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https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#1
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28093711/clinical-neurophysiology-of-multiple-sclerosis
#2
Mario Habek, Ivan Adamec, Barbara Barun, Luka Crnošija, Tereza Gabelić, Magdalena Krbot Skorić
Different neurophysiological methods such as evoked potentials (EP), testing of the autonomic nervous system (ANS) or polysomnography have the potential to detect clinically silent lesions or to confirm the existence of an association between a clinical symptom and multiple sclerosis (MS); previously undetected by MRI. Therefore, in the most recent MRI criteria for the diagnosis of MS (MAGNIMS consensus guidelines), neurophysiological confirmation of optic nerve dysfunction (slowed conduction on visual EP), support dissemination in space and, in patients without concurrent visual symptoms, dissemination in time...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28088365/stem-cells-for-als-an-overview-of-possible-therapeutic-approaches
#3
REVIEW
Joanna Czarzasta, Aleksandra Habich, Tomasz Siwek, Adam Czapliński, Wojciech Maksymowicz, Joanna Wojtkiewicz
Amyotrophic lateral sclerosis (ALS) is an unusual, fatal, neurodegenerative disorder leading to the loss of motor neurons. After diagnosis, the average lifespan ranges from 3 to 5 years, and death usually results from respiratory failure. Although the pathogenesis of ALS remains unclear, multiple factors are thought to contribute to the progression of ALS, such as network interactions between genes, environmental exposure, impaired molecular pathways and many others. The neuroprotective properties of neural stem cells (NSCs) and the paracrine signaling of mesenchymal stem cells (MSCs) have been examined in multiple pre-clinical trials of ALS with promising results...
January 11, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28080255/assessing-long-term-prognosis-improvement-as-a-consequence-of-treatment-pattern-changes-in-ms
#4
Ruggero Capra, Cinzia Cordioli, Sarah Rasia, Fabio Gallo, Alessio Signori, Maria Pia Sormani
OBJECTIVE: To assess whether the age at which multiple sclerosis (MS) patients reach Expanded Disability Status Scale (EDSS) milestones changed as long as new drugs for the treatment of MS became available. METHODS: We evaluated the long-term impact of therapies on disability progression assessing whether there is a detectable delay in the age at which patients reached EDSS milestones in more recent years. We used data collected over more than 30 years in the Center of Brescia, Italy...
January 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28078563/changes-in-first-line-injectable-disease-modifying-therapy-for-multiple-sclerosis-predictors-of-non-adherence-switching-discontinuation-and-interruption-of-drugs
#5
Luca Degli Esposti, Carlo Piccinni, Diego Sangiorgi, Valentina Perrone, Lucia Aledda, Maria Giovanna Marrosu, Fabio Lombardo
This study was aimed to describe changes of Disease-Modifying Treatments (DMT) in an Italian cohort of patients with multiple sclerosis (MS) and to identify predictors of therapeutic modifications. Patients with MS and treated with the first-line injectable DMT (interferons-IFNs or glatiramer) between 1/7/2009 and 31/10/2012 were selected from administrative databases of the MS Center of Cagliari (Sardinia, Italy). Socio-demographic, therapeutic, and clinical information was collected in the 6 months preceding the index date...
January 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28078314/onset-of-secondary-progressive-ms-after-long-term-rituximab-therapy-a-case-report
#6
H-Christian von Büdingen, Antje Bischof, Erica L Eggers, Shengzhi Wang, Carolyn J Bevan, Bruce A C Cree, Roland G Henry, Stephen L Hauser
A patient with relapsing multiple sclerosis (RMS) was treated with a standard immunomodulatory therapy, but due to ongoing disease activity was switched to rituximab. Relapses ceased, but secondary progressive MS (SPMS) eventually appeared, associated with new focal spinal cord white matter lesions. Cerebrospinal fluid (CSF) showed persistent oligoclonal bands (OCB) and clonally related B cells in CSF and peripheral blood. The treatment escalation approach failed to prevent evolution to SPMS, raising the question of whether initiation of B-cell depleting therapy at the time of RMS diagnosis should be tested to more effectively address the immune pathology leading to SPMS...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28076964/trigeminal-neuralgia-diagnosis-and-treatment
#7
Stine Maarbjerg, Giulia Di Stefano, Lars Bendtsen, Giorgio Cruccu
Introduction Trigeminal neuralgia (TN) is characterized by touch-evoked unilateral brief shock-like paroxysmal pain in one or more divisions of the trigeminal nerve. In addition to the paroxysmal pain, some patients also have continuous pain. TN is divided into classical TN (CTN) and secondary TN (STN). Etiology and pathophysiology Demyelination of primary sensory trigeminal afferents in the root entry zone is the predominant pathophysiological mechanism. Most likely, demyelination paves the way for generation of ectopic impulses and ephaptic crosstalk...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28074391/etiologic-spectrum-and-functional-outcome-of-the-acute-inflammatory-myelitis
#8
Edgar Carnero Contentti, Javier Pablo Hryb, Ana Diego, José Luis Di Pace, Mónica Perassolo
Clinical, neuroimaging, and laboratory features are not specific enough to establish the etiological diagnosis of the acute inflammatory myelitis (AIM). Longitudinally extensive transverse myelitis (LETM) seen on magnetic resonance imaging (MRI) has been associated with a poor functional prognosis. The aim of this study was to assess the functional outcomes of a first AIM event comparing patients with LETM vs. no LETM on MRI and to report the differential diagnosis. Clinical, radiological, biochemical aspects were collected, and Winner-Hughes Functional Disability Scale (WHFDS) was performed after 3 and 6 months...
January 10, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28061362/developing-easy-to-perform-routine-mri-measurements-as-potential-surrogates-for-cognitive-impairment-in-ms
#9
Sarah A Morrow, Suresh Menon, Heather Rosehart, Manas Sharma
OBJECTIVES: One of the most frequently disabling symptoms in Multiple Sclerosis (MS) is cognitive impairment which is often insidious in onset and therefore difficult to recognize in the early stages, for both persons with MS and clinicians. A biomarker that would help identify those at risk of cognitive impairment, or with only mild impairment, would be a useful tool for clinicians. Using MRI, already an integral tool in the diagnosis and monitoring of disease activity in MS, would be ideal...
December 29, 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28060988/-neuromyelitis-optica-presenting-concomitantly-with-systemic-lupus-erythematosus-report-of-one-case
#10
Felipe Suárez H, Daniela Urrutia E, Felipe Canales P, Camila Gutiérrez O
Neuromyelitis optica (NMO) is a severe demyelinating disease of the central nervous system, which preferentially attacks the optic nerve and spinal cord. It is associated with antibodies against aquaporin 4. Morbidity and mortality are higher than in multiple sclerosis and its treatment focuses on immunosuppressive drugs. Immunomodulators are contraindicated. We report a previously healthy 35-year-old man, presenting with NMO concomitantly with systemic lupus erythematosus. His evolution was torpid with three outbreaks in the 10 months after the diagnosis, requiring a first-line therapy with methylprednisolone and cyclophosphamide and then a second-line therapy with rituximab...
September 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28058855/the-first-year-after-diagnosis-psychological-impact-on-people-with-multiple-sclerosis
#11
M F Possa, E Minacapelli, S Canale, G Comi, V Martinelli, M Falautano
The impact of multiple sclerosis (MS) diagnosis on newly diagnosed individuals remains so far little explored. Our aim is to outline affective, personality and quality of life (QoL) correlates of MS patients shortly after MS diagnosis. Thirty-eight (22 F and 16 M) newly-diagnosed MS patients (mean interval from diagnosis communication 4.7 ± 3.8 months, range 1-12 months) underwent the Montgomery-Åsberg Depression Rating Scale and a comprehensive psychological evaluation: Beck Depression Inventory-II, State-Trait Anxiety Inventory, Psychophysiological Questionnaire-Revised, Fear Survey Schedule, Maudsley Obsessional-Compulsive Questionnaire, Impact of Event Scale-Revised, Personal Meaning Questionnaire, Problem Solving Inventory and Multiple Sclerosis Quality of Life-54...
January 6, 2017: Psychology, Health & Medicine
https://www.readbyqxmd.com/read/28056103/healthcare-costs-for-treating-relapsing-multiple-sclerosis-and-the-risk-of-progression-a-retrospective-italian-cohort-study-from-2001-to-2015
#12
Marcello Moccia, Raffaele Palladino, Roberta Lanzillo, Antonio Carotenuto, Cinzia Valeria Russo, Maria Triassi, Vincenzo Brescia Morra
BACKGROUND: Disease modifying treatments (DMTs) are the main responsible for direct medical costs in multiple sclerosis (MS). The current investigation aims at evaluating possible associations between healthcare costs for treating relapsing remitting MS (RRMS) and disease evolution. METHODS: The present cohort study retrospectively included 544 newly diagnosed RRMS patients, prospectively followed up for 10.1±3.3 years. Costs for DMT administration and management were calculated for each year of observation...
2017: PloS One
https://www.readbyqxmd.com/read/28055081/soluble-cd27-levels-in-cerebrospinal-fluid-as-a-prognostic-biomarker-in-clinically-isolated-syndrome
#13
Roos M van der Vuurst de Vries, Julia Y Mescheriakova, Tessel F Runia, Naghmeh Jafari, Theodora A M Siepman, Rogier Q Hintzen
Importance: There is a growing number of therapies that could be administered after the first symptom of central nervous system demyelination. These drugs can delay multiple sclerosis (MS) diagnosis and slow down future disability. However, treatment of patients with benign course may not be needed; therefore, there is a need for biomarkers to predict long-term prognosis in patients with clinically isolated syndrome (CIS). Objective: To investigate whether the T-cell activation marker soluble CD27 (sCD27) measured in cerebrospinal fluid of patients at time of a first attack is associated with a subsequent diagnosis of MS and a higher relapse rate...
January 3, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28053559/systemic-lupus-erythematosus-and-pulmonary-arterial-hypertension-links-risks-and-management-strategies
#14
REVIEW
Konstantinos Tselios, Dafna D Gladman, Murray B Urowitz
Systemic lupus erythematosus (SLE) is characterized by the second highest prevalence of pulmonary arterial hypertension (PAH), after systemic sclerosis, among the connective tissue diseases. SLE-associated PAH is hemodynamically defined by increased mean pulmonary artery pressure at rest (≥25 mmHg) with normal pulmonary capillary wedge pressure (≤15 mmHg) and increased pulmonary vascular resistance. Estimated prevalence ranges from 0.5% to 17.5% depending on the diagnostic method used and the threshold of right ventricular systolic pressure in studies using transthoracic echocardiogram...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28046971/th-cd-206-01-expectation-maximization-algorithm-based-tissue-mixture-quantification-for-perfusion-mri
#15
H Han, Z Liang, L Li, L Xing
PURPOSE: To investigate the feasibility of estimating the tissue mixture perfusions and quantifying cerebral blood flow change in arterial spin labeled (ASL) perfusion MR images. METHODS: The proposed perfusion MR image analysis framework consists of 5 steps: (1) Inhomogeneity correction was performed on the T1- and T2-weighted images, which are available for each studied perfusion MR dataset. (2) We used the publicly available FSL toolbox to strip off the non-brain structures from the T1- and T2-weighted MR images...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28035846/employment-and-absenteeism-in-working-age-persons-with-multiple-sclerosis
#16
Amber Salter, Nina Thomas, Tuula Tyry, Gary Cutter, Ruth Ann Marrie
AIMS: To better understand the impact of the clinical course of multiple sclerosis (MS) and disability on employment, absenteeism, and related factors. MATERIALS AND METHODS: We included respondents to the North American Research Committee on Multiple Sclerosis Registry spring 2015 update survey who were United States or Canadian residents, aged 18-65 years and reported having relapsing-remitting MS (RRMS), secondary progressive MS (SPMS), or primary progressive MS (PPMS)...
December 30, 2016: Journal of Medical Economics
https://www.readbyqxmd.com/read/28018853/mri-flair-lesion-segmentation-in-multiple-sclerosis-does-automated-segmentation-hold-up-with-manual-annotation
#17
Christine Egger, Roland Opfer, Chenyu Wang, Timo Kepp, Maria Pia Sormani, Lothar Spies, Michael Barnett, Sven Schippling
INTRODUCTION: Magnetic resonance imaging (MRI) has become key in the diagnosis and disease monitoring of patients with multiple sclerosis (MS). Both, T2 lesion load and Gadolinium (Gd) enhancing T1 lesions represent important endpoints in MS clinical trials by serving as a surrogate of clinical disease activity. T2- and fluid-attenuated inversion recovery (FLAIR) lesion quantification - largely due to methodological constraints - is still being performed manually or in a semi-automated fashion, although strong efforts have been made to allow automated quantitative lesion segmentation...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28017424/predictors-of-long-term-visual-outcome-in-intermediate-uveitis
#18
Rachael L Niederer, Lazha Sharief, Asaf Bar, Sue L Lightman, Oren Tomkins-Netzer
PURPOSE: To describe factors that predict visual loss and complications in intermediate uveitis. DESIGN: Cross-sectional study. PARTICIPANTS: Subjects with intermediate uveitis were identified from a database of 1254 uveitis patients seen in the clinic of a single consultant (S.L.L.) between 2011 and 2013. METHODS: Information was gathered from the clinical notes of all subjects examined in clinic. MAIN OUTCOME MEASURES: Best-corrected visual acuity (BCVA), moderate visual loss (MVL; ≤20/50), severe visual loss (SVL; ≤20/200)...
December 22, 2016: Ophthalmology
https://www.readbyqxmd.com/read/28017257/autosomal-recessive-cerebellar-ataxia-type-1-mimicking-multiple-sclerosis-a-report-of-two-siblings-with-a-novel-mutation-in-syne1-gene-in-a-saudi-family
#19
Hussein Algahtani, Yousef Marzouk, Raghad Algahtani, Sali Salman, Bader Shirah
Autosomal Recessive Cerebellar Ataxia type 1 (ARCA1), also known as recessive ataxia of Beauce, is an adult onset pure cerebellar ataxia that typically presents with cerebellar ataxia and/or dysarthria. A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein. It was first reported in 2007 as the first identified gene responsible for a recessively inherited pure cerebellar ataxia. In this article, we are presenting two brothers with ARCA1 who were misdiagnosed and treated as multiple sclerosis for more than a decade...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28017256/treatment-of-neuromyelitis-optica-and-neuromyelitis-optica-spectrum-disorders-with-rituximab-using-a-maintenance-treatment-regimen-and-close-cd19-b-cell-monitoring-a-six-year-follow-up
#20
M E Evangelopoulos, E Andreadou, G Koutsis, V Koutoulidis, M Anagnostouli, P Katsika, D S Evangelopoulos, I Evdokimidis, C Kilidireas
Neuromyelitis optinca (NMO) represents a serious demyelinating disease of the central nervous system selectively attacking the spinal cord and optic nerve. Early differential diagnosis from multiple sclerosis is of vital importance, as NMO mandates immunosuppressive and not immunomodulatory treatment. Rituximab has been recently introduced as a treatment option for NMO. However, optimal surrogate measures and treatment intervals are still unclear. Five patients (females, mean age 54±10.21years) with NMO and NMO spectrum disorders (NMOSD) were evaluated with respect to disability and relapse rate...
January 15, 2017: Journal of the Neurological Sciences
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