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https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#1
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28619424/cerebrospinal-fluid-and-serum-levels-of-interleukin-8-in-patients-with-multiple-sclerosis-and-its-correlation-with-q-albumin
#2
Z Matejčíková, J Mareš, V Sládková, T Svrčinová, J Vysloužilová, J Zapletalová, P Kaňovský
INTRODUCTION: Multiple sclerosis (MS) is an inflammatory-demyelinating disease of the central nervous system (CNS). Autoimmune inflammation is common in the early stages of MS and is followed by neurodegenerative processes. The result of these changes is axon and myelin breakdown. The paraclinical examination methods are an important part of the diagnostic process. Magnetic resonance imaging of the brain and the cervical spinal cord and an examination of cerebrospinal fluid (CSF) are common paraclinical examinations...
May 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28615429/diagnostic-algorithm-for-relapsing-acquired-demyelinating-syndromes-in-children
#3
Yael Hacohen, Kshitij Mankad, W K Chong, Frederik Barkhof, Angela Vincent, Ming Lim, Evangeline Wassmer, Olga Ciccarelli, Cheryl Hemingway
OBJECTIVE: To establish whether children with relapsing acquired demyelinating syndromes (RDS) and myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) show distinctive clinical and radiologic features and to generate a diagnostic algorithm for the main RDS for clinical use. METHODS: A panel reviewed the clinical characteristics, MOG-Ab and aquaporin-4 (AQP4) Ab, intrathecal oligoclonal bands, and Epstein-Barr virus serology results of 110 children with RDS. A neuroradiologist blinded to the diagnosis scored the MRI scans...
June 14, 2017: Neurology
https://www.readbyqxmd.com/read/28607651/assessment-of-the-diagnostic-accuracy-of-double-inversion-recovery-sequence-compared-with-flair-and-t2w_tse-in-detection-of-cerebral-multiple-sclerosis-lesions
#4
Zahra Abidi, Fariborz Faeghi, Zahra Mardanshahi, Hasan Mortazavi
BACKGROUND: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system. MRI has an important role in early diagnosis of MS within diagnostic criteria. AIM: To determine the diagnostic value of the double inversion recovery (DIR) sequence in detection of brain MS lesions. METHODS: In this cross-sectional study, 55 patients were admitted to the MRI department in Vali-E-Asr Hospital in Qaemshahr, Iran, from May 2016 to February 2016...
April 2017: Electronic Physician
https://www.readbyqxmd.com/read/28604606/evaluation-of-visual-evoked-cerebral-metabolic-rate-of-oxygen-as-a-diagnostic-marker-in-multiple-sclerosis
#5
Nicholas A Hubbard, Yoel Sanchez Araujo, Camila Caballero, Minhui Ouyang, Monroe P Turner, Lyndahl Himes, Shawheen Faghihahmadabadi, Binu P Thomas, John Hart, Hao Huang, Darin T Okuda, Bart Rypma
A multiple sclerosis (MS) diagnosis often relies upon clinical presentation and qualitative analysis of standard, magnetic resonance brain images. However, the accuracy of MS diagnoses can be improved by utilizing advanced brain imaging methods. We assessed the accuracy of a new neuroimaging marker, visual-evoked cerebral metabolic rate of oxygen (veCMRO₂), in classifying MS patients and closely age- and sex-matched healthy control (HC) participants. MS patients and HCs underwent calibrated functional magnetic resonance imaging (cfMRI) during a visual stimulation task, diffusion tensor imaging, T₁- and T₂-weighted imaging, neuropsychological testing, and completed self-report questionnaires...
June 11, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28603465/spinal-cord-as-an-adjunct-to-brain-magnetic-resonance-imaging-in-defining-no-evidence-of-disease-activity-in-multiple-sclerosis
#6
Subhash Tummala, Tarun Singhal, Vinit V Oommen, Gloria Kim, Fariha Khalid, Brian C Healy, Rohit Bakshi
ACTIVITY AVAILABLE ONLINE: To access the article, post-test, and evaluation online, go to http://www.cmscscholar.org. TARGET AUDIENCE: The target audience for this activity is physicians, physician assistants, nursing professionals, and other health-care providers involved in the management of patients with multiple sclerosis (MS). LEARNING OBJECTIVES: 1) Describe the concept of "no evidence of disease activity" in MS.2) Recognize the role of spinal cord imaging in routine monitoring of MS disease activity...
May 2017: International Journal of MS Care
https://www.readbyqxmd.com/read/28550069/incidence-and-prevalence-of-nmosd-in-australia-and-new-zealand
#7
Wajih Bukhari, Kerri M Prain, Patrick Waters, Mark Woodhall, Cullen M O'Gorman, Laura Clarke, Roger A Silvestrini, Christine S Bundell, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Matthew Brown, Wallace J Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, Alan Coulthard, Russell C Dale, Chandi Das, Keith Dear, Marzena J Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P D Henderson, Saman Heshmat, Suzanne Hodgkinson, Sofia Jimenez-Sanchez, Trevor Killpatrick, John King, Christopher Kneebone, Andrew J Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christpher Lynch, Richard Macdonell, Deborah F Mason, Pamela A McCombe, Michael P Pender, Jennifer A Pereira, John D Pollard, Stephen W Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C Wong, Eppie M Yiu, Michael H Barnett, Allan G Kermode, Mark P Marriott, John D E Parratt, Mark Slee, Bruce V Taylor, Ernest Willoughby, Robert J Wilson, Angela Vincent, Simon A Broadley
OBJECTIVES: We have undertaken a clinic-based survey of neuromyelitis optica spectrum disorders (NMOSDs) in Australia and New Zealand to establish incidence and prevalence across the region and in populations of differing ancestry. BACKGROUND: NMOSD is a recently defined demyelinating disease of the central nervous system (CNS). The incidence and prevalence of NMOSD in Australia and New Zealand has not been established. METHODS: Centres managing patients with demyelinating disease of the CNS across Australia and New Zealand reported patients with clinical and laboratory features that were suspicious for NMOSD...
May 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28521618/markers-of-oxidative-nitrative-damage-of-plasma-proteins-correlated-with-edss-and-bdi-scores-in-patients-with-secondary-progressive-multiple-sclerosis
#8
Agnieszka Morel, Michał Bijak, Marta Niwald, Elżbieta Miller, Joanna Saluk
Objectives The objective of the present study was to evaluate oxidative/nitrative stress in the plasma of 50 patients suffering from the secondary progressive course of multiple sclerosis (MS), and to verify its correlation with physical and mental disability as assessed by the Expanded Disability Status Scale (EDSS), and the Beck Depression Inventory (BDI). Methods Oxidative and nitrative damage to proteins was determined by the level of carbonyl groups and 3-nitrotyrosine using ELISA test. Based on the reaction with Ellman's reagent, we estimated the concentration of oxidized thiol groups...
May 19, 2017: Redox Report: Communications in Free Radical Research
https://www.readbyqxmd.com/read/28477397/etiologies-of-acute-demyelinating-optic-neuritis-an-observational-study-of-110-patients
#9
R Deschamps, A Lecler, C Lamirel, J Aboab, A Gueguen, C Bensa, C Vignal, O Gout
BACKGROUND AND PURPOSE: New criteria for the diagnosis of multiple sclerosis (MS) and discovery of myelin oligodendrocyte glycoprotein (MOG) or aquaporin-4 (AQP4) antibodies (Abs) have changed the management of optic neuritis (ON). Our aim was to specify, in view of these recent advances, the etiologies of acute demyelinating ON for consecutive patients. METHODS: Retrospective database analysis was undertaken of consecutive adult patients with acute ON admitted from 1 December 2014 to 31 January 2016...
June 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28461111/validated-age-specific-reference-values-for-csf-total-protein-levels-in-children
#10
V Kahlmann, J Roodbol, N van Leeuwen, C R B Ramakers, D van Pelt, R F Neuteboom, C E Catsman-Berrevoets, M C Y de Wit, B C Jacobs
OBJECTIVE: To define age-specific reference values for cerebrospinal fluid (CSF) total protein levels for children and validate these values in children with Guillain-Barré syndrome (GBS), acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). METHODS: Reference values for CSF total protein levels were determined in an extensive cohort of diagnostic samples from children (<18 year) evaluated at Erasmus Medical Center/Sophia Children's Hospital...
April 8, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#11
J Manalac, S Sadd, G Akoghlanian, T Benoit-Clark
INTRODUCTION: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC. CASE: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28375911/trigeminal-neuralgia
#12
Giorgio Cruccu
PURPOSE OF REVIEW: Although trigeminal neuralgia is well known to neurologists, recent developments in classification and clinical diagnosis, new MRI methods, and a debate about surgical options necessitate an update on the topic. RECENT FINDINGS: Currently, a worldwide controversy exists regarding the classification, diagnostic process, and surgical treatment of trigeminal neuralgia. This controversy has been caused on one side by the recognition that some 50% of patients with trigeminal neuralgia, apart from characteristic paroxysmal attacks, also have continuous pain in the same territory, which results in greater diagnostic difficulties and is associated with a lower response to medical and surgical treatments...
April 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28364548/distinct-brain-imaging-characteristics-of-autoantibody-mediated-cns-conditions-and-multiple-sclerosis
#13
Maciej Jurynczyk, Ruth Geraldes, Fay Probert, Mark R Woodhall, Patrick Waters, George Tackley, Gabriele DeLuca, Saleel Chandratre, Maria I Leite, Angela Vincent, Jacqueline Palace
Brain imaging characteristics of MOG antibody disease are largely unknown and it is unclear whether they differ from those of multiple sclerosis and AQP4 antibody disease. The aim of this study was to identify brain imaging discriminators between those three inflammatory central nervous system diseases in adults and children to support diagnostic decisions, drive antibody testing and generate disease mechanism hypotheses. Clinical brain scans of 83 patients with brain lesions (67 in the training and 16 in the validation cohort, 65 adults and 18 children) with MOG antibody (n = 26), AQP4 antibody disease (n = 26) and multiple sclerosis (n = 31) recruited from Oxford neuromyelitis optica and multiple sclerosis clinical services were retrospectively and anonymously scored on a set of 29 predefined magnetic resonance imaging features by two independent raters...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28320130/spg2-mimicking-multiple-sclerosis-in-a-family-identified-using-next-generation-sequencing
#14
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico
Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28298841/etiological-profile-of-noncompressive-myelopathies-in-a-tertiary-care-hospital-of-northeast-india
#15
Ashok Kumar Kayal, Munindra Goswami, Marami Das, Lakhshya Jyoti Basumatary, Suvorit Subhas Bhowmick, Baiakmenlang Synmon
BACKGROUND: The discovery of antibodies against aquaporin-4 and evolving concepts of noncompressive myelopathies in the 21(st) century have made a major impact on the etiological profile of these diseases, with few cases turning out to be idiopathic. OBJECTIVE: To find causes of noncompressive myelopathy in a tertiary care hospital of Northeast India. MATERIALS AND METHODS: An observational study was carried out in the Neurology Department of Gauhati Medical College, Guwahati, from September 2013 to February 2016...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28271695/combined-use-of-kappa-free-light-chain-index-and-isoelectrofocusing-of-cerebro-spinal-fluid-in-diagnosing-multiple-sclerosis-performances-and-costs
#16
Ilaria Crespi, Maria Giovanna Sulas, Riccardo Mora, Paola Naldi, Domizia Vecchio, Cristoforo Comi, Roberto Cantello, Giorgio Bellomo
BACKGROUND: Isoelectrofocusing (IEF) to detect oligoclonal bands (OBCs) in cerebrospinal fluid (CSF) is the gold standard approach for evaluating intrathecal immunoglobulin synthesis in multiple sclerosis (MS) but the kappa free light chain index (KFLCi) is emerging as an alternative marker, and the combined/sequential uses of IEF and KFLCi have never been challenged. METHODS: CSF and serum albumin, IgG, kFLC and lFLC were measured by nephelometry; albumin, IgG and kFLC quotients as well as Link and kFLC indexes were calculated; OCBs were evaluated by immunofixation...
March 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28271642/large-scale-in-house-cell-based-assay-for-evaluating-the-serostatus-in-patients-with-neuromyelitis-optica-spectrum-disorder-based-on-new-diagnostic-criteria
#17
Yeseul Kim, Gayoung Kim, Byung Soo Kong, Ji Eun Lee, Yu Mi Oh, Jae Won Hyun, Su Hyun Kim, AeRan Joung, Byoung Joon Kim, Kyungho Choi, Ho Jin Kim
BACKGROUND AND PURPOSE: The detection of aquaporin 4-IgG (AQP4-IgG) is now a critical diagnostic criterion for neuromyelitis optica spectrum disorder (NMOSD). To evaluate the serostatus of NMOSD patients based on the 2015 new diagnostic criteria using a new in-house cell-based assay (CBA). METHODS: We generated a stable cell line using internal ribosome entry site-containing bicistronic vectors, which allow the simultaneous expression of two proteins (AQP4 and green fluorescent protein) separately from the same RNA transcript...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28166789/the-mrz-reaction-in-primary-progressive-multiple-sclerosis
#18
Tilman Hottenrott, Rick Dersch, Benjamin Berger, Sebastian Rauer, Daniela Huzly, Oliver Stich
BACKGROUND: The MRZ reaction (MRZR), composed of the three antibody indices (AI) against measles, rubella and varicella zoster virus and found positive in the majority of relapsing-remitting multiple sclerosis (RRMS) patients, is absent in other inflammatory neurological diseases (OIND). So far, it has been uncertain whether its differential diagnostic promise extends to patients with primary-progressive multiple sclerosis (PPMS). OBJECTIVE: To investigate the prevalence of MRZR in PPMS compared to RRMS and OIND patients...
February 7, 2017: Fluids and Barriers of the CNS
https://www.readbyqxmd.com/read/28102419/towards-encoded-particles-for-highly-multiplexed-colorimetric-point-of-care-autoantibody-detection
#19
Gustav Svedberg, Yunjin Jeong, Hunjong Na, Jisung Jang, Peter Nilsson, Sunghoon Kwon, Jesper Gantelius, Helene Andersson Svahn
Highly multiplexed point of care tests could improve diagnostic accuracy and differential diagnostic capacity in for instance emergency medicine and low resource environments. Available technology platforms for POC biomarker detection are typically simplex or low-plexed, whereas common lab-based microarray systems allow for the simultaneous detection of thousands of DNA or protein biomarkers. In this study, we demonstrate a novel suspension particle array platform that utilizes 900 μm bricks for POC amenable colorimetric biomarker detection with an encoding capacity of over two million...
January 19, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/28005176/the-mrz-reaction-as-a-highly-specific-marker-of-multiple-sclerosis-re-evaluation-and-structured-review-of-the-literature
#20
REVIEW
S Jarius, P Eichhorn, D Franciotta, H F Petereit, G Akman-Demir, M Wick, B Wildemann
BACKGROUND: It has long been known that the majority of patients with multiple sclerosis (MS) display an intrathecal, polyspecific humoral immune response to a broad panel of neurotropic viruses. This response has measles virus, rubella virus and varicella zoster virus as its most frequent constituents and is thus referred to as the MRZ reaction (MRZR). OBJECTIVE: Re-evaluation of the specificity of MRZR as a marker of MS. METHODS: Structured review of the existing English-, German- and Spanish-language literature on MRZR testing, with evaluation of MRZR in a cohort of 43 unselected patients with MS and other neurological diseases as a proof of principle...
March 2017: Journal of Neurology
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