, and brain ischemia. In this retrospective chart review, we characterize fluorescein angiography (FA) findings and other ancillary studies in Susac syndrome, including the appearance of persistent disease activity and the occurrence of new subclinical disease on FA. METHODS: This multicenter, retrospective case series was institutional review board-approved and included patients with the complete triad of Susac syndrome evaluated with FA, contrasted MRI of the brain, and audiometry from 2010 to 2020...
April 19, 2023: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
#40
JOURNAL ARTICLE
Alaa Al Nofal, Christian Hanna, Aida N Lteif, Siobhan T Pittock, Jonathan D Schwartz, Jane E Brumbaugh, Ana L Creo
OBJECTIVES: There have been recent advances assessing copeptin levels in adults with suspected disorders of vasopressin release. Very limited data exits on copeptin levels in children and infants, especially in a critically-ill hospitalized population where hyper- and hypo-natremia are very common. Our objective is to describe the institutional experience assessing copeptin levels in hospitalized infants and children with hyper- or hypo-natremia. METHODS: We performed a single-center retrospective case series of all infants, children, and adolescents who had an ultrasensitive plasma copeptin level obtained between 2019-2021...
April 10, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM
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