Multiple sclerosis and Fabry disease - diagnostic “mixup”

Publication date: Available online 15 June 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Miljenka-Jelena Jurašić, Vanja Bašić Kes, Iris ZavoreoAbstractA common disease like multiple sclerosis (MS) usually dominates the arena of demyelinating disorders; however, when a red flag such as a first relative family history of neurologic disease other than MS is present, the diagnostics may be more challenging.Recently, we have come across an intriguing clinical and diagnostic dilemma requiring extensive literature search and finally, decision making. Namely, initial presentation in our patient was that of a frequent condition such as optic neuritis and demyelinating CNS lesions, and then unexpected additional information during the usual diagnostic process, in the matter of first relative being diagnosed with a rare disease – Anderson-Fabry disease, oriented us in another direction. Almost paradoxically, the rare diagnosis being genetically confirmed, initiated treatment first. Furthermore, multitude of published data instigated clinical, radiological and laboratory uncertainty in our minds urging us to use a “wait and see” approach for the potential second diagnosis in order to prevent causing harm or labeling our patient wrongly by a potential misdiagnosis. However, further clinical course, a follow-up MRI, comparison with initial findings, and multi-disciplinary consultation safely directed us to a frequent diagnosis of multiple ...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research

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CONCLUSIONS: Antibiotic prophylaxis may have a positive effect on lowering the number of participants who had shunt infections. However, the quality of included studies was low and the effect is not consistent within the different routes of administration that have been analysed. It is therefore uncertain whether prevention of shunt infection varies by different antibiotic agents, different administration routes, timing and doses; or by characteristics of patients, e.g. children and adults. The results of the review should be seen as hypothesis-generating rather than definitive, and the results should be confirmed in adequ...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: This systematic review identified moderate-quality evidence that, compared with sham procedure, venous PTA intervention did not provide benefit on patient-centred outcomes (disability, physical or cognitive functions, relapses, quality of life) in people with MS. Venous PTA has proven to be a safe technique but in view of the available evidence of its ineffectiveness, this intervention cannot be recommended in people with MS. All ongoing trials were withdrawn or terminated and hence this updated review is conclusive. No further randomised clinical studies are needed. PMID: 31150100 [PubMed - in process]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
This article has an associated First Person interview with the first author of the paper.
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Neurodegenerative disorders, Rare diseases RESEARCH ARTICLE Source Type: research
Conclusions: We demonstrated in the SOD1G93A model of ALS that increased levels of several cytokines were associated with a shorter lifespan. However, their role as prognostic biomarkers is unclear as their expression was very variable depending on both the disease stage and the subject. Nevertheless, cytokines may be potential therapeutic targets. Introduction Amyotrophic Lateral Sclerosis (ALS) is one of the most common rare diseases of unknown origin that leads to progressive motor neuron degeneration and muscle denervation (1). In particular, it has been described that either distal axonopathy or neuromuscular ju...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Publication date: Available online 6 April 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Adrian I. Espiritu, Bryan Vincent Q. Mesina, Athena Angellie DL. Puerto, Nikolai Gil D. Reyes, Ludwig F. Damian, Jose Leonard R. Pascual VAbstractNeuromyelitis optica spectrum disorder (NMOSD) is a rare disease that commonly presents with optic nerve and spinal cord inflammation, and it is associated with the presence of aquaporin-4 immunoglobulin G antibody (AQP4-IgG). Information on the clinical profile and occurrence of NMOSD among Filipino patients, however, is not sufficiently documented. In this series, we presen...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Publication date: Available online 31 January 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Benjamin M. Greenberg, Chitra Krishnan, Lana HarderAbstractImportancePatients afflicted with rare diseases often have a delay in diagnosis and treatment. Understanding the prevalence and impact of delayed diagnosis in transverse myelitis could trigger directed educational initiatives to increase clinician awareness and improve care.ObjectiveTo determine if symptoms at onset or care provider initially approached was associated with time to diagnosis, treatment or outcome in patients with transverse myelitis.DesignThi...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
CONCLUSIONS: Despite the use of a wide range of non-pharmacological interventions for the treatment of chronic pain in pwMS, the evidence for these interventions is still limited or insufficient, or both. More studies with robust methodology and greater numbers of participants are needed to justify the effect of these interventions for the management of chronic pain in pwMS. PMID: 30567012 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
In this study we wanted to examine the expression of ABCs in patients with aplastic anemia. We isolated peripheral blood mononuclear cells (PBMCs) from patients with aplastic anemia (n=10) and eight healthy, age- matched controls. Written informed consent was obtained from all study subjects. Cells were stained with the surface markers CD11c, CD19 and CD21, and subsequently analyzed using flow cytometry. An anti-Tbet antibody was also used after cell permeabilization. The CD11c-high, CD19 positive, CD21 negative, T-bet positive population represent the ABCs.Results: Patients with aplastic anemia at presentation showed incr...
Source: Blood - Category: Hematology Authors: Tags: 508. Bone Marrow Failure Source Type: research
CONCLUSIONS: Information provision for people with MS seems to increase disease-related knowledge, with less clear results on decision making and quality of life. The included studies in this review reported no negative side effects of providing disease-related information to people with MS. Interpretation of study results remains challenging due to the marked heterogeneity of interventions and outcome measures. PMID: 30317542 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: To date, very low-quality evidence suggests no benefit of vitamin D for patient-important outcomes among people with MS. Vitamin D appears to have no effect on recurrence of relapse, worsening of disability measured by the Expanded Disability Status Scale (EDSS), and MRI lesions. Effects on health-related quality of life and fatigue are unclear. Vitamin D₃ at the doses and treatment durations used in the included trials appears to be safe, although available data are limited. Seven ongoing studies will likely provide further evidence that can be included in a future update of this review. PMID: 30246874...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
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