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Asma Javed, Zaraq Khan, Siobhan T Pittock, Jani R Jensen
Fertility preservation therapies can conserve future reproductive potential for persons facing serious medical diagnoses. With cure rates for childhood cancer reaching almost 80%, quality-of-life concerns for long-term survivors, including future parenting, are becoming more pertinent. Late effects of childhood cancer can be divided into physical, social, psychological, and spiritual domains. Potential loss of fertility threatens the well-being of these children in all these domains. Providers often hesitate to discuss fertility preservation with the patients...
March 2018: Pediatric Endocrinology Reviews: PER
John J Chen, W Oliver Tobin, Masoud Majed, Jiraporn Jitprapaikulsan, James P Fryer, Jacqueline A Leavitt, Eoin P Flanagan, Andrew McKeon, Sean J Pittock
Importance: Autoantibodies to aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) are recently established biomarkers of autoimmune optic neuritis whose frequency and accompanying phenotype, especially for MOG-IgG, are still being characterized. The Optic Neuritis Treatment Trial (ONTT) was a well-known randomized clinical trial in optic neuritis; therefore, knowledge of the serostatus and accompanying phenotype of these patients would be useful to determine the frequency of these antibodies in patients presenting with typical monocular optic neuritis and their outcomes...
February 22, 2018: JAMA Ophthalmology
Shannon R Hinson, A Sebastian Lopez-Chiriboga, James H Bower, Joseph Y Matsumoto, Anhar Hassan, Eati Basal, Vanda A Lennon, Sean J Pittock, Andrew McKeon
Background: Glycine receptor alpha-1 subunit (GlyRα1)-immunoglobulin G (IgG) is diagnostic of stiff-person syndrome (SPS) spectrum but has been reported detectable in other neurologic diseases for which significance is less certain. Methods: To assess GlyRα1-IgGs as biomarkers of SPS spectrum among patients and controls, specimens were tested using cell-based assays (binding [4°C] and modulating [antigen endocytosing, 37°C]). Medical records of seropositive patients were reviewed...
March 2018: Neurology® Neuroimmunology & Neuroinflammation
Kari M Gurtner, Eslam Shosha, Sandra C Bryant, Bruna D Andreguetto, David L Murray, Sean J Pittock, Maria Alice V Willrich
BACKGROUND: Cerebrospinal fluid (CSF) used in immunoglobulin gamma (IgG) index testing and oligoclonal bands (OCBs) are common laboratory tests used in the diagnosis of multiple sclerosis. The measurement of CSF free light chains (FLC) could pose as an alternative to the labor-intensive isoelectric-focusing (IEF) gels used for OCBs. METHODS: A total of 325 residual paired CSF and serum specimens were obtained after physician-ordered OCB IEF testing. CSF kappa (cKFLC) and lambda FLC (cLFLC), albumin and total IgG were measured...
February 19, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
Nora Alfugham, Avi Gadoth, Vanda A Lennon, Lars Komorowski, Madeleine Scharf, Shannon Hinson, Andrew McKeon, Sean J Pittock
No abstract text is available yet for this article.
January 2018: Neurology® Neuroimmunology & Neuroinflammation
Jason R Fredriksen, Carrie M Carr, Kelly K Koeller, Jared T Verdoorn, Avi Gadoth, Sean J Pittock, Amy L Kotsenas
PURPOSE: Glutamic acid decarboxylase (GAD65) has been implicated in a number of autoimmune-associated neurologic syndromes, including autoimmune epilepsy. This study categorizes the spectrum of MRI findings in patients with a clinical diagnosis of autoimmune epilepsy and elevated serum GAD65 autoantibodies. METHODS: An institutional database search identified patients with elevated serum GAD65 antibodies and a clinical diagnosis of autoimmune epilepsy who had undergone brain MRI...
March 2018: Neuroradiology
Divyanshu Dubey, Vanda A Lennon, Avi Gadoth, Sean J Pittock, Eoin P Flanagan, John E Schmeling, Andrew McKeon, Christopher J Klein
OBJECTIVE: To establish the phenotype and clinical outcomes of collapsin response-mediator protein-5 (CRMP5) autoimmune neuropathy in comparison with anti-neuronal nuclear antibody type 1 (ANNA1)-immunoglobulin G (IgG) neuropathy. METHODS: Patients with CRMP5-IgG and/or ANNA1-IgGs were identified in our service-line testing, and medical records were reviewed. RESULTS: One hundred five patients with CRMP5-IgG neuropathy (88% smokers; 69% having cancer, most commonly small cell lung cancer [75%]) were identified and compared to 51 patients with ANNA1-IgG neuropathy, 27 with coexisting CRMP5-IgG...
January 9, 2018: Neurology
John J Chen, Allen J Aksamit, Andrew McKeon, Sean J Pittock, Brian G Weinshenker, Jacqueline A Leavitt, Padraig P Morris, Eoin P Flanagan
BACKGROUND: Glial fibrillary acidic protein (GFAP) autoantibody-positive meningoencephalitis is a newly described entity characterized by a corticosteroid-responsive meningoencephalomyelitis. Some patients with GFAP autoantibody-positive meningoencephalitis have been found to have optic disc edema, which has previously not been well characterized. METHODS: We performed a retrospective, observational case series of Mayo Clinic patients found to have GFAP-IgG and optic disc edema from January 1, 2000, to December 31, 2016...
November 21, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Eslam Shosha, Sean J Pittock, Eoin Flanagan, Brian G Weinshenker
Neuromyelitis optica spectrum disorders (NMOSD) predominantly affect women who are of childbearing age. Understanding the interactions between pregnancy and NMOSD is important for clinical management. Aquaporin-4 (AQP4), the most common target antigen in NMOSD, is expressed on placenta in early pregnancy. A variety of immune and cytokine changes in pregnancy may impact pregnancy outcomes in NMOSD patients. Relapses continue during pregnancy and increase in frequency postpartum. Preeclampsia and fetal loss are more frequent in NMOSD than in controls...
December 2017: Multiple Sclerosis: Clinical and Laboratory Research
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
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
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
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
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
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
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
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
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
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
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
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