1,720,961 research outputs found
Multiple Sclerosis and Neurofibromatosis type1: case report
No full textINTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Reckligausen disease is characterized by multiple café au-lait spots and skin neurofibromas, and is caused by abnormal activity of the tumor suppressor gene NF1. The association of neurofibromatosis with multiple sclerosis (MS) has been rarely described, more frequently in patients with primary progressive MS. CASE REPORT: We describe a 36 year old woman diagnosed with Neurofibromatosis type 1 in childhood. She showed congenital cafà ̈-au-lait spots, Lisch nodules of the iris, axillary freckles and cutaneous neurofibromas. At the age of 27, as part of investigations related to the underlying disease, she performed a brain MRI, which showed focal demyelination. At the age of 34 she developed paresthesias to the right emisoma and right-hand dystonia. The brain and cervical spine MRI showed demyelinating areas both in the brain and in the spinal cord. Two oligoclonal bands were found in the CSF. Blood and CSF examination for other autoimmune diseases (Behcet's disease, Sjogren's syndrome, Sarcoidosis, SLE, Lyme disease) and infectious diseases (like Brucellosis, Syphilis, HTLV-1 infection and herpes zoster) were negative. The patient recovered with intravenous steroid administration and at the age of 35 she started treatment with glatiramer acetate. Since then she had no relapses or new lesions at MRI scan. DISCUSSION: Genetic association between NF1 and MS has been hypothesized, focusing on OMGP-gene (oligodendrocyte-myelin glycoprotein gene), an intron of NF1 gene whose product is a CNS myelin protein and on NF1, which codes for neurofibromin, a protein that regulates cellular proliferation and differentiation. Mutations in NF1 would determine uncontrolled cellular proliferation of Schwann cells with an autoimmune response to oligodendrocytes antigens expressed in the central nervous system (CNS). NF and MS association is still debated since a causal relationship between the two diseases is not yet clearly defined
Very late onset multiple sclerosis likely associated with restless legs syndrome. A case report.
No full textIntroduction: We describe the case of P.R., a 84 years-old woman suffering from Restless Legs Syndrome since 2002 and Multiple Sclerosis since 2007.
Case report: MS clinical onset was characterized by walking difficulties and abnormal sensitivity in lower limbs especially in the evening. Then other symptoms added: dysesthesies on the left leg and arm and left emitrunk, visual acuity reduction, blurred vision and fatigue. She first performed an electromyographic and polysomnographic examination, with a diagnosis of Restless Legs Syndrome. At the MRI of the brain, multiple lesions in white matter were detected, unconsistent with a vascular disease but suggestive for a demielinating disease. The patient was admitted to hospital and the lumbar puncture was performed: the analysis of the cerebrospinal fluid showed 11 oligoclonal bands. VEPs, SSEPs, Trigeminus-facial reflex and a new brain MRI were performed later, and confirmed the MS. The patient regularly performed medical examinations and brain MRI to keep the condition under control. She claimed light and slow worsening of the ambulation, but her brain MRI didn’t show any increase of lesions burden nor pathological enhancement. Due to her age, she doesn’t take DM therapy for multiple sclerosis, the only drugs being represented by symptomatic agents.
Discussion: The association between multiple sclerosis and restless leg syndrome has been already described especially in old patients, but the onset of MS in elderly in unusual and it’s described as LOMS (late onset multiple sclerosis), with an onset after the age of 50 with typical clinical and neuroradiological features: the presence of motor and cerebellar symptoms seem to be more frequent in this sub-group of patients, as well as low frequency of Gadolinium enhacement lesions. This could be related to a more degenerative and less inflammatory form of the disease. Moreover, in this late onset patients is essential the different diagnosis with other diseases interesting the white matter, i.e. vascular, infective, paraneoplastic, metabolic diseases or nutritional deficiencies, which could confound the true diagnosis.
Conclusions: The present case report is interesting for the association between RLS and MS, but also as this comorbidity occurs I a very old patient, who could be described as a patient with a “very late onset multiple sclerosis”
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
Relation between cerebrospinal fluid oxidative stress biomarkers and intrathecal Ig synthesis in multiple sclerosis
No full textIntroduction: Oxidative stress has been implicated in disease progression and central nervous system (CNS) tissue damage in multiple sclerosis (MS) and may be related to CNS inflammation. The objective of the present study was to evaluate if cerebrospinal fluid (CSF) oxidative stress biomarkers (advanced oxidation protein products (AOPP) and
ferric reducing ability (FRA)) could be related to intrathecal IgG or IgM synthesis in MS patients. Material and methods: 54 consecutively admitted patients with clinically isolated syndrome (CIS) suggestive of MS or with MS were included. CSF samples collected at time of diagnosis were evaluated for physicochemical analysis, presence of oligoclonal
Ig bands, AOPP and FRA levels. Results: Oligoclonal intrathecal Ig bands were found in 100% of patients (2 subjects presented only 1 oligoclonal band). In 11 patients intrathecal IgM synthesis was detected. No relation was found between CSF AOPP levels or CSF FRA values and number of oligoclonal IgG bands (pvalues 0.3 and 0.6, respectively). No difference in CSF AOPP levels or CSF FRA values was observed between patients with intrathecal IgM synthesis and those without IgM synthesis. Conclusions: Our results seem to indicate that CSF oxidative stress
biomarkers are not related to intrathecal Ig synthesis
Occurrence of IgG oligoclonal bands in upper motor neuron disease: just by chance?
No full textIntroduction: Several mechanisms have been proposed to explain the pathogenesis of motor neuron disease (MND), including neuroinflammatory processes. Although results from routine cerebrospinal fluid (CSF) analysis are usually unremarkable, several studies have shown that oligoclonal bands (OCBs), indicating intrathecal synthesis of IgG, can be detected in 0.5–2 % of all MND cases. Case-reports: Here we report two cases of pure upper MND presenting with CSF OCBs. The first case is a 63 yrs-old woman that showed slowly progressive spastic paraparesis, dysarthria and swallowing disorders. Brain MRI showed unspecific little white matter lesions, spine MRI showed no lesion. DNA analysis for hereditary spastic paraparesis and for spinocerebellar diseases was negative. Needle elecromyography was normal, as was cerebral PET-FDG scan. CSF showed one OCB. The second case is a 69 yrs-old man that soon after a flu episode developed transitory thoracic dysesthesia and a progressive spastic paraparesis. Conventional brain and spine MRI were negative. The motor evoked potential showed pyramidal pattern. EMG was normal. Paraneoplastic markers and Hu, Yo, Ri antibodies were negative. At CSF two OCBs were detected. 7 Tesla MRI showed signal hypointensity and thinning of the primary motor cortex. There was no evidence of autoimmune, infectious or inflammatory diseases of the CNS in both cases. Paraproteinemia, lymphoma or any other systemic inflammatory or infectious conditions were also excluded. The first case did not improve with corticosteroid therapy, while the second responded only partially. The response to the intravenous Ig therapy was poor in both cases. Discussion: Intrathecal synthesis of OCBs is suggestive of a local humoral immune response, and is a common feature of multiple sclerosis and other chronic inflammatory or infectious diseases of the CNS, but is rarely detected in neurodegenerative diseases such as MND. This finding has been previously explained either by a former infection of the CNS, a concurrent paraproteinemia, a sign for a systemic infection, but also as an unspecific alteration. A recent study describes the occurrence of OCBs in ALS patients harboring TARDBP and ANG mutations, speculating the involvement of these genes on blood–brain barrier integrity. While it is not clear if there are differences in CSF profile between distinct motor neuron diseases (ALS, pure lower or pure upper MND, and hereditary spastic paraplegia), in TARDBP and ANG patients with OCBs there are evidences of a prevalent upper motor neuron involvement with unspecific white matter lesions and worst prognosis
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