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https://www.readbyqxmd.com/read/29116466/breast-cancer-related-paraneoplastic-neurologic-disease
#1
Brittany L Murphy, Nicholas L Zalewski, Amy C Degnim, Andrew McKeon, Eoin P Flanagan, Sean J Pittock, Elizabeth B Habermann
PURPOSE: Paraneoplastic neurologic disease (PND) is an aberrant immune-mediated response against the nervous system triggered by malignancy. Given the rarity, a paucity of data describing breast cancer-related PND (BC-PND) exists; we sought to further examine this specific patient population. METHODS: We retrospectively identified patients at our institution from 1997 to 2016 with BC-PND. Retrospective review with a descriptive analysis determined factors associated with PND and BC, which were compared to national breast cancer median of age (61 years) and average stage at diagnosis (60% local disease)...
November 7, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29082296/b-cell-targeted-therapies-in-relapsing-forms-of-ms
#2
REVIEW
Divyanshu Dubey, Thomas Forsthuber, Eoin P Flanagan, Sean J Pittock, Olaf Stüve
In recent years, there has been a significant increase in the therapeutic options available for the management of relapsing forms of MS. Therapies primarily targeting B cells, including therapeutic anti-CD20 monoclonal antibodies, have been evaluated in phase I, phase II, and phase III clinical trials. Results of these trials have shown their efficacy and relatively tolerable adverse effect profiles, suggesting a favorable benefit-to-risk ratio. In this review, we discuss the pathogenic role of B cells in MS and the rationale behind the utilization of B-cell depletion as a therapeutic cellular option...
November 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29055902/lgi1-caspr2-and-related-antibodies-a-molecular-evolution-of-the-phenotypes
#3
REVIEW
Sophie N M Binks, Christopher J Klein, Patrick Waters, Sean J Pittock, Sarosh R Irani
Recent biochemical observations have helped redefine antigenic components within the voltage-gated potassium channel (VGKC) complex. The related autoantibodies may be now divided into likely pathogenic entities, which target the extracellular domains of leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2), and species that target intracellular neuronal components and are likely non-pathogenic. This distinction has enhanced clinical practice as direct determination of LGI1 and CASPR2 antibodies offers optimal sensitivity and specificity...
October 21, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29050399/diagnostic-criteria-for-chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-clippers
#4
W Oliver Tobin, Yong Guo, Karl N Krecke, Joseph E Parisi, Claudia F Lucchinetti, Sean J Pittock, Jay Mandrekar, Divyanshu Dubey, Jan Debruyne, B Mark Keegan
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a central nervous system inflammatory syndrome predominantly affecting the brainstem, cerebellum, and spinal cord. Following its initial description, the salient features of CLIPPERS have been confirmed and expanded upon, but the lack of formalized diagnostic criteria has led to reports of patients with dissimilar features purported to have CLIPPERS. We evaluated clinical, radiological and pathological features of patients referred for suspected CLIPPERS and propose diagnostic criteria to discriminate CLIPPERS from non-CLIPPERS aetiologies...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29030676/papillary-thyroid-carcinoma-ptc-in-children-and-adults-comparison-of-initial-presentation-and-long-term-postoperative-outcome-in-4432-patients-consecutively-treated-at-the-mayo-clinic-during-eight-decades-1936-2015
#5
Ian D Hay, Tammi R Johnson, Suneetha Kaggal, Megan S Reinalda, Nicole M Iniguez-Ariza, Clive S Grant, Siobhan T Pittock, Geoffrey B Thompson
BACKGROUND: Contemporary guidelines for managing PTC advise an approach wherein primary tumor and regional metastases (RM) are completely resected at first surgery and radioiodine remnant ablation (RRA) is restricted to high-risk patients, policies our group has long endorsed. To assess our therapeutic efficacy, we studied 190 children and 4242 adults consecutively treated during 1936-2015. SUBJECTS AND METHODS: Mean follow-up durations for children and adults were 26...
October 13, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28887083/pres-leading-to-the-diagnosis-of-mcardle-disease
#6
Jennifer M Martinez-Thompson, Sean J Pittock, Margherita Milone
A 35year-old male developed myalgias after moving furniture and was hospitalized with acute renal failure and rhabdomyolysis requiring hemodialysis. He then had several generalized tonic-clonic seizures. Brain MRI showed findings of posterior reversible encephalopathy syndrome (PRES). Interval history revealed easy fatigability and exercise-induced myalgias in childhood but no preceding history of urine discoloration. Quadriceps biopsy showed absent muscle myophosphorylase reactivity consistent with the diagnosis of McArdle disease...
December 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28766502/transient-neonatal-diabetes-due-to-a-mutation-in-kcnj11-in-a-child-with-klinefelter-syndrome
#7
Amanda Dahl, Radhika Dhamija, Alaa Al Nofal, Siobhan Pittock, Frederick Schwenk, Seema Kumar
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78 day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28761904/iglon5-antibody-neurological-accompaniments-and-outcomes-in-20-patients
#8
Josephe A Honorat, Lars Komorowski, Keith A Josephs, Kai Fechner, Erik K St Louis, Shannon R Hinson, Sabine Lederer, Neeraj Kumar, Avi Gadoth, Vanda A Lennon, Sean J Pittock, Andrew McKeon
OBJECTIVE: To describe the phenotypes, treatment response, and outcome of IgLON5 autoimmunity. METHODS: Archived serum and CSF specimens from 367 patients known to harbor unclassified antibodies which stained neural synapses diffusely (mimicking amphiphysin-IgG) were reevaluated by indirect immunofluorescence assay (IFA) using a composite of mouse tissues and recombinant IgLON5-transfected cell-based assay (CBA, Euroimmun). RESULTS: Available specimens (serum, 25; CSF, 9) from 26/367 patients (7%) had identical IFA appearance and robust IgLON5 CBA positivity...
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28687304/superior-shoulder-suspensory-complex-fracture-dislocation-case-report
#9
T Lidgett, E Bate, L Pittock
BACKGROUND: Acromioclavicular joint dislocation can be more complex than it first appears. The presented case had an unusual combination of injuries to the superior shoulder suspensory complex, which yielded some interesting learning points. CASE SUMMARY: The injuries were sustained after a fall from a push bike and included acromioclavicular dislocation with coracoid process, clavicle and acromion process fractures. These were identified on the initial X-ray examination, which was followed by computed tomography for surgical planning...
August 2017: Radiography
https://www.readbyqxmd.com/read/28642892/dacrystic-seizures-a-cry-for-help
#10
Avi Gadoth, Jaysingh Singh, Jeffrey W Britton, Eoin P Flanagan, Sean J Pittock
No abstract text is available yet for this article.
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28628235/expanded-phenotypes-and-outcomes-among-256-lgi1-caspr2-igg-positive-patients
#11
Avi Gadoth, Sean J Pittock, Divyanshu Dubey, Andrew McKeon, Jeff W Britton, John E Schmeling, Aurelia Smith, Amy L Kotsenas, Robert E Watson, Daniel H Lachance, Eoin P Flanagan, Vanda A Lennon, Christopher J Klein
OBJECTIVE: To describe an expanded phenotypic spectrum and longitudinal outcome in 256 LGI1-IgG-seropositive and/or CASPR2-IgG-seropositive patients. METHODS: Patients were identified through service neural autoantibody evaluation. Ninety-five had longitudinal follow-up (7-456 months; median = 35). RESULTS: Among 3,910 patients tested, 196 were LGI1-IgG positive, 51 were CASPR2-IgG positive, and 9 were dual positive. Cerebrospinal fluid testing was less sensitive than serum testing, detecting only 24 of 38 (63%) LGI1-IgG-positive and 5 of 6 (83%) CASPR2-IgG-positive patients...
July 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28570322/autoimmune-neurology-of-the-central-nervous-system
#12
W Oliver Tobin, Sean J Pittock
PURPOSE OF REVIEW: This article reviews the rapidly evolving spectrum of autoimmune neurologic disorders with a focus on those that involve the central nervous system, providing an understanding of how to approach the diagnostic workup of patients presenting with central nervous system symptoms or signs that could be immune mediated, either paraneoplastic or idiopathic, to guide therapeutic decision making. RECENT FINDINGS: The past decade has seen a dramatic increase in the discovery of novel neural antibodies and their targets...
June 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28555833/predictive-models-in-the-diagnosis-and-treatment-of-autoimmune-epilepsy
#13
Divyanshu Dubey, Jaysingh Singh, Jeffrey W Britton, Sean J Pittock, Eoin P Flanagan, Vanda A Lennon, Jan-Mendelt Tillema, Elaine Wirrell, Cheolsu Shin, Elson So, Gregory D Cascino, Dean M Wingerchuk, Matthew T Hoerth, Jerry J Shih, Katherine C Nickels, Andrew McKeon
OBJECTIVE: To validate predictive models for neural antibody positivity and immunotherapy response in epilepsy. METHODS: We conducted a retrospective study of epilepsy cases at Mayo Clinic (Rochester-MN; Scottsdale-AZ, and Jacksonville-FL) in whom autoimmune encephalopathy/epilepsy/dementia autoantibody testing profiles were requested (06/30/2014-06/30/2016). An Antibody Prevalence in Epilepsy (APE) score, based on clinical characteristics, was assigned to each patient...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28451627/disruption-of-the-leptomeningeal-blood-barrier-in-neuromyelitis-optica-spectrum-disorder
#14
Nasrin Asgari, Eoin P Flanagan, Kazuo Fujihara, Ho Jin Kim, Hanne P Skejoe, Jens Wuerfel, Hiroshi Kuroda, Su Hyun Kim, Elisabeth Maillart, Romain Marignier, Sean J Pittock, Friedemann Paul, Brian G Weinshenker
OBJECTIVE: To describe leptomeningeal blood-barrier impairment reflected by MRI gadolinium-enhanced lesions in patients with aquaporin-4 immunoglobulin G (AQP4-IgG)-positive neuromyelitis optica spectrum disorder (NMOSD). METHODS: A retrospective case series of 11 AQP4-IgG-positive NMOSD patients with leptomeningeal enhancement (LME) were collected from 5 centers. External neuroradiologists, blinded to the clinical details, evaluated MRIs. RESULTS: LME was demonstrated on postcontrast T1-weighted and fluid-attenuated inversion recovery images as a sign of leptomeningeal blood-barrier disruption and transient leakage of contrast agent into the subarachnoid space in 11 patients, 6 in the brain and 6 in the spinal cord...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28187806/diagnosis-and-management-of-spinal-cord-emergencies
#15
REVIEW
E P Flanagan, S J Pittock
Most spinal cord injury is seen with trauma. Nontraumatic spinal cord emergencies are discussed in this chapter. These myelopathies are rare but potentially devastating neurologic disorders. In some situations prior comorbidity (e.g., advanced cancer) provides a clue, but in others (e.g., autoimmune myelopathies) it may come with little warning. Neurologic examination helps distinguish spinal cord emergencies from peripheral nervous system emergencies (e.g., Guillain-Barré), although some features overlap...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28184993/pathogenic-implications-of-cerebrospinal-fluid-barrier-pathology-in-neuromyelitis-optica
#16
Yong Guo, Stephen D Weigand, Bogdan F Popescu, Vanda A Lennon, Joseph E Parisi, Sean J Pittock, Natalie E Parks, Stacey L Clardy, Charles L Howe, Claudia F Lucchinetti
Pathogenic autoantibodies associated with neuromyelitis optica (NMO) induce disease by targeting aquaporin-4 (AQP4) water channels enriched on astrocytic endfeet at blood-brain interfaces. AQP4 is also expressed at cerebrospinal fluid (CSF)-brain interfaces, such as the pial glia limitans and the ependyma and at the choroid plexus blood-CSF barrier. However, little is known regarding pathology at these sites in NMO. Therefore, we evaluated AQP4 expression, microglial reactivity, and complement deposition at pial and ependymal surfaces and in the fourth ventricle choroid plexus in 23 autopsy cases with clinically and/or pathologically confirmed NMO or NMO spectrum disorder...
April 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28120349/glial-fibrillary-acidic-protein-immunoglobulin-g-as-biomarker-of-autoimmune-astrocytopathy-analysis-of-102-patients
#17
Eoin P Flanagan, Shannon R Hinson, Vanda A Lennon, Boyan Fang, Allen J Aksamit, P Pearse Morris, Eati Basal, Josephe A Honorat, Nora B Alfugham, Jenny J Linnoila, Brian G Weinshenker, Sean J Pittock, Andrew McKeon
OBJECTIVE: A novel autoimmune central nervous system (CNS) disorder with glial fibrillary acidic protein (GFAP)-IgG as biomarker was recently characterized. Here, 102 patients with GFAP-IgG positivity are described. METHODS: The 102 included patients had: (1) serum, cerebrospinal fluid (CSF), or both that yielded a characteristic astrocytic pattern of mouse tissue immunostaining; (2) confirmation of IgG reactive with specific GFAP isoforms (α, ɛ, or κ) by cell-based assays; and (3) clinical data available...
February 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28097302/association-of-extension-of-cervical-cord-lesion-and-area-postrema-syndrome-with-neuromyelitis-optica-spectrum-disorder
#18
Divyanshu Dubey, Sean J Pittock, Karl N Krecke, Eoin P Flanagan
No abstract text is available yet for this article.
March 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28074593/microtubule-associated-protein-1b-novel-paraneoplastic-biomarker
#19
Avi Gadoth, Thomas J Kryzer, Jim Fryer, Andrew McKeon, Vanda A Lennon, Sean J Pittock
OBJECTIVE: To report the identification of microtubule-associated protein (MAP) 1B as the antigen of the previously described Purkinje cell cytoplasmic antibody type 2 (PCA-2) antibody, its frequency, and clinical, oncological, and serological associations. METHODS: Archival serum or cerebrospinal fluid (CSF) specimens were available from 96 of 118 consecutive PCA-2-IgG-seropositive patients identified during 1993-2016. The autoantigen, defined in mouse brain lysate by Western blot and mass spectrometry, was confirmed by dual immunohistochemical staining using commercial antibodies...
February 2017: Annals of Neurology
https://www.readbyqxmd.com/read/27913626/ring-enhancing-spinal-cord-lesions-in-neuromyelitis-optica-spectrum-disorders
#20
Nicholas L Zalewski, Padraig P Morris, Brian G Weinshenker, Claudia F Lucchinetti, Yong Guo, Sean J Pittock, Karl N Krecke, Timothy J Kaufmann, Dean M Wingerchuk, Neeraj Kumar, Eoin P Flanagan
OBJECTIVE: We assessed the frequency and characteristics of ring-enhancing spinal cord lesions in neuromyelitis optica spectrum disorder (NMOSD) myelitis and myelitis of other cause. METHODS: We reviewed spinal cord MRIs for ring-enhancing lesions from 284 aquaporin-4 (AQP4)-IgG seropositive patients at Mayo Clinic from 1996 to 2014. Inclusion criteria were as follows: (1) AQP4-IgG seropositivity, (2) myelitis attack and (3) MRI spinal cord demonstrating ring-enhancement...
March 2017: Journal of Neurology, Neurosurgery, and Psychiatry
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