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https://www.readbyqxmd.com/read/29782307/cutaneous-manifestations-of-tuberous-sclerosis
#1
Mirjana Bakić, Marina Ratković, Branka Gledović, Balsa Vujović, Danilo Radunović, Vera Babić, Vladimir Prelević
Dear Editor, Tuberous sclerosis (TS) is an autosomal dominant multisystem disease, which occurs due to genetically determined hyperplasia of ectodermal and mesodermal cells. Clinical manifestations present on the skin and in the nervous system, kidneys, heart, and other organs. Recent studies estimate the incidence of TS at 1/6000 to 1/10,000 live births, and a prevalence in the general population of approximately 1 in 20,000 (1). There are two different genetic loci responsible for TS: 9q34 (TSC1-hamartin) and 16p13...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29754046/brain-stiffens-post-mortem
#2
J Weickenmeier, M Kurt, E Ozkaya, R de Rooij, T C Ovaert, R L Ehman, K Butts Pauly, E Kuhl
Alterations in brain rheology are increasingly recognized as a diagnostic marker for various neurological conditions. Magnetic resonance elastography now allows us to assess brain rheology repeatably, reproducibly, and non-invasively in vivo. Recent elastography studies suggest that brain stiffness decreases one percent per year during normal aging, and is significantly reduced in Alzheimer's disease and multiple sclerosis. While existing studies successfully compare brain stiffnesses across different populations, they fail to provide insight into changes within the same brain...
April 22, 2018: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/29716788/aquaporin-4-and-myelin-oligodendrocyte-glycoprotein-autoantibody-status-predict-outcome-of-recurrent-optic-neuritis
#3
Jiraporn Jitprapaikulsan, John J Chen, Eoin P Flanagan, W Oliver Tobin, Jim P Fryer, Brian G Weinshenker, Andrew McKeon, Vanda A Lennon, Jacqueline A Leavitt, Jan-Mendelt Tillema, Claudia Lucchinetti, B Mark Keegan, Orhun Kantarci, Cheryl Khanna, Sarah M Jenkins, Grant M Spears, Jessica Sagan, Sean J Pittock
PURPOSE: To determine the aquaporin-4 and myelin oligodendrocyte glycoprotein (MOG) immunoglobulin G (IgG) serostatus and visual outcomes in patients with recurrent optic neuritis (rON) initially seeking treatment. DESIGN: Cross-sectional cohort study. PARTICIPANTS: The study identified patients by searching the Mayo Clinic computerized central diagnostic index (January 2000-March 2017). The 246 eligible patients fulfilled the following criteria: (1) initially seeking treatment for at least 2 consecutive episodes of optic neuritis (ON) and (2) serum available for testing...
April 28, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29673575/classification-and-diagnostic-criteria-for-demyelinating-diseases-of-the-central-nervous-system-where-do-we-stand-today
#4
REVIEW
G Mathey, M Michaud, S Pittion-Vouyovitch, M Debouverie
The diagnosis of multiple sclerosis (MS) and other demyelinating diseases of the central nervous system is challenging, and although the currently available biological and imaging tools offer considerable support to physicians, these tools often fail to provide a simple and final answer at the time of a first event. Thus, sets of diagnostic criteria have been published and tested on patient cohorts, and are now used in clinical trials and in daily clinical practice. These criteria have evolved over time to take into account physicians' and patients' needs, along with emerging paraclinical tests...
April 16, 2018: Revue Neurologique
https://www.readbyqxmd.com/read/29665225/objective-and-quantitative-equilibriometric-evaluation-of-individual-locomotor-behaviour-in-schizophrenia-translational-and-clinical-implications
#5
Svetlozar Haralanov, Evelina Haralanova, Emil Milushev, Diana Shkodrova, Claus-Frenz Claussen
Psychiatry is the only medical specialty that lacks clinically applicable biomarkers for objective evaluation of the existing pathology at a single-patient level. On the basis of an original translational equilibriometric method for evaluation of movement patterns, we have introduced in the everyday clinical practice of psychiatry an easy-to-perform computerized objective quantification of the individual locomotor behaviour during execution of the Unterberger stepping test. For the last 20 years, we have gradually collected a large database of more than 1000 schizophrenic patients, their relatives, and matched psychiatric, neurological, and healthy controls via cross-sectional and longitudinal investigations...
April 17, 2018: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/29655487/frequency-of-aquaporin-4-immunoglobulin-g-in-longitudinally-extensive-transverse-myelitis-with-antiphospholipid-antibodies
#6
Hilda Guerra, Sean J Pittock, Kevin G Moder, James P Fryer, Avi Gadoth, Eoin P Flanagan
Antiphospholipid (aPL) antibodies have historically been postulated to cause a poorly understood inflammatory myelitis. Neuromyelitis optica spectrum disorder (NMOSD) causes an inflammatory longitudinally extensive transverse myelitis (LETM). In 2004, aquaporin-4 immunoglobulin G (AQP4-IgG) was first reported as a highly specific (>99%) serum diagnostic biomarker of NMOSD, distinguishing it from other disorders (eg, multiple sclerosis). We sought to assess the frequency of AQP4-IgG (and thus NMOSD diagnosis) in LETM with aPL antibodies...
April 11, 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29554927/mog-igg-in-primary-and-secondary-chronic-progressive-multiple-sclerosis-a-multicenter-study-of-200-patients-and-review-of-the-literature
#7
S Jarius, K Ruprecht, J P Stellmann, A Huss, I Ayzenberg, A Willing, C Trebst, M Pawlitzki, A Abdelhak, T Grüter, F Leypoldt, J Haas, I Kleiter, H Tumani, K Fechner, M Reindl, F Paul, B Wildemann
BACKGROUND: Antibodies to human full-length myelin oligodendrocyte glycoprotein (MOG-IgG) as detected by new-generation cell-based assays have recently been described in patients presenting with acute demyelinating disease of the central nervous system, including patients previously diagnosed with multiple sclerosis (MS). However, only limited data are available on the relevance of MOG-IgG testing in patients with chronic progressive demyelinating disease. It is unclear if patients with primary progressive MS (PPMS) or secondary progressive MS (SPMS) should routinely be tested for MOG-IgG...
March 19, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29472384/neuropsychological-testing
#8
EDITORIAL
Chiara Zucchella, Angela Federico, Alice Martini, Michele Tinazzi, Michelangelo Bartolo, Stefano Tamburin
Neuropsychological testing is a key diagnostic tool for assessing people with dementia and mild cognitive impairment, but can also help in other neurological conditions such as Parkinson's disease, stroke, multiple sclerosis, traumatic brain injury and epilepsy. While cognitive screening tests offer gross information, detailed neuropsychological evaluation can provide data on different cognitive domains (visuospatial function, memory, attention, executive function, language and praxis) as well as neuropsychiatric and behavioural features...
February 22, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29414408/the-utility-of-motor-unit-number-estimation-methods-versus-quantitative-motor-unit-potential-analysis-in-diagnosis-of-als
#9
A B Jacobsen, R S Kristensen, A Witt, A G Kristensen, L Duez, S Beniczky, A Fuglsang-Frederiksen, H Tankisi
OBJECTIVE: To compare the diagnostic utility of motor unit number estimation (MUNE) methods to motor unit potential (MUP) analysis in amyotrophic lateral sclerosis (ALS). METHODS: Twenty-five patients (1 definite, 11 probable, 9 possible ALS and 4 progressive muscular atrophy) and 22 healthy controls were prospectively included. Quantitative MUP analysis and three MUNE methods; Multiple Point Stimulation MUNE (MPS), Motor Unit Number Index (MUNIX) and MScanFit MUNE (MScan) were done in abductor pollicis brevis muscle...
March 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29408796/search-for-new-biomarkers-of-pediatric-multiple-sclerosis-application-of-immunoglobulin-free-light-chain-analysis
#10
Esther Ganelin-Cohen, Sizilia Golderman, Regina Yeskaraev, Ayal Rozenberg, Avi Livneh, Batia Kaplan
BACKGROUND: Identifying new biomarkers is needed to overcome the diagnostic difficulties of pediatric multiple sclerosis (MS). Recently, we developed a new technique including CSF analysis of free light chain (FLC) monomers and dimers, which can improve diagnosis of adult MS. The present study has been designed to evaluate the utility of our technique for MS diagnosis in children. METHODS: Patients with MS (n=21) and non-MS demyelinating or inflammatory neurological disorders (n=35) participated in the study...
February 6, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29392642/impairment-of-acquired-color-vision-in-multiple-sclerosis-an-early-diagnostic-sign-linked-to-the-greatness-of-disease
#11
Anna Piro, Antonio Tagarelli, Giuseppe Nicoletti, Sara Scannapieco, Serena Polidoro, Paola Valentino, Aldo Quattrone
OBJECTIVE: To assess the type and degree of both red-green and blue-yellow color vision deficiencies of Calabrian males affected by multiple sclerosis. MATERIAL: Eighty Calabrian male patients were enrolled (age range 18-70 years; mean age 40.6 ± 12.4 years) showing a disease duration mean of 10.6 ± 8.2 years (range = 0.5-46 years) coming from the Institute of Neurology, Magna Graecia University, Catanzaro. Optic neuritis present in the medical histories of the 21 patients does not influence color vision...
February 1, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29384802/optimal-intereye-difference-thresholds-in-retinal-nerve-fiber-layer-thickness-for-predicting-a-unilateral-optic-nerve-lesion-in-multiple-sclerosis
#12
Rachel C Nolan, Steven L Galetta, Teresa C Frohman, Elliot M Frohman, Peter A Calabresi, Carmen Castrillo-Viguera, Diego Cadavid, Laura J Balcer
BACKGROUND: The optic nerve is a frequent site for involvement in multiple sclerosis (MS). Optical coherence tomography (OCT) detects thinning of the retinal nerve fiber layer (RNFL) in eyes of patients with MS and in those meeting criteria for clinically or radiologically isolated demyelinating syndromes. Current international diagnostic criteria for MS do not include the optic nerve as an imaging lesion site despite the high prevalence of acute optic neuritis (ON), or occult optic neuropathy, among early MS and clinically isolated syndrome patients; as well as most MS patients over the course of the disease...
January 29, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29367170/application-of-the-2015-diagnostic-criteria-for-neuromyelitis-optica-spectrum-disorders-in-a-cohort-of-latin-american-patients
#13
E Carnero Contentti, I Soto de Castillo, V Daccach Marques, P A López, A Antunes Barreira, E Armas, C de Aquino Cruz, A Rubstein, C Lavigne Moreira, O M Molina, A Soto, V Tkachuk
BACKGROUND: The 2015 International Panel for neuromyelitis optica (NMO) spectrum disorders (NMOSD) diagnosis (IPND) criteria was recently proposed. However, because there are no studies evaluating application of the IPND criteria in Latin American populations, we aimed to assess whether these new criteria improve the diagnostic rate and reduce the time taken to make the diagnosis in a cohort of Latin American patients. METHODS: We reviewed medical records and applied both the 2006 and 2015 diagnostic criteria to all patients seen in four centers in Argentina, Brazil and Venezuela...
February 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29346446/osteopontin-opn-as-a-csf-and-blood-biomarker-for-multiple-sclerosis-a-systematic-review-and-meta-analysis
#14
REVIEW
Elmira Agah, Arshia Zardoui, Amene Saghazadeh, Mona Ahmadi, Abbas Tafakhori, Nima Rezaei
Identifying a reliable biomarker may accelerate diagnosis of multiple sclerosis (MS) and lead to early management of the disease. Accumulating evidence suggest that cerebrospinal fluid (CSF) and peripheral blood concentration of osteopontin (OPN) may have diagnostic and prognostic value in MS. We conducted a systematic review and meta-analysis of studies that measured peripheral blood and CSF levels of OPN in MS patients and controls to evaluate the diagnostic potential of this biomarker better. We searched PubMed, Web of Science and Scopus databases to find articles that measured OPN concentration in peripheral blood and CSF samples from MS patients up to October 19, 2016...
2018: PloS One
https://www.readbyqxmd.com/read/29168666/diagnostic-methods-used-in-searching-for-markers-of-atrophy-in-patients-with-multiple-sclerosis
#15
Przemyslaw Puz, Arkadiusz Steposz, Anetta Lasek-Bal, Karina Bartoszek, Patrycja Radecka, Aleksandra Karuga-Pierścieńska
The results of available studies on assessment of neurodegenerative lesions in multiple sclerosis (MS) patients using different approaches have not been conclusive. Currently, clinical assessment is the most commonly used (involving primarily mobility assessment), along with magnetic resonance imaging and electrophysiological testing. In this review we describe available clinical, neuroimaging, electrophysiological and laboratory tests used to assess the neurodegeneration in MS. Laboratory markers to determine the risk of disease, its conversion and prognosis in MS patients are being constantly sought...
February 2018: Neurological Research
https://www.readbyqxmd.com/read/29150726/tspo-imaging-using-the-novel-pet-ligand-18-f-ge-180-quantification-approaches-in-patients-with-multiple-sclerosis
#16
Lena Vomacka, Nathalie Lisa Albert, Simon Lindner, Marcus Unterrainer, Christoph Mahler, Matthias Brendel, Larissa Ermoschkin, Astrid Gosewisch, Anika Brunegraf, Christopher Buckley, Tania Kümpfel, Rainer Rupprecht, Sibylle Ziegler, Martin Kerschensteiner, Peter Bartenstein, Guido Böning
BACKGROUND: PET ligands targeting the translocator protein (TSPO) represent promising tools to visualise neuroinflammation. Here, we analysed parameters obtained in dynamic and static PET images using the novel TSPO ligand [18 F]GE-180 in patients with relapsing remitting multiple sclerosis (RRMS) and an approach for semi-quantitative assessment of this disease in clinical routine. Seventeen dynamic [18 F]GE-180 PET scans of RRMS patients were evaluated (90 min). A pseudo-reference region (PRR) was defined after identification of the least disease-affected brain area by voxel-based comparison with six healthy controls (HC) and upon exclusion of voxels suspected of being affected in static 60-90 min p...
October 26, 2017: EJNMMI Research
https://www.readbyqxmd.com/read/29136628/incidence-of-multiple-sclerosis-in-germany-a-cohort-study-applying-different-case-definitions-based-on-claims-data
#17
Niklas Schmedt, Laura Khil, Klaus Berger, Oliver Riedel
BACKGROUND: Data on the incidence of multiple sclerosis (MS) on the national level is scarce. We aimed to estimate the incidence of MS in Germany and to compare different MS case definitions based on claims data. METHODS: We conducted a cohort study with the German Pharmacoepidemiological Research Database in 2012 and calculated age- and gender-standardized incidence rates (sIRs) for 3 case definitions. In addition, the effect of stepwise reduction of the look-back period without MS diagnosis on the incidence rate was evaluated...
2017: Neuroepidemiology
https://www.readbyqxmd.com/read/29041867/patient-selection-for-trials
#18
Jerry S Wolinsky
The last several decades have witnessed considerable progress in our understanding of the pathogenesis, refining diagnostic criteria, and identifying therapies of value for modifying the course of relapsing forms of multiple sclerosis. While the pace of progress has lagged for those with progressive phase disease, this now seems to be changing. This review considers those characteristics of patients with primary progressive multiple sclerosis that may contribute to phase 3 trial success and identifies some of the thorny issues that remain ahead...
October 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28979793/application-of-the-mcdonald-criteria-in-latin-america
#19
REVIEW
Liliana Patrucco
The diagnosis of multiple sclerosis (MS) is based on neurological symptoms and signs, alongside evidence of dissemination of central nervous system (CNS) lesions in space and time. In the absence of a sensitive and specific diagnostic test, diagnostic criteria are needed for diagnosing MS. The caveat to the application of the McDonald criteria is that alternative diagnoses must be excluded. The prevalence, clinical phenotype and the differential diagnosis of MS may have variations in different populations, especially in Latin America (LATAM)...
July 2017: Multiple Sclerosis Journal—Experimental, Translational and Clinical
https://www.readbyqxmd.com/read/28941527/pediatric-optic-neuritis
#20
Melinda Y Chang, Stacy L Pineles
Optic neuritis is rare in children in comparison to adults, but accounts for approximately 25% of pediatric acute demyelinating syndromes. Features of pediatric optic neuritis that differ from adults include a higher rate of bilaterality, poor visual acuity on presentation, and papillitis. Diagnostic work-up includes brain magnetic resonance imaging, lumbar puncture, and blood tests to exclude infectious and inflammatory disorders. Pediatric optic neuritis may occur following infection or vaccination, or in association with a systemic demyelinating process such as acute disseminated encephalomyelitis, neuromyelitis optica, or multiple sclerosis...
May 2017: Seminars in Pediatric Neurology
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