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Diagnostic test and multiple sclerosis

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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
#1
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
#2
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...
December 2, 2016: 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
#3
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
#4
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...
November 23, 2016: Lancet
https://www.readbyqxmd.com/read/27844213/b-cell-directed-therapeutics-in-multiple-sclerosis-rationale-and-clinical-evidence
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/27773545/cadasil-mimicking-multiple-sclerosis-the-importance-of-clinical-and-mri-red-flags
#8
Stuti Joshi, Wayne Yau, Allan Kermode
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura, behavioural disturbance and cognitive decline. We report two patients with CADASIL masquerading as multiple sclerosis (MS). A 23year old female presented with a visual scotoma and was discovered to have a corresponding retinal cotton wool spot. MRI brain revealed diffuse T2 hyperintensities suggestive of demyelination...
October 20, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27744392/effects-of-longterm-treatment-with-bosentan-and-iloprost-on-nailfold-absolute-capillary-number-fingertip-blood-perfusion-and-clinical-status-in-systemic-sclerosis
#9
Amelia Chiara Trombetta, Carmen Pizzorni, Barbara Ruaro, Sabrina Paolino, Alberto Sulli, Vanessa Smith, Maurizio Cutolo
OBJECTIVE: To quantify in patients with systemic sclerosis (SSc) the absolute nailfold capillary number/mm (the absolute number of capillaries, observable in the first row, in 1 mm per field) and fingertip blood perfusion (FBP) during longterm therapy with the endothelin receptor antagonist bosentan (BOSE) and the synthetic analog of prostacyclin PGI2 iloprost (ILO) by multiple diagnostic tools. Observed values were correlated with clinical outcomes. METHODS: Thirty patients with SSc already receiving intravenous ILO (80 μg/day) for 5 continuous days (every 3 mos) were recruited in the clinic...
October 1, 2016: Journal of Rheumatology
https://www.readbyqxmd.com/read/27712110/cadasil-and-multiple-sclerosis-a-case-report-of-prolonged-misdiagnosis
#10
Dominic A Carone
Cerebral autosomal dominant arteriopathy and subcortical ischemic leukoencephalopathy (CADASIL) is sometimes misdiagnosed as multiple sclerosis (MS). MS and CADASIL are not known to co-occur and brain magnetic resonance imagining (MRI) findings can help with differential diagnosis. Despite the availability of this information, a case report is presented of a 61-year-old woman who was misdiagnosed with MS at age 50, tested positive for CADASIL at age 56, described incorrectly as having both conditions simultaneously, and continued on MS disease-modifying medications, resulting in financial and physical hardship...
August 11, 2016: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/27636381/a-lateral-flow-immunoassay-with-upconverting-nanoparticle-based-detection-for-indirect-measurement-of-interferon-response-by-the-level-of-mxa
#11
Etvi Juntunen, Teppo Salminen, Sheikh M Talha, Iida Martiskainen, Tero Soukka, Kim Pettersson, Matti Waris
Myxovirus resistance protein A (MxA) is a biomarker of interferon-induced gene expression state involved in many viral infections and some autoimmune disorders. It has a variety of potential utilities in clinical diagnostics, including distinguishing between bacterial and viral infections. Currently, MxA-assays are used for monitoring of IFN-β therapy in multiple sclerosis (MS) patients. As a proof-of-concept for rapid quantitative measurement of interferon response, a lateral flow immunoassay (LFIA) with upconverting nanoparticle (UCNP) reporters was developed and evaluated with clinical whole blood samples to assess the potential for a rapid and user-friendly quantitative assay for MxA, since the currently available rapid test for MxA (FebriDX) produces only qualitative result...
September 16, 2016: Journal of Medical Virology
https://www.readbyqxmd.com/read/27572859/acute-disseminated-encephalomyelitis-updates-on-an-inflammatory-cns-syndrome
#12
Daniela Pohl, Gulay Alper, Keith Van Haren, Andrew J Kornberg, Claudia F Lucchinetti, Silvia Tenembaum, Anita L Belman
Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating CNS disorder with predilection to early childhood. ADEM is generally considered a monophasic disease. However, recurrent ADEM has been described and defined as multiphasic disseminated encephalomyelitis. ADEM often occurs postinfectiously, although a causal relationship has never been established. ADEM and multiple sclerosis are currently viewed as distinct entities, generally distinguishable even at disease onset. However, pathologic studies have demonstrated transitional cases of yet unclear significance...
August 30, 2016: Neurology
https://www.readbyqxmd.com/read/27566747/contribution-of-the-symptomatic-lesion-in-establishing-ms-diagnosis-and-prognosis
#13
Mar Tintore, Susana Otero-Romero, Jordi Río, Georgina Arrambide, Berta Pujal, Carmen Tur, Ingrid Galán, Manuel Comabella, Carlos Nos, María Jesús Arévalo, Angela Vidal-Jordana, Joaquin Castilló, Breogán Rodríguez-Acevedo, Luciana Midaglia, Raquel Mitjana, Cristina Auger, Jaume Sastre-Garriga, Àlex Rovira, Xavier Montalban
OBJECTIVE: To study the contribution of the symptomatic lesion in establishing multiple sclerosis (MS) diagnosis and prognosis. METHODS: We performed an observational study based on a prospective clinically isolated syndrome (CIS) cohort of 1,107 patients recruited for clinical and brain MRI follow-up from 1995 to 2014. Eligible patients (n = 954) were divided into 4 groups according to baseline MRI: patients with a normal MRI (n = 290); patients with a single asymptomatic lesion (n = 18); patients with a single cord/brainstem symptomatic lesion (n = 35); and patients with more than 1 lesion (n = 611)...
September 27, 2016: Neurology
https://www.readbyqxmd.com/read/27528268/an-in-vitro-diagnostic-for-multiple-sclerosis-based-on-c-peptide-binding-to-erythrocytes
#14
Sarah Y Lockwood, Suzanne Summers, Eric Eggenberger, Dana M Spence
OBJECTIVE: To investigate the utility of a blood-based lab test as an aid in identifying patients with Multiple Sclerosis (MS). METHODS: Whole blood from subjects with MS, non-MS neurologic diseases, and healthy controls was centrifuged to isolate erythrocytes. Following the addition of exogenous C-peptide, the supernatant was assayed for remaining C-peptide using an enzyme linked immunosorbent assay (ELISA). RESULTS: The cohort included subjects with MS (n=86), other non-MS neurologic diseases (OND n=75), and healthy controls (n=39)...
September 2016: EBioMedicine
https://www.readbyqxmd.com/read/27494614/predictive-big-data-analytics-a-study-of-parkinson-s-disease-using-large-complex-heterogeneous-incongruent-multi-source-and-incomplete-observations
#15
Ivo D Dinov, Ben Heavner, Ming Tang, Gustavo Glusman, Kyle Chard, Mike Darcy, Ravi Madduri, Judy Pa, Cathie Spino, Carl Kesselman, Ian Foster, Eric W Deutsch, Nathan D Price, John D Van Horn, Joseph Ames, Kristi Clark, Leroy Hood, Benjamin M Hampstead, William Dauer, Arthur W Toga
BACKGROUND: A unique archive of Big Data on Parkinson's Disease is collected, managed and disseminated by the Parkinson's Progression Markers Initiative (PPMI). The integration of such complex and heterogeneous Big Data from multiple sources offers unparalleled opportunities to study the early stages of prevalent neurodegenerative processes, track their progression and quickly identify the efficacies of alternative treatments. Many previous human and animal studies have examined the relationship of Parkinson's disease (PD) risk to trauma, genetics, environment, co-morbidities, or life style...
2016: PloS One
https://www.readbyqxmd.com/read/27492899/s100a8-a9-from-basic-science-to-clinical-application
#16
Monika Pruenster, Thomas Vogl, Johannes Roth, Markus Sperandio
Neutrophils and monocytes belong to the first line of immune defence cells and are recruited to sites of inflammation during infection or sterile injury. Both cells contain huge amounts of the heterodimeric protein S100A8/A9 in their cytoplasm. S100A8/A9 belongs to the Ca(2+) binding S100 protein family and has recently gained a lot of interest as a critical alarm in modulating the inflammatory response after its release (extracellular S100A8/A9) from neutrophils and monocytes. Extracellular S100A8/A9 interacts with the pattern recognition receptors Toll-like receptor 4 (TLR4) and Receptor for Advanced Glycation Endproducts (RAGE) promoting cell activation and recruitment...
August 1, 2016: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27411232/causality-analysis-of-inertial-body-sensors-for-multiple-sclerosis-diagnostic-enhancement
#17
Jiaqi Gong, Yanjun Qi, Myla D Goldman, John Lach
Inertial body sensors have emerged in recent years as an effective tool for evaluating mobility impairment resulting from various diseases, disorders, and injuries. For example, body sensors have been used in 6-min walk (6 MW) tests for multiple sclerosis (MS) patients to identify gait features useful in the study, diagnosis, and tracking of the disease. However, most studies to date have focused on features localized to the lower or upper extremities and do not provide a holistic assessment of mobility. This paper presents a causality analysis method focused on the coordination between extremities to identify subtle whole-body mobility impairment that may aid disease diagnosis...
September 2016: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/27408382/rare-occurrence-of-3-h-hypercalcemia-hemolytic-anemia-and-hodgkin-s-lymphoma
#18
Ankur Jain, Pankaj Malhotra, Gaurav Prakash, Subhash Varma, Narender Kumar, Asim Das
Clinicians in hematology practice commonly encounter anemia, hypercalcemia and renal failure, which when present in combination evoke a diagnostic workup for multiple myeloma. We report a 71-years old lady who presented to our hematology clinic with fever and easy fatiguability of 3 months duration and on investigations was found to have anemia and hypercalcemia. Direct Coomb's test characterized the anemia as complement mediated (anti-C3d) hemolysis. Biochemical investigations revealed normal 25(OH) Vitamin D3 and suppressed Parathormone levels and a negative workup for plasma cell dyscrasias, sarcoidosis and autoimmune disorders...
June 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27400686/from-animal-models-to-human-disease-a-genetic-approach-for-personalized-medicine-in-als
#19
REVIEW
Vincent Picher-Martel, Paul N Valdmanis, Peter V Gould, Jean-Pierre Julien, Nicolas Dupré
Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10 % of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others...
July 11, 2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27364001/four-dimensional-flow-magnetic-resonance-imaging-and-ultrasound-assessment-of-cerebrospinal-venous-flow-in-multiple-sclerosis-patients-and-controls
#20
Eric M Schrauben, Sarah Kohn, Jacob Macdonald, Kevin M Johnson, Mark Kliewer, Sam Frost, John O Fleming, Oliver Wieben, Aaron Field
A possibly causal relationship between multiple sclerosis and chronic cerebrospinal venous insufficiency has recently been hypothesized. Studies investigating chronic cerebrospinal venous insufficiency have reported conflicting results and few have employed multiple diagnostic imaging modalities across a large patient and control population. In this study, three complementary imaging modalities were used to investigate the chronic cerebrospinal venous insufficiency hypothesis in patients with multiple sclerosis and two age- and sex-matched control groups: healthy volunteers and patients with other neurological diseases...
June 30, 2016: Journal of Cerebral Blood Flow and Metabolism
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