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https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27999526/cme-cne-article-a-framework-of-care-in-multiple-sclerosis-part-1-updated-disease-classification-and-disease-modifying-therapy-use-in-specific-circumstances
#11
Scott D Newsome, Philip J Aliotta, Jacquelyn Bainbridge, Susan E Bennett, Gary Cutter, Kaylan Fenton, Fred Lublin, Dorothy Northrop, David Rintell, Bryan D Walker, Megan Weigel, Kathleen Zackowski, David E Jones
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: Apply new information about MS to a comprehensive individualized treatment plan for patients with MSIntegrate the team approach into long-term planning in order to optimize rehabilitation care of patients with MSAccreditation Statement: This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the Consortium of Multiple Sclerosis Centers (CMSC), Nurse Practitioner Alternatives (NPA), and Delaware Media Group...
November 2016: International Journal of MS Care
https://www.readbyqxmd.com/read/27994897/progressive-multifocal-leukoencephalopathy-in-a-multiple-sclerosis-patient-diagnosed-after-switching-from-natalizumab-to-fingolimod
#12
Tim Sinnecker, Jalal Othman, Marc Kühl, Imke Metz, Thoralf Niendorf, Annett Kunkel, Friedemann Paul, Jens Wuerfel, Juergen Faiss
Background. Natalizumab- (NTZ-) associated progressive multifocal leukoencephalopathy (PML) is a severe and often disabling infectious central nervous system disease that can become evident in multiple sclerosis (MS) patients after NTZ discontinuation. Recently, novel diagnostic biomarkers for the assessment of PML risk in NTZ treated MS patients such as the anti-JC virus antibody index have been reported, and the clinical relevance of milky-way lesions detectable by MRI has been discussed. Case Presentation and Conclusion...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27951522/brain-lesion-distribution-criteria-distinguish-ms-from-aqp4-antibody-nmosd-and-mog-antibody-disease
#13
Maciej Juryńczyk, George Tackley, Yazhuo Kong, Ruth Geraldes, Lucy Matthews, Mark Woodhall, Patrick Waters, Wilhelm Kuker, Matthew Craner, Andrew Weir, Gabriele C DeLuca, Stephane Kremer, Maria Isabel Leite, Angela Vincent, Anu Jacob, Jérôme de Sèze, Jacqueline Palace
IMPORTANCE: Neuromyelitis optica spectrum disorders (NMOSD) can present with very similar clinical features to multiple sclerosis (MS), but the international diagnostic imaging criteria for MS are not necessarily helpful in distinguishing these two diseases. OBJECTIVE: This multicentre study tested previously reported criteria of '(1) at least 1 lesion adjacent to the body of the lateral ventricle and in the inferior temporal lobe; or (2) the presence of a subcortical U-fibre lesion or (3) a Dawson's finger-type lesion' in an independent cohort of relapsing-remitting multiple sclerosis (RRMS) and AQP4-ab NMOSD patients and also assessed their value in myelin oligodendrocyte glycoprotein (MOG)-ab positive and ab-negative NMOSD...
February 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27919493/eleven-episodes-of-recurrent-optic-neuritis-of-the-same-eye-for-22-years-eventually-diagnosed-as-neuromyelitis-optica-spectrum-disorder
#14
Yih Chian Yew, Jyh Yung Hor, Thien Thien Lim, Ruban Kanesalingam, Yee Ming Ching, Masita Arip, P E Samuel Easaw, Gaik Bee Eow
It is difficult to predict whether a particular attack of neuromyelitis optica spectrum disorder (NMOSD) will affect the optic nerve [optic neuritis (ON): unilateral or bilateral], spinal cord (myelitis), brain or brainstem, or a combination of the above. We report an interesting case of recurrent ON of the same eye for a total of 11 episodes in a Chinese woman. Over a period of 22 years, the attacks only involved the left eye, and never the right eye and also no myelitis. For a prolonged duration, she was diagnosed as recurrent idiopathic ON...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27911122/an-update-on-the-use-of-cerebrospinal-fluid-analysis-as-a-diagnostic-tool-in-multiple-sclerosis
#15
Matteo Gastaldi, Elisabetta Zardini, Diego Franciotta
Intrathecal B-lymphocyte activation is a hallmark of multiple sclerosis (MS), a multi-factorial inflammatory-demyelinating disease of the central nervous system. Such activation has a counterpart in the cerebrospinal fluid (CSF) oligoclonal IgG bands (OCB), whose diagnostic role in MS has been downgraded within the current McDonald's criteria. With a theoretico-practical approach, the authors review the physiopathological basis of the CSF dynamics, and the state-of-the-art of routine CSF analysis and CSF biomarkers in MS...
January 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27900420/nmr-based-metabolomic-approach-to-study-urine-samples-of-chronic-inflammatory-rheumatic-disease-patients
#16
Alessia Vignoli, Donatella Maria Rodio, Anna Bellizzi, Anatoly Petrovich Sobolev, Elena Anzivino, Monica Mischitelli, Leonardo Tenori, Federico Marini, Roberta Priori, Rossana Scrivo, Guido Valesini, Ada Francia, Manuela Morreale, Maria Rosa Ciardi, Marco Iannetta, Cristiana Campanella, Donatella Capitani, Claudio Luchinat, Valeria Pietropaolo, Luisa Mannina
The nuclear magnetic resonance (NMR)-based metabolomic approach was used as analytical methodology to study the urine samples of chronic inflammatory rheumatic disease (CIRD) patients. The urine samples of CIRD patients were compared to the ones of both healthy subjects and patients with multiple sclerosis (MS), another immuno-mediated disease. Urine samples collected from 39 CIRD patients, 25 healthy subjects, and 26 MS patients were analyzed using (1)H NMR spectroscopy, and the NMR spectra were examined using partial least squares-discriminant analysis (PLS-DA)...
November 30, 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27889190/diagnosis-of-multiple-sclerosis-progress-and-challenges
#17
REVIEW
Wallace J Brownlee, Todd A Hardy, Franz Fazekas, David H Miller
The diagnosis of multiple sclerosis is based on neurological symptoms and signs, alongside evidence of dissemination of CNS lesions in space and time. MRI is often sufficient to confirm the diagnosis when characteristic lesions accompany a typical clinical syndrome, but in some patients, further supportive information is obtained from cerebrospinal fluid examination and neurophysiological testing. Differentiation is important from other diseases in which demyelination is a feature (eg, neuromyelitis optica spectrum disorder and acute disseminated encephalomyelitis) and from non-demyelinating disorders such as chronic small vessel disease and other inflammatory, granulomatous, infective, metabolic, and genetic causes that can mimic multiple sclerosis...
April 1, 2017: Lancet
https://www.readbyqxmd.com/read/27844213/b-cell-directed-therapeutics-in-multiple-sclerosis-rationale-and-clinical-evidence
#18
REVIEW
Silke Kinzel, Martin S Weber
Over the last decade, evidence condensed that B cells, B cell-derived plasma cells and antibodies play a key role in the pathogenesis and progression of multiple sclerosis (MS). In many patients with MS, peripheral B cells show signs of chronic activation; within the cerebrospinal fluid clonally expanded plasma cells produce oligoclonal immunoglobulins, which remain a hallmark diagnostic finding. Confirming the clinical relevance of these immunological alterations, recent trials testing anti-CD20-mediated depletion of peripheral B cells showed an instantaneous halt in development of new central nervous system lesions and occurrence of relapses...
December 2016: CNS Drugs
https://www.readbyqxmd.com/read/27812765/-esped-survey-tsc-disease-in-children-and%C3%A2-adolescents-preliminary-results-from-a%C3%A2-german%C3%A2-epidemiological-survey
#19
Lilian Mann, Daniel Ebrahimi-Fakhari, Beate Heinrich, Marina Flotats-Bastardas, Ludwig Gortner, Alexander von Gontard, Justine Niemcyzk, Martin Poryo, Sascha Meyer
BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3...
November 3, 2016: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27792827/evaluation-of-transiently-evoked-otoacoustic-emissions-and-auditory-brainstem-responses-in-patients-with-multiple-sclerosis
#20
Emre Kaytancı, O Ilkay Ozdamar, Gul Ozbilen Acar, Muhammet Tekin
Multiple sclerosis (MS) is an inflammatory and demyelinating disease of the central nervous system. This prospective study was planned to evaluate these changes through brainstem evoked response audiometry (BERA) latency abnormalities and otoacoustic emissions (OAE). This study was performed between September 2009 and May 2010. A total of 160 recordings of BERA and OAE were examined, which were obtained from 80 ears of 40 participants. Twenty of these were MS patients and 20 were healthy volunteers in the control group...
October 2016: Ear, Nose, & Throat Journal
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