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Diagnostic test and multiple sclerosis

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
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
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
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
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
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
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
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
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
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
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
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...
2016: Acta Neuropathologica Communications
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
J J Chen, F Carletti, V Young, D Mckean, G Quaghebeur
Diagnosing multiple sclerosis (MS) can be very challenging owing to its variable clinical features and lack of a definitive test. Magnetic resonance imaging (MRI) is a core diagnostic tool in the detection of MS lesions and demonstration of spatial and temporal distribution of disease. Moreover, MRI plays a crucial role in the exclusion of alternative diagnoses of MS. The aim of this review is to describe the typical MRI features of MS and to present a series of common mimics of MS with emphasis on their distinguishing features from MS...
September 2016: Clinical Radiology
Giorgio Cruccu, Nanna B Finnerup, Troels S Jensen, Joachim Scholz, Marc Sindou, Peter Svensson, Rolf-Detlef Treede, Joanna M Zakrzewska, Turo Nurmikko
Trigeminal neuralgia (TN) is an exemplary condition of neuropathic facial pain. However, formally classifying TN as neuropathic pain based on the grading system of the International Association for the Study of Pain is complicated by the requirement of objective signs confirming an underlying lesion or disease of the somatosensory system. The latest version of the International Classification of Headache Disorders created similar difficulties by abandoning the term symptomatic TN for manifestations caused by major neurologic disease, such as tumors or multiple sclerosis...
July 12, 2016: Neurology
Felicitas Strehlow, Sandra Bauer, Peter Martus, Michael Weller, Patrick Roth, Uwe Schlegel, Sabine Seidel, Carmen Scheibenbogen, Agnieszka Korfel, Stephan Kreher
Central nervous system lymphoma (CNSL) is diagnostically challenging. The identification of reliable and easy to measure biomarkers is desirable to facilitate diagnosis. Here, we evaluated the value of cerebrospinal fluid (CSF) osteopontin (OPN) as a diagnostic biomarker for CNSL. OPN concentrations in CSF from 37 patients with CNSL (29 with primary CNSL and 8 with secondary CNS involvement of systemic lymphoma) and 36 controls [6 patients with inflammatory CNS disease other than multiple sclerosis (MS), 8 with MS, 9 with glioblastoma (GBM) and 13 healthy controls] were determined using an enzyme-linked immunosorbent assay...
August 2016: Journal of Neuro-oncology
John C Kingswood, Pamela Crawford, Simon R Johnson, Julian R Sampson, Charles Shepherd, Dirk Demuth, Clement Erhard, Paola Nasuti, Keyur Patel, Melissa Myland, Alun Pinnegar, Matthew Magestro, Elizabeth Gray
BACKGROUND: Tuberous sclerosis complex (TSC) is a multi-system genetic disorder characterized by the development of diverse clinical manifestations. The complexity of this disease is likely to result in substantial challenges and costs in disease management throughout the patient's lifetime. This retrospective database study aims to quantify healthcare resources utilized by TSC patients. METHODS: TSC patients in the Clinical Practice Research Datalink linked to the Hospital Episodes Statistics database were identified between January 1987 and June 2013...
June 8, 2016: Journal of Medical Economics
Bedia Samanci, Pınar Tektürk, Erdem Tüzün, Ece Erdağ, Demet Kınay, Zuhal Yapıcı, Betül Baykan
Rasmussen's encephalitis (RE) is a rare disease with unknown pathophysiology. To disclose whether anti-neuronal autoimmunity participates in the aetiology of RE, various neuronal autoantibodies (NAAbs) were investigated in sera of patients with RE and controls. The study included five patients who fulfilled the RE diagnostic criteria (clinical, EEG, and MRI findings) as the patient group, and 50 multiple sclerosis patients and 50 healthy subjects as the control groups. Sera were evaluated for various NAAbs by radioimmunoassay or cell-based assays...
June 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Hyewon Chung, Jiseon Kim, Ryoungsun Park, Alyssa M Bamer, Fraser D Bocell, Dagmar Amtmann
PURPOSE: The University of Washington Self-Efficacy Scale (UW-SES) was originally developed for people with multiple sclerosis (MS) and spinal cord injury (SCI). This study evaluates the measurement invariance of the 6-item short form of the UW-SES across four disability subgroups. Evidence of measurement invariance would extend the UW-SES for use in two additional diagnostic groups: muscular dystrophy (MD) and post-polio syndrome (PPS). METHODS: Multi-group confirmatory factor analysis was used to evaluate successive levels of measurement invariance of the 6-item short form, the UW-SES: (a) configural invariance, i...
October 2016: Quality of Life Research
Veeravich Jaruvongvanich, Ittikorn Spanuchart, Pichaya O-Charoen, Christian Kitamura, Lauren Sumida, Marina Roytman
Multiple myeloma typically presents as lytic bony lesions, hypercalcemia, anemia, and renal failure. Extraosseous manifestations are rare. We report on a patient who was recently diagnosed with multiple myeloma and completed the first cycle of bortezomib, dexamethasone, and palliative radiation therapy with good response. Two weeks after discharge, she became confused and was re-admitted. Despite treatment with lactulose and rifaximin, altered mental status worsened. Computer tomographic scan of abdomen showed hepatomegaly and numerous ill-defined small hyperdense nodules scattered throughout the liver...
April 2016: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
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