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Sample records for herpese ja sclerosis

  1. Multiple Sclerosis

    MedlinePlus

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the ... attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins ...

  2. Lichen Sclerosis

    MedlinePlus

    ... of lichen sclerosis is unknown. Scientists have different theories to try to explain the cause, including an overactive immune system, genetic traits, or changes in hormones. Since lichen sclerosis is not caused ...

  3. Multiple Sclerosis

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Multiple Sclerosis Information Page Condensed from Multiple Sclerosis: Hope Through ... en Español Additional resources from MedlinePlus What is Multiple Sclerosis? An unpredictable disease of the central nervous system, ...

  4. Tuberous sclerosis

    MedlinePlus

    ... sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, and heart. The condition can also cause tumors to grow in the brain. These tumors have a tuber- or root-shaped appearance.

  5. Multiple Sclerosis

    MedlinePlus

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the ... and your body, leading to the symptoms of MS. They can include Visual disturbances Muscle weakness Trouble ...

  6. Multiple Sclerosis

    PubMed Central

    Hashimoto, S.A.; Jiwa, Theresa I.

    1991-01-01

    Successful management of patients with multiple sclerosis depends upon the involvement of the family physician. All contacts with either a multiple sclerosis clinic or a neurologist should be made at the instigation of the family practitioner. Constant contact with the family physician ensures that the individual receives proper care. While specialty care is needed for many of the symptoms, psychosocial problems are dealt with best by the individual's own family physician. PMID:21229090

  7. Multiple Sclerosis.

    ERIC Educational Resources Information Center

    Plummer, Nancy; Michael, Nancy, Ed.

    This module on multiple sclerosis is intended for use in inservice or continuing education programs for persons who administer medications in long-term care facilities. Instructor information, including teaching suggestions, and a listing of recommended audiovisual materials and their sources appear first. The module goal and objectives are then…

  8. Multiple sclerosis.

    PubMed

    Files, Daniel Kane; Jausurawong, Tani; Katrajian, Ruba; Danoff, Robert

    2015-06-01

    Multiple sclerosis (MS) is a chronic, debilitating disease that can have devastating effects. Presentation varies widely in symptoms, pace, and progression. In addition to a thorough history and physical examination, diagnostic tools required to diagnose MS and exclude other diagnoses include MRI, evoked potential testing, and cerebrospinal fluid analysis. Although the disease is not curable presently, quality of life can be improved by minimizing the frequency and severity of disease burden. Disease modification, symptom management, preservation of function, and treatment of psychosocial issues are paramount to enhance the quality of life for the patient affected with MS. PMID:25979578

  9. Amyotrophic lateral sclerosis

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000688.htm Amyotrophic lateral sclerosis To use the sharing features on this page, please enable JavaScript. Amyotrophic lateral sclerosis, or ALS, is a disease of the nerve ...

  10. National Multiple Sclerosis Society

    MedlinePlus

    Home - National Multiple Sclerosis Society Skip to navigation Skip to content Menu Navigation National Multiple Sclerosis Society Sign In In Your Area ... DIAGNOSED IN 2009 You Can Live Well with MS A healthy diet, regular exercise, stress management and ...

  11. Fatigue and Multiple Sclerosis

    MedlinePlus

    Fatigue - National Multiple Sclerosis Society Skip to navigation Skip to content Menu Navigation National Multiple Sclerosis Society Sign In In Your Area ... help* daily life for: positive-mom* The National MS Society is Here to Help Need More Information? ...

  12. Multiple sclerosis - discharge

    MedlinePlus

    Your doctor has told you that you have multiple sclerosis. This disease affects the brain and spinal cord ( ... your doctor may prescribe medicine. Some people with multiple sclerosis need to use a urinary catheter . This is ...

  13. [Systemic sclerosis].

    PubMed

    Tamborrini, Giorgio; Distler, Meike; Distler, Oliver

    2008-05-01

    Systemic sclerosis (SSc) is a severe fibrotic multiorgan connective tissue disease. Vascular abnormalities such as fingertip ulcers and Raynaud's syndrome as well as involvement of organs including the lungs, heart, kidney and the gastrointestinal tract are prominent features of the disease. There are currently no disease modifying drugs available that can modify the course of the disease. In this review we will discuss medications that have been found to be effective in improving specific organ involvement due to SSc. For the treatment of gastroesophageal reflux disease (GERD), proton pump inhibitors are effective agents. In the setting of clinically significant gastrointestinal dysmotility, metoclopramide, erythromycin and octreotide may be beneficial. Small bowel bacterial overgrowth should be treated with oral antibiotics. Angiotensin converting enzyme inhibitors are the first-line agents for acute renal crisis. A variety of treatment options are available for Raynaud's phenomenon and include calcium channel blockers, iloprost (i. v.), losartan, fluoxetine and sildenafil. Fingertip ulcers can be prevented by using the endothelin receptor antagonist bosentan. The therapeutic options for treatment of pulmonary hypertension associated with SSc include bosentan, sildenafil and various prostacyclin analogs (eg, epoprostenol, treprostinil, iloprost). Sitaxentan, ambrisentan and new phosphodiesterase-5 inhibitors could be new options for therapy as well. Therapeutic options for interstitial lung fibrosis include cyclophosphamide, however, clinical effects are mild to moderate. Methotrexate has been used to treat skin fibrosis and can be beneficial when arthritis is present. PMID:18552072

  14. Multiple sclerosis.

    PubMed

    Filippi, Massimo; Preziosa, Paolo; Rocca, Maria A

    2016-01-01

    Due to its sensitivity to the different multiple sclerosis (MS)-related abnormalities, magnetic resonance imaging (MRI) has become an established tool to diagnose MS and to monitor its evolution. MRI has been included in the diagnostic workup of patients with clinically isolated syndromes suggestive of MS, and ad hoc criteria have been proposed and are regularly updated. In patients with definite MS, the ability of conventional MRI techniques to explain patients' clinical status and progression of disability is still suboptimal. Several advanced MRI-based technologies have been applied to estimate overall MS burden in the different phases of the disease. Their use has allowed the heterogeneity of MS pathology in focal lesions, normal-appearing white matter and gray matter to be graded in vivo. Recently, additional features of MS pathology, including macrophage infiltration and abnormal iron deposition, have become quantifiable. All of this, combined with functional imaging techniques, is improving our understanding of the mechanisms associated with MS evolution. In the near future, the use of ultrahigh-field systems is likely to provide additional insight into disease pathophysiology. However, the utility of advanced MRI techniques in clinical trial monitoring and in assessing individual patients' response to treatment still needs to be assessed. PMID:27432676

  15. Genetics Home Reference: multiple sclerosis

    MedlinePlus

    ... Me Understand Genetics Home Health Conditions multiple sclerosis multiple sclerosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Multiple sclerosis is a condition characterized by areas of damage ( ...

  16. Tuberous sclerosis complex coexistent with hippocampal sclerosis.

    PubMed

    Lang, Min; Prayson, Richard A

    2016-02-01

    Tuberous sclerosis and hippocampal sclerosis are both well-defined entities associated with medically intractable epilepsy. To our knowledge, there has been only one prior case of these two pathologies being co-existent. We report a 7-month-old boy who presented with intractable seizures at 2 months of age. MRI studies showed diffuse volume loss in the brain with bilateral, multiple cortical tubers and subcortical migration abnormalities. Subependymal nodules were noted without subependymal giant cell astrocytoma. Genetic testing revealed TSC2 and PRD gene deletions. Histopathology of the hippocampus showed CA1 sclerosis marked by loss of neurons in the CA1 region. Sections from the temporal, parietal and occipital lobes showed multiple cortical tubers characterized by cortical architectural disorganization, gliosis, calcifications and increased number of large balloon cells. Focal white matter balloon cells and spongiform changes were also present. The patient underwent resection of the right fronto-parietal lobe and a subsequent resection of the right temporal, parietal and occipital lobes. The patient is free of seizures on anti-epileptic medication 69 months after surgery. Although hippocampal sclerosis is well documented to be associated with coexistent focal cortical dysplasia, the specific co-existence of cortical tubers and hippocampal sclerosis appears to be rare. PMID:26498091

  17. Amyotrophic Lateral Sclerosis

    MedlinePlus

    Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your ... people with ALS die from respiratory failure. The disease usually strikes between age 40 and 60. More ...

  18. Amyotrophic Lateral Sclerosis

    MedlinePlus

    Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons ... breathing machine can help, but most people with ALS die from respiratory failure. The disease usually strikes ...

  19. Primary Lateral Sclerosis

    MedlinePlus

    ... synthesizers, and wheelchairs ma help some people retain independence.. Speech therapy may be useful for those with ... prevent, and ultimately cure these devastating diseases. NIH Patient Recruitment for Primary Lateral Sclerosis Clinical Trials At ...

  20. Multiple Sclerosis: Hope Through Research

    MedlinePlus

    ... of this page please turn Javascript on. Feature: Multiple Sclerosis Hope Through Research Past Issues / Spring 2012 Table ... that television journalist Neil Cavuto was diagnosed with multiple sclerosis (MS) more than 15 years ago. And that ...

  1. Multiple sclerosis and pregnancy.

    PubMed

    Bodiguel, E; Bensa, C; Brassat, D; Laplaud, D; Le Page, E; Ouallet, J-C; Zephir, H; De Seze, J

    2014-04-01

    The question of pregnancy in patients with multiple sclerosis is regularly raised due to the prevalence of the disease in middle age women. The multiple sclerosis think tank (Groupe de Réflexion sur la Sclérose en Plaques [GRESEP]) decided to develop recommendations on this issue, with consideration to both the impact of multiple sclerosis on pregnancy, and that of pregnancy on the disease. As with topics of previous works, the formal expert consensus method was used. The working group was composed of hospital-based and private practice neurologists. The reading group was composed of neurologists, anaesthetists and obstetricians. Each recommendation is presented with the relevant level of consensus. PMID:24684929

  2. Immunopathology of multiple sclerosis.

    PubMed

    Dendrou, Calliope A; Fugger, Lars; Friese, Manuel A

    2015-09-15

    Two decades of clinical experience with immunomodulatory treatments for multiple sclerosis point to distinct immunological pathways that drive disease relapses and progression. In light of this, we discuss our current understanding of multiple sclerosis immunopathology, evaluate long-standing hypotheses regarding the role of the immune system in the disease and delineate key questions that are still unanswered. Recent and anticipated advances in the field of immunology, and the increasing recognition of inflammation as an important component of neurodegeneration, are shaping our conceptualization of disease pathophysiology, and we explore the potential implications for improved healthcare provision to patients in the future. PMID:26250739

  3. Conjugal amyotrophic lateral sclerosis

    PubMed Central

    Dewitt, John D.; Kwon, Julia; Burton, Rebecca

    2012-01-01

    Amyotrophic lateral sclerosis (ALS) is a disease characterized by progressive degeneration of motor neurons in the motor cortex, brainstem, and spinal cord. The incidence of sporadic ALS is 1.5 to 2.7 in 100,000, and the prevalence is 5.2 to 6.0 in 100,000. Conjugal ALS is even rarer than sporadic ALS. We report a case of conjugal ALS encountered in our outpatient neurology clinic. PMID:22275781

  4. Pregnancy and multiple sclerosis

    PubMed Central

    Airas, Laura; Kaaja, Risto

    2012-01-01

    The relapse rate of multiple sclerosis (MS) is typically reduced during late pregnancy but increases in the postpartum period. The reasons for the increased postpartum activity are not entirely clear, but factors such as the abrupt decrease in oestrogen levels immediately after the delivery and the loss of the immunosuppressive state of pregnancy are likely of importance. There is a general view that MS does not affect the course or outcome of pregnancy.

  5. Symptomatic therapy in multiple sclerosis

    PubMed Central

    Frohman, Teresa C.; Castro, Wanda; Shah, Anjali; Courtney, Ardith; Ortstadt, Jeffrey; Davis, Scott L.; Logan, Diana; Abraham, Thomas; Abraham, Jaspreet; Remington, Gina; Treadaway, Katherine; Graves, Donna; Hart, John; Stuve, Olaf; Lemack, Gary; Greenberg, Benjamin; Frohman, Elliot M.

    2011-01-01

    Multiple sclerosis is the most common disabling neurological disease of young adults. The ability to impact the quality of life of patients with multiple sclerosis should not only incorporate therapies that are disease modifying, but should also include a course of action for the global multidisciplinary management focused on quality of life and functional capabilities. PMID:21694806

  6. [Hypersomnia in multiple sclerosis].

    PubMed

    Schlüter, B; Aguigah, G; Andler, W

    1996-01-01

    A 13-year-old girl presented with hyersomnia and incontinence of urine. The clinical course was complicated by strabism, muscle weakness and coordination and balance disturbances. VEP recording were pathologic. Myelin basic protein in the cerebrospinal fluid was elevated. Nuclear resonance imaging of the brain revealed multiple areas of demyelination. These findings supported the diagnosis of multiple sclerosis. There was a marked disturbance of the sleep-waking-pattern during the acute phase of the illness. The hypnogram resembled the pattern of polysymptomatic narcolepsy. Regression of symptoms was noted with dexamethasone therapy. PMID:8676595

  7. Multiple sclerosis and infections.

    PubMed

    Venkatesan, Arun

    2015-01-01

    The intersection between infections and multiple sclerosis (MS) is complex and bidirectional. Numerous infectious agents have been posited to play a role in the initiation of MS, while emerging evidence suggests a potential relationship between established MS and the gut microbiome. As both systemic and CNS infections are major complications of MS, the clinical manifestations and evolving epidemiology of these infections over the lifespan of the MS patient are examined in this review. Data from animal models and human studies are discussed. PMID:26611265

  8. Psychopathology in Multiple Sclerosis

    PubMed Central

    Brüne, Martin; Juckel, Georg

    2009-01-01

    Multiple sclerosis (MS) is a chronic inflammatory disorder of the central nervous system. Demyelinization of nerve fibres not only affects the motor and sensory systems functionally, but may also cause psychopathological signs and symptoms. In addition to the psychiatric manifestations of MS, many patients have reactive psychological problems that are often hard to distinguish from the ‘organic’ causation of psychopathology. In any event, psychiatric comorbidity in MS deserves greater clinical attention than has been previously paid, because the presence of psychopathology may have deleterious effects on the disease process and impair coping with disability. PMID:21180640

  9. [Future challenges in multiple sclerosis].

    PubMed

    Fernández, Óscar

    2014-12-01

    Multiple sclerosis occurs in genetically susceptible individuals, in whom an unknown environmental factor triggers an immune response, giving rise to a chronic and disabling autoimmune disease. Currently, significant progress is being made in our knowledge of the frequency and distribution of multiple sclerosis and its risk factors, genetics, pathology, pathogenesis, diagnostic and prognostic markers, and treatment. This has radically changed patients' and clinicians' expectations of multiple sclerosis and has raised hope that there will soon be a way to control the disease. PMID:25732950

  10. Tuberous sclerosis, hypopigmented macule (image)

    MedlinePlus

    This area of decreased pigment (hypopigmentation) is referred to as an "ash leaf macule" and is seen with the inherited disorder, tuberous sclerosis. Another finding, "confetti hypopigmentation" is evident as scattered white spots around the ash leaf spot.

  11. [Current therapy of multiple sclerosis].

    PubMed

    Antonio García Merino, J

    2014-12-01

    Since the introduction of interferon beta 1 b for the treatment of multiple sclerosis, there has been a progressive increase in the number of drugs available for this disease. Currently, 11 drugs have been approved in Spain, and their indications depend on specific clinical characteristics. The present article reviews these indications and also discusses other medications without official approval that have also been used in multiple sclerosis. PMID:25732945

  12. Tuberous Sclerosis Complex Renal Disease

    PubMed Central

    Dixon, Bradley P.; Hulbert, John C.; Bissler, John J.

    2010-01-01

    Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal survival and improved quality of life for the TSC patient. This review specifically addresses some of the major renal manifestations of this disease. PMID:21071977

  13. Metabolomics in multiple sclerosis.

    PubMed

    Bhargava, Pavan; Calabresi, Peter A

    2016-04-01

    Multiple sclerosis (MS) is a chronic demyelinating disorder of the central nervous system with inflammatory and degenerative components. The cause of MS remains unknown although genetic and environmental factors appear to play a role in its etiopathogenesis. Metabolomics is a new "omics" technology that aims at measuring small molecules in various biological matrices and can provide information that is not readily obtained from genomics, transcriptomics, or proteomics. Currently, several different analytical platforms exist for metabolomics, and both untargeted and targeted approaches are being employed. Methods of analysis of metabolomics data are also being developed and no consensus currently exists on the optimal approach to analysis and interpretation of these data. Metabolomics has the potential to provide putative biomarkers, insights into the pathophysiology of the disease, and to aid in precision medicine for patients with MS. PMID:26754801

  14. Immunology of Multiple Sclerosis.

    PubMed

    Sospedra, Mireia; Martin, Roland

    2016-04-01

    Multiple sclerosis (MS) is considered a prototypic autoimmune disease of the central nervous system (CNS). A complex genetic background with the HLA-DR15 haplotype as the main genetic risk factor and over 100 mostly immune-related minor risk alleles as well as several environmental factors contribute to the etiology of MS. With respect to pathomechanisms, autoimmune inflammation in early MS is primarily mediated by adaptive immune responses and involves autoreactive T cells, B cells, and antibodies, while the later, chronic stages of MS are characterized by a compartmentalized immune response in the CNS with activated microglia and macrophages. A host of immune cells and mediators can contribute to the autoimmune process, but CNS-related factors such as localization of lesions, vulnerability of oligodendrocytes, neurons/axons, and secondary metabolic changes all play a role in the heterogeneous expression of the disease, including different pathologic lesion patterns, neuroimaging findings, disease courses, and severity and response to treatment. PMID:27116718

  15. Aging and multiple sclerosis.

    PubMed

    Sanai, Shaik Ahmed; Saini, Vasu; Benedict, Ralph Hb; Zivadinov, Robert; Teter, Barbara E; Ramanathan, Murali; Weinstock-Guttman, Bianca

    2016-05-01

    The life expectancy and average age of persons with multiple sclerosis (MS) have increased significantly during the last two decades. The introduction of disease-modifying therapies and a better delineation and understanding of the superimposed comorbidities often diagnosed in MS patients are probably the most important factors accountable for the increase in aging MS population worldwide. Healthcare teams must therefore address the problems arising due to advancing age superimposed on this chronic neurologic disease. In this review, we focus on the physiology of aging, its effects on MS disease course, and the pathological and immunological changes associated with aging and disease progression. Additionally, we discuss the common comorbidities that occur in aging persons with MS that may arise either as a result of the aging process or from relentless chronic MS disease progression as well as the challenges on differentiating the two processes for a more appropriate therapeutic approach. PMID:26895718

  16. Treatment of systemic sclerosis.

    PubMed Central

    Medsger, T A

    1991-01-01

    Proper classification of patients into diffuse cutaneous and limited cutaneous subsets and the anticipation of complications are the keys to the management of subjects with systemic sclerosis (scleroderma). Patients with early diffuse disease and rapidly progressive skin thickening are at highest risk of developing serious disease of the internal organs (intestine, lung, heart, kidney) and should be considered for disease modifying treatment. The targets of the disease and sites of possible intervention are vascular endothelium (vasoprotective agents), mononuclear cell subsets (immunosuppressive agents), and fibroblasts (colchicine, D-penicillamine). A number of new agents with sound scientific rationale are currently undergoing therapeutic trials. Much can be done to improve the lifestyle of those with scleroderma. The most dramatic recent development is the ability to reverse kidney disease by the prompt use of angiotensin converting enzyme inhibitors and modern methods of renal dialysis and transplantation. Scleroderma is not a hopeless disease. PMID:1750801

  17. Alemtuzumab for Multiple Sclerosis.

    PubMed

    Willis, Mark D; Robertson, Neil P

    2016-09-01

    Alemtuzumab is a humanised anti-CD52 monoclonal antibody approved for use in active, relapsing multiple sclerosis (MS). Administration results in a rapid depletion of circulating lymphocytes with a subsequent beneficial immune reconstitution. Early open-label experience and recent clinical trials have demonstrated a dramatic effect on relapse rates as well as a positive effect on radiological disease outcomes and disability measures. Despite a mechanism of action that results in profound lymphopaenia, opportunistic infections are rarely seen and no excess association with malignancy has been identified. However, acquired autoimmune disease (AID) is a common adverse event following treatment, necessitating rigorous monitoring in order to facilitate prompt detection and management. Despite this issue, a unique dosing schedule and durability of effect make alemtuzumab a welcome addition to currently available treatment options for MS. PMID:27485945

  18. Genetics Home Reference: tuberous sclerosis complex

    MedlinePlus

    ... phenotype in tuberous sclerosis. J Med Genet. 2004 Mar;41(3):203-7. Citation on PubMed or ... sclerosis complex: a review. Semin Pediatr Neurol. 2006 Mar;13(1):27-36. Review. Citation on PubMed ...

  19. Multiple sclerosis and Natalizumab.

    PubMed

    Fiore, Domenico

    2007-01-01

    Natalizumab (NTZ), defined as "the first of a new class of drugs known as elective adhesion molecule inhibitors" was developed at the beginning of 2003 to treat relapsing-remitting multiple sclerosis (MS) and was approved in the United States in November 2004. In February 2005, the production of NTZ was suspended by Producer Firms on account of the occurrence of two serious adverse events: two patients who had been taking NTZ manifested a progressive multifocal leukoencephalopathy; the patients showed progressive neurologic deterioration, initially believed to be a worsening of the pre-existing condition of MS. In March 2006, the Advisory Panel of the Food and Drug Administration voted unanimously in favor of the return of NTZ on the market with the majority of the panel also recommending that NTZ be considered the first choice of treatment in MS. NTZ should only be administered to patients who are not taking other medicines for MS and only in highly specialized centers. Inhibiting the adhesion of the circulating immune-competent cells to the vascular endothelium and reducing the precipitation of the circulating immune complexes (CICs) into the central nervous system, NTZ causes the level of the CICs to rise to values that inhibit the production of the antibodies (above all of the immunoglobulin Ms); because of the relative lack of antibodies, the pertussis toxins, no longer complexed, attack the nerve epithelia directly. We must conclude that 1) in remittent MS, between one attack and another (successive re-infection of bordetella pertussis) there are no CICs that can precipitate into the central nervous system, and thus the treatment with NTZ is useless and superfluous; 2) in chronic-progressive MS, the final result of the treatment with NTZ will be that of transforming MS into lateral amyotrophic sclerosis or progressive multifocal leukoencephalopathy; 3) in progressive MS, however, NTZ can be of considerable use in the first 2 months of antibiotic treatment to

  20. Disability in multiple sclerosis

    PubMed Central

    Chamot, Eric; Salter, Amber R.; Cutter, Gary R.; Bacon, Tamar E.; Herbert, Joseph

    2013-01-01

    Objective: To create a reference table of disability outcomes in multiple sclerosis (MS) that would enable patients to rank their disability relative to others' with similar disease duration and to develop a cost-effective research tool for comparing MS severity across patient populations and time periods. Methods: The North American Research Committee on Multiple Sclerosis (NARCOMS) Registry collects disability data from patients with MS on a validated, 9-point Patient-Determined Disease Steps (PDDS) scale. We compiled the Disability Expectancy Table, which displays cumulative frequencies of PDDS scores for each year of disease duration, from 0 to 45 years. We also tabulated disease duration–adjusted mean ranks of PDDS scores, referred to as Patient-derived MS Severity Scores (P-MSSS). Results: The cohort consisted of 27,918 NARCOMS enrollees, 72.7% of whom were female and 90.1% of whom were white. Mean age at symptom onset was 30.1 ± 10.1 years, and age at enrollment was 47.1 ± 11.0 years. The Disability Expectancy Table and P-MSSS afford a detailed overview of disability outcomes in a large MS cohort over a 45-year period. In the first year of disease, 15% of patients reported need of ambulatory aid, and 4% needed bilateral assistance or worse; after 45 years of disease, 76% of patients required ambulatory aid, and 52% bilateral assistance or worse. Proportion of patients who reported minimal or no interference in daily activities (PDDS ≤ 1) declined from 63% in the first year to 8% after 45 years of disease. Conclusion: The Disability Expectancy Table allows individual patients to determine how their disability ranks relative to NARCOMS enrollees with the same disease duration. P-MSSS may be used to compare disability across patient populations and to track disease progression in patient cohorts. P-MSSS does not require a formal neurologic examination and may therefore find wide applicability as a practical and cost-effective outcome measure in

  1. Pharmacotherapy of Systemic Sclerosis

    PubMed Central

    Postlethwaite, Arnold E.; Harris, L. Jeff; Raza, Syed H.; Kodura, Swapna; Akhigbe, Titilola

    2010-01-01

    Importance of the field Systemic-sclerosis (SSc) is an uncommon autoimmune disease with variable degrees of fibroproliferation in blood vessels and certain organs of the body. Presently, there is no cure for SSc. The purpose of this article is to review the current literature regarding pathogenesis and treatment of complications of SSc. Areas covered in this review All available articles regarding research related to SSc pathogenesis and treatment listed in the PubMed.gov database were searched, relevant articles were then reviewed and used as sources of information for this review. What the reader will gain This review attempts for the reader to highlight some current thought regarding mechanisms of SSc pathogenesis and how autoimmunity relates to vascular changes and fibrogenesis of the disease plus provide a review of results of completed clinical trials and current on-going clinical trials that address organ specific or global therapies for this disease which can aid physicians who provide medical care for patients with SSc. Take home message SSc is a complex autoimmune disease, the pathogenesis of which although not completely understood is under active study, and new insights into pathogenesis are continuously being discovered. Although there is no effective disease modifying treatment for patients with SSc, quality of life, morbidity and mortality can be improved by using targeted therapy directed at affecting the consequences of damage to lungs, blood vessels, kidneys and the gastrointestinal tract. Innovative approaches to treating SSc are under intense investigation. PMID:20210685

  2. Astrocytes in multiple sclerosis.

    PubMed

    Ludwin, Samuel K; Rao, Vijayaraghava Ts; Moore, Craig S; Antel, Jack P

    2016-08-01

    Recent experimental and clinical studies on astrocytes are unraveling the capabilities of these multi-functional cells in normal homeostasis, and in central nervous system (CNS) disease. This review focuses on understanding their behavior in all aspects of the initiation, evolution, and resolution of the multiple sclerosis (MS) lesion. Astrocytes display remarkable flexibility and variability of their physical structure and biochemical output, each aspect finely tuned to the specific stage and location of the disease, participating in both pathogenic and beneficial changes seen in acute and progressive forms. As examples, chemo-attractive or repulsive molecules may facilitate the entry of destructive immune cells but may also aid in the recruitment of oligodendrocyte precursors, essential for repair. Pro-inflammatory cytokines may attack pathogenic cells and also destroy normal oligodendrocytes, myelin, and axons. Protective trophic factors may also open the blood-brain barrier and modulate the extracellular matrix to favor recruitment and persistence of CNS-specific immune cells. A chronic glial scar may confer structural support following tissue loss and inhibit ingress of further noxious insults and also inhibit migration of reparative cells and molecules into the damaged tissue. Continual study into these processes offers the therapeutic opportunities to enhance the beneficial capabilities of these cells while limiting their destructive effects. PMID:27207458

  3. Tuberous sclerosis complex.

    PubMed

    Henske, Elizabeth P; Jóźwiak, Sergiusz; Kingswood, J Christopher; Sampson, Julian R; Thiele, Elizabeth A

    2016-01-01

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the disease worldwide. The clinical features of TSC are distinctive and can vary widely between individuals, even within one family. Major features of the disease include tumours of the brain, skin, heart, lungs and kidneys, seizures and TSC-associated neuropsychiatric disorders, which can include autism spectrum disorder and cognitive disability. TSC1 (also known as hamartin) and TSC2 (also known as tuberin) form the TSC protein complex that acts as an inhibitor of the mechanistic target of rapamycin (mTOR) signalling pathway, which in turn plays a pivotal part in regulating cell growth, proliferation, autophagy and protein and lipid synthesis. Remarkable progress in basic and translational research, in addition to several randomized controlled trials worldwide, has led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas and pulmonary lymphangioleiomyomatosis, but further research is needed to establish full indications of therapeutic treatment. In this Primer, we review the state-of-the-art knowledge in the TSC field, including the molecular and cellular basis of the disease, medical management, major knowledge gaps and ongoing research towards a cure. PMID:27226234

  4. Viruses and multiple sclerosis.

    PubMed

    Owens, Gregory P; Gilden, Don; Burgoon, Mark P; Yu, Xiaoli; Bennett, Jeffrey L

    2011-12-01

    Multiple sclerosis (MS) is a chronic demyelinating disorder of unknown etiology, possibly caused by a virus or virus-triggered immunopathology. The virus might reactivate after years of latency and lyse oligodendrocytes, as in progressive multifocal leukoencephalopathy, or initiate immunopathological demyelination, as in animals infected with Theiler's murine encephalomyelitis virus or coronaviruses. The argument for a viral cause of MS is supported by epidemiological analyses and studies of MS in identical twins, indicating that disease is acquired. However, the most important evidence is the presence of bands of oligoclonal IgG (OCBs) in MS brain and CSF that persist throughout the lifetime of the patient. OCBs are found almost exclusively in infectious CNS disorders, and antigenic targets of OCBs represent the agent that causes disease. Here, the authors review past attempts to identify an infectious agent in MS brain cells and discuss the promise of using recombinant antibodies generated from clonally expanded plasma cells in brain and CSF to identify disease-relevant antigens. They show how this strategy has been used successfully to analyze antigen specificity in subacute sclerosing panencephalitis, a chronic encephalitis caused by measles virus, and in neuromyelitis optica, a chronic autoimmune demyelinating disease produced by antibodies directed against the aquaporin-4 water channel. PMID:22130640

  5. Immunopathogenesis of multiple sclerosis.

    PubMed

    Racke, Michael K

    2009-10-01

    Multiple sclerosis (MS) is a suspected autoimmune disease in which myelin-specific CD4+ and CD8+ T cells enter the central nervous system (CNS) and initiate an inflammatory response directed against myelin and other components of the CNS. Acute MS exacerbations are believed be the result of active inflammation, and progression of disability is generally believed to reflect accumulation of damage to the CNS, particularly axonal damage. Over the last several years, the pathophysiology of MS is being appreciated to be much more complex, and it appears that the development of the MS plaque involves a large number of cell populations, including CD8+ T lymphocytes, B cells, and Th17 cells (a population of helper T cells that secrete the inflammatory cytokine IL-17). The axonal transection and degeneration that is thought to represent the basis for progressive MS is now recognized to begin early in the disease process and to continue in the progressive forms of the disease. Molecules important for limiting aberrant neural connections in the CNS have been identified, which suppress axonal sprouting and regeneration of transected axons within the CNS. Pathways have also been identified that prevent remyelination of the MS lesion by oligodendrocyte precursors. Novel neuroimaging methodologies and potential biomarkers are being developed to monitor various aspects of the disease process in MS. As we identify the pathways responsible for the clinical phenomena of MS, we will be able to develop new therapeutic strategies for this disabling illness of young adults. PMID:20182567

  6. [Pathophysiology of multiple sclerosis].

    PubMed

    Smith, Kenneth J

    2006-06-30

    Patients with multiple sclerosis (MS) can exhibit an exceptionally wide variety of symptoms. This is largely due to the semi-random distribution of the lesions in the central nervous system (CNS). Most lesions occur in apparently "silent" areas in the brain, and so cause no detectable symptoms. The disease is therefore much more active than a mere clinical monitoring would suggest. Most symptoms are related to a loss of function. During the relapses, this is due to a failure of axonal conduction at the site of the lesion(s). The conduction block is caused by the local demyelination which prevents the saltatory conduction but also seemingly, to some extend, by the inflammation per se. Remissions are related to a recovery of function of the affected axons owing to a spreading of sodium channels along the demyelinated axolemma but also to cerebral functional plasticity and remyelination. However, nerve conduction remains slower and less secure than normal, easily altered by physico-chemical changes such as the increase in body temperature (Uhthoff's phenomenon). Remission is incomplete when the lesion has led to axonal transaction and therefore axonal loss. Progression in MS is mainly related to "slow-burning" diffuse and chronic axonal loss in a toxic inflammatory milieu. Lastly, some symptoms in MS are so-called "positive" arising from an acquired hyperexcitability of demyelinated axons and occur either spontaneously (e.g. paresthesias) or mechanically (e.g. Lhermitte's sign). PMID:16948217

  7. Viruses and Multiple Sclerosis

    PubMed Central

    Owens, Gregory P.; Gilden, Don; Burgoon, Mark P.; Yu, Xiaoli; Bennett, Jeffrey L.

    2012-01-01

    Multiple sclerosis (MS) is a chronic demyelinating disorder of unknown etiology, possibly caused by a virus or virus-triggered immunopathology. The virus might reactivate after years of latency and lyse oligodendrocytes, as in progressive multifocal leukoencephalopathy, or initiate immunopathological demyelination, as in animals infected with Theiler’s murine encephalomyelitis virus or coronaviruses. The argument for a viral cause of MS is supported by epidemiological analyses and studies of MS in identical twins, indicating that disease is acquired. However, the most important evidence is the presence of bands of oligoclonal IgG (OCBs) in MS brain and CSF that persist throughout the lifetime of the patient. OCBs are found almost exclusively in infectious CNS disorders, and antigenic targets of OCBs represent the agent that causes disease. Here, the authors review past attempts to identify an infectious agent in MS brain cells and discuss the promise of using recombinant antibodies generated from clonally expanded plasma cells in brain and CSF to identify disease-relevant antigens. They show how this strategy has been used successfully to analyze antigen specificity in subacute sclerosing panencephalitis, a chronic encephalitis caused by measles virus, and in neuromyelitis optica, a chronic autoimmune demyelinating disease produced by antibodies directed against the aquaporin-4 water channel. PMID:22130640

  8. Albumin and multiple sclerosis.

    PubMed

    LeVine, Steven M

    2016-01-01

    Leakage of the blood-brain barrier (BBB) is a common pathological feature in multiple sclerosis (MS). Following a breach of the BBB, albumin, the most abundant protein in plasma, gains access to CNS tissue where it is exposed to an inflammatory milieu and tissue damage, e.g., demyelination. Once in the CNS, albumin can participate in protective mechanisms. For example, due to its high concentration and molecular properties, albumin becomes a target for oxidation and nitration reactions. Furthermore, albumin binds metals and heme thereby limiting their ability to produce reactive oxygen and reactive nitrogen species. Albumin also has the potential to worsen disease. Similar to pathogenic processes that occur during epilepsy, extravasated albumin could induce the expression of proinflammatory cytokines and affect the ability of astrocytes to maintain potassium homeostasis thereby possibly making neurons more vulnerable to glutamate exicitotoxicity, which is thought to be a pathogenic mechanism in MS. The albumin quotient, albumin in cerebrospinal fluid (CSF)/albumin in serum, is used as a measure of blood-CSF barrier dysfunction in MS, but it may be inaccurate since albumin levels in the CSF can be influenced by multiple factors including: 1) albumin becomes proteolytically cleaved during disease, 2) extravasated albumin is taken up by macrophages, microglia, and astrocytes, and 3) the location of BBB damage affects the entry of extravasated albumin into ventricular CSF. A discussion of the roles that albumin performs during MS is put forth. PMID:27067000

  9. Pediatric Multiple Sclerosis.

    PubMed

    Lee, Ji Y; Chitnis, Tanuja

    2016-04-01

    Pediatric multiple sclerosis (MS) is a chronic inflammatory neurologic disease that is challenging to diagnose and treat. Although there are many clinical parallels between pediatric-onset MS and adult-onset MS, there is also accumulating evidence of distinguishing clinical features that may, in part, arise from development-specific, neuroimmune processes governing MS pathogenesis in children. Here the authors describe the clinical features, diagnosis, and treatment of pediatric MS, with a particular focus on describing clinical features and highlighting new developments that promise a better understanding of pediatric MS pathogenesis. An important task that lies ahead for pediatric neurologists is better understanding the early gene-environment interaction that precipitates the first demyelinating event in pediatric MS. This area is of particular importance for understanding the MS etiology and the natural history of pediatric MS. Such understanding should in turn inform new developments in diagnostic tools, long-term therapies, and much-needed biomarkers. Such biomarkers are not only valuable for defining the disease onset, but also for monitoring both the treatment response and a disease evolution that spans multiple decades in children with MS. PMID:27116721

  10. Thermoregulation in multiple sclerosis.

    PubMed

    Davis, Scott L; Wilson, Thad E; White, Andrea T; Frohman, Elliot M

    2010-11-01

    Multiple sclerosis (MS) is a progressive neurological disorder that disrupts axonal myelin in the central nervous system. Demyelination produces alterations in saltatory conduction, slowed conduction velocity, and a predisposition to conduction block. An estimated 60-80% of MS patients experience temporary worsening of clinical signs and neurological symptoms with heat exposure. Additionally, MS may produce impaired neural control of autonomic and endocrine functions. This review focuses on five main themes regarding the current understanding of thermoregulatory dysfunction in MS: 1) heat sensitivity; 2) central regulation of body temperature; 3) thermoregulatory effector responses; 4) heat-induced fatigue; and 5) countermeasures to improve or maintain function during thermal stress. Heat sensitivity in MS is related to the detrimental effects of increased temperature on action potential propagation in demyelinated axons, resulting in conduction slowing and/or block, which can be quantitatively characterized using precise measurements of ocular movements. MS lesions can also occur in areas of the brain responsible for the control and regulation of body temperature and thermoregulatory effector responses, resulting in impaired neural control of sudomotor pathways or neural-induced changes in eccrine sweat glands, as evidenced by observations of reduced sweating responses in MS patients. Fatigue during thermal stress is common in MS and results in decreased motor function and increased symptomatology likely due to impairments in central conduction. Although not comprehensive, some evidence exists concerning treatments (cooling, precooling, and pharmacological) for the MS patient to preserve function and decrease symptom worsening during heat stress. PMID:20671034

  11. Neuroimaging in multiple sclerosis.

    PubMed

    Zivadinov, Robert; Cox, Jennifer L

    2007-01-01

    Conventional magnetic resonance imaging (MRI) has routinely been used to improve the accuracy of multiple sclerosis (MS) diagnosis and prognosis. Metrics derived from conventional MRI are now routinely used to detect therapeutic effects and extend clinical observations. However, conventional MRI measures, such as the use of lesion volume and count of gadolinium-enhancing and T2 lesions, have insufficient sensitivity and specificity to reveal the true degree of pathological changes occurring in MS. They cannot distinguish between inflammation, edema, demyelination, Wallerian degeneration, and axonal loss. In addition, they do not show a reliable correlation with clinical measures of disability and do not provide a complete assessment of therapeutic outcomes. Recent neuropathologic studies of typical chronic MS brains reveal macroscopic demyelination in cortical and deep gray matter (GM) that cannot be detected by currently available MRI techniques. Therefore, there is a pressing need for the development of newer MRI techniques to detect these lesions. Newer metrics of MRI analysis, including T1-weighted hypointense lesions, central nervous system atrophy measures, magnetization transfer imaging, magnetic resonance spectroscopy, and diffusion tensor imaging, are able to capture a more global picture of the range of tissue alterations caused by inflammation and neurodegeneration. At this time, they provide the only proof--albeit indirect--that important occult pathology is occurring in the GM. However, evidence is increasing that these nonconventional MRI measures correlate better with both existing and developing neurological impairment and disability when compared to conventional metrics. PMID:17531854

  12. Progressive multiple sclerosis

    PubMed Central

    Ontaneda, Daniel; Fox, Robert J.

    2015-01-01

    Purpose to Review To highlight the pathological features and clinical aspects of progressive multiple sclerosis (PMS). To highlight results of clinical trial experience to date and review ongoing clinical trials and perspective new treatment options. Explain the challenges of clinical trial design in PMS. Recent Findings MS has been identified as a chronic immune mediated disease, and the progressive phase of the disease appears to have significant neurodegenerative mechanisms. The classification of the course of PMS has been re-organized into categories of active vs. inactive inflammatory disease and the presence vs. absence of gradual disease progression. This differentiation allows clearer conceptualization of PMS and possibly even more efficient recruitment of PMS subjects into clinical trials. Clinical trial experience to date in PMS has been negative with anti-inflammatory medications used in relapsing MS. Simvastatin was recently tested in a phase II trial and showed a 43% reduction on annualized atrophy progression in secondary progressive MS. Ongoing PMS trials are currently being conducted with the phosphodiesterase inhibitor ibudilast, S1P modulator siponimod, and anti-B-cell therapy ocrelizumab. Several efforts for development of outcome measures in PMS are ongoing. Summary PMS represents a significant challenge, as the pathogenesis of the disease is not well understood, no validated outcome metrics have been established, and clinical trial experience to date has been disappointing. Advances in the understanding of the disease and lessons learned in previous clinical trials are paving the way for successful development of disease modifying agents for this disease. PMID:25887766

  13. Thermoregulation in multiple sclerosis

    PubMed Central

    Wilson, Thad E.; White, Andrea T.; Frohman, Elliot M.

    2010-01-01

    Multiple sclerosis (MS) is a progressive neurological disorder that disrupts axonal myelin in the central nervous system. Demyelination produces alterations in saltatory conduction, slowed conduction velocity, and a predisposition to conduction block. An estimated 60–80% of MS patients experience temporary worsening of clinical signs and neurological symptoms with heat exposure. Additionally, MS may produce impaired neural control of autonomic and endocrine functions. This review focuses on five main themes regarding the current understanding of thermoregulatory dysfunction in MS: 1) heat sensitivity; 2) central regulation of body temperature; 3) thermoregulatory effector responses; 4) heat-induced fatigue; and 5) countermeasures to improve or maintain function during thermal stress. Heat sensitivity in MS is related to the detrimental effects of increased temperature on action potential propagation in demyelinated axons, resulting in conduction slowing and/or block, which can be quantitatively characterized using precise measurements of ocular movements. MS lesions can also occur in areas of the brain responsible for the control and regulation of body temperature and thermoregulatory effector responses, resulting in impaired neural control of sudomotor pathways or neural-induced changes in eccrine sweat glands, as evidenced by observations of reduced sweating responses in MS patients. Fatigue during thermal stress is common in MS and results in decreased motor function and increased symptomatology likely due to impairments in central conduction. Although not comprehensive, some evidence exists concerning treatments (cooling, precooling, and pharmacological) for the MS patient to preserve function and decrease symptom worsening during heat stress. PMID:20671034

  14. Tuberous sclerosis with pulmonary involvement.

    PubMed Central

    Liberman, B. A.; Chamberlain, D. W.; Goldstein, R. S.

    1984-01-01

    Pulmonary tuberous sclerosis produced interstitial disease in a woman with normal-sized lungs; numerous hemosiderin-laden macrophages were found in the fluid obtained through bronchoalveolar lavage. The pathological changes seen in the lungs were identical to those of pulmonary lymphangiomyomatosis, in which the constellation of clinical signs usually found in tuberous sclerosis is absent. The two conditions are sufficiently similar in clinical presentation, pathological changes and prognosis to be considered variants of the same disease. The recent findings of progestin receptors in lung tissue from patients with pulmonary lymphangiomyomatosis will likely direct future management towards hormonal manipulation. Images FIG. 1 FIG. 2 FIG. 3 PMID:6692213

  15. [Current description of multiple sclerosis].

    PubMed

    Río, Jordi; Montalbán, Xavier

    2014-12-01

    Multiple sclerosis is a multifocal demyelinating disease leading to progressive neurodegeneration caused by an autoimmune response in genetically predisposed individuals. In the last few years, the knowledge and management of this disease has been revolutionized by a series of findings. The present article reviews pathological features of the disease, in which cortical involvement is increasingly implicated, and aspects related to novel pathogenic mechanisms, such as the role of the microbiota in the genesis of multiple sclerosis, as well as recent contributions from the fields of epidemiology and genetics. Also reviewed are the latest diagnostic criteria, which currently allow a much earlier diagnosis, with clear therapeutic implications. PMID:25732942

  16. Zinc in Multiple Sclerosis

    PubMed Central

    Frederiksen, Jette Lautrup

    2016-01-01

    In the last 35 years, zinc (Zn) has been examined for its potential role in the disease multiple sclerosis (MS). This review gives an overview of the possible role of Zn in the pathogenesis of MS as well as a meta-analysis of studies having measured Zn in serum or plasma in patients with MS. Searching the databases PubMed and EMBASE as well as going through reference lists in included articles 24 studies were found measuring Zn in patients with MS. Of these, 13 met inclusion criteria and were included in the meta-analysis. The result of the meta-analysis shows a reduction in serum or plasma Zn levels in patients with MS with a 95% CI of [−3.66, −0.93] and a p value of .001 for the difference in Zn concentration in μM. One of six studies measuring cerebrospinal fluid, Zn levels found a significant increase in patients with MS with controls. The studies measuring whole blood and erythrocyte Zn levels found up to several times higher levels of Zn in patients with MS compared with healthy controls with decreasing levels during attacks in relapsing-remitting MS patients. Future studies measuring serum or plasma Zn are encouraged to analyze their data through homogenous MS patient subgroups on especially age, sex, and disease subtype since the difference in serum or plasma Zn in these subgroups have been found to be significantly different. It is hypothesized that local alterations of Zn may be actively involved in the pathogenesis of MS. PMID:27282383

  17. Injectable Multiple Sclerosis Medications

    PubMed Central

    Tran, Zung Vu

    2012-01-01

    Although injection-site reactions (ISRs) occur with US Food and Drug Administration–approved injectable disease-modifying therapies (DMTs) for multiple sclerosis, there are currently few reports of real-world data on ISR management strategies or possible correlations between ISRs and patient demographics, disease characteristics, and missed injections. Patient-reported data on the use of DMTs, patient demographic and disease characteristics, missed injections, and ISR reduction strategies were collected via e-mail, a patient registry (www.ms-cam.org), and a Web-based survey. Of the 1380 respondents, 1201 (87%) indicated that they had used injectable DMTs, of whom 377 (31%) had used intramuscular (IM) interferon beta-1a (IFNβ-1a), 172 (14%) had used subcutaneous (SC) IFNβ-1a, 183 (15%) had used SC IFNβ-1b, and 469 (39%) had used glatiramer acetate (GA). The majority of respondents were older (73% were ≥40 years), female (79%), married or living with a partner (72%), white (94%), and nonsmoking (82%). Injection-site reaction incidence, grouped according to severity, varied among DMTs, with IM IFNβ-1a causing significantly (P < .001) fewer mild, moderate, or severe ISRs than the other therapies. Female sex and younger age were significantly (P < .05) associated with more moderate ISRs among users of IM IFNβ-1a, SC IFNβ-1b, and GA. Nonwhites reported severe ISRs more often than whites. For all DMTs injection-site massage and avoidance of sensitive sites were the most frequently used strategies to minimize ISRs. These data may help identify patients with characteristics associated with a higher risk for ISRs, allowing health-care professionals to provide anticipatory guidance to patients at risk for decreased adherence or discontinuation. PMID:24453732

  18. Amyotrophic lateral sclerosis mimic syndromes

    PubMed Central

    Ghasemi, Majid

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) misdiagnosis has many broad implications for the patient and the neurologist. Potentially curative treatments exist for certain ALS mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. Hence, it is important to exclude similar conditions. In this review, we discuss some of the important mimics of ALS. PMID:27326363

  19. Hippocampal Sclerosis: Causes and Prevention.

    PubMed

    Walker, Matthew Charles

    2015-06-01

    Hippocampal sclerosis is the commonest cause of drug-resistant epilepsy in adults, and is associated with alterations to structures and networks beyond the hippocampus.In addition to being a cause of epilepsy, the hippocampus is vulnerable to damage from seizure activity. In particular, prolonged seizures (status epilepticus) can result in hippocampal sclerosis. The hippocampus is also vulnerable to other insults including traumatic brain injury, and inflammation. Hippocampal sclerosis can occur in association with other brain lesions; the prevailing view is that it is probably a secondary consequence. In such instances, successful surgical treatment usually involves the resection of both the lesion and the involved hippocampus. Experimental data have pointed to numerous neuroprotective strategies to prevent hippocampal sclerosis. Initial neuroprotective strategies aimed at glutamate receptors may be effective, but later, metabolic pathways, apoptosis, reactive oxygen species, and inflammation are involved, perhaps necessitating the use of interventions aimed at multiple targets. Some of the therapies that we use to treat status epilepticus may neuroprotect. However, prevention of neuronal death does not necessarily prevent the later development of epilepsy or cognitive deficits. Perhaps, the most important intervention is the early, aggressive treatment of seizure activity, and the prevention of prolonged seizures. PMID:26060898

  20. Childhood Multiple Sclerosis: A Review

    ERIC Educational Resources Information Center

    Waldman, Amy; O'Connor, Erin; Tennekoon, Gihan

    2006-01-01

    Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) that is increasingly recognized as a disease that affects children. Similar to adult-onset MS, children present with visual and sensory complaints, as well as weakness, spasticity, and ataxia. A lumbar puncture can be helpful in diagnosing MS when…

  1. Defining secondary progressive multiple sclerosis.

    PubMed

    Lorscheider, Johannes; Buzzard, Katherine; Jokubaitis, Vilija; Spelman, Tim; Havrdova, Eva; Horakova, Dana; Trojano, Maria; Izquierdo, Guillermo; Girard, Marc; Duquette, Pierre; Prat, Alexandre; Lugaresi, Alessandra; Grand'Maison, François; Grammond, Pierre; Hupperts, Raymond; Alroughani, Raed; Sola, Patrizia; Boz, Cavit; Pucci, Eugenio; Lechner-Scott, Jeanette; Bergamaschi, Roberto; Oreja-Guevara, Celia; Iuliano, Gerardo; Van Pesch, Vincent; Granella, Franco; Ramo-Tello, Cristina; Spitaleri, Daniele; Petersen, Thor; Slee, Mark; Verheul, Freek; Ampapa, Radek; Amato, Maria Pia; McCombe, Pamela; Vucic, Steve; Sánchez Menoyo, José Luis; Cristiano, Edgardo; Barnett, Michael H; Hodgkinson, Suzanne; Olascoaga, Javier; Saladino, Maria Laura; Gray, Orla; Shaw, Cameron; Moore, Fraser; Butzkueven, Helmut; Kalincik, Tomas

    2016-09-01

    A number of studies have been conducted with the onset of secondary progressive multiple sclerosis as an inclusion criterion or an outcome of interest. However, a standardized objective definition of secondary progressive multiple sclerosis has been lacking. The aim of this work was to evaluate the accuracy and feasibility of an objective definition for secondary progressive multiple sclerosis, to enable comparability of future research studies. Using MSBase, a large, prospectively acquired, global cohort study, we analysed the accuracy of 576 data-derived onset definitions for secondary progressive multiple sclerosis and first compared these to a consensus opinion of three neurologists. All definitions were then evaluated against 5-year disease outcomes post-assignment of secondary progressive multiple sclerosis: sustained disability, subsequent sustained progression, positive disability trajectory, and accumulation of severe disability. The five best performing definitions were further investigated for their timeliness and overall disability burden. A total of 17 356 patients were analysed. The best definition included a 3-strata progression magnitude in the absence of a relapse, confirmed after 3 months within the leading Functional System and required an Expanded Disability Status Scale step ≥4 and pyramidal score ≥2. It reached an accuracy of 87% compared to the consensus diagnosis. Seventy-eight per cent of the identified patients showed a positive disability trajectory and 70% reached significant disability after 5 years. The time until half of all patients were diagnosed was 32.6 years (95% confidence interval 32-33.6) after disease onset compared with the physicians' diagnosis at 36 (35-39) years. The identified patients experienced a greater disease burden [median annualized area under the disability-time curve 4.7 (quartiles 3.6, 6.0)] versus non-progressive patients [1.8 (1.2, 1.9)]. This objective definition of secondary progressive multiple

  2. Amyotrophic lateral sclerosis

    PubMed Central

    Wijesekera, Lokesh C; Leigh, P Nigel

    2009-01-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year) and prevalence (average 5.2 per100,000) are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio~1.5:1). Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1–2 years. Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. Most ALS cases are sporadic but 5–10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2–5% have mutations of the TARDBP (TDP-43) gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease) by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43 immunoreactive inclusions in

  3. Epidemiology of multiple sclerosis.

    PubMed

    Leray, E; Moreau, T; Fromont, A; Edan, G

    2016-01-01

    Multiple sclerosis (MS) is the most frequently seen demyelinating disease, with a prevalence that varies considerably, from high levels in North America and Europe (>100/100,000 inhabitants) to low rates in Eastern Asia and sub-Saharan Africa (2/100,000 population). Knowledge of the geographical distribution of the disease and its survival data, and a better understanding of the natural history of the disease, have improved our understanding of the respective roles of endogenous and exogenous causes of MS. Concerning mortality, in a large French cohort of 27,603 patients, there was no difference between MS patients and controls in the first 20 years of the disease, although life expectancy was reduced by 6-7 years in MS patients. In 2004, the prevalence of MS in France was 94.7/100,000 population, according to data from the French National Health Insurance Agency for Salaried Workers (Caisse nationale d'assurance maladie des travailleurs Salariés [CNAM-TS]), which insures 87% of the French population. This prevalence was higher in the North and East of France. In several countries, including France, the gender ratio for MS incidence (women/men) went from 2/1 to 3/1 from the 1950s to the 2000s, but only for the relapsing-remitting form. As for risk factors of MS, the most pertinent environmental factors are infection with Epstein-Barr virus (EBV), especially if it arises after childhood and is symptomatic. The role of smoking in MS risk has been confirmed, but is modest. In contrast, vaccines, stress, traumatic events and allergies have not been identified as risk factors, while the involvement of vitamin D has yet to be confirmed. From a genetic point of view, the association between HLA-DRB1*15:01 and a high risk of MS has been known for decades. More recently, immunogenetic markers have been identified (IL2RA, IL7RA) and, in particular thanks to studies of genome-wide associations, more than 100 genetic variants have been reported. Most of these are involved in

  4. Multiple sclerosis - New treatment modalities

    PubMed Central

    Totaro, Rocco; Di Carmine, Caterina; Marini, Carmine; Carolei, Antonio

    2015-01-01

    Ever since the introduction of the first disease modifying therapies, the concept of multiple sclerosis treatment algorithms developed ceaselessly. The increasing number of available drugs is paralleled by impelling issue of ensuring the most appropriate treatment to the right patient at the right time. The purpose of this review is to describe novel agents recently approved for multiple sclerosis treatment, namely teriflunomide, alemtuzumab and dimethylfumarate, focusing on mechanism of action, efficacy data in experimental setting, safety and tolerability. The place in therapy of newer treatment implies careful balancing of risk-benefit profile as well as accurate patient selection. Hence the widening of therapeutic arsenal provides greater opportunity for personalized therapy but also entails a complex trade-off between efficacy, tolerability, safety and eventually patient preference. PMID:26831413

  5. [Special cases of multiple sclerosis].

    PubMed

    Mendibe Bilbao, Mar

    2014-12-01

    Multiple sclerosis is a chronic disease that usually occurs in young people and affects them for the rest of their lives. Patients and their families usually have a series of doubts and questions on everyday matters and all types of situations that occur during the distinct stages of life and which can influence the course of the disease. The aim of this review is to provide specific answers to these questions. PMID:25732948

  6. Genetic factors and systemic sclerosis.

    PubMed

    Murdaca, Giuseppe; Contatore, Miriam; Gulli, Rossella; Mandich, Paola; Puppo, Francesco

    2016-05-01

    Systemic sclerosis (SSc) is a rare connective tissue disease of unknown etiology characterized by chronic inflammation and fibrosis of the skin, vascular abnormalities, and variable involvement of organs including kidneys, gastrointestinal tract, heart, and lungs. SSc shows a complex etiology in which both environmental and genetic factors seem to influence the onset and outcome of the disease. We provide an extensive overview of the genetic factors and epigenetic modifications and what their knowledge has revealed in terms of etiopathogenesis of SSc. PMID:26826434

  7. Bipolar disorder and multiple sclerosis.

    PubMed

    Ybarra, Mariana Inés; Moreira, Marcos Aurélio; Araújo, Carolina Reis; Lana-Peixoto, Marco Aurélio; Teixeira, Antonio Lucio

    2007-12-01

    Bipolar disorder may be overrepresented in multiple sclerosis (MS) patients. Although research in this area is limited, studies assessing the nature of this association have focused on genetic aspects, adverse reaction to drugs and brain demyelinating lesions. Herein we report three patients with MS that also presented bipolar disorder. The coexistence of neurological and psychiatric symptoms in most MS relapses highlights the relevance of biological factors in the emergence of mood disorders in these patients. PMID:18345425

  8. Coping with Multiple Sclerosis Scale

    PubMed Central

    Parkerson, Holly A.; Kehler, Melissa D.; Sharpe, Donald

    2016-01-01

    Background: The Coping with Multiple Sclerosis Scale (CMSS) was developed to assess coping strategies specific to multiple sclerosis (MS). Despite its wide application in MS research, psychometric support for the CMSS remains limited to the initial factor analytic investigation by Pakenham in 2001. Methods: The current investigation assessed the factor structure and construct validity of the CMSS. Participants with MS (N = 453) completed the CMSS, as well as measures of disability related to MS (Multiple Sclerosis Impact Scale), quality of life (World Health Organization Quality of Life Brief Scale), and anxiety and depression (Hospital Anxiety and Depression Scale). Results: The original factor structure reported by Pakenham was a poor fit to the data. An alternate seven-factor structure was identified using exploratory factor analysis. Although there were some similarities with the existing CMSS subscales, differences in factor content and item loadings were found. Relationships between the revised CMSS subscales and additional measures were assessed, and the findings were consistent with previous research. Conclusions: Refinement of the CMSS is suggested, especially for subscales related to acceptance and avoidance strategies. Until further research is conducted on the revised CMSS, it is recommended that the original CMSS continue to be administered. Clinicians and researchers should be mindful of lack of support for the acceptance and avoidance subscales and should seek additional scales to assess these areas. PMID:27551244

  9. Systemic Sclerosis: Commonly Asked Questions by Rheumatologists

    PubMed Central

    Young, Amber; Khanna, Dinesh

    2016-01-01

    Systemic sclerosis is a rare autoimmune disorder with significant morbidity and mortality due to multi-organ system involvement. Early diagnosis and screening for organ involvement is critical as earlier treatment appears to improve function and may impact mortality. The purpose of this article is to address some of the commonly asked questions by rheumatologists on systemic sclerosis. PMID:25807095

  10. Demyelination of subcortical nuclei in multiple sclerosis

    NASA Astrophysics Data System (ADS)

    Krutenkova, E.; Aitmagambetova, G.; Khodanovich, M.; Bowen, J.; Gangadharan, B.; Henson, L.; Mayadev, A.; Repovic, P.; Qian, P.; Yarnykh, V.

    2016-02-01

    Myelin containing in basal ganglia in multiple sclerosis patients was evaluated using new noninvasive quantitative MRI method fast whole brain macromolecular proton fraction mapping. Myelin level in globus pallidus and putamen significantly decreased in multiple sclerosis patients as compared with healthy control subjects but not in substantia nigra and caudate nucleus.

  11. Patient-Reported Outcome Measures in Systemic Sclerosis (Scleroderma).

    PubMed

    Pellar, Russell E; Tingey, Theresa M; Pope, Janet Elizabeth

    2016-05-01

    Scleroderma (systemic sclerosis) is a rare autoimmune connective tissue disease that can damage multiple organs and reduce quality of life. Patient-reported outcome measures capture the patient's perspective. Some measures are specific to systemic sclerosis and others are general. Patient-reported outcomes in systemic sclerosis are important to aid in understanding the impact of systemic sclerosis on patients. PMID:27133491

  12. Endocannabinoids in Multiple Sclerosis and Amyotrophic Lateral Sclerosis.

    PubMed

    Pryce, Gareth; Baker, David

    2015-01-01

    There are numerous reports that people with multiple sclerosis (MS) have for many years been self-medicating with illegal street cannabis or more recently medicinal cannabis to alleviate the symptoms associated with MS and also amyotrophic lateral sclerosis (ALS). These anecdotal reports have been confirmed by data from animal models and more recently clinical trials on the ability of cannabinoids to alleviate limb spasticity, a common feature of progressive MS (and also ALS) and neurodegeneration. Experimental studies into the biology of the endocannabinoid system have revealed that cannabinoids have efficacy, not only in symptom relief but also as neuroprotective agents which may slow disease progression and thus delay the onset of symptoms. This review discusses what we now know about the endocannabinoid system as it relates to MS and ALS and also the therapeutic potential of cannabinoid therapeutics as disease-modifying or symptom control agents, as well as future therapeutic strategies including the potential for slowing disease progression in MS and ALS. PMID:26408162

  13. Newer therapies for multiple sclerosis

    PubMed Central

    Coles, Alasdair

    2015-01-01

    The newer immunotherapies for multiple sclerosis (fingolimod, natalizumab, dimethyl fumarate, teriflunomide, alemtuzumab) offer advantages of efficacy or tolerability over the injectable therapies of the 1990s. But they also have greater risks. As further treatments emerge (daclizumab and ocrelizumab are likely to be licensed in the next two years), the physician needs to be able to place them within a complex landscape of drugs and a specific treatment strategy, which may be an “escalation” or “induction” approach. Whilst on treatment, neurologist and patient need to be vigilant to signs of disease breakthrough or adverse effects. PMID:26538846

  14. Newer therapies for multiple sclerosis.

    PubMed

    Coles, Alasdair

    2015-09-01

    The newer immunotherapies for multiple sclerosis (fingolimod, natalizumab, dimethyl fumarate, teriflunomide, alemtuzumab) offer advantages of efficacy or tolerability over the injectable therapies of the 1990s. But they also have greater risks. As further treatments emerge (daclizumab and ocrelizumab are likely to be licensed in the next two years), the physician needs to be able to place them within a complex landscape of drugs and a specific treatment strategy, which may be an "escalation" or "induction" approach. Whilst on treatment, neurologist and patient need to be vigilant to signs of disease breakthrough or adverse effects. PMID:26538846

  15. Symptomatic management in multiple sclerosis

    PubMed Central

    Shah, Pushkar

    2015-01-01

    Multiple sclerosis (MS) is the commonest cause of disability in young adults. While there is increasing choice and better treatments available for delaying disease progression, there are still, very few, effective symptomatic treatments. For many patients such as those with primary progressive MS (PPMS) and those that inevitably become secondary progressive, symptom management is the only treatment available. MS related symptoms are complex, interrelated, and can be interdependent. It requires good understanding of the condition, a holistic multidisciplinary approach, and above all, patient education and empowerment. PMID:26538847

  16. Estrogen Treatment in Multiple Sclerosis

    PubMed Central

    Gold, Stefan M; Voskuhl, Rhonda R

    2009-01-01

    Currently available treatments for multiple sclerosis reduce inflammatory lesions on MRI and decrease clinical relapses but have limited effects on disability. Novel treatment options that target both the inflammatory as well as the neurodegenerative component of the disease are therefore needed. A growing body of evidence from basic science and clinical studies supports the therapeutic potential of estrogens in MS. Mechanisms of action include both immunomodulatory and directly neuroprotective pathways. A first pilot trial of oral estriol treatment showed encouraging results. There are now several phase II trials underway to further determine the efficacy of estrogen treatment in MS. PMID:19539954

  17. Systematic imaging review: Multiple Sclerosis

    PubMed Central

    Katdare, Aparna; Ursekar, Meher

    2015-01-01

    Multiple sclerosis (MS) is a chronic, inflammatory disease of the central nervous system characterised by immune-mediated demyelination, and is a leading cause of neurological disability worldwide. It has a wide spectrum of clinical presentations which overlap with other neurological conditions many times. Further, the radiological array of findings in MS can also be confused for multiple other conditions, leading to the need to look for the more typical findings, and interpret these in close conjunction with the clinical picture including temporal evolution. This review aims to revisit the MRI findings in MS, including recent innovations in imaging, and to help distinguish MS from its mimics. PMID:26538845

  18. [Driving ability with multiple sclerosis].

    PubMed

    Küst, J; Dettmers, C

    2014-07-01

    Driving is an important issue for young patients, especially for those whose walking capacity is impaired. Driving might support the patient's social and vocational participation. The question as to whether a patient with multiple sclerosis (MS) is restricted in the ability to drive a car depends on neurological and neuropsychological deficits, self-awareness, insight into deficits and ability to compensate for loss of function. Because of the enormous variability of symptoms in MS the question is highly individualized. A practical driving test under supervision of a driving instructor (possibly accompanied by a neuropsychologist) might be helpful in providing both patient and relatives adequate feedback on driving abilities. PMID:24906536

  19. Neurotherapeutic Strategies for Multiple Sclerosis.

    PubMed

    Frohman, Teresa C; Beh, Shin C; Kildebeck, Eric J; Narayan, Ram; Treadaway, Katherine; Greenberg, Benjamin; Frohman, Elliot M

    2016-08-01

    Multiple sclerosis (MS) is the most common disabling neurologic disease of young adults. There are now 16 US Food and Drug Administration (FDA)-approved disease-modifying therapies for MS as well as a cohort of other agents commonly used in practice when conventional therapies prove inadequate. This article discusses approved FDA therapies as well as commonly used practice-based therapies for MS, as well as those therapies that can be used in patients attempting to become pregnant, or in patients with an established pregnancy, who require concomitant treatment secondary to recalcitrant disease activity. PMID:27445239

  20. Musculoskeletal involvement in systemic sclerosis.

    PubMed

    Lóránd, Veronika; Czirják, László; Minier, Tünde

    2014-10-01

    Musculoskeletal (MSK) involvement is a very frequent manifestation of patients with systemic sclerosis (SSc). There are several reports about clinical trials assessing musculoskeletal involvement in SSc. However, only few controlled studies have been conducted. The prevalence of musculoskeletal symptoms, clinical and radiographic findings has been assessed. The most important articular (arthralgia, synovitis, contractures), tendon (tendon friction rubs, tenosynovitis) and muscular manifestations (myalgia, muscle weakness, myositis) should be carefully evaluated during the assessment of SSc patients, because these are not only common, but substantially influence the quality of life and some of them also have predictive value concerning disease activity and severity. PMID:25179276

  1. Gastrointestinal complications of systemic sclerosis

    PubMed Central

    Tian, Xin-Ping; Zhang, Xuan

    2013-01-01

    Systemic sclerosis is an autoimmune disease characterized by progressive skin thickening and tightness. Pulmonary interstitial fibrosis and kidney damage are the most important indicators for mortality; however, the gastrointestinal tract is the most commonly damaged system. Virtually all parts of the gastrointestinal (GI) tract can be involved, although the esophagus is the most frequently reported. The mechanisms that cause such extensive damage are generally unclear, but vascular changes, immunological abnormalities, excessive accumulation of collagen in the submucosa, smooth muscle atrophy and neuropathy may participate because these are the most common histological findings in biopsies and autopsies. Most patients with GI tract involvement complain about dyspepsia, nausea, vomiting, abdominal bloating/distension, and fecal incontinence. These symptoms are generally mild during the early stage of the disease and are likely ignored by physicians. As the disease becomes more advanced, however, patient quality of life is markedly influenced, whereby malnutrition and shortened survival are the usual consequences. The diagnosis for systemic sclerosis is based on manometry measurements and an endoscopy examination. Supportive and symptomatic treatment is the main therapeutic strategy; however, an early diagnosis is critical for successful management. PMID:24222949

  2. [Tuberous sclerosis and trigonoseptal tumors].

    PubMed

    Bret, P; Remond, J; Pialat, J; Lapras, C; Fischer, G

    1988-01-01

    A series of 9 patients having a tuberous sclerosis associated to a midline ventricular tumour is reported. Microscopically, the presence of giant cells within the lesion is a major characteristic of the disease. The origin of these subependymal giant cells tumours is questionable since astrocytic, neuronal and ependymal features have been noted by several authors providing various denominations. In the literature and in our series as well, the intra-ventricular tumour presented as the initial manifestation of the disease in most of cases, usually with increased intra-cranial pressure symptoms. On CT, the tumour arises in the area of the foramen of Monro and enhances after contrast injection while the other intracranial anomalies of the disease do not enhance. In 8 patients, a direct transcortical transventricular approach was used. 1 patient was treated by shunt only. The results were evaluated according to the degree of the preoperative neuropsychological impairement: there were 3 deaths, 3 "excellent", 2 "fair" and 1 "poor" results. The problem of the surgical indication raises mainly in patients in whom the diagnosis of the tuberous sclerosis is ascertained prior to the diagnosis of the tumour. Since acute C.S.F. blockage or intra-ventricular bleeding may occur during "conservative" treatment, direct approach seems preferable. PMID:3200364

  3. Multiple sclerosis and oral health: an update.

    PubMed

    Elemek, Eser; Almas, Khalid

    2013-04-01

    Multiple sclerosis is a chronic, neurodegenerative disease seen in 69.1 per 100,000 person-years in the world. As multiple sclerosis and periodontal disease both have an inflammatory origin, dental professionals should be aware of the link between these two diseases. In patients unable to carry out effective oral hygiene, dental treatment should be done by dental hygienists and/or dentists to prevent dental caries and periodontal disease. It is hoped that by identifying multiple sclerosis patients in dental clinics, the required support and treatment could be provided to these patients to improve their quality of life and that dental professionals would feel comfortable treating patients with multiple sclerosis. PMID:23767394

  4. Association between polyneuritis and multiple sclerosis.

    PubMed Central

    Forrester, C; Lascelles, R G

    1979-01-01

    We report two cases in which multiple sclerosis and inflammatory polyneuritis occurred separately, and suggest that this association supports the idea that the two conditions may have an aetiological link. PMID:228012

  5. Multiple sclerosis: Experimental and clinical aspects

    SciTech Connect

    Scheinberg, L.; Raine, C.S.

    1984-01-01

    This book discusses the experimental and clinical aspects of multiple sclerosis. Specifically discussed are - Association of Epstein Barr Virus with pathology of central nervous system; immunology of viruses; and immunosuppression.

  6. Genetics Home Reference: amyotrophic lateral sclerosis

    MedlinePlus

    ... amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum Mol Genet. 2014 Jul 1;23(13): ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  7. Disease Modifying Therapy in Multiple Sclerosis

    PubMed Central

    Williams, U. E.; Oparah, S. K.; Philip-Ephraim, E. E.

    2014-01-01

    Multiple sclerosis is an autoimmune disease of the central nervous system characterized by inflammatory demyelination and axonal degeneration. It is the commonest cause of permanent disability in young adults. Environmental and genetic factors have been suggested in its etiology. Currently available disease modifying drugs are only effective in controlling inflammation but not prevention of neurodegeneration or accumulation of disability. Search for an effective neuroprotective therapy is at the forefront of multiple sclerosis research. PMID:27355035

  8. Class II HLA antigens in multiple sclerosis.

    PubMed Central

    Miller, D H; Hornabrook, R W; Dagger, J; Fong, R

    1989-01-01

    HLA typing in Wellington revealed a stronger association of multiple sclerosis with DR2 than with DQw1. The association with DQw1 appeared to be due to linkage disequilibrium of this antigen with DR2. These results, when considered in conjunction with other studies, are most easily explained by the hypothesis that susceptibility to multiple sclerosis is influenced by multiple risk factors, with DR2 being an important risk factor in Caucasoid populations. PMID:2732726

  9. Personality aspects in multiple sclerosis.

    PubMed

    Diana, R; Grosz, A; Mancini, E

    1985-12-01

    To test the claim that peculiar personality bias is detectable in multiple sclerosis (MS) we used the Szondi test to investigate the psychodynamic aspects of 110 MS patients in comparison with 200 healthy subjects. MS patients appeared to have a greater need for love in a passive form than normal people, rigid defense mechanisms, difficulty in resolving their inner conflicts either by sublimation or by internalization of satisfactory new emotional experiences, feelings of autoaggressiveness, and many symptoms of depression. Some of these aspects correlate with the severity of the disease, others seem to date back to early childhood as peculiar personality patterns. An investigation of childhood events in 110 controls confirmed that MS patients had had many more unhappy experiences in childhood than might commonly be expected. Further, the oft-reported psychiatric troubles preceding MS clinical onset suggest that at least in some MS patients there are specific gaps in personality structure dating back to early phases of their development. PMID:4086262

  10. Multiple sclerosis genetics is dead.

    PubMed

    Hawkes, Christopher H

    2013-07-01

    This review addresses several areas of contention related to the genetic theory for multiple sclerosis (MS). It is argued (a) that the concept of MS as a 'complex disease' has little value, (b) just because a disorder is found in multiple families, it is not necessarily genetically based, (c) although twin studies are claimed to show that MS is '30% genetically based' this concept derives from widely varying data, (d) although genome-wide association studies (GWAS) suggest the presence of several MS related genes this has yet to be proven, (e) monozygotic twins discordant for MS should have a different genetic sequence if the disorder has a genetic basis but data so far suggest this may not be correct and (f) epigenetics or epistasis are contentious topics and may not provide the answer. It is concluded that the role of genetics in MS etiology may be overstated and that attention should now be devoted to environmental causes. PMID:25877721

  11. Oral agents in multiple sclerosis.

    PubMed

    Lorefice, L; Fenu, G; Frau, J; Coghe, G C; Marrosu, M G; Cocco, E

    2015-01-01

    Multiple sclerosis (MS) is a complex autoimmune disease of the central nervous system. Disease-modifying drugs licensed for MS treatment have been developed to reduce relapse rates and halt disease progression. The majority of current MS drugs involve regular, parenteral administration, affecting long-term adherence and thus reducing treatment efficacy. Over the last two decades great progress has been made towards developing new MS therapies with different modes of action and biologic effects. In particular, oral drugs have generated much interest because of their convenience and positive impact on medication adherence. Fingolimod was the first launched oral treatment for relapsing-remitting MS; recently, Teriflunomide and Dimethyl fumarate have also been approved as oral disease-modifying agents. In this review, we summarize and discuss the history, pharmacodynamics, efficacy, and safety of oral agents that have been approved or are under development for the selective treatment of MS. PMID:25924620

  12. [Current immunotherapy of multiple sclerosis].

    PubMed

    Paul, F; Ruprecht, K

    2015-08-01

    Following the introduction of interferon beta 1b as the first immunomodulatory therapy for multiple sclerosis (MS) in 1993, there are currently nine substances or substance classes approved for the treatment of MS (i.e. alemtuzumab, azathioprine, dimethyl fumarate, fingolimod, glatiramer acetate, interferon beta, mitoxantrone, natalizumab and teriflunomide). Major developments during the last 5 years include the approval of orally administered medications (i.e. fingolimod, teriflunomide and dimethyl fumarate), a monoclonal antibody (alemtuzumab), as well as glatiramer acetate with an administration frequency three times a week and a pegylated formulation of interferon beta 1a. The broadened therapeutic options enable a more differentiated and individualized therapy of MS; however, evidence-based data for therapeutic decision-making relevant in clinical practice are not always available. Rare but potentially severe and even life-threatening side effects of immunotherapies for MS require continuous pharmacovigilance and adherence to risk management plans. PMID:26253589

  13. [Vitamin D in Multiple Sclerosis].

    PubMed

    Niino, Masaaki; Miyazaki, Yusei

    2015-11-01

    The geographic epidemiology of multiple sclerosis (MS) suggests that low vitamin D levels are a modifiable risk factor. Previous studies have shown that patients with MS have significantly lower vitamin D levels compared with healthy controls. Vitamin D is a potent immunomodulator important for immune function and development, and it offers potential benefits by reducing inflammation. Vitamin D has beneficial effects in experimental autoimmune encephalomyelitis, an animal model of MS. In summation, these studies suggest that vitamin D may have therapeutic potential for MS. This has not been established although preliminary clinical trials for vitamin D in MS look promising. Genetic studies suggest that genes associated with vitamin D are critical susceptible genes for MS. In this review, we discuss current research investigating the association between vitamin D and MS and the issues that need to be resolved. PMID:26560958

  14. Hughes syndrome and multiple sclerosis.

    PubMed

    Uthman, I; Noureldine, M H A; Berjawi, A; Skaf, M; Haydar, A A; Merashli, M; Hughes, G R V

    2015-02-01

    Multiple sclerosis (MS) and antiphospholipid syndrome (APS) share common clinical, laboratory and radiological features. We reviewed all the English papers on MS and APS published in the literature from 1965 to 2014 using PubMed and Google Scholar. We found that APS can mimic antiphospholipid antibodies (aPL)-positive MS in many ways in its clinical presentation. Nevertheless, APS diagnosis, clinical manifestations and management differ from those of MS. aPL were found in MS patients with titers ranging from 2% to 88%. The distribution and volume of lesions on magnetic resonance imaging (MRI) may help to differentiate MS from primary APS. In addition, atypical MS presentation can guide physicians toward an alternative diagnosis, especially when features of thrombosis and/or history of connective tissue disease are present. In that case, an anticoagulation trial could be worthwhile. PMID:25326228

  15. Immunological treatment of multiple sclerosis.

    PubMed

    Diebold, Martin; Derfuss, Tobias

    2016-04-01

    Treatment of multiple sclerosis (MS) has been a challenge since its first description by Charcot. The advent of immunomodulatory drugs in the mid 1990s brought the first big change in the treatment of MS patients. During the last 10 years there has been an ongoing tremendous evolution of novel treatment options for relapsing-remitting MS. These options include monoclonal antibodies, which inhibit migration of lymphocytes (natalizumab), deplete lymphocytes (alemtuzumab), or block the cytokine receptor interleukin (IL)-2 (daclizumab), teriflunomide that inhibits proliferation of activated lymphocytes, fingolimod that modulates the sphingosine-receptor system, and dimethylfumarate that combines features of immunomodulatory and immunosuppressive drugs. The topic of this review is to discuss currently available treatments and provide an outlook into the near future. PMID:27312167

  16. Erectile Dysfunction in Systemic Sclerosis.

    PubMed

    Jaeger, Veronika K; Walker, Ulrich A

    2016-08-01

    Erectile dysfunction (ED) is a major issue in systemic sclerosis (SSc) as it is observed in around 80 to 90 % of men with this connective tissue disease. ED greatly impacts the quality of life and should be actively addressed as a common complication. Whereas ED in the general population is usually associated with risk factors for atherosclerosis as well as cardiovascular disease, the main aetiology of ED in SSc is microangiopathic. In SSc, the blood flow is reduced in the small penile arteries due to corporal fibrosis and myointimal proliferation. There are no data on the prevention of ED in SSc. On-demand phosphodiesterase-5 inhibitors have little effect in improving erectile function, but daily or alternate day regimens of long-acting phosphodiesterase-5 inhibitors provide a measurable, although often limited, benefit. When intracavernous prostaglandin E1 injections are also ineffective, the implantation of a penile prosthesis should be considered as an option. PMID:27402106

  17. Autonomic Dysregulation in Multiple Sclerosis

    PubMed Central

    Pintér, Alexandra; Cseh, Domonkos; Sárközi, Adrienn; Illigens, Ben M.; Siepmann, Timo

    2015-01-01

    Multiple sclerosis (MS) is a chronic, progressive central neurological disease characterized by inflammation and demyelination. In patients with MS, dysregulation of the autonomic nervous system may present with various clinical symptoms including sweating abnormalities, urinary dysfunction, orthostatic dysregulation, gastrointestinal symptoms, and sexual dysfunction. These autonomic disturbances reduce the quality of life of affected patients and constitute a clinical challenge to the physician due to variability of clinical presentation and inconsistent data on diagnosis and treatment. Early diagnosis and initiation of individualized interdisciplinary and multimodal strategies is beneficial in the management of autonomic dysfunction in MS. This review summarizes the current literature on the most prevalent aspects of autonomic dysfunction in MS and provides reference to underlying pathophysiological mechanisms as well as means of diagnosis and treatment. PMID:26213927

  18. Autonomic Dysregulation in Multiple Sclerosis.

    PubMed

    Pintér, Alexandra; Cseh, Domonkos; Sárközi, Adrienn; Illigens, Ben M; Siepmann, Timo

    2015-01-01

    Multiple sclerosis (MS) is a chronic, progressive central neurological disease characterized by inflammation and demyelination. In patients with MS, dysregulation of the autonomic nervous system may present with various clinical symptoms including sweating abnormalities, urinary dysfunction, orthostatic dysregulation, gastrointestinal symptoms, and sexual dysfunction. These autonomic disturbances reduce the quality of life of affected patients and constitute a clinical challenge to the physician due to variability of clinical presentation and inconsistent data on diagnosis and treatment. Early diagnosis and initiation of individualized interdisciplinary and multimodal strategies is beneficial in the management of autonomic dysfunction in MS. This review summarizes the current literature on the most prevalent aspects of autonomic dysfunction in MS and provides reference to underlying pathophysiological mechanisms as well as means of diagnosis and treatment. PMID:26213927

  19. Gastrointestinal involvement in systemic sclerosis.

    PubMed

    Savarino, Edoardo; Furnari, Manuele; de Bortoli, Nicola; Martinucci, Irene; Bodini, Giorgia; Ghio, Massimo; Savarino, Vincenzo

    2014-10-01

    Systemic sclerosis is an autoimmune chronic disease characterised by microvascular, muscular and immunologic abnormalities that lead to progressive and systemic deposition of connective tissue in the skin and internal organs. The gastrointestinal tract is often overlooked by physicians but it is the most affected organ after the skin, from the mouth to the anus. Indeed, 80% of SSc patients may present with gastrointestinal involvement. Gastrointestinal manifestations range from bloating and heartburn to dysphagia and anorectal dysfunction to severe weight loss and malabsorption. However, the gastrointestinal involvement is rarely the direct cause of death, but has great impact on quality of life and leads to several comorbidities that subsequently affect patients' survival. Treatments, including nutritional support and prokinetics provide limited benefits and do not arrest the progressive course of the disease, but earlier detection of gastrointestinal involvement may reduce the risk of complications such as malnutrition. PMID:25179275

  20. Sleep Disorders in Multiple Sclerosis.

    PubMed

    Braley, Tiffany J; Boudreau, Eilis Ann

    2016-05-01

    Recent studies suggest that individuals with multiple sclerosis (MS) are at increased risk for sleep disturbances and that sleep disturbances contribute to fatigue and other chronic symptoms in MS. Although fatigue occurs commonly in people with MS, this symptom is often attributed to MS-specific pathology. Consequently, sleep disorders are often unrecognized and untreated in this population. Timely diagnosis and treatment of sleep problems in MS offer a new opportunity to ameliorate some of the daytime fatigue experienced by patients with MS. To increase this opportunity, the practitioner should be comfortable performing basic screening for common sleep complaints among patients with MS. The objectives of this review are to summarize the latest relevant data on sleep disorders in MS and offer a helpful approach to the identification and workup of the most common sleep problems in this population. Unexplored research avenues and opportunities to address important questions at the interface of sleep and MS are also discussed. PMID:27068547

  1. Erosive Arthropathy in systemic sclerosis

    PubMed Central

    Allali, Fadoua; Tahiri, Latifa; Senjari, Adil; Abouqal, Redouane; Hajjaj-Hassouni, Najia

    2007-01-01

    Background To determine radiological features of arthropathy in systemic sclerosis patients with polyarthritis. Results Forty one women and 5 men were included in this study. The mean age was 41 + 14,2 years, the mean duration of disease was 10,5+ 6,5 years. Thirty seven patients (80%) had radiological abnormalities including joint space narrowing (37%) and erosions (43%). At presentation, the prevalence of radiological foot abnormalities was lower than that of hands (26% vs 79%, p < 0,001). There was no significant difference between patients with (n = 24) and without erosive arthropathy (Joint space narrowing and/or erosion) (n = 22) in terms of cutaneous subtype, organ involvement, calcinosis presence of rheumatoid factor, ANA, Anti-topoisomerase antibodies. Conclusion This study showed an high frequency of erosive arthropathy in our morroccan SSc patients with clinical synovitis. PMID:17888166

  2. Cognitive dysfunction in multiple sclerosis.

    PubMed

    Guimarães, Joana; Sá, Maria José

    2012-01-01

    In Multiple Sclerosis (MS) prevalence studies of community and clinical samples, indicate that 45-60% of patients are cognitively impaired. These cognitive dysfunctions have been traditionally described as heterogeneous, but more recent studies suggest that there is a specific pattern of MS-related cognitive dysfunctions. With the advent of disease-modifying medications for MS and emphasis on early intervention and treatment, detection of cognitive impairment at its earliest stage becomes particularly important. In this review the authors address: the cognitive domains most commonly impaired in MS (memory, attention, executive functions, speed of information processing, and visual-spatial abilities); the pathophysiological mechanism implied in MS cognitive dysfunction and correlated brain MRI features; the importance of neuropsychological assessment of MS patients in different stages of the disease and the influence of its course on cognitive performance; the most used tests and batteries for neuropsychological assessment; therapeutic strategies to improve cognitive abilities. PMID:22654782

  3. Neuropsychiatric manifestations of multiple sclerosis.

    PubMed

    Diaz-Olavarrieta, C; Cummings, J L; Velazquez, J; Garcia de la Cadena, C

    1999-01-01

    The range of neuropsychiatric symptoms in multiple sclerosis (MS) has not been prospectively assessed. The authors, working at a tertiary medical center in Mexico City, used the Neuropsychiatric Inventory (NPI) to evaluate neuropsychiatric symptoms prospectively in 44 MS patients who were stable between relapses and 25 control subjects of similar age, education, and cognitive function. Neuropsychiatric symptoms were present in 95% of patients and 16% of control subjects. Changes present were depressive symptoms (79%), agitation (40%), anxiety (37%), irritability (35%), apathy (20%), euphoria (13%), disinhibition (13%), hallucinations (10%), aberrant motor behavior (9%), and delusions (7%). The only relationships with MRI were between euphoria and hallucinations and moderately severe MRI abnormalities. The authors conclude that diverse types of neuropsychiatric symptoms are common in MS; symptoms are present between exacerbations; and there are variable correlations with MRI abnormalities. PMID:9990556

  4. [Cognitive Impairment in Multiple Sclerosis].

    PubMed

    Niino, Masaaki; Miyazaki, Yusei

    2016-04-01

    While cognitive impairment is a major symptom of multiple sclerosis (MS), it is commonly overlooked. This may be explained by the fact that it is difficult to evaluate cognitive function in patients with MS using screening batteries for the detection of dementia such as the mini-mental state examination. Further more, cognitive impairment in MS typically involves domain-specific deficits such as imparement of sustained attention and information processing speed rather than global cognitive decline. Cognitive impairment may influence the daily living and social lines of affected patients. This review discusses the characteristics of cognitive impairment, appropreate tests to evaluate its symptoms, and the current status of clinical trials for the treatment of MS. PMID:27056855

  5. Care Partners and Multiple Sclerosis

    PubMed Central

    Quig, Mary Elizabeth; Tyry, Tuula; Marrie, Ruth Ann; Cutter, Gary; Shearin, Edward; Johnson, Kamau; Simsarian, James

    2015-01-01

    Background: Caring for someone with multiple sclerosis (MS) can be a stressful experience that requires clinical attention. We investigated the impact of caregiver stress on the emotional well-being and physical health of the MS care partner using the North American Research Committee on Multiple Sclerosis (NARCOMS) Registry. Methods: Care partners of NARCOMS participants were invited to complete an online questionnaire that captured demographic characteristics, health status, caregiver burden as measured by the Zarit Caregiver Burden Interview, and impact of caregiving on employment. Results: Of 1446 care partners who agreed to participate, 1333 had complete data. Most were men (n = 825, 61.9%), with a mean (SD) age of 51.1 (11.2) years. The mean (SD) Zarit total score was 24.6 (15.1), placing the overall group in the mild caregiver burden range. Compared with male care partners, female care partners reported higher levels of burden and stress and more medication use for stress/anxiety and mood disorders. Male care partners were more likely to report physical concerns. Care partners of people with primary progressive MS reported greater perceived burden than did partners of people with secondary progressive MS and relapsing-remitting MS. More than 40% of care partners (559 of 1288) had missed work during the past year owing to caregiving responsibilities. Conclusions: Care partners of people with MS have substantial physical and psychological health concerns and experience an adverse impact on employment. Future research should evaluate how to mitigate the adverse effects of caregiving and evaluate positive aspects of the role. PMID:26664330

  6. Heavy Coffee Drinkers Show Lower Risk of Multiple Sclerosis

    MedlinePlus

    ... html Heavy Coffee Drinkers Show Lower Risk of Multiple Sclerosis But the finding isn't reason enough to ... coffee may have a lower risk of developing multiple sclerosis (MS), a new large study suggests. Researchers found ...

  7. Episodic Mood Changes Preceding an Exacerbation of Multiple Sclerosis

    PubMed Central

    Sharma, Priya; Morrow, Sarah A.; Owen, Richard J.

    2015-01-01

    Multiple sclerosis is a neurologic inflammatory disease that can manifest with psychiatric symptoms. Although depression is the most common psychiatric diagnosis in patients with multiple sclerosis, how depression develops is not fully understood. We present the case of an individual who displayed episodic mood changes preceding an exacerbation of multiple sclerosis symptoms. The clinical and research implications of this association are discussed. PMID:26835163

  8. Adie's Tonic Pupil in Systemic Sclerosis: A Rare Association

    PubMed Central

    Venkataraman, Anusha; Panda, Bijnya Birajita; Sirka, Chandrasekhar

    2015-01-01

    We report a rare association of Adie's tonic pupil in a patient with systemic sclerosis who was otherwise systemically stable. This paper is an effort to unravel whether the tonic pupil and systemic sclerosis are an association by chance (which may be the case) or systemic sclerosis is the source of the tonic pupil. PMID:26421204

  9. Coexistent arteriovenous malformation and hippocampal sclerosis.

    PubMed

    Prayson, Richard A; O'Toole, Elizabeth E

    2016-06-01

    Cavernous angiomas or cavernomas have been occasionally described in patients presenting with medically intractable epilepsy. Reports of cavernomas associated with a second pathology potentially causative of seizures have rarely been documented; most commonly, the second pathology is focal cortical dysplasia or less frequently, hippocampal sclerosis. To our knowledge, cases of arteriovenous malformation arising in this clinical setting and associated with hippocampal sclerosis have not been previously described. We report a 56-year-old woman who initially presented at age 24years with staring spells. Imaging studies revealed an arteriovenous malformation in the right parietal lobe. At age 51years, she represented with signs and symptoms related to a hemorrhage from the malformation. The patient underwent Gamma Knife radiosurgery (Elekta AB, Stockholm, Sweden) of the lesion. She subsequently developed seizures, refractory to medical management. MRI studies showed atrophy in the right hippocampus. She underwent resection of the right parietal lobe and hippocampus. Histopathologic examination of the right parietal lesion revealed an arteriovenous malformation marked by focally prominent vascular sclerosis, calcification and adjacent hemosiderin deposition. The hippocampus was marked by prominent neuronal loss and gliosis in the CA1 region, consistent with CA1 sclerosis or hippocampal sclerosis International League Against Epilepsy type 2. PMID:26899356

  10. The genetics of multiple sclerosis.

    PubMed

    Lin, Rui; Charlesworth, Jac; van der Mei, Ingrid; Taylor, Bruce V

    2012-10-01

    Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. Improved prevention and treatment will depend on a greater understanding of the causes and mechanisms involved in its onset and progression. MS is clearly driven by both environmental and genetic factors. Established contributory environmental factors include lower ultraviolet radiation exposure and lower vitamin D levels, Epstein-Barr virus and smoking. Our current understanding of MS genetics is undergoing a major upgrade as new genetic technologies are applied to large MS studies. In this article, we review the current literature describing a genetic contribution to MS susceptibility and review the methods to detect genetic variants that may underlie the genetic contribution to MS. We also consider how reporting of genetic discoveries in MS in the lay press has caused some confusion among patients and their families, who, not surprisingly, think that these discoveries can be translated into an available genetic test to diagnose MS or recognise family members at risk of developing MS. We review the current limited clinical use of genetics in the diagnosis and management of MS. PMID:22976058

  11. Endothelin-1 in systemic sclerosis

    PubMed Central

    Aghaei, Mehrdad; Gharibdost, Farhad; Zayeni, Habib; Akhlaghi, Maryam; Sedighi, Sima; Rostamian, Abduo Rahman; Aghdami, Naser; Shojaa, Mahdieh

    2012-01-01

    Introduction: Scleroderma is a systemic disorder with unknown etiology most notably characterized by skin thickening and organ damage. Endothelin-1 (ET-1) plays a role in skin fibrosis. The aim of this study was survey and comparison of ET-1 level in Systemic Sclerosis (SSc) patients with and without digital ulcer. Material and Methods: A cross-sectional analytical study conducted among the 95 patients with scleroderma in 2006 who were referred to the Rheumatology clinic in Shariati hospital of Tehran. The questionnaire was completed for every patient. Plasma level of endothelin-1 was also measured in all of them. The data was analyzed using SPSS software and statistical tests. Results: The result indicated, relationship among digital ulcers and digital pitting scars with plasma level of ET-1 were significant (P value < 0.05). We could not find any significant relationship between age and plasma level of ET-1. Conclusion: These data indicate plasma level of ET-1 in scleroderma patients with digital ulcer was higher than patients without digital ulcer. Thus, increase in plasma level of ET-1 could be effective in vascular damage, fibrosis, and skin thickness. PMID:23130253

  12. Natalizumab therapy of multiple sclerosis.

    PubMed

    Hutchinson, Michael

    2010-10-01

    Multiple sclerosis (MS) is the commonest disabling neurological disease of young and middle-aged adults affecting 1 million persons world wide. The illness begins with a relapsing-remitting MS course in 85%–90% of patients; the other 10%–15% have a primary progressive onset MS. Our current understanding is that MS is an autoimmune disorder with an inflammatory T-cell attack on myelin or some component of the oligodendrocyte--myelin structure. Relapses of disease activity result in plaques of demyelination with destruction of myelin and, to a lesser, extent axons. Lymphocytes within the central nervous system tissue recruit more cells leading to an inflammatory cascade that causes myelin damage, axonal disruption, and neuronal death. If the plaque occurs in a vocal area of the central nervous system then symptoms relating to that area result. However, magnetic resonance imaging shows that approximately 10 times more lesions occur in asymptomatic areas of the brain. Recovery from an initial relapse may appear relatively complete but persistent inflammation results in axonal injury and residual disability results. With time and accumulated lesion load, secondary degeneration of denuded axons results in the phase of secondary progressive MS usually 15-20 years after onset. PMID:20874255

  13. Cardiovascular disease in systemic sclerosis

    PubMed Central

    Cannarile, Francesca; Valentini, Valentina; Mirabelli, Giulia; Alunno, Alessia; Terenzi, Riccardo; Luccioli, Filippo; Bartoloni, Elena

    2015-01-01

    Cardiovascular (CV) system involvement is a frequent complication of autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). It still remains unclear if a premature atherosclerosis (ATS) occurs even in systemic sclerosis (SSc). Although microvascular disease is a hallmark of SSc, in the last few years a number of studies highlighted a higher prevalence of macrovascular disease in SSc patients in comparison to healthy individuals and these data have been correlated with a poorer prognosis. The mechanisms promoting ATS in SSc are not fully understood, but it is believed to be secondary to multi-system organ inflammation, endothelial wall damage and vasculopathy. Both traditional risk factors and endothelial dysfunction have been proposed to participate to the onset and progression of ATS in such patients. In particular, endothelial cell injury induced by anti-endothelial antibodies, ischemia/reperfusion damage, immune-mediated cytotoxicity represent the main causes of vascular injury together with an impaired vascular repair mechanism that determine a defective vasculogenesis. Aim of this review is to analyse both causes and clinical manifestations of macrovascular involvement and ATS in SSc. PMID:25705640

  14. [Oral treatments in multiple sclerosis].

    PubMed

    Meca-Lallana, José Eustasio; Hernández-Clares, Rocío; Carreón-Guarnizo, Ester

    2014-12-01

    The development of new disease-modifying drugs (DMD) in relapsing-remitting multiple sclerosis (RRMS), which share the common denominator of oral administration, considerably improves patient expectations in terms of effectiveness, tolerability and treatment adherence compared with currently available drugs. However, the common route of administration of these drugs does not mean that they are equivalent, since the heading of "oral route" encompasses drugs with distinct indications and mechanisms of action, as well as heterogeneous results in terms of efficacy and safety, allowing treatment to be personalized according to the each patient' s characteristics. Currently, four oral DMD are available or in an advanced stage of clinical development: fingolimod, teriflunomide, dimethyl fumarate and laquinimod. In pivotal trials versus placebo, these molecules reduced the annualized rate of exacerbations versus placebo by 54%, 31%, 53% and 23%, respectively, the risk of progression of disability by 31%, 30%, 38% and 36%, and the number of active lesions showing contrast uptake on magnetic resonance imaging by 82%, 80%, 90% and 37%, respectively. Based on the risk/benefit ratio, fingolimod is indicated in patients with suboptimal response to initial DMD or in severe rapidly progressing RRMS, while the remaining drugs can be used as first-line options. Clinical experience with these treatments will provide new data on safety and effectiveness, which will be determinant when establishing therapeutic algorithms. PMID:25732946

  15. [Therapeutic strategy against multiple sclerosis].

    PubMed

    Suzumura, Akio

    2008-11-01

    The pathogenesis of multiple sclerosis (MS) remains to be elucidated and there is no curative therapy against MS, though we have several disease modifying drugs. In this symposium. I introduce several new strategies against development of autoimmune processes and axonal degeneration in MS. Several mechanisms regulate immune system not to attack self components. One of the most potent regulatory cells is CD4 + CD25 + FoxP + regulatory T cells (Treg), which suppress development of both T helper 1 and 2. Thus, to increase the number and function of Treg is an approach to suppress autoimmune diseases. We have found recently that midkine suppresses the development of Treg. and that suppression of midkine by RNA aptamer alleviates symptoms of experimental autoimmune encephalomyetitis, an animal model of MS. by expanding Treg. Another important strategy against MS is to suppress axonal degeneration which reportedly occurs from an early stage of MS. We have found that the most toxic agent from activated macrophages and microglia is glutamate that was produced by glutaminase and released through gap-junction. Thus, inhibitor for glutaminase and gap-junction may be other candidates to treat MS. Interferon-beta also effectively suppress glutamate production by these cells and subsequently suppress development of axonal degeneration. PMID:19198124

  16. Multiple sclerosis and breast cancer.

    PubMed

    O'Malley, P W; Mulla, Z D; Nesic, O

    2015-09-15

    Multiple sclerosis (MS) and breast cancer (BC) share common features; most notably, both are more frequent in women than in men. In addition to the involvement of sex hormones, a number of genetic and pharmacological studies support a possible relationship between these two diseases. However, there are no conclusive epidemiological findings related to MS and BC worldwide, and there are no recent data for the US population. We conducted a case-control study using a hospital inpatient discharge dataset (21,536 cases and two control series totaling 59,581 controls) from the Texas Health Care Information Collection. We assessed occurrence of MS in BC cases and in two control series: diabetes mellitus type II, and open wounds. After controlling for age, race-ethnicity, and health insurance status, a statistically-significant protective association was detected: BC cases were 45% less likely than diabetic controls to have MS (OR=0.55, 95% CI=0.37-0.81), and 63% less likely than open wound controls to have MS (OR=0.37, 95% CI=0.21-0.66). Our study presented here is the only current assessment of the association between MS and BC in the USA and suggests a protective effect of MS on BC in the hospitalized population. PMID:26130448

  17. [Respiratory failure in disseminated sclerosis].

    PubMed

    Popova, L M; Avdiunina, I A; Alferova, V P

    2000-01-01

    The development and patterns of respiratory failure (RF) are analyzed in 9 patients with disseminated sclerosis (DS). Forced ventilation of the lungs was carried out with consideration for main location of the process. Relationship between patterns of respiratory disorders and neuroanatomy of respiratory regulation is discussed. Involvement of the corticospinal routes is paralleled by dissociation during functional pulmonary tests: spontaneous volumes are less than controlled inspirations. The most severe symptom complexes were observed in RF of predominantly bulbar localization: respiratory anarchy, blocking of airways caused by impaired swallowing, impaired mechanism of coughing reflex, loss of spontaneous respiration, sometimes apnea during sleeping. Involvement of the respiratory nuclei of medullary respiratory center and airways and of the corticonuclear routes of caudal cranial nerves causes the development of a triad of symptoms: glossopharyngolaryngeal paralysis, dysfunction of respiratory nuclei of medulla oblongata, and decreased sensitivity of respiratory center to CO2. Aspiration complications caused by dysphagia are characteristic of bulbar DS. Respiratory function in 5 patients without clinical picture of RF are specially discussed. The authors emphasize unfavorable prognostic significance of signs of extracorporeal obstruction indicating the probability of RF long before its manifestation. Special attention is paid to early diagnosis of symptoms of coming RF when evaluating the status of patients with DS during treatment. Timely use of respiratory resuscitation methods reduces the mortality and ensures a good chance for remissions with recovery of respiratory function, which are characteristic of RF. PMID:11014001

  18. Tuberous Sclerosis Complex: Perioperative Considerations

    PubMed Central

    Rabito, Matthew J.; Kaye, Alan David

    2014-01-01

    Background Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an inherited, progressive neurocutaneous disorder characterized by the potential for hamartoma formation throughout the body. TSC is an autosomal dominant genetic disorder, but more than two-thirds of cases are sporadic. Methods Clinical manifestations and treatment options are discussed. Both surgical and anesthetic perioperative considerations are described in this review. Results Routine monitoring is appropriate for minor surgical procedures for patients with TSC who have mild disease manifestations. More extensive monitoring is indicated for major procedures that have the potential for significant blood loss and for patients with more severe pathology. Postoperatively, TSC patients should be admitted for monitoring and treatment after more extensive procedures or if significant organ dysfunction occurs. Postoperative complications, which may be related to either the surgery or the TSC pathology itself, may have origins in many different organs and may include seizures, severe hypertension, and bradyarrhythmias. Conclusion TSC is a rare disease with a highly variable clinical presentation and provides a multitude of challenges for the patient, the family, and the healthcare team. PMID:24940133

  19. Multiple sclerosis: Prospects and promise.

    PubMed

    Hauser, Stephen L; Chan, Jonah R; Oksenberg, Jorge R

    2013-09-01

    We have entered a golden era in multiple sclerosis (MS) research. Two decades ago, our understanding of the disease was largely descriptive and there were no approved therapies to modify the natural history of MS. Today, delineation of immune pathways relevant to MS have been clarified; a comprehensive map of genes that influence risk compiled; clues to environmental triggers identified; noninvasive in vivo monitoring of the MS disease process has been revolutionized by high-field MRI; and many effective therapies for the early, relapsing, component of MS now exist. However, major challenges remain. We still have no useful treatment for progressive MS (the holy grail of MS research), no means to repair injured axons or protect neurons, and extremely limited evidence to guide treatment decisions. Recent advances have set in place a foundation for development of increasingly selective immunotherapy for patients; application of genetic and genomic discoveries to improve therapeutic options; development of remyelination or neuroprotection therapies for progressive MS; and integrating clinical, imaging and genomic data for personalized medicine. MS has now advanced from the backwaters of autoimmune disease research to the front-line, and definitive answers, including cures, are now realistic goals for the next decade. Many of the breakthrough discoveries in MS have also resulted from meaningful interactions across disciplines, and especially from translational and basic scientists working closely with clinicians, highlighting that the clinical value of discoveries are most often revealed when ideas developed in the laboratory are tested at the bedside. PMID:23955638

  20. [Cognitive impairment in multiple sclerosis].

    PubMed

    Ochi, Hirofumi

    2014-10-01

    Cognitive impairment may occur in up to 70% of all patients with multiple sclerosis (MS). Although MS can affect various sites within the central nervous system, a specific pattern of cognitive deficits tends to be seen, especially in the early stages of the disease. These deficits include problems with attention, information processing speed, and working memory. This constellation of deficits can occur with any disease course, and a minimal correlation has been found between physical disability assessed by EDSS and cognitive impairment. Many studies have shown that cognitive impairment is correlated with brain lesion volume, as well as brain atrophy. There are promising neuroimaging indicators that may be useful for identifying patients at risk for cognitive impairment, such as diffusion tensor imaging, the magnetization transfer ratio, and N-acetyl aspartate levels. Cognitive dysfunction is associated with adverse effects on quality of life, employment status, and social activities. Today, there are three avenues for treatment: disease modifying therapies, symptomatic treatments, and cognitive rehabilitation. Unfortunately, data linking therapeutic interventions are limited. A better understanding of cognitive function and its correlation with disease mechanisms will assist in providing a new comprehensive treatment strategy that begins immediately with the diagnosis of MS. PMID:25296874

  1. Rehabilitation challenges in multiple sclerosis.

    PubMed

    Burks, Jack S; Bigley, George Kim; Hill, Harry Haydon

    2009-10-01

    While current immunomodulating drugs aim to reduce multiple sclerosis (MS) exacerbations and slow disease progression, rehabilitation aims to improve and maintain the functional abilities of patients in the face of disease progression. An increasing number of journal articles are describing the value of the many rehabilitation interventions that can be used throughout the course of the disease, from the initial symptoms to the advanced stages. An integrated team of healthcare professionals is necessary to address a myriad of problems to reduce impairments, disabilities, and handicaps. The problems may be related to fatigue, weakness, spasticity, mobility, balance, pain, cognition, mood, relationships, bowel, bladder, sexual function, swallowing, speech, transportation, employment, recreation, and activities of daily living (ADL) such as dressing, eating, bathing, and household chores. The team can help prevent complications and secondary disabilities, while increasing patient safety. Improving neurologically related function, maintaining good relationships, and feeling productive and creative adds enormously to the quality of life of people with MS and their families. Rehabilitation is more than an 'extra' service that is given after medical therapies; it is an integral part of the management of the diverse set of problems encountered throughout the course of the disease. An interdisciplinary team may have many members, including physicians, nurses, physical therapists, occupational therapists, speech and language pathologists, psychotherapists, social workers, recreational therapists, vocational rehabilitation therapists, patients, families, and other caregivers. PMID:20182578

  2. Remyelination Therapy in Multiple Sclerosis

    PubMed Central

    Harlow, Danielle E.; Honce, Justin M.; Miravalle, Augusto A.

    2015-01-01

    Multiple sclerosis (MS) is an immune-mediated disorder of the central nervous system that results in destruction of the myelin sheath that surrounds axons and eventual neurodegeneration. Current treatments approved for the treatment of relapsing forms of MS target the aberrant immune response and successfully reduce the severity of attacks and frequency of relapses. Therapies are still needed that can repair damage particularly for the treatment of progressive forms of MS for which current therapies are relatively ineffective. Remyelination can restore neuronal function and prevent further neuronal loss and clinical disability. Recent advancements in our understanding of the molecular and cellular mechanisms regulating myelination, as well as the development of high-throughput screens to identify agents that enhance myelination, have lead to the identification of many potential remyelination therapies currently in preclinical and early clinical development. One problem that has plagued the development of treatments to promote remyelination is the difficulty in assessing remyelination in patients with current imaging techniques. Powerful new imaging technologies are making it easier to discern remyelination in patients, which is critical for the assessment of these new therapeutic strategies during clinical trials. This review will summarize what is currently known about remyelination failure in MS, strategies to overcome this failure, new therapeutic treatments in the pipeline for promoting remyelination in MS patients, and new imaging technologies for measuring remyelination in patients. PMID:26696956

  3. Parental Understanding of Tuberous Sclerosis Complex.

    PubMed

    Samia, Pauline; Donald, Kirsten A; Schlegel, Birgit; Wilmshurst, Jo M

    2015-09-01

    Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of the parents of 21 children with tuberous sclerosis complex was undertaken. Median parental age was 38 (interquartile range 34.5-45) years. Parents were randomly allocated to receive written information about the condition, or to receive verbal counseling already established in clinic. A significant difference (P = .001) was observed in the change in the mean knowledge scores for the parent group that received written information (34.2 at baseline, 51.7 at the second visit. This impact was higher in parents with an education level of at least grade 8 (P = .003). Parental understanding of tuberous sclerosis complex can be improved by provision of written information and should be routinely available in a readily understandable format. PMID:25414235

  4. Electroconvulsive therapy in patients with multiple sclerosis.

    PubMed

    Rasmussen, Keith G; Keegan, B Mark

    2007-09-01

    There are relatively few case reports of electroconvulsive therapy (ECT) in patients with multiple sclerosis. We present 3 such patients, all of whom received safe, effective ECT without evidence of acute neurological deterioration. We conclude that patients with multiple sclerosis being considered for ECT should have a thorough neurological evaluation, and the informed consent process should include discussion of the possibility of neurological deterioration. However, review of the literature and of our 3 cases does reveal that ECT can be used safely, at least in the short term. Long-term outcomes in such patients remain uncertain. PMID:17804994

  5. [Large vessels vasculopathy in systemic sclerosis].

    PubMed

    Tejera Segura, Beatriz; Ferraz-Amaro, Iván

    2015-12-01

    Vasculopathy in systemic sclerosis is a severe, in many cases irreversible, manifestation that can lead to amputation. While the classical clinical manifestations of the disease have to do with the involvement of microcirculation, proximal vessels of upper and lower limbs can also be affected. This involvement of large vessels may be related to systemic sclerosis, vasculitis or atherosclerotic, and the differential diagnosis is not easy. To conduct a proper and early diagnosis, it is essential to start prompt appropriate treatment. In this review, we examine the involvement of large vessels in scleroderma, an understudied manifestation with important prognostic and therapeutic implications. PMID:25726305

  6. Emerging therapies for treatment of multiple sclerosis

    PubMed Central

    Corboy, John R; Miravalle, Augusto A

    2010-01-01

    In the last decade, a new armamentarium of immune-based therapies have been developed and tested in patients with multiple sclerosis. Some of these therapies are showing a high level of efficacy, with an acceptable adverse effect profile. Because present therapies have significant limitations in slowing disease progression, require injections, are sometimes associated with significant side effects of immunosuppression, and do little to reverse disability, identifying more effective treatments is an important goal for clinical research in multiple sclerosis. However, in order to improve our current approach to disease-modifying therapies, it is imperative to promote the development of individualized therapy strategies. PMID:22096357

  7. Tuberous sclerosis complex: A case report

    PubMed Central

    Sarkar, Soumyabrata; Khaitan, Tanya; Sinha, Rupam; Kabiraj, Arpita

    2016-01-01

    Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex. PMID:27307675

  8. Amyotrophic Lateral Sclerosis: A Historical Perspective.

    PubMed

    Katz, Jonathan S; Dimachkie, Mazen M; Barohn, Richard J

    2015-11-01

    This article looks back in time to see where the foundational basis for the understanding of amyotrophic lateral sclerosis originated. This foundation was created primarily in France by Jean-Martin Charcot and his fellow countrymen and disciples, along with key contributions from early clinicians in England and Germany. The early work on amyotrophic lateral sclerosis provides a useful foundation for today's clinicians with respect to tying together genetic and biologic aspects of the disorder that have been discovered over the past few decades. PMID:26515617

  9. Defective immunoregulation in multiple sclerosis.

    PubMed

    Goust, J M; Hoffman, P M; Pryjma, J; Hogan, E L; Fudenberg, H H

    1980-11-01

    Imbalances in T cell subpopulations have been reported in multiple sclerosis (MS). In the present study of 31 MS patients, the percentage of T cells with Fc receptors for IgG (Tg) was found to be increased in patients with chronic progressive disease, and another T cell subset binding to the Raji B lymphoid cell line was decreased. An inverse correlation (r = -0.675; < 95% confidence limit) was found between these two subsets, suggesting that they vary inversely in MS. The mitogenic responses of MS mononuclear cells, isolated T cells, and recombinet T and non-T cells to the lectins phytohemagglutinin and pokeweek mitogen (PWM) did not differ from those of normal cells. However, more immunoglobulin (Ig)-producing cells were generated in a PWM-driven system with cells from MS patients than with cells from age-matched controls (p < 0.05). Autologous recombination of separated T and non-T cells did not significantly modify these results. T cells from MS patients added to B cells from normal controls exerted an effect that was related to their percentage of Tg cells; that is, values above 15% were associated with a suppression of Ig production, whereas for Tg values below 12%, a helper effect or no modification was observed. These results suggest that changes in T cell subsets in MS are related to changes in functional ability to modulate Ig production by normal B cells. However, MS B cells partly escape regulation by their own T cells, suggesting an associated B cell hyperactivity. PMID:7436394

  10. Nutrition facts in multiple sclerosis.

    PubMed

    Riccio, Paolo; Rossano, Rocco

    2015-01-01

    The question whether dietary habits and lifestyle have influence on the course of multiple sclerosis (MS) is still a matter of debate, and at present, MS therapy is not associated with any information on diet and lifestyle. Here we show that dietary factors and lifestyle may exacerbate or ameliorate MS symptoms by modulating the inflammatory status of the disease both in relapsing-remitting MS and in primary-progressive MS. This is achieved by controlling both the metabolic and inflammatory pathways in the human cell and the composition of commensal gut microbiota. What increases inflammation are hypercaloric Western-style diets, characterized by high salt, animal fat, red meat, sugar-sweetened drinks, fried food, low fiber, and lack of physical exercise. The persistence of this type of diet upregulates the metabolism of human cells toward biosynthetic pathways including those of proinflammatory molecules and also leads to a dysbiotic gut microbiota, alteration of intestinal immunity, and low-grade systemic inflammation. Conversely, exercise and low-calorie diets based on the assumption of vegetables, fruit, legumes, fish, prebiotics, and probiotics act on nuclear receptors and enzymes that upregulate oxidative metabolism, downregulate the synthesis of proinflammatory molecules, and restore or maintain a healthy symbiotic gut microbiota. Now that we know the molecular mechanisms by which dietary factors and exercise affect the inflammatory status in MS, we can expect that a nutritional intervention with anti-inflammatory food and dietary supplements can alleviate possible side effects of immune-modulatory drugs and the symptoms of chronic fatigue syndrome and thus favor patient wellness. PMID:25694551

  11. Taste dysfunction in multiple sclerosis.

    PubMed

    Doty, Richard L; Tourbier, Isabelle A; Pham, Dzung L; Cuzzocreo, Jennifer L; Udupa, Jayaram K; Karacali, Bilge; Beals, Evan; Fabius, Laura; Leon-Sarmiento, Fidias E; Moonis, Gul; Kim, Taehoon; Mihama, Toru; Geckle, Rena J; Yousem, David M

    2016-04-01

    Empirical studies of taste function in multiple sclerosis (MS) are rare. Moreover, a detailed assessment of whether quantitative measures of taste function correlate with the punctate and patchy myelin-related lesions found throughout the CNS of MS patients has not been made. We administered a 96-trial test of sweet (sucrose), sour (citric acid), bitter (caffeine) and salty (NaCl) taste perception to the left and right anterior (CN VII) and posterior (CN IX) tongue regions of 73 MS patients and 73 matched controls. The number and volume of lesions were assessed using quantitative MRI in 52 brain regions of 63 of the MS patients. Taste identification scores were significantly lower in the MS patients for sucrose (p = 0.0002), citric acid (p = 0.0001), caffeine (p = 0.0372) and NaCl (p = 0.0004) and were present in both anterior and posterior tongue regions. The percent of MS patients with identification scores falling below the 5th percentile of controls was 15.07 % for caffeine, 21.9 % for citric acid, 24.66 % for sucrose, and 31.50 % for NaCl. Such scores were inversely correlated with lesion volumes in the temporal, medial frontal, and superior frontal lobes, and with the number of lesions in the left and right superior frontal lobes, right anterior cingulate gyrus, and left parietal operculum. Regardless of the subject group, women outperformed men on the taste measures. These findings indicate that a sizable number of MS patients exhibit taste deficits that are associated with MS-related lesions throughout the brain. PMID:26810729

  12. Hearing disorders in multiple sclerosis.

    PubMed

    Furst, Miriam; Levine, Robert A

    2015-01-01

    Multiple sclerosis (MS) is a disease that is both a focal inflammatory and a chronic neurodegenerative disease. The focal inflammatory component is characterized by destruction of central nervous system myelin, including the spinal cord; as such it can impair any central neural system, including the auditory system. While on the one hand auditory complaints in MS patients are rare compared to other senses, such as vision and proprioception, on the other hand auditory tests of precise neural timing are never "silent." Whenever focal MS lesions are detected involving the pontine auditory pathway, auditory tests requiring precise neural timing are always abnormal, while auditory functions not requiring such precise timing are often normal. Azimuth sound localization is accomplished by comparing the timing and loudness of the sound at the two ears. Hence tests of azimuth sound localization must obligatorily involve the central nervous system and particularly the brainstem. Whenever a focal lesion was localized to the pontine auditory pathway, timing tests were always abnormal, but loudness tests were not. Moreover, a timing test that included only high-frequency sounds was very often abnormal, even when there was no detectable focal MS lesion involving the pontine auditory pathway. This test may be a marker for the chronic neurodegenerative aspect of MS, and, as such could be used to complement the magnetic resonance imaging scan in monitoring the neurodegenerative aspect of MS. Studies of MS brainstem lesion location and auditory function have led to advances in understanding how the human brain processes sound. The brain processes binaural sounds independently for time and level in a two-stage process. The first stage is at the level of the superior olivary complex (SOC) and the second at a level rostral to the SOC. PMID:25726295

  13. [Treatments of progressive systemic sclerosis].

    PubMed

    Vayssairat, M; Abdoucheli-Baudot, N; Gaitz, J P

    2001-10-01

    Progressive Systemic Sclerosis (PSS) is still an incurable disease but there are treatments for it, and the list of proposed treatments is long. The methodology of trials concerning PSS is complex, due to the low prevalence of the disease and therefore its financial interest for pharmaceutical companies, the lack of simple end points for efficacy, and the large number of clinical expressions with various prognoses. These causes explain why most open studies are fiercely positive, and why controlled studies are so rare. The progress made during the last 10 years concern 1) the diagnosis, which is now made earlier due to capillaroscopy and antibody assays, especially of anticentromere antibodies, 2) better knowledge of the prognosis, due to the classification of PSS into limited and the diffuse forms which have different prognoses, and 3) the recognition of a serious complication of the disease, ie. pulmonary hypertension, which can now be detected by non-invasive methods. All these improvements will also improve the methodology of future trials of drugs for treating PSS. In this ocean of uncertainties, some treatments have a valid background, and 3 visceral locations of PSS can be efficiently treated: renal involvement, with angiotensin-converting enzyme inhibitors, respiratory involvement, with D-penicillamine, and pulmonary hypertension, with prostacyclin derivatives. Corticosteroids are suspected to increase the risk of renal complications. Calcium blockers are considered a useful symptomatic treatment of the associated Raynaud's phenomenon and of the risk of digital necrosis, and may also constitute a treatment of PSS itself. A recent trial conducted by the French Microcirculation Society and its acrosyndrome Study Group considered the effects of an oral derivative of prostacyclin. Beneficial effects were: a reduction of the risk of digital necroses, improved overall wellbeing, less necessity for hospitalizations, fewer giant capillaries, and a dramatic fall in

  14. Retroviruses and amyotrophic lateral sclerosis

    PubMed Central

    Alfahad, Tariq; Nath, Avindra

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a progressive, invariably fatal neurologic disorder resulting from upper and lower motor neuron degeneration, which typically develops during the sixth or seventh decade of life, and is diagnosed based on standard clinical criteria. Its underlying cause remains undetermined. The disease may occur with increased frequency within certain families, often in association with specific genomic mutations, while some sporadic cases have been linked to environmental toxins or trauma. Another possibility, first proposed in the 1970s, is that retroviruses play a role in pathogenesis. In this paper, we review the published literature for evidence that ALS is associated either with infection by an exogenous retrovirus or with the expression of human endogenous retroviral (HERV) sequences in cells of the central nervous system. A small percentage of persons infected with the human immunodeficiency virus-1 (HIV-1) or human T cell leukemia virus-1 (HTLV-1) develop ALS-like syndromes. While HTLV-1 associated ALS-like syndrome has several features that may distinguish it from classical ALS, HIV-infected patients may develop neurological manifestations that resemble classical ALS although it occurs at a younger age and they may show a dramatic improvement following the initiation of antiretroviral therapy. However, most patients with probable or definite ALS show no evidence of HIV-1 or HTLV-1 infection. In contrast, recent reports have shown a stronger association with HERV, as analysis of serum samples, and postmortem brain tissue from a number of patients with a classical ALS has revealed significantly increased expression of HERV-K, compared to controls. These findings suggest that endogenous retroviral elements are involved in the pathophysiology of ALS, but there is no evidence that they are the primary cause of the syndrome. PMID:23707220

  15. Cardiac manifestations in systemic sclerosis

    PubMed Central

    Lambova, Sevdalina

    2014-01-01

    Primary cardiac involvement, which develops as a direct consequence of systemic sclerosis (SSc), may manifest as myocardial damage, fibrosis of the conduction system, pericardial and, less frequently, as valvular disease. In addition, cardiac complications in SSc may develop as a secondary phenomenon due to pulmonary arterial hypertension and kidney pathology. The prevalence of primary cardiac involvement in SSc is variable and difficult to determine because of the diversity of cardiac manifestations, the presence of subclinical periods, the type of diagnostic tools applied, and the diversity of patient populations. When clinically manifested, cardiac involvement is thought to be an important prognostic factor. Profound microvascular disease is a pathognomonic feature of SSc, as both vasospasm and structural alterations are present. Such alterations are thought to predict macrovascular atherosclerosis over time. There are contradictory reports regarding the prevalence of atherosclerosis in SSc. According to some authors, the prevalence of atherosclerosis of the large epicardial coronary arteries is similar to that of the general population, in contrast with other rheumatic diseases such as rheumatoid arthritis and systemic lupus erythematosus. However, the level of inflammation in SSc is inferior. Thus, the atherosclerotic process may not be as aggressive and not easily detectable in smaller studies. Echocardiography (especially tissue Doppler imaging), single-photon emission computed tomography, magnetic resonance imaging and cardiac computed tomography are sensitive techniques for earlier detection of both structural and functional scleroderma-related cardiac pathologies. Screening for subclinical cardiac involvement via modern, sensitive tools provides an opportunity for early diagnosis and treatment, which is of crucial importance for a positive outcome. PMID:25276300

  16. Nutrition Facts in Multiple Sclerosis

    PubMed Central

    Rossano, Rocco

    2015-01-01

    The question whether dietary habits and lifestyle have influence on the course of multiple sclerosis (MS) is still a matter of debate, and at present, MS therapy is not associated with any information on diet and lifestyle. Here we show that dietary factors and lifestyle may exacerbate or ameliorate MS symptoms by modulating the inflammatory status of the disease both in relapsing-remitting MS and in primary-progressive MS. This is achieved by controlling both the metabolic and inflammatory pathways in the human cell and the composition of commensal gut microbiota. What increases inflammation are hypercaloric Western-style diets, characterized by high salt, animal fat, red meat, sugar-sweetened drinks, fried food, low fiber, and lack of physical exercise. The persistence of this type of diet upregulates the metabolism of human cells toward biosynthetic pathways including those of proinflammatory molecules and also leads to a dysbiotic gut microbiota, alteration of intestinal immunity, and low-grade systemic inflammation. Conversely, exercise and low-calorie diets based on the assumption of vegetables, fruit, legumes, fish, prebiotics, and probiotics act on nuclear receptors and enzymes that upregulate oxidative metabolism, downregulate the synthesis of proinflammatory molecules, and restore or maintain a healthy symbiotic gut microbiota. Now that we know the molecular mechanisms by which dietary factors and exercise affect the inflammatory status in MS, we can expect that a nutritional intervention with anti-inflammatory food and dietary supplements can alleviate possible side effects of immune-modulatory drugs and the symptoms of chronic fatigue syndrome and thus favor patient wellness. PMID:25694551

  17. An Unusual Case of Perinatal Tuberous Sclerosis

    PubMed Central

    Hegde, Deeparaj Ganapati; Mondkar, Jayashree; Panchal, Harshad

    2014-01-01

    We report a case of a neonate who presented to us with multiple rhabdomyomas of heart, cortical tubers in the brain and skeletal anomalies such as Pierre Robin sequence, bilateral clubfoot and lower small bowel obstruction. Though a diagnosis of neonatal tuberous sclerosis was made, the association of skeletal anomalies and intestinal obstruction was a rare and unusual finding. PMID:25024981

  18. Group Work for Persons with Multiple Sclerosis.

    ERIC Educational Resources Information Center

    Gordon, Phyllis A.; And Others

    1996-01-01

    Discusses the use of group counseling strategies for people with Multiple Sclerosis (MS). Aims to provide counselors with information about pertinent factors related to MS that require careful consideration when employing general group techniques. Looks at group effectiveness, forming the group, and various types of groups, and offers a case…

  19. [Sporadic amyotrophic lateral sclerosis. Diagnostic criteria].

    PubMed

    Godoy, J M; de Oliveira, M A; de Moraes Neto, J B; Balassiano, S L; Montagna, N; Pinto, J R; Skacel, M

    1993-06-01

    The authors report two cases of amyotrophic lateral sclerosis (ALS) misdiagnosis (a craniocervical junction disorder, and a cervical spinal cord ependymoma). They review some causes of ALS-like syndrome and propose a protocol to be adopted for the study of all patients who present clinical abnormalities suggesting ALS. PMID:8274087

  20. Double cortical stimulation in amyotrophic lateral sclerosis.

    PubMed Central

    Yokota, T; Yoshino, A; Inaba, A; Saito, Y

    1996-01-01

    OBJECTIVE: Transcranial double magnetic stimulation on the motor cortex was used to investigate central motor tract function in 16 patients with amyotrophic lateral sclerosis, five with spinal muscular atrophy, and 16 age matched normal controls. METHODS: Surface EMG responses were recorded from the relaxed abductor pollicis brevis (APB) muscle. RESULTS: Responses to test stimuli were markedly attenuated by a subthreshold conditioning stimulus given at a condition-test (C-T) interval of 1-4 ms in normal controls and patients with spinal muscular atrophy, but attenuation was mild in patients with amyotrophic lateral sclerosis. In the normal controls this suppression was caused by activation of the intracortical inhibitory mechanism because responses to electrical test stimuli and the H wave were not suppressed by the same magnetic subthreshold conditioning stimulus. In amyotrophic lateral sclerosis the effect of the conditioning cortical stimulus on the H wave was also in the normal range. CONCLUSION: The intracortical inhibitory mechanism may be impaired in patients with amyotrophic lateral sclerosis. PMID:8971106

  1. Magnetic resonance sees lesions of multiple sclerosis

    SciTech Connect

    Ziporyn, T.

    1985-02-15

    The value of nuclear magnetic resonance imaging in the diagnosis and quantitation of the progression of multiple sclerosis is discussed. Magnetic resonance imaging generates images that reflect differential density and velocity of hydrogen nuclei between cerebral gray and white matter, as well as between white matter and pathological lesions of the disease.

  2. Psychiatric disorders in multiple sclerosis patients.

    PubMed

    Fazzito, Mirella Martins; Jordy, Sérgio Semeraro; Tilbery, Charles Peter

    2009-09-01

    Multiple sclerosis (MS) is a demyelinating disease showing variable clinical presentation. Optic neuritis is the most common symptom, followed by motor and sensitive manifestations. It is known that this disease may be related to several psychiatric disorders, especially depression. In this study we will discribe 5 cases of MS patients harboring psychiatric disorder related or unchained by the disease itself. PMID:19722046

  3. Fructose Malabsorption in Systemic Sclerosis.

    PubMed

    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Hervé; Ménard, Jean-François; Ducrotte, Philippe

    2015-09-01

    The deleterious effect of fructose, which is increasingly incorporated in many beverages, dairy products, and processed foods, has been described; fructose malabsorption has thus been reported in up to 2.4% of healthy subjects, leading to digestive clinical symptoms (eg, pain, distension, diarrhea). Because digestive involvement is frequent in patients with systemic sclerosis (SSc), we hypothesized that fructose malabsorption could be responsible for intestinal manifestations in these patients. The aims of this prospective study were to: determine the prevalence of fructose malabsorption, in SSc; predict which SSc patients are at risk of developing fructose malabsorption; and assess the outcome of digestive symptoms in SSc patients after initiation of standardized low-fructose diet. Eighty consecutive patients with SSc underwent fructose breath test. All SSc patients also completed a questionnaire on digestive symptoms, and a global symptom score (GSS) was calculated. The prevalence of fructose malabsorption was as high as 40% in SSc patients. We also observed a marked correlation between the presence of fructose malabsorption and: higher values of GSS score of digestive symptoms (P = 0.000004); and absence of delayed gastric emptying (P = 0.007). Furthermore, in SSc patients with fructose malabsorption, the median value of GSS score of digestive symptoms was lower after initiation of standardized low-fructose diet (4 before vs. 1 after; P = 0.0009). Our study underscores that fructose malabsorption often occurs in SSc patients. Our findings are thus relevant for clinical practice, highlighting that fructose breath test is a helpful, noninvasive method by: demonstrating fructose intolerance in patients with SSc; and identifying the group of SSc patients with fructose intolerance who may benefit from low-fructose diet. Interestingly, because the present series also shows that low-fructose diet resulted in a marked decrease of gastrointestinal clinical manifestations

  4. Environmental factors in multiple sclerosis.

    PubMed

    Pantazou, Vasiliki; Schluep, Myriam; Du Pasquier, Renaud

    2015-04-01

    Although multiple sclerosis (MS) is recognized as a disorder involving the immune system, the interplay of environmental factors and individual genetic susceptibility seems to influence MS onset and clinical expression, as well as therapeutic responsiveness. Multiple human epidemiological and animal model studies have evaluated the effect of different environmental factors, such as viral infections, vitamin intake, sun exposure, or still dietary and life habits on MS prevalence. Previous Epstein-Barr virus infection, especially if this infection occurs in late childhood, and lack of vitamin D (VitD) currently appear to be the most robust environmental factors for the risk of MS, at least from an epidemiological standpoint. Ultraviolet radiation (UVR) activates VitD production but there are also some elements supporting the fact that insufficient UVR exposure during childhood may represent a VitD-independent risk factor of MS development, as well as negative effect on the clinical and radiological course of MS. Recently, there has been a growing interest in the gut-brain axis, a bidirectional neuro-hormonal communication system between the intestinal microbiota and the central nervous system (CNS). Indeed, components of the intestinal microbiota may be pro-inflammatory, promote the migration of immune cells into the CNS, and thus be a key parameter for the development of autoimmune disorders such as MS. Interestingly most environmental factors seem to play a role during childhood. Thus, if childhood is the most fragile period to develop MS later in life, preventive measures should be applied early in life. For example, adopting a diet enriched in VitD, playing outdoor and avoiding passive smoking would be extremely simple measures of primary prevention for public health strategies. However, these hypotheses need to be confirmed by prospective evaluations, which are obviously difficult to conduct. In addition, it remains to be determined whether and how Vit

  5. Fructose Malabsorption in Systemic Sclerosis

    PubMed Central

    Marie, Isabelle; Leroi, Anne-Marie; Gourcerol, Guillaume; Levesque, Hervé; Ménard, Jean-François; Ducrotte, Philippe

    2015-01-01

    Abstract The deleterious effect of fructose, which is increasingly incorporated in many beverages, dairy products, and processed foods, has been described; fructose malabsorption has thus been reported in up to 2.4% of healthy subjects, leading to digestive clinical symptoms (eg, pain, distension, diarrhea). Because digestive involvement is frequent in patients with systemic sclerosis (SSc), we hypothesized that fructose malabsorption could be responsible for intestinal manifestations in these patients. The aims of this prospective study were to: determine the prevalence of fructose malabsorption, in SSc; predict which SSc patients are at risk of developing fructose malabsorption; and assess the outcome of digestive symptoms in SSc patients after initiation of standardized low-fructose diet. Eighty consecutive patients with SSc underwent fructose breath test. All SSc patients also completed a questionnaire on digestive symptoms, and a global symptom score (GSS) was calculated. The prevalence of fructose malabsorption was as high as 40% in SSc patients. We also observed a marked correlation between the presence of fructose malabsorption and: higher values of GSS score of digestive symptoms (P = 0.000004); and absence of delayed gastric emptying (P = 0.007). Furthermore, in SSc patients with fructose malabsorption, the median value of GSS score of digestive symptoms was lower after initiation of standardized low-fructose diet (4 before vs. 1 after; P = 0.0009). Our study underscores that fructose malabsorption often occurs in SSc patients. Our findings are thus relevant for clinical practice, highlighting that fructose breath test is a helpful, noninvasive method by: demonstrating fructose intolerance in patients with SSc; and identifying the group of SSc patients with fructose intolerance who may benefit from low-fructose diet. Interestingly, because the present series also shows that low-fructose diet resulted in a marked decrease of gastrointestinal

  6. Lung Volume Recruitment in Multiple Sclerosis

    PubMed Central

    Srour, Nadim; LeBlanc, Carole; King, Judy; McKim, Douglas A.

    2013-01-01

    Introduction Pulmonary function abnormalities have been described in multiple sclerosis including reductions in forced vital capacity (FVC) and cough but the time course of this impairment is unknown. Peak cough flow (PCF) is an important parameter for patients with respiratory muscle weakness and a reduced PCF has a direct impact on airway clearance and may therefore increase the risk of respiratory tract infections. Lung volume recruitment is a technique that improves PCF by inflating the lungs to their maximal insufflation capacity. Objectives Our goals were to describe the rate of decline of pulmonary function and PCF in patients with multiple sclerosis and describe the use of lung volume recruitment in this population. Methods We reviewed all patients with multiple sclerosis referred to a respiratory neuromuscular rehabilitation clinic from February 1999 until December 2010. Lung volume recruitment was attempted in patients with FVC <80% predicted. Regular twice daily lung volume recruitment was prescribed if it resulted in a significant improvement in the laboratory. Results There were 79 patients included, 35 of whom were seen more than once. A baseline FVC <80% predicted was present in 82% of patients and 80% of patients had a PCF insufficient for airway clearance. There was a significant decline in FVC (122.6 mL/y, 95% CI 54.9–190.3) and PCF (192 mL/s/y, 95% 72–311) over a median follow-up time of 13.4 months. Lung volume recruitment was associated with a slower decline in FVC (p<0.0001) and PCF (p = 0.042). Conclusion Pulmonary function and cough decline significantly over time in selected patients with multiple sclerosis and lung volume recruitment is associated with a slower rate of decline in lung function and peak cough flow. Given design limitations, additional studies are needed to assess the role of lung volume recruitment in patients with multiple sclerosis. PMID:23383293

  7. Variables associated with patient activation in persons with multiple sclerosis.

    PubMed

    Goodworth, Marie-Christine R; Stepleman, Lara; Hibbard, Judith; Johns, Lisa; Wright, Dustin; Hughes, Mary D; Williams, Mitzi J

    2016-01-01

    Identifying variables associated with patient activation in the multiple sclerosis population could serve to facilitate better multiple sclerosis self-management behaviors. Using a cross-sectional survey design, 199 participants were recruited from a multiple sclerosis center in the Southeastern United States. Depression, multiple sclerosis quality of life, and multiple Sclerosis self-efficacy were all significantly correlated with patient activation. Results of a hierarchical regression indicated that patient activation was significantly related to educational attainment, depression, and self-efficacy but not to quality of life. The results suggest several possible targets for intervention to increase patient activation, including health literacy, depression symptoms, and self-efficacy for multiple sclerosis disease management. PMID:24591120

  8. Peripheral blood lymphocyte phenotype and function in multiple sclerosis.

    PubMed Central

    Hughes, P J; Compston, D A

    1988-01-01

    T suppressor cell function and phenotype are abnormal in patients with multiple sclerosis, especially during the chronic progressive phase but the sub-populations defined by mitogen stimulation and serological methods may not be identical. In this study, involving 45 patients with multiple sclerosis and 33 controls, there was no correlation between T suppressor function and CD8 cell phenotype in patients with multiple sclerosis or in controls. These phenotypic and functional studies cannot therefore be used interchangeably in the assessment of patients with multiple sclerosis since they provide different information about lymphocyte subpopulations. PMID:2976082

  9. Tumefactive Demyelinating Lesions in Multiple Sclerosis and Associated Disorders.

    PubMed

    Frederick, Meredith C; Cameron, Michelle H

    2016-03-01

    Tumefactive demyelinating lesions are rare consequences of central nervous system (CNS) idiopathic inflammatory demyelinating diseases. Tumefactive demyelinating lesions pose a diagnostic challenge because they can mimic tumors and abscesses and because they can be caused by a heterogeneous range of disorders. This article reviews the recent literature on the clinical presentation; radiographic features; prognosis; and management of tumefactive demyelinating lesions in multiple sclerosis, acute demyelinating encephalomyelitis, neuromyelitis optica, and the rare variants of multiple sclerosis including Schilder's disease, Marburg acute multiple sclerosis, and Balo's concentric sclerosis. PMID:26847090

  10. Current frontiers in systemic sclerosis pathogenesis.

    PubMed

    Ciechomska, Marzena; van Laar, Jacob; O'Reilly, Steven

    2015-06-01

    Systemic sclerosis is an autoimmune disease characterised by vascular dysfunction, impaired angiogenesis, inflammation and fibrosis. There is no currently accepted disease-modifying treatment with only autologous stem cell transplant showing clinically meaningful benefit. The lack of treatment options reflects our lack of understanding of the precise molecular mechanisms occurring in the disease. Recent investigations have begun to decipher the molecular pathways underpinning the different aspects of the disease and may provide a rational clinical target(s). Uncovering the molecular mechanisms of the disease is important in understanding systemic sclerosis treatment. The aim of this review was to examine the current thinking in SSc pathogenesis and will offer novel areas for research which may yield novel therapeutics. PMID:25712746

  11. Multiple sclerosis--new treatment modalities.

    PubMed

    Totaro, Rocco; Di Carmine, Caterina; Marini, Carmine; Carolei, Antonio

    2015-12-01

    Ever since the introduction of the first disease modifying therapies, the concept of multiple sclerosis treatment algorithms developed ceaselessly. The increasing number of available drugs is paralleled by impelling issue of ensuring the most appropriate treatment to the right patient at the right time. The purpose of this review is to describe novel agents recently approved for multiple sclerosis treatment, namely teriflunomide, alemtuzumab and dimethylfumarate, focusing on mechanism of action, efficacy data in experimental setting, safety and tolerability. The place in therapy of newer treatment implies careful balancing of risk-benefit profile as well as accurate patient selection. Hence the widening of therapeutic arsenal provides greater opportunity for personalized therapy but also entails a complex trade-off between efficacy, tolerability, safety and eventually patient preference. PMID:26831413

  12. [Common German language nomenclature for systemic sclerosis].

    PubMed

    Aringer, M; Müller-Ladner, U; Burkhardt, H; Distler, J H W; Distler, O; Graninger, W B; Günther, C; Hunzelmann, N; Kiener, H; Sticherling, M; Sunderkötter, C; Walker, U A; Riemekasten, G

    2015-03-01

    Large data bases and the projects arising from them have led to a much improved understanding of systemic sclerosis over the last decade. Serology has developed further so that more autoantibodies are available for routine testing. Capillary microscopy has become standard and relevant progress has also been made in therapy. Many diagnostic terms found in medical documentation do not adequately reflect this progress. The nomenclature is inconsistent and, therefore, confusing. The international classification of diseases (ICD) nomenclature is, from our point of view, also in need of improvement. This article aims to reestablish a common German language standard for systemic sclerosis, which reflects current knowledge and is suitable for implementation in the clinical routine. PMID:25805510

  13. Depression among the Moroccan systemic sclerosis.

    PubMed

    Wafki, Fahd; Amine, Bouchra; Ibn Yacoub, Yousra; Laatiriss, Assia; Znat, Fatima; Abouqal, Redouane; Hajjaj-Hassouni, Najia

    2012-01-01

    To determine the prevalence and predictors factors of depression in Moroccan patients with systemic sclerosis (SSc), we conducted a cross-sectional study of 59 Moroccan patients with systemic sclerosis. Patients were assessed by using the Patient Health Questionnaire depression scale "PHQ-9" and through extensive clinical histories and medical examinations. The Arabic version of HAQ and SF-36 was used to assess functional disability and health status, respectively. Forty-six patients (77.4%) presented symptoms of depression. Thirty six (61%) have a major depressive syndrome and 10 (16.4%) have a minor depressive syndrome. The PHQ-9 score was significantly higher in the patient with prolonged disease duration, severe joint pain, higher disease severity, and important acute-phase reactants. Also, depression had a negative impact on physical and mental scores. Systemic scleroderma is associated with a high prevalence of depression. Screening for depression among patients with SSc is recommended and it should be assessed for routinely. PMID:21629986

  14. Update in vitamin D and multiple sclerosis.

    PubMed

    Alharbi, Fatimah M

    2015-10-01

    Multiple sclerosis (MS) is a common neurological disease, and its etiology remains unknown. In recent years, increasing attention has been paid to the possible association between MS and vitamin D deficiency. Here, we review the current literature between MS and vitamin D, showing clear evidence that vitamin D deficiency is a risk factor for MS despite the lack of direct evidence for the effects of vitamin D in MS progression. PMID:26492110

  15. Recurrent bleeding of angiomyolipomas in tuberous sclerosis.

    PubMed

    Chatterjee, T; Heindel, W; Vorreuther, R; Engelmann, U; Lackner, K

    1996-01-01

    The diagnostic and therapeutic problems of renal hamartomas are illustrated by a case of recurrence of bleeding angiomyolipomas associated with tuberous sclerosis. Ultrasound and computed tomography provide clear evidence of lipomatous formation while, in rare instances, angiography can demonstrate the existence of multiple vascular tumor compartments. In view of the risk of bleeding, multiple or very large angiomyolipomas should be treated by interventional radiology in the form of superselective tumor embolization or by the most conservative surgery possible. PMID:8903555

  16. Current developments in pharmacogenomics of multiple sclerosis.

    PubMed

    Carlson, Rebecca J; Doucette, J Ronald; Nazarali, Adil J

    2014-11-01

    Pharmacogenomics has a significant potential to impact how we treat diseases. It involves targeting genetically identifiable populations with therapeutic interventions that promises to yield immediate positive health outcomes with lower or no side effects. The 'trial and error' method of treatment will no longer be necessary with the successful implementation of personalized medicine. The following is an overview of some new developments in pharmacogenomics of multiple sclerosis, and how it has the potential to improve future treatment. PMID:25118615

  17. Diagnosis and management of multiple sclerosis.

    PubMed

    Calabresi, Peter A

    2004-11-15

    Multiple sclerosis, an idiopathic inflammatory disease of the central nervous system, is characterized pathologically by demyelination and subsequent axonal degeneration. The disease commonly presents in young adults and affects twice as many women as men. Common presenting symptoms include numbness, weakness, visual impairment, loss of balance, dizziness, urinary bladder urgency, fatigue, and depression. The diagnosis of multiple sclerosis should be made by a physician with experience in identifying the disease. Diagnosis should be based on objective evidence of two or more neurologic signs that are localized to the brain or spinal cord and are disseminated in time and space (i.e., occur in different parts of the central nervous system at least three months apart). Magnetic resonance imaging with gadolinium contrast, especially during or following a first attack, can be helpful in providing evidence of lesions in other parts of the brain and spinal cord. A second magnetic resonance scan may be useful at least three months after the initial attack to identify new lesions and provide evidence of dissemination over time. It is critical to exclude other diseases that can mimic multiple sclerosis, including vascular disease, spinal cord compression, vitamin B12 deficiency, central nervous system infection (e.g., Lyme disease, syphilis), and other inflammatory conditions (e.g., sarcoidosis, systemic lupus erythematosus, Sjögren's syndrome). Symptom-specific drugs can relieve spasticity, bladder dysfunction, depression, and fatigue. Five disease-modifying treatments for multiple sclerosis have been approved by the U.S. Food and Drug Administration. These treatments are partially effective in reducing exacerbations and may slow progression of disability. PMID:15571060

  18. Gastric Antral Vascular Ectasia in Systemic Sclerosis

    PubMed Central

    Johnson, Jill; Derk, Chris T.

    2011-01-01

    Gastric antral vascular ectasia is a not so well-understood, and more rare, gastrointestinal manifestation of Systemic Sclerosis which can lead to chronic anemia. A high suspicion and better understanding of this rare manifestation is needed for early detection and treatment. Therapeutic regiments include iron supplementation with acid suppressive therapy, while endoscopic intervention has been shown to be successful in most cases, with gastrectomy or antrectomy rarely needed. PMID:22121374

  19. Progressive multiple sclerosis: characteristics and management.

    PubMed

    Hawker, Kathleen

    2011-05-01

    Progressive multiple sclerosis (MS) consists of 3 phenotypic subtypes: secondary progressive MS, primary progressive MS, and progressive relapsing MS. There has been a paucity of approved treatments for these subtypes possibly driven by irreversible neurodegeneration within the central nervous system and not amenable to drugs that target inflammation. This article reviews magnetic resonance imaging and clinical data that show that progression may occur early in the course of MS and specific subsets of progressive patients may respond to disease modifying drugs. PMID:21439451

  20. Update in vitamin D and multiple sclerosis

    PubMed Central

    Alharbi, Fatimah M.

    2015-01-01

    Multiple sclerosis (MS) is a common neurological disease, and its etiology remains unknown. In recent years, increasing attention has been paid to the possible association between MS and vitamin D deficiency. Here, we review the current literature between MS and vitamin D, showing clear evidence that vitamin D deficiency is a risk factor for MS despite the lack of direct evidence for the effects of vitamin D in MS progression. PMID:26492110

  1. Pulmonary Arterial Hypertension-A Deadly Complication of Systemic Sclerosis

    PubMed Central

    Pankey, Edward A; Epps, Matthew; Nossaman, Bobby D; Hyman, Albert L; Kadowitz, Philip J

    2011-01-01

    Pulmonary arterial hypertension (PAH) is a devastating disease with limited therapeutic options. Moreover, when PAH occurs in patients diagnosed with systemic sclerosis, worse outcomes are observed. The purpose of this review is to discuss the etiologies of PAH found in the systemic sclerosis patient, limitations of current medical therapies, and, finally, potential therapies for patients with this combination. PMID:23626904

  2. Tuberous Sclerosis Complex: A Roadmap for Future Research.

    PubMed

    Jeong, Anna

    2016-07-01

    Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals. PMID:27617567

  3. Neuroepileptic Correlates of Autistic Symptomatology in Tuberous Sclerosis

    ERIC Educational Resources Information Center

    Bolton, Patrick F.

    2004-01-01

    Tuberous sclerosis is a genetic condition that is strongly associated with the development of an autism spectrum disorder. However, there is marked variability in expression, and only a subset of children with tuberous sclerosis develop autism spectrum disorder. Clarification of the mechanisms that underlie the association and variability in…

  4. Temporal lobe lesions and psychosis in multiple sclerosis

    PubMed Central

    Yadav, R; Zigmond, A S

    2010-01-01

    Lesions in the temporal lobe are associated with psychiatric manifestations in multiple sclerosis. The authors describe this case of a young man with multiple sclerosis who presented with first-episode psychosis and had acute lesions in the temporal lobe. He was successfully treated with olanzapine and β-interferon. PMID:22789690

  5. Clustering of multiple sclerosis in Galion, Ohio, 1982-1985

    SciTech Connect

    Ingalls, T.H. )

    1989-09-01

    Epidemiologic evidence indicates that the outbreak of 30-40 cases of multiple sclerosis and other demyelinating syndromes in Galion, Ohio, USA, during 1982-1985 was related to an excess concentration of heavy-metal wastes, especially of cadmium and chromium in sewage and river water. Both multiple sclerosis and myasthenia gravis were diagnosed by board-certified neurologists.

  6. Disconnection as a Mechanism for Cognitive Dysfunction in Multiple Sclerosis

    ERIC Educational Resources Information Center

    Dineen, R. A.; Vilisaar, J.; Hlinka, J.; Bradshaw, C. M.; Morgan, P. S.; Constantinescu, C. S.; Auer, D. P.

    2009-01-01

    Disconnection of cognitively important processing regions by injury to the interconnecting white matter provides a potential mechanism for cognitive dysfunction in multiple sclerosis. The contribution of tract-specific white matter injury to dysfunction in different cognitive domains in patients with multiple sclerosis has not previously been…

  7. Endogenous Task Shift Processes in Relapsing-Remitting Multiple Sclerosis

    ERIC Educational Resources Information Center

    Stablum, F.; Meligrana, L.; Sgaramella, T.; Bortolon, F.; Toso, V.

    2004-01-01

    This paper reports a study that was aimed to evaluate executive functions in relapsing-remitting multiple sclerosis patients. The groups tested comprised 22 relapsing-remitting multiple sclerosis patients, and 22 non-brain damaged controls. When one is engaged in two speeded tasks, not simultaneously but with some form of alternation, it is slower…

  8. [Seizure and Bourneville tuberous sclerosis: think about insulinoma].

    PubMed

    Le Berre, J-P; Bey Boeglin, M; Duverger, V; Garcia, C; Bordier, L; Dupuy, O; Mayaudon, H; Bauduceau, B

    2009-02-01

    Bourneville tuberous sclerosis is a phacomatosis characterized by skin, neurological and ophthalmological lesions. At first, seizure can reveal cerebral lesions, but other causes may be suspected. We report a case of a Bourneville tuberous sclerosis in a 41-year-old-man with hypoglycemia leading to seizures, resulting from an insulinoma. PMID:18539363

  9. [The role of vitamin D in multiple sclerosis].

    PubMed

    Kfoczyńska, Medea; Kucharska, Alicja; Sińska, Beata

    2015-01-01

    Multiple sclerosis is a chronic, inflammatory, demyelinating disease which affects the central nervous system and is linked to autoimmune disorders. Although the precise causes of multiple sclerosis remain unknown, some evidence points towards hypovitaminosis D. Apart from the maintenance of calcium and phosphorus homeostasis, vitamin D also plays a major role in other aspects of human health. It is caused by the vitamin D receptor, which is present in many human organs and tissues. Vitamin D is an immunomodulating factor and accordingly has a potential to be effective in both preventing and treating autoimmune diseases, including multiple sclerosis. The aim of this review was to present up-to-date knowledge about vitamin D, especially its impact on risk of multiple sclerosis onset, relapses, and potential to modify the immune response. A further objective was to describe the role of vitamin D supplementation and its provision in the everyday diet for both prevention and treatment of multiple sclerosis. PMID:25897104

  10. "Disease modifying nutricals" for multiple sclerosis.

    PubMed

    Schmitz, Katja; Barthelmes, Julia; Stolz, Leonie; Beyer, Susanne; Diehl, Olaf; Tegeder, Irmgard

    2015-04-01

    The association between vitamin D and multiple sclerosis has (re)-opened new interest in nutrition and natural compounds in the prevention and treatment of this neuroinflammatory disease. The dietary amount and type of fat, probiotics and biologicals, salmon proteoglycans, phytoestrogens and protease inhibitor of soy, sodium chloride and trace elements, and fat soluble vitamins including D, A and E were all considered as disease-modifying nutraceuticals. Studies in experimental autoimmune encephalomyelitis mice suggest that poly-unsaturated fatty acids and their 'inflammation-resolving' metabolites and the gut microflora may reduce auto-aggressive immune cells and reduce progression or risk of relapse, and infection with whipworm eggs may positively change the gut-brain communication. Encouraged by the recent interest in multiple sclerosis-nutrition nature's pharmacy has been searched for novel compounds with anti-inflammatory, immune-modifying and antioxidative properties, the most interesting being the scorpion toxins that inhibit specific potassium channels of T cells and antioxidative compounds including the green tea flavonoid epigallocatechin-3-gallate, curcumin and the mustard oil glycoside from e.g. broccoli and sulforaphane. They mostly also inhibit pro-inflammatory signaling through NF-κB or toll-like receptors and stabilize the blood brain barrier. Disease modifying functions may also complement analgesic and anti-spastic effects of cannabis, its constituents, and of 'endocannabinoid enhancing' drugs or nutricals like inhibitors of fatty acid amide hydrolase. Nutricals will not solve multiple sclerosis therapeutic challenges but possibly support pharmacological interventions or unearth novel structures. PMID:25435020

  11. [Update on Current Care Guideline: Multiple sclerosis].

    PubMed

    Remes, Anne; Airas, Laura; Atula, Sari; Färkkilä, Markus; Hartikainen, Päivi; Koivisto, Keijo; Mäenpää, Eliisa; Ruutiainen, Juhani; Sumelahti, Marja-Liisa

    2015-01-01

    Treatment for relapsing-remitting multiple sclerosis (RRMS) is initiated upon fulfillment of new McDonald 2010 criteria for RRMS. In addition, lumbar puncture is an essential diagnostic method. Interferon-β, dimethyl fumarate, glatiramer acetate and teriflunomide are the first-line immunomodulating drugs (IMD) for RRMS. If the disease is active according to clinical or MRI evaluation during the first-line IMD treatment, alemtuzumab, fingolimod or natalizumab may be considered as second-line therapies. IMD treatment is discontinued upon the transition of RRMS to secondary progressive phase. Rehabilitation should be considered at every phase of the disease. PMID:26237913

  12. Ultraviolet radiation, vitamin D and multiple sclerosis.

    PubMed

    Lucas, Robyn M; Byrne, Scott N; Correale, Jorge; Ilschner, Susanne; Hart, Prue H

    2015-10-01

    There is compelling epidemiological evidence that the risk of developing multiple sclerosis is increased in association with low levels of sun exposure, possibly because this is associated with low vitamin D status. Recent work highlights both vitamin D and non-vitamin D effects on cellular immunity that suggests that higher levels of sun exposure and/or vitamin D status are beneficial for both MS risk and in ameliorating disease progression. Here we review this recent evidence, focusing on regulatory cells, dendritic cells, and chemokines and cytokines released from the skin following exposure to ultraviolet radiation. PMID:26477548

  13. Heterogeneity versus homogeneity of multiple sclerosis

    PubMed Central

    Sato, Fumitaka; Martinez, Nicholas E; Omura, Seiichi; Tsunoda, Ikuo

    2011-01-01

    The 10th International Congress of Neuroimmunology, including the 10th European School of Neuroimmunology Course, was held by the International Society of Neuroimmunology in Sitges (Barcelona, Spain) on 26–30 October 2010. The conference covered a wide spectrum of issues and challenges in both basic science and clinical aspects of neuroimmunology. Data and ideas were shared through a variety of programs, including review talks and poster sessions. One of the topics of the congress was whether multiple sclerosis is a homogenous or heterogenous disease, clinically and pathologically, throughout its course. PMID:21426254

  14. Vascular involvement in systemic sclerosis (scleroderma)

    PubMed Central

    Pattanaik, Debendra; Brown, Monica; Postlethwaite, Arnold E

    2011-01-01

    Systemic sclerosis (SSc) is an acquired multiorgan connective tissue disease with variable mortality and morbidity dictated by clinical subset type. The etiology of the basic disease and pathogenesis of the systemic autoimmunity, fibrosis, and fibroproliferative vasculopathy are unknown and debated. In this review, the spectrum of vascular abnormalities and the options currently available to treat the vascular manifestations of SSc are discussed. Also discussed is how the hallmark pathologies (ie, how autoimmunity, vasculopathy, and fibrosis of the disease) might be effected and interconnected with modulatory input from lysophospholipids, sphingosine 1-phosphate, and lysophosphatidic acid. PMID:22096374

  15. Quantifying Disease Progression in Amyotrophic Lateral Sclerosis

    PubMed Central

    Simon, Neil G; Turner, Martin R; Vucic, Steve; Al-Chalabi, Ammar; Shefner, Jeremy; Lomen-Hoerth, Catherine; Kiernan, Matthew C

    2014-01-01

    Amyotrophic lateral sclerosis (ALS) exhibits characteristic variability of onset and rate of disease progression, with inherent clinical heterogeneity making disease quantitation difficult. Recent advances in understanding pathogenic mechanisms linked to the development of ALS impose an increasing need to develop strategies to predict and more objectively measure disease progression. This review explores phenotypic and genetic determinants of disease progression in ALS, and examines established and evolving biomarkers that may contribute to robust measurement in longitudinal clinical studies. With targeted neuroprotective strategies on the horizon, developing efficiencies in clinical trial design may facilitate timely entry of novel treatments into the clinic. PMID:25223628

  16. Improving reporting of multiple sclerosis relapse.

    PubMed

    Roberts, Megan; Lush, Tessa; Pohorely, John

    Many people with multiple sclerosis do not report a relapse. When it is reported, it is not always recorded in their notes. This can mean patients do not always have the most appropriate treatment. This article reviews some of the reasons why relapse reports are lacking and how the problem could be addressed. As a result, the decision was made to develop an app that patients could use to record their symptoms and wellbeing over time, to help identify and record relapses. Information could then be passed to their health professional via email, if desired. PMID:26775329

  17. MRI differential diagnosis of suspected multiple sclerosis.

    PubMed

    Chen, J J; Carletti, F; Young, V; Mckean, D; Quaghebeur, G

    2016-09-01

    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. PMID:27349475

  18. Monthly distribution of multiple sclerosis patients' births

    NASA Astrophysics Data System (ADS)

    Bharanidharan, Padmanabhan

    As part of an integrated geographical and environmental epidemiological study of multiple sclerosis (MS) in Budapest's Pesterzsébet district, many biometeorological variables were specifically examined. Also, the monthly distribution of birthdates of MS patients resident in the district was plotted. Patients reliably diagnosed with MS were found to have been born in greater numbers in the months of April and October, precisely 6 months apart. This finding indicates the presence of natural non-genetic factors in the creation of MS susceptibility, affecting the nervous system at the crucial time of myelination.

  19. [Dissociated sensory loss syndrome in multiple sclerosis].

    PubMed

    Peres Serra, J; Martínez Yélamos, S; Ballabriga Planas, J; Basart Tarrats, E; Arbizu Urdiain, T

    1994-01-01

    Spatial and temporal dissemination of demyelinating lesions continue to provide the basis for diagnosing multiple sclerosis (MS). We describe 20 patients (from a series of 234 with MS) who experienced flare-ups consistent with sensory suspension syndrome (SSS). The presence of syringomyelic cavities (non communicating syringomyelia) was ruled out by nuclear magnetic resonance imaging (NMR). We discuss the possible locations of lesions responsible for this syndrome: the trigeminus, dorsal root entry zones, anterior medullary white matter, and the mid-lateral portion of the spinothalamic tract. MS should be included as a differential diagnosis in young patients presenting with SSS. PMID:8086185

  20. Multiple sclerosis with caudate lesions on MRI.

    PubMed

    Hashiguchi, S; Ogasawara, N; Mine, H; Kawachi, Y

    2001-04-01

    A 31-year-old woman displayed sleepiness and impairment of recent memory. T2-weighted MRI revealed high signal intensity lesions in the bilateral basal ganglia, thalamus, and brainstem. Although remission was achieved with corticosteroid therapy, she again displayed memory dysfunction and emotional disturbance one year later, at which time MRI disclosed new lesions in the right caudate nucleus and left frontal white matter. Corticosteroid therapy lead to improvement, and she suffered no recurrence on maintenance steroid therapy. These findings suggest that caudate lesions do occur in multiple sclerosis, the manifestations of which can be abulia and memory dysfunction, as in the present case. PMID:11334400

  1. Developing a community multiple sclerosis nursing service.

    PubMed

    Quinn, Debbie; Adams, John

    2014-05-20

    Reforms to the NHS following the passing of the Health and Social Care Act 2012 have created new purchaser organisations with responsibility for planning the configuration of healthcare services in their geographic areas. If a community multiple sclerosis (MS) nursing service is to survive in this environment, it must demonstrate its ability to contribute to achieving the purchaser organisations' objectives. Evaluation data, such as hospital admission avoidance and patient satisfaction, will be crucial in demonstrating the community MS nursing service's clinical and economic effectiveness. A strengths, weaknesses, opportunities and threats (SWOT) analysis of the issues facing a community MS service in this environment is provided. PMID:24823591

  2. Systemic Sclerosis with Multiple Pulmonary Manifestations

    PubMed Central

    Suresh, Parinita; Reddy, Venkata Siva Prasad; Sharma, Tarun; Salim, Nabil Ahmed

    2016-01-01

    Systemic sclerosis (SSc) is a chronic autoimmune multisystem disorder characterized by endothelial dysfunction and fibroblast dysfunction, which results in progressive fibrosis of the skin and internal organs more frequently the lungs and gastro intestinal tract. Pulmonary involvement is common in the course of SSc, with Interstitial Lung Disease (ILD) and Pulmonary Arterial Hypertension (PAH) being the leading causes of death. Here we report, case of an elderly female patient presenting with Diffuse SSc with multiple uncommon pulmonary manifestations like ILD with Usual Interstitial Pneumonia (UIP) pattern (usually less common), PAH and right sided pleural effusion. PMID:27504339

  3. Is there a pulse wave encephalopathy component to multiple sclerosis?

    PubMed

    Juurlink, Bernhard H J

    2015-01-01

    The dominant hypothesis in multiple sclerosis is that it is an autoimmune disease; however, there is considerable evidence that the immune attack on myelin may be secondary to a cytodegenerative event. Furthermore, the immune modulating therapies longest in clinical use, although modulating the frequency and severity of exacerbation, do not affect long-term progression towards disability. Clearly alternative perspectives on the etiology of multiple sclerosis are warranted. In this paper I outline the commonalities between idiopathic normal pressure hydrocephalus and multiple sclerosis. These include decreased intracranial compliance as evidenced by increased cerebrospinal fluid volume and velocity of cerebrospinal fluid flow through the cerebral aqueduct; increased ventricular volume; periventricular demyelination lesions; increase in size of Virchow-Robin spaces; presence of Hakim's triad comprised of locomotory disabilities, cognitive problems and bladder control problems. Furthermore, multiple sclerosis is associated with decreased arterial compliance. These are all suggestive that there is a pulse wave encephalopathy component to multiple sclerosis. There are enough resemblances between normal pressure hydrocephalus and multiple sclerosis to warrant further investigation. Whether decreases in intracranial compliance is a consequence of multiple sclerosis or is a causal factor is unknown. Effective therapies can only be developed when the etiology of the disease is understood. PMID:25760216

  4. Supporting work for people with multiple sclerosis.

    PubMed

    Doogan, Catherine; Playford, E Diane

    2014-05-01

    People with multiple sclerosis experience some of the highest rates of unemployment among groups of individuals with severe and chronic disabilities. While unpredictable relapses, physical and cognitive symptoms all may play a role in job loss, it is more likely that job loss can be attributed to a complex interaction between disease-related factors and contextual factors, such as the working environment, and employer attitudes. This interaction leads to the concept of work instability, that is, the mismatch between work demands and the individual's capacity to meet these demands. Vocational rehabilitation services aim to provide people with multiple sclerosis vocational assessment, rehabilitation and support to enable them to find, regain or remain in work and access other occupational and educational opportunities. Such services consist of a multidisciplinary team with the ability to provide education around disclosure, and work-place accommodations, offer emotional support, maintain work performance, liaise with employers, and support to re-enter the workplace. Helpful interventions include early disclosure, proper workplace accommodation, education of employers, and government-funded initiatives to support disabled employees. Future research needs to agree on methods of recording outcomes and evaluate specific vocational rehabilitation interventions. PMID:24526662

  5. Pregnancy in Multiple Sclerosis: A Questionnaire Study

    PubMed Central

    Borisow, Nadja; Paul, Friedemann; Ohlraun, Stephanie; Pach, Daniel; Fischer, Felix; Dörr, Jan

    2014-01-01

    Background Multiple sclerosis (MS) preferentially affects females at childbearing age. For this reason patients and treating physicians were frequently confronted with questions concerning family planning, pregnancy and birth. Objective The aim of this study was to evaluate the expertise about pregnancy related topics in multiple sclerosis of neurologists in private practice. Methods We developed a survey with 16 multiple choice questions about pregnancy related topics and sent it to neurologists in private practice in Berlin, Germany. Results 56 completed questionnaires were sent back. 54% of all questions were answered correctly, 21% of the questions were answered with “I don’t know”. Correct answers were more often given by physicians who treat more than 400 MS patients per year (p = 0.001). Further positive associations were found for assumed relevance of the topic (p = 0.002) and the degree of counseling (p<0.001). Conclusion To provide a comprehensive counseling, MS patients with desire for children should be counseled by physicians with a lot of experience in MS treatment. PMID:24901447

  6. Amyotrophic lateral sclerosis: one or multiple causes?

    PubMed Central

    Bastos, Aline Furtado; Orsini, Marco; Machado, Dionis; Mello, Mariana Pimentel; Nader, Sergio; Silva, Júlio Guilherme; da Silva Catharino, Antonio M.; de Freitas, Marcos R.G.; Pereira, Alessandra; Pessoa, Luciane Lacerda; Sztajnbok, Flavio R.; Leite, Marco Araújo; Nascimento, Osvaldo J.M.; Bastos, Victor Hugo

    2011-01-01

    The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients. PMID:21785676

  7. The cost of multiple sclerosis in Norway.

    PubMed

    Svendsen, B; Myhr, K-M; Nyland, H; Aarseth, J H

    2012-02-01

    Health economic aspects have been increasingly important during introduction of new treatments for multiple sclerosis. As a partial response for Norway, a cost-of-illness study was carried out to estimate the yearly cost of the illness to society and relate costs and patients' quality of life to illness severity. Estimated cost to society was Euro 439 million in 2002 exclusive of the cost of reduced quality of life. The cost per patient was close to Euro 65,000. Account taken of methodological differences, the results compare to results for Sweden, Norway's closest neighboring country. The illness reduced patients' quality of life with 0.26. More patients were early retired because of their MS in Norway than in any of nine other European countries comprised by a recent European study, illustrating a liberal practice in Norway. The Norwegian cost of unpaid assistance was almost identical to the Swedish cost that was the lowest found across the countries in the European study. When related to illness severity, the cost per patient increased, and the patients' experienced quality of life decreased with increasing EDSS levels in line with what has been found for other countries. Cost-of-MS studies have been carried out for a number of countries. Together they contribute to our understanding of the economic consequences of multiple sclerosis and, if their results are related to illness severity, also provide valuable information for further economic analyses of treatment and medication. Our study adds to this. PMID:21080024

  8. Job satisfaction among multiple sclerosis certified nurses.

    PubMed

    Gulick, Elsie E; Halper, June; Costello, Kathleen

    2007-08-01

    Several studies document high levels of job satisfaction among certified nurses, but no study has examined job satisfaction and factors influencing job satisfaction of certified multiple sclerosis (MS) nurses. This study tested a theoretical model proposing that two organizational factors, colleague relationships and benefits, will predict job satisfaction. Job satisfaction was represented by four factors: autonomy, professional status, professional growth, and time efficiency. Participants included MS nurses certified for 6 months or more practicing mostly in three countries (Canada, Great Britain, and the United States) who anonymously completed the Misener Nurse Practitioner Job Satisfaction Scale, an overall job satisfaction rating, and demographic information. Findings indicate that colleague relationships and benefits significantly estimated organization structure and that autonomy, professional status, professional growth, and time efficiency significantly estimated job satisfaction; furthermore, organization factors such as colleague relationships and benefits significantly predict job satisfaction. Among the countries, several statistically significant differences were observed between job satisfaction factors as well as items in both organization and job satisfaction subscales. Average factor scores among the countries were mostly rated satisfactory. The International Organization of Multiple Sclerosis Nurses Executive Board plans to use the study findings to see how it needs to focus efforts as an organization toward enhancing and standardizing MS care and develop MS nurse professionalism worldwide. PMID:17847673

  9. Update on treatments in multiple sclerosis.

    PubMed

    Michel, Laure; Larochelle, Catherine; Prat, Alexandre

    2015-04-01

    While there is no cure for multiple sclerosis (MS), numerous disease-modifying drugs are now available to treat MS patients. In fact, the therapeutic strategies are now more and more complex, directly impacting the management of patients. Despite the good safety profile of the first-line immunomodulatory drugs, the clinical response is often suboptimal. Important questions remain about the right timing to switch for a second-line agent and whether escalation therapy is an appropriate therapeutic strategy. In this review, we conducted a systematic search by PubMed using the terms: treatment, multiple sclerosis, therapeutic, DMT and treatment response. Randomized trials and reviews addressing MS, DMTs and management strategies were selected and included in this review. Herein, we present the currently approved and emerging drugs used for the treatment of MS with their relative benefit/risk profiles, and their respective positions in the therapeutic arsenal. We then focused on the different therapeutic strategies and criteria available to evaluate the response to disease-modifying therapies (DMTs). PMID:25813102

  10. Complementary and alternative medicine for multiple sclerosis.

    PubMed

    Schwarz, S; Knorr, C; Geiger, H; Flachenecker, P

    2008-09-01

    We analyzed characteristics, motivation, and effectiveness of complementary and alternative medicine in a large sample of people with multiple sclerosis. A 53-item survey was mailed to the members of the German Multiple Sclerosis Society, chapter of Baden-Wuerttemberg. Surveys of 1573 patients (48.5 +/- 11.7 years, 74% women, duration of illness 18.1 +/- 10.5 years) were analyzed. In comparison with conventional medicine, more patients displayed a positive attitude toward complementary and alternative medicine (44% vs 38%, P < 0.05), with 70% reporting lifetime use of at least one method. Among a wide variety of complementary and alternative medicine, diet modification (41%), Omega-3 fatty acids (37%), removal of amalgam fillings (28%), vitamins E (28%), B (36%), and C (28%), homeopathy (26%), and selenium (24%) were cited most frequently. Most respondents (69%) were satisfied with the effects of complementary and alternative medicine. Use of complementary and alternative medicine was associated with religiosity, functional independence, female sex, white-collar job, and higher education (P < 0.05). Compared with conventional therapies, complementary and alternative medicine rarely showed unwanted side effects (9% vs 59%, P < 0.00001). A total of 52% stated that the initial consultation with their physician lasted less than 15 min. To conclude, main reasons for the use of complementary and alternative medicine include the high rate of side effects and low levels of satisfaction with conventional treatments and brief patients/physicians contacts. PMID:18632773

  11. [Spatial contrast sensitivity in multiple sclerosis].

    PubMed

    Vighetto, A; Grochowicki, M; Cousin, J

    1990-01-01

    Spatial contrast sensitivity was measured in 110 patients with multiple sclerosis (definite = 72, probable = 22, possible = 16) as part of a routine evaluation in a neuro-ophthalmological clinic. Results were compared with those of 37 normal controls matched for age. The test was abnormal in 71 p. 100 of patients. Contrast sensitivity was attenuated for 97 p. 100 of the eyes with optic neuritis and visual acuity drop, for 60 p. 100 of the eyes with recovered optic neuritis and for 36 p. 100 of the non affected eyes in the cases of unilateral optic neuritis. Among the 57 patients with normal visual acuity and no history of optic neuritis, 62 p. 100 had abnormal findings. Globally, contrast sensitivity was reduced on the whole spatial frequency range in cases of current optic neuritis, and mostly on the high or high and medium frequencies in the other cases. Our study confirms that spatial contrast sensitivity is the most sensitive of psychophysical methods to detect subclinical visual impairement in multiple sclerosis. Comparison with VEP's was performed in 66 patients. Both tests were roughly equally sensitive, but findings were concordant in only 63 p. 100 of the cases. The use of both VEP's and spatial contrast sensitivity increases the detection of latent optic neuritis. PMID:2359900

  12. Update on rehabilitation in multiple sclerosis.

    PubMed

    Donzé, Cécile

    2015-04-01

    Given that mobility impairment is a hallmark of multiple sclerosis, people with this disease are likely to benefit from rehabilitation therapy throughout the course of their illness. The review provides an update on rehabilitation focused on balance and walking impairment. Classical rehabilitation focusing on muscle rehabilitation, neurotherapeutic facilitation is effective and recommended. Other techniques did not prove their superiority: transcutaneal neurostimulation, repetitive magnetic stimulation, electromagnetic therapy, whole body vibration and robot-assisted gait rehabilitation and need more studies to conclude. Cooling therapy, hydrotherapy, orthoses and textured insoles could represent a complementary service to other techniques in specific conditions. Multidisciplinary rehabilitation program provides positive effects and high satisfaction for patients with multiple sclerosis but needs more evaluation. New technologies using serious game and telerehabilitation seem to be an interesting technique to promote physical activity, self-management and quality of life. Rehabilitation like other therapy needs regular clinical evaluation to adapt the program and propose appropriate techniques. Moreover, the objective of rehabilitation needs to be decided with the patient with realistic expectation. PMID:25746432

  13. The present efficacy of multiple sclerosis therapeutics

    PubMed Central

    Klawiter, Eric C.; Cross, Anne H.; Naismith, Robert T.

    2009-01-01

    A challenge for the clinician treating patients with multiple sclerosis (MS) is to determine the most effective treatment while weighing the benefits and risks. Results of the phase 2 and phase 3 studies on natalizumab were received with great interest, in part due to the “improved” risk reduction for relapse rate, disease progression, and MRI metrics observed in comparison to results in trials of beta-interferon and glatiramer acetate. However, comparison across trials is invalid, in large part due to differences in the study populations. The increased efficacy observed in more recent trials has also been attributed to a fundamental change in subjects with MS enrolled in recent trials compared with the prior decade. In this article, we debate the relative efficacy of natalizumab vs the older injectable therapies. GLOSSARY ARR = absolute risk reduction; CIS = clinically isolated syndrome; DMT = disease-modulating therapy; EDSS = Expanded Disability Status Scale; FDA = Food and Drug Administration; GA = glatiramer acetate; IFN = interferon; MS = multiple sclerosis; NNT = number needed to treat; PML = progressive multifocal leukoencephalopathy; RRMS = relapsing-remitting MS; RRR = relative risk reduction. PMID:19770475

  14. A biopsychosocial model of resilience for multiple sclerosis.

    PubMed

    Black, Rebecca; Dorstyn, Diana

    2015-11-01

    The concept of resilience remains under-researched in the multiple sclerosis literature. Consequently, current understanding of the unique and joint contribution of disability-specific variables, cognitive-behavioural skills and social resources to this dynamic process is limited. A holistic model of resilience was therefore developed and tested. Results of an online survey completed by 196 adults with multiple sclerosis revealed both direct and indirect pathways to resilience, with positive affect and self-efficacy being the strongest predictors. The findings lend support to psychological interventions which focus on promoting the personal resources and assets needed to cope effectively with multiple sclerosis. PMID:24323335

  15. Update on immunopathogenesis and immunotherapy in multiple sclerosis

    PubMed Central

    Selter, Rebecca C; Hemmer, Bernhard

    2013-01-01

    Multiple sclerosis is a chronic inflammatory demyelinating disease of the central nervous system. Both genetic and environmental factors are believed to contribute to the pathogenesis of the disease. Histopathological findings suggest that multiple sclerosis is an immune-mediated disease, involving both the cellular and humoral immune systems. Within the last 20 years, several disease-modifying therapies for the treatment of multiple sclerosis were established. Moreover, promising new substances are currently being tested in clinical trials and will likely broaden the therapeutic opportunities available within the upcoming years.

  16. Temporal Lobe Sclerosis Associated with Hippocampal Sclerosis in Temporal Lobe Epilepsy: Neuropathological Features

    PubMed Central

    Thom, Maria; Eriksson, Sofia; Martinian, Lillian; Caboclo, Luis O.; McEvoy, Andrew W.; Duncan, John S.; Sisodiya, Sanjay M.

    2009-01-01

    Widespread changes involving neocortical as well as mesial temporal lobe structures can be present in patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS). The incidence, pathology and clinical significance of neocortical temporal lobe sclerosis (TLS) are not well characterized. We identified TLS in 30 out of 272 surgically treated cases of HS. TLS was defined by variable reduction of neurons from cortical layers II/III and laminar gliosis; it was typically accompanied by additional architectural abnormalities of layer II, i.e. abnormal neuronal orientation and aggregation. Quantitative analysis including tessellation methods for the distribution of layer II neurons supported these observations. In 40% of cases there was a gradient of TLS with more severe involvement towards the temporal pole, possibly signifying involvement of hippocampal projection pathways. There was a history of a febrile seizure as an initial precipitating injury in 73% of patients with TLS compared to 36% without TLS; no other clinical differences TLS and non-TLS cases were identified. TLS was not evident pre-operatively by neuroimaging. No obvious effect of TLS on seizure outcome was noted after temporal lobe resection; 73% became seizure-free at 2 year follow up. In conclusion, approximately 11% of surgically treated HS is accompanied by TLS. TLS is likely an acquired process with accompanying re-organizational dysplasia and an extension of mesial temporal sclerosis rather than a separate pathological entity. PMID:19606061

  17. Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations.

    PubMed

    Gipson, Tanjala T; Poretti, Andrea; Thomas, Emily A; Jenkins, Kosunique T; Desai, Sonal; Johnston, Michael V

    2015-12-01

    Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to tuberous sclerosis complex that require consideration before diagnosing an autism spectrum disorder. Identifying distinct profiles of autism spectrum disorder in tuberous sclerosis complex can help optimize treatment across the life span. PMID:26303410

  18. Melatonin Contributes to the Seasonality of Multiple Sclerosis Relapses.

    PubMed

    Farez, Mauricio F; Mascanfroni, Ivan D; Méndez-Huergo, Santiago P; Yeste, Ada; Murugaiyan, Gopal; Garo, Lucien P; Balbuena Aguirre, María E; Patel, Bonny; Ysrraelit, María C; Zhu, Chen; Kuchroo, Vijay K; Rabinovich, Gabriel A; Quintana, Francisco J; Correale, Jorge

    2015-09-10

    Seasonal changes in disease activity have been observed in multiple sclerosis, an autoimmune disorder that affects the CNS. These epidemiological observations suggest that environmental factors influence the disease course. Here, we report that melatonin levels, whose production is modulated by seasonal variations in night length, negatively correlate with multiple sclerosis activity in humans. Treatment with melatonin ameliorates disease in an experimental model of multiple sclerosis and directly interferes with the differentiation of human and mouse T cells. Melatonin induces the expression of the repressor transcription factor Nfil3, blocking the differentiation of pathogenic Th17 cells and boosts the generation of protective Tr1 cells via Erk1/2 and the transactivation of the IL-10 promoter by ROR-α. These results suggest that melatonin is another example of how environmental-driven cues can impact T cell differentiation and have implications for autoimmune disorders such as multiple sclerosis. PMID:26359987

  19. [Uncommon presentation of tuberous sclerosis in an infant].

    PubMed

    Denne, C; Gerstl, E-M; Mayer, K; Steinborn, M; Hahn, H; Burdach, S

    2011-06-01

    We report on an infant with an unusual presentation of tuberous sclerosis. After uncomplicated birth, a routine ultrasound was performed because the patient's brother had undergone nephrectomy at the age of four months due to multicystic renal dysplasia. All other family members were healthy. Multiple renal cysts were found in the boy's left kidney. The right kidney, which was normal initially, showed cysts after a few months. In a follow-up sonography at the age of 10 months, we found an aortic aneurysm measuring 4 × 7 cm. A brain NMR showed typical signs of tuberous sclerosis. Aortic aneurysm is very rarely associated with tuberous sclerosis. As a TSC2/PKD1 contiguous gene syndrome was excluded, in this case the child probably has two different diseases, i.e. tuberous sclerosis in addition to phenotypically unusual multicystic renal dysplasia. PMID:21514802

  20. Axillary vein thrombosis in adolescent onset systemic sclerosis.

    PubMed Central

    Leak, A; Patel, K J; Tuddenham, E G; Pearson, J D; Woo, P

    1990-01-01

    A 16 year old girl with a two year history of systemic sclerosis developed left axillary vein thrombosis. Prolonged euglobulin clot lysis time, anti-endothelial cell antibodies, and raised von Willebrand factor antigen were shown. Images PMID:2383084

  1. Postsecondary Education for Individuals with Multiple Sclerosis: Issues and Strategies.

    ERIC Educational Resources Information Center

    Yagodich, Nancy L.; Wolfe, Pamela S.; Boone, Rosalie S.

    2000-01-01

    Describes characteristics of multiple sclerosis and the implications of its manifestations for postsecondary education. Provides a checklist for students selecting a postsecondary institution regarding general considerations, academic accommodations, support and services, and self-assessment. (SK)

  2. Automatic memory processes in patients with multiple sclerosis.

    PubMed

    Grafman, J; Rao, S; Bernardin, L; Leo, G J

    1991-10-01

    To better understand the nature of the memory deficit in patients with multiple sclerosis, we designed a study to compare automatic vs effortful memory processes. Forty-one patients with definite multiple sclerosis and 45 demographically matched normal control subjects were administered two tasks designed to assess both automatic (monitoring frequency and modality) and effortful (free and cued-recall) processing. Results indicated that patients with multiple sclerosis, as expected, were significantly impaired on memory measures requiring effort, but performed normally on automatic measures. Performance on the memory indexes did not correlate with self-reported depression. The implications of these findings for delineating the locus of the memory impairment in multiple sclerosis is discussed. PMID:1929900

  3. Jaw, blink and corneal reflex latencies in multiple sclerosis.

    PubMed Central

    Sanders, E A; Ongerboer de Visser, B W; Barendswaard, E C; Arts, R J

    1985-01-01

    Jaw, blink and corneal reflexes, which all involve the trigeminal system, were recorded in 54 patients with multiple sclerosis; thirty-seven of these patients were classified as having definite multiple sclerosis and 17 as indefinite multiple sclerosis, according to Schumacher's criteria. The jaw reflex was abnormal less frequently than either of the other two reflexes, but in four cases it was the only abnormal reflex found. Testing a combination of two or three trigeminal reflexes did not yield a higher incidence of abnormalities than testing the blink or corneal reflex alone. Nine patients showed abnormal reflexes which were unexpected on the basis of clinical symptoms. The combined recordings demonstrate at least one abnormal reflex in 74% of the patients. The various types of reflex abnormalities reflect major damage to different parts of the trigeminal system and may therefore make an important contribution to the diagnosis of multiple sclerosis. PMID:4087004

  4. Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.

    PubMed

    Vercruysse, Pauline; Sinniger, Jérôme; El Oussini, Hajer; Scekic-Zahirovic, Jelena; Dieterlé, Stéphane; Dengler, Reinhard; Meyer, Thomas; Zierz, Stephan; Kassubek, Jan; Fischer, Wilhelm; Dreyhaupt, Jens; Grehl, Torsten; Hermann, Andreas; Grosskreutz, Julian; Witting, Anke; Van Den Bosch, Ludo; Spreux-Varoquaux, Odile; Ludolph, Albert C; Dupuis, Luc

    2016-04-01

    Amyotrophic lateral sclerosis, the most common adult-onset motor neuron disease, leads to death within 3 to 5 years after onset. Beyond progressive motor impairment, patients with amyotrophic lateral sclerosis suffer from major defects in energy metabolism, such as weight loss, which are well correlated with survival. Indeed, nutritional intervention targeting weight loss might improve survival of patients. However, the neural mechanisms underlying metabolic impairment in patients with amyotrophic lateral sclerosis remain elusive, in particular due to the lack of longitudinal studies. Here we took advantage of samples collected during the clinical trial of pioglitazone (GERP-ALS), and characterized longitudinally energy metabolism of patients with amyotrophic lateral sclerosis in response to pioglitazone, a drug with well-characterized metabolic effects. As expected, pioglitazone decreased glycaemia, decreased liver enzymes and increased circulating adiponectin in patients with amyotrophic lateral sclerosis, showing its efficacy in the periphery. However, pioglitazone did not increase body weight of patients with amyotrophic lateral sclerosis independently of bulbar involvement. As pioglitazone increases body weight through a direct inhibition of the hypothalamic melanocortin system, we studied hypothalamic neurons producing proopiomelanocortin (POMC) and the endogenous melanocortin inhibitor agouti-related peptide (AGRP), in mice expressing amyotrophic lateral sclerosis-linked mutant SOD1(G86R). We observed lowerPomcbut higherAgrpmRNA levels in the hypothalamus of presymptomatic SOD1(G86R) mice. Consistently, numbers of POMC-positive neurons were decreased, whereas AGRP fibre density was elevated in the hypothalamic arcuate nucleus of SOD1(G86R) mice. Consistent with a defect in the hypothalamic melanocortin system, food intake after short term fasting was increased in SOD1(G86R) mice. Importantly, these findings were replicated in two other amyotrophic lateral

  5. Immunoglobulin G heavy chain (Gm) allotypes in multiple sclerosis.

    PubMed Central

    Pandey, J P; Goust, J M; Salier, J P; Fudenberg, H H

    1981-01-01

    Serum samples from 70 Caucasian patients with multiple sclerosis were typed for nine Gm markers. Significant association was found with the Gm 1,17;21 phenotype, and the relative risk for individuals with this phenotype was calculated at 3.6. The data indicate that Caucasians positive for Gm 1,17;21 are almost four times more likely to develop multiple sclerosis than those without this phenotype. PMID:6787085

  6. Immunoglobulin G heavy chain (Gm) allotypes in multiple sclerosis.

    PubMed

    Pandey, J P; Goust, J M; Salier, J P; Fudenberg, H H

    1981-06-01

    Serum samples from 70 Caucasian patients with multiple sclerosis were typed for nine Gm markers. Significant association was found with the Gm 1,17;21 phenotype, and the relative risk for individuals with this phenotype was calculated at 3.6. The data indicate that Caucasians positive for Gm 1,17;21 are almost four times more likely to develop multiple sclerosis than those without this phenotype. PMID:6787085

  7. Myelin regeneration in multiple sclerosis: targeting endogenous stem cells.

    PubMed

    Huang, Jeffrey K; Fancy, Stephen P J; Zhao, Chao; Rowitch, David H; Ffrench-Constant, Charles; Franklin, Robin J M

    2011-10-01

    Regeneration of myelin sheaths (remyelination) after central nervous system demyelination is important to restore saltatory conduction and to prevent axonal loss. In multiple sclerosis, the insufficiency of remyelination leads to the irreversible degeneration of axons and correlated clinical decline. Therefore, a regenerative strategy to encourage remyelination may protect axons and improve symptoms in multiple sclerosis. We highlight recent studies on factors that influence endogenous remyelination and potential promising pharmacological targets that may be considered for enhancing central nervous system remyelination. PMID:21904791

  8. Polymorphonuclear neutrophil function in systemic sclerosis.

    PubMed Central

    Czirják, L; Dankó, K; Sipka, S; Zeher, M; Szegedi, G

    1987-01-01

    In vitro functions of polymorphonuclear (PMN) neutrophils were studied in 20 patients with progressive systemic sclerosis (PSS). An increase in the basal chemiluminescence (CL) activity of peripheral blood PMNs was found, suggesting that these cells had been preactivated in vivo. Patients with more extensive skin disease or signs of disease progression tended to have higher basal CL values. Active oxygen products during the respiratory burst may increase the extent of inflammatory and fibrotic processes and could be involved in the endothelial injury in PSS. The stimulatory capacity of CL response was normal in our study. No alterations were found in the opsonised yeast phagocytic activity of granulocytes when compared with control values. The binding of erythrocyte-antibody particles was found also to be normal. A depressed chemotactic activity of PMN cells against zymosan activated serum was also shown. The cause of the decreased chemotaxis of PMNs remains to be elucidated. PMID:3592786

  9. Multiple sclerosis in India: An overview

    PubMed Central

    Singhal, Bhim S.; Advani, Hemali

    2015-01-01

    Multiple sclerosis (MS) is being increasingly diagnosed in India mainly due to increase in the number of practicing neurologists and easy and affordable availability of magnetic resonance imaging (MRI). The clinical features and course are largely similar to those seen in the West. The term optico-spinal MS (Asian MS) was coined in the pre-MRI days. Many such patients turn out to be cases of neuromyelitis optica — a distinct disorder and not a variant of MS. Others have shown the classical features of MS on MRI scan. Several of the disease-modifying agents, not all, are now available in India. Their use, however, has been limited in view of the high cost. PMID:26538844

  10. Amyotrophic lateral sclerosis and environmental factors

    PubMed Central

    Bozzoni, Virginia; Pansarasa, Orietta; Diamanti, Luca; Nosari, Guido; Cereda, Cristina; Ceroni, Mauro

    2016-01-01

    Summary Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that affects central and peripheral motor neuron cells. Its etiology is unknown, although a relationship between genetic background and environmental factors may play a major role in triggering the neurodegeneration. In this review, we analyze the role of environmental factors in ALS: heavy metals, electromagnetic fields and electric shocks, pesticides, β-N-methylamino-L-alanine, physical activity and the controversial role of sports. The literature on the single issues is analyzed in an attempt to clarify, as clearly as possible, whether each risk factor significantly contributes to the disease pathogenesis. After summarizing conflicting observations and data, the authors provide a final synthetic statement. PMID:27027889

  11. Rehabilitation of multiple sclerosis patients in India

    PubMed Central

    Surya, Nirmal

    2015-01-01

    Multiple sclerosis (MS) is a chronic progressive disease which is one of the leading causes of handicap in young subjects. The large range of symptoms associated with MS lead to continuing decline in neurologic status and quality of life. The coexistence of physical and cognitive impairments, together with the imprevisible evolution of the disease makes MS rehabilitation very challenging. The main objective of rehabilitation is, therefore, to ease the burden of symptoms by improving self-performance and independence. Inpatient, outpatient and Home rehabilitation with multidisciplinary team has been shown to be beneficial in improving disability. Individualized programs elaborated by a multidisciplinary team of experts are the key to success of rehabilitation. Family plays a big role and Family Based Rehabilitation will be important in long term rehab program in MS. PMID:26538848

  12. Gender issues in multiple sclerosis: an update.

    PubMed

    Jobin, Céline; Larochelle, Catherine; Parpal, Hélène; Coyle, Patricia K; Duquette, Pierre

    2010-11-01

    Although multiple sclerosis (MS) affects both women and men, women are more susceptible to MS than men. Accumulating evidence indicates that the incidence and prevalence of MS is increasing, more so in women than in men. Owing to pregnancy, differing hormonal states and distinct social roles, the impact of MS differs between women and men. Since Patricia K Coyle published a review on gender issues in MS, multiple studies have added to the body of knowledge. This update will summarize the current thinking on gender-related issues in MS and we will address incidence and prevalence, hormonal factors, pregnancy and breastfeeding, genetics, course and prognosis, imaging, treatment and psychosocial aspects. Future progression within this field will help elucidate the cause of and define the treatment of MS. PMID:21118039

  13. Hypothenar hammer syndrome followed by systemic sclerosis.

    PubMed

    Lambert, M; Hatron, P Y; Hachulla, E; Devulder, B

    2000-10-01

    We describe the first case of bilateral hypothenar hammer syndrome (HHS) followed by systemic sclerosis (SSc) that was associated with silica exposure (Erasmus syndrome). The patient was a woman smoothing tiles in an earthenware factory who presented with bilateral digital ischemia associated with Raynaud's phenomenon. HHS was diagnosed, based on an angiographic study showing aneurysm of the ulnar arteries and occlusions of multiple digital arteries. Pulmonary silicosis was also diagnosed on pulmonary tomodensitometry. Two years later digital swelling with acroosteolysis developed. The FANA test was positive (titer 1:640) and anticentromere antibody tests were also positive. Esophageal manometry showed dysmotility of the lower esophagus. These findings were consistent with a diagnosis of SSc. PMID:11036855

  14. [Multiple Sclerosis and Commensal Gut Flora].

    PubMed

    Yamamura, Takashi

    2016-06-01

    Although a symbiotic relationship between commensal gut microbiota and host is widely appreciated, recent works have indicated that normal gut flora functions to prevent inflammatory bowel diseases and obesity in the host, indicating a more mutualistic relationship. Dysbiosis of the commensal flora may lead to development of these disorders. Studies using experimental auto immune encephalomyelitis (EAE), a rodent model for studying multiple sclerosis (MS), revealed that onset of MS may be triggered by dysbiosis in the gut. We recently revealed a significant reduction in certain clostridia strains, which probably function to induce regulatory T cells, in the gut microbiota of patients with MS. Results from this study should be consideved when designing strategies for the prevention and treatment of MS. PMID:27279159

  15. Amyotrophic lateral sclerosis and environmental factors.

    PubMed

    Bozzoni, V; Pansarasa, Orietta; Diamanti, L; Nosari, G; Cereda, C; Ceroni, M

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that affects central and peripheral motor neuron cells. Its etiology is unknown, although a relationship between genetic background and environmental factors may play a major role in triggering the neurodegeneration. In this review, we analyze the role of environmental factors in ALS: heavy metals, electromagnetic fields and electric shocks, pesticides, β-N-methylamino-L-alanine, physical activity and the controversial role of sports. The literature on the single issues is analyzed in an attempt to clarify, as clearly as possible, whether each risk factor significantly contributes to the disease pathogenesis. After summarizing conflicting observations and data, the authors provide a final synthetic statement. PMID:27027889

  16. Complementary and alternative medicine in multiple sclerosis.

    PubMed

    Bowling, Allen C

    2010-10-01

    Complementary and alternative medicine (CAM) is used by one-half to three-fourths of patients with multiple sclerosis (MS). Despite this widespread use, CAM may not be discussed in the course of a conventional medical visit. When considered in the context of MS, CAM therapies have a wide range of risk-benefit profiles. Some CAM therapies, such as acupuncture, cranberry, vitamin D, tai chi, and yoga, are low risk and possibly beneficial. Other CAM therapies, such as immune-stimulating supplements, bee venom, and hyperbaric oxygen, are ineffective, dangerous, or unstudied. Providing access to information about the risks and benefits of CAM therapies may increase the quality of care that is provided to patients with MS. PMID:22810599

  17. [Cannabinoids for symptomatic therapy of multiple sclerosis].

    PubMed

    Husseini, L; Leussink, V I; Warnke, C; Hartung, H-P; Kieseier, B C

    2012-06-01

    Spasticity represents a common troublesome symptom in patients with multiple sclerosis (MS). Treatment of spasticity remains difficult, which has prompted some patients to self-medicate with and perceive benefits from cannabis. Advances in the understanding of cannabinoid biology support these anecdotal observations. Various clinical reports as well as randomized, double-blind, placebo-controlled studies have now demonstrated clinical efficacy of cannabinoids for the treatment of spasticity in MS patients. Sativex is a 1:1 mix of delta-9-tetrahydocannabinol and cannabidiol extracted from cloned Cannabis sativa chemovars, which recently received a label for treating MS-related spasticity in Germany. The present article reviews the current understanding of cannabinoid biology and the value of cannabinoids as a symptomatic treatment option in MS. PMID:22080198

  18. Amyotrophic lateral sclerosis associated with pregnancy.

    PubMed

    Tyagi, A; Sweeney, B J; Connolly, S

    2001-12-01

    Amyotrophic lateral sclerosis (ALS) is the most common, progressive motor neurone disease but is rare in the obstetric population. Only 4 cases have been described in the English literature since 1975. We describe a 29 year old woman who presented with ataxia, lower limb weakness and dysarthria 4 weeks after the birth of her first child. The symptoms had onset during the pregnancy but had not been considered remarkable. There were clinical features of upper and lower motor neurone involvement without any sensory loss. MRI of brain and spine was normal. CSF analysis was negative. EMG studies confirmed the presence of widespread anterior horn cell dysfunction compatible with ALS. The patient was commenced on Riluzole and has progressed clinically, at 12 months post diagnosis. PMID:11799421

  19. Angiosarcoma complicating systemic sclerosis: a case report.

    PubMed

    Fonder, Margaret A; Douglas, Deborah K

    2008-06-01

    Cutaneous angiosarcoma is a rare malignant vascular tumor with a poor prognosis, most commonly affecting elderly white men. Diagnosis usually is delayed because the tumor has a highly variable and often innocuous presentation. Cutaneous angiosarcoma has been associated with a number of conditions and factors, including chronic lymphedema, prior radiation therapy, exposure to chemicals, and vascular malformations. We report the case of a 40-year-old black man with systemic sclerosis (SSc) who developed a cutaneous angiosarcoma in an area of sclerodermatous scalp. We propose that vascular endothelial growth factor (VEGF) overexpression in sclerodermatous skin may predispose a patient to the development of vascular tumors, such as angiosarcoma. Because early diagnosis and treatment positively impact survival outcome in patients with angiosarcoma, it is essential that physicians recognize the association of angiosarcoma and SSc and maintain a low threshold for performing a biopsy when suspicious lesions are present on sclerodermatous skin. PMID:18666387

  20. Systemic sclerosis: An update in 2016.

    PubMed

    Desbois, Anne Claire; Cacoub, Patrice

    2016-05-01

    Systemic sclerosis (SSc) is a chronic immune disorder of unknown origin, dominated by excessive fibrosis responsible for cutaneous and pulmonary fibrosis, and by vascular endothelial dysfunction at the origin of skin ischemia, renal and pulmonary artery lesions. Renal and pulmonary complications are mainly responsible for the severity of the disease. Recent advances led to a better understanding of pathological mechanisms and a more accurate classification of patients according to clinical and biological (auto-antibodies) phenotype. Recent trials provided interesting data on different therapeutic strategies, depending on organ involvement. These data are of particular importance in such disease, still characterized by increased mortality and morbidity rates. In this review, we aim to synthetize recent advances in diagnosis and prognosis leading to better classification of SSc patients, and in therapeutic management. PMID:26802722

  1. Multiple sclerosis in men: management considerations.

    PubMed

    Bove, Riley; McHenry, Allison; Hellwig, Kerstin; Houtchens, Maria; Razaz, Neda; Smyth, Penelope; Tremlett, Helen; Sadovnick, A D; Rintell, D

    2016-07-01

    Multiple sclerosis (MS) is a lifelong disease typically affecting individuals in young to middle adulthood. There are recognized sex differences in MS onset and clinical course. MS affects approximately three times more women than men, thus resulting in less attention to the male experience (i.e. diagnosis, management, societal dimensions). Here, we review current scientific evidence on sex differences in MS risk and course, highlight potential sources of bias, and suggest avenues of further inquiry. We then describe what is known about male experiences with MS diagnosis, treatment, and symptom management (particularly mood and sexual function). Finally, we consider ways in which healthcare providers might engage male patients in the broader aspects of living with MS (e.g. familial and societal relationships) to influence their long-term quality of life (QOL). When possible, we draw from published sources to underscore our collective clinical and scientific experiences. PMID:26725085

  2. Defining the clinical course of multiple sclerosis

    PubMed Central

    Reingold, Stephen C.; Cohen, Jeffrey A.; Cutter, Gary R.; Sørensen, Per Soelberg; Thompson, Alan J.; Wolinsky, Jerry S.; Balcer, Laura J.; Banwell, Brenda; Barkhof, Frederik; Bebo, Bruce; Calabresi, Peter A.; Clanet, Michel; Comi, Giancarlo; Fox, Robert J.; Freedman, Mark S.; Goodman, Andrew D.; Inglese, Matilde; Kappos, Ludwig; Kieseier, Bernd C.; Lincoln, John A.; Lubetzki, Catherine; Miller, Aaron E.; Montalban, Xavier; O'Connor, Paul W.; Petkau, John; Pozzilli, Carlo; Rudick, Richard A.; Sormani, Maria Pia; Stüve, Olaf; Waubant, Emmanuelle; Polman, Chris H.

    2014-01-01

    Accurate clinical course descriptions (phenotypes) of multiple sclerosis (MS) are important for communication, prognostication, design and recruitment of clinical trials, and treatment decision-making. Standardized descriptions published in 1996 based on a survey of international MS experts provided purely clinical phenotypes based on data and consensus at that time, but imaging and biological correlates were lacking. Increased understanding of MS and its pathology, coupled with general concern that the original descriptors may not adequately reflect more recently identified clinical aspects of the disease, prompted a re-examination of MS disease phenotypes by the International Advisory Committee on Clinical Trials of MS. While imaging and biological markers that might provide objective criteria for separating clinical phenotypes are lacking, we propose refined descriptors that include consideration of disease activity (based on clinical relapse rate and imaging findings) and disease progression. Strategies for future research to better define phenotypes are also outlined. PMID:24871874

  3. Rehabilitation of multiple sclerosis patients in India.

    PubMed

    Surya, Nirmal

    2015-09-01

    Multiple sclerosis (MS) is a chronic progressive disease which is one of the leading causes of handicap in young subjects. The large range of symptoms associated with MS lead to continuing decline in neurologic status and quality of life. The coexistence of physical and cognitive impairments, together with the imprevisible evolution of the disease makes MS rehabilitation very challenging. The main objective of rehabilitation is, therefore, to ease the burden of symptoms by improving self-performance and independence. Inpatient, outpatient and Home rehabilitation with multidisciplinary team has been shown to be beneficial in improving disability. Individualized programs elaborated by a multidisciplinary team of experts are the key to success of rehabilitation. Family plays a big role and Family Based Rehabilitation will be important in long term rehab program in MS. PMID:26538848

  4. [Treatment of multiple sclerosis symptoms and exacerbations].

    PubMed

    Prieto González, José María

    2014-12-01

    In the last few years, there has been an explosion of new drugs acting on the clinical course of multiple sclerosis (MS) but less attention has been paid to better knowledge of the symptoms of this disease and their pathogenesis and treatment, which is essential to improve patients' quality of life. Because many patients have numerous concurrent symptoms during their clinical course, their management is complex and consequently it is important to know which symptoms are a direct result of the degenerative lesions of MS. The present article describes all the therapeutic options available for spasticity and its associated pain, paroxystic symptoms, fatigue, genitourinary disorders and sexual dysfunction, tremor, ataxia, gait disorder and cognitive impairment, with special emphasis on novel treatments. The article also defines exacerbations, how to recognize them and the available treatments, mainly oral administration of high-dose methylprednisolone and plasmapheresis. PMID:25732949

  5. Autoantibodies in Systemic Sclerosis: Unanswered Questions

    PubMed Central

    Kayser, Cristiane; Fritzler, Marvin J.

    2015-01-01

    Systemic sclerosis (SSc) is an autoimmune disease characterized by vascular abnormalities, and cutaneous and visceral fibrosis. Serum autoantibodies directed to multiple intracellular antigens are present in more than 95% of patients and are considered a hallmark of SSc. They are helpful biomarkers for the early diagnosis of SSc and are associated with distinctive clinical manifestations. With the advent of more sensitive, multiplexed immunoassays, new and old questions about the relevance of autoantibodies in SSc are emerging. In this review, we discuss the clinical relevance of autoantibodies in SSc emphasizing the more recently published data. Moreover, we will summarize recent advances regarding the stability of SSc autoantibodies over the course of disease, whether they are mutually exclusive and their potential roles in the disease pathogenesis. PMID:25926833

  6. Proton magnetic resonance spectroscopy in multiple sclerosis

    SciTech Connect

    Wolinsky, J.S.; Narayana, P.A.; Fenstermacher, M.J. )

    1990-11-01

    Regional in vivo proton magnetic resonance spectroscopy provides quantitative data on selected chemical constituents of brain. We imaged 16 volunteers with clinically definite multiple sclerosis on a 1.5 tesla magnetic resonance scanner to define plaque-containing volumes of interest, and obtained localized water-suppressed proton spectra using a stimulated echo sequence. Twenty-five of 40 plaque-containing regions provided spectra of adequate quality. Of these, 8 spectra from 6 subjects were consistent with the presence of cholesterol or fatty acids; the remainder were similar to those obtained from white matter of normal volunteers. This early experience with regional proton spectroscopy suggests that individual plaques are distinct. These differences likely reflect dynamic stages of the evolution of the demyelinative process not previously accessible to in vivo investigation.

  7. Multiple sclerosis in US minority populations

    PubMed Central

    Williams, Mitzi J.; Amezcua, Lilyana; Javed, Adil; Larsen, Kristin E.; Smrtka, Jennifer M.

    2015-01-01

    Summary The heterogeneity of multiple sclerosis (MS) characteristics among various ethnic minority populations is a topic of recent interest. However, these populations are consistently underrepresented in clinical trials, leading to limited data on the effectiveness of treatments in these groups of patients and lack of an evidence-based approach to treatment. In order to achieve optimal disease management in the ethnic minority MS populations, a better understanding of the regional, socioeconomic, and cultural influences that result in underrepresentation of these groups in clinical trials is needed. Furthermore, it would be beneficial to identify the genetic factors that influence disease disparity in these minority populations. Suggestions for the identification and implementation of best practices for fostering the trust of ethnic minority patients with MS and enhancing their participation in clinical trials are offered. PMID:26137421

  8. Neuroplasticity and functional recovery in multiple sclerosis

    PubMed Central

    Tomassini, Valentina; Matthews, Paul M.; Thompson, Alan J.; Fuglø, Daniel; Geurts, Jeroen J.; Johansen-Berg, Heidi; Jones, Derek K.; Rocca, Maria A.; Wise, Richard G.; Barkhof, Frederik; Palace, Jacqueline

    2013-01-01

    The development of therapeutic strategies that promote functional recovery is a major goal of multiple sclerosis (MS) research. Neuroscientific and methodological advances have improved our understanding of the brain’s recovery from damage, generating novel hypotheses for potential targets or modes of intervention and laying the foundation for the development of scientifically informed strategies promoting recovery in interventional studies. This Review aims to encourage the transition from characterization of recovery mechanisms to the development of strategies that promote recovery in MS. We discuss current evidence for functional reorganization that underlies recovery and its implications for development of new recovery-oriented strategies in MS. Promotion of functional recovery requires an improved understanding of recovery mechanisms modulated by interventions and the development of reliable measures of therapeutic effects. As imaging methods can be used to measure functional and structural alterations associated with recovery, this Review discusses their use as reliable markers to measure the effects of interventions. PMID:22986429

  9. Innovative Monoclonal Antibody Therapies in Multiple Sclerosis

    PubMed Central

    Kieseier, Bernd C.

    2008-01-01

    The recent years have witnessed great efforts in establishing new therapeutic options for multiple sclerosis (MS), especially for relapsing–remitting disease courses. In particular, the application of monoclonal antibodies provide innovative approaches allowing for blocking or depleting specific molecular targets, which are of interest in the pathogenesis of MS. While natalizumab received approval by the US Food and Drug Administration and the European Medicines Agency in 2006 as the first monoclonal antibody in MS therapy, rituximab, alemtuzumab, and daclizumab were successfully tested for relapsing-remitting MS in small cohorts in the meantime. Here, we review the data available from these recent phase II trials and at the same time critically discuss possible pitfalls which may be relevant for clinical practice. The results of these studies may not only broaden our therapeutic options in the near future, but also provide new insights into disease pathogenesis. PMID:21180564

  10. Promising treatments of tomorrow for multiple sclerosis

    PubMed Central

    Harrison, Daniel M.; Calabresi, Peter A.

    2009-01-01

    The therapeutic options for multiple sclerosis are rapidly expanding. What was once seen as a disease with little hope for treatment is now a target of rapid drug development. Current therapies have demonstrated efficacy in limiting the impact of the disease, but none is fully effective in all patients. However, promising new treatments are on the horizon. In this review we will discuss potential novel immunomodulating drugs that are in advanced stages of investigation; these drugs include monoclonal antibodies, chimeric molecules, and oral therapies. The use of hematopoietic stem cells will also be discussed and, in addition, we will look farther ahead at possible novel targets for the development of new immunomodulatory or neuroprotective pharmaceuticals. PMID:20182576

  11. Benefits of Exercise Training in Multiple Sclerosis.

    PubMed

    Motl, Robert W; Sandroff, Brian M

    2015-09-01

    Exercise training represents a behavioral approach for safely managing many of the functional, symptomatic, and quality of life consequences of multiple sclerosis (MS). This topical review paper summarizes evidence from literature reviews and meta-analyses, supplemented by recent individual studies, indicating that exercise training can yield small but important improvements in walking, balance, cognition, fatigue, depression, and quality of life in MS. The paper highlights limitations of research on exercise training and its consequences and future research directions and provides an overview for promotion of exercise training in MS based on recent prescriptive guidelines. Collectively, the evidence for the benefits of exercise training in MS suggests that the time is ripe for the promotion of exercise by healthcare providers, particularly neurologists as a central part of the clinical care and management of MS patients. PMID:26223831

  12. Astrocytes in the tempest of multiple sclerosis.

    PubMed

    Miljković, Djordje; Timotijević, Gordana; Mostarica Stojković, Marija

    2011-12-01

    Astrocytes are the most abundant cell population within the CNS of mammals. Their glial role is perfectly performed in the healthy CNS as they support functions of neurons. The omnipresence of astrocytes throughout the white and grey matter and their intimate relation with blood vessels of the CNS, as well as numerous immunity-related actions that these cells are capable of, imply that astrocytes should have a prominent role in neuroinflammatory disorders, such as multiple sclerosis (MS). The role of astrocytes in MS is rather ambiguous, as they have the capacity to both stimulate and restrain neuroinflammation and tissue destruction. In this paper we present some of the proved and the proposed functions of astrocytes in neuroinflammation and discuss the effect of MS therapeutics on astrocytes. PMID:21443873

  13. Assessing upper limb function in multiple sclerosis.

    PubMed

    Lamers, Ilse; Feys, Peter

    2014-06-01

    The need to fully assess upper limb function in multiple sclerosis (MS) has become increasingly clear with recent studies revealing a high prevalence of upper limb dysfunction in persons with MS leading to increased dependency and reduced quality of life. It is important that clinicians and researchers use tailored outcome measures to systematically describe upper limb (dys)function and evaluate potential deterioration or improvement on treatment. This topical review provides a comprehensive summary of currently used upper limb outcome measures in MS, classified according to the levels of the International Classification of Functioning (ICF). The clinical utility, strengths, weaknesses and psychometric properties of common upper limb outcome measures are discussed. Based on this information, recommendations for selecting appropriate upper limb outcome measures are given. The current shortcomings in assessment which need to be addressed are identified. PMID:24664300

  14. MicroRNA dysregulation in multiple sclerosis

    PubMed Central

    Jr, Omar de Faria; Moore, Craig S.; Kennedy, Timothy E.; Antel, Jack P.; Bar-Or, Amit; Dhaunchak, Ajit S.

    2013-01-01

    Multiple sclerosis (MS) is a chronic inflammatory disease characterized by central nervous system (CNS) demyelination and axonal degeneration. Although the cause of MS is still unknown, it is widely accepted that novel drug targets need to focus on both decreasing inflammation and promoting CNS repair. In MS and experimental autoimmune encephalomyelitis, non-coding small microRNAs (miRNAs) are dysregulated in the immune system and CNS. Since individual miRNAs are able to down-regulate multiple targeted mRNA transcripts, even minor changes in miRNA expression may lead to significant alterations in gene expression. Herein, we review miRNA signatures reported in CNS tissue and immune cells of MS patients and consider how altered miRNA expression may influence MS pathology. PMID:23346094

  15. A comprehensive review of amyotrophic lateral sclerosis

    PubMed Central

    Zarei, Sara; Carr, Karen; Reiley, Luz; Diaz, Kelvin; Guerra, Orleiquis; Altamirano, Pablo Fernandez; Pagani, Wilfredo; Lodin, Daud; Orozco, Gloria; Chinea, Angel

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5–10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease. PMID:26629397

  16. Deleterious versus protective autoimmunity in multiple sclerosis.

    PubMed

    Kostic, Milos; Stojanovic, Ivana; Marjanovic, Goran; Zivkovic, Nikola; Cvetanovic, Ana

    2015-08-01

    Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disorder of central nervous system, in which myelin specific CD4(+) T cells have a central role in orchestrating pathological events involved in disease pathogenesis. There is compelling evidence that Th1, Th9 and Th17 cells, separately or in cooperation, could mediate deleterious autoimmune response in MS. However, the phenotype differences between Th cell subpopulations initially employed in MS pathogenesis are mainly reflected in the different patterns of inflammation introduction, which results in the development of characteristic pathological features (blood-brain barrier disruption, demyelination and neurodegeneration), clinically presented with MS symptoms. Although, autoimmunity was traditionally seen as deleterious, some studies indicated that autoimmunity mediated by Th2 cells and T regulatory cells could be protective by nature. The concept of protective autoimmunity in MS pathogenesis is still poorly understood, but could be of great importance in better understanding of MS immunology and therefore, creating better therapeutic strategies. PMID:25944389

  17. Genetic and epigenetic abnormalities in systemic sclerosis.

    PubMed

    Makino, Takamitsu; Jinnin, Masatoshi

    2016-01-01

    Systemic sclerosis (SSc) is a complicated autoimmune and connective tissue disease, of which the pathogenesis and treatment have not been fully elucidated. SSc patients may have a genetic predisposition, such as specific human leukocyte antigens and single nucleotide polymorphisms, but can also develop various clinical symptoms with individual differences. Epigenetics, such as DNA methylation, histone modification, long non-coding RNA and miRNA, could explain the crossroad between genetics and environmental factors. For instance, epigenetics is associated with environmental factors, which may cause the breakdown of immune tolerance and the development of SSc in patients with a particular genetic background. In the future, further investigations of the interplay between genetics and epigenetics will be beneficial to elucidate the complex molecular cross-talk and heterogeneity in the SSc pathogenesis. Furthermore, this research will lead to the discovery of new therapeutic approaches and biomarkers. PMID:26782002

  18. Multiple sclerosis in India: An overview.

    PubMed

    Singhal, Bhim S; Advani, Hemali

    2015-09-01

    Multiple sclerosis (MS) is being increasingly diagnosed in India mainly due to increase in the number of practicing neurologists and easy and affordable availability of magnetic resonance imaging (MRI). The clinical features and course are largely similar to those seen in the West. The term optico-spinal MS (Asian MS) was coined in the pre-MRI days. Many such patients turn out to be cases of neuromyelitis optica - a distinct disorder and not a variant of MS. Others have shown the classical features of MS on MRI scan. Several of the disease-modifying agents, not all, are now available in India. Their use, however, has been limited in view of the high cost. PMID:26538844

  19. Multiple sclerosis: methodological aspects of cognitive testing.

    PubMed

    Stenager, E; Knudsen, L; Jensen, K

    1994-01-01

    In a cross-sectional study of 94 patients (42 males, 52 females) with definite multiple sclerosis (MS) in the age range 25-55 years, the correlation of neuropsychological tests with the ability to read TV-subtitles and with the use of sedatives is examined. A logistic regression analysis reveals a significant correlation between results of an attention and perceptual motor speed test i.e. Symbol Digit Modalities test and the ability to read TV-subtitles, but no correlation was found with another attention and perceptual motor speed test, or verbal or visual memory. No correlation between the use of sedatives and results on neuropsychological tests was found. Anxiety was not correlated with the ability to read TV-subtitles. It is concluded that visual deficits but not the use of sedatives may be a confounding factor in neuropsychological testing in MS. PMID:8140888

  20. Monoclonal antibodies in treatment of multiple sclerosis

    PubMed Central

    Rommer, P S; Dudesek, A; Stüve, O; Zettl, UK

    2014-01-01

    Monoclonal antibodies (mAbs) are used as therapeutics in a number of disciplines in medicine, such as oncology, rheumatology, gastroenterology, dermatology and transplant rejection prevention. Since the introduction and reintroduction of the anti-alpha4-integrin mAb natalizumab in 2004 and 2006, mAbs have gained relevance in the treatment of multiple sclerosis (MS). At present, numerous mAbs have been tested in clinical trials in relapsing–remitting MS, and in progressive forms of MS. One of the agents that might soon be approved for very active forms of relapsing–remitting MS is alemtuzumab, a humanized mAb against CD52. This review provides insights into clinical studies with the mAbs natalizumab, alemtuzumab, daclizumab, rituximab, ocrelizumab and ofatumumab. PMID:24001305

  1. Mitochondrial dysfunction and neurodegeneration in multiple sclerosis

    PubMed Central

    Su, Kimmy; Bourdette, Dennis; Forte, Michael

    2013-01-01

    Multiple sclerosis (MS) has traditionally been considered an autoimmune inflammatory disorder leading to demyelination and clinical debilitation as evidenced by our current standard anti-inflammatory and immunosuppressive treatment regimens. While these approaches do control the frequency of clinical relapses, they do not prevent the progressive functional decline that plagues many people with MS. Many avenues of research indicate that a neurodegenerative process may also play a significant role in MS from the early stages of disease, and one of the current hypotheses identifies mitochondrial dysfunction as a key contributing mechanism. We have hypothesized that pathological permeability transition pore (PTP) opening mediated by reactive oxygen species (ROS) and calcium dysregulation is central to mitochondrial dysfunction and neurodegeneration in MS. This focused review highlights recent evidence supporting this hypothesis, with particular emphasis on our in vitro and in vivo work with the mitochondria-targeted redox enzyme p66ShcA. PMID:23898299

  2. Toward precision medicine in amyotrophic lateral sclerosis

    PubMed Central

    Liu, Chang-Yun; Che, Chun-Hui

    2016-01-01

    Precision medicine is an innovative approach that uses emerging biomedical technologies to deliver optimally targeted and timed interventions, customized to the molecular drivers of an individual’s disease. This approach is only just beginning to be considered for treating amyotrophic lateral sclerosis (ALS). The clinical and biological complexities of ALS have hindered development of effective therapeutic strategies. In this review we consider applying the key elements of precision medicine to ALS: phenotypic classification, comprehensive risk assessment, presymptomatic period detection, potential molecular pathways, disease model development, biomarker discovery and molecularly tailored interventions. Together, these would embody a precision medicine approach, which may provide strategies for optimal targeting and timing of efforts to prevent, stop or slow progression of ALS. PMID:26889480

  3. Neurobehavioral burden of multiple sclerosis with nanotheranostics

    PubMed Central

    Sriramoju, Bhasker; Kanwar, Rupinder K; Kanwar, Jagat R

    2015-01-01

    Multiple sclerosis (MS) is a chronic demyelinating neurological disorder affecting people worldwide; women are affected more than men. MS results in serious neurological deficits along with behavioral compromise, the mechanisms of which still remain unclear. Behavioral disturbances such as depression, anxiety, cognitive impairment, psychosis, euphoria, sleep disturbances, and fatigue affect the quality of life in MS patients. Among these, depression and psychosis are more common than any other neurological disorders. In addition, depression is associated with other comorbidities. Although anxiety is often misdiagnosed in MS patients, it can induce suicidal ideation if it coexists with depression. An interrelation between sleep abnormalities and fatigue is also reported among MS patients. In addition, therapeutics for MS is always a challenge because of the presence of the blood–brain barrier, adding to the lack of detailed understanding of the disease pathology. In this review, we tried to summarize various behavioral pathologies and their association with MS, followed by its conventional treatment and nanotheranostics. PMID:26508863

  4. Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family.

    PubMed

    Holzmann, Carsten; Bauer, Ingrid; Meyer, Peter

    2013-10-01

    Multiple sclerosis is not known to be a risk factor for subsequent development of cancer. Recently, a multiple sclerosis locus was mapped adjacent to BRCA1 gene. We present a familial case affected by multiple sclerosis and cancer. We identified a c.5266dupC (5382insC) frameshift mutation in a 33-year-old woman with breast cancer, multiple malignant melanomas and multiple sclerosis. The patient's family history shows further cases of multiple sclerosis in BRCA1 mutation carriers. Therefore the presented family may carry a monogenic predisposition for multiple sclerosis nearby to BRCA1. PMID:23954390

  5. Clinical Usefulness of Aripiprazole and Lamotrigine in Schizoaffective Presentation of Tuberous Sclerosis

    PubMed Central

    Lee, Seung-Yup; Min, Jung-Ah; Lee, In Goo; Kim, Jung Jin

    2016-01-01

    Tuberous sclerosis is not as rare as once thought and has high psychiatric comorbidities. However, bipolar or psychotic features associated with tuberous sclerosis have been rarely reported. This report first presents a tuberous sclerosis patient, resembling a schizoaffective disorder of bipolar type. A patient with known tuberous sclerosis displayed mood fluctuation and psychotic features. Her symptoms did not remit along with several psychiatric medications. After hospitalization, the patient responded well with lamotrigine and aripiprazole without exacerbation. As demonstrated in this case, tuberous sclerosis may also encompass bipolar affective or psychotic features. We would like to point out the necessity to consider bipolarity in evaluating and treating tuberous sclerosis. PMID:27489387

  6. Clinical Usefulness of Aripiprazole and Lamotrigine in Schizoaffective Presentation of Tuberous Sclerosis.

    PubMed

    Lee, Seung-Yup; Min, Jung-Ah; Lee, In Goo; Kim, Jung Jin

    2016-08-31

    Tuberous sclerosis is not as rare as once thought and has high psychiatric comorbidities. However, bipolar or psychotic features associated with tuberous sclerosis have been rarely reported. This report first presents a tuberous sclerosis patient, resembling a schizoaffective disorder of bipolar type. A patient with known tuberous sclerosis displayed mood fluctuation and psychotic features. Her symptoms did not remit along with several psychiatric medications. After hospitalization, the patient responded well with lamotrigine and aripiprazole without exacerbation. As demonstrated in this case, tuberous sclerosis may also encompass bipolar affective or psychotic features. We would like to point out the necessity to consider bipolarity in evaluating and treating tuberous sclerosis. PMID:27489387

  7. Managing Neuropsychological Impairment in Multiple Sclerosis

    PubMed Central

    Lau, Stephanie; Penner, Iris; Heesen, Christoph; Moritz, Steffen

    2015-01-01

    Background: Multiple sclerosis (MS) is an inflammatory and neurodegenerative disease of the central nervous system of potential autoimmune origin that is frequently associated with psychological disorders and cognitive deficits, as well as with fatigue, stress, and psychosocial burden. These factors often cause decreased quality of life, social withdrawal, and unemployment. We describe the development of a cognitive-behavioral group intervention based on the concept of metacognition and evaluation of the feasibility and acceptance of the program as a rehabilitation tool. Methods: Metacognitive Training in MS (MaTiMS) consists of six modules, each 90 minutes in duration. We tested acceptance and design of the program in six focus groups (entire sample, n = 27). Framework analysis of transcripts was used to identify key topics and categories. Program modules were revised in accordance with appropriate recommendations of focus group members. We subsequently evaluated MaTiMS in two groups (n = 5, n = 6) in a rehabilitation center. Neuropsychological functioning as well as coping self-efficacy, depression, stress, perceived cognitive deficit, fatigue, and quality of life were assessed. Acceptance of MaTiMS from the patient perspective was also studied. Results: The modules were highly accepted by patients. Pre-post assessments showed significant improvements in the Coping Self Efficacy Scale (P = .007), the Würzburger Fatigue Inventory for MS Score (P = .028), and the Hamburg Quality of Life Questionnaire in Multiple Sclerosis Mood subscale (P = .046). Conclusions: These preliminary results suggest that MaTiMS represents a feasible psychological group training program that may foster improvements in self-efficacy, fatigue, and mood. The next step will be an evaluation of the program in a randomized controlled trial. PMID:26052258

  8. Malignancies after mitoxantrone for multiple sclerosis

    PubMed Central

    Seuffert, Linda; Mäder, Uwe; Toyka, Klaus V.

    2016-01-01

    Objective: To assess the therapy-related risk of malignancies in mitoxantrone-treated patients with multiple sclerosis. Methods: This retrospective observational cohort study included all mitoxantrone-treated patients with multiple sclerosis seen at our department between 1994 and 2007. We collected follow-up information on medically confirmed malignancies, life status, and cause of death, as of 2010. Malignancy rates were compared to the German national cancer registry matched for sex, age, and year of occurrence. Results: Follow-up was completed in 676 of 677 identified patients. Median follow-up time was 8.7 years (interquartile range 6.8–11.2), corresponding to 6,220 person-years. Median cumulative mitoxantrone dose was 79.0 mg/m2 (interquartile range 50.8–102.4). Thirty-seven patients (5.5%) were diagnosed with a malignancy after mitoxantrone initiation, revealing a standardized incidence ratio of 1.50 (95% confidence interval [CI] 1.05–2.08). Entities included breast cancer (n = 9), colorectal cancer (n = 7), acute myeloid leukemia (n = 4, 0.6%), and others (each entity n = 1 or 2). The standardized incidence ratio of colorectal cancer was 2.98 (95% CI 1.20–6.14) and of acute myeloid leukemia 10.44 (95% CI 3.39–24.36). It was not increased for other entities including breast cancer. Multivariate Cox regression identified higher age at treatment initiation but neither cumulative mitoxantrone dose (>75 vs ≤75 mg/m2) nor treatment with other immunosuppressive drugs or sex as a risk factor. Fifty-five patients had died, among them 12 of a malignancy and 43 reportedly of other causes. Conclusions: While the overall incidence of malignancies was only mildly increased, the risk of leukemia and colorectal cancer was heightened. If confirmed, posttherapy colonoscopy could become advisable. PMID:27170571

  9. Total lymphoid irradiation for multiple sclerosis

    SciTech Connect

    Devereux, C.K.; Vidaver, R.; Hafstein, M.P.; Zito, G.; Troiano, R.; Dowling, P.C.; Cook, S.D.

    1988-01-01

    Although chemical immunosuppression has been shown to benefit patients with chronic progressive multiple sclerosis (MS), it appears that chemotherapy has an appreciable oncogenic potential in patients with multiple sclerosis. Accordingly, we developed a modified total lymphoid irradiation (TLI) regimen designed to reduce toxicity and applied it to a randomized double blind trial of TLI or sham irradiation in MS. Standard TLI regimens were modified to reduce dose to 1,980 rad, lowering the superior mantle margin to midway between the thyroid cartilage and angle of the mandible (to avert xerostomia) and the lower margin of the mantle field to the inferior margin of L1 (to reduce gastrointestinal toxicity by dividing abdominal radiation between mantle and inverted Y), limiting spinal cord dose to 1,000 rad by custom-made spine blocks in the mantle and upper 2 cm of inverted Y fields, and also protecting the left kidney even if part of the spleen were shielded. Clinical efficacy was documented by the less frequent functional scale deterioration of 20 TLI treated patients with chronic progressive MS compared to to 20 sham-irradiated progressive MS patients after 12 months (16% versus 55%, p less than 0.03), 18 months (28% versus 63%, p less than 0.03), and 24 months (44% versus 74%, N.S.). Therapeutic benefit during 3 years follow-up was related to the reduction in lymphocyte count 3 months post-irradiation (p less than 0.02). Toxicity was generally mild and transient, with no instance of xerostomia, pericarditis, herpes zoster, or need to terminate treatment in TLI patients. However, menopause was induced in 2 patients and staphylococcal pneumonia in one.

  10. Leg Spasticity and Ambulation in Multiple Sclerosis

    PubMed Central

    Balantrapu, Swathi; Sosnoff, Jacob J.; Pula, John H.; Sandroff, Brian M.; Motl, Robert W.

    2014-01-01

    Background. Spasticity of the legs is common in multiple sclerosis (MS), but there has been limited research examining its association with ambulatory outcomes. Objective. This study examined spasticity of the legs and its association with multiple measures of ambulation in persons with MS. Methods. The sample included 84 patients with MS. Spasticity of the legs was measured using a 5-point rating scale ranging between 0 (normal) and 4 (contracted). Patients completed the 6-minute walk (6 MW), timed 25 foot walk (T25FW), and timed up-and-go (TUG), and O2 cost of walking was measured during the 6 MW. The patients undertook two walking trials on a GAITRite (CIR systems, Inc.) for measuring spatial and temporal parameters of gait. The patients completed the Multiple Sclerosis Walking Scale-12 (MSWS-12) and wore an accelerometer over a seven-day period. Results. 52% (n = 44) of the sample presented with spasticity of the legs. Those with leg spasticity had significantly worse ambulation as measured by 6 MW (P = 0.0001, d = −0.86), T25FW (P = 0.003, d = 0.72), TUG (P = 0.001, d = 0.84), MSWS-12 (P = 0.0001, d = 1.09), O2 cost of walking (P = 0.001, d = 0.75), average steps/day (P < 0.05, d = −0.45), and walking velocity (P < 0.05, d = −0.53) and cadence (P < 0.05, d = −0.46). Conclusion. Leg spasticity was associated with impairments in ambulation, including alterations in spatiotemporal parameters and free-living walking. PMID:24999434