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Sample records for autoimmune myasthenia gravis

  1. Autoimmune myasthenia gravis.

    Science.gov (United States)

    Jayawant, Sandeep; Parr, Jeremy; Vincent, Angela

    2013-01-01

    Myasthenia gravis in children can be generalized or ocular, and associated with antibodies to acetylcholine receptors or muscle-specific kinase, but it can be negative for those antibodies (seronegative). It needs to be distinguished from congenital myasthenic syndromes and other neuromuscular diseases. In the perinatal period, transient neonatal myasthenia and arthrogryposis multiplex congenita, due to maternal antibodies, need to be considered. Juvenile myasthenia is similar in presentation and treatment to that in adults. Here we present guidelines for recognition, diagnosis, and treatment. PMID:23622368

  2. Autoimmune myasthenia gravis, immunotherapy and thymectomy in children.

    Science.gov (United States)

    Ware, Tyson L; Ryan, Monique M; Kornberg, Andrew J

    2012-02-01

    Autoimmune myasthenia gravis is a rare condition in children. Identifying antibodies directed against the acetylcholine receptor is helpful in making the diagnosis. However, seronegative cases do exist and need to be distinguished from congenital forms of myasthenia. There is little published experience to inform the judicious management of autoimmune myasthenia gravis in children. In this article, we report our experience in the management of 12 cases of autoimmune myasthenia gravis in children in the modern era of medical immunotherapy and thymectomy. PMID:21911294

  3. Myasthenia gravis

    OpenAIRE

    Juel, Vern C; Massey, Janice M

    2007-01-01

    Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness ...

  4. Myasthenia gravis

    OpenAIRE

    Massey Janice M; Juel Vern C

    2007-01-01

    Abstract Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb ...

  5. Myasthenia gravis, a model of organ-specific autoimmune disease.

    Science.gov (United States)

    Berrih-Aknin, S

    1995-04-01

    Myasthenia gravis (MG) is a neuromuscular disorder of autoimmune origin. Most patients have antibodies directed against the acetylcholine receptor (AChR) that interfere with neuromuscular transmission. MG is a model of organ-specific autoimmune disease in which the autoantigen, AChR, is well characterized. However, several questions remain unanswered. Why is AChR, which is present in the thymus, not tolerized? Why does the anti-AChR antibody titre not correlate with clinical manifestations, and why do some patients not have such antibodies? What genetic elements are involved in disease susceptibility? How is the expression of AChR regulated after its attack by autoantibodies? Could MG patients benefit from new immunomodulatory treatments? At the IVth EuroMyasthenia meeting, held in Versailles in April 1994, almost 200 researchers and physicians met to discuss the pathophysiology and treatment of myasthenia gravis and to provide answers to some of these questions. The sessions covered immunological, genetic and clinical aspects of MG. PMID:7612144

  6. Curcumin ameliorates experimental autoimmune myasthenia gravis by diverse immune cells.

    Science.gov (United States)

    Wang, Shan; Li, Heng; Zhang, Min; Yue, Long-Tao; Wang, Cong-Cong; Zhang, Peng; Liu, Ying; Duan, Rui-Sheng

    2016-07-28

    Curcumin is a traditional Asian medicine with diverse immunomodulatory properties used therapeutically in the treatment of many autoimmune diseases. However, the effects of curcumin on myasthenia gravis (MG) remain undefined. Here we investigated the effects and potential mechanisms of curcumin in experimental autoimmune myasthenia gravis (EAMG). Our results demonstrated that curcumin ameliorated the clinical scores of EAMG, suppressed the expression of T cell co-stimulatory molecules (CD80 and CD86) and MHC class II, down-regulated the levels of pro-inflammatory cytokines (IL-17, IFN-γ and TNF-α) and up-regulated the levels of the anti-inflammatory cytokine IL-10, shifted the balance from Th1/Th17 toward Th2/Treg, and increased the numbers of NKR-P1(+) cells (natural killer cell receptor protein 1 positive cells, including NK and NKT cells). Moreover, the administration of curcumin promoted the differentiation of B cells into a subset of B10 cells, increased the anti-R97-166 peptide IgG1 levels and decreased the relative affinity indexes of anti-R97-116 peptide IgG. In summary, curcumin effectively ameliorate EAMG, indicating that curcumin may be a potential candidate therapeutic agent for MG. PMID:27181511

  7. Autoimmune myasthenia gravis and dysautonomia in a dog.

    Science.gov (United States)

    Gajanayake, I; Niessen, S J M; Cherubini, G B; Shelton, G D

    2008-11-01

    A two-year-old male entire border collie dog was evaluated for a short history of mixed bowel diarrhoea, coughing, vomiting and stranguria. Physical examination revealed dyspnoea with increased ventral lung sounds and a flaccidly distended bladder. Neurological examination revealed poor pupillary light reflexes, an absent gag reflex and a poor anal tone. Thoracic radiography was consistent with megaoesophagus and aspiration pneumonia. Clinicopathological testing revealed an elevated muscular nicotinic acetylcholine receptor antibody titre. The dog was euthanased because of clinical deterioration. Cerebrospinal fluid (CSF) collected immediately post-mortem revealed macrophagic pleocytosis. Post-mortem histopathological examination was consistent with dysautonomia. This is the first report of coexisting autoimmune myasthenia gravis and dysautonomia in a non-human species. The concomitant diseases may suggest a common immunopathological aetiology. PMID:18684149

  8. Myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Massey Janice M

    2007-11-01

    Full Text Available Abstract Myasthenia gravis (MG is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness within three years of initial symptom onset. MG results from antibody-mediated, T cell-dependent immunologic attack on the endplate region of the postsynaptic membrane. In patients with fatigable muscle weakness, the diagnosis of MG is supported by: 1. pharmacologic testing with edrophonium chloride that elicits unequivocal improvement in strength; 2. electrophysiologic testing with repetitive nerve stimulation (RNS studies and/or single-fiber electromyography (SFEMG that demonstrates a primary postsynaptic neuromuscular junctional disorder; and 3. serologic demonstration of acetylcholine receptor (AChR or muscle-specific tyrosine kinase (MuSK antibodies. Differential diagnosis includes congenital myasthenic syndromes, Lambert Eaton syndrome, botulism, organophosphate intoxication, mitochondrial disorders involving progressive external ophthalmoplegia, acute inflammatory demyelinating polyradiculoneuropathy (AIDP, motor neuron disease, and brainstem ischemia. Treatment must be individualized, and may include symptomatic treatment with cholinesterase inhibitors and immune modulation with corticosteroids, azathioprine, cyclosporine, and mycophenolate mofetil. Rapid, temporary improvement may be achieved for myasthenic crises and exacerbations with plasma exchange (PEX or intravenous immunoglobulin (IVIg. Owing to improved diagnostic testing, immunotherapy, and intensive care, the contemporary prognosis is favorable with less than five percent mortality

  9. Effectiveness of Qiangjijianli capsule on experimental autoimmune myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    Shunmin Li; Bo Fu; Yuyan Li; DongYang; Shudong Yang

    2006-01-01

    BACKGROUND: Experimental autoimmune myasthenia gravis(EAMG) and anti-AchR antibody of human myasthenia gravis are the same immune globulin.This antibody restricts the activity of nicotinic acetylcholine receptor and the amount of receptor binding sites is decreased,so myasthenia gravis occurs.OBJECTIVE: To observe the therapeutic effect and mechanism of action of Qiangjijianli capsule on EAMG rats.DESIGN:A randomized controlled animal experiment.SETTING: Experimental Animal Center of Guangzhou University of Traditional Chinese Medicine.MATERIALS: Acetylcholine receptors(AchR)were extracted from electric skate's electric organ which lives in the sea near Guangzhou.It had high biological activity and the protein content was 1.63 g/L.Qiangjijianli capsule (Astragalus mongholicus,Codonopsis pilosula,Atractylodes macrocephala,Angelica sinensis,Bupleurum chinense,Cairo morningglory root or leaf,Glycyrrhixa uralensis,etc.0.5 g crude drug per capsule) was bought from the Manufacturing Laboratory of Guangzhou University of Traditional Chinese Medicine with the Batch No.89-11-1.METHODS:This experiment was carried out in the Experimental Animal Center of Guangzhou University of Traditional Chinese Medicine from May to August 1990.①Adult female SD rats were immunized with AchR.The animals' movement condition was observed and recorded everyday. Ten rats were chosen as normal control group.and they were not given any treatment and raised normally.After modeled,20 successful rats were randomly assigned into 2 groups:treatmental group and model group. 2 mL Qiangjijianli capsule suspension(1 g)was intragastrically administrated into each rat of treatmental group for 30 days; The same amount of clean water was intragastrically administrated into the rats of model group for 30 days.(2)Serum AchR antibody was measured with ABC-ELISA method. After administration,the rats were sacrificed.The complete diaphragmatic muscle was extracted for in vitro receptor binding test

  10. Ocular myasthenia gravis coincident with thyroid ophthalmopathy

    Directory of Open Access Journals (Sweden)

    Yaman A

    2003-01-01

    Full Text Available Graves' disease and myasthenia gravis are both auto-immune diseases and the coexistence of these two diseases is well recognized. Myasthenia gravis is more frequent in patients with thyroid disease. Here we present a case of thyroid ophthalmopathy and ocular myasthenia.

  11. The Effect of CD3-Specific Monoclonal Antibody on Treating Experimental Autoimmune Myasthenia Gravis

    Institute of Scientific and Technical Information of China (English)

    Ruonan Xu; Jianan Wang; Guojiang Chen; Gencheng Han; Renxi Wang; Beffen Shen; Yan Li

    2005-01-01

    CD3-specific monoclonal antibody was the first one used for clinical practice in field of transplantation. Recently,renewed interests have elicited in its capacity to prevent autoimmune diabetes by inducing immune tolerance. In this study, we tested whether this antibody can also be used to treat another kind of autoimmune disease myasthenia gravis (MG) and explored the possible mechanisms. MG is caused by an autoimmune damage mediated by antibody- and complement-mediated destruction of AChR at the neuromuscular junction. We found that administration of CD3-specific antibody (Fab)2 to an animal model with experimental autoimmune myasthenia gravis (EAMG) (B6 mice received 3 times of AChR/CFA immunization) could not significantly improve the clinical signs and clinical score. When the possible mechanisms were tested, we found that CD3 antibody treatment slightly down-regulated the T-cell response to AChR, modestly up-regulation the muscle strength. And no significant difference in the titers of IgG2b was found between CD3 antibody treated and control groups. These data indicated that CD3-specific antibody was not suitable for treating MG, an antibody- and complementmediated autoimmune disease, after this disease has been established. The role of CD3-specific antibody in treating this kind of disease remains to be determined.

  12. The role of antibodies in myasthenia gravis.

    Science.gov (United States)

    De Baets, M; Stassen, M H W

    2002-10-15

    Myasthenia gravis is an autoimmune disease associated with antibodies directed to the postsynaptic acetylcholine receptor. These antibodies reduce the number of receptors. Autoantibodies against AChR and other muscle antigens can be used for the diagnosis of myasthenia gravis and related disorders. The origin and the role of these antibodies in the disease are discussed. Experimental autoimmune myasthenia gravis, an experimental model closely mimicking the disease, has provided answers to many questions about the role of antibodies, complement macrophages and AChR anchor proteins. Genetically modified anti-AChR antibodies may also be used in the future to treat myasthenia. PMID:12220686

  13. Congenital myasthenia gravis.

    Science.gov (United States)

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  14. Nutrition and Myasthenia Gravis

    Science.gov (United States)

    Good nutrition is important for everyone. This is especially true when you have a chronic disorder like myasthenia gravis ( ... difficulty with chewing and swallowing may interfere with nutrition and create safety issues. Diet modifications may be ...

  15. Employees with Myasthenia Gravis

    Science.gov (United States)

    ... Disabilities Publications Resources Home | Accommodation and Compliance Series: Employees with Myasthenia Gravis By Linda Carter Batiste, J. ... visit http://AskJAN.org/corner/vol05iss04.htm . Accommodating Employees with MG Note: People with MG may develop ...

  16. Presumed Isotretinoin-Induced, Concomitant Autoimmune Thyroid Disease and Ocular Myasthenia Gravis: A Case Report

    Directory of Open Access Journals (Sweden)

    Huseyin Gursoy

    2012-11-01

    Full Text Available Introduction: There are many adverse effects that have been described for isotretinoin. To the best of our knowledge, this is the first report of a possible association of oral isotretinoin intake with autoimmune thyroiditis and ocular myasthenia gravis (OMG. Case Presentation: A 19-year-old Caucasian male, who had used oral isotretinoin for severe acne disease for the previous six months, was referred to our clinic. He had a three-week history of diplopia and variable bilateral ptosis. Physical examination showed moderate periorbital edema and limitations of up- and down-gaze in the left eye. Laboratory findings and thyroid ultrasound were consistent with autoimmune thyroiditis. Antithyroid therapy did not relieve the clinical symptoms. Concomitant OMG was suspected. Variable ptosis and a positive response to oral prednisolone of 40 mg/day and pyridostigmine of 360 mg/day supported the diagnosis of concomitant autoimmune thyroiditis and OMG. Conclusion: Autoimmune disorders may be triggered by oral isotretinoin treatment. Clinicians prescribing isotretinoin should be aware of the possible association between isotretinoin intake and concomitant autoimmune thyroiditis and OMG.

  17. Juvenile Myasthenia Gravis: A Paediatric Perspective

    OpenAIRE

    Finnis, Maria F.; Sandeep Jayawant

    2011-01-01

    Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against the postsynaptic membrane of the neuromuscular junction, resulting in muscle weakness and fatigability. Juvenile myasthenia gravis (JMG) is a rare condition of childhood and has many clinical features that are distinct from adult MG. Prepubertal children in particular have a higher prevalence of isolated ocular symptoms, lower frequency of acetylcholine receptor antibodies, and a higher probability of ach...

  18. Masticatory performance in patients with myasthenia gravis

    NARCIS (Netherlands)

    Weijnen, FG; Kuks, JBM; van der Glas, HW; Oudenaarde, [No Value; Bosman, F

    2002-01-01

    Masticatory muscle electromyograms (EMGs) were recorded while patients with bulbar myasthenia gravis chewed artificial food and compared with those of patients with ocular myasthenia gravis, patients in clinical remission who had previously suffered from bulbar myasthenia gravis and healthy individu

  19. “Warming yang and invigorating qi” acupuncture alters acetylcholine receptor expression in the neuromuscular junction of rats with experimental autoimmune myasthenia gravis

    Science.gov (United States)

    Huang, Hai-peng; Pan, Hong; Wang, Hong-feng

    2016-01-01

    Myasthenia gravis is an autoimmune disorder in which antibodies have been shown to form against the nicotinic acetylcholine nicotinic postsynaptic receptors located at the neuromuscular junction. “Warming yang and invigorating qi” acupuncture treatment has been shown to reduce serum inflammatory cytokine expression and increase transforming growth factor beta expression in rats with experimental autoimmune myasthenia gravis. However, few studies have addressed the effects of this type of acupuncture on the acetylcholine receptors at the neuromuscular junction. Here, we used confocal laser scanning microscopy to examine the area and density of immunoreactivity for an antibody to the nicotinic acetylcholine receptor at the neuromuscular junction in the phrenic nerve of rats with experimental autoimmune myasthenia gravis following “warming yang and invigorating qi” acupuncture therapy. Needles were inserted at acupressure points Shousanli (LI10), Zusanli (ST36), Pishu (BL20), and Shenshu (BL23) once daily for 7 consecutive days. The treatment was repeated after 1 day of rest. We found that area and the integrated optical density of the immunoreactivity for the acetylcholine receptor at the neuromuscular junction of the phrenic nerve was significantly increased following acupuncture treatment. This outcome of the acupuncture therapy was similar to that of the cholinesterase inhibitor pyridostigmine bromide. These findings suggest that “warming yang and invigorating qi” acupuncture treatment increases acetylcholine receptor expression at the neuromuscular junction in a rat model of autoimmune myasthenia gravis. PMID:27127487

  20. "Warming yang and invigorating qi" acupuncture alters acetylcholine receptor expression in the neuromuscular junction of rats with experimental autoimmune myasthenia gravis.

    Science.gov (United States)

    Huang, Hai-Peng; Pan, Hong; Wang, Hong-Feng

    2016-03-01

    Myasthenia gravis is an autoimmune disorder in which antibodies have been shown to form against the nicotinic acetylcholine nicotinic postsynaptic receptors located at the neuromuscular junction. "Warming yang and invigorating qi" acupuncture treatment has been shown to reduce serum inflammatory cytokine expression and increase transforming growth factor beta expression in rats with experimental autoimmune myasthenia gravis. However, few studies have addressed the effects of this type of acupuncture on the acetylcholine receptors at the neuromuscular junction. Here, we used confocal laser scanning microscopy to examine the area and density of immunoreactivity for an antibody to the nicotinic acetylcholine receptor at the neuromuscular junction in the phrenic nerve of rats with experimental autoimmune myasthenia gravis following "warming yang and invigorating qi" acupuncture therapy. Needles were inserted at acupressure points Shousanli (LI10), Zusanli (ST36), Pishu (BL20), and Shenshu (BL23) once daily for 7 consecutive days. The treatment was repeated after 1 day of rest. We found that area and the integrated optical density of the immunoreactivity for the acetylcholine receptor at the neuromuscular junction of the phrenic nerve was significantly increased following acupuncture treatment. This outcome of the acupuncture therapy was similar to that of the cholinesterase inhibitor pyridostigmine bromide. These findings suggest that "warming yang and invigorating qi" acupuncture treatment increases acetylcholine receptor expression at the neuromuscular junction in a rat model of autoimmune myasthenia gravis. PMID:27127487

  1. “Warmingyang and invigoratingqi” acupuncture alters acetylcholine receptor expression in the neuromuscular junction of rats with experimental autoimmune myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    Hai-peng Huang; Hong Pan; Hong-feng Wang

    2016-01-01

    Myasthenia gravis is an autoimmune disorder in which antibodies have been shown to form against the nicotinic acetylcholine nicotinic postsynaptic receptors located at the neuromuscular junction. “Warmingyang and invigoratingqi” acupuncture treatment has been shown to reduce serum inlfammatory cytokine expression and increase transforming growth factor beta expression in rats with experimental au-toimmune myasthenia gravis. However, few studies have addressed the effects of this type of acupuncture on the acetylcholine receptors at the neuromuscular junction. Here, we used confocal laser scanning microscopy to examine the area and density of immunoreactivity for an antibody to the nicotinic acetylcholine receptor at the neuromuscular junction in the phrenic nerve of rats with experimental autoimmune myasthenia gravis following “warmingyang and invigoratingqi” acupuncture therapy. Needles were inserted at acupressure pointsShou-sanli (LI10),Zusanli(ST36),Pishu (BL20), and Shenshu (BL23) once daily for 7 consecutive days. The treatment was repeated after 1 day of rest. We found that area and the integrated optical density of the immunoreactivity for the acetylcholine receptor at the neuromuscular junction of the phrenic nerve was signiifcantly increased following acupuncture treatment. This outcome of the acupuncture therapy was similar to that of the cholinesterase inhibitor pyridostigmine bromide. These ifndings suggest that “warmingyangand invigoratingqi” acu-puncture treatment increases acetylcholine receptor expression at the neuromuscular junction in a rat model of autoimmune myasthenia gravis.

  2. "Warming yang and invigorating qi" acupuncture alters acetylcholine receptor expression in the neuromuscular junction of rats with experimental autoimmune myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Hai-peng Huang

    2016-01-01

    Full Text Available Myasthenia gravis is an autoimmune disorder in which antibodies have been shown to form against the nicotinic acetylcholine nicotinic postsynaptic receptors located at the neuromuscular junction. "Warming yang and invigorating qi" acupuncture treatment has been shown to reduce serum inflammatory cytokine expression and increase transforming growth factor beta expression in rats with experimental autoimmune myasthenia gravis. However, few studies have addressed the effects of this type of acupuncture on the acetylcholine receptors at the neuromuscular junction. Here, we used confocal laser scanning microscopy to examine the area and density of immunoreactivity for an antibody to the nicotinic acetylcholine receptor at the neuromuscular junction in the phrenic nerve of rats with experimental autoimmune myasthenia gravis following "warming yang and invigorating qi" acupuncture therapy. Needles were inserted at acupressure points Shousanli (LI10, Zusanli (ST36, Pishu (BL20, and Shenshu (BL23 once daily for 7 consecutive days. The treatment was repeated after 1 day of rest. We found that area and the integrated optical density of the immunoreactivity for the acetylcholine receptor at the neuromuscular junction of the phrenic nerve was significantly increased following acupuncture treatment. This outcome of the acupuncture therapy was similar to that of the cholinesterase inhibitor pyridostigmine bromide. These findings suggest that "warming yang and invigorating qi" acupuncture treatment increases acetylcholine receptor expression at the neuromuscular junction in a rat model of autoimmune myasthenia gravis.

  3. Genetics Home Reference: myasthenia gravis

    Science.gov (United States)

    ... K. Recent advances in genetic predisposition of myasthenia gravis. Biomed Res Int. 2013;2013:404053. doi: 10.1155/2013/404053. Epub ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  4. Tongue force in patients with myasthenia gravis

    NARCIS (Netherlands)

    Weijnen, FG; Kuks, JBM; van der Glas, HW; Wassenberg, MWM; Bosman, F

    2000-01-01

    Objectives - The aim was to study tongue force in patients with bulbar myasthenia gravis and compare it with that of patients with ocular myasthenia gravis, patients in clinical remission who previously suffered from bulbar myasthenia gravis, and healthy subjects. Material and methods - Tongue force

  5. [Myasthenia gravis and myasthenic syndromes].

    Science.gov (United States)

    Marouf, W; Sieb, J P

    2009-08-01

    Neuromuscular transmission is compromised in a variety of disorders due to immunological, toxic or congenital mechanisms. Myasthenia gravis (MG) is the most frequent among these disorders. In about 15% of cases, MG is associated with a second autoimmune disorder mainly seen in rheumatologists. Some of the drugs used in rheumatology can exacerbate MG or even trigger immunologically the occurrence of MG. In most MG patients, antibodies to the acetylcholine receptor (AChR) are present, but around 10% have AChR antibodies that are only identified by novel methods, and up to 5% have muscle-specific kinase antibodies which define a different subgroup of myasthenia. Among those MG patients with anti-AChR antibodies, a number of clinical subtypes can be identified including early-onset MG (onset

  6. Juvenile myasthenia gravis: a paediatric perspective.

    Science.gov (United States)

    Finnis, Maria F; Jayawant, Sandeep

    2011-01-01

    Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against the postsynaptic membrane of the neuromuscular junction, resulting in muscle weakness and fatigability. Juvenile myasthenia gravis (JMG) is a rare condition of childhood and has many clinical features that are distinct from adult MG. Prepubertal children in particular have a higher prevalence of isolated ocular symptoms, lower frequency of acetylcholine receptor antibodies, and a higher probability of achieving remission. Diagnosis in young children can be complicated by the need to differentiate from congenital myasthenic syndromes, which do not have an autoimmune basis. Treatment commonly includes anticholinesterases, corticosteroids with or without steroid-sparing agents, and newer immune modulating agents. Plasma exchange and intravenous immunoglobulin (IVIG) are effective in preparation for surgery and in treatment of myasthenic crisis. Thymectomy increases remission rates. Diagnosis and management of children with JMG should take account of their developmental needs, natural history of the condition, and side-effect profiles of treatment options. PMID:22110902

  7. MYASTHENIA GRAVIS IN CHILDREN AND ADOLESCENTS

    OpenAIRE

    Akbar Soltanzadeh

    1994-01-01

    Myasthenia gravis (MG) is a disorder of the neuromuscular junction. In children, the disease may be congenital or due to an autoimmune process. Clinical manifestations may be purely ocular or may include generalized weakness, fatigability, dysphagia, and disorders of speech."nIn this article, 27 children (14 female, 13 male) were prospectively studied from birth to age fifteen. Disease presentation was ocular in all the cases, with ptosis and diplopia. In 6 patients (all female), the dis...

  8. MYASTHENIA GRAVIS IN IRANIAN CHILDREN

    OpenAIRE

    S. Inaloo MD; M. Ghofrani MD; H. Eftekharian MD

    2007-01-01

    ObjectiveThis study was undertaken to evaluate the clinical spectrum of myasthenia gravis in children and determine factors that help the clinician in his/her diagnosis and management.Materials & MethodsA retrospective review was performed on all pediatric patients suffering from myasthenia gravis (M.G) admitted in the department of pediatric neurology of the Mofid Hospital of the Shaheed Beheshti University, between 1994 and 2002.ResultsOf the thirty-two children with M.G. enrolled in our st...

  9. Treatment of myasthenia gravis: current practice and future directions.

    Science.gov (United States)

    Ciafaloni, Emma; Sanders, Donald B

    2002-09-01

    Myasthenia gravis is the best understood of the autoimmune diseases and a number of treatments are currently used to produce clinical improvement. However, due to the scarcity of evidence-based and comparative data, there is still no consensus on many therapeutic issues. Even a widely accepted treatment like thymectomy has never been proven effective by a well-designed trial. These are just some of the unanswered questions: What is the best treatment algorithm and safest long-term management of myasthenia gravis? What patients are likely to benefit from thymectomy? How long should myasthenia gravis patients be treated? Is it possible to discontinue immunotherapy once remission has been achieved? What are the risks associated with long-term immunosuppression? In this article, we review current therapeutic strategies and these unresolved questions about myasthenia gravis treatment. PMID:19810991

  10. 重症肌无力的治疗现状%Circumstance of the therapy of myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    于逢春; 余华锋

    2004-01-01

    Myasthenia gravis is a most common neurological disease with autoimmune disorder. Most of the research on myasthenia gravis has focused on treatment . we will assess the effect of the treatments of myasthenia gravis, which including corticosteroids, immunosuppressive , IV immunoglobulin , plasmapheresis and thymectomy. The treatment for patients with myasthenia gravis usually depends on age, clinical characteristics and thymoma or nonthymoma-related MG and so on.

  11. A Genetic Study on Myasthenia Gravis

    Institute of Scientific and Technical Information of China (English)

    Lu Chuan-Zhen; Zhou Zhigang; Wu Yongqin

    2000-01-01

    @@Myasthenia Gravis is considered as an autoimmune disease caused by circulating ant:bodies against acetylcholine receptor(AchR) at neuromuscular junctions. Although thousands of studies in the field of function of AchR, activation passway of immune response on MG, genetic control of o-subunit of AchR have been done in the world since 1970's, it is still unclear what is the initial factor of autoimmune response and what hind of genes control are in MG patients.

  12. Acquired generalised neuromyotonia, cutaneous lupus erythematosus and alopecia areata in a patient with myasthenia gravis.

    LENUS (Irish Health Repository)

    O'Sullivan, S S

    2012-02-03

    We describe a patient with the diagnoses of acquired neuromyotonia, cutaneous lupus erythematosus and alopecia areata, occurring many years after a thymectomy for myasthenia gravis associated with a thymoma. We review the current literature on autoimmune conditions associated with myasthenia gravis and thymectomy. To our knowledge, this combination of multiple autoimmune conditions has not been reported previously.

  13. The potential role of cell surface complement regulators and circulating CD4+ CD25+ T-cells in the development of autoimmune myasthenia gravis

    OpenAIRE

    Hamdoon, Mohamed Nasreldin Thabit; Fattouh, Mona; El-din, Asmaa Nasr; Elnady, Hassan M.

    2016-01-01

    Introduction CD4+CD25+ regulatory T-lymphocytes (T-regs) and regulators of complement activity (RCA) involving CD55 and CD59 play an important role in the prevention of autoimmune diseases. However, their role in the pathogenesis of human autoimmune myasthenia gravis (MG) remains unclear. This study aimed to determine the frequency of peripheral blood T-regs and CD4+ T-helper (T-helper) cells and the red blood cells (RBCs) level of expression of CD55 and CD59 in MG patients. Methods Fourteen ...

  14. Miastenia gravis juvenil Juvenile myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Oscar Papazian

    2009-01-01

    administración endovenosa de gamma globulina.Juvenile myasthenia gravis is a chronic autoimmune disorder which occurs when serum antibodies combine with nicotinic acetylcholine receptors at the muscle membrane of the motor endplate imparing the neuromuscular transmission. It results in early muscle fatigability with progression to a complete paralysis during repetitive muscle contraction (movements or steady muscle contraction (postures, and less common persistent paralysis at rest. The cranial nerves, mainly the one innervating the extraoccular and palpebral levator, are the most susceptible to permanent weakness and paralysis at rest. Initial clinical presentations are generalized, ocular and respiratory forms. The diagnosis is suspected through medical history of abnormal fatigability and corroborated by physical examination, repetitive nerve stimulation of an affected but not complete paralyzed muscle, correction of fatigability by the intravenous administration of acetylcholine esterase inhibitors, and by the presence of serum acetylcholine receptors antibodies (ACRA. The long term treatment is symptomatic (acetylcholine inhibitors and etiopathogenic (immunosupresor drugs, plasmapheresis, intravenous gamma globulin and thymectomy. Spontaneous or post symptomatic and etiopathogenic treatment remissions occur from 1 to 10 years. Fatality is rare but children are at high risk during myasthenia crisis.

  15. Juvenil Myastenia gravis.

    OpenAIRE

    Ansari, Kanwal Naz

    2013-01-01

    Abstract Background Myasthenia gravis is an autoimmune disease in adults. Myasthenia gravis in children and adolescents is uncommon and the disease can present as congenital myasthenic syndrome, transient myasthenia gravis or juvenile myasthenia gravis in this age group. Juvenile myasthenia gravis also have autoimmune pathogenesis as in adults. The purpose of this thesis is to study juvenile myasthenia gravis. Methods It has been done a retrospective chart review of patients with juvenile mya...

  16. MYASTHENIA GRAVIS IN CHILDREN AND ADOLESCENTS

    Directory of Open Access Journals (Sweden)

    Akbar Soltanzadeh

    1994-06-01

    Full Text Available Myasthenia gravis (MG is a disorder of the neuromuscular junction. In children, the disease may be congenital or due to an autoimmune process. Clinical manifestations may be purely ocular or may include generalized weakness, fatigability, dysphagia, and disorders of speech."nIn this article, 27 children (14 female, 13 male were prospectively studied from birth to age fifteen. Disease presentation was ocular in all the cases, with ptosis and diplopia. In 6 patients (all female, the disease was purely ocular, in the remaining 21, the disease was generalized. There was one case of transient neonatal myasthenia born to a myasthenic mother. Nine patients underwent thymectomy; all were reported as hyperplasia. Clinical consequences of the surgery were satisfactory. Five cases had hereditary myasthenia. In three brothers from one family, and a brother and sister from another family, disease presented from the neonatal period."nOverall, compared to adults, myasthenia seems to have a more favorable course in children. In the autoimmune form of the disease, thymectomy has a very good result. Thymoma was not observed in these cases. MG in the newborn of myasthenic mothers had a very good prognosis, and treatment is necessary in the first few weeks only in the presence of clinical manifestations. In the congenital form of the disease, there is no indication for administration of steroids, thymectomy, or plasmapheresis.

  17. Myasthenia gravis: A study from India

    OpenAIRE

    Singhal B; Bhatia Nisha; Umesh T; Menon Suresh

    2008-01-01

    Background: We present the findings from the largest hospital-based studies on myasthenia gravis from India, using data collected over a period of 43 years from the Neurology Department in a tertiary referral center in India. Objectives: To study the clinical presentation, age at onset, gender distribution, serological status and thymic pathology in patients with myasthenia gravis. Materials and Methods: A retrospective study was carried out using records of patients with myasthenia grav...

  18. Immune mechanism of thymomas in the development of myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Wei WANG

    2013-07-01

    Full Text Available Myasthenia gravis is an acquired autoimmune disorder which is cellular-immunity-dependent, humoral-immunity¬mediated and complement participated. It is still not clear which initial factor causes the immune response. The characteristic of myasthenia gravis is that many of the patients have an abnormality in their thymus. So it is speculated that the immune response is initiated in thymus. The thymus is the central organ of the immune system, playing the key role in T cell generation, diversification and maturation. T cells are positively selected for their recognition of antigens associated with MHC expressed in the thymus, and negatively selected according to their response to the self-antigens. The result of these selection is that the T cell use the MHC expressed on the other cells of the body for recognition of foreign antigens but do not react with self-antigens. Perhaps the most important role of thymus is the induction of immune self-tolerance that functions to prevent self-harm or autoimmunity. Thymomas are functional tumors originated from epithelial of the thymus, which have the capacity to induce T cell to differentiate and mature. What mechanism is Myasthenia gravis associated thymoma initiated by? This review will summarize the existing evidence of thymus, thymoma and myasthenia gravis and try to clarify the immune mechanism of initiation of myasthenia gravis associated thymomas.

  19. Juvenile Myasthenia Gravis: A Paediatric Perspective

    Directory of Open Access Journals (Sweden)

    Maria F. Finnis

    2011-01-01

    Full Text Available Myasthenia gravis (MG is an autoimmune disease in which antibodies are directed against the postsynaptic membrane of the neuromuscular junction, resulting in muscle weakness and fatigability. Juvenile myasthenia gravis (JMG is a rare condition of childhood and has many clinical features that are distinct from adult MG. Prepubertal children in particular have a higher prevalence of isolated ocular symptoms, lower frequency of acetylcholine receptor antibodies, and a higher probability of achieving remission. Diagnosis in young children can be complicated by the need to differentiate from congenital myasthenic syndromes, which do not have an autoimmune basis. Treatment commonly includes anticholinesterases, corticosteroids with or without steroid-sparing agents, and newer immune modulating agents. Plasma exchange and intravenous immunoglobulin (IVIG are effective in preparation for surgery and in treatment of myasthenic crisis. Thymectomy increases remission rates. Diagnosis and management of children with JMG should take account of their developmental needs, natural history of the condition, and side-effect profiles of treatment options.

  20. Myasthenia Gravis Medication Information Card (Drugs to be Avoided or Used with Caution in Myasthenia Gravis)

    Science.gov (United States)

    ... possibility whenever a new medication is prescribed. For questions regarding medications, contact ... “Medications and Myasthenia Gravis (A Reference for Health Care Professionals.” www.myasthenia. ...

  1. Psychiatric disorders in myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Mariana Inés Ybarra

    2011-04-01

    Full Text Available OBJECTIVE: To investigate the prevalence of psychiatric disorders in patients with myasthenia gravis (MG. METHOD: Forty-one patients with MG answered to a structured psychiatric interview (MINI-Plus. RESULTS: Eleven (26.1% patients were diagnosed with a depressive disorder and 19 (46.3% were diagnosed with an anxiety disorder. Patients with dysthymia were older (p=0.029 and had longer disease duration (p=0.006. Patients with social phobia also had longer disease duration (p=0.039. CONCLUSION: Psychiatric disorders in MG are common, especially depressive and anxiety disorders.

  2. MYASTHENIA GRAVIS IN IRANIAN CHILDREN

    Directory of Open Access Journals (Sweden)

    S. Inaloo MD

    2009-01-01

    Full Text Available ObjectiveThis study was undertaken to evaluate the clinical spectrum of myasthenia gravis in children and determine factors that help the clinician in his/her diagnosis and management.Materials & MethodsA retrospective review was performed on all pediatric patients suffering from myasthenia gravis (M.G admitted in the department of pediatric neurology of the Mofid Hospital of the Shaheed Beheshti University, between 1994 and 2002.ResultsOf the thirty-two children with M.G. enrolled in our study, seven were suffering from the congenital type while the remaining (25 cases had the juvenile M.G. Initial symptoms of congenital M.G were ptosis (7/7, limitation of eye movement (2/7 and mild generalized weakness (6/7. Although the Tensilon test was positive in 85% of congenital M.G cases, no myasthenia crisis or spontaneous remission was observed in any of them. In children with juvenile M.G, the age of presentation was 1.2 to 12.5 years, mean age 5.7+4.2 years (15 girls and 10 boys. The most common presenting symptoms in juvenile group were ptosis in 96% and generalized weakness in 76%. Eight of them (32% had had at least one myasthenia crisis. EMG was diagnostic in 83% and one case the tensilon test was positive in 84%. One patient had hyperthyroidism and had already been diagnosed with hypothyroidism; two of them were epileptics. Eight patients underwent thymectomy microscopically; in specimens examined, five (62% showed thymic follicular hyperplasia while in remaining three results were normal. One patient (12.5% recovered completely after thymectomy with no need for medication during the follow up. Four patients (50% showed relative  improvement and in three cases (37% improvement was negligible.ConclusionThe results showed a female to male ratio of 1.5/1 which was correlated to adult M.G. The most common presenting symptoms consisted of ophtalmoplegia, with bilateral ptosis being the most significant. Although this study revealed that thymectomy

  3. Adult celiac disease with acetylcholine receptor antibody positive myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    Hugh J Freeman; Helen R Gillett; Peter M Gillett; Joel Oger

    2009-01-01

    Celiac disease has been associated with some autoimmune disorders. A 40-year-old competitive strongman with celiac disease responded to a glutenfree diet, but developed profound and generalized motor weakness with acetylcholine receptor antibody positive myasthenia gravis, a disorder reported to occur in about 1 in 5000. This possible relationship between myasthenia gravis and celiac disease was further explored in serological studies. Frozen stored serum samples from 23 acetylcholine receptor antibody positive myasthenia gravis patients with no intestinal symptoms were used to screen for celiac disease. Both endomysial and tissue transglutaminase antibodies were examined. One of 23 (or, about 4.3%) was positive for both IgA-endomysial and IgA tissue transglutaminase antibodies. Endoscopic studies subsequently showed duodenal mucosal scalloping and biopsies confirmed the histopathological changes of celiac disease. Celiac disease and myasthenia gravis may occur together more often than is currently appreciated. The presence of motor weakness in celiac disease may be a clue to occult myasthenia gravis, even in the absence of intestinal symptoms.

  4. Unsuspected myasthenia gravis presenting as respiratory failure.

    OpenAIRE

    Mier, A; Laroche, C; Green, M

    1990-01-01

    A patient developed respiratory failure after surgical removal of a recurrent thymoma, which necessitated removal of part of the diaphragm. The respiratory failure was due to previously undiagnosed myasthenia gravis, which had selectively affected the respiratory muscles.

  5. Myasthenia gravis: A study from India

    Directory of Open Access Journals (Sweden)

    Singhal B

    2008-01-01

    Full Text Available Background: We present the findings from the largest hospital-based studies on myasthenia gravis from India, using data collected over a period of 43 years from the Neurology Department in a tertiary referral center in India. Objectives: To study the clinical presentation, age at onset, gender distribution, serological status and thymic pathology in patients with myasthenia gravis. Materials and Methods: A retrospective study was carried out using records of patients with myasthenia gravis from the years 1965 to 2008. Results: Of 841 patients, 836 (611 males and 225 females had acquired myasthenia (myasthenia gravis and five congenital myasthenia. The median age at onset was 48 years (males 53 years and females 34 years. The peak age at onset for males was in the sixth and seventh decade and in females, in the third decade. Two hundred and twenty-two (26.31% patients had ocular and 616 (73.68% generalized myasthenia. Serological studies were done in 281 patients with myasthenia gravis for Acetylcholine receptor (AchR antibodies of which 238 (84.70% were seropositive. The most common histopathology was thymoma and the second most common was thymic hyperplasia. Conclusion: Myasthenia gravis in our study was more common in males (M:F of 2.70:1. There was a single peak of age at onset (males sixth to seventh decade; females third decade. The higher prevalence of thymomas in this series is in all probability related to selection bias as patients with thymic enlargement or more severe disease underwent thymectomy. Thymoma was more common in males; hyperplasia in females.

  6. [Therapeutic strategies against myasthenia gravis].

    Science.gov (United States)

    Utsugisawa, Kimiaki; Nagane, Yuriko

    2013-05-01

    Many patients with myasthenia gravis (MG) still find it difficult to maintain daily activities due to chronic residual fatigability and long-term side effects of oral corticosteroids, since full remission is not common. Our analysis demonstrated that disease severity, oral corticosteroids, and depressive state are the major factors negatively associated with QOL, and that QOL of MM status patients taking CSR and is a target of treatment. In order to achieve early MM or better status with prednisolne strategy that can achieve early improvement by performing an aggressive therapy using combined treatment with plasmapheresis and high-dose intravenous methylprednisolone and then maintain an improved status using low-dose oral corticosteroids and calcineurin inhibitors. PMID:23777099

  7. Congenital myasthenic syndromes and transient myasthenia gravis.

    Science.gov (United States)

    Gajda, Anna; Szabó, Hajnalka; Gergev, Gyurgyinka; Karcagi, Veronika; Szabó, Nóra; Endreffy, Emoke; Túri, Sándor; Sztriha, László

    2013-05-30

    Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis. PMID:23909021

  8. Familial myasthenia gravis: report of four cases

    Directory of Open Access Journals (Sweden)

    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.

  9. Impaired regulatory B cells in myasthenia gravis.

    Science.gov (United States)

    Sheng, Jian Rong; Rezania, Kourosh; Soliven, Betty

    2016-08-15

    Regulatory B cells (Bregs) attenuate the severity of experimental autoimmune myasthenia gravis (EAMG) in an interleukin-10 (IL-10)-dependent manner. The goal of this study was to investigate the role of human Bregs in MG focusing on CD19(+)CD1d(hi) CD5(+) and CD19(+)CD24(hi)CD38(hi) subsets. We found that MG patients exhibited a decrease in the frequency of both Breg subsets and IL-10 producing B cells within each subset, which correlated with disease severity. In addition, there was impaired suppression of Th1 polarization in MG. These findings, taken together with EAMG data, indicate that Bregs play an important role in regulating the severity of MG. PMID:27397074

  10. CD1d(hi)CD5+ B cells expanded by GM-CSF in vivo suppress experimental autoimmune myasthenia gravis.

    Science.gov (United States)

    Sheng, Jian Rong; Quan, Songhua; Soliven, Betty

    2014-09-15

    IL-10-competent subset within CD1d(hi)CD5(+) B cells, also known as B10 cells, has been shown to regulate autoimmune diseases. Whether B10 cells can prevent or suppress the development of experimental autoimmune myasthenia gravis (EAMG) has not been studied. In this study, we investigated whether low-dose GM-CSF, which suppresses EAMG, can expand B10 cells in vivo, and whether adoptive transfer of CD1d(hi)CD5(+) B cells would prevent or suppress EAMG. We found that treatment of EAMG mice with low-dose GM-CSF increased the proportion of CD1d(hi)CD5(+) B cells and B10 cells. In vitro coculture studies revealed that CD1d(hi)CD5(+) B cells altered T cell cytokine profile but did not directly inhibit T cell proliferation. In contrast, CD1d(hi)CD5(+) B cells inhibited B cell proliferation and its autoantibody production in an IL-10-dependent manner. Adoptive transfer of CD1d(hi)CD5(+) B cells to mice could prevent disease, as well as suppress EAMG after disease onset. This was associated with downregulation of mature dendritic cell markers and expansion of regulatory T cells resulting in the suppression of acetylcholine receptor-specific T cell and B cell responses. Thus, our data have provided significant insight into the mechanisms underlying the tolerogenic effects of B10 cells in EAMG. These observations suggest that in vivo or in vitro expansion of CD1d(hi)CD5(+) B cells or B10 cells may represent an effective strategy in the treatment of human myasthenia gravis.

  11. Ice-on-Eyes Test in the Diagnosis of Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    Nazmul Haque

    2012-07-01

    Full Text Available Myasthenia gravis is the most frequent autoimmune neuromuscular transmission disorder with incidence of 2-20 patients per million. Its pathophysiology is autoimmune, with acetylcholine receptor auto antibodies damaging the post-synaptic fold at the muscle membrane. The diagnostic confirmation of myasthenia gravis is often challenging. Ice-oneyes test can be used to diagnose this disease for its simplicity, safety and cost-effectiveness. Here we report a case of myasthenia gravis in Enam Medical College Hospital, Savar, Dhaka where ice-on-eyes test was done with improvement of ptosis of the patient. Aim of this case report is to make aware our physicians to apply this simple bed side test instead of common traditional edrophonium (tensilon test test for confirmation of the diagnosis of ocular myasthenia gravis.

  12. Exosomes derived from atorvastatin-modified bone marrow dendritic cells ameliorate experimental autoimmune myasthenia gravis by up-regulated levels of IDO/Treg and partly dependent on FasL/Fas pathway

    OpenAIRE

    Li, Xiao-Li; Li, Heng; Zhang, Min; Xu, Hua; Yue, Long-Tao; Zhang, Xin-Xin; Wang, Shan; Wang, Cong-Cong; Li, Yan-Bin; Dou, Ying-Chun; Duan, Rui-Sheng

    2016-01-01

    Background Previously, we have demonstrated that spleen-derived dendritic cells (DCs) modified with atorvastatin suppressed immune responses of experimental autoimmune myasthenia gravis (EAMG). However, the effects of exosomes derived from atorvastatin-modified bone marrow DCs (BMDCs) (statin-Dex) on EAMG are still unknown. Methods Immunophenotypical characterization of exosomes from atorvastatin- and dimethylsulfoxide (DMSO)-modified BMDCs was performed by electron microscopy, flow cytometry...

  13. MYASTHENIA GRAVIS IN IRANIAN CHILDREN

    Directory of Open Access Journals (Sweden)

    S. Inaloo MD,

    2007-02-01

    Full Text Available ObjectiveThis study was undertaken to evaluate the clinical spectrum of myastheniagravis in children and determine factors that help the clinician in his/herdiagnosis and management.Materials & MethodsA retrospective review was performed on all pediatric patients suffering frommyasthenia gravis (M.G admitted in the department of pediatric neurologyof the Mofid Hospital of the Shaheed Beheshti University, between 1994 and2002.ResultsOf the thirty-two children with M.G. enrolled in our study, seven were sufferingfrom the congenital type while the remaining (25 cases had the juvenile M.G.Initial symptoms of congenital M.G were ptosis (7/7, limitation of eye movement(2/7 and mild generalized weakness (6/7. Although the Tensilon test waspositive in 85% of congenital M.G cases, no myasthenia crisis or spontaneousremission was observed in any of them. In children with juvenile M.G, the ageof presentation was 1.2 to 12.5 years, mean age 5.7+4.2 years (15 girls and10 boys. The most common presenting symptoms in juvenile group wereptosis in 96% and generalized weakness in 76%. Eight of them (32% had hadat least one myasthenia crisis. EMG was diagnostic in 83% and one case thetensilon test was positive in 84%. One patient had hyperthyroidism and hadalready been diagnosed with hypothyroidism; two of them were epileptics.Eight patients underwent thymectomy microscopically; in specimens examined,five (62% showed thymic follicular hyperplasia while in remaining three resultswere normal. One patient (12.5% recovered completely after thymectomywith no need for medication during the follow up. Four patients (50% showedrelative improvement and in three cases (37% improvement was negligible.ConclusionThe results showed a female to male ratio of 1.5/1 which was correlated toadult M.G. The most common presenting symptoms consisted of ophtalmoplegia,with bilateral ptosis being the most significant. Although this study revealedthat thymectomy lacks any remarkable

  14. Third caesarean section in patient with myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    A Pizzo; R De Dominici; I Borrielli; FV Ardita; I Lo Monaco; E Sturlese

    2012-01-01

    Myasthenia gravis(MG) is an autoimmune neuromuscular disease, characterised by muscle weakness and fatigability of the voluntary muscles, it affects young women in the second and third decade of life.We report a case of30 years old multigravida woman with myasthenia gravis submitted to third iterative caesarean section with no adverse neonatal and maternal outcome. The course myathenia is highly variable and unpredictable during gestation and can change in subsequent pregnancies.Delivery specially, through caesarean section is very stressful and may cause severe myasthenic crisis.Although pregnancy and delivery represent particular events, that require more attention in these patients, they are not associated, in most cases, with higher risks of complications compared to normal pregnancy, delivery and postpartum period.According our experiences, in the management of myasthenic pregnant woman is necessary cooperation in a multidisciplinary team between obstetricians, neurologist, anaesthetist, and neonatologist for ensure an optimum outcome.

  15. Myasthenia Gravis: a population-based epidemiological study.

    LENUS (Irish Health Repository)

    Rutledge, S

    2016-02-01

    Myasthenia Gravis (MG) is a disorder affecting components of the neuromuscular junction. Epidemiological studies show rising incidence and prevalence rates. The aim of this study was to determine the incidence and prevalence of MG in the Republic of Ireland. Data sources included patient lists from consultant neurologists and ophthalmologists, a neuroimmunology laboratory, general practitioners and the Myasthenia Gravis Association. A total of 1,715 cases were identified, of which 706 definite, probable or possible autoimmune and congenital MG cases were included. The overall prevalence rate from the data obtained is 15.38\\/100,000. The study demonstrated a female preponderance (female:male of 1.3: 1) and some geographical variation within Ireland. The average incidence rate for the years 2000 to 2009 was 11.3 per year; the rate for the current decade is 18 per year. The increasing number of diagnoses may be due to improved access to diagnostic investigations and increasing awareness of the clinical manifestations.

  16. Experimental autoimmune myasthenia gravis may occur in the context of a polarized Th1- or Th2-type immune response in rats

    DEFF Research Database (Denmark)

    Saoudi, A; Bernard, I; Hoedemaekers, A;

    1999-01-01

    Experimental autoimmune myasthenia gravis (EAMG) is a T cell-dependent, Ab-mediated autoimmune disease induced in rats by a single immunization with acetylcholine receptor (AChR). Although polarized Th1 responses have been shown to be crucial for the development of mouse EAMG, the role of Th cell...... subsets in rat EAMG is not well established. In the present work we show that while the incidence and severity of EAMG are similar in Lewis (LEW) and Brown-Norway (BN) rats, strong differences are revealed in the immune response generated. Ag-specific lymph node cells from LEW rats produced higher amounts...... of IL-2 and IFN-gamma than BN lymph node cells, but expressed less IL-4 mRNA. IgG1 and IgG2b anti-AChR isotype predominated in BN and LEW rats, respectively, confirming the dichotomy of the immune response observed between the two strains. Furthermore, although IL-12 administration or IFN...

  17. Myasthenia gravis treated with purified antithymocyte antiserum.

    Science.gov (United States)

    Pirofsky, B; Reid, R H; Bardana, E J; Baker, R L

    1979-01-01

    The therapeutic effect of goat anti-human thymocyte antiserum globulin (ATG) was assessed in 10 patients with myasthenia gravis. All subjects had far-advanced, debilitating disease poorly responsive to anticholinesterase therapy. Prolonged, low-dose ATG therapy was used, with 1.0 to 2.6 gm ATG protein administered intramuscularly over a 28- to 73-day period. Therapeutic responses of varying degrees were noted in 8 of 10 patients. Completion of a course of ATG treatment and discontinuation of the drug did not lead to acute relapse. Follow-up examinations for over 5 years have been maintained. A mean remission period of approximately 2 years was observed. This therapy deserves further evaluation; subjects with progressive myasthenia gravis despite prior thymectomy may represent ideal candidates. PMID:311448

  18. Prediction of aspiration in myasthenia gravis.

    Science.gov (United States)

    Koopman, Wilma J; Wiebe, Samuel; Colton-Hudson, Angela; Moosa, Tas; Smith, Dean; Bach, David; Nicolle, Michael W

    2004-02-01

    Prediction of the risk of dysphagia and aspiration is important in the management of myasthenia gravis (MG). We assessed the ability of four bedside clinical tools to predict aspiration in 20 MG patients. Patients completed a self-directed questionnaire, underwent clinical neurological assessment and a bedside speech pathology assessment, and were assessed with the quantitative myasthenia gravis (QMG) score. The ability of these tools to predict aspiration was compared with the results of a modified barium swallow. Seven patients aspirated, 4 silently. The total self-directed questionnaire score, two specific questions on the self-directed questionnaire, the prediction based on clinical neurological assessment, and the QMG bulbar subset score all correlated with aspiration. The speech pathology prediction was highly sensitive but less specific. This pilot study shows that simple clinical tools can predict which MG patients are at risk of aspiration. PMID:14755491

  19. A study of the utility of azathioprine metabolite testing in myasthenia gravis.

    Science.gov (United States)

    Rae, William; Burke, Georgina; Pinto, Ashwin

    2016-04-15

    Myasthenia gravis (MG) is an autoimmune neuromuscular disorder characterised by fatigable voluntary skeletal muscle weakness. The underlying pathogenesis is complex involving adaptive autoimmune responses. Azathioprine remains a first line broad acting immunosuppressant for MG. Due to varied clinical responses to azathioprine we aimed to investigate the relationship between azathioprine metabolites and symptom control. Mild correlations between Quantitative Myasthenia Gravis Score (QMG) vs. 6-thioguanine nucleotides (R=-0.317 p=0.186) and QMG vs. lymphocyte count (R=0.402 p=0.08) were found. Azathioprine metabolite measurement should be considered in MG patients with; pancytopenia, deranged liver function or recurrent infections. PMID:27049566

  20. Computer Aided Study of Mechanism of Immunoadsorbent for Myasthenia Gravis

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Myasthenia Gravis (MG) is an organ specific autoimmune disease mediated by autoantibodies (AChR Ab) against the acetylcholine receptor (AChR). Literature reported that the AChR Ab can be removed by absorbent linked with tryptophan. It was studied in detail in our lab. With the aid of computer, we docked some ligands into AChR Ab, and the results from scores of docking under different generations showed that there was no specific binding between tryptophan and scFv fragment just as the binding between antigen-antibody. The interaction between Trp and immunoglobulin was a broad-spectrum binding.

  1. Survivin as a potential mediator to support autoreactive cell survival in myasthenia gravis: a human and animal model study.

    Directory of Open Access Journals (Sweden)

    Linda L Kusner

    Full Text Available The mechanisms that underlie the development and maintenance of autoimmunity in myasthenia gravis are poorly understood. In this investigation, we evaluate the role of survivin, a member of the inhibitor of apoptosis protein family, in humans and in two animal models. We identified survivin expression in cells with B lymphocyte and plasma cells markers, and in the thymuses of patients with myasthenia gravis. A portion of survivin-expressing cells specifically bound a peptide derived from the alpha subunit of acetylcholine receptor indicating that they recognize the peptide. Thymuses of patients with myasthenia gravis had large numbers of survivin-positive cells with fewer cells in the thymuses of corticosteroid-treated patients. Application of a survivin vaccination strategy in mouse and rat models of myasthenia gravis demonstrated improved motor assessment, a reduction in acetylcholine receptor specific autoantibodies, and a retention of acetylcholine receptor at the neuromuscular junction, associated with marked reduction of survivin-expressing circulating CD20+ cells. These data strongly suggest that survivin expression in cells with lymphocyte and plasma cell markers occurs in patients with myasthenia gravis and in two animal models of myasthenia gravis. Survivin expression may be part of a mechanism that inhibits the apoptosis of autoreactive B cells in myasthenia gravis and other autoimmune disorders.

  2. Myasthenia gravis in pediatric and elderly patients

    Institute of Scientific and Technical Information of China (English)

    刘伟; 刘国津; 范志民; 盖学良

    2003-01-01

    Objective To determine whether the clinical and pathologic characteristics and prognoses of myasthenia gravis (MG) patients below 15 years differ from those patients over 50 years after thymectomy. Methods We reviewed the registry material of 30 pediatric and 32 elderly MG patients after thymectomy, including their age, sex, clinical classification, pathological types, and prognoses. The Chi-square test or Wilcoxon ' s rank-sum test was used to determine the statistical differences between the children and elderly groups.Results No significant difference was seen in sex distribution between the two groups (Chi-square test, P=0.625), but there were differences in clinical classification: more type Ⅰ was observed in the pediatric group than in the elderly group, but more type Ⅱor Ⅲ was seen in the elderly group (Wilcoxon ' s rank-sum test, P<0.001). As to pathological types, the pediatric group was also significantly different from the elderly group (Chi-square test, P<0.01). All of the patients (100%) in the pediatric group had thymus hyperplasia, but in the elderly group more than half (56.26%) were found to have thymoma (benign or malignant). The prognoses after thymectomy were better in the pediatric group than in the elderly group (Wilcoxon ' s rank-sum test, P<0.001). Conclusions Because the prognoses are generally better than those of the elderly patients, we should be careful when operating on pediatric patients of ocular type. The elderly patients tend to receive more aggressive treatment because of more severe generalized types often associated with thymoma and poor prognoses. Both pediatric and elderly patients are seldom associated with other autoimmune disease.

  3. Demyelinating disease in patients with myasthenia gravis Doenças desmielinizantes em pacientes com miastenia gravis

    OpenAIRE

    Denis Bernardi Bichuetti; Tatiane Martins de Barros; Enedina Maria Lobato de Oliveira; Marcelo Annes; Alberto Alain Gabbai

    2008-01-01

    Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating muscle weakness, caused by impaired neuromuscular transmission. Patients with MG can present other autoimmune diseases in association, commonly hypo or hyperthyroidism. The association of MG to demyelinating disease is rare and has been described before. We report on three Brazilian patients with MG that presented distinct demyelinating diseases, two monophasic and one recurrent neuromyelitis optica, several years af...

  4. Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes.

    OpenAIRE

    Engel, A G

    1980-01-01

    Overwhelming evidence now supports Simpson's concept, originally proposed in 1960, that acquired myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against the nicotine postsynaptic acetylcholine receptor (AChR).1 An autoimmune pathogenesis of acquired MG implies that those myasthenic syndromes which occur in a congenital and familial setting may have a different, non-autoimmune basis. This paper focuses on ultrastructural, immunoelectron microscopic and cytochem...

  5. Caudal epidural anesthesia for a 2-year old child with congenital myasthenia gravis.

    Science.gov (United States)

    Calişkan, Esra; Koçum, Aysu; Sener, Mesut; Bozdoğan, Nesrin; Ariboğan, Aniş

    2008-10-01

    Myasthenia gravis is an autoimmune disease with antibodies directed against the acetylcholine receptor at the neuromuscular junction. Anesthetists have a special interest in myasthenia gravis because of its interaction with various anesthetic agents. Unlike adult myasthenic patients; very little report has been written about the anesthetic management in children, other than in relation to thymectomy. Although the use of caudal anesthesia in pediatric patients is common, have not seen any report concerning its use in a myasthenic child. In this case report, we represented a 2 year-old boy was performed caudal anesthesia for orchiopexy operation. He had presented difficulty in breathing, generalized weakness and droopy eyes due to congenital myasthenia gravis. In the operating room, following the routine monitoring, the patient was sedated with intravenous 1mg midazolam and 10 mg ketamine. Then caudal block was performed. 17 minutes later from the local anesthetic injection; operation was started and lasted 45 minutes. The patient did not require intraoperative supplemental analgesia and postoperative course was uneventful. Specific attention should be paid to voluntary and respiratory muscle strength in myasthenia gravis patients. Caudal anesthesia allowed airway control of myasthenia gravis patients without endotracheal intubations and muscle relaxant. In conclusion, we think that caudal anesthetic technique may be considered as a safe and suitable for the myasthenic child and it may represent a valid alternative to general anesthesia for these patients. PMID:19117157

  6. 重症肌无力合并自身免疫病的临床研究%Associated autoimmune diseases in myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    管宇宙; 崔丽英

    2012-01-01

    目的 分析重症肌无力(MG)合并自身免疫病的种类、发病年龄和临床特点.方法 回顾性分析作者医院2008-01-2012-01住院的MG患者,包括合并自身免疫病的MG患者的临床资料、影像学及实验室检查资料及治疗记录.结果 共收集MG患者305例,合并自身免疫病1种或1种以上者28例(9.18%),其中男9例、女19例,性别构成与非合并免疫病者无统计学差异(P>0.05).自身免疫病在MG之前发病者12例,平均(69.6±35.3)个月;在MG发病之后者14例,平均(72.4±38.4)个月;与MG同时发现2例;(1)MG合并自身免疫病组的MG发病年龄为(33.9±9.4)岁,与非合并自身免疫病患者的MG发病年龄[(35.3±12.2)岁]无统计学差异(P>0.05).合并甲状腺功能亢进(甲亢)患者MG发病年龄(27.4±12.5)岁,较合并其他自身免疫病患者的MG发病年龄[(41.6±10.3)岁]和非合并自身免疫病患者(35.3±12.2岁)均低(均P<0.05).(2)合并的自身免疫病中属甲亢最多(13例),其次为类风湿性关节炎(5例)、桥本甲状腺炎(4例)、吉兰-巴雷综合征(3例).其中有3例合并2种自身免疫病,1例合并3种自身免疫病.(3)合并自身免疫病MG患者的Osserman分型:发病初期Ⅰ型13例,Ⅱa型3例,Ⅱb型10例,Ⅲ型2例;其中MG合并甲亢患者以Ⅰ型发病10例,超过合并其他自身免疫病MG患者(P<0.05).结论 MG可合并多种神经系统或全身自身免疫病,以甲亢最多见.合并甲亢的MG患者中MG发病年龄较轻,以跟肌型多见.自身免疫病可在MG发病前、后或同时期出现.%Objective To investigate the coincidence and clinical features of associated autoimmune diseases in patients with myasthenia gravis. Methods All case records had been collected from admitted MG patients including those with associated autoimmune diseases from 2008-01 to 2012-01, Their clinical data, imaging studies and laboratory examination results were retrospectively analyzed. Results Three hundred and five

  7. A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.

    Science.gov (United States)

    Kokunai, Yosuke; Goto, Keigo; Kubota, Tomoya; Fukuoka, Takaaki; Sakoda, Saburo; Ibi, Tohru; Doyu, Manabu; Mochizuki, Hideki; Sahashi, Ko; Takahashi, Masanori P

    2012-06-21

    Mutations of the voltage gated sodium channel gene (SCN4A) are responsible for non-dystrophic myotonia including hyperkalemic periodic paralysis, paramyotonia congenita, and sodium channel myotonia, as well as congenital myasthenic syndrome. In vitro functional analyses have demonstrated the non-dystrophic mutants to show a gain-of-function defect of the channel; a disruption of fast inactivation, an enhancement of activation, or both, while the myasthenic mutation presents a loss-of function defect. This report presents a case of non-dystrophic myotonia that is incidentally accompanied with acquired myasthenia. The patient presented a marked warm-up phenomenon of myotonia but the repeated short exercise test suggested mutations of the sodium channel. The genetic analysis identified a novel mutation, G1292D, of SCN4A. A functional study of the mutant channel revealed marked enhancement of activation and slight impairment of fast inactivation, which should induce muscle hyperexcitability. The effects of the alteration of channel function to the myasthenic symptoms were explored by using stimulation of repetitive depolarization pulses. A use-dependent channel inactivation was reduced in the mutant in comparison to normal channel, thus suggesting an opposing effect to myasthenia. PMID:22617007

  8. Myasthenia gravis and related disorders: Pathology and molecular pathogenesis.

    Science.gov (United States)

    Ha, James C; Richman, David P

    2015-04-01

    Disorders affecting the presynaptic, synaptic, and postsynaptic portions of the neuromuscular junction arise from various mechanisms in children and adults, including acquired autoimmune or toxic processes as well as genetic mutations. Disorders include autoimmune myasthenia gravis associated with acetylcholine receptor, muscle specific kinase or Lrp4 antibodies, Lambert-Eaton myasthenic syndrome, nerve terminal hyperexcitability syndromes, Guillain Barré syndrome, botulism, organophosphate poisoning and a number of congenital myasthenic syndromes. This review focuses on the various molecular and pathophysiological mechanisms of these disorders, characterization of which has been crucial to the development of treatment strategies specific for each pathogenic mechanism. In the future, further understanding of the underlying processes may lead to more effective and targeted therapies of these disorders. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis. PMID:25486268

  9. Myasthenia Gravis – a beginning with no end

    Directory of Open Access Journals (Sweden)

    Croitoru Cristina Georgiana

    2016-03-01

    Full Text Available Myasthenia gravis is one of the neurological diseases with a relatively recent history, full of mistakes, in which the British and German neurology schools have attempted to find answers when confronted with the unknown. The paper aims at making a historical account of the disease from its discovery in the 16th century, when the first case of myasthenia gravis was medically diagnosed, to the beginning of the 20th century, when the dawn of modern therapy started to show.

  10. Remission of Severe Myasthenia Gravis After Massive-Dose Vitamin D Treatment

    OpenAIRE

    Cadegiani, Flávio Adsuara

    2016-01-01

    Patient: Female, 49 Final Diagnosis: Myasthenia Gravis Symptoms: Muscle weakness • shortness of breath Medication: — Clinical Procedure: Vitamin D Specialty: Endocrinology and Metabolic Objective: Unusual or unexpected effect of treatment Background: Vitamin D has been shown to be related to autoimmune diseases, such as multiple sclerosis and psoriasis. Correlations have been reported between vitamin D levels and prevalence and severity of other autoimmune disorders, and also between vitamin ...

  11. Myasthenia gravis and pregnancy: clinical implications and neonatal outcome

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    Estanol Bruno

    2004-11-01

    Full Text Available Abstract Background The myasthenia gravis is twice as common in women as in men and frequently affects young women in the second and third decades of life, overlapping with the childbearing years. Generally, during pregnancy in one third of patients the disease exacerbates, whereas in two thirds it remains clinically unchanged. Complete remission can occur in some patients. Methods To describe the clinical course, delivery and neonatal outcome of 18 pregnant women with the diagnosis of myasthenia gravis. Retrospective chart review of pregnant patients with myasthenia gravis, followed at the National Institute of Perinatology in Mexico City over an 8-year period. Data was abstracted from the medical records on the clinical course during pregnancy, delivery and neonatal outcome. Results From January 1, 1996 to December 31, 2003 18 patients with myasthenia gravis were identified and included in the study. The mean ± SD maternal age was 27.4 ± 4.0 years. During pregnancy 2 women (11% had an improvement in the clinical symptoms of myasthenia gravis, 7 women (39% had clinical worsening of the condition of 9 other patients (50% remained clinically unchanged. Nine patients delivered vaginally, 8 delivered by cesarean section and 1 pregnancy ended in fetal loss. Seventeen infants were born at mean ± SD gestational age of 37.5 ± 3.0 weeks and a mean birth weight of 2710 ± 73 g. Only one infant presented with transient neonatal myasthenia gravis. No congenital anomalies were identified in any of the newborns. Conclusions The clinical course of myasthenia gravis during pregnancy is variable, with a significant proportion of patients experiencing worsening of the clinical symptoms. However, neonatal transient myasthenia was uncommon in our patient population.

  12. Idiopathic Pulmonary Fibrosis and Myasthenia Gravis: An Unusual Association.

    Science.gov (United States)

    Chogtu, Bharti; Malik, Daliparty Vasudev; Magazine, Rahul

    2016-04-01

    Idiopathic Pulmonary Fibrosis (IPF) is a chronic fibrosing lung condition with high morbidity and mortality, accounting for about 25% of the cases of interstitial lung diseases. It usually has a progressive course resulting in death due to respiratory failure. Myasthenia Gravis (MG) is an autoimmune neuromuscular disease, caused by antibody mediated activity against acetylcholine receptor at the neuromuscular junction. It is characterized by fluctuating muscle weakness and fatigue. Extensive literature search did not reveal any case report of an association between these two conditions. Here we present a case of a patient with IPF who also developed MG. The diagnosis of IPF was based on High Resolution Computed Tomography (HRCT) of the lung and that of MG was based on clinical criteria and electrophysiological testing. The case was successfully managed. PMID:27190866

  13. Neuromyelitis optica and myasthenia gravis in a young Nigerian girl.

    Science.gov (United States)

    Balarabe, Salisu Abdullahi; Adamu, Mohammad Dantani; Watila, Musa Mamman; Jiya, Nma

    2015-09-03

    Neuromyelitis optica (NMO) and myasthenia gravis (MG) are rare autoimmune disorders. The coexistence of the two disorders, although rare, has been documented. This is a case report of a 16-year-old student who presented with recurrent episodes of transverse myelitis and optic neuritis, 8 years after diagnosis of MG. She presented with visual impairment, relapsing and remitting weakness, numbness and paraesthesia of her lower limbs, with bladder and bowel incontinence. Her examination revealed bilateral optic atrophy, spastic paraparesis of the lower limbs and patchy sensory loss up to thoracic level (T4-5). She had a positive acetylcholine receptor antibody, a positive aquaporin-4 antibody and chest CT finding of thymic enlargement. We therefore confirmed the previous diagnosis of MG and performed a recent diagnosis of background NMO. A high index of suspicion is needed to make a diagnosis of this rare coexistence of NMO and MG in resource-limited settings such as Nigeria.

  14. Kikuchi-Fujimoto Disease Associated with Myasthenia Gravis: A Case Report

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    Olukayode Onasanya

    2010-01-01

    Full Text Available Kikuchi-Fujimoto disease is a self-limited benign condition of unknown etiology characterized by cervical lymphadenopathy, fever, and leucopenia. An autoimmune hypothesis has been suggested and an association with systemic lupus erythematosus, Sjogren's disease, and antiphospholipid syndrome has been noted. We report a 27-year-old male who presented for evaluation of weakness and he was diagnosed with seropositive generalized myasthenia gravis and underwent a thymectomy. He was stable until five months post-thymectomy, when he developed a high fever associated with nontender cervical lymphadenopathy, chills, and night sweats. Histopathology of a cervical lymph gland biopsy was compatible with Kikuchi-Fujimoto lymphadenitis. He improved spontaneously and was asymptomatic at the followup six months later. Our case expands the association of Kikuchi-Fujimoto disease with autoimmune disorders to include myasthenia gravis.

  15. Stimulated jitter with concentric needle in 42 myasthenia gravis patients

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    João Aris Kouyoumdjian

    2013-04-01

    Full Text Available Objective: To estimate jitter parameters in myasthenia gravis in stimulated frontalis and extensor digitorum muscles using the concentric needle electrode. Methods: Forty-two confirmed myasthenia gravis patients, being 22 males (aged 45.6±17.2 years-old were studied. Jitter was expressed as the mean consecutive difference (MCD. Results: MCD in extensor digitorum was 61.6 µs (abnormal in 85.7% and in frontalis 57.3 µs (abnormal in 88.1%. Outliers represented 90.5% for extensor digitorum and 88.1% for frontalis. At least one jitter parameter was abnormal in 90.5% of the combined studies. Acetylcholine receptor antibody was abnormal in 85.7% of the cases. Conclusions: Stimulated jitter recordings measured from muscles using concentric needle electrode can be used for myasthenia gravis diagnosis with high sensitivity. Extensive normative studies are still lacking and, therefore, borderline findings should be judged with great caution.

  16. [Course and treatment of myasthenia gravis during pregnancy].

    Science.gov (United States)

    Klehmet, J; Dudenhausen, J; Meisel, A

    2010-08-01

    Pregnancy and family planning issues are frequent concerns in the medical care of patients with myasthenia gravis since disease onset often coincides with the life period which is decisive in this respect. Although pregnancy, delivery and breastfeeding represent special circumstances in these patients, they are not associated with higher risks of complications compared to normal pregnancy, delivery and postpartum period. Frequently asked questions regard the course of pregnancy as well as the impact of the disease and particularly medical treatment on pregnancy and the foetus or neonate. Great significance is attached to the mode of delivery since it is still widely accepted that patients with myasthenia gravis have to deliver per elective caesarean section. This paper gives an overview and provides a basis for the medical care and individual counselling of patients with myasthenia gravis who want to start a family or are already pregnant. PMID:20411231

  17. Refractory myasthenia gravis – clinical profile, comorbidities and response to rituximab

    Science.gov (United States)

    Sudulagunta, Sreenivasa Rao; Sepehrar, Mona; Sodalagunta, Mahesh Babu; Settikere Nataraju, Aravinda; Bangalore Raja, Shiva Kumar; Sathyanarayana, Deepak; Gummadi, Siddharth; Burra, Hemanth Kumar

    2016-01-01

    Introduction: Myasthenia gravis (MG) is an antibody mediated autoimmune neuromuscular disorder characterized by fatigable muscle weakness. A proportion of myasthenia gravis patients are classified as refractory due to non responsiveness to conventional treatment. This retrospective study was done to evaluate clinical profile, epidemiological, laboratory, and features of patients with MG and mode of management using rituximab and complications. Methods: Data of myasthenia gravis patients admitted or presented to outpatient department (previous medical records) with MG between January 2008 and January 2016 were included. A total of 512 patients fulfilled the clinical and diagnostic criteria of myasthenia gravis of which 76 patients met the diagnostic certainty for refractory myasthenia gravis and were evaluated. Results: Out of 76 refractory MG patients, 53 (69.73%) patients fulfilled all the three defined criteria. The median age of onset of the refractory MG group was 36 years with a range of 27–53 years. In our study 25 patients (32.89%) belonged to the age group of 21–30 years. Anti-MuSK antibodies were positive in 8 non-refractory MG patients (2.06%) and 36 refractory MG patients (47.36%). Mean HbA1C was found to be 8.6±2.33. The dose of administered prednisone decreased by a mean of 59.7% (p=3.3x10–8) to 94.6% (p=2.2x10–14) after the third cycle of rituximab treatment. Conclusion: The refractory MG patients are most commonly female with an early age of onset, anti-MuSK antibodies, and thymomas. Refractory MG patients have higher prevalence and poor control (HbA1C >8%) of diabetes mellitus and dyslipidemia probably due to increased steroid usage. Rituximab is very efficient in treatment of refractory MG with adverse effects being low. PMID:27790079

  18. A conceptual framework for evaluating impairments in myasthenia gravis.

    Directory of Open Access Journals (Sweden)

    Carolina Barnett

    Full Text Available BACKGROUND: Myasthenia gravis is characterized by weakness and fatigability of different muscle groups, including ocular, bulbar and the limbs. Therefore, a measure of disease severity at the impairment level in myasthenia needs to reflect all the relevant impairments, as well as their variations with activity and fatigue. We conducted a qualitative study of patients with myasthenia, to explore their experiences and related impairments, aimed at developing a conceptual framework of disease severity at the impairment level in myasthenia gravis. METHODS: Twenty patients representing the spectrum of disease participated in semi-structured interviews. Interviews were recorded and the transcripts were analyzed by content analysis using an inductive approach with line-by-line open coding. Themes were generated from these codes. RESULTS: Two main themes were identified: the severity of the impairments and fatigability (i.e., triggering or worsening of an impairment with activity. The impairments were further classified within body regions (ocular, bulbar and axial/limbs. Fatigability was described as a phenomenon affecting the whole body but also affecting specific impairments, and was associated with fluctuation of the symptoms. Patients were concerned that clinical examination at a single point in time might not reflect their true clinical state due to fatigability and fluctuations in severity. CONCLUSIONS: This conceptual framework reflects the relevance of both severity and fatigability in understanding impairment-based disease severity in myasthenia. This framework could inform the development of impairment measures in myasthenia gravis.

  19. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.

    Science.gov (United States)

    Santos, Ernestina; Moreira, Isabel; Coutinho, Ester; Gonçalves, Guilherme; Lopes, Carlos; Lopes Lima, José; Leite, M Isabel

    2015-12-01

    We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the disease in their development and physical activity was modest. By the age of 34, the patient experienced gradual worsening of fatigue with dyspnoea and pronounced limb weakness, requiring significant increase of pyridostigmine. Further, a remarkable and sustained clinical improvement followed thymectomy with hyperplastic thymus. Despite of the absence of detectable antibodies to acetyl-choline receptor (AChR) (including clustered-AChR), muscle-specific kinase and low-density lipoprotein receptor-related protein-4 antibodies in the serum obtained nine years after thymectomy, the clinical, genetic and histological features are in keeping with the extremely rare association of two rare neuromuscular junction disorders - CMS and myasthenia gravis (MG). The inexistence of other conditions that could potentially associate with thymic hyperplasia also supports the diagnosis of MG. PMID:26363966

  20. The effect of cholinesterase inhibitors of SFEMG in myasthenia gravis.

    Science.gov (United States)

    Massey, J M; Sanders, D B; Howard, J F

    1989-02-01

    We report four patients with myasthenia gravis (MG) in whom single-fiber electromyography (SFEMG) jitter measurements were normal in some muslces while they were taking pyridostigmine and became abnormal 2-14 days after the medication was discontinued. When the abnormality of neuromuscular transmission in MG is mild, cholinesterase inhibitors may mask the findings of increased jitter on SFEMG. PMID:2540433

  1. Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review.

    Science.gov (United States)

    Shelton, G Diane

    2016-06-01

    Myasthenia gravis (MG) is a disorder of neuromuscular transmission in which muscle weakness results from an autoantibody mediated depletion of acetylcholine receptors (AChRs) at the neuromuscular junction. Myasthenia gravis occurs spontaneously in dogs and cats, and as in human MG, an autoimmune response against nicotinic AChRs has been demonstrated and autoantibodies against AChRs implicated in the pathogenesis. While both species are affected with MG, there are distinct differences in clinical presentations and frequency of spontaneous remission. Congenital myasthenic syndromes (CMSs) are hereditary disorders of neuromuscular transmission resulting in structural or functional defects of the neuromuscular junction. The clinical presentation and pathogenesis of a CMS in Jack Russell terriers was first described in the 1970's and 1980s and has since been reported in a few other breeds. Mutations have been reported in CHRNE, COLQ and CHAT in canine CMS. A form of COLQ deficient CMS has recently been reported in cats. PMID:27080328

  2. Detection of multiple antibodies in myasthenia gravis and its clinical significance

    Institute of Scientific and Technical Information of China (English)

    WANG Wei-wei; HAO Hong-jun; GAO Feng

    2010-01-01

    Background Antibodies against acetylcholine receptor, acetylcholinesterase, ryanodine receptor and titin have been found in patients with myasthenia gravis. However, the relations between these antibodies and character of myasthenia gravis are unknown. This study aimed to detect multiple antibodies in myasthenia gravis and to investigate its clinical significance.Methods These antibodies were detected by enzyme-linked immunoabsorbent assay in 89 cases of myasthenia gravis,66 cases of other neurological diseases and 66 healthy controls. The incidences of antibodies were compared using the chi-square test.Results Acetylcholine receptor, acetylcholinesterase, titin and ryanodine receptor antibodies were detected in 53.9%,20.2%, 64.0% and 55.0% of myasthenia gravis patients respectively, higher than in patients of other neurological diseases and controls groups. The combination of the four antibodies assays provided 94.4% sensitivity and 84.0% specificity for the diagnosis of myasthenia gravis. Acetylcholinesterase antibody occurred more frequently in acetylcholine receptor antibody negative patients with adverse reactions to neostigmine test. Titin antibody provided 82.1% sensitivity and 52.5% specificity for myasthenia gravis with thymoma. Incidences of titin and of ryanedine receptor antibody were higher in late onset myasthenia gravis than in early onset myasthenia gravis. The proportion of titin antibody positive patients increased with the severity of myasthenia gravis as graded by a modified Osserman scale.Conclusions Testing for acetylcholine receptor, acetylcholinesterase, titin and ryanodine receptor antibodies can offer a better diagnostic method for myasthenia gravis than each antibody test alone. Titin antibody combined with computed tomography was better for the diagnosis of thymoma. Titin antibody occurred most frequently in severe myasthenia gravis.

  3. Three Types of Striational Antibodies in Myasthenia Gravis

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    Shigeaki Suzuki

    2011-01-01

    Full Text Available Myasthenia gravis (MG is caused by antibodies that react mainly with the acetylcholine receptor on the postsynaptic site of the neuromuscular junction. A wide range of clinical presentations and associated features allow MG to be classified into subtypes based on autoantibody status. Striational antibodies, which react with epitopes on the muscle proteins titin, ryanodine receptor (RyR, and Kv1.4, are frequently found in MG patients with late-onset and thymoma. Antititin and anti-RyR antibodies are determined by enzyme-linked immunosorbent assay or immunoblot. More recently, a method for the detection of anti-Kv1.4 autoantibodies has become available, involving 12–15% of all MG patients. The presence of striational antibodies is associated with more severe disease in all MG subgroups. Anti-Kv1.4 antibody is a useful marker for the potential development of lethal autoimmune myocarditis and response to calcineurin inhibitors. Detection of striational antibodies provides more specific and useful clinical information in MG patients.

  4. Phase II trial of methotrexate in myasthenia gravis.

    Science.gov (United States)

    Pasnoor, Mamatha; He, Jianghua; Herbelin, Laura; Dimachkie, Mazen; Barohn, Richard J

    2012-12-01

    Prednisone is a frequently used treatment for myasthenia gravis (MG) but it has numerous side effects. Methotrexate is a selective inhibitor of dihydrofolate reductase and lymphocyte proliferation and is an effective immuosuppressive medication for autoimmune diseases. Given the negative results of the mycophenolate mofetil study, search for an effective immunosuppressant drug therapy is ongoing. The objective is to determine if oral methotrexate is safe and effective for MG patients who take prednisone. We have initiated a randomized, double-blind, placebo-controlled multicenter trial of methotrexate versus placebo in patients taking at least 10 mg/day of prednisone at enrollment. The methotrexate dose is increased to 20 mg and the prednisone dose is adjusted per protocol during the study. Clinical and laboratory evaluations are performed monthly for 12 months, with the primary efficacy measure being the nine-month prednisone area under the curve (AUC) from months 3 to 12. Secondary outcome measures include MG outcomes, quality of life measures, and a polyglutamation biomarker assay. A total of 18 U.S. sites and 2 Canadian sites are participating, with 48 screened cases, 42 enrolled, with 19 still active in the study.

  5. Investigation on the Mechanism of Exacerbation of Myasthenia Gravis by Aminoglycoside Antibiotics in Mouse Model

    Institute of Scientific and Technical Information of China (English)

    LIU Changqin; HU Fang

    2005-01-01

    Summary: To investigate the underlying mechanism of the exacerbation of myasthenia gravis by aminoglycoside antibiotics. C57/BL6 mice were immunized with acetylcholine receptor (AChR), extracted from electric organ of Narcine timilei according to Xu Haopeng's methods, in complete Fruend's adjuvant (CFA) to establish experimental autoimmune myasthenia gravis (EAMG). EAMG mice were divided randomly into 5 groups: MG group, NS group and three antibiotics groups. The clinical symptom scores of mice were evaluated on d7 after the last immunization and d14 of antibiotics treatment. Repetitive nerve stimulation (RNS) was performed and the levels of anti-AChR antibody (AChR-Ab) were tested at the same time. The mean clinical symptom grades of gentamycin group (1.312, 2.067), amikacin group (1.111, 1.889) and etimicin group (1.263, 1.632) were significantly higher than those of MG group (1.000, 1.200) (P<0.05). The positive rates of RNS of three antibiotics groups were 69.23 %, 58.82 % and 63.16 % respectively, which were significantly higher than those of MG group and NS group (40.00 %, 40.00 %, P<0.05). The AChR-Ab level in serum and the expression of AChR on neuromuscular junction (NMJ) of mice in three antibiotics groups were also higher than those of MG group. Our results indicated that aminoglycoside antibiotics could aggravate the symptom of myasthenia gravis. The exacerbation of myasthenia gravis by these antibiotics probably involves competitively restraining the release of acetylcholine from presynaptic membrane, impairing the depolarization of postsynaptic membrane, depressing the irritability of myocyte membrane around the end-plate membrane and consequently leading to the blockade of neuromuscular junction.

  6. Future perspectives in target-specific immunotherapies of myasthenia gravis.

    Science.gov (United States)

    Dalakas, Marinos C

    2015-11-01

    Myasthenia gravis (MG) is an autoimmune disease caused by complement-fixing antibodies against acetylcholine receptors (AChR); antigen-specific CD4+ T cells, regulatory T cells (Tregs) and T helper (Th) 17+ cells are essential in antibody production. Target-specific therapeutic interventions should therefore be directed against antibodies, B cells, complement and molecules associated with T cell signaling. Even though the progress in the immunopathogenesis of the disease probably exceeds any other autoimmune disorder, MG is still treated with traditional drugs or procedures that exert a non-antigen specific immunosuppression or immunomodulation. Novel biological agents currently on the market, directed against the following molecular pathways, are relevant and specific therapeutic targets that can be tested in MG: (a) T cell intracellular signaling molecules, such as anti-CD52, anti-interleukin (IL) 2 receptors, anti- costimulatory molecules, and anti-Janus tyrosine kinases (JAK1, JAK3) that block the intracellular cascade associated with T-cell activation; (b) B cells and their trophic factors, directed against key B-cell molecules; (c) complement C3 or C5, intercepting the destructive effect of complement-fixing antibodies; (d) cytokines and cytokine receptors, such as those targeting IL-6 which promotes antibody production and IL-17, or the p40 subunit of IL-12/1L-23 that affect regulatory T cells; and (e) T and B cell transmigration molecules associated with lymphocyte egress from the lymphoid organs. All drugs against these molecular pathways require testing in controlled trials, although some have already been tried in small case series. Construction of recombinant AChR antibodies that block binding of the pathogenic antibodies, thereby eliminating complement and antibody-depended-cell-mediated cytotoxicity, are additional novel molecular tools that require exploration in experimental MG.

  7. Multidisciplinary treatment for prepubertal juvenile myasthenia gravis with crisis.

    Science.gov (United States)

    Hirata, Yusuke; Inoue, Masayoshi; Nabatame, Shin; Okumura, Meinoshin; Ozono, Keiichi

    2016-08-01

    The management of juvenile myasthenia gravis (MG) remains controversial. We report herein the case of a 12-year-old girl with prepubertal juvenile MG with respiratory crisis who underwent thymectomy following methylprednisolone pulse therapy. The patient initially developed progressively worsening fatigability, eyelid ptosis, and diplopia, followed by worsening generalized weakness, dysphagia, and dyspnea. Even after i.v. immunoglobulin, the patient presented with rapid onset of severe dyspnea requiring respiratory support with mechanical ventilation and was graded as Myasthenia Gravis Foundation of America class V. After a course of i.v. methylprednisolone pulse therapy, successful control of respiratory crisis was achieved, and trans-sternal thymectomy was performed. Partial remission was achieved postoperatively with oral pyridostigmine without immunosuppressive agents such as steroids or calcineurin inhibitors for 18 months after thymectomy. Early thymectomy following induction methylprednisolone pulse therapy might be a treatment option for prepubertal juvenile MG with severe respiratory crisis. PMID:27324449

  8. Thymic carcinoma in myasthenia gravis developing years after thymectomy.

    Science.gov (United States)

    Katzberg, Hans D; Miller, Robert G; Katz, Jonathan

    2009-07-01

    We report two patients with myasthenia gravis (MG) who underwent thymectomy but developed thymic carcinoma years after the initial surgery. In one patient, the initial thymic pathology was normal, whereas the other had an encapsulated benign thymoma that was found only on pathological assessment. These cases demonstrate that MG may occur as part of a "new" paraneoplastic syndrome even after thymectomy. The late appearance of metastatic thymoma raises questions about monitoring for these patients. PMID:19533649

  9. Myasthenia gravis and pregnancy: clinical implications and neonatal outcome

    OpenAIRE

    Estanol Bruno; Salinas Vicente; Hernández-Ronquillo Lizbeth; Téllez-Zenteno José F; da Silva Orlando

    2004-01-01

    Abstract Background The myasthenia gravis is twice as common in women as in men and frequently affects young women in the second and third decades of life, overlapping with the childbearing years. Generally, during pregnancy in one third of patients the disease exacerbates, whereas in two thirds it remains clinically unchanged. Complete remission can occur in some patients. Methods To describe the clinical course, delivery and neonatal outcome of 18 pregnant women with the diagnosis of myasth...

  10. MuSK-antibody positive myasthenia gravis: questions from the clinic.

    Science.gov (United States)

    Sanders, Donald B; Juel, Vern C

    2008-09-15

    Clinical vignettes are presented of five patients with MuSK-antibody positive myasthenia gravis, each of which demonstrates a diagnostic or therapeutic issue that is unique to or characteristic of this condition. Consideration of these issues leads to questions, many of which are unanswered at this time, about the immunopathology and management of this subset of myasthenia gravis. PMID:18684517

  11. Altered Active Zones, Vesicle Pools, Nerve Terminal Conductivity, and Morphology during Experimental MuSK Myasthenia Gravis

    OpenAIRE

    Patel, Vishwendra; Oh, Anne; Voit, Antanina; Sultatos, Lester G.; Babu, Gopal J.; Wilson, Brenda A.; Ho, Mengfei; McArdle, Joseph J.

    2014-01-01

    Recent studies demonstrate reduced motor-nerve function during autoimmune muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG). To further understand the basis of motor-nerve dysfunction during MuSK-MG, we immunized female C57/B6 mice with purified rat MuSK ectodomain. Nerve-muscle preparations were dissected and neuromuscular junctions (NMJs) studied electrophysiologically, morphologically, and biochemically. While all mice produced antibodies to MuSK, only 40% developed respiratory...

  12. HLA antigens in Japanese patients with myasthenia gravis.

    OpenAIRE

    Matsuki, K; Juji, T.; Tokunaga, K.; Takamizawa, M; Maeda, H.; Soda, M; Nomura, Y; Segawa, M.

    1990-01-01

    HLA antigens in 104 Japanese patients and 41 families with myasthenia gravis (MG) were investigated. The frequencies of DR9 and DRw13 were significantly increased in the patients who developed MG before 3 yr of age. The DQw3 antigen was positive for all the patients that developed MG before 15 yr with only one exception. All the examined cases that developed MG before 3 yr (including this DQw3 negative patient) had the same DQA and DQB DNA restriction fragments. These HLA frequencies decrease...

  13. Study on the Clinical Effectiveness of Thymectomy for Myasthenia Gravis

    Institute of Scientific and Technical Information of China (English)

    PANTiecheng; YANHua; ZHANGNi; PANYouming; TANGYingxiong; WENXiang; SONGDingwei; HUMing; LIULigang; LIUZixiong; YANGMingshan; XUJinzhi; PUBitao; GAOBoting

    2002-01-01

    Objectiv:To investigate the theoretical basis and clinical significance of thymectomy in the treatment of myasthenia gravis (MG). Methods:Analyze the changes in the contents of serum AchRab and sIL-2R, lymphocyte subtypes in Peripheral blood lymphocytes before and after thymectomy in 69 patients. Results:In the study group significant changes were found in serum contents of AchRab and sIL-2R before and after operation and there was also remarkable change in the number and constitution of peripheral blood lymphocyte subtypes. Conclusion:Thymectomy is an effective therapy for MG.

  14. Pathogenesis of myasthenia gravis: update on disease types, models, and mechanisms

    Science.gov (United States)

    Phillips, William D.; Vincent, Angela

    2016-01-01

    Myasthenia gravis is an autoimmune disease of the neuromuscular junction (NMJ) caused by antibodies that attack components of the postsynaptic membrane, impair neuromuscular transmission, and lead to weakness and fatigue of skeletal muscle. This can be generalised or localised to certain muscle groups, and involvement of the bulbar and respiratory muscles can be life threatening. The pathogenesis of myasthenia gravis depends upon the target and isotype of the autoantibodies. Most cases are caused by immunoglobulin (Ig)G1 and IgG3 antibodies to the acetylcholine receptor (AChR). They produce complement-mediated damage and increase the rate of AChR turnover, both mechanisms causing loss of AChR from the postsynaptic membrane. The thymus gland is involved in many patients, and there are experimental and genetic approaches to understand the failure of immune tolerance to the AChR. In a proportion of those patients without AChR antibodies, antibodies to muscle-specific kinase (MuSK), or related proteins such as agrin and low-density lipoprotein receptor-related protein 4 (LRP4), are present. MuSK antibodies are predominantly IgG4 and cause disassembly of the neuromuscular junction by disrupting the physiological function of MuSK in synapse maintenance and adaptation. Here we discuss how knowledge of neuromuscular junction structure and function has fed into understanding the mechanisms of AChR and MuSK antibodies. Myasthenia gravis remains a paradigm for autoantibody-mediated conditions and these observations show how much there is still to learn about synaptic function and pathological mechanisms.

  15. Pathogenesis of myasthenia gravis: update on disease types, models, and mechanisms [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    William D. Phillips

    2016-06-01

    Full Text Available Myasthenia gravis is an autoimmune disease of the neuromuscular junction (NMJ caused by antibodies that attack components of the postsynaptic membrane, impair neuromuscular transmission, and lead to weakness and fatigue of skeletal muscle. This can be generalised or localised to certain muscle groups, and involvement of the bulbar and respiratory muscles can be life threatening. The pathogenesis of myasthenia gravis depends upon the target and isotype of the autoantibodies. Most cases are caused by immunoglobulin (IgG1 and IgG3 antibodies to the acetylcholine receptor (AChR. They produce complement-mediated damage and increase the rate of AChR turnover, both mechanisms causing loss of AChR from the postsynaptic membrane. The thymus gland is involved in many patients, and there are experimental and genetic approaches to understand the failure of immune tolerance to the AChR. In a proportion of those patients without AChR antibodies, antibodies to muscle-specific kinase (MuSK, or related proteins such as agrin and low-density lipoprotein receptor-related protein 4 (LRP4, are present. MuSK antibodies are predominantly IgG4 and cause disassembly of the neuromuscular junction by disrupting the physiological function of MuSK in synapse maintenance and adaptation. Here we discuss how knowledge of neuromuscular junction structure and function has fed into understanding the mechanisms of AChR and MuSK antibodies. Myasthenia gravis remains a paradigm for autoantibody-mediated conditions and these observations show how much there is still to learn about synaptic function and pathological mechanisms.

  16. Anti-MuSK-Positive Myasthenia Gravis in a Patient with Parkinsonism and Cognitive Impairment

    Directory of Open Access Journals (Sweden)

    S. Lanfranconi

    2011-01-01

    Full Text Available Muscle-specific tyrosine kinase- (MuSK- antibodies-positive Myasthenia Gravis accounts for about one third of Seronegative Myasthenia Gravis and is clinically characterized by early onset of prominent bulbar, neck, shoulder girdle, and respiratory weakness. The response to medical therapy is generally poor. Here we report a case of late-onset MuSK-antibodies-positive Myasthenia Gravis presenting with signs of cognitive impairment and parkinsonism in addition to bulbar involvement and external ophthalmoplegia. The pattern of involvement of both peripheral and central nervous system dysfunction might suggest a common pathogenic mechanism, involving impaired cholinergic transmission.

  17. Demyelinating disease in patients with myasthenia gravis Doenças desmielinizantes em pacientes com miastenia gravis

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    Denis Bernardi Bichuetti

    2008-03-01

    Full Text Available Myasthenia gravis (MG is an autoimmune disease characterized by fluctuating muscle weakness, caused by impaired neuromuscular transmission. Patients with MG can present other autoimmune diseases in association, commonly hypo or hyperthyroidism. The association of MG to demyelinating disease is rare and has been described before. We report on three Brazilian patients with MG that presented distinct demyelinating diseases, two monophasic and one recurrent neuromyelitis optica, several years after the diagnosis of MG, and discuss their clinical courses.Miastenia gravis (MG é doença autoimune caracterizada por episódios de fraqueza muscular alternados com melhora, causada por bloqueio da junção neuromuscular. Pacientes com MG podem apresentar outras doenças autoimunes, comumente hipo ou hipertiroidismo, e a associação de MG com doenças desmielinizantes é raramente descrita. Relatamos três pacientes brasileiros com MG que desenvolveram doenças desmielinizantes, dois monofásicos e um neuromielite óptica recorrente, vários anos após o diagnóstico de MG e discutimos seus cursos clínicos.

  18. Invasive medullary thymoma associated with myasthenia gravis: an unusual case Miastenia gravis em um paciente com timoma medular invasivo: relato de caso

    Directory of Open Access Journals (Sweden)

    JORGE S. REIS FILHO

    2000-12-01

    Full Text Available Thymomas are tumors characterized by a remarkable morphological heterogeneity and variable clinical behavior. This tumor has unique clinical associations, most notably with hematological abnormalities and myasthenia gravis. According with the Müller-Hermelink criteria, there are significant differences between the histological types of thymomas and the association with myasthenia gravis. Among the different histological types, medullary thymoma is the least frequent variant associated with this autoimmune disease. In this report we describe a case of medullary thymoma presenting in a 71-year- old woman with a myasthenic syndrome.Os timomas são tumores caracterizados por grande heterogeneidade morfológica e comportamento clínico variável. Este tumor apresenta associações clínicas singulares, principalmente com doenças hematológicas e com a miastenia gravis. De acordo com a classificação de Müller-Hermelink, existem diferenças significativas entre as variedades histológicas dos timomas e sua associação com a miastenia gravis. Entre os diferentes tipos histológicos, o timoma medular é a variante menos frequentemente associada com esta doença autoimune. Neste relato, nós descrevemos caso de timoma medular em uma paciente de 71 anos de idade com síndrome miastênica.

  19. Ocular motor dysfunction and ptosis in ocular myasthenia gravis: effects of treatment

    OpenAIRE

    Kupersmith, M J; Ying, G.

    2005-01-01

    Aim: The optimal treatment of ocular myasthenia gravis (OMG) remains unknown. The authors evaluated the efficacy of prednisone and pyridostigmine in reducing diplopia, ocular motor dysfunction, and ptosis in patients with OMG.

  20. Ocular myasthenia gravis. A critical review of clinical and pathophysiological aspects.

    Science.gov (United States)

    Sommer, N; Melms, A; Weller, M; Dichgans, J

    1993-01-01

    Myasthenia gravis (MG) is probably the best studied autoimmune disease caused by autoantibodies against the acetylcholine receptor (AChR) at the neuromuscular junction, subsequently leading to abnormal fatigability and weakness of skeletal muscle. Extraocular muscle weakness with droopy eyelids and double vision is present in about 90% of MG patients, being the initial complaint in about 50%. In approximately 20% of the patients the disease will always be confined to the extraocular muscles. The single most important diagnostic test is the detection of serum antibodies against AChR which is positive in 90% of patients with generalized MG, but only in 65% with purely ocular MG. Electromyographic studies and the Tensilon test are of diagnostic value in clear-cut cases, but may be equivocal in purely ocular myasthenia, especially the latter not rarely producing false-positive results. Treatment response to corticosteroids and anti-cholinesterase agents is satisfactory in many patients with ocular MG, however other immunosuppressive drugs may also be needed. Pathogenetically relevant steps of the underlying autoimmune process have been elucidated during the last few years; nevertheless a number of questions remain open, especially what starts off the autoimmune process, and why are eye muscles so frequently involved in MG? PMID:8156854

  1. Oculopharyngeal muscular dystrophy as a cause of progression of weakness in antibody positive myasthenia gravis

    OpenAIRE

    Oskarsson, Björn; Ringel, Steven P.

    2013-01-01

    Many neuromuscular conditions cause bulbar and limb weakness, and when several conditions coexist they present additional diagnostic challenges. Here we describe a case of a 45-year-old woman with antibody positive myasthenia gravis since age 16, who then develops treatment-resistant weakness due to genetically proven oculopharyngeal muscular dystrophy. We conclude that the development of treatment-resistant weakness in myasthenia gravis should spur further work up for other neuromuscular dis...

  2. Miastenia gravis congênita e oftalmoplegia externa Congenital myasthenia gravis and external ophthalmoplegia

    Directory of Open Access Journals (Sweden)

    Ana Tereza Ramos Moreira

    2001-10-01

    Full Text Available A miastenia gravis é uma doença crônica, caracterizada por fatigabilidade anormal de músculos estriados, podendo acometer grupos musculares isolados ou tornar-se generalizada. Os autores descrevem um caso de miastenia gravis congênita generalizada e oftalmoplegia parcial em um paciente de 10 anos de idade, portador de sintomas sistêmicos motores e de ausência na adução, abdução e elevação em ambos os olhos e com ptose palpebral bilateral, sendo reduzida à função de infraversão. O paciente foi diagnosticado aos dois anos e seis meses, sendo iniciado tratamento com piridostigmina em doses subterapêuticas, sem alteração importante no quadro clínico. Aos quatro anos de idade, procurou esta instituição, sendo ajustada à dose da medicação, seguindo-se melhora significativa dos sintomas motores sistêmicos, melhora parcial da ptose palpebral e sem alteração na oftalmoplegia externa.Myasthenia gravis is a chronic disease characterized by abnormal fatigability of striated muscles which may involve isolated muscle groups or become generalized. The authors report a case of generalized congenital myasthenia gravis and partial ophthalmoplegia involving a 10-year-old boy with systemic symptoms of absence of adduction, abduction and elevation in both eyes and with bilateral palpebral ptosis, and reduced infraversion function. The patient was diagnosed at two years and six months of age, when treatment with pyridostigmine was started at subtherapeutic doses, with no significant changes in clinical signs and symptoms. At four years of age, the patient was taken to this institution and the dose of his medication was adjusted, with significant improvement of systemic motor systems, partial improvement of palpebral ptosis, and no change in external ophthalmoplegia.

  3. Verapamil-associated cardiogenic shock in a 71-year-old man with myasthenia gravis: a case report

    Directory of Open Access Journals (Sweden)

    Drolet Benoit

    2009-06-01

    Full Text Available Abstract Introduction Myasthenia gravis is a rare neuromuscular disorder associated with a reduction in the availability of acetylcholine receptors at the post-synaptic membranes of skeletal muscles. This is caused by the production of anti-acetylcholine receptor antibodies at the neuromuscular junction due to an autoimmune insult, leading to a compromised neuromuscular transmission. Verapamil can influence, in a dose-dependent fashion, the neuromuscular transmission in myasthenia gravis. Case presentation We report a 71-year-old Caucasian man with myasthenia gravis suffering from a cardiogenic shock following a single dose of verapamil. The patient had uncontrolled atrial fibrillation with a heart rate of 120 beats/min. Atenolol 100 mg was started. The next day, verapamil SR 240 mg was started. Two hours after the first dose of verapamil, the patient complained of weakness and dyspnea with signs of shock; his blood pressure was 70/50 mm Hg and heart rate at 101 beats/min. An echocardiogram showed diffuse hypokinesis of both ventricles with an ejection fraction of 20%. Cardiac catheterization was performed and coronary arteries appeared without significant stenosis, but there was a diffuse hypokinesis. Verapamil was stopped and the patient received intravenous glucagon and calcium chloride. Both the anti-acetylcholine receptor and anti-striated muscle antibodies tested positive. A few hours later, another echocardiogram showed an improvement in the ventricular function, which returned to normal five days later. Conclusion Caution is needed when administering verapamil to patients with myasthenia gravis, especially when the anti-acetylcholine receptor and anti-striated muscle antibodies titres are positive.

  4. Myasthenia gravis and amyotrophic lateral sclerosis: A pathogenic overlap.

    Science.gov (United States)

    Gotaas, Håvard Torvik; Skeie, Geir Olve; Gilhus, Nils Erik

    2016-06-01

    The aim was to examine potential joint disease mechanisms for myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) through the examination of long-term patient cohorts for comorbidity. Recent studies support early involvement of the neuromuscular junction in ALS patients with subsequent degeneration of motor neurons. Medical records at Haukeland University Hospital from 1987 to 2012 were examined for International Classification of Diseases diagnostic codes for MG and ALS. Sera were re-tested for antibodies to acetylcholine receptor, titin, MuSK and GM1. We report one patient with both MG and ALS, and another 3 patients with suggestive evidence of both conditions. This is far more than expected from prevalence and incidence figures in this area if the disorders were unrelated. Our data suggest that immunological mechanisms in the neuromuscular junction are relevant in ALS pathogenesis. Attention should be given to possible therapeutic targets in the neuromuscular junction and muscle in ALS patients. PMID:27102003

  5. Correlative study on the cognitive dysfunction of patients with myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    Wenli Chen; Wenmin Wang; Yi Wang

    2006-01-01

    BACKGROUND: Myasthenia gravis (MG) is considered as a peripheral neuromuscular disorder. Some investigations demonstrate that MG affects central nervous system (CNS), and there are disorders in cognitive function, affection, sleep, mental status and others; however, there are also some different standpoints. Some questions are still disputed, such as whether or not MG exists in the CNS and cognitive function is impaired.DATA SOURCES; Using the terms of "myasthenia gravis, neuropsychological test, memory, central, brain,cognitive dysfunction and so on", we searched the Medline database for the articles about CNS involved in MG, nerve and neuropsychology as well as cognitive function, which were published in the English language between January 198,5 and December 2004. Meanwhile, we also searched CNKI database by inputting "myasthenia gravis, neuropsychology and cognitive function" in Chinese for articles about involved neuropsychology and cognitive function which were published between October 1995 and June 2006 in the Chinese language.STUDY SElECTroN: Data were checked in the first trial, and articles about the influences of MG on CNS,neuropsychology, cognitive function and central cholinergic function were selected, then those were obviously unrelated with above criteria were excluded. Articles which expound the influences of MG on neuropsychology and cognitive were included, but those with repeated contents were also excluded.DATA EXTRACTTON: A total of 89 related English articles and 34 Chinese articles were collected, including 43studies on involved CNS and 32 studies on involved central cholinergic function and cholinergic receptor.Sixty-three literatures were about neuropsychology and cognitive function, which were closely related with this article. Seventy-two articles met inclusive criteria and 66 were excluded. Thirty of sevetty-two were chosen for analysis.DATA SYNTHESrs: MG is an autoimmune disease of muscular diseased fatigue induced by transmission

  6. Fusion protein of single-chain variable domain fragments for treatment of myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    Fangfang Li; Fanping Meng; Quanxin Jin; Changyuan Sun; Yingxin Li; Honghua Li; Songzhu Jin

    2014-01-01

    Single-chain variable domain fragment (scFv) 637 is an antigen-specific scFv of myasthenia gravis. In this study, scFv and human serum albumin genes were conjugated and the fusion pro-tein was expressed in Pichia pastoris. The afifnity of scFv-human serum albumin fusion protein to bind to acetylcholine receptor at the neuromuscular junction of human intercostal muscles was detected by immunolfuorescence staining. The ability of the fusion protein to block myas-thenia gravis patient sera binding to acetylcholine receptors and its stability in healthy serum were measured by competitive ELISA. The results showed that the inhibition rate was 2.0-77.4%, and the stability of fusion protein in static healthy sera was about 3 days. This approach suggests the scFv-human serum albumin is a potential candidate for speciifc immunosuppressive therapy of myasthenia gravis.

  7. Changes in inflammatory cytokine networks in myasthenia gravis

    Science.gov (United States)

    Uzawa, Akiyuki; Kanai, Tetsuya; Kawaguchi, Naoki; Oda, Fumiko; Himuro, Keiichi; Kuwabara, Satoshi

    2016-01-01

    Myasthenia gravis (MG) is an autoimmunological inflammatory disorder of the neuromuscular junction. Inflammation could be a key player for understanding the pathogenesis of MG. We measured the serum levels of 24 inflammatory cytokines in 43 patients with anti-acetylcholine receptor antibody-positive MG and 25 healthy controls. In patients with MG, serum levels of a proliferation-inducing ligand (APRIL), IL-19, IL-20, IL-28A and IL-35 were significantly increased as compared with controls (p IL-35 were significantly decreased after treatment (p < 0.05). In clinical subtype analyses, APRIL and IL-20 were increased in patients with late-onset MG and IL-28A levels were increased in patients with thymoma-associated MG compared with healthy controls (p < 0.01). The results of the present study demonstrate both anti-inflammatory and inflammatory cytokines are upregulated in MG, reflecting the importance of cytokine-mediated inflammation and its regulation in MG pathophysiology. PMID:27172995

  8. HLA antigens in Japanese patients with myasthenia gravis.

    Science.gov (United States)

    Matsuki, K; Juji, T; Tokunaga, K; Takamizawa, M; Maeda, H; Soda, M; Nomura, Y; Segawa, M

    1990-01-01

    HLA antigens in 104 Japanese patients and 41 families with myasthenia gravis (MG) were investigated. The frequencies of DR9 and DRw13 were significantly increased in the patients who developed MG before 3 yr of age. The DQw3 antigen was positive for all the patients that developed MG before 15 yr with only one exception. All the examined cases that developed MG before 3 yr (including this DQw3 negative patient) had the same DQA and DQB DNA restriction fragments. These HLA frequencies decreased as the age of onset increased, and no significant association was observed in adult-onset MG. No patients had B8, DR3, and DQw2. The relative risk was higher for the DR9/DRw13 heterozygotes (37.4) than for DR9 (16.4) or DRw13 (7.1) in the childhood-onset MG. Statistical analysis suggested that DR9 and DRw13 (or DQw1 and DQw3) act synergistically in the disease development. Family study revealed diverse DR9 haplotypes. The most frequent DRw13 haplotype was Bw44-BFF-C4A3B1-DRw13-DQw1, which may be evolutionarily related to the caucasian B8-DR3-DQw2 haplotype. These results showed that MG in early childhood in Japanese individuals is genetically different from that in adulthood and that in caucasians. Images PMID:1974553

  9. Myasthenia gravis in children: analysis of 18 patients

    Directory of Open Access Journals (Sweden)

    Morita Maria da Penha A.

    2001-01-01

    Full Text Available Myasthenia gravis (MG in childhood is rare comprising 10 to 20 % of all myasthenic patients. We studied 18 patients with MG whose first symptoms started from 1 to 12 years of age, followed at the Department of Neurology of the UNIFESP-EPM, from January 1983 to August 1997. There were 10 girls and 8 boys (1.2:1. Eleven patients (61% presented moderate or severe generalized disease and 4 (22% had at least one myasthenic crisis. EMG with supramaximal repetitive nerve stimulation was diagnostic in 8 (47% out of 17 patients, and chest CT was normal in 14 patients. Seropositivity to acetylcholine receptor antibodies was found in 81.6% (9 out of 11 tested and the levels had no relation to clinical severity. Nine out of 16 patients (56% worsened with pyridostigmine alone and were treated with prednisone. Four out of those nine continued worsening despite steroids and were subjected to thymectomy (all showed thymic lymphoid follicular hyperplasia. Three patients (75% improved markedly after thymectomy and one (25% worsened, eventually getting better with intravenous immunoglobulin and oral azathioprine. MG treatment, using all resources available, has to be individualized for each child.

  10. Quality of life and life circumstances in German myasthenia gravis patients

    OpenAIRE

    Pöhlau Dieter; Klewer Jörg; Wiesmeth Susanne; Twork Sabine; Kugler Joachim

    2010-01-01

    Abstract Background Myasthenia gravis (MG) is a chronic neuromuscular disease. Advances in medical therapy have continuously increased the life expectancy of MG patients, without definitively curing the disease. To analyze life circumstances and quality of life (QoL), a large German MG cohort was investigated. Methods and Sample In cooperation with the German Myasthenia Association, 2,150 patients with confirmed MG were asked to respond to a mailed questionnaire. The standardized questions re...

  11. Diagnosis of Tensilon-Negative Ocular Myasthenia Gravis By Daily Selfie.

    Science.gov (United States)

    Guterman, Elan L; Botelho, James V; Horton, Jonathan C

    2016-09-01

    The initial symptoms of myasthenia gravis are usually ptosis and diplopia. The diagnosis is often confirmed by testing for anti-acetylcholine receptor antibodies or by observing the effects of intravenous edrophonium (Tensilon) injection. However, these standard tests may be negative in patients with isolated ocular findings. We present the case of an 83-year-old woman with negative serologic and Tensilon testing. She was asked to photograph herself daily. The resulting sequence of daily selfies captured striking fluctuations in her ocular alignment and ptosis. Daily selfies may be a useful strategy for confirming the clinical diagnosis of ocular myasthenia gravis.

  12. Thymus involvement in myasthenia gravis: Epidemiological and clinical impacts of different self-tolerance breakdown mechanisms.

    Science.gov (United States)

    Karni, Arnon; Asmail, Ali; Drory, Vivian E; Kolb, Hadar; Kesler, Anat

    2016-09-15

    The reasons for the abrogation of self-immunological tolerance in patients with myasthenia gravis (MG) may be different between those with concomitant thymic hyperplasia or thymoma, and those with no evidence of thymic involvement. We conducted a retrospective observational case series study to investigate the epidemiology as well as the clinical, serologic, and electromyographic (EMG) characteristics of individuals diagnosed as having MG. We found that the average age at MG onset of patients with either thymic hyperplasia or thymoma was much younger (by ~20years) than that of MG patients without thymic involvement. Thymic hyperplasia was more common in females than males. There were no differences in the rates of ocular MG vs. generalized MG among those three study groups. There were also no group differences in the rates of neuromuscular junction disfunction, as observed on EMG or by the results of serology tests for acetyl choline receptor antibody. Interestingly, only patients without thymic involvement had other autoimmune diseases, and most of them were females. The patients with other coexisting autoimmune disease had a similar age at MG onset as the other patients with no thymic involvement. These results shed light on the impact of epidemiological and clinical factors that result from different mechanisms of self-immunological tolerance breakdown that occurs in MG. PMID:27609276

  13. Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population

    Directory of Open Access Journals (Sweden)

    Zoi Zagoriti

    2012-01-01

    Full Text Available Myasthenia gravis (MG is an heterogeneous autoimmune disease characterized by the production of autoantibodies against proteins of the postsynaptic membrane, in the neuromuscular junction. The contribution of genetic factors to MG susceptibility has been evaluated through family and twin studies however, the precise genetic background of the disease remains elusive. We conducted a case-control association study in 101 unrelated MG patients of Hellenic origin and 101 healthy volunteers in order to assess the involvement of common genetic variants in susceptibility to MG. We focused on three candidate genes which have been clearly associated with several autoimmune diseases, aiming to investigate their potential implication in MG pathogenesis. These are interferon regulatory factor 5 (IRF-5, TNFα-induced protein 3 (TNFAIP3, also known as A20, and interleukin-10 (IL-10, key molecules in the regulation of immune function. A statistical trend of association (P=0.068 between IL-10 promoter single nucleotide polymorphisms (SNPs and the subgroups of early and late-onset MG patients was revealed. No statistically significant differences were observed in the rest of the variants examined. As far as we are aware, this is the first worldwide attempt to address the possible association between IRF-5 and TNFAIP3 common genetic variants and the genetic basis of MG.

  14. Assessment of cognitive function in patients with myasthenia gravis

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    Sherifa A Hamed

    2014-12-01

    Full Text Available Aim: During the past decade, there has been an increasing interest in the evaluation of cognitive function in myasthenia gravis (MG, neuromuscular transmission disorder caused by acetylcholine receptor auto-antibodies. However, the results of previous studies on cognition and MG are inconsistent and controversial. This study aimed to evaluate cognition in patients with mild/moderate grades of MG. Methods: This study included 20 patients with MG with a mean age of 28.45 ± 8.89 years and duration of illness of 3.52 ± 1.15 years. Cognition was tested using a sensitive battery of psychometric testing (Mini-mental State Examination [MMSE], Stanford-Binet Intelligence Scale 4 th edition [SBIS] and Wechsler Memory Scale-Revised [WMS-R] and by recording P300 component of event-related potentials (ERPs, a neurophysiological analog for cognitive function. Results: Compared with healthy subjects (n = 20, patients had lower total scores of cognitive testing (MMSE, SBIS and WMS-R (P = 0.001, higher Beck Depression Inventory 2 nd edition scores (P = 0.0001 and prolonged latencies (P = 0.01 and reduced amplitudes (P = 0.001 of P300 component of ERPs. Correlations were identified between total scores of cognitive testing and age (r = -0.470, P = 0.010, duration of illness (r = -0.788, P = 0.001 and depression scores (r = -0.323, P = 0.045. Using linear regression analysis and after controlling for age and depression scores, a significant correlation was identified between total scores of cognitive testing and duration of illness (β = -0.305, P = 0.045. Conclusion: Patients with mild/moderate MG may have cognitive dysfunction. This is important to determine prognosis and managing patients.

  15. The clinical outcome of thymectomy in myasthenia gravis

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    Mirsharifi R

    2009-02-01

    Full Text Available "nBackground: Myasthenia Gravis (MG is a neuromuscular disorder with weakness of skeletal muscles. Thymectomy is now recognized as a treatment modality in MG. The aim of this study was to evaluate the clinical effect of thymectomy on MG. "nMethods: MG patients with history of thymectomy at a tertiary referral center during twelve year period were included. The medical records were reviewed and telephone survey was conducted to evaluate the effects of thymectomy. "nResults: Sixty MG patients, 46 females and 14 males, aged 30.4±11.1 years, underwent open (n=48 or video-assisted thoracoscopic thymectomy (n=12 during study period. The mean dosage of preoperative pyridostigmine was 235.4±86.2mg/day. This figure reached to 129±18mg/day after thymectomy (p<0.0001. 17 patients (28.3% had complete remission (complete freedom of symptoms without medications. Improve-ment (improved symptoms or less medication requirement was seen in 34 patients (56.6%. There was no response to surgical therapy in six patients (10%. Three patients (5% had experienced progression of disease postoperatively. Overall, benefit of thymectomy was observed in 85% of patients. Age, sex, duration and severity of disease, quantity of preoperative drugs, surgical approach, and presence of thymoma did not affect the outcome. Satisfaction was stated as excellent in 17%, good in 43%, moderate in 35% and poor in 5% of patients after operation. "nConclusion: Thymectomy is an effective treatment for MG which leads to less severity of disease and less drug requirement. It would be considered in all myasthenic patients regardless of age, sex, duration and severity of disease and presence of thymoma.

  16. Nonmelanoma skin cancer risk awareness in azathioprine-treated myasthenia gravis patients.

    LENUS (Irish Health Repository)

    McGurgan, Iain J

    2015-10-01

    Increased rates of NMSC (nonmelanoma skin cancer) have recently been reported in people with MG (myasthenia gravis) receiving azathioprine treatment. Guidelines on azathioprine for patients with dermatological and gastrointestinal disorders stress the importance of NMSC risk awareness and prevention. The aim of this study is to assess whether MG patients are being informed of this risk.

  17. Use of lipid-lowering medications in myasthenia gravis: a case report and literature review.

    Science.gov (United States)

    Ragbourne, Sophie C; Crook, Martin A

    2015-01-01

    We present a patient with myasthenia gravis (MG) who developed worsening of his condition after starting ezetimibe. We review the literature concerning lipid-modifying medications and MG. The use of bile acid sequestrant agents may have a place in the lipid management of MG patients because they did not seem to cause muscle-related side effects or worsening of MG.

  18. VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis

    DEFF Research Database (Denmark)

    Avidan, Nili; Le Panse, Rozen; Harbo, Hanne F;

    2014-01-01

    OBJECTIVE: To identify novel genetic loci that predispose to early-onset myasthenia gravis (EOMG) applying a two-stage association study, exploration, and replication strategy. METHODS: Thirty-four loci and one confirmation loci, human leukocyte antigen (HLA)-DRA, were selected as candidate genes...

  19. Predictors of postoperative myasthenic crisis in patients with myasthenia gravis after thymectomy

    Institute of Scientific and Technical Information of China (English)

    CHU Xiang-yang; XUE Zhi-qiang; WANG Ru-wen; TAN Qun-you

    2011-01-01

    Background Thymectomy is considered the most effective treatment in patients with myasthenia gravis. This study aimed to explore the predictors of postoperative myasthenic crisis in patients with myasthenia gravis after thymectomy.Methods Clinical records of 243 patients with myasthenia gravis who underwent thymectomy were reviewed retrospectively. The following factors were analyzed in relation to the occurrence of myasthenic crisis after thymectomy:gender, age, duration of symptoms, Osserman stage, history of myasthenic crisis, concomitant diseases, preoperative pyridostigmine dose, preoperative steroid therapy, operation approach, operation time, presence of thymoma, major postoperative complications.Results Forty-four patients experienced postoperative myasthenic crisis during the first month after thymectomy.Univariate analysis revealed that Osserman stage (RR=0.0976, P=0.000), history of myasthenic crisis (RR=0.2309,P=0.012), preoperative pyridostigmine dose (RR=0.4349, P=0.016), thymoma (RR=0.0606, P=0.000), and major postoperative complications (RR=0.1094, P=0.000) were significantly related to postoperative myasthenic crisis.Multivariate Logistic regression analysis showed that Osserman stage (Ⅱb+Ⅲ+Ⅳ) (RR=0.0953, P=0.000), thymoma (RR=0.0294, P=0.000), and major postoperative complications (RR=0.0424, P=0.000) independently predict postoperative myasthenic crisis.Conclusion Osserman stage (Ⅱb+Ⅲb+Ⅳ), thymoma and major postoperative complications are independent predictors of postoperative myasthenic crisis in patients with myasthenia gravis who underwent thymectomy.

  20. What's in a smile? : Quantification of the vertical smile of patients with myasthenia gravis

    NARCIS (Netherlands)

    Weijnen, FG; Wokke, JHJ; Kuks, JBM; van der Glas, HW; Bosman, F

    2000-01-01

    Many patients with myasthenia gravis who experience bulbar symptoms show a vertical smile, which may have a considerable, and often underestimated, impact on social life. Peri-oral muscle function can be quantified by calculating lip-length and snout indices, which indicate the degree to which a per

  1. HLA TYPE IS NOT INDICATIVE FOR THE EFFECT OF THYMECTOMY IN MYASTHENIA-GRAVIS

    NARCIS (Netherlands)

    KUKS, JBM; LEMS, SPM; OOSTERHUIS, HJGH

    1992-01-01

    The frequency of HLA types in a selected group of 40 patients with myasthenia gravis in relation to the effect of thymectomy and also to gender, and thymus histology was studied. As generally described we found a significant increase in the frequency of HLA-A1, HLA-B8, HLA-DR3 and HLA-DQ2 in the tot

  2. Unmasking of myasthenia gravis during pegylated Alfa 2 a interferon and ribavirin therapy for chronic hepatitis C.

    Science.gov (United States)

    Saleem, Ayesha

    2016-05-01

    Over last few decades, hepatitis C has emerged as a serious infection that has threatened the health and budgets of millions in the world. The objective of health professionals to treat it with recommended therapy of Alfa interferon and Ribavirin combination presents certain risks. One of the alarms is the ability of interferon to stimulate the production of autoantibodies in the body resulting in expression of autoimmune diseases in few who develop these antibodies. The case presented here is about unmasking of myasthenia gravis in a patient who received alfa interferon therapy for her chronic hepatitis C. Alfa interferon probably plays an important role in manifestation of the diseases in susceptible patients and all autoimmune diseases cannot be taken as mere side effects of the therapy. Clinicians need to be alert to pick up these diseases earlier so that the prompt management is possible. PMID:27183950

  3. Sympathetic skin response in patients with myasthenia gravis A comparative analysis

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    BACKGROUND: The examination of sympathetic skin response is an important index for assessing the autonomic nerve function, and patients with myasthenia gravis are always accompanied by dysautonomia.Therefore, it will be important to know whether sympathetic skin response can be used as the index for the clinical evaluation of myasthenia gravis.OBJECTIVE: To investigate the diagnostic value of sympathetic skin response in the damage of autonomic nerve function of patients with myasthenia gravis.DESIGN: A case-controlled comparative observation.SETTING: Department of Neurology and Room of Nerve Electromyogram, the Affiliated Hospital of North Sichuan Medical College.PARTICIPANTS: Thirty outpatients or inpatients with myasthenia gravis were selected from the Department of Neurology, the Affiliated Hospital of North Sichuan Medical College from May 2006 to May 2007, including 9 males and 21 females, aged 8 - 72 years with a mean age of (28±5) years old. They were all accorded with the diagnostic standards of myasthenia gravis, accompanied by different severity of autonomic nerve symptoms, including poor skin nutrition, sweating of hands and feet, pyknocardia,persistent hypotension, abdominal pain, constipation, etc. They all had not taken any drug affecting the autonomic nerve function before the examination. Informed consents were obtained from all the patients.Meanwhile, 30 healthy physical examinees were enrolled as the normal control group, including 10 males and 20 females, aged 10 - 75 years with a mean age of (31±5) years old. Approval was obtained from the hospital ethic committee.METHODS: After admission, the patients were examined with sympathetic skin response using DANTEC keypoint 2.0 electromyography evoked potential apparatus (Danmark). The changes of the latency and wave amplitude of sympathetic skin response were observed. The subjects in the normal control group were examined with the same methods at physical examination. Abnormality was judged by

  4. Lupus eritematoso sistêmico associado a miastenia gravis: relato de caso Systemic lupus erythematosus and myasthenia gravis: case report

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    MARCIO F. DE CARVALHO

    1998-03-01

    Full Text Available Os autores descrevem o caso de uma mulher branca de 24 anos de idade admitida com lupus eritematoso sistêmico (com 4 anos de evolução de doença e início recente de miastenia gravis. São discutidos os principais diagnósticos diferenciais para a fraqueza muscular e a fadiga apresentadas por esta paciente. Uma revisão de literatura abordando a associação de miastenia gravis e lupus eritematoso é feita, com ênfase às características clínicas desses pacientes e ao papel do timoma e timectomia no desenvolvimento de lupus eritematoso em pacientes previamente miastênicos.We report the case of a 24-year-old white woman admitted with a four year diagnosis of systemic lupus erythematosus and the recent onset of myasthenia gravis discussing the main differential diagnosis of weakness and fatigue in this patient. A review of literature approaching the association of myasthenia gravis and systemic lupus erythematosus is also done with emphasis on the clinical characteristics of these patients and the role of thymoma and thymectomy in the development of systemic lupus erythematosus in myasthenic patients.

  5. Anestesia peridural torácica para cirurgia plástica de mama em paciente portadora de miastenia gravis: relato de caso Anestesia peridural torácica para cirugía plástica de mama en paciente portadora de miastenia gravis: relato de caso Thoracic epidural anesthesia for mammaplasty in myasthenia gravis patient: case report

    Directory of Open Access Journals (Sweden)

    Fabiano Timbó Barbosa

    2005-06-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: A miastenia gravis é uma doença crônica, auto-imune, caracterizada pela fraqueza da musculatura esquelética em decorrência da diminuição dos receptores de acetilcolina na junção neuromuscular. O objetivo deste relato é mostrar um caso de paciente com miastenia gravis submetida a anestesia peridural torácica para cirurgia plástica de mama. RELATO DO CASO: Paciente com 51 anos, portadora de miastenia gravis foi submetida a anestesia peridural torácica com bupivacaína e fentanil. Não houve sinais de depressão respiratória. A paciente recebeu alta hospitalar após 36 horas. CONCLUSÕES: O presente caso sugere como conduta anestésica para o paciente portador de miastenia gravis a anestesia peridural como técnica única, sem a obrigatoriedade de intubação orotraqueal.JUSTIFICATIVA Y OBJETIVOS: La miastenia gravis es una enfermedad crónica, auto-inmune, caracterizada por la debilidad de la musculatura esquelética resultante de la disminución de los receptores de acetilcolina en la unión neuromuscular. El objetivo de este relato es mostrar el caso de una paciente con miastenia gravis sometida a anestesia peridural torácica para una cirugía plástica de mama. RELATO DEL CASO: Paciente del sexo femenino, 51 años, portadora de miastenia gravis fue sometida a anestesia peridural torácica con bupivacaína y fentanil. No hubo señales de depresión respiratoria. La paciente recibió alta hospitalaria después de 36 horas. CONCLUSIONES: Este actual caso sugiere como conducta anestésica para el paciente portador de miastenia gravis la anestesia peridural como única técnica, sin la obligatoriedad de intubación orotraqueal.BACKGROUND AND OBJECTIVES: Myasthenia gravis is a chronic autoimmune disease characterized by skeletal muscles weakness promoted by decreased acetylcholine receptors in the neuromuscular junction. This report aimed at describing a case of myasthenia gravis patient submitted to thoracic

  6. Coexistence of primary sclerosing cholangitis in a patient with myasthenia gravis

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    P J Lorenzoni

    2011-01-01

    Full Text Available Myasthenia gravis (MG is an immune-mediated disease that compromises the postsynaptic membrane of the neuromuscular junction. Primary sclerosing cholangitis (PSC is considered an immune-mediated cholestatic liver disease. Both MG and PSC include an autoimmune pathogenesis, so there is some evidence that patients with MG or PSC have a higher risk of developing autoantibodies and other immune disorders than normal controls, but the coexistence of these two disorders has never been documented. We report a 40-year-old woman who presented with MG when she was 20 years old and developed PSC 20 years after a thymectomy. Liver biochemistry revealed cholestasis. Magnetic resonance imaging showed multifocal strictures and beads involving the intrahepatic bile ducts. A liver biopsy confirmed sclerosing cholangitis. Serological analysis demonstrated positive autoantibodies (Anti-nuclear antibodies, anti-smooth muscle antibodies. Repetitive stimulation had a decremental response, and antibodies to acetylcholine receptors were detectable. To our knowledge, this is the first case of PSC in a patient with MG. The main characteristics of both MG and PSC combination are discussed.

  7. [Current status and future prospects of therapy for myasthenia gravis: considering thymectomy].

    Science.gov (United States)

    Yoshikawa, Hiroaki; Iwasa, Kazuo; Takamori, Masaharu

    2011-07-01

    The benefits of thymectomy in non-thymomatous patients with myasthenia gravis (MG) remain controversial. The first detailed case of thymectomy in a patient with MG was reported in 1939, following which many cases were published. In 2000, Gronseth and Barohn reported the first meta-analysis of the effectiveness of thymectomy in MG patients without thymoma. They reviewed 28 papers systematically and reached these conclusions: (1) The benefit of thymectomy in non-thymomatous autoimmune MG has not been conclusively established, and (2) a well-designed controlled trial is essential. Following this report, Newsom-Davis et al. designed a thymectomy trial for non-thymomatous MG patients receiving prednisone (the MGTX study). Their study compared extended trans-sternal thymectomy (ETTX) combined with prednisone and prednisone alone groups with the aim to answer 3 questions: (1) Is the former more effective in improving myasthenic weakness? (2) Does the former require a lower total dose of prednisone, and thus decrease the likelihood of concurrent and long-term toxic effects? (3) Does the former enhance patients' quality of life by reducing adverse events and symptoms associated with the therapy? Currently, 67 centers, including our institute, are involved in this study. In total, 106 patients have been enrolled (the recruitment goal is 150). The patients are scheduled for a 5-year follow-up. The MGTX study will offer new information on the role of thymectomy in improving the quality of life of patients with MG. PMID:21747143

  8. Keep An Eye Out For Myasthenia Gravis Patients With An Eye Out

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    A Arturo eLeis

    2014-07-01

    Full Text Available Eye trauma and blindness are common in the United States, with an incidence of over 2 million cases per year and 25 million blind adults, respectively. However, literature is surprisingly scarce on the potential confounding effect of eye trauma or blindness on the diagnosis of myasthenia gravis (MG, an autoimmune neuromuscular disease in which fluctuating ocular symptoms are the most distinguishing feature. We present the case of a 75 year-old man with eye enucleation referred for electrodiagnostic evaluation of the right upper limb after an accidental fall. Neurological examination showed proximal muscle weakness, but MG was not initially considered because the patient lacked the classic ocular symptoms of MG. The delay in diagnosis resulted in worsening of systemic MG symptoms, although in other patients it may have precipitated MG crisis or possibly death. Greater awareness that eye trauma or blindness can prevent expression of ocular symptoms in neuromuscular disorders is needed to avoid morbidity associated with an erroneous or delayed diagnosis.

  9. A misdiagnosed myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies with possible childhood onset

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    Nikolić Ana V.

    2015-01-01

    Full Text Available Introduction. Childhood onset myasthenia gravis associated with anti-muscle-specific tyrosine kinase antibodies is very rare and atypical in presentation. Case report. As a baby, the pre-sented patient was choking and sleeping with open eyes. She had weak cry and breathing difficulties. In childhood, there were frequent falls and fluctuating swallowing difficulties. At the age of 19 she was misdiagnosed with Miller Fisher syndrome due to the presence of diplopia, ataxia and hyporeflexia with spontaneous recovery. Repetitive nerve stimulation test was normal. Four years later, after several relapses, there was significant decrement on facial muscles. Neostigmine test was negative, provoking muscle fasciculations. Serum anti-muscle-specific tyrosine kinase antibodies were positive. With cyclosporine therapy she achieved the minimal manifestations status. Conclusion. The presented case confirms that childhood onset myasthenia gravis associated with anti-muscle-specific tyrosine kinase antibodies is often with atypical presentation and spontaneous remissions, so it could be easily misdiagnosed.

  10. New onset of myasthenia gravis 10 years after proton beam therapy for thymoma.

    Science.gov (United States)

    Karasaki, Takahiro; Murakawa, Tomohiro; Nagayama, Kazuhiro; Nitadori, Jun-Ichi; Anraku, Masaki; Kikuchi, Yoshinao; Shinozaki-Ushiku, Aya; Igaki, Hiroshi; Nakajima, Jun

    2016-05-01

    A 36-year-old woman underwent proton beam therapy for encapsulated type B1 thymoma for curative intent at 66 GyE. Radiographically partial response was achieved. Although the tumor size had been stable since that time, she developed systemic myasthenia gravis 10 years after the proton therapy. Extended thymectomy was performed. There were no adhesions between the tumor and the pericardium, and there were no adhesions also between the tumor and the sternum, probably due to the favor of Bragg peak effect. Extensive hyalinization with small foci of viable tumor cells showing degenerated type A-like morphology was observed in the resected tumor. Whether the viable cells represented recurrence with degenerative changes or de novo tumor formation was unable to be determined, and whether the viable cells were responsible for the onset of myasthenia gravis remained unclear. PMID:25301055

  11. Lúpus Eritematoso Sistêmico com fraqueza muscular por Miastenia Gravis Systemic Lupus Erythematosus with muscle weakness due to Myasthenia Gravis

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    Sâmia Araújo de Sousa Studart

    2011-06-01

    Full Text Available O Lúpus Eritematoso Sistêmico (LES e a Miastenia Gravis (MG são doenças autoimunes cuja associação em um mesmo paciente é raramente descrita. Essas patologias compartilham algumas características como acometimento de mulheres jovens, positividade para anticorpos antinucleares, evolução em períodos de exacerbações e remissões. O presente relato de caso analisa as possíveis hipóteses diagnósticas para um quadro clínico de ptose palpebral e fraqueza muscular proximal em uma paciente portadora de lúpus recente que evoluiu com MG associada.Systemic lupus erythematosus (SLE and myasthenia gravis (MG are autoimmune diseases, whose association in the same patient is rarely reported. Both pathologies share the following characteristics: affect mainly young women; alternate exacerbation and remission periods; and have positive antinuclear antibody (ANA test. This case report assesses possible diagnostic hypotheses for the clinical findings of eyelid ptosis and proximal muscle weakness in a female patient recently diagnosed with SLE, who evolved with associated MG.

  12. Von Hippel-Lindau disease associated with myasthenia gravis not related to thymoma

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    Paolo Pozzato

    2013-04-01

    Full Text Available BACKGROUND Von Hippel-Lindau disease (VHL is a rare autosomal dominant inherited disorder characterized by an increased risk of tumours in a number of locations (eyes, brain, adrenal gland, pancreas, liver, kidneys, or other areas of the body. It is caused by germline mutation in the VHL gene. The VHL gene is a tumour suppressor gene that has been identified on the short arm of chromosome 3. CASE REPORT We report a case of a 60 year-old female with the clinical diagnosis of VHL type 1 (cerebellar haemangioblastoma, pancreatic cysts with subsequent steatorrhoea, and bilateral renal carcinoma who developed weakness and fatigability of skeletal muscles, left lid ptosis, snarling expression and nasal timbre speech. Acetylcholine receptor antibodies were negative in serum, while the electrodiagnostic test demonstrated an alteration of neuromuscolar junction which was consistent with the diagnosis of myasthenia gravis. Contrast-enhanced TC scan of the anterior mediastinum was performed, which excluded thymus enlargement. VHL gene evaluation in this patient identified a new mutation (c279delC9 and polymorphism c291C>G. At present the patient still suffers from ataxia and dysmetria due to cerebellar involvement in VHL, while fatigue and lid ptosis improved after the treatment with oral pyridostigmine 60 mg tid. DISCUSSION AND CONCLUSIONS To our knowledge this is the first report of a case of VHL associated with myasthenia gravis without thymoma. A case of VHL associated with a form of myasthenia gravis related to thymoma has been recently reported. In our case the absence of acetylcholine receptor antibodies may suggest a genetic origin also for the myasthenia gravis.

  13. An undiagnosed myasthenia gravis presenting as isolated recurrent acute respiratory failure

    OpenAIRE

    Shri Ram Sharma; Nalini Sharma; Yeolekar, M E

    2012-01-01

    Acute respiratory failure is an uncommon initial presentation of myasthenia gravis (MG). In our case a 22-year-old woman of unrecognized MG presented to the emergency department with isolated respiratory failure as the first presenting symptom. Initially she presented with dysphonia and was managed by speech therapist and ENT surgeons for 3 months. Subsequently, she presented with signs and symptoms of sepsis and went into acute respiratory failure. This case highlights the need to consider M...

  14. Rare association of thymoma, myasthenia gravis and sarcoidosis : a case report

    OpenAIRE

    Kurukumbi Mohankumar; Weir Roger L; Kalyanam Janaki; Nasim Mansoor; Jayam-Trouth Annapurni

    2008-01-01

    Abstract Introduction The association of thymoma with myasthenia gravis (MG) is well known. Thymoma with sarcoidosis however, is very rare. We presented an interesting case with coexisting thymoma, MG and sarcoidosis. Case presentation A 59-year-old female patient with a history of sarcoidosis was admitted to the hospital with a one-day history of sudden onset of right-sided partial ptosis and diplopia. Neurosarcoidosis with cranial nerve involvement was considered, but was ruled out by the c...

  15. Familienplanung von Frauen mit chronischen neuroimmunlogischen Erkrankungen am Beispiel der Myasthenia gravis und Multiplen Sklerose

    OpenAIRE

    Ohlraun, Stephanie

    2016-01-01

    Background: Decisions on family planning are often complex, especially for women with neurological disorders. Uncertainties and concerns often exist on both sides, in patients and physicians. The aim of this study was to analyze aspects of decision making regarding family planning in chronic neurologically diseased patients (here myasthenia gravis, MG), as well as to assess the knowledge and counseling behavior of physicians in the context of family planning and pregnancy in MG and multip...

  16. Juvenile Myasthenia Gravis: A Report of Three Cases and Literature Review

    OpenAIRE

    Ünsal Yilmaz

    2014-01-01

    Aim: Juvenile myasthenia gravis accounts for 10% to 15% of all cases and it is even rarer in prepubertal children. Therefore, limited data are available on its presentation, diagnosis, treatment and outcome, particularly in younger children. Early diagnosis is imperative for delaying the progression of the disease, and prevention and adequately management the myasthenic crisis. Presence of acetylcholine receptor antibodies which occur only in half of prepubertal children wih myastenia helps i...

  17. Non-coronary myocardial infarction in myasthenia gravis: Case report and review of the literature

    OpenAIRE

    Zis, Panagiotis; Dimopoulos, Stavros; Markaki, Vasiliki; Tavernarakis, Antonios; Nanas, Serafim

    2013-01-01

    Cardiovascular adverse events in patients with myasthenia gravis (MG) are rare, but the early recognition of such events is crucial. We describe a case of a non-coronary myocardial infarction (MI) during the initial treatment period with pyridostigmine bromide in a female patient with MG. Clinicians should be cautious about the appearance of potential MI in patients with MG. A baseline electrocardiogram is advocated, when the early recognition of the MI clinical signs and the laboratory findi...

  18. Teste do gelo no diagnóstico de miastenia gravis Ice pack test in the diagnosis of myasthenia gravis

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    Nilson Lopes da Fonseca Junior

    2010-04-01

    Full Text Available OBJETIVO: Demonstrar a sensibilidade e especificidade do teste do gelo no diagnóstico diferencial de ptose palpebral por miastenia gravis. MÉTODOS: Estudo prospectivo tipo ensaio clínico com grupo controle. Foi realizado o teste do gelo em pacientes portadores de ptose palpebral. Os pacientes foram divididos em 2 grupos, sendo o grupo I constituído por pacientes com miastenia gravis e o grupo II (controle formado por pacientes portadores de ptose congênita, miogênica não-miastênica ou aponeurótica. RESULTADOS: Todos os pacientes do grupo I tiveram aumento da fenda palpebral de, no mínimo, 3 mm após a aplicação do gelo. Nenhum paciente do grupo II apresentou incremento da fenda palpebral após o teste. CONCLUSÃO: O teste do gelo mostrou-se específico para detecção de ptose palpebral de causa miastênica.PURPOSE: To demonstrate the sensitivity and the specificity of the ice test in the differential diagnosis of ptosis in myasthenia gravis. METHODS: Prospective trial with a control group. The patients were instructed to hold a frozen ice pack on the closed ptotic eyelid. They were divided into 2 groups, with group I consisting of patients with myasthenia gravis and group II (control consisting of patients with congenital, non-myasthenic myogenic or aponeurotic ptosis. RESULTS: All patients in group I had increased palpebral fissure for at least 3 mm after the application of ice pack. No patient in group II showed increased palpebral fissure after the ice test. CONCLUSION: Ice test proved to be specific for the detection of myasthenic ptosis.

  19. Seropositive myasthenia and autoimmune autonomic ganglionopathy: cross reactivity or subclinical disease?

    Science.gov (United States)

    Miglis, Mitchell G; Racela, Rikki; Kaufmann, Horacio

    2011-10-28

    Autoimmune autonomic ganglionopathy (AAG) and myasthenia gravis (MG) are both autoimmune channelopathies mediated by antibodies directed against nicotinic acetylcholine receptors. While both diseases target acetylcholine receptors, skeletal muscle and ganglionic receptor subtypes have key immunologic and genetic distinctions, and reports of patients with both AAG and MG are rare. We report a patient with antibody-confirmed AAG and elevated levels of ACh binding antibodies that did not meet clinical or electrodiagnostic criteria for MG. We presume that his skeletal muscle nAChR seropositivity was a false positive, perhaps due to the cross reactivity of the patient's ganglionic nAChR antibodies with skeletal nAChR subtypes. PMID:21745762

  20. TRACHEAL INTUBATION USING McGRATH VIDEO LARYNGOSCOPE IN MYASTHENIA GRAVIS PATIENTS

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    Venkata Sesha Sai Krishna

    2015-07-01

    Full Text Available BACKGROUND : Mc G rath video laryngoscope has been successfully used for managing difficult intubation in various clinical scenarios. In this case series, we aimed to evaluate the success rate and time taken to complete intubation without using muscle relaxants in myasthenia gravis patients coming for thymectomy. METHODS: We prospectively evaluate the use of Mcgrath video laryngoscope for intubation in ten myasthenia gravis patients coming for thymectomy. Intubation time, total time to complete tracheal intubation, laryngoscopic view (Cormack & Lehane grade, and patients tolerance of the procedure were recorded. RESULTS: The procedure was successful in all patients the mean (SD intubation time and total time to complete the tracheal intubation was 4.82 (0.53 and 10.21 (0.81 min, respectively. The laryngeal view was grade I in five and grade II in four patients. CONCLUSION: The Mcgrath Video Laryngoscope allowed a quicker intubation time, fewe r intubation attempts and greater ease of intubation in myasthenia gravis patients coming for thymectomy.

  1. The Anti-Acetylcholine Receptor Antibody Test in Suspected Ocular Myasthenia Gravis

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    Jung Jin Lee

    2014-01-01

    Full Text Available Aim. To estimate the clinical significance of anti-acetylcholine receptor antibody (anti-AChR-Ab levels in suspected ocular myasthenia gravis. Methods. In total, 144 patients complaining of fluctuating diplopia and ptosis were evaluated for serum levels of anti-acetylcholine receptor antibody and their medical charts were retrospectively reviewed. Subjects were classified into three groups: variable diplopia only, ptosis only, and both variable diplopia and ptosis. We investigated serum anti-AChR-Ab titer levels and performed thyroid autoantibody tests. Results. Patients’ chief complaints were diplopia (N=103, ptosis (N=12, and their concurrence (N=29. Abnormal anti-AChR-Ab was observed in 21 of 144 patients (14.1%. Between the three groups, mean age, number of seropositive patients, and mean anti-AChR-Ab level were not significantly different (P=0.224, 0.073, and 0.062, resp.. Overall, 27.5% of patients had abnormal thyroid autoantibodies. Conclusion. The sensitivity of anti-AChR-Ab was 14.1% in suspected ocular myasthenia gravis and seropositivity in myasthenia gravis patients showed a high correlation with the presence of thyroid autoantibodies.

  2. An acetylcholine receptor alpha subunit promoter confers intrathymic expression in transgenic mice. Implications for tolerance of a transgenic self-antigen and for autoreactivity in myasthenia gravis.

    OpenAIRE

    Salmon, A M; Bruand, C; Cardona, A; Changeux, J P; Berrih-Aknin, S.

    1998-01-01

    Myasthenia gravis (MG) is an autoimmune disease targeting the skeletal muscle acetylcholine receptor (AChR). Although the autoantigen is present in the thymus, it is not tolerated in MG patients. In addition, the nature of the cell bearing the autoantigen is controversial. To approach these questions, we used two lineages of transgenic mice in which the beta-galactosidase (beta-gal) gene is under the control of a 842-bp (Tg1) or a 3300-bp promoter fragment (Tg2) of the chick muscle alpha subu...

  3. Prioritizing genes of potential relevance to diseases affected by sex hormones: an example of Myasthenia Gravis

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    Taylor Stephen

    2008-10-01

    Full Text Available Abstract Background About 5% of western populations are afflicted by autoimmune diseases many of which are affected by sex hormones. Autoimmune diseases are complex and involve many genes. Identifying these disease-associated genes contributes to development of more effective therapies. Also, association studies frequently imply genomic regions that contain disease-associated genes but fall short of pinpointing these genes. The identification of disease-associated genes has always been challenging and to date there is no universal and effective method developed. Results We have developed a method to prioritize disease-associated genes for diseases affected strongly by sex hormones. Our method uses various types of information available for the genes, but no information that directly links genes with the disease. It generates a score for each of the considered genes and ranks genes based on that score. We illustrate our method on early-onset myasthenia gravis (MG using genes potentially controlled by estrogen and localized in a genomic segment (which contains the MHC and surrounding region strongly associated with MG. Based on the considered genomic segment 283 genes are ranked for their relevance to MG and responsiveness to estrogen. The top three ranked genes, HLA-G, TAP2 and HLA-DRB1, are implicated in autoimmune diseases, while TAP2 is associated with SNPs characteristic for MG. Within the top 35 prioritized genes our method identifies 90% of the 10 already known MG-associated genes from the considered region without using any information that directly links genes to MG. Among the top eight genes we identified HLA-G and TUBB as new candidates. We show that our ab-initio approach outperforms the other methods for prioritizing disease-associated genes. Conclusion We have developed a method to prioritize disease-associated genes under the potential control of sex hormones. We demonstrate the success of this method by prioritizing the genes

  4. Anesthetic Management of Direct Laryngoscopy and Dilatation of Subglottic Stenosis in a Patient with Severe Myasthenia Gravis

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    Hesham A. Elsharkawy

    2012-01-01

    Full Text Available We describe the anesthetic management of a patient with severe myasthenia gravis and tracheal stenosis; the patient was scheduled for direct laryngoscopy and dilatation. The combination of myasthenia gravis and tracheal obstruction presents several difficulties for anesthetic management. The airway is shared; therefore, any complications are also shared by the anesthesiologist and bronchoscopists. The potential for respiratory compromise in patients undergoing the two procedures requires that anesthesiologists be familiar with the underlying disease state, as well as the interaction of anesthetic and nonanesthetic drugs in a case involving myasthenia gravis. We reviewed the literature and report our experience in this case. There is no strong evidence for choosing one approach to general anesthesia over another for bronchoscopy. Careful preoperative planning and experience in airway management and jet ventilation are crucial to prevent an adverse outcome and obtain favorable results.

  5. Progressive Outer Retinal Necrosis and Immunosuppressive Therapy in Myasthenia Gravis

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    Solène Coisy

    2014-04-01

    Full Text Available Introduction: Progressive outer retinal necrosis (PORN is a rare but devastating infectious retinitis associated with varicella zoster virus (VZV and responsible for severe visual loss. Case Report: A 59-year-old man treated for generalized myasthenia with oral azathioprine and prednisone presented with severe unilateral necrotizing retinitis. Polymerase chain reaction of the aqueous and vitreous humors was diagnostic for VZV PORN. Conclusion: VZV PORN is a severe potential ocular complication of immunosuppression, prompting urgent diagnosis and appropriate treatment.

  6. Progressive Outer Retinal Necrosis and Immunosuppressive Therapy in Myasthenia Gravis

    OpenAIRE

    Coisy, Solène; Ebran, Jean-Marc; Milea, Dan

    2014-01-01

    Introduction Progressive outer retinal necrosis (PORN) is a rare but devastating infectious retinitis associated with varicella zoster virus (VZV) and responsible for severe visual loss. Case Report A 59-year-old man treated for generalized myasthenia with oral azathioprine and prednisone presented with severe unilateral necrotizing retinitis. Polymerase chain reaction of the aqueous and vitreous humors was diagnostic for VZV PORN. Conclusion VZV PORN is a severe potential ocular complication...

  7. Familial myasthenia gravis: report of four cases Miastenia grave familial: registro de quatro casos

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    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.Os autores registram dois pares de gêmeos com miastenia grave, pertencentes a duas famílias diferentes. Este é o único registro de miastenia familial durante os últimos 20 anos, num total de 145 pacientes examinados na Clínica Neurológica da FMUSP. Apesar do fato de a miastenia grave não ter características hereditárias, os aspectos peculiares dos quatro pacientes justificam o presente registro. Os dois pares de gêmeos nasceram de pais não miastênicos e sem consanguinidade. A doença iniciou-se no nascimento, evoluindo com ptose bilateral parcial da pálpebra superior precocemente em todos os pacientes. O curso da moléstia tem sido favorável. Não havia timoma.

  8. Effects of the ß2-Adrenoceptor Agonist, Albuterol, in a Mouse Model of Anti-MuSK Myasthenia Gravis

    OpenAIRE

    Nazanin Ghazanfari; Marco Morsch; Nigel Tse; Reddel, Stephen W.; Phillips, William D.

    2014-01-01

    The β2-adrenergic receptor agonist, albuterol, has been reported beneficial in treating several forms of congenital myasthenia. Here, for the first time, we examined the potential benefit of albuterol in a mouse model of anti-Muscle Specific Kinase (MuSK) myasthenia gravis. Mice received 15 daily injections of IgG from anti-MuSK positive patients, which resulted in whole-body weakness. At neuromuscular junctions in the tibialis anterior and diaphragm muscles the autoantibodies caused loss of ...

  9. The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis

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    Marcus Magnussen

    2015-01-01

    Full Text Available Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies. Yet, electrical myotonia in myasthenia gravis associated with antibodies against muscle-specific tyrosine kinase (MuSK has not been previously reported. We describe two such patients, both of whom had a typical presentation of proximal muscle weakness with respiratory failure in the context of a significant electrodecrement in repetitive nerve stimulation. In both cases, concentric needle examination revealed electrical myotonia combined with myopathic motor unit morphology and early recruitment. These findings suggest that MuSK myasthenia should be included within the differential diagnosis of disorders with electrical myotonia.

  10. Juvenile Myasthenia Gravis: A Report of Three Cases and Literature Review

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    Ünsal Yilmaz

    2014-03-01

    Full Text Available Aim: Juvenile myasthenia gravis accounts for 10% to 15% of all cases and it is even rarer in prepubertal children. Therefore, limited data are available on its presentation, diagnosis, treatment and outcome, particularly in younger children. Early diagnosis is imperative for delaying the progression of the disease, and prevention and adequately management the myasthenic crisis. Presence of acetylcholine receptor antibodies which occur only in half of prepubertal children wih myastenia helps in the diagnosis. Seronegative cases need to be distinguished from congenital forms which may present with similar symptoms. Material and Method: This article presents the initial presentation, clinical course, and 2-year follow-up results of 3 patients with juvenile myasthenia gravis, and reviewes the disease in general and current treatment modalities. Results: The ages at onset were 3, 4 and 7 years. The initial symptom was fluctuating pitosis in all cases. Acetylcholine receptor antibodies were below the normal range in the younger 2 patients, and became positive at 12th months of follow-up with a 2-fold increase. These 2 patients remained symptoms-free with pyridostigmine therapy during the 20-month follow-up period. In the remaining patient who had high antibody titers, symptoms progressed to involve other muscle groups at 10th months of follow-up period while receiving pyridostigmine. After lack of response to prednisolone trial, symptoms improved with azathioprine and monthly intravenous immunoglobulin therapy. Discussion: Juvenile myasthenia gravis in younger children with low acetylcholine receptor antibody titers follows a benign course. Acetylcholine receptor antibodies which were negative at onset, may become positive at 1-year of follow-up. Older children with high antibody titers at onset follow more aggressive disease course needing immunosuppressive therapy.

  11. Juvenile myasthenia

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    Knežević-Pogančev Marija

    2011-01-01

    Full Text Available Introduction. Juvenile myasthenia is a chronic autoimmune neuromuscular disease characterized by varying degrees of fluctuating, painless muscle weakness and rapid fatigue of any muscles under voluntary control. Juvenile myasthenia is a form of myasthenia appearing in adolescent age, representing 10% to 15% of all cases of myasthenia gravis. Juvenile myasthenia is presented by a defect in the transmission of nerve impulses to muscles, resulting from a breakdown in the normal communication between nerves and muscles. In myasthenia, antibodies produced by the body’s own immune system block, alter, or destroy the receptors for acetylcholine. Juvenile myasthenia is neither directly inherited nor is it contagious. Signs and Symptoms. The first noticeable symptoms may be eye muscle weakness, difficulty in swallowing, or slurred speech. Juvenile myasthenia usually affects muscles innervated by the cranial nerves (face, lips, tongue, neck and throat, but it can affect any muscle group. Symptoms vary in type and severity with typical periods of exacerbation interspersed with periods of remission. When the muscles necessary for breathing are affected, a patient is said to be in a myasthenic crisis, which is a life-threatening situation. Disease Outcome and Treatment. Juvenile myasthenia produces sporadic but progressive weakness and abnormal fatigability of striated (skeletal muscles, exacerbated by exercise and repeated movement, but improved by rest and anticholinesterase drugs. Juvenile myasthenia follows an unpredictable course of recurring exacerbations and periodic remissions. With current therapies, however, most cases of juvenile myasthenia are not as serious as the name implies. Although there is no known cure, drug treatment has improved prognosis and allows patients to lead relatively normal lives, except during exacerbations.

  12. Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis.

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    Ohno, Kinji; Ito, Mikako; Kawakami, Yu; Ohtsuka, Kenji

    2014-07-01

    Acetylcholinesterase (AChE) at the neuromuscular junction (NMJ) is anchored to the synaptic basal lamina via a triple helical collagen Q (ColQ) in the form of asymmetric AChE (AChE/ColQ). We exploited the proprietary NMJ-targeting signals of ColQ to treat congenital myasthenia and to explore the mechanisms of autoimmune myasthenia gravis (MG). Mutations in COLQ cause congenital endplate AChE deficiency (CEAD). First, a single intravenous administration of adeno-associated virus serotype 8 (AAV8)-COLQ to Colq−/− mice normalized motor functions, synaptic transmission, and partly the NMJ ultrastructure. Additionally, injection of purified recombinant AChE/ColQ protein complex into gluteus maximus accumulated AChE in non-injected forelimbs. Second, MuSK antibody-positive MG accounts for 5-15 % of MG. In vitro overlay of AChE/ColQ to muscle sections of Colq−/− mice, as well as in vitro plate-binding of MuSK to ColQ, revealed thatMuSK-IgG blocks binding of ColQ to MuSK in a dose-dependent manner. Passive transfer of MuSK-IgG to wild-type mice markedly reduced the size and intensity of ColQ signals at NMJs. MuSK-IgG thus interferes with binding of ColQ to MuSK. Elucidation of molecular mechanisms of specific binding of ColQ to NMJ enabled us to ameliorate devastating myasthenic symptoms of Colq−/− mice and also to reveal underlying mechanisms of anti-MuSK-MG. PMID:24234034

  13. Miastenia gravis congênita e oftalmoplegia externa Congenital myasthenia gravis and external ophthalmoplegia

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    Ana Tereza Ramos Moreira; Hilton Iran Ruthes; Silvane Bigolin

    2001-01-01

    A miastenia gravis é uma doença crônica, caracterizada por fatigabilidade anormal de músculos estriados, podendo acometer grupos musculares isolados ou tornar-se generalizada. Os autores descrevem um caso de miastenia gravis congênita generalizada e oftalmoplegia parcial em um paciente de 10 anos de idade, portador de sintomas sistêmicos motores e de ausência na adução, abdução e elevação em ambos os olhos e com ptose palpebral bilateral, sendo reduzida à função de infraversão. O paciente foi...

  14. Successful low-dose azathioprine for myasthenia gravis despite hepatopathy from primary sclerosing cholangitis: a case report

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    Höflich Sonja

    2010-11-01

    Full Text Available Abstract Introduction Although myasthenia gravis is frequently associated with other disorders, it has not been reported together with primary sclerosing cholangitis, complicating the administration of liver-toxic immunosuppressive therapy. Case presentation A 73-year-old Caucasian woman with a history of arterial hypertension, thyroid dysfunction, glaucoma, right-sided ptosis and later generalized weakness, was diagnosed with myasthenia gravis. Additionally, primary sclerosing cholangitis was detected, initially prohibiting the administration of immunosuppressants. Despite treatment with steroids and pyridostigmine she repeatedly experienced myasthenic crises. After the fifth crisis and after antibody titers had reached levels > 100 nmol/L during two years of follow-up, it was decided to restart azathioprine. Interestingly, low-dose azathioprine (1.5 mg/kg/day was well tolerated, had a positive clinical and immunological effect and did not worsen primary sclerosing cholangitis. Conclusion Myasthenia gravis may occur together with primary sclerosing cholangitis in the same patient. Mild immunosuppression with azathioprine is feasible and effective in such a patient, without worsening myasthenia gravis or primary sclerosing cholangitis.

  15. Clinical findings in MuSK-antibody positive myasthenia gravis: a U.S. experience.

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    Pasnoor, Mamatha; Wolfe, Gil I; Nations, Sharon; Trivedi, Jaya; Barohn, Richard J; Herbelin, Laura; McVey, April; Dimachkie, Mazen; Kissel, John; Walsh, Ronan; Amato, Anthony; Mozaffar, Tahseen; Hungs, Marcel; Chui, Luis; Goldstein, Jonathan; Novella, Steven; Burns, Ted; Phillips, Lawrence; Claussen, Gwendolyn; Young, Angela; Bertorini, Tulio; Oh, Shin

    2010-03-01

    We performed a retrospective chart review on 53 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients at nine university-based centers in the U.S. Of these, 66% were Caucasian, 85% were women, and age of onset was 9-79 years. Twenty-seven patients were nonresponsive to anticholinesterase therapy. Myasthenia Gravis Foundation of America improvement status was achieved in 53% patients on corticosteroids, 51% with plasma exchange, and in 20% on intravenous immunoglobulin (IVIG). Thymectomy was beneficial in 7/18 patients at 3 years. Long-term (> or =3 years) outcome was very favorable in 58% of patients who achieved remission and/or minimal manifestation status. Overall, 73% improved. There was one MG-related death. This survey reinforces several cardinal features of MuSK-Ab-positive MG, including prominent bulbar involvement and anticholinesterase nonresponsiveness. Facial or tongue atrophy was rare. Most patients respond favorably to immunotherapy. The best clinical response was to corticosteroids and plasma exchange, and the poorest response was to IVIG. Long-term outcome is favorable in about 60% of cases.

  16. Oral and parenteral pyridostigmine in preparing Myasthenia Gravis patients for thymectomy;a randomized Clinical trial

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    Tadjeddein A

    2007-06-01

    Full Text Available Background: Respiratory failure and crisis is one of major complications of thymectomy in myasthenia gravis patients. There are different medication regimes for preparing these patients for surgery and reducing post-operative side effects. The goal of this study is to compare respiratory complications of oral vs. Parenteral preoperative administration of anticholinesterase agents for thymectomy in myasthenia gravis patients. Methods: This randomized controlled trial included 101 patients in class IIA or IIB of myasthenia gravis according to the Osserman classification system. The control group fasted for eight hours before surgery and oral anticholines-terase agents were replaced with parenteral ones. The case group also fasted for 8 hours before surgery, but pyridostigmine was continued at its usual dose until the time of operation and the last dose was given to patients with a small amount of water in the operating room on the operating bed. Results: There was no statistically meaningful difference between the two groups in terms of age, sex and pathologic findings. In comparison, the mean hospital stay for the case group was 3.98 days and 6.34 for the control group (p value = 0.003. There were eight cases of respiratory crisis or failure (16% in the control group but only 1 case (2% was observed in case group (p value = 0.014. Only one patient in the case group required re-intubation after the surgery; however, six patients in control group were re-intubated (p value = 0.053. Plasmapheresis was required for five patients in the control group and one patient in the case group (p value = 0.098. Tracheostomy was performed on two patients in the control group to accommodate prolonged intubation, but none of the case group required this procedure. Conclusion: This study shows that continuing oral anticholinesterase agents up to the time of operation, with the last dose at the operative theater, lowers the incidence of post-operative myasthenia

  17. Myasthenia gravis in Ceará, Brazil: clinical and epidemiological aspects

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    Aline de Almeida Xavier Aguiar

    2010-12-01

    Full Text Available A retrospective chart review was performed on patients diagnosed as having myasthenia gravis in Ceará State, Brazil and who were followed from October 1981 to June 2009. Clinical and epidemiologic aspects were evaluated. In this work, 122 patients were studied, of whom 85 (69.7% were females and 37 (30.3% were males. The disease duration ranged from five months to 50 years (8.9±8.1 years. Age at the first symptoms varied from 0 to 74 years (31.9±14.4 years. The first main symptoms and signs were ptosis, diplopia and limb weakness. Generalized myasthenia was the most common clinical presentation, but 5.1% (n=6 persisted as ocular myasthenia. Thymectomy was performed in 42.6% (n=52 of myasthenic patients. A thymoma was present in 10 patients. Serum acetylcholine receptor (AChR antibodies were present in 80% (n=20 of specimens tested. The data presented are similar to those of studies performed in other countries.

  18. Dandy-Walker syndrome in adult mimicking myasthenia gravis Síndrome de Dandy-Walker em adulto simulando miastenia gravis

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    Juliana Cardoso; Lange, Marcos C.; Paulo J. Lorenzoni; Rosana H. Scola; Werneck, Lineu C.

    2007-01-01

    The Dandy-Walker syndrome (DWS) is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-year-old woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine rece...

  19. [Recent advance in research for myasthenia gravis, in relation to various antibodies affecting synaptic structure and function].

    Science.gov (United States)

    Takamori, Masaharu

    2009-11-01

    Autoantibodies impair acetylcholine receptor (AChR) in myasthenia gravis (MG) and P/Q-type voltage-gated calcium channel (VGCC) in Lambert-Eaton myasthenic syndrome (LEMS). (1) Some of MG and LEMS patients are "seronegative" for respective antibodies or modified by antibodies that recognize other proteins than AChR and VGCC such as MuSK, AChR allosteric site, membrane Na+ channel and ryanodine receptor-1 (RyR1) in MG, and synaptotagmin-1 in LEMS. (2) Autoimmune responses affect the proteins participating in the mechanisms to compensate for synaptic disorders on the basis of presynaptic Ca2+ homeostasis provided by VGCC and non-VGCC (receptor-operated TRPCs): they act as enhancers of Ca(2+) -mediated ACh release via phospholipase C signaling pathways including M1-type presynaptic muscarinic AChR, neurotrophin receptor (TrkB), and fast-mode of synaptic vesicle recycling. (3) The pathophysiology contributive to contractile fatigue in MG includes RyR1 and also TRPC3. The TRPC3 also forms a complex with STIM1 and Orail to make up for Ca2+ after sarcoplasmic Ca2+ release. The prevalent detection of anti-TRPC3 antibodies in MG with thymoma could affect muscle contractile machineries in addition to anti-RyR1-induced affection. (4) When one faces "seronegative" MG, one should be cautious to conformation-specific antibodies and also congenital myasthenic syndromes. PMID:20030211

  20. Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report

    Science.gov (United States)

    Fan, Rui; Ji, Ruirui; Zou, Wenxin; Wang, Guoliang; Wang, Hu; Penney, Daniel James; Luo, Jin Jun; Fan, Yuxin

    2016-01-01

    Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies. Laboratory results revealed hypokalemia and an elevated anti-AChR antibody expression levels. Electrocardiography demonstrated prolonged QT-interval, ST-elevation, and subsequent third-degree atrioventricular block. Neurological examination revealed bilateral ptosis, horizontal diplopia, dysarthria and generalized weakness. No mutations in the potassium channel inwardly rectifying subfamily J member 2 gene were detected in the present case. The patient was treated with oral potassium supplementation and an acetylcholinesterase inhibitor (pyridostigmine), after which the symptoms were improved. To the best of our knowledge, the present case report was the first to describe concomitant presentation of both ATS and MG, which represents a diagnostic and therapeutic challenge.

  1. Miastenia gravis análise de 90 casos tratados com timectomia myasthenia gravis

    OpenAIRE

    Almeida Fábio Henrique Souza; Okano Nelson; Vargas Eulógio Corrales; Ferreira-Santos Ruy; Sato Takassu; Barreira Amilton Antunes

    2000-01-01

    A Miastenia Gravis é uma doença auto-imune caracterizada por auto-anticorpos contra receptores nicotínicos de acetilcolina da placa neural. O tratamento clínico básico para as formas generalizadas é feito com drogas anticolenesterásicas, mas em algumas fases podem ser necessários outras modalidades de tratamento, tais como a corticoterapia e a plasmaferese. O tratamento cirúrgico, a timectomia, é uma forma de abordar a causa base da doença e tem resultados bastante encorajadores, visto que é ...

  2. Anestesia ambulatorial para radioterapia em paciente portador de miastenia gravis: relato de caso Anestesia ambulatorial para radioterapia en paciente portador de miastenia gravis: relato de caso Outpatient anesthesia for radiotherapy in a patient with myasthenia gravis: case report

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    Raquel Marcondes Bussolotti

    2006-08-01

    , 87 años, 87 kg, estado físico ASA III, con historial de miastenia gravis; accidente vascular encefálico previo (AVE; marcapaso por bloqueo atrio-ventricular total; hipertensión arterial sistémica (HAS. Fueron programadas siete sesiones de radioterapia de 20 minutos para tratamiento del tumor de parótida bajo anestesia general. En la sala de radioterapia fue monitorizado con cardioscopio, monitor de presión arterial no invasiva, oxímetro de pulso y sometido a anestesia general con propofol y sevoflurano. Después de la inducción, se mantuvo en ventilación espontánea con cánula de Guedel y catéter nasofaríngeo con O2 /sevoflurano, para acomodación de la máscara de inmovilización. En la sala de recuperación postanestésica, no presentó complicaciones. CONCLUSIONES: La elección de los anestésicos y el acompañamiento clínico de criterio permitieron la buena evolución del paciente, con AVE previo, cardiopata y anciano, sometido a la anestesia general balanceada para procedimiento de aplicación de radioterapia, en régimen ambulatorial.BACKGROUND AND OBJECTIVES: Myasthenia Gravis (MG is a rare autoimmune disease, characterized by the reduction in the number of nicotinic receptors in the neuromuscular junction, with an incidence of 14/100,000. The objective of this report is to describe the case of a patient with myasthenia gravis who underwent balanced general anesthesia for radiotherapy of a spinocellular carcinoma of the parotid gland as an outpatient. CASE REPORT: Male patient, 87 years old, 87 kg, physical status ASA III, with a prior history of myasthenia gravis; stroke; pacemaker for a third-degree AV block; and hypertension. He was scheduled for seven 20-minutes radiotherapy sessions under general anesthesia. In the radiotherapy room he was monitored with a cardioscope, noninvasive blood pressure, pulse oxymeter, and underwent general anesthesia with propofol and sevoflurane. After the induction, he maintained spontaneous ventilation with a

  3. Frequency of myasthenia gravis in multiple sclerosis: Report of five cases from Isfahan, Iran

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    Basiri Keivan

    2009-12-01

    Full Text Available This study was designed to determine the frequency and clinical characteristics of myasthenia gravis (MG in a large cohort of Persian patients with multiple sclerosis (MS living in the province of Isfahan. We reviewed the case records of patients with definite MS (McDonald′s criteria registered in the Isfahan MS Society (IMSS for associated MG. Of the 1,718 patients with MS in the registry, six patients were found to have both MS and MG. The prevalence after excluding one patient with insufficient data, was 291 per 100,000 (0.29%, a higher prevalence than the earlier reports. These results may support the hypothesis that MS and MG share some common immunopathogenic mechanisms.

  4. Haptoglobin study in myasthenia gravis Estudo sobre a haptoglobina na miastenia grave

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    Leonardo H. Mendonça Oliveira

    2008-06-01

    Full Text Available OBJECTIVE: A cross-sectional study of haptoglobin (Hp in myasthenia gravis (MG was designed, with the objective to identify its values and correlate them with different disease status. METHOD: 46 patients were enrolled in the study, all having disease severity established according to the quantitative myasthenia gravis strength scores (QMGSS. Based on the functional scale determined by Myasthenia Gravis Foundation of America (MGFA recommendations, patients were classified as having: complete stable remission (CSR; n=10; minimal manifestations-0 (MM0; n=6, minimal manifestations-1 (MM1; n=4; pharmacological remission (PR; n=6. Two other groups participated: thymomatous patients (T; n=10 and patients without imunosuppression or thymectomy, until the assessment for Hp (WIT; n=10. Hp dosage was done by immunonephelometry, blindly to clinical data. Student's t-test, Anova test and linear regression were employed for statistical analyses. RESULTS: Statistically significant differences occurred between CSR+MM0xWIT groups (86.62x157.57, pOBJECTIVO: Desenhou-se estudo transversal sobre a haptoglobina (Hp na miastenia grave (MG com o objetivo de identificar seus valores e correlacioná-los a diferentes condições na doença. MÉTODO: 46 pacientes foram incluídos, todos tendo a gravidade da doença estabelecida segundo escores internacionais (QMGSS. Os pacientes tiveram seu estado funcional determinado de acordo com a Myasthenia Gravis Foundation of América (MGFA e classificados em: remissão completa estável (CSR; n=10; mínima manifestação-0 (MM0; n=6, mínima manifestação-1 (MM1; n=4; remissão farmacológica (PR; n=6. Dois outros grupos participaram: pacientes timomatosos (T; n=10 e pacientes sem imunossupressão ou timectomia, até o momento da inclusão no estudo (WIT; n=10. A dosagem de Hp foi realizada por imunonefelometria, de modo cego quanto à clínica. As análises estatísticas incluíram o teste de Student, Anova e regressão linear

  5. Miastenia grave: aspectos históricos Myasthenia gravis: historical aspects

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    FRANCISCO MARCOS B. CUNHA

    1999-06-01

    Full Text Available Foram pesquisados aspectos históricos da miastenia grave desde as primeiras descrições da doença em 1672, pelo clínico inglês Thomas Willis. São descritas as dificuldades encontradas no manuseio dos primeiros pacientes diagnosticados. Pesquisaram-se fatos históricos ligados à investigação da doença, o tratamento, bem como curiosidades pouco citadas na literatura.We studied historical aspects of myasthenia gravis starting from its first description by the English physician, Sir Thomas Willis, in 1672. We also describe the difficulties in managing triating the first diagnosed patient. Historical facts related to the investigation and the initial treatment of this disorder as well as curiosities seldom mentioned in the literature are part of this paper.

  6. Failure of treatment of myasthenia gravis by cyclosporin-A: a case report

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    Paulo E. Marchiori

    1989-03-01

    Full Text Available Recently, cyclosporin-A (Cy-A has been used in the treatment oy myasthenia gravis (MG. This drug could be employed in some patients refractory to classic treatments or that develop undesirable side effects. It is reported the case of a 22 year-old woman with generalized and severe MG, and diabetes mellitus. She had been submitted to thymectomy and reoperated, to the classic ethiopathogenic methods of therapy, and to total body irradiation. No therapeutical results were observed. Also, she developed transient and slow bone marrow depression, and liver dysfunction. Owing to these limitations and to the absence of response to treatments mentioned, Cy-A use was attempted in this case. Unfortunately, Cy-A did not influence the myasthenic symptomatology. Cy-A also failed in suppressing anti-AChR production, which increased during Cy-A therapy. Results observed in this case are in disagreement with literature data on the subject.

  7. The psychosocial impact of ptosis as a symptom of Myasthenia Gravis: a qualitative study.

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    Richards, Hollie Sarah; Jenkinson, Elizabeth; Rumsey, Nichola; Harrad, Richard A

    2014-08-01

    The aim of this qualitative study was to investigate the psychosocial impact of ptosis as a symptom of Myasthenia Gravis (MG). Participants were recruited from a MG patient group on Facebook. 166 participants answered a series of open ended questions examining the impact of ptosis, and responses were analysed using Inductive Thematic Analysis, which revealed four main themes. The first highlighted the extent to which ptosis impacted negatively on psychosocial functioning. The second related to ways in which ptosis can be framed in a positive way, eg, as a believable symptom. The final two themes revealed the complex inter-relationships between functional and appearance-related impacts, and a desire from many participants for health care professionals to provide more support directly related to their ptosis. This study suggests that ptosis impacts in ways not currently recognized in literature and practice. PMID:24832459

  8. Patients with ocular symptoms referred for electrodiagnosis: how many of them suffer from myasthenia gravis?

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    Zambelis, Th; Pappas, V; Kokotis, P; Zouvelou, V; Karandreas, N

    2015-12-01

    The aim of this study was the diagnosis of patients with isolated ocular manifestations (ptosis and/or diplopia) referred for electrophysiological evaluation to the electrodiagnostic laboratory of a University Neurological Department. Examination was performed either in inpatient status or in outpatient basis. We analyzed the clinical, electrophysiological and other laboratory data in 79 subjects. Myasthenia gravis (MG) was diagnosed in 38 %, 45.6 % in other diseases (Graves disease, blepharospasm, IIId cranial verve palsy, multiple sclerosis, stroke, etc.), while in 16.5 %, the cause remained unidentified. Symptoms fluctuation was significantly more frequent in the myasthenic patients, compared to patients with other diseases. The presence of both diplopia and ptosis are more likely due to MG rather than other pathology.

  9. Miastenia gravis análise de 90 casos tratados com timectomia myasthenia gravis

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    Almeida Fábio Henrique Souza

    2000-01-01

    Full Text Available A Miastenia Gravis é uma doença auto-imune caracterizada por auto-anticorpos contra receptores nicotínicos de acetilcolina da placa neural. O tratamento clínico básico para as formas generalizadas é feito com drogas anticolenesterásicas, mas em algumas fases podem ser necessários outras modalidades de tratamento, tais como a corticoterapia e a plasmaferese. O tratamento cirúrgico, a timectomia, é uma forma de abordar a causa base da doença e tem resultados bastante encorajadores, visto que é atribuída ao timo a produção dos auto-anticorpos. Apresentamos neste trabalho o quadro clínico, os resultados cirúrgicos e as alteração anátomo-patológicas dos 90 casos estudados.

  10. Selective response to rituximab in a young child with MuSK-associated myasthenia gravis.

    Science.gov (United States)

    Govindarajan, Raghav; Iyadurai, Stanley J; Connolly, Anne; Zaidman, Craig

    2015-08-01

    Neuromuscular junction disorders in children are either genetic, such as congenital myasthenic syndrome, or autoimmune with circulating antibodies most commonly against acetylcholine receptors. There is limited experience recognizing and treating children with myasthenia associated with muscle-specific tyrosine kinase antibodies. We report a seven-year-old child with intermittent esotropia since age 3 months, and two years of progressive and severe diplopia, dysarthria, dysphagia, and facial weakness. Acetylcholine receptor antibodies and genetic testing for congenital myasthenic syndrome were negative. Muscle specific tyrosine kinase antibodies were significantly elevated. Ophthalmoplegia and bulbar weakness were refractory to treatment with acetylcholinesterase inhibitors, corticosteroids and IVIg but completely resolved following treatment with rituximab. Her neurologic examination remained normal at the most recent follow-up, 15 months after initiation of rituximab. Children with MuSK myasthenia, like adults, can respond to rituximab despite long standing disease and failure to improve on other immunosuppressant medications. PMID:25998611

  11. Altered active zones, vesicle pools, nerve terminal conductivity, and morphology during experimental MuSK myasthenia gravis.

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    Vishwendra Patel

    Full Text Available Recent studies demonstrate reduced motor-nerve function during autoimmune muscle-specific tyrosine kinase (MuSK myasthenia gravis (MG. To further understand the basis of motor-nerve dysfunction during MuSK-MG, we immunized female C57/B6 mice with purified rat MuSK ectodomain. Nerve-muscle preparations were dissected and neuromuscular junctions (NMJs studied electrophysiologically, morphologically, and biochemically. While all mice produced antibodies to MuSK, only 40% developed respiratory muscle weakness. In vitro study of respiratory nerve-muscle preparations isolated from these affected mice revealed that 78% of NMJs produced endplate currents (EPCs with significantly reduced quantal content, although potentiation and depression at 50 Hz remained qualitatively normal. EPC and mEPC amplitude variability indicated significantly reduced number of vesicle-release sites (active zones and reduced probability of vesicle release. The readily releasable vesicle pool size and the frequency of large amplitude mEPCs also declined. The remaining NMJs had intermittent (4% or complete (18% failure of neurotransmitter release in response to 50 Hz nerve stimulation, presumably due to blocked action potential entry into the nerve terminal, which may arise from nerve terminal swelling and thinning. Since MuSK-MG-affected muscles do not express the AChR γ subunit, the observed prolongation of EPC decay time was not due to inactivity-induced expression of embryonic acetylcholine receptor, but rather to reduced catalytic activity of acetylcholinesterase. Muscle protein levels of MuSK did not change. These findings provide novel insight into the pathophysiology of autoimmune MuSK-MG.

  12. Quality of life and life circumstances in German myasthenia gravis patients

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    Pöhlau Dieter

    2010-11-01

    Full Text Available Abstract Background Myasthenia gravis (MG is a chronic neuromuscular disease. Advances in medical therapy have continuously increased the life expectancy of MG patients, without definitively curing the disease. To analyze life circumstances and quality of life (QoL, a large German MG cohort was investigated. Methods and Sample In cooperation with the German Myasthenia Association, 2,150 patients with confirmed MG were asked to respond to a mailed questionnaire. The standardized questions related to demographic data, impairments, therapeutic course, use of complementary therapies, illness-related costs, and quality of life (SF-36. In total, 1,518 patients participated, yielding a response rate of 70.6%. The average age was 56.7 years, and the proportion of females 58.6%. Results Despite receiving recommended therapy, many patients still suffered from MG-related impairments. In particular, mobility and mental well-being were reduced; moreover, quality of life was markedly reduced. Stepwise linear regression analysis revealed illness stability, impairments, mental conditions, comorbid diseases, and employment to be determinants of QoL. Conclusion Results indicate that despite prolonged life expectancy among MG patients, health-related quality of life is low. This outcome resulted mainly from impaired mobility and depression. Physical and mental well-being might be improved by additional therapy options. Additionally, health care resources could be used more efficiently in these patients.

  13. Clinical Outcomes of Myasthenia Gravis with Thymoma and Thymic Hyperplasia Undergoing Extended Transsternal Thymectomy: A Single-Center Experience

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    Surena Nazarbaghi; Mohammad Reza Amiri-Nikpour; Rahim Mahmodlou; Nasim Arjmand; Yousef Rezaei

    2015-01-01

    Background: Despite the widespread use of thymectomy in myasthenia gravis (MG) patients, it has remained controversial as to whether this procedure is of a similar efficacy and clinical outcome among MG patients with thymoma and thymic hyperplasia. Aim: We sought to determine the long-term clinical outcomes of MG patients who received extended transsternal thymectomy associated with pyridostigmine and prednisolone postoperatively. Materials and Methods: In a retrospective study from January 1...

  14. Brazilian cross-cultural translation and adaptation of the "Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items"

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    Aline Mansueto Mourao; Caroline Martins Araujo; Luiz Sergio Mageste Barbosa; Rodrigo Santiago Gomez; Burns, Ted M.; Stela Maris Aguiar Lemos; Antonio Lucio Teixeira

    2013-01-01

    Objective To translate and to perform the cross-cultural adaptation of the “Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items” (MG-QOL15). Method The original English version of the questionnaire was translated into Portuguese. This version was revised and translated back into English. Later, both English versions were compared and the divergences were corrected in the Portuguese text. At a second stage, ten patients with MG followed at the Neuromuscular Diseases Clini...

  15. Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK

    OpenAIRE

    Vuslat Yilmaz; Piraye Oflazer; Fikret Aysal; Hacer Durmus; Kostas Poulas; Yentur, Sibel P.; Yesim Gulsen-Parman; Socrates Tzartos; Alexander Marx; Erdem Tuzun; Feza Deymeer; Güher Saruhan-Direskeneli

    2015-01-01

    Neuromuscular transmission failure in myasthenia gravis (MG) is most commonly elicited by autoantibodies (ab) to the acetylcholine receptor or the muscle-specific kinase, constituting AChR-MG and MuSK-MG. It is controversial whether these MG subtypes arise through different T helper (Th) 1, Th2 or Th17 polarized immune reactions and how these reactions are blunted by immunosuppression. To address these questions, plasma levels of cytokines related to various Th subtypes were determined in pat...

  16. Myasthenia gravis

    Science.gov (United States)

    ... Fenichel GM, Jankovic J, Mazziotta JC, eds. Bradley’s Neurology in Clinical Practice . 6th ed. Philadelphia, PA: Elsevier ... 1/2015 Updated by: Daniel Kantor, MD, Kantor Neurology, Coconut Creek, FL, and Immediate Past President of ...

  17. Doença de Castleman associada a sarcoma de células dendríticas foliculares e miastenia gravis Castleman's disease associated with follicular dendritic cell sarcoma and myasthenia gravis

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    Fernando Luiz Westphal

    2010-12-01

    Full Text Available A doença de Castleman é um distúrbio linfoproliferativo atípico, de etiologia desconhecida, que pode estar associada a uma série de condições clínicas, inclusive doenças de caráter autoimune e neoplasias malignas. No presente relato, uma paciente de 72 anos foi encaminhada ao serviço de cirurgia torácica do Hospital Universitário Getúlio Vargas, localizado na cidade de Manaus (AM para a ressecção de um tumor de mediastino posterior. Três meses antes, havia sido internada em UTI com um quadro de dispneia intensa, ocasião na qual foi diagnosticada miastenia gravis. Após a ressecção da massa mediastinal, a análise histopatológica revelou doença de Castleman hialino-vascular complicada por sarcoma de células dendríticas foliculares. Até o momento da redação deste estudo, a paciente utilizava um anticolinesterásico e corticoides para o controle da miastenia gravis.Castleman's disease is an atypical lymphoproliferative disorder of unknown etiology, which might be associated with various clinical conditions, including autoimmune diseases and malignant neoplasms. We report the case of a 72-year-old female patient who was referred to the thoracic surgery department of Getúlio Vargas University Hospital, in the city of Manaus, Brazil, for the resection of a posterior mediastinal tumor. Three months prior, the patient had been admitted to the ICU with signs of severe dyspnea, at which time she was diagnosed with myasthenia gravis. After the resection of the mediastinal tumor, the histopathological examination revealed hyaline vascular-type Castleman's disease, complicated by follicular dendritic cell sarcoma. At this writing, the patient was being treated with an anticholinesterase agent and corticosteroids for the control of myasthenia gravis.

  18. Ocular myasthenia gravis: treatment successes and failures in patients with long-term follow-up.

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    Kupersmith, Mark J

    2009-08-01

    We previously reported that prednisone reduced the frequency of generalized myasthenia (GMG) and controlled diplopia without major adverse effects at 2 years in patients with ocular myasthenia gravis (OMG). Questions remain as to whether study subjects had long-standing disease, biasing results towards a steroid benefit, and if prednisone merely delayed GMG onset. Here, we performed a record review of a referral neuro-ophthalmology service OMG database for patients who were followed-up for > or =4 years or until GMG developed. We studied the effect of prednisone on GMG incidence and control of ocular symptoms. Generally, patients with diplopia were recommended for prednisone therapy. Most remained on daily 2.5-10 mg for diplopia control. We compared the results for prednisone-treated and "untreated" (pyridostigmine only) patients. Of 87 patients, 55 were in the prednisone-treated and 32 were in the untreated groups. GMG developed in 7 (13%) of the prednisone-treated (OR 0.41; 95% CI 0.22-0.76) and in 16 (50%) of the untreated (OR 2.78; 95% CI 1.68-4.60) patients. After OMG onset, GMG developed at a mean 5.8 and 0.22 years in prednisone and untreated groups. Diplopia was present at the last exam in 27% of the prednisone-treated (mean 7.2 years) and in 57% of the untreated (mean 4.6 years) OMG patients. For 48 prednisone-treated patients who did not develop GMG, OMG treatment failure occurred in 13. Thus, prednisone delays the onset of GMG and has sustained benefit in reducing the incidence of GMG and controlling diplopia. Without prednisone, GMG develops in 50% of OMG patients, typically within 1 year. PMID:19377863

  19. Clinical manifestation and humoral immuno-function of myasthenia gravis patients with abnormal and normal thymus gland

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    Fuhua Peng; Yongqiang Dai; Wei Qiu; Xueqiang Hu

    2006-01-01

    BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease which mainly affects neuromuscular junctions. The ages, modified Osserman classification and clinical manifestation and humoral immunol function of MG with and without thymic abnormality are different.OBJECTIVE: To explore the clinical manifestation and humoral immuno-function of MG with abnormal and normal thymus gland.DESIGN: Contrast observation.SETTING: Department of Neurology, the Third Affiliated Hospital of Sun Yat-sen University.PARTICIPANTS: A total of 49 inpatients with MG were selected from the Third Affiliated Hospital of Sun Yat-sen University from March 2000 to August 2005. All the patients had typical clinical manifestation of MG and positive neostigmine test. All the patients knew and agreed the laboratory examinations. There were 22 males and 27 females of 2-69 years old. Chest MRI or CT scan were performed to reveal thymus gland abnormality. According to whether there was tumor in superior mediastinum, all patients were divided into 2 groups, abnormal and normal groups. Normal thymus gland group (n=30) contained 16 males and 14 famales of 6-43 years old. Abnormal thymus gland group (n=19) contained 6 male and 13 female of 2-69years old.METHODS: ① All patients were questioned about initial symptoms. Meanwhile, main clinical manifestations were recorded at hospital admission. ② 7180A automatic biochemical analyzer and automatic microplate reader were used in detecting seroimmunity index. The levels of C3, C4, IgG, IgA, IgM and CH50 in blood serum were analyzed by nephelometry. ③ Clinical classification is based on modified Osserman classification. The patients with MG were divided into six types: Ⅰ (Ocular myasthenia), Ⅱ a (Mild generalized myasthenia), Ⅱ b (Moderately severe generalized myasthenia), Ⅲ (Acute fulminating myasthenia), Ⅳ (Late severe myasthenia).MAIN OUTCOME MEASURES: ① Differences of initial symptoms and clinical manifestation of two group patients.

  20. Diagnostico y tratamiento de la myasthenia gravis estudio de una poblacion hospitalaria

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    Roberto D. Rey

    1990-09-01

    Full Text Available Durante la observacion de 50 pacientes con Myasthenia gravis entre los anos 1974 y 1987 se encontro un predominio del sexo femenino en la proporcion de 2,5 a 1 y mayor frecuencia de presentacion en Ias 3ª y 5ª décadas de la vida. Luego de la evaluacion clínica, el diagnóstico fué confirmado mediante: (1 prueba dei edrofonio, (2 estímulo nervioso repetitivo, (3 dosaje de anticuerpos antirreceptor colinérgico y (4 transferencia pasiva del suero al raton con ulterior niedicion de la amplitud de mepp's. La positividad diagnostica vario entre el 90 y el 100%, segun el tipo de prueba empleada. El estúdio radiológico del timo fué hecho con neumomediastinografía. obteniendose excelente correlación con la descripcion histológica de la glândula, y con tomografia computada, que demostro menor eficiência diagnostica. El tratamiento fué implementado en base a anticolinesterásicos, timectomía y corticoterapia inmunosupresora, evidenciandose con esta última mejores resultados. Nueve pacientes desarrollaron peoria transitória del cuadro muscular al iniciarse el tratamiento esteroideo, 6 de ellos exhibieron posteriormente evolucion desfavorable. Esta observacion aparenta tener valor pronóstico en la evolucion de la MG.

  1. CT-guided percutaneous thymus microwave radiation and local injection of dexamethasone for myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    WANG Pei-jun; YANG Ji-jin; L(U) Tao-zhen; TU Lai-hui; ZUO Chang-jing; ZHANG Ren-qin; CHEN Wei; SHAO Cheng-wei; WANG Min-jie; LIU Dong-ming

    2001-01-01

    Objective: To develop an effective therapy for myasthenia gravis (MG) with little traumatic injury and low morCT-guided percutaneous thymus paracentesis via the upper margin of the sternum incisure and with local dexamethasone injection. Results: The symptoms and signs were relieved within 3 d of treatment in all the 13 MG patients; three had immediate response to the treatment with improved myodynamia. A 3-year follow-up study showed that the symptoms and signs improved significantly in 10 patients and turned for the better in 3. The size of the thymus reduced vertically, transversely and anteroposteriorly by 24.2%, 31.7% and 34.1% respectively. Low-density areas were seen in the thymus due to water gasification and coagulation necrosis of the thymus tissue. Conclusion: The technique has definite therapeutic effect on MG with advantages of easy manipulation, quick response and low morbidity. It is suitable for MG patients with hyperplasia or thymoma, and those who are unwilling to receive thymectomy, or whose thymoma is not resectable, or those who have poor response to radiotherapy.

  2. Effect of Gender, Disease Duration and Treatment on Muscle Strength in Myasthenia Gravis

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    Citirak, Gülsenay; Cejvanovic, Sanja; Andersen, Henning; Vissing, John

    2016-01-01

    Introduction The aim of this observational, cross-sectional study was to quantify the potential presence of muscle weakness among patients with generalized myasthenia gravis (gMG). The influence of gender, treatment intensity and disease duration on muscle strength and disease progression was also assessed. Methods Muscle strength was tested in 8 muscle groups by manual muscle testing and by hand-held dynamometry in 107 patients with gMG and 89 healthy age- and gender-matched controls. Disease duration, severity and treatment history were reviewed and compared with muscle strength. Results Patients had reduced strength in all tested muscle group compared to control subjects (p<0.05). Women with gMG were stronger than men (decrease in strength 22.6% vs. 32.7% in men, P<0.05). Regional differences in muscle weakness were also evident, with proximal muscles being more affected. Interestingly, muscle strength did not correlate with disease duration and treatment intensity. Conclusions The results of this study show that in patients with gMG; 1) there is significant muscle weakness, 2) muscle weakness is more pronounced in men than women, 3) shoulder abductors, hip flexors, and neck muscles are the most affected muscle groups and 4) disease duration or treatment intensity alone are not predictors of loss of muscle strength in gMG. PMID:27741232

  3. Thymic lesions and myasthenia gravis. Diagnosis based on mediastinal imaging and pathological findings

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    Pirronti, T.; Rinaldi, P.; Marano, P. [Univ. Cattolica del S. Cuore, Roma (Italy). Inst. of Radiology; Batocchi, A.P.; Evoli, A.; Di Schino, C. [Univ. Cattolica del S. Cuore, Roma (Italy). Inst. of Neurology

    2002-07-01

    Purpose: To achieve a better understanding of the role of CT and MR imaging in the study of the mediastinum in patients with myasthenia gravis (MG). Material and Methods: Mediastinal CT and MR findings were correlated with the histopathological results in 104 thymectomized MG patients. Results: CT was performed in 104 patients; in 11 of them, MR was also carried out. 44 patients had hyperplasia at histology. On CT, thymic hyperplasia was confirmed in 16 cases, thymoma was diagnosed in 10 and a normal thymus in 18 (sensitivity 36%, specificity 95%). Of 52 patients with thymoma at histology, CT showed thymoma in 46, hyperplasia in 1, and normal thymus in 5. CT showed 88.5% sensitivity and 77% specificity for thymoma. In 10 patients with invasive thymoma, CT was indiscriminate, while invasiveness was detected in 7 cases at MR (70% sensitivity) and at CT in 1 case. Both CT and MR detected tumor recurrence in 5 cases, but the exact localization and degree of invasion were best defined by MR. Conclusion: In MG patients CT is a sensitive, specific and efficient modality for detecting thymoma, but is less so for detecting thymic hyperplasia. MR was shown to be accurate in detecting invasive thymoma both preoperatively and in postoperative follow-up.

  4. A reliability study of impairment and disability scales for myasthenia gravis patients.

    Science.gov (United States)

    Romani, Alfredo; Piccolo, Giovanni; Bergamaschi, Roberto; Versino, Maurizio; Cosi, Vittorio

    2002-01-01

    The authors developed two scales to be adopted for the evaluation of myasthenia gravis (MG) patients. The first scale (MG impairment scale) is based on objective patient evaluation and on patients' responses to standardized questions relating to the functioning of specific muscle groups. It consists of 13 items exploring strength and 10 items exploring fatigability. The second scale (MG disability scale) evaluates disability in those everyday activities that are often impaired in MG patients. Test-retest reliability of each item and of the global score (sum of single item scores) was assessed by the weighted K statistic and by the intraclass correlation coefficient. Reliability was invariably 'substantial', and for single items 'almost perfect' for the MG impairment scale, and invariably 'almost perfect' for the MG disability scale. The internal structure of the MG impairment scale was explored by means of the principal component analysis. This analysis resulted in three main (rotated) factors, which loaded respectively onto 'ocular', 'spinal' and 'bulbar' functions. For these factors, we report factor score coefficients that can be used to compute single patients' scores, which in turn may be used in further analyses, particularly for follow-up studies. We also report the results of an analysis of the correlations between the two scales. The MG impairment and the MG disability scales are proposed for application in both clinical and research settings. PMID:12549719

  5. Rare association of thymoma, myasthenia gravis and sarcoidosis : a case report

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    Kurukumbi Mohankumar

    2008-07-01

    Full Text Available Abstract Introduction The association of thymoma with myasthenia gravis (MG is well known. Thymoma with sarcoidosis however, is very rare. We presented an interesting case with coexisting thymoma, MG and sarcoidosis. Case presentation A 59-year-old female patient with a history of sarcoidosis was admitted to the hospital with a one-day history of sudden onset of right-sided partial ptosis and diplopia. Neurosarcoidosis with cranial nerve involvement was considered, but was ruled out by the clinical findings, and MG was confirmed by the positive tensilon test, electrophysiological findings and positive acetylcholine receptor binding antibodies. On further evaluation, a CT chest scan showed a left anterior mediastinal mass and bilateral lymphadenopathy. Post surgical diagnosis confirmed the thymoma and sarcoidosis in the lymph nodes. Conclusion When two or more diseases of undetermined origin are found together, several interesting questions are raised. It is important to first confirm the diagnoses individually. Immunologic mechanisms triggering the occurrence of these diagnoses together, are difficult to address. Although the coexistence of thymoma, MG and sarcoidosis may be coincidental, it is noteworthy to report this case because of the multiple interesting features observed as well as the rarity of occurrence.

  6. Intravenous flurbiprofen for post-thymectomy pain relief in patients with myasthenia gravis

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    Su Chunhua

    2012-09-01

    Full Text Available Abstract Background Post-thymectomy pain in myasthenia gravis (MG patients can inhibit breathing and coughing. Inappropriate usage of analgesics may exacerbate respiratory inhibition and even cause myasthenic crisis. Flurbiprofen is a non-steroidal anti-inflammatory drug (NSAID that is commonly used to control moderate postoperative pain and is not associated with respiratory inhibition. We hypothesized that flurbiprofen may provide post-thymectomy pain relief without increasing the risk of complications in MG patients. Methods Two hundred MG patients underwent extended thymectomy from March 2006 to December 2010 and were randomly allocated to a flurbiprofen group (110 patients, 50 mg intravenous flurbiprofen axetil or a control group (90 patients, 100 mg intramuscular tramadol as postoperative analgesia. Visual analog scale (VAS pain score, heart rate, blood pressure, respiratory rate, pulse oximetry (SpO2, and adverse effects were recorded before and up to 24 h after drug administration. Results There were no significant differences in the preoperative clinical characteristics of the flurbiprofen and control (tramadol groups. Both flurbiprofen and tramadol significantly alleviated post-thymectomy pain (p p 2 in either group at all time points. Conclusions Post-thymectomy intravenous administration of flurbiprofen axetil provides safe and effective analgesia for MG patients.

  7. Association between myasthenia gravis and cognitive function: A systematic review and meta-analysis

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    Zhifeng Mao

    2015-01-01

    Full Text Available The course of myasthenia gravis (MG is complicated by increased reports of cognitive defects in both human and animal models, which suggests potential central nervous system (CNS damage. We conducted a systematic review of the relationships between MG and cognitive function. This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA guidelines. Major databases were searched to examine the neuropsychological studies of adults with MG. Weighted effect sizes were pooled by cognitive domain. Eight studies representing 300 subjects were included. Eight cognitive domain categories were identified: (i Mini-Mental State Examination (MMSE, (ii language, (iii processing speed, (iv verbal learning and memory, (v visual learning and memory, (vi attention span, (vii response fluency, and (viii motor performance. Nine (cognitive domain categories, MMSE, language, processing speed, verbal learning and memory (except for delayed recall memory, and motor performance of 16 cognitive tasks revealed significant moderate effect sizes. Verbal logical-delayed memory, finger tapping with the preferred hand, and the Symbol Digit Modalities Test showed a greater magnitude relationship to cognitive function than did other specific cognitive domains. Verbal learning and memory seems to be the most significant affected according to cognitive domain categories. For MG, the ability of attention, response fluency, visual learning, and memory seems to be reserved. The MG patients seem to perform significantly worse than the non-MG controls in a range of cognitive domains. Our findings should be interpreted with caution because of the clinical and methodological heterogeneity of included studies.

  8. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis.

    Science.gov (United States)

    Ohno, Kinji; Ito, Mikako; Kawakami, Yu; Krejci, Eric; Engel, Andrew G

    2013-03-25

    Acetylcholinesterase (AChE) at the neuromuscular junction (NMJ) is anchored to the synaptic basal lamina via a triple helical collagen Q (ColQ) in the form of asymmetric AChE (AChE/ColQ). The C-terminal domain of ColQ binds to MuSK, the muscle-specific receptor tyrosine kinase, that mediates a signal for acetylcholine receptor (AChR) clustering at the NMJ. ColQ also binds to heparan sulfate proteoglycans including perlecan. Congenital defects of ColQ cause endplate AChE deficiency. A single intravenous administration of adeno-associated virus serotype 8 (AAV8)-COLQ to Colq-/- mice rescued motor functions, synaptic transmission, and the ultrastructure of NMJ. We also injected AAV1-COLQ-IRES-EGFP to the left tibialis anterior and observed colocalization of AChE/ColQ at all the examined NMJs of the non-injected limbs. Additionally, injection of purified recombinant AChE/ColQ protein complex into gluteus maximus accumulated AChE in non-injected forelimbs. These observations suggest that the tissue-targeting signal of ColQ can be exploited to specifically deliver the transgene product to the target tissue. MuSK antibody-positive myasthenia gravis (MG) accounts for 5-15% of autoimmune MG. As AChR deficiency is typically mild and as cholinesterase inhibitors are generally ineffective or worsen myasthenic symptoms, we asked if the patient's MuSK-IgG interferes with binding of ColQ to MuSK. In vitro overlay of AChE/ColQ to muscle sections of Colq-/- mice revealed that MuSK-IgG blocks binding of ColQ to the NMJ. In vitro plate-binding of MuSK to ColQ disclosed that MuSK-IgG exerts a dose-dependent block of MuSK-ColQ interaction. In addition, passive transfer of MuSK-IgG to mice reduced the size and density of ColQ to ∼10% of controls and had a lesser effect on the sizes and densities of AChR and MuSK. Elucidation of molecular mechanisms of specific binding of ColQ to the NMJ enabled us to ameliorate devastating myasthenic symptoms of Colq-/- mice and to reveal bases of

  9. Clinical significance of detection of antibodies to fetal and adult acetylcholine receptors in myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    Qi-Guang Shi; Zhi-Hong Wang; Xiao-Wei Ma; Da-Qi Zhang; Chun-Sheng Yang; Fu-Dong Shi; Li Yang

    2012-01-01

    Objective To evaluate the frequency,distribution and clinical significance of the antibodies to the fetal and/or adult acetylcholine receptor (AChR) in patients with myasthenia gravis (MG).Methods AChR antibodies were detected by cell-based assay in the serum of ocular MG (OMG) (n =90) and generalized MG (GMG) patients (n =110).The fetaltype (2α∶ β∶ γ∶ δ) and adult-type (2α∶ β∶ ε∶ δ) AChR were used as antigens,and their relevance to disease presentation was assessed.Results The overall frequencies of anti-adult and anti-fetal AChR antibodies were similar in all 200 patients examined,with 14 having serum specific to the AChR-γ subunit,and 22 to the AChR-ε subunit.The overall sensitivity when using the fetal and adult AChR antibodies was higher than that when using the fetal AChR antibody only (P =0.015).Compared with OMG patients,the mean age at disease onset and the positive ratio of antibodies to both isoforms of the AChR were significantly higher in patients who subsequently progressed to GMG.Older patients and patients with both anti-fetal and anti-adult AChR antibodies had a greater risk for developing generalized disease [odds ratio (OR),1.03;95% confidence interval (CI),1.01-1.06 and OR,5.09;95% CI,2.23-11.62].Conclusion Using both fetal-and adulttype AChRs as the antigens may be more sensitive than using either subtype.Patients with serum specific to both isoforms are at a greater risk of progressing to GMG.Patients with disease onset at an advanced age appear to have a higher frequency of GMG conversion.

  10. Factors predicting surgical outcome of thymectomy in myasthenia gravis: A 16-year experience

    Directory of Open Access Journals (Sweden)

    Nilkamal Kumar

    2011-01-01

    Full Text Available Aim: To assess the surgical outcome of myasthenia gravis (MG following thymectomy and to determine the outcome predictors to such therapeutic approach. Materials and Methods: This study is a retrospective review of 80 consecutive thymectomies performed for MG over a 16-year period. Results: There were 41 females and 39 males (mean age, 34.32 years with mean disease duration of 17.45 months prior to surgery. Stagewise distribution of the patients revealed 2.5% in stage I, 48.7% in stage IIA, 33.8% in stage IIB, 8.7% in stage III, and 6.3% in stage IV. The surgical approach was either trans-sternal (n=67 or video-assisted thoracoscopic route (n=13. Follow-up was obtained in 91.2% (n=73 of patients with mean duration of 67.7 months. At their last follow-up, 26.0% were in complete remission, 35.6% were asymptomatic on decreased medications, and 17.8% had clinical improvement on decreased medications. Overall, 79.4% of patients benefited from surgery, 8.2% had unchanged disease status, and 12.3% worsened clinically. Factors influencing favorable outcome include sex, disease stage, gland weight, and preoperative medication with anti-cholinesterase (P<0.05. There was one death in the perioperative period due to septicemia. Two patients died at fourth and seventh month following thymectomy. Conclusion: Thymectomy for MG is safe and effective. Certain influencing factors may shape treatment decisions and target higher risk patients.

  11. Intravenous flurbiprofen for post-thymectomy pain relief in patients with myasthenia gravis

    Science.gov (United States)

    2012-01-01

    Background Post-thymectomy pain in myasthenia gravis (MG) patients can inhibit breathing and coughing. Inappropriate usage of analgesics may exacerbate respiratory inhibition and even cause myasthenic crisis. Flurbiprofen is a non-steroidal anti-inflammatory drug (NSAID) that is commonly used to control moderate postoperative pain and is not associated with respiratory inhibition. We hypothesized that flurbiprofen may provide post-thymectomy pain relief without increasing the risk of complications in MG patients. Methods Two hundred MG patients underwent extended thymectomy from March 2006 to December 2010 and were randomly allocated to a flurbiprofen group (110 patients, 50 mg intravenous flurbiprofen axetil) or a control group (90 patients, 100 mg intramuscular tramadol) as postoperative analgesia. Visual analog scale (VAS) pain score, heart rate, blood pressure, respiratory rate, pulse oximetry (SpO2), and adverse effects were recorded before and up to 24 h after drug administration. Results There were no significant differences in the preoperative clinical characteristics of the flurbiprofen and control (tramadol) groups. Both flurbiprofen and tramadol significantly alleviated post-thymectomy pain (p < 0.05 for both), but patients in flurbiprofen group had significantly lower VAS pain scores at 0.5 h, 2 h, 4 h, and 8 h after surgery (p < 0.05 for all times). There were no significant post-thymectomy changes of heart rate, respiratory rate, mean arterial blood pressure, or SpO2 in either group at all time points. Conclusions Post-thymectomy intravenous administration of flurbiprofen axetil provides safe and effective analgesia for MG patients. PMID:23020939

  12. Clinical fluctuations in MuSK myasthenia gravis are related to antigen-specific IgG4 instead of IgG1

    NARCIS (Netherlands)

    Niks, E H; van Leeuwen, Y; Leite, M I; Dekker, F W; Wintzen, A R; Wirtz, P W; Vincent, A; van Tol, M J D; Jol-van der Zijde, C M; Verschuuren, J J G M

    2008-01-01

    We studied the longitudinal relation between disease severity and titers of antigen-specific IgG subclasses in sera of patients with myasthenia gravis and antibodies to Muscle Specific Kinase (MuSK MG). Six patients were included of whom 55 samples had been collected during 2.5-13.4 years. Anti-MuSK

  13. Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure.

    Science.gov (United States)

    Yeung, Wai L; Lam, Ching W; Fung, Lai W E; Hon, Kam L E; Ng, Pak C

    2009-01-01

    We report a severe case of congenital myasthenia gravis in a Chinese newborn who presented with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that required mechanical ventilatory support since birth. Routine neurophysiologic studies, including the 3-Hz repetitive stimulation test and electromyogram were normal. Neostigmine and edrophonium tests were also negative. However, decremental response to 3-Hz stimulation became apparent after depleting the muscles with trains of 10-Hz stimuli for 10 min. The infant was subsequently confirmed to have heterozygous mutations in the choline acetyltransferase genes, p.T553N and p.S704P. Both missense mutations are novel mutations. The child remained on positive pressure ventilation at 3 years of age despite treatment with high-dose anticholinesterase. This case highlights the difficulty of making an early diagnosis based on clinical presentation and routine electrophysiologic tests, especially when neonatologists are not familiar with this condition. Further, as there are different genetic defects causing different types of congenital myasthenia gravis, anticholinesterase therapy may be beneficial to some but detrimental to others. Therefore, the exact molecular diagnosis is an important guide to therapy. A high index of suspicion coupled with extended electrodiagnostic tests in clinically suspected patients will ensure the selection of appropriate genetic molecular study for confirming the diagnosis. PMID:18797171

  14. Effects of the ß2-adrenoceptor agonist, albuterol, in a mouse model of anti-MuSK myasthenia gravis.

    Science.gov (United States)

    Ghazanfari, Nazanin; Morsch, Marco; Tse, Nigel; Reddel, Stephen W; Phillips, William D

    2014-01-01

    The β2-adrenergic receptor agonist, albuterol, has been reported beneficial in treating several forms of congenital myasthenia. Here, for the first time, we examined the potential benefit of albuterol in a mouse model of anti-Muscle Specific Kinase (MuSK) myasthenia gravis. Mice received 15 daily injections of IgG from anti-MuSK positive patients, which resulted in whole-body weakness. At neuromuscular junctions in the tibialis anterior and diaphragm muscles the autoantibodies caused loss of postsynaptic acetylcholine receptors, and reduced the amplitudes of the endplate potential and spontaneous miniature endplate potential in the diaphragm muscle. Treatment with albuterol (8 mg/kg/day) during the two-week anti-MuSK injection series reduced the degree of weakness and weight loss, compared to vehicle-treated mice. However, the compound muscle action potential recorded from the gastrocnemius muscle displayed a decremental response in anti-MuSK-injected mice whether treated with albuterol or vehicle. Ongoing albuterol treatment did not increase endplate potential amplitudes compared to vehicle-treated mice nor did it prevent the loss of acetylcholine receptors from motor endplates. On the other hand, albuterol treatment significantly reduced the degree of fragmentation of endplate acetylcholine receptor clusters and increased the extent to which the remaining receptor clusters were covered by synaptophysin-stained nerve terminals. The results provide the first evidence that short-term albuterol treatment can ameliorate weakness in a robust mouse model of anti-MuSK myasthenia gravis. The results also demonstrate that it is possible for albuterol treatment to reduce whole-body weakness without necessarily reversing myasthenic impairment to the structure and function of the neuromuscular junction. PMID:24505322

  15. Effects of the ß2-adrenoceptor agonist, albuterol, in a mouse model of anti-MuSK myasthenia gravis.

    Directory of Open Access Journals (Sweden)

    Nazanin Ghazanfari

    Full Text Available The β2-adrenergic receptor agonist, albuterol, has been reported beneficial in treating several forms of congenital myasthenia. Here, for the first time, we examined the potential benefit of albuterol in a mouse model of anti-Muscle Specific Kinase (MuSK myasthenia gravis. Mice received 15 daily injections of IgG from anti-MuSK positive patients, which resulted in whole-body weakness. At neuromuscular junctions in the tibialis anterior and diaphragm muscles the autoantibodies caused loss of postsynaptic acetylcholine receptors, and reduced the amplitudes of the endplate potential and spontaneous miniature endplate potential in the diaphragm muscle. Treatment with albuterol (8 mg/kg/day during the two-week anti-MuSK injection series reduced the degree of weakness and weight loss, compared to vehicle-treated mice. However, the compound muscle action potential recorded from the gastrocnemius muscle displayed a decremental response in anti-MuSK-injected mice whether treated with albuterol or vehicle. Ongoing albuterol treatment did not increase endplate potential amplitudes compared to vehicle-treated mice nor did it prevent the loss of acetylcholine receptors from motor endplates. On the other hand, albuterol treatment significantly reduced the degree of fragmentation of endplate acetylcholine receptor clusters and increased the extent to which the remaining receptor clusters were covered by synaptophysin-stained nerve terminals. The results provide the first evidence that short-term albuterol treatment can ameliorate weakness in a robust mouse model of anti-MuSK myasthenia gravis. The results also demonstrate that it is possible for albuterol treatment to reduce whole-body weakness without necessarily reversing myasthenic impairment to the structure and function of the neuromuscular junction.

  16. Teste do gelo no diagnóstico de miastenia gravis Ice pack test in the diagnosis of myasthenia gravis

    OpenAIRE

    Nilson Lopes da Fonseca Junior; Lucia Miriam Dumont Lucci; José Ricardo Carvalho Lima Rehder

    2010-01-01

    OBJETIVO: Demonstrar a sensibilidade e especificidade do teste do gelo no diagnóstico diferencial de ptose palpebral por miastenia gravis. MÉTODOS: Estudo prospectivo tipo ensaio clínico com grupo controle. Foi realizado o teste do gelo em pacientes portadores de ptose palpebral. Os pacientes foram divididos em 2 grupos, sendo o grupo I constituído por pacientes com miastenia gravis e o grupo II (controle) formado por pacientes portadores de ptose congênita, miogênica não-miastênica ou aponeu...

  17. Decrease of 25 kD protein component in the muscle of myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    Hui-Min Ren; Zhi-Gang; Zhou Xiang-Jun; Chen Jun Huang; Chuan-Zhcn Lu

    2000-01-01

    Objective To explore whether the protein components have difference between normal and myasthenia gravis (MG) skeletal muscles and the differential components of protein was associated with muscle contraction components. Methods Proteins were extracted from 10 cases of normal muscles and 17 cases of MG skeletal muscles with PBS and Gubstraub solution, respectively. The components of protein were analyzed by SDS-PAGE in common and micro methods in double blind. Composition of the differential protein band was discovered by two-dimensional electrophoresis. Results SDS-PAGE patterns showed that concentration of the protein band with mass of about 25 kD in the MG muscles were much lower than that in the normal muscles. The density of the protein band in the PBS extraction, in the common method, was 4.20±2.31 and 1.40±0.47 in the normal and MG muscles, respectively (p<0.01), in the micro method, it was 4.62±1.94 and 1.66±0.56 in the normal and MG muscles. respectively (p<0.001). The value of density for 25 kD protein band in the Gubstraub solution extraction, in the common analysis was 4.14 ± 1.33 and 2.02 ±1.08 in the normal and MG muscles, respectively (p<0.001), and it in the micro analysis was 4.26±2.58 and l.34±0.79 in the normal and MG muscles, respectively (p<0.001).The pattern of two-dimensional electrophoresis demonstrated that the differential 25 kD protein band consisted of two components at least with adjacent isoelectric point on the alkaline side in the gel, and they were proved to be irrelated to the components of myosin light chains. Conclusion It was suggested that 25 kD protein from skcletal muscle could be associated with the pathogeny or developing of MG.

  18. Frequency of myasthenic crisis in relation to thymectomy in generalized myasthenia gravis: A 17-year experience

    Directory of Open Access Journals (Sweden)

    Shalmani Hamidreza

    2004-09-01

    Full Text Available Abstract Background Myasthenic crisis is the most serious life-threatening event in generalized myasthenia gravis (MG patients. The objective of this study was to assess the long-term impact of thymectomy on rate and severity of these attacks in Iranian patients. Methods We reviewed the clinical records from 272 myasthenic patients diagnosed and treated in our neurology clinic during 1985 to 2002. Fifty-three patients were excluded because of unconfirmed diagnosis, ocular form of MG, contraindication to surgery, concomitant diseases and loss to follow-up. The Osserman classification was used to assess the initial severity of the disease. Frequency and severity of the attacks were compared between two groups with appropriate statistical tests according to the nature of variables. Multivariate logistic regression analysis was used to assess the predictors of myasthenic crisis in the group of patients without thymoma. Results 110 patients were in thymectomy group and the other 109 patients were on medical therapy. These two groups had no significant differences with respect to age at onset, gender, Osserman score in baseline and follow up period. 62 patients (28.3% of all 219 patients had reported 89 attacks of myasthenic crisis. 20 patients of 62 (32% were in thymectomy group and 42 (68% were in the other group. There was significant difference between the two groups in number of patients with crisis (P = 0.001; odds ratio = 2.8 with 95% CI of 1.5 to 5.2. In addition, these attacks were more severe in group of non-thymectomized patients as the duration of ICU admission was longer and they needed more ventilatory support during their attacks. Regression model showed thymectomy and lower age at onset as two predictors of decrement in myasthenic crisis rate in non-thymomatous MG patients. Conclusions It is suggested that frequency and severity of myasthenic attacks as important endpoints in evaluation of MG patients. Thymectomy seems to have a

  19. Comparison of diagnosis value for new onset myasthenia gravis by many clinical auxiliary examinations

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    BACKGROUND: The clinical values of neostigmine test, clinical electrophysiologic study and acetylcholine receptor antibody detection in diagnosing myasthenia gravis (MG) found newly are unclear in China.OBJECTIVE: To investigate the reference value of common clinical diagnosis parameters in correctly diagnosing untreated MG found newly.DESIGN: Retrospective case analysis.SETTING: Department of Neurology, Beijing Hospital, Ministry of Health.PARTICIPANTS: Totally 156 outpatients with MG admitted to Department of Neurology, Beijing Hospital,Ministry of Health between January 1999 and December 2002. The involved patients, 72 males and 84 females, were aged 2 - 79 years. They were classified according to Osserman's criteria: ⅡA 72, ⅡB 76, Ⅲ3 and Ⅳ 5. They were all subjected to being inquired of disease history, neostigmine test, and acetylcholine receptor antibody detection, met the diagnosis criteria of Neuroimmunology Committee of China, and confirmed by clinical electrophysiologic detections; Informed consents were obtained from all the involved subjects.METHODS: ①After admission, every patient was intramuscularly injected with 1.5 mg neostigmine; If the patient was a child, the injection dose was decreased according to his/her age. If his/her score of any observation index after injection was improved ≥ 50% as compared with before injection , his positive index was Set as positive. Positive neostigmine test was set if there was one positive index. ②Repetitive nerve stimulation and single fiber electromyography were performed with Dantec Keypoint electromyogram (EMG) apparatus. ③Acetylcholine receptor antibody was detected by ELISA method.MAIN OUTCOME MEASURES: Clinical absolute and relative scores of MG, acetylcholine receptor antibody level, and repetitive nerve stimulation and single fiber electromyography examination results.RESULTS: The positive rates of neostigmine test, repetitive nerve stimulation and single fiber electromyography examination

  20. A functional SNP in the regulatory region of the decay-accelerating factor gene associates with extraocular muscle pareses in myasthenia gravis

    KAUST Repository

    Heckmann, J M

    2009-08-13

    Complement activation in myasthenia gravis (MG) may damage muscle endplate and complement regulatory proteins such as decay-accelerating factor (DAF) or CD55 may be protective. We hypothesize that the increased prevalence of severe extraocular muscle (EOM) dysfunction among African MG subjects reported earlier may result from altered DAF expression. To test this hypothesis, we screened the DAF gene sequences relevant to the classical complement pathway and found an association between myasthenics with EOM paresis and the DAF regulatory region c.-198CG SNP (odds ratio8.6; P0.0003). This single nucleotide polymorphism (SNP) results in a twofold activation of a DAF 5?-flanking region luciferase reporter transfected into three different cell lines. Direct matching of the surrounding SNP sequence within the DAF regulatory region with the known transcription factor-binding sites suggests a loss of an Sp1-binding site. This was supported by the observation that the c.-198CG SNP did not show the normal lipopolysaccharide-induced DAF transcriptional upregulation in lymphoblasts from four patients. Our findings suggest that at critical periods during autoimmune MG, this SNP may result in inadequate DAF upregulation with consequent complement-mediated EOM damage. Susceptible individuals may benefit from anti-complement therapy in addition to immunosuppression. © 2010 Macmillan Publishers Limited. All rights reserved.

  1. 重症肌无力认知损害的研究进展%Progresses on Study of Cognitive Impairment in Myasthenia Gravis

    Institute of Scientific and Technical Information of China (English)

    李晨晨; 田仰华; 孟玉

    2012-01-01

    重症肌无力(MG)是一种自身免疫性疾病,主要累及神经-肌肉接头突触后膜烟碱样乙酰胆碱受体,临床表现为肌肉无力和活动后易疲劳.目前研究发现,MG患者可有中枢神经系统受损的症状,表现为多项认知功能的损害.本文就国内外学者对MG患者认知损害的相关研究及其可能的机制进行综述.%Myasthenia gravis(MG) is a kind of autoimmune disease, involving nicotinic acetylcholine receptor in the postsynaptic membrane of neuromuscular junction, and its clinical manifestation is muscle weakness and fatigue after activity. At present, central nervous system symptoms in MG patients have been observed cognitive impairment in some researches. Relative researches and possible mechanism about cognitive impairment in MG patients at home and abroad were introduced .

  2. An acetylcholine receptor alpha subunit promoter confers intrathymic expression in transgenic mice. Implications for tolerance of a transgenic self-antigen and for autoreactivity in myasthenia gravis.

    Science.gov (United States)

    Salmon, A M; Bruand, C; Cardona, A; Changeux, J P; Berrih-Aknin, S

    1998-06-01

    Myasthenia gravis (MG) is an autoimmune disease targeting the skeletal muscle acetylcholine receptor (AChR). Although the autoantigen is present in the thymus, it is not tolerated in MG patients. In addition, the nature of the cell bearing the autoantigen is controversial. To approach these questions, we used two lineages of transgenic mice in which the beta-galactosidase (beta-gal) gene is under the control of a 842-bp (Tg1) or a 3300-bp promoter fragment (Tg2) of the chick muscle alpha subunit AChR gene. In addition to expression in muscle cells, thymic expression was observed in both mouse lines (mainly in myoid cells in Tg1 and myoid cells and epithelial cells in Tg2). After challenge with beta-gal, Tg1 mice produced Th2-dependent anti-beta-gal antibodies, while Tg2 mice were almost unresponsive. By contrast, in a proliferation assay both Tg lines were unresponsive to beta-gal. Cells from Tg1 mice produce Th2-dependent cytokine whereas cells from Tg2 mice were nonproducing in response to beta-gal. These data indicate that the level of expression in Tg1 mice could be sufficient to induce tolerance of Th1 cells but not of Th2 cells, while both populations are tolerated in Tg2 mice. These findings are compatible with the hypothesis that AChR expression is not sufficiently abundant in MG thymus to induce a full tolerance. PMID:9616205

  3. Feasibility of full and rapid neuromuscular blockade recovery with sugammadex in myasthenia gravis patients undergoing surgery – a series of 117 cases

    Directory of Open Access Journals (Sweden)

    Vymazal T

    2015-10-01

    Full Text Available Tomas Vymazal,1 Martina Krecmerova,1 Vladimír Bicek,1 Robert Lischke2 1Department of Anaesthesiology and ICM, 2nd Faculty of Medicine, 23rd Surgical Department of 1st Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic Purpose: Myasthenia gravis (MG is an autoimmune disease interfering with neuromuscular transmission. Patients are at risk of postoperative residual curarization (PORC if nondepolarizing muscle relaxants are used. Clinically inapparent insufficient muscle strength may result in hypoventilation and postoperative bronchopneumonia. We describe a cohort of 117 cases in which sugammadex was used in MG patients undergoing surgery with muscle relaxation with rocuronium.Methods and patients: We anesthetized 117 patients with MG using rocuronium and sugammadex as neuromuscular blockade reversal agent. One hundred five patients underwent surgical thymectomy and 12 underwent cholecystectomy (five laparotomic and seven laparoscopic. We measured time from sugammadex administration to recovery and to extubation, using the TOF-Watch® (series of four consecutive electrical impulses [the train-of-four] >0.9. We tracked peripheral capillary oxygen saturation (SpO2 <95%, elevation of partial pressure of carbon dioxide (pCO2 >10% above baseline, number of reintubations within the first 48 hours, and number of pneumonias within 120 hours, postoperatively. Results were processed as average, minimum, and maximum values.Results: The period needed to reach train-of-four of 0.9 following sugammadex administration was on average 117 seconds (minimum of 105 seconds/maximum of 127 seconds and differed within deviation <10%. The time to extubation following sugammadex administration was on average 276 seconds (minimum of 251 seconds/maximum of 305 seconds and differed minimally among patients as well. We observed no SpO2 <95%, no pCO2 elevation >10% above a baseline, no emergent reintubation within the

  4. 胸腺瘤相关重症肌无力发病的免疫学机制研究进展%Immune mechanism of thymomas in the development of myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    王卫

    2013-01-01

    Myasthenia gravis is an acquired autoimmune disorder which is cellular-immunity-dependent,humoral-immunitymediated and complement participated.It is still not clear which initial factor causes the immune response.The characteristic of myasthenia gravis is that many of the patients have an abnormality in their thymus.So it is speculated that the immune response is initiated in thymus.The thymus is the central organ of the immune system,playing the key role in T cell generation,diversification and maturation.T cells are positively selected for their recognition of antigens associated with MHC expressed in the thymus,and negatively selected according to their response to the self-antigens.The result of these selection is that the T cell use the MHC expressed on the other cells of the body for recognition of foreign antigens but do not react with self-antigens.Perhaps the most important role of thymus is the induction of immune self-tolerance that functions to prevent self-harm or autoimmunity.Thymomas are functional tumors originated from epithelial of the thymus,which have the capacity to induce T cell to differentiate and mature.What mechanism is myasthenia gravis associated thymoma initiated by? This review will summarize the existing evidence of thymus,thymoma and myasthenia gravis and try to clarify the immune mechanism of initiation of myasthenia gravis associated thymomas.%重症肌无力(MG)是一种细胞免疫依赖、体液免疫介导、补体参与的获得性自身免疫疾病,但其引起免疫应答的始动环节仍不十分清楚.由于绝大多数MG患者伴随胸腺异常,故推测导致MG发生的免疫反应起始部位可能在胸腺.胸腺是T细胞分化、发育、成熟的场所,后者在此经历阳性选择和阴性选择,从而获得识别外来抗原的能力,但同时也去除了对自身抗原的反应性,因此胸腺的重要作用之一在于诱导自身免疫耐受,从而避免自身免疫性疾病的发生.在伴胸腺增生的MG

  5. Myasthenia gravis and thymoma: evaluation of 41 patients Miastenia grave e timoma: avaliação de 41 pacientes

    Directory of Open Access Journals (Sweden)

    JOSÉ LAMARTINE DE ASSIS

    1999-03-01

    Full Text Available We evaluated the epidemiological, clinical, laboratory and therapeutical aspects of 41 patients with thymomatous myasthenia gravis. Thirty five patients (85.36% were submitted to thymectomy. Follow-up ranged from two to 18 years. Diagnosis of thymoma was based upon clinical investigations and CT scan of the anterior mediastinum and in 11 patients supported by immunological tests of anti-striated muscle antibodies with a positive result in more than 80% of cases. Histopathologic examination of all thymomectomized patients confirmed the diagnosis of thymoma. There was a significant predominance of benign over malignant thymoma. Occurred higher prevalence of male patients and of patients over 40 years of age. The therapeutical strategy to control myasthenic clinical findings was the same as that for non-thymomatous myasthenia gravis. The corticosteroids associated to cytotoxic drugs were less often used. Radiotherapy of the anterior mediastinum was more often used in patients having invasive tumors submitted to surgery or not. With regard to survival and control of myasthenia gravis, especially in younger patients and in those submitted to early surgery, results of treatment were surprisingly favorable.Avaliamos 41 pacientes com miastenia grave timomatosa sob os aspectos epidemiológico, clínico e terapêutico. Trinta e cinco pacientes (85,36% foram timectomizados. O seguimento clínico variou de dois meses até 18 anos. O diagnóstico do timoma foi fundamentado no estudo de imagem do mediastino (tomografia axial computadorizada e, em 11 pacientes, complementado com a determinação sérica de anticorpos para músculo estriado com resultado positivo em mais de 80% dos casos e confirmado pelo exame anátomo-patológico do timo realizado em todos os pacientes operados. Ocorreu predomínio significante de timomas benignos sobre timomas malignos, forma clínica generalizada severa, frequente envolvimento do sexo masculino e, em pacientes com mais de

  6. Progressive bilateral ophthalmoparesis--a case of simultaneous autoimmunity: balancing Graves' ophthalmoparesis and ocular myasthenia.

    Science.gov (United States)

    Canepa, Carlo; Venu, Maya

    2016-01-04

    A 44-year-old woman with no medical history presented with a 1-year history of horizontal diplopia, bilateral exophthalmos and progressive asymmetrical ophthalmoparesis, with no pupillary dysfunction or ptosis. Within 3 months of her initial presentation, she noticed paresis of right eye abduction, followed after 1 month with paresis of left eye abduction. Initial investigations revealed positive antiperoxidase antibodies for Graves' disease and positive AChR for myasthenia gravis. MRI of the brain showed increased intensity in bilateral inferior rectus muscles and CT of the chest showed thymic hyperplasia. Treatment with carbimazole and pyridostigmine was started, with complete resolution after 1 month.

  7. Myasthenia gravis and thymus: long-term follow-up screening of thymectomized and non-thymectomized patients

    Directory of Open Access Journals (Sweden)

    Paulo Jose Lorenzoni

    2013-07-01

    Full Text Available Thymoma screening is recommended at the onset of myasthenia gravis (MG or when patients with MG present with clinical deterioration or a progressive increase of anti-acetylcholine receptor antibody. However, it is unknown if it is necessary to repeat the screening of thymoma at fixed intervals, even in the absence of MG deterioration, when the initial screening is negative. We analyzed the recurrence rate and incidence of new thymoma in a series of patients with well-controlled MG. The sample consisted of 53 patients, aged 17 to 72 years, and the follow-up varied between 75 and 472 months. The chest computerized tomography detected thymus abnormalities in eight patients at the initial screening and no abnormalities in all patients at a second screening after five years. The findings of this study support the classical opinion that screening for thymoma should be recommended only if there is clinical deterioration due to the disease.

  8. Application of digital technology in the prosthodontic management of a patient with myasthenia gravis: A clinical report.

    Science.gov (United States)

    AlHelal, Abdulaziz; Jekki, Rami; Richardson, Paul M; Kattadiyil, Mathew T

    2016-05-01

    Application of digital technology in the treatment of a patient with myasthenia gravis and an excessively resorbed mandibular residual alveolar ridge is presented. The patient requested replacement of worn maxillary and mandibular prostheses. Treatment involved fabricating a new maxillary complete denture that was similar in appearance to the one being replaced and rebasing the existing and clinically acceptable mandibular fixed framework. The interim phase of treatment involved fabricating a mandibular milled prosthesis similar in morphology to the existing fixed complete denture with computer-aided design and computer-aided manufacturing technology. This facilitated conversion of an interim prosthesis by using an orientation device and eliminated the need for the patient to adapt to an interim removable complete denture. PMID:26775246

  9. A case of radiation-related pneumonia and bilateral tension pneumothorax after extended thymectomy and adjuvant radiation for thymoma with myasthenia gravis

    International Nuclear Information System (INIS)

    A 62-year-old man was admitted to our hospital with a 2-month history of progressive cough and dyspnea. He had undergone thymectomy for thymoma with myasthenia gravis. Adjuvant radiation of 50 Gy had been performed until 6 months before the symptoms developed. Chest computed tomography showed infiltrative findings even outside the irradiated area. We diagnosed radiation-related pneumonia, and 30 mg per day prednisolone was initiated. On the final day, he developed bilateral tension pneumothorax. After chest tube drainage, the right S5 bulla was resected with video-assisted thoracoscopic surgery (VATS). The right pneumothorax caused the bilateral tension pneumothorax, because the right and left thoracic cavity communicated in the anterior mediastinum after thymectomy. We should be aware of the risk of bilateral tension pneumothorax following radiation-related pneumonia after extended thymectomy and adjuvant radiation in patients with myasthenia gravis. (author)

  10. Confiabilidade do teste da caminhada de seis minutos em pacientes com miastenia gravis generalizada Reliability of the six-minute walk test in patients with generalized myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Vanessa Regiane Resqueti

    2009-09-01

    Full Text Available Este estudo objetivou determinar a confiabilidade do teste da caminhada de seis minutos (TC6M como um teste de capacidade funcional em pacientes com miastenia gravis generalizada (MG. Foram selecionados 11 pacientes com MG - 5 homens, 6 mulheres - com idade de 55±9 anos, avaliados inicialmente quanto à função fulmonar, que se submeteram a três TC6M em dias diferentes. Durante e/ou após cada teste foram medidas freqüência cardíaca e saturação de oxigênio (por oxímetro portátil, sensação de dispnéia (pela escala de Borg e distância percorrida. Nos três testes as distâncias percorridas foram 498 m, 517 m e 520 m (respectivamente 99%, 103% e 104% do valor predito. Em média, a freqüência cardíaca, dispnéia e saturação de oxigênio mostraram comportamento constante nos três testes. Foram encontradas alta confiabilidade relativa, com coeficiente de correlação interclasse maior que 0,90 entre os testes (TC6M1-TC6M2, 0,960; TC6M1-TC6M3, 0,945; e TC6M2-TC6M3, 0,970 e confiabilidade absoluta de 4%, 3,5% e 4,8%, com reprodutibilidade de 11%, 9,8% e 13,4%, respectivamente para o primeiro, segundo e terceiro testes. Os limites superiores e inferiores de concordância e o valor médio das médias das diferenças (bias calculados pelo teste de Bland-Altman mostraram-se clinicamente aceitáveis. Conclui-se que o TC6M se mostrou seguro, confiável e reprodutível, podendo ser aplicado para avaliação e seguimento da tolerância ao exercício em pacientes com MG generalizada.The purpose of this study was to assess the reliability of the six minutes walking test (6MWT as a functional capacity test for patients with generalized myasthenia gravis (MG. Eleven patients with generalized MG (5 men, six women, aged 55±9 years, were first assessed as to pulmonary function and then submitted to three 6MWT in different days. Heart rate and oxygen saturation were measured (by means of portable oxymeter during, and dyspnea (by the Borg scale and

  11. CLINICAl AND IMMUNOPATHOLOGICAL.OGICAI. STUDY ON THE THYMUS IN MYASTHENIA GRAVIS

    Institute of Scientific and Technical Information of China (English)

    Lai-Hui Tu; Ren-Qin; Tao Wu

    2000-01-01

    Objective Directing towards the thymus and emphasizing mainly on the clinical and immunopathofogical study to probe its actior of the diagnosis,treatmeant and pathogcnesis cfmyasthema gravis(MG). Results tnd Dicusslons I .Diagnosis of MG with thymus pathologic lesions: I.MG with thymus hyetplasta It was shown by midstemum. CT scanning Germinal center arises from B ceil was determined by immunohistologic stain(Tol 5 marked); 2MG with thymoma It usualy occures at midaged man and apt to relapses on myasthenic crises. Positive rate of serum CAE-Ab(anti-citric acid extract antibody of human skeletal musie) was used tc find small thymoma early Rabbit Anti-serum against human CAE was labeled to determine thymoma AgNOR(argyrophilic stain of nuclear organizer region)was used to differentiate bemgn and maligant thymoma .As Muller-Hermlink' s classfication.thymoma of cortical type occurred more common and reliable to infiltration Ⅱ Treatment of MG with thymus pathoiogic lestons Except for symptomatic treatment with anti-acytlecholine drugs.MPSS or CTX intravenous perfusion had effect to relieve the myasthenic cnsis Using thymus radiation therapy to 134 cases, the complete remission and remarkable improvement rates were 66.5%.Rhe long-term effect followed up was rather stable. Using percutanous paracentesis into thymus gland for intervention treatment to 13 cases, all of them showed effect within one week.10 cases followed up more than 3 years,9 cases were complete remission or remarkable improvement Thymectmy is still a basic therapy for MG.In 102 cases with thymectomy,the complete remission and remarkable improvement rates were 59.8%,mortanty was 176%.Continual observation of CAE-Ab could contribute to determine the pateint' s prognosis,9 patients in severe condition followed up within 3 years,their serum CAE-Ab antibody titers persisted at high lever,3 Of them died,but 7 patients followed up within I year,those of their serum antibodies decreased quickly,5 cases of them

  12. Resultado da timectomia ampliada no tratamento de pacientes com Miastenia gravis Extended thymectomy for treating patients with Myasthenia gravis (MG

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    Raul Lopes Ruiz Jr

    2004-04-01

    Full Text Available INTRODUÇÃO: Diversas variações da timectomia podem ser realizadas, dentre elas a transesternal ampliada. A literatura sugere que, quanto mais extenso o procedimento para ressecção da glândula e tecidos do mediastino anterior, melhores os resultados e prognóstico. OBJETIVO: Avaliar retrospectivamente a resposta à timectomia ampliada em portadores de Miastenia gravis. MÉTODO: Foram avaliados 46 portadores de Miastenia gravis, submetidos à plasmaferese pré-operatória e à timectomia ampliada, entre agosto de 1992 e janeiro de 2003, divididos em três grupos, segundo o tempo decorrido desde o início dos sintomas: menor que 12 meses, 13 a 24 meses e maior que 25 meses. RESULTADOS: Trinta e um pacientes eram do sexo feminino e 15 do masculino. A média de idade foi de 30 anos. O tempo médio de evolução da doença foi de 26,3 meses. O acompanhamento ambulatorial pós-operatório foi em média de 26,6 meses. Quanto ao grau de resposta à timectomia, 89% dos pacientes tiveram boa resposta, sendo que 50% apresentaram remissão completa. Ocorreu um óbito nesta série. O exame anatomopatológico demonstrou que a hiperplasia tímica foi o achado mais freqüente. Apenas 3 pacientes (6,5% apresentaram timomas benignos. Em 5 pacientes (10,8% encontramos tecido tímico extraglandular: na gordura peritímica em 2 deles, na gordura pericárdica em 1, junto ao nervo frênico esquerdo em outro e na janela aorto-pulmonar em outro. CONCLUSÃO: A timectomia ampliada para tratamento da Miastenia gravis mostrou-se segura, eficiente, e apresentou alta porcentagem de remissão completa. Houve a detecção de tecido tímico extraglandular em alguns pacientes. Tão logo seja feito o diagnóstico, está indicada como terapêutica associada à plasmaferese pré-operatória e à medicamentosa, independentemente da idade, patologia tímica, e início dos sintomas.BACKGROUND: Extended thymectomy is one of several types of thymectomy. Literature suggests that the

  13. Epilepsy as an Autoimmune Disease

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    J Gordon Millichap; John J Millichap

    2014-01-01

    Investigators at University of New South Wales, Sydney, Australia, and Boston Children's Hospital, Harvard Medical School, conducted a retrospective population-level study of the relationship between epilepsy and 12 common autoimmune diseases: type 1 diabetes mellitus, psoriasis, rheumatoid arthritis, Graves disease, Hashimoto thyroiditis, Crohn disease, ulcerative colitis, systemic lupus erythematosus, antiphospholipid syndrome, Sjogren syndrome, myasthenia gravis, and celiac ...

  14. Increased expression of Toll-like receptors 7 and 9 in myasthenia gravis thymus characterized by active Epstein-Barr virus infection.

    Science.gov (United States)

    Cavalcante, Paola; Galbardi, Barbara; Franzi, Sara; Marcuzzo, Stefania; Barzago, Claudia; Bonanno, Silvia; Camera, Giorgia; Maggi, Lorenzo; Kapetis, Dimos; Andreetta, Francesca; Biasiucci, Amelia; Motta, Teresio; Giardina, Carmelo; Antozzi, Carlo; Baggi, Fulvio; Mantegazza, Renato; Bernasconi, Pia

    2016-04-01

    Considerable data implicate the thymus as the main site of autosensitization to the acetylcholine receptor in myasthenia gravis (MG), a B-cell-mediated autoimmune disease affecting the neuromuscular junction. We recently demonstrated an active Epstein-Barr virus (EBV) infection in the thymus of MG patients, suggesting that EBV might contribute to the onset or maintenance of the autoimmune response within MG thymus, because of its ability to activate and immortalize autoreactive B cells. EBV has been reported to elicit and modulate Toll-like receptor (TLR) 7- and TLR9-mediated innate immune responses, which are known to favor B-cell dysfunction and autoimmunity. Aim of this study was to investigate whether EBV infection is associated with altered expression of TLR7 and TLR9 in MG thymus. By real-time PCR, we found that TLR7 and TLR9 mRNA levels were significantly higher in EBV-positive MG compared to EBV-negative normal thymuses. By confocal microscopy, high expression levels of TLR7 and TLR9 proteins were observed in B cells and plasma cells of MG thymic germinal centers (GCs) and lymphoid infiltrates, where the two receptors co-localized with EBV antigens. An increased frequency of Ki67-positive proliferating B cells was found in MG thymuses, where we also detected proliferating cells expressing TLR7, TLR9 and EBV antigens, thus supporting the idea that EBV-associated TLR7/9 signaling may promote abnormal B-cell activation and proliferation. Along with B cells and plasma cells, thymic epithelium, plasmacytoid dendritic cells and macrophages exhibited enhanced TLR7 and TLR9 expression in MG thymus; TLR7 was also increased in thymic myeloid dendritic cells and its transcriptional levels positively correlated with those of interferon (IFN)-β. We suggested that TLR7/9 signaling may be involved in antiviral type I IFN production and long-term inflammation in EBV-infected MG thymuses. Our overall findings indicate that EBV-driven TLR7- and TLR9-mediated innate immune

  15. Dandy-Walker syndrome in adult mimicking myasthenia gravis Síndrome de Dandy-Walker em adulto simulando miastenia gravis

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    Juliana Cardoso

    2007-03-01

    Full Text Available The Dandy-Walker syndrome (DWS is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-year-old woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine receptor antibody, repetitive nerve stimulation and "Tensilon test", but the brain magnetic resonance image reveals DWS with hydrocephalus associated with calosal dysgenesis. The characteristic of disease, clinical manifestations and pathologic features, specially the clinical evaluation of ocular abnormalities in suspicion of DWS, including the MG in differential diagnosis are discussed.A síndrome de Dandy-Walker (DWS é uma rara malformação da fossa posterior que pode ocorrer associada com outras malformações cerebrais ou sistêmicas. As alterações oculares são raras e as manifestações clínicas, simulando miastenia gravis (MG, não foram descritas até o momento. Descrevemos uma mulher de 23 anos apresentando discreta limitação da movimentação ocular com progressiva ptose palpebral que mudava de intensidade durante o dia. A investigação mostrou negativos o anticorpo anti-receptor de acetilcolina, a estimulação nervosa repetitiva e o "teste do Tensilon", porém a ressonância magnética de crânio revelou DWS com hidrocefalia associada à disgenesia de corpo caloso. As características da doença, manifestações clínicas e patológicas, especialmente a avaliação clínica de anormalidade ocular na suspeita de DWS serão discutidas, incluindo a MG no diagnóstico diferencial.

  16. [Administration of sugammadex to a patient with myasthenia gravis with fade of the train-of-four ratio].

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    Sugawara, Ami; Sasakawa, Tomoki; Hasegawa, Naoyoshi; Takahata, Osamu; Iwasaki, Hiroshi

    2011-09-01

    A 50-year-old man (weight 87 kg, height 171 cm) with myasthenia gravis (MG) was scheduled for extended thymectomy under general anesthesia. His preanesthetic train-of-four ratio (T4/T1) was 59%. The first twitch of the train-of-four (T1) was 130% after calibration. We administered rocuronium 10 mg (0.11 mg x kg(-1)) for tracheal intubation. Maximal suppression was achieved in 50 seconds. During the operation, we did continuous infusion of rocuronium to maintain T1 at 10%. We discontinued rocuronium infusion before the end of surgery. In patients with MG, deep levels of neuromuscular block can be achieved with less rocuronium. We hypothesized that the requirement of sugammadex in a patient with MG is less than that in normal patients. Therefore, we administered 0.5 mg x kg(-1) of sugammadex. After 5 min, T4/T1 had reached 54%, but T1 had not reached the control value; therefore, we administered additional 1.5 m x kg(-1) of sugammadex. Subsequently, T1 reached 120%. Patients with MG with fade on T4/T1 require a full dose of sugammadex, identical to the dose administered to normal patients.

  17. Brazilian cross-cultural translation and adaptation of the "Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items"

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    Aline Mansueto Mourao

    2013-12-01

    Full Text Available Objective To translate and to perform the cross-cultural adaptation of the “Questionnaire of Life Quality Specific for Myasthenia Gravis - 15 items” (MG-QOL15. Method The original English version of the questionnaire was translated into Portuguese. This version was revised and translated back into English. Later, both English versions were compared and the divergences were corrected in the Portuguese text. At a second stage, ten patients with MG followed at the Neuromuscular Diseases Clinic from the University Hospital, Universidade Federal de Minas Gerais answered the questionnaire. The authors analyzed the difficulties and misunderstandings in the application of the questionnaire. Results The questions 8, 13 and 15 were considered difficult to understand and were modified in the final Portuguese version. Most patients (70% had a total score above 25, and the statements 3, 8 and 9 showed the highest scores. Conclusion The Brazilian version of the questionnaire MG-QOL15 seems to be a promising tool for the assessment of Brazilian patients with MG.

  18. Clinical profile of patients with myasthenia gravis followed at the University Hospital, Federal University of Minas Gerais

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    Aline Mansueto Mourão

    2015-04-01

    Full Text Available Summary Objective: to determine the clinical profile of patients with myasthenia gravis (MG; followed at the Neuromuscular Diseases Clinic of the University Hospital, Federal University of Minas Gerais, Brazil, and to compare it with other Brazilian case series. Methods: sociodemographic and clinical data were collected from patients, and a systematic literature review performed, focusing on national studies on the clinical profile of MG patients. Results: sixty nine patients were enrolled in the study. Fifty five (91% subjects were female and the mean age (SD was 37.6 (±11.4 years. The mean disease duration was 14.1 years. Regarding treatment, prednisone was the most used strategy (64%, followed by the use of azathioprine (43%. There was no difference between thymectomized (42 and non-thymectomized (27 patients regarding disease severity and medication use. Conclusion: clinical and socio-demographic features of this MG sample from a University-based clinic resemble those reported in other Brazilian series and in the international literature.

  19. Biologics and other novel approaches as new therapeutic options in myasthenia gravis: a view to the future.

    Science.gov (United States)

    Dalakas, Marinos C

    2012-12-01

    Myasthenia gravis (MG) is caused by complement-fixing antibodies against the acetylcholine receptors (AChR). Regulatory T cells (T(reg) cells), Th17 cells, and recognition of AChR epitopes by CD4(+) T cells are fundamental. Novel biological agents now in the offing, offer the potential for specific treatment options in MG by targeting the following: (1) T cell intracellular signaling pathways, costimulation, and transduction molecules; (2) B cells, against CD20 molecules, or the B cell trophic factors BAFF and APRIL; (3) complement, against C5 that intercepts the formation of MAC; (4) cytokines and cytokine receptors targeting interleukin (IL)-6, IL-17, and the Janus tyrosine kinases (JAK)1 and JAK3; and (5) cellular adhesion and T cell migration molecules. Reengineering of pathogenic antibodies (i.e., molecular decoys) by constructing recombinant antibodies that block the complement binding of the pathogenic AChR antibodies is an additional approach. The promising therapeutic profile of these agents should be weighted against excessive cost and rare complications necessitating the need for controlled trials to secure efficacy and balance benefit against risks.

  20. Treatment of cervical dystonia with botulinum toxin in a patient with myasthenia gravis Tratamento de distonia cervical com toxina botulínica em uma paciente com miastenia gravis

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    MARCIA RUBIA R. GONÇALVES

    1999-09-01

    Full Text Available We report the case of a 49-year-old woman who has the rare combination of myasthenia gravis and cervical dystonia. She was treated with botulinum toxin type A with good response and no evidence of deterioration of the myasthenic symptoms. We therefore conclude that it is possible to use botulinum toxin in the presence of defective neuromuscular transmission.Relatamos o caso de uma mulher de 49 anos com rara combinação de miastenia gravis e distonia cervical tratada com toxina botulínica tipo A, apresentando boa resposta e nenhuma evidência de piora do quadro miastênico. A partir dessas observações concluimos que é possível o uso de toxina botulínica na presença de doença da transmissão neuromuscular.

  1. Clinical Outcomes of Myasthenia Gravis with Thymoma and Thymic Hyperplasia Undergoing Extended Transsternal Thymectomy: A Single-Center Experience

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    Nazarbaghi, Surena; Amiri-Nikpour, Mohammad Reza; Mahmodlou, Rahim; Arjmand, Nasim; Rezaei, Yousef

    2015-01-01

    Background: Despite the widespread use of thymectomy in myasthenia gravis (MG) patients, it has remained controversial as to whether this procedure is of a similar efficacy and clinical outcome among MG patients with thymoma and thymic hyperplasia. Aim: We sought to determine the long-term clinical outcomes of MG patients who received extended transsternal thymectomy associated with pyridostigmine and prednisolone postoperatively. Materials and Methods: In a retrospective study from January 1999 to December 2013, MG patients who underwent thymectomy were followed up. Out of 41 MG patients admitted in our center, 25 patients had undergone thymectomy adjunctive to pyridostigmine and prednisolone therapy postoperatively. The primary endpoints included improvement in individual diplopia, ptosis, dysphagia, dysarthria, dyspnea, and limb weakness. In addition, according to the MG Foundation of America (MGFA) criteria, response to therapy was defined as complete stable remission (CSR), pharmacologic remission (PR), and minimal manifestation (MM) as secondary endpoints. Results: Majority of the patients were male (60%) and the mean age of the patients was 32.2 ± 13.9 years. Fifteen (60%) and 10 patients (40%) had thymoma and thymic hyperplasia, respectively. All the patients were followed up during a mean period of of 86.9 ± 50.3 months (minimum 10 months and maximum 168 months). The rates of CSR, PR, and MM were comparable between the thymoma and thymic hyperplasia groups (P = 0.584). Based on the Kaplan Meier analysis, the probabilities of CSR, PR, and MM were not significantly different between patients with thymoma and thymic hyperplasia. Conclusion: The extended transsternal thymectomy, along with the postoperative regimen of pyridostigmine and prednisolone was associated with a high rate of clinical improvement among MG patients with thymoma or thymic hyperplasia. PMID:26713298

  2. Clinical outcomes of myasthenia gravis with thymoma and thymic hyperplasia undergoing extended transsternal thymectomy: A single-center experience

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    Surena Nazarbaghi

    2015-01-01

    Full Text Available Background: Despite the widespread use of thymectomy in myasthenia gravis (MG patients, it has remained controversial as to whether this procedure is of a similar efficacy and clinical outcome among MG patients with thymoma and thymic hyperplasia. Aim: We sought to determine the long-term clinical outcomes of MG patients who received extended transsternal thymectomy associated with pyridostigmine and prednisolone postoperatively. Materials and Methods: In a retrospective study from January 1999 to December 2013, MG patients who underwent thymectomy were followed up. Out of 41 MG patients admitted in our center, 25 patients had undergone thymectomy adjunctive to pyridostigmine and prednisolone therapy postoperatively. The primary endpoints included improvement in individual diplopia, ptosis, dysphagia, dysarthria, dyspnea, and limb weakness. In addition, according to the MG Foundation of America (MGFA criteria, response to therapy was defined as complete stable remission (CSR, pharmacologic remission (PR, and minimal manifestation (MM as secondary endpoints. Results: Majority of the patients were male (60% and the mean age of the patients was 32.2 ± 13.9 years. Fifteen (60% and 10 patients (40% had thymoma and thymic hyperplasia, respectively. All the patients were followed up during a mean period of of 86.9 ± 50.3 months (minimum 10 months and maximum 168 months. The rates of CSR, PR, and MM were comparable between the thymoma and thymic hyperplasia groups (P = 0.584. Based on the Kaplan Meier analysis, the probabilities of CSR, PR, and MM were not significantly different between patients with thymoma and thymic hyperplasia. Conclusion: The extended transsternal thymectomy, along with the postoperative regimen of pyridostigmine and prednisolone was associated with a high rate of clinical improvement among MG patients with thymoma or thymic hyperplasia.

  3. [Premature birth in patient with cervix incompetence and history of myasthenia gravis].

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    Fuentealba, Maximiliano; Troncoso, Miguel; Vallejos, Joaquin; Ponce, Sebastian; Villablanca, Nelson; Melita, Pablo

    2013-09-01

    Cervical incompetence it's a dilatation of the cervix during the third trimester of pregnancy that ends with the interruption of it. The incidence in Chile is about 0.1-2% of the total pregnancies and it's one of the causes of preterm birth. A 34 years old pregnant patient. Timectomized at age 18 to treat her miastenia gravis, previously trated with medication, had 4 previous preterm labours all of them under 25 weeks and vaginal births. All fetuses died postpartum. A cerclage was made during the third, fourth and fifth pregnancies. She didn't present hypertension during the gestation and no cervical diameter under 15mm. Since the fourth gestation the following tests are taken: Antifosfolipidic antibodies, APTT,PT. All the results are either normal or negative. Microbial cultures were negative. No amniocentesis was made. A McDonald cervical cerclage was made during pregnancies number 3, 4 and 5 on the 16th week to delay the labor. Also oral micronized progesterone, on a 400mg/24 hours dosis, was administered to avoid preterm birth. On the 24th week the pharmacological treatment started including Intramuscular Betamethasone, 12 mg/24 hours (2 doses), to induce lung maturity on the fetus. It is thought that the administration of progesterone could have improved the situation of the patient, because it acts as a labour repressants. The use of cerclage could have helped, but the factors that may influence the effectiveness of this method are unknown. Perhaps there is some immunologic factor associated with the miastenia gravis that alters the normal course of pregnancy.

  4. Thymic abnormalities: antigen or antibody? Response to thymectomy in myasthenia gravis.

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    Penn, A S; Jaretzki, A; Wolff, M; Chang, H W; Tennyson, V

    1981-01-01

    The therapeutic value of thymectomy for myasthenia is still questioned although it retains an important place among management modalities that strive for sustained remission. Questions derive from uncertainty as to appropriate timing, variable extent of resection and quantitation of response. Forty-seven patients, followed one to seven years, underwent an extended transsternal or combined transcervical-transsternal procedure with anterior mediastinal exenteration. Sixteen have been in complete remission from six months to six years, four are asymptomatic on occasional pyridostigmine and eight are significantly improved. Evaluation of thymic pathology (hyperplasic, involuted areas, and thymoma) included a search for thymic myoid cells by fluorescence cytochemistry. Antibodies to acetylcholine receptor present in 38 of 43, decreased post-operatively to normal in four, by 50% to 80% in 14, by 20 to 50% in three and were unchanged in 14. Most remissions occurred in young women with noninvoluted hyperplastic glands and variably high anti-AChR titers which dropped toward normal in seven of 15. These results encourage us to utilize this procedure routinely. PMID:6951500

  5. 锁骨骨折术后格林巴利综合征合并重症肌无力一例报道%Guillain Barré Syndrome Combined with Myasthenia Gravis after Operation for Clavicle Fracture:A Case Report

    Institute of Scientific and Technical Information of China (English)

    王成谋; 费松柏; 马祥铭; 徐蔚; 陈小霞

    2013-01-01

    Guillain Barre syndrome and myasthenia gravis are two different diseases. This paper reports a case of guillain Barre syndrome complicated by myasthenia gravis after operation for clavicle fracture and reviews pertinent literatures to analyze its reasons. Immune factor plays an important role in the occurrence of the two diseases. Surgical procedures induce peripheral nerve autoimmunity. Cross - reactive antibodies may be the cause of damages of peripheral nerve myelin proteins and neuro-muscular junction acetylcholinesterase receptor.%格林巴利综合征和重症肌无力是两种不同的疾病,本文报道1例锁骨骨折术后出现格林巴利综合征合并重症肌无力患者,并查阅相关文献分析其原因.免疫因素在两者的发病中起重要作用,外科手术操作诱发周围神经的自身免疫反应,交叉性反应抗体可能是周围神经髓磷脂蛋白和神经肌肉接头乙酰胆碱受体受损的原因.

  6. Spontaneous remission in canine myasthenia gravis: implications for assessing human MG therapies.

    Science.gov (United States)

    Shelton, G D; Lindstrom, J M

    2001-12-11

    The natural course of autoimmune canine MG was determined in 53 dogs with muscular weakness and a positive acetylcholine receptor antibody titer. Dogs were treated with anticholinesterase therapy, without immunosuppression. Spontaneous clinical and immunologic remission occurred in 47 of 53 dogs within an average of 6.4 months. Neoplasia was identified in the six dogs that did not spontaneously remit. This study questions the value of using canine MG in studies designed to assess the effect of immunotherapies. PMID:11739846

  7. Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.

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    Vuslat Yilmaz

    Full Text Available Neuromuscular transmission failure in myasthenia gravis (MG is most commonly elicited by autoantibodies (ab to the acetylcholine receptor or the muscle-specific kinase, constituting AChR-MG and MuSK-MG. It is controversial whether these MG subtypes arise through different T helper (Th 1, Th2 or Th17 polarized immune reactions and how these reactions are blunted by immunosuppression. To address these questions, plasma levels of cytokines related to various Th subtypes were determined in patients with AChR-MG, MuSK-MG and healthy controls (CON. Peripheral blood mononuclear cells (PBMC were activated in vitro by anti-CD3, and cytokines were quantified in supernatants. In purified blood CD4+ T cells, RNA of various cytokines, Th subtype specific transcription factors and the co-stimulatory molecule, CD40L, were quantified by qRT-PCR. Plasma levels of Th1, Th2 and Th17 related cytokines were overall not significantly different between MG subtypes and CON. By contrast, in vitro stimulated PBMC from MuSK-MG but not AChR-MG patients showed significantly increased secretion of the Th1, Th17 and T follicular helper cell related cytokines, IFN-γ, IL-17A and IL-21. Stimulated expression of IL-4, IL-6, IL-10 and IL-13 was not significantly different. At the RNA level, expression of CD40L by CD4+ T cells was reduced in both AChR-MG and MuSK-MG patients while expression of Th subset related cytokines and transcription factors were normal. Immunosuppression treatment had two effects: First, it reduced levels of IL12p40 in the plasma of AChR-MG and MuSK-MG patients, leaving other cytokine levels unchanged; second, it reduced spontaneous secretion of IFN-γ and increased secretion of IL-6 and IL-10 by cultured PBMC from AChR-MG, but not MuSK-MG patients. We conclude that Th1 and Th17 immune reactions play a role in MuSK-MG. Immunosuppression attenuates the Th1 response in AChR-MG and MuSK-MG, but otherwise modulates immune responses in AChR-MG and Mu

  8. Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.

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    Yilmaz, Vuslat; Oflazer, Piraye; Aysal, Fikret; Durmus, Hacer; Poulas, Kostas; Yentur, Sibel P; Gulsen-Parman, Yesim; Tzartos, Socrates; Marx, Alexander; Tuzun, Erdem; Deymeer, Feza; Saruhan-Direskeneli, Güher

    2015-01-01

    Neuromuscular transmission failure in myasthenia gravis (MG) is most commonly elicited by autoantibodies (ab) to the acetylcholine receptor or the muscle-specific kinase, constituting AChR-MG and MuSK-MG. It is controversial whether these MG subtypes arise through different T helper (Th) 1, Th2 or Th17 polarized immune reactions and how these reactions are blunted by immunosuppression. To address these questions, plasma levels of cytokines related to various Th subtypes were determined in patients with AChR-MG, MuSK-MG and healthy controls (CON). Peripheral blood mononuclear cells (PBMC) were activated in vitro by anti-CD3, and cytokines were quantified in supernatants. In purified blood CD4+ T cells, RNA of various cytokines, Th subtype specific transcription factors and the co-stimulatory molecule, CD40L, were quantified by qRT-PCR. Plasma levels of Th1, Th2 and Th17 related cytokines were overall not significantly different between MG subtypes and CON. By contrast, in vitro stimulated PBMC from MuSK-MG but not AChR-MG patients showed significantly increased secretion of the Th1, Th17 and T follicular helper cell related cytokines, IFN-γ, IL-17A and IL-21. Stimulated expression of IL-4, IL-6, IL-10 and IL-13 was not significantly different. At the RNA level, expression of CD40L by CD4+ T cells was reduced in both AChR-MG and MuSK-MG patients while expression of Th subset related cytokines and transcription factors were normal. Immunosuppression treatment had two effects: First, it reduced levels of IL12p40 in the plasma of AChR-MG and MuSK-MG patients, leaving other cytokine levels unchanged; second, it reduced spontaneous secretion of IFN-γ and increased secretion of IL-6 and IL-10 by cultured PBMC from AChR-MG, but not MuSK-MG patients. We conclude that Th1 and Th17 immune reactions play a role in MuSK-MG. Immunosuppression attenuates the Th1 response in AChR-MG and MuSK-MG, but otherwise modulates immune responses in AChR-MG and MuSK-MG patients

  9. The molecular anatomy of human Hsp60 and its similarity with that of bacterial orthologs and acetylcholine receptor reveal a potential pathogenetic role of anti-chaperonin immunity in myasthenia gravis.

    Science.gov (United States)

    Gammazza, Antonella Marino; Bucchieri, Fabio; Grimaldi, Luigi M E; Benigno, Arcangelo; de Macario, Everly Conway; Macario, Alberto J L; Zummo, Giovanni; Cappello, Francesco

    2012-08-01

    Heat-shock protein 60 (Hsp60) is ubiquitous and highly conserved being present in eukaryotes and prokaryotes, including pathogens. This chaperonin, although typically a mitochondrial protein, can also be found in other intracellular sites, extracellularly, and in circulation. Thus, it can signal the immune system and participate in the development of inflammation and immune reactions. Both phenomena can be elicited by human and foreign Hsp60 (e.g., bacterial GroEL), when released into the blood by infectious agents. Consequently, all these Hsp60 proteins become part of a complex autoimmune response characterized by multiple cross reactions because of their structural similarities. In this study, we demonstrate that Hsp60 proteins from humans and two common pathogens, Chlamydia trachomatis and Chlamydia pneumoniae, share various sequence segments of potentially highly immunogenic epitopes with acetylcholine receptor α1 subunit (AChRα1). The structural data indicate that AChRα1 antibodies, implicated in the pathogenesis of myasthenia gravis, could very well be elicited and/or maintained by self- and/or bacterial Hsp60.

  10. Advances of Speciifc Targeting Immunotherapy in Myasthenia Gravis%靶向性特异性免疫治疗与重症肌无力的研究进展

    Institute of Scientific and Technical Information of China (English)

    敬思思; 赵重波; 朱雯华

    2015-01-01

    Myasthenia gravis (MG) is an antibody mediated, cellular dependent and complement involved acquired autoimmune disorder of the neuromuscular junction. Cholinesterase inhibitors and immunosuppressant are the mainstay of treatment. However, some refractory MG patients still cannot benefit from the conventional treatment. Recently, the emerging specific targeting immunotherapy may provide new treatment options for MG. This review summarized the progress in this ifeld.%重症肌无力是由抗体介导、细胞免疫依赖、补体参与的累及神经-肌肉接头的获得性自身免疫性疾病。胆碱酯酶抑制剂和免疫抑制剂是目前治疗重症肌无力的主要药物,但仍有部分难治性重症肌无力患者不能从中获益,近些年新兴的靶向性特异性免疫治疗可能对此类病例提供新的治疗契机,本文综述该领域研究进展。

  11. Myasthenia and related disorders of the neuromuscular junction

    OpenAIRE

    Spillane, Jennifer; Beeson, David J; Kullmann, Dimitri M.

    2010-01-01

    Abstract Our understanding of transmission at the neuromuscular junction has increased greatly in recent years. We now recognise a wide variety of autoimmune and genetic diseases that affect this specialised synapse, causing muscle weakness and fatigue. These disorders greatly affect quality of life and rarely can be fatal. Myasthenia Gravis is the most common disorder and is most commonly caused by auto-antibodies targeting postsynaptic acetylcholine receptors (AChRs). Antibodie...

  12. Rapsyn对正常及实验性自身免疫性重症肌无力小鼠乙酰胆碱受体的作用%Effect of rapsyn on acetylcholine receptor in normal and experimental autoimmune myasthenia gravis mice

    Institute of Scientific and Technical Information of China (English)

    付裕; 刘红; 周瑞瑞; 滕银燕; 张旭

    2012-01-01

    AIM: To invesligale lhe effecl of acelylcholine receplor - associated prolein al synapse (rapsyn) on acelylcholine receplor (AChR) in normal mice and mice wilh experimental auloimmune myaslhenia gravis (EAMG). METHODS: The lefl hind limb of each mouse was injecled wilh pcDNA - rapsyn al 8 ~ 10 siles equally spread over lhe muscle, and lhe righl hind limb was injecled wilh lhe same volume of 0.9% NaCl. Two weeks afler eleclropermeabiliza-lion, 36 mice were divided inlo 2 groups; lhe mice in group E were inlraperiloneally injecled wilh 0.5 mL 40 -fold concentrated cell cullure supernalanl of mAb35, and lhe mice in group C were inlraperiloneally injecled wilh lhe same volume of 0. 9% NaCl. The animals were killed 48 h afler injection. The libialis anterior muscles and calf muscles of bilaleral hind limbs were isolated. The muscles of lefl hind limb received rapsyn plasmid were LE group and LC group, and the muscles of righl hind limb muscles pcDNA - received 0. 9% NaCl were RE group and RC group. The expression of AChR and rapsyn at lhe mouse muscle endplate was delected by immunofluorescence slaining. The expression of AChRct at mRNA and prolein levels was detected by RT - PCR and Western blotling, respectively. RESULTS: The prolein expression of AChRct was higher in LC group than lhat in RC group ( P 0. 05 ) . The mRNA expression of AChRct was significantly lower in LE group lhan thai in RE group ( P 0.05),LE组与RE组相比AChRα mRNA表达有明显降低(P<0.01).结论:在肌肉组织内上调rapsyn蛋白的表达对正常及EAMG小鼠AChR受体发挥保护性作用.

  13. Corticosteroides no tratamento da miastenia grave. Estudo de 12 casos com revisão da literatura Corticosteroids in the management of myasthenia gravis

    Directory of Open Access Journals (Sweden)

    José Lamartine de Assis

    1975-03-01

    Full Text Available Foram estudados os resultados do tratamento da miastenia grave em 12 pacientes, sendo 10 com a forma generalizada severa, um com a forma generalizada moderada e um com miastenia acentuada associada a polimiosite. Sete pacientes foram previamente timectomizados e somente um apresentava timoma. Todos estavam em uso de doses elevadas de drogas anticolinesterásicas com resposta terapêutica pobre ou nula. Um paciente foi tratado com dexametaxona, outro com dexametazona seguida de prednisona e os restantes com prednisona, sempre em doses altas inicialmente (100 mg por dia ou em dias alternados e com redução gradativa ulterior até doses de manutenção. Os corticosteróides foram administrados sempre pela via oral, por períodos que variaram de duas semanas até dois anos e meio. Em conclusão, 75% de 12 pacientes com miastenia grave generalizada foram influenciados favoravelmente com este método terapêutico. Deste grupo apenas um apresentava timoma e não respondeu a qualquer tratamento. Outro paciente apresentava polimiosite associada e teve excelente resposta terapêutica. Dois miastênicos sem timoma tiveram a sintomatologia exacerbada durante o tratamento. Nenhum efeito colateral importante foi observado, mesmo nos pacientes tratados a longo prazo.The results of treatment of myasthenia gravis in 12 patients are reported. There were 10 cases with severe generalized form and two cases with moderate generalized form, one of which associated with polymyositis. Seven patients had prior thymectomy and one of them had a thymoma. All the patients were receiving anticholinesterase drugs with poor response or without any response. One patient received a short, intensive course of dexametazone, and other patient used prednisone after a more prolonged dexametazone course. The remaining patients received prednisone, always beginning with high (100 mg alternate day oral single-doses. This therapy has been maintained for a period thought to be sufficient

  14. Associação familiar de miastenia grave e síndrome miotônica Familial association of myasthenia gravis and myotonic syndrome

    Directory of Open Access Journals (Sweden)

    Sylvio Saraiva

    1969-12-01

    Full Text Available É relatada uma associação familiar incomum, incidindo em mãe e filha, a primeira com síndrome miotônica e, a segunda, com miastenia grave, forma ocular. Um terceiro membro da família, irmão da paciente com miotonia, teria também manifestações dessa síndrome. São comentados aspectos clínico-laboratoriais dos casos estudados.An uncommon association of myasthenia gravis in a child and a myotonic syndrome in her mother is reported. A brother of the second patient probably had myotonic symptomatology. Clinical and laboratorial aspects are discussed.

  15. Effect of intravenous immunoglobulin in Guilain-Barre syndrome, myasthenia gravis and chronic idiopathic demyelinative polyneuropathy, A survey in Imam Khomeini Hospital

    Directory of Open Access Journals (Sweden)

    Qaffarpoor M

    1999-09-01

    Full Text Available With retrospective evaluation of 44 patients suffering from Guilan-Barre Syndrome (GBS, Chronic Idiopathic Demtyelinative Polyradiculoneuropathy (CIDP and Myasthenia Gravis (MG treated with intravenous immunoglobulin, we found following results: 1 Initial symptoms of improvement on forth or fifth days. 2 Maximum recovery for CIDP and MG were after 16-24 and 3-11 days, respectively. 3 No major complication, but mild side effects in 32% of patients. 4 In patients with GBS one grade improvement achieved after 8-30 days. 5 Intravenous immunoglobulin (IVIG plus plasmapheresis had no advantages over IVIG alone. 6 No reasonable conclusion about relapsing rate and duration of response due to follow up restrictions.

  16. Myasthenia Gravis Fact Sheet

    Science.gov (United States)

    ... good. Eat healthy foods from all the major food groups. Return to top What research is being done? The National Institute of Neurological Disorders and Stroke, within the National Institutes of Health, conducts and supports research on MG. Research findings have ...

  17. Coexistence of autoimmune diseases and autoantibodies in patients with myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Sibel Tamer

    2016-01-01

    Conclusions: MG has an increased frequency of coexisting ADs. Autoantibodies that are characteristic for ADs can be found in the patients without the presence of any of the clinical findings of ADs. Clinical attention towards the management of ADs is especially needed during the follow-up of patients with MG.

  18. Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials

    Science.gov (United States)

    Vrinten, Charlotte; Lipka, Alexander F; van Zwet, Erik W; Schimmel, Kirsten J M; Cornel, Martina C; Kuijpers, Marja R; Hekster, Yechiel A; Weinreich, Stephanie S; Verschuuren, Jan J G M

    2015-01-01

    Introduction Myasthenia gravis (MG), a rare neuromuscular disease, is often initially treated using acetylcholinesterase inhibitors. Patients who do not respond adequately depend on the use of corticosteroids or other immunosuppressive medication, but these may have serious side effects. Clinical observations suggest that ephedrine can diminish, postpone or even prevent the need for immunosuppressive therapy when added to acetylcholinesterase inhibitors or low-dose prednisone. In the Netherlands, ephedrine is not licensed for MG nor is reimbursement guaranteed. MG is a rare condition, and ephedrine might be indicated only in a subset of patients. Thus, randomised controlled trials comparing large groups are difficult to conduct. We, therefore, aim to aggregate data from a small series of n-of-1 trials (also known as single patient trials) to assess the effect of ephedrine as add-on treatment for MG. Methods and analysis Single-centre, placebo-controlled, double-blind, randomised, multiple crossover n-of-1 studies in 4 adult patients with generalised MG who show inadequate improvement on pyridostigmine and/or immunosuppressive drugs. Each n-of-1 trial has 3 cycles of two 5-day intervention periods. Treatment: 25 mg ephedrine or placebo, twice daily. Main outcome measure: Quantitative Myasthenia Gravis (QMG) test. Statistical analysis: fixed effects linear model for QMG for all patients combined. Secondary outcome measures: Clinical: effects on MG-Composite and MG-Activities of Daily Living (MG-ADL) scales; QMG at individual level; adverse events. Acceptability of trial design: number of patients eligible and enrolled; number of treatment cycles completed; patients’ and caregivers’ experiences. Ethics and dissemination This study was approved by the Medical Ethics Committee of Leiden University Medical Center, No. P14.108. Results of the trial will be reported in a peer-reviewed publication. Regulatory stakeholders will comment on the suitability of the trial

  19. Neuroelectrophysiological studies on neurological autoimmune diseases

    Directory of Open Access Journals (Sweden)

    Yin-hong LIU

    2014-09-01

    Full Text Available The neuroelectrophysiological manifestations of four clinical typical neurological autoimmune diseases including multiple sclerosis (MS, Guillain-Barré syndrome (GBS, myasthenia gravis (MG, and polymyositis and dermatomyositis were reviewed in this paper. The diagnostic value of evoked potentials for multiple sclerosis, nerve conduction studies (NCS for Guillain-Barré syndrome, repetitive nerve stimulation (RNS and single-fiber electromyography (SFEMG for myasthenia gravis, and needle electromyography for polymyositis and dermatomyositis were respectively discussed. This review will help to have comprehensive understanding on electrophysiological examinations and their clinical significance in the diagnosis of neurological autoimmune diseases. doi: 10.3969/j.issn.1672-6731.2014.09.004

  20. Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection

    OpenAIRE

    Li, Fang-Yuan

    2001-01-01

    Identification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). The purpose of this study was to elucidate the genetic backgrounds of autosomal dominant progressive external ophthalmoplegia (adPEO) and familial inyasthenia gravis (FMG). The methods applied in this study for linkage analysis and repeat expansion we...

  1. Plasmapheresis as preparatory method for thymectomy in myasthenia gravis Plasmaferese como método preparatório de timectomia em miastenia grave

    Directory of Open Access Journals (Sweden)

    José Carlos Brant Seggia

    1995-09-01

    Full Text Available To study the effects of plasmapheresis in preparation for thymectomy, two groups of 40 patients were selected from a sample of 286 patients with myasthenia gravis examined by the first author Group 1 included patients (15 male and 25 female; age range 8-64 yrs who underwent thymectomy without previous plasmapheresis, whereas patients in group 2 (17 male and 23 female; age range 11-61 yrs were thymectomized after plasmapheresis. We required patients to have a minimum follow-up period of 12 months to be included in the study. A clinical evaluation protocol composed of 76 items was developed for the study. We found significant improvement in respiratory function and muscular strength in patients thymetomized after plasmapheresis. Furthermore, the combined treatment reduced cost and length of hospital stay. Therefore, we conclude that plasmapheresis should be considered as a coadjuvant to thymectomy in the treatment of myasthenia gravis.No intuito de estudar as repercussões de um curso de plasmaferese como método preparatório para a timectomia, tomamos duas amostras de 40 pacientes selecionados de um universo de 286 casos de miastenia gravis, em que a investigação clínica, eletrofisiológica, laboratorial, o seguimento e o protocolo foram completamente realizados. Consideramos como grupo 1 aquele em que a timectomia foi realizada sem preparação pre-operatória e grupo 2 aquele em que a plasmaferese foi executada como coadjuvante a timectomia. O grupo 1 era composto de 15 pacientes do sexo masculino e 25 do feminino; a idade variou de 8 a 64 anos com mediana de 30 anos. No segundo grupo, 17 eram masculinos e 23 femininos; a idade variou de 11 a 61 anos com mediana de 33 anos. Foi preenchida ficha de avaliação clínica sequencial de 76 itens e traçamos um curso de plasmaferese de 5 sessões seguido da timectomia, mantendo a mesma técnica operatória, realizada pela mesma equipe cirúrgica, tentando assim minimizar as distorções na an

  2. Autoimmune disease and the nervous system. Biochemical, molecular, and clinical update.

    OpenAIRE

    Merrill, J E; Graves, M C; Mulder, D. G.

    1992-01-01

    Autoimmunity in the central and peripheral nervous system can manifest as the result of cellular or humoral immune responses to autoantigens. There is evidence that multiple sclerosis is a cell-mediated autoimmune disease of the central nervous system in which both myelin and the cell that produces the myelin are destroyed. Diseases such as acute inflammatory demyelinating polyneuropathy (also called Guillain-Barré syndrome) and myasthenia gravis are considered antibody-mediated diseases of t...

  3. Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II

    Directory of Open Access Journals (Sweden)

    Subodh Banzal

    2014-01-01

    Full Text Available Autoimmune polyendocrine syndrome Type II (APS II, also known as polyglandular autoimmune syndrome Type II or Schmidt syndrome, is constellations of multiple endocrine gland insufficiencies. It is a rare, but most common of the immunoendocrinopathy syndrome. It is characterized by the obligatory occurrence of autoimmune Addison′s disease in combination with thyroid autoimmune diseases and/or Type I diabetes, hypogonadism, hypophysitis, myasthenia gravis, vitiligo, alopecia, pernicious anemia, and celiac disease. Here, we report a case of 38-year-old female patient presented with shock, further diagnosed to have APS II.

  4. Miastenia gravis diagnostic in dogs

    Directory of Open Access Journals (Sweden)

    Adriana Patricia Suraniti

    2010-12-01

    Full Text Available Miastenia Gravis is a neuromuscular disease caused by auto antibodies. Early Clinical and biochemical diagnosis and treatment is demanded in the assurementof quality and time of life in all dogs. In this study we describe the conventional diagnosis methods and therapy in 32 dogs with suspected myasthenia gravis and propose the administration of bromide of piridostigmin as another use full diagnosis method in dogs.

  5. Expression of a highly antigenic and native-like folded extracellular domain of the human α1 subunit of muscle nicotinic acetylcholine receptor, suitable for use in antigen specific therapies for Myasthenia Gravis.

    Directory of Open Access Journals (Sweden)

    Athanasios Niarchos

    Full Text Available We describe the expression of the extracellular domain of the human α1 nicotinic acetylcholine receptor (nAChR in lepidopteran insect cells (i-α1-ECD and its suitability for use in antigen-specific therapies for Myasthenia Gravis (MG. Compared to the previously expressed protein in P. pastoris (y-α1-ECD, i-α1-ECD had a 2-fold increased expression yield, bound anti-nAChR monoclonal antibodies and autoantibodies from MG patients two to several-fold more efficiently and resulted in a secondary structure closer to that of the crystal structure of mouse α1-ECD. Our results indicate that i-α1-ECD is an improved protein for use in antigen-specific MG therapeutic strategies.

  6. Plasmapheresis in the treatment of myasthenia gravis: retrospective study of 26 patients Plasmaférese no tratamento da miastenia grave: estudo retrospectivo de 26 pacientes

    Directory of Open Access Journals (Sweden)

    Rosana Carandina-Maffeis

    2004-06-01

    Full Text Available We analyzed the experience of Unicamp Clinical Hospital with plasma exchange (PE therapy in myasthenia gravis (MG. About 17.8 % of a totality of MG patients had PE performed: 26 cases, 19 women and seven men. The mean age-onset of MG was 28 years, extremes 11 and 69. Minimum deficit observed in the group was graded IIb (O & G or IIIa (MGFA scale. One patient had prethymectomy PE. In seven the procedures were performed due to myasthenic crisis and in 18 patients due to severe myasthenic symptoms or exacerbation of previous motor deficit. Two patients were also submitted to chronic PE considering refractoriness to other treatments. Twenty-six patients had 44 cycles of PE and 171 sessions. The mean number of sessions was 3.9 (SD ± 1.4 each cycle; median 5, extremes 2 and 6. The mean time by session was 106,5 minutes (SD ± 35.2; median 100.5 (extremes of 55 and 215. The mean volume of plasma exchanged in each session was 2396 ml (SD ± 561; median 2225 (extremes 1512 and 4500. Side effects occurred: reversible hypotension (seven cases, mild tremor or paresthesias (seven cases. Infection and mortality rates due to PE were zero. All patients had immediate benefit of each PE cycle and usually they also received prednisone or other immunosuppressors. Good acceptance of the procedure was observed in 80.7% of patients.Analisamos a experiência do Hospital das Clínicas da Unicamp com plasmaferese: (PF na miastania grave (MG. 17,8 % do total dos casos de MG submeteu-se a PF, 26 casos, 19 mulheres e sete homens. A idade média de início da MG foi 28 anos (extremos 11 e 69. O menor déficit clínico foi IIb (O & G e IIIa (MGFA. A PF foi indicada no pré-operatório de timectomia em um caso e em sete devido a crise miastênica. Em 18 casos, com MG generalizada e sintomas bulbares ou com exacerbação de déficit prévio, a PF foi indicada como intervenção aguda. Em dois pacientes desse grupo ela foi indicada também em regime crônico de ciclos mensais

  7. Clinical features of atypical ocular myasthenia gravis%不典型眼肌型重症肌无力的临床特点

    Institute of Scientific and Technical Information of China (English)

    徐肖; 狄晴

    2011-01-01

    Objective To study the clinical features of atypical ocular myasthenia gravis (OMG).Methods The data of 29 patients with atypical OMG were retrospectively analyzed.Results In this group, 3 cases had ptosis,15 cases had a ophthalmoplegia, and 1 case had 3 ophthalmoplegia in both sides, 1 case had complete ophthalmoplegia in one side, 2 cases had convergence disorder, 1 case had paralysisofrbicularis in one side, 6 cases had similarity eye disease (4 cases had double vision, and 2 cases had only complained of eye discomfort and blurred vision, but had no ophthalmoplegia), and 12 cases (41.4%) had symptoms sever during period of activity and improved after rest ( symptoms fluctuating).Twenty-six patients ( 89.7% ) were positive in the neostigrnine test.Eight patients (27.6%) were positive in the low frequency repetitive nerve stimulation (RNS).Twenty-three patients (79.3%) were abnormal in the simple fiber electromyogram (SFEMG).All of the patients in prophase were misdiagnosed.After treating with Prednisone and/or inhibitor acetylcholinesterase, the symptoms were disappeared in 26 cases(89.7% ), remarkably improved in 3 cases( 10.3% ).Conclusion The clinical features of atypical OMG are that the affected eye flesh is few, and symptom is localization, and the rate of symptom fluctuating is low.The neostigmine test and SFEMG must can be diagnosed.%目的 研究不典型眼肌型重症肌无力(13MG)的临床特点.方法 回顾性分析29例不典型OMG患者的临床资料.结果 本组患者表现为上眼睑下垂3例,单眼1条眼外肌瘫痪15例,双眼3条眼外肌瘫痪1例,单眼全部眼外肌瘫痪1例,辐辏障碍2例,单眼眼轮匝肌瘫痪1例,类似眼病表现6例(复视4例、眼部不适和视物模糊2例,均无眼外肌瘫痪);有晨轻暮重表现12例(41.4%).新斯的明试验阳性26例(89.7%),低频重复神经电刺激阳性8例(27.6%),单纤维肌电图(SFEMG)异常23例(79.3%).患者早期均被误诊.经泼尼松和/或胆碱

  8. 重症肌无力患者嗅觉功能与临床特征分析%Evaluations of olfactory function for myasthenia gravis patients

    Institute of Scientific and Technical Information of China (English)

    李欣; 杨丽; 张璘洁; 付莹; 李立敏

    2015-01-01

    Objective To explore the olfactory function of patients with myasthenia gravis (MG) and analyze the correlation between olfactory dysfunction and clinical characteristics.Methods A total of 61 MG patients from March to July 2014 and 32 healthy controls (HC) received T&T olfactometer test.Their clinical data were collected.And the relationship of T&T score and clinical characteristics were analyzed.Results The identification threshold of T&T olfactometer test was (2.07 ± 1.56) versus (0.31 ±1.25) for healthy controls.MG patients had a worse performance on olfaction test than healthy controls (t =5.50,P < 0.01).By Spearman' s analysis,disease course (r =1.348,P =0.006),QMG scores (r =0.393,P =0.025),ADL scores (r =0.421,P =0.01) and dosing time of pyridostigmine (r =0.295,P=0.025) were positively correlated with T&T scores.However,the dosing times of prednisone (r =0.084,P =0.053) or immunodepressants (r =0.153,P =0.251) were not correlated with T&T scores.Conclusion MG patients have poor olfactory sensation.And a potential involvement of non-motor system shall attract the attention of neurologists.%目的 探讨重症肌无力(MG)患者嗅觉功能及其与临床特征的相关性.方法 利用T&T嗅觉检测法对自2014年3-7月在天津医科大学总医院神经内科确诊的61例重症肌无力患者和32名健康对照进行嗅觉检测,收集MG患者临床信息,利用Spearman相关性分析嗅觉功能与临床特征的相关性.结果 重症肌无力患者嗅觉识别阈为(2.07±1.56),健康对照嗅觉识别阈为(0.31±1.25),二者差异具有统计学意义(t=5.50,P<0.01),Spearman相关分析显示重症肌无力患者嗅觉水平与病程(r =0.348,P=1.006)、疾病严重程度定量(QMG)评分(r=0.393,P=0.025)、每日生存活动等级(ADL)评分(r=0.421,P=0.01)和累计服用溴吡斯的明的时间(r=0.295,P=0.025)呈正相关;与累计服用泼尼松时间(r=0.084,P=0.053)、服用免疫抑制剂时间(r=0.153,P=0.251)无相关性.结论

  9. Muscle strength in myasthenia gravis

    DEFF Research Database (Denmark)

    Cejvanovic, S; Vissing, J

    2014-01-01

    % of normal). Muscle strength and disease duration were not related. CONCLUSIONS: These findings show that patients with generalized MG have (i) a significant generalized, fixed muscle weakness, (ii) that male patients with MG have a more severe muscle weakness than women, (iii) that proximal upper limb...... is related to disease duration or gender. The aim of this study was to quantify the strength of patients with MG and investigate whether it is related to disease duration. METHODS: Eight muscle groups were tested by manual muscle testing and with a hand-held dynamometer in 38 patients with generalized MG...... and 37 healthy age- and gender-matched controls. The disease duration was recorded and compared with strength measures. RESULTS: On average, muscle strength was decreased by 28% compared with controls (Pstrength measures in individual patients did not differ, suggesting that the muscle...

  10. Myasthenia Gravis (MG): Medical Management

    Science.gov (United States)

    ... also can lead to increased weakness in MG. Immunosuppressant drugs Corticosteroids. These drugs (which include prednisone and ... inhibitors, but they’re faster than some other immunosuppressants, producing improvement within weeks to months. They’re ...

  11. Emergency Management of Myasthenia Gravis

    Science.gov (United States)

    ... restlessness, fatigue Evaluate • Airway patency • Strength of cough • Respiratory rate & effort • Cardiac status • Skin and nailbed color and ... oral secretions or retained food • Strength of cough • Respiratory rate and effort • Cardiac status • Speech effort and quality ...

  12. Associated Autoimmune Diseases

    Science.gov (United States)

    ... skin, aching, fever, mental confusion, and cirrhosis. Myasthenia Gravis Adisease involving muscle function in which nerve impulses ... gluten-related disorders or other medical conditions. For questions about these conditions consult with your healthcare team ...

  13. Megaesophagus secondary to myasthenia gravis in a female German shepherd dog/ Megaesôfago secundário a miastenia grave em uma cadela da raça Pastor Alemão

    Directory of Open Access Journals (Sweden)

    Osimar Sanches

    2007-08-01

    Full Text Available Megaesophagus is a common cause of regurgitation being one of the possible etiologies the myasthenia gravis characterized by a neuromuscular disorder that result in weakness of the skeletal muscles, of the esophagus, of the larynx and of the pharynx. The present report describes a case of a female German shepherd dog, with report of muscles weakness and frequent vomits, which was diagnosed as a megaesophagus secondary to myasthenia gravis. The radiograph of the animal presented an accentuated cervical and thoracic megaesophagus. After the institution of the recommended therapeutic protocol the animal presented visible improvement when walking, however the regurgitations worsened and it began to present cough. New radiograph was accomplished with presence, besides megaesophagus, of aspiration pneumonia. The owner opted for the euthanasia of the animal and the necropsy revealed severe pneumonia and an accentuated dilation of the posterior portion of the esophagus, collaborating with subsidies for an unfavorable prognostic of the case.Megaesôfago é uma causa comum de regurgitação sendo uma das possíveis etiologias a miastenia grave caracterizada por uma desordem neuromuscular que resulta em fraqueza dos músculos esqueléticos, do esôfago, da laringe e da faringe. O presente relato descreve um caso de uma cadela da raça Pastor Alemão, com histórico de fraqueza muscular e vômitos freqüentes, que foi diagnosticada como megaesôfago secundário à miastenia grave. A radiografia do animal apresentou um acentuado megaesôfago cervical e torácico. Após a instituição do protocolo terapêutico recomendado o animal apresentou melhora visível ao caminhar, porém as regurgitações pioraram e começou a apresentar tosse. Foi realizado novo exame radiográfico com presença, além de megaesôfago, de pneumonia aspirativa. A proprietária optou pela eutanásia do animal e a necropsia revelou severa pneumonia e dilatação acentuada da por

  14. Pharmaceutical care on one Old Patient with Myasthenia Gravis and Pulmonary Infection%一例高龄重症肌无力伴肺感染患者的药学监护

    Institute of Scientific and Technical Information of China (English)

    范景辉; 李志平; 李海燕; 赵玉梅

    2015-01-01

    Objective To explore the method of pharmaceutical care for promoting rational drug use.Methods The pharmaceutical care was given to a patient with myasthenia gravis and pulmonary infection,in the aspects of the formulation of anti-infective regimen,cardiovascular drugs.The process and experiences were recorded.Results Clinical pharmacist regarded choice of antimicrobial drug,drug interaction and adverse drug reactions as pharm-aceutical care entry point according to clinical situation.The potential risk of drug therapy was avoided and the problem of drug therapy was solved.Reasonable pharmaceutical care can improve the effect of the treatment of myasthenia gravis.Conclusion For carrying out pharmaceutical care,it is useful to set up key points of pharmaceutical care,communicate with physician in time,and ensure the safety and effectiveness of the patients treatment.%目的 探讨临床药学监护方法,促进药物合理应用.方法 对1例重症肌无力伴肺部感染患者的抗感染及心血管用药方案制订等方面,进行药物治疗监护.结果 临床药师将抗菌药物的选择、药物相互作用及不良反应作为药学监护的切入点.避免了潜在的药物治疗风险,解决了药物治疗存在的问题.合理的药学监护可提高重症肌无力患者的治疗效果.结论 建立并完善用药监护要点,及时与医师沟通,充分发挥药学专业技能,有利于患者的用药安全有效.

  15. 重症肌无力合并抑郁78例相关因素分析%Study of incidence and correlation factors of depression in patients with myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    刘慧华

    2014-01-01

    Objective:To investigate the incidence rate and correlation factors of depression in patients with myasthenia gravis( MG) . Methods:Seventy-eight MG patients were assessed and graded with Hamilton Depression Rating scale,activities of daily living and self-designed register form. The correlation factors were analyzed by logistic regression. Results:The overall incidence rate was 60. 3%. The minor,moderate and major incidence was 44. 7%,34. 0% and 21. 3% respectively. The main manifestations of depression were anxiety/body,retardation,hopelessness and insomnia. The regression analysis showed that factors accounted for the occurrence of MG with depression were gender, score of activities of daily living and pyridostigmine bromide dose. Conclusions:The incidence of depression was high in MG patients. Depression with MG had a multifactorial etiology.%目的:探讨重症肌无力( myasthenia gravis,MG)合并抑郁的特点及其相关因素。方法:对78例MG患者采用汉密顿抑郁量表、MG日常生活能力量表及自制一般情况调查表进行测查并对各因素进行相关统计分析。结果:MG患者合并抑郁的发生率为60.3%,其中轻度抑郁44.7%,中度抑郁34.0%,重度抑郁21.3%,其抑郁情绪主要表现为焦虑/躯体化、阻滞、绝望及睡眠障碍等。 MG合并抑郁相关因素为性别(OR=1.198)、日常生活能力量表评分(OR=2.213)和溴吡斯的明使用量(OR=1.997)。结论:MG患者抑郁发生率较高,MG合并抑郁状态是多种因素共同作用所致。

  16. Management of pregnancy with myasthenia gravis: 7 cases report%妊娠合并重症肌无力七例临床分析

    Institute of Scientific and Technical Information of China (English)

    戚庆炜; 王丹; 刘俊涛; 边旭明

    2012-01-01

    诊至儿科严密监护.%Objective To discuss the interaction of pregnancy and myasthenia gravis(MG) and the management of pregnancy with MG.Methods Seven cases of pregnancy with MG in Peking Union Medical College Hospital were analyzed retrospectively,with respect to the therapy of MG,pregnancy complications and outcomes.Results Totally 38 683 pregnant women were admitted to Peking Union Medical College Hospital between Oct.1983 and Oct.2010.Among them there were 9 patients suffered from MG,with the incidence of 0.023%.Two pregnancies were terminated because of personal reasons,and seven continued.( 1 ) Onset of MG:in the 7 cases,6 were diagnosed before conception,with the mean course of 5.9 years.The other one occurred in the third trimester.(2) Management:all the cases were under close surveillance during pregnancy.Four women took thymectomy before conception,and one of them kept taking medication after surgery. In those who received thymectomy,3 cases remained stable and 1 case worsened during prenancy.The latter one took medication at 33 weeks,and continued to full term.MG exacerbated in the other three women who had not undergone thymectomy before conception.Among them, one woman complicated with systemic lupus erythematosus and lupus nephritis delivered the baby at 31 weeks.(3) Delivery and neonatal outcomes:cesarean deliveries were performed in 5 cases and the other two underwent vaginal deliveries.All the newborns were admitted to neonatal intensive care unit for surveillance.There were three smaller than gestational week (SGA) infants.No MG was observed in newborns.Conclusions Patients with MG should have an overall evaluation before conception.The course of MG during pregnancy is unpredictable.They may get a promising outcome under the control of a multidisciplinary team including obstetricians and neurologists.Newborns should be carefully monitored for sings of transitory MG in the department of pediatrics.

  17. 发生胆碱能危象的重症肌无力危象患者抢救成功1例%Cholinergic Crisis of Myasthenia Gravis Crisis Patients Rescue Success in 1 Case

    Institute of Scientific and Technical Information of China (English)

    张妍; 于馥伟; 孙悦; 绪红; 李英

    2016-01-01

    Myasthenia gravis (MG) is common in clinic, when its in cholinergic crisis after the disease is dangerous, should be timely diagnosis and offer effective emergency treatment. Once confirmed, the patients should immediately stop using cholinesterase inhibitor, the so-called dry therapy, 0.5 ~ 1 mg intravenous injection atropine, at the same time when the patients to the ICU should be closely monitoring, to closely observe patient vital signs, prompting patients turned the corner.%重症肌无力(MG)在临床中十分常见,当其出现胆碱能危象后病情十分凶险,需及时明确诊断并给予有效抢救。患者一旦确诊,即应立即停用胆碱酯酶抑制剂,即所谓的干涸疗法,同时静脉注射阿托品0.5~1 mg,当患者送至ICU后应严密监护,对患者生命体征密切观察,促使患者转危为安。

  18. Evaluation of the respiratory function in myasthenia gravis: an important tool for clinical feature and diagnosis of the disease Avaliação da função respiratória na miastenia gravis: importância na caracterização clínica e no diagnóstico da doença

    Directory of Open Access Journals (Sweden)

    Paulo A. P. Saraiva

    1996-12-01

    Full Text Available Myasthenic gravis may affect both inspiratory and expiratory muscles. Respiratory involvement occurred in almost all patients with myasthenia gravis in all clinical forms of the disease: 332 lung function tests done in 324 myasthenic patients without respiratory symptoms (age 34.6 ± 18.3 years were examined. Lung volumes analysis showed that all the patients of both sexes with generalized or ocular myasthenia gravis showed "myasthenic pattern". Male patients with "ocular" form only presented the "myasthenic pattern" with lung impairment and had, from the lung function point of view, a more benign behaviour. Female patients with the "ocular" form exhibited a behaviour of respiratory variables similar to that of the generalized form. It was not observed modification of the variables that suggested obstruction of the higher airways. The "myasthenic pattern" was rarely observed in other neuromuscular diseases, except in patients with laryngeal stenosis.O comprometimento respiratório é fator limitante na evolução clinica da miastenia gravis (MG e as formas clínicas mais graves apresentavam acometimento bulbar e respiratório. Para avaliar a reserva respiratória foram examinados em 324 pacientes com MG (forma ocular 62, generalizada 246 e timomatosa 16 as seguintes variáveis da prova de função pulmonar (PFP: capacidade vital forçada (FVC; volume onde o fluxo expiratório é igual a 1 litro por segundo (VF=1; volume expiratório forçado no primeiro segundo (FEV1; fluxo expiratório forçado medido entre 0,2 e 1,2 litros (FEF; fluxo médio expiratório forçado, medido entre 25 e 75% da FVC (FMF; intervalo de tempo entre 25 e 75% da FVC (FMFT; tempo médio de trânsito na expiração forçada (MTT; capacidade pulmonar total (TLC; volume residual (RV; curva fluxo-volume para pesquisa do "padrão miastênico". A análise estatística realizada foi: "t pareado" entre paciente e seu padrão e "t não pareado" entre grupos. Conclusões: Todos os

  19. Anestesia peridural torácica para cirurgia plástica de mama em paciente portadora de miastenia gravis: relato de caso Anestesia peridural torácica para cirugía plástica de mama en paciente portadora de miastenia gravis: relato de caso Thoracic epidural anesthesia for mammaplasty in myasthenia gravis patient: case report

    OpenAIRE

    Fabiano Timbó Barbosa; Marta Cristiane Bezerra Correia; Rafael Martins da Cunha; Ismar Lima Cavalcanti

    2005-01-01

    JUSTIFICATIVA E OBJETIVOS: A miastenia gravis é uma doença crônica, auto-imune, caracterizada pela fraqueza da musculatura esquelética em decorrência da diminuição dos receptores de acetilcolina na junção neuromuscular. O objetivo deste relato é mostrar um caso de paciente com miastenia gravis submetida a anestesia peridural torácica para cirurgia plástica de mama. RELATO DO CASO: Paciente com 51 anos, portadora de miastenia gravis foi submetida a anestesia peridural torácica com bupivacaína ...

  20. Exploration on risk factors of perioperative tracheostomy in patients with myasthenia gravis having undergone thymectomy%重症肌无力围手术期气管切开的危险因素探讨

    Institute of Scientific and Technical Information of China (English)

    赵云平

    2001-01-01

    目的 探讨重症肌无力(MG)病人胸腺切除术围手术期行气管切开的适应症和相关危险因素。方法 回顾性分析我院自1980年4月至1999年8月因MG行胸腺切除术病人174例,44例于围手术期行气管切开,占总数25.3%,38例发生危象,占总数21.8%。分析了重症肌无力临床分型、病期、是否伴有胸腺瘤、术前肺功能情况和术前抗胆碱能药物用量等因素与肌无力危象之间的关系及需要行气管切开术的手术适应症。结果 MG病人病程长、服用抗胆碱能药物剂量大、临床分期为Ⅱb型以上、术前有肺功能损害及合并有胸腺瘤者,特别是伴有侵润型胸腺瘤的患者,术后发生危象较高,需气管切开的比例也相应较高。结论 重症肌无力病人胸腺切除术后发生危象,及时气管切开,人工呼吸器辅助呼吸是降低病死率的重要措施;术后立即预防性气管切开术应根据患者的病情严格掌握,不能滥用,以有利于病人恢复。%Objective To explore the risk factors and indications for perioperative tracheostomy in patients with myasthenia gravis. Methods A total of 174 patients with myasthenia gravis undergoing thymectomy were reviewed retrospectively between April 1980 and August 1999. Perioperative tracheostomy was performed on 44(25.3%) cases. Myasthenic or cholinergic crisis happened in 38 cases (21.8%). The relationship of the crisis incidence and Osserman classification, state of illness, present of thymoma, preoperative pulmoary function and the dose of anticholinergic agents given preoperatively were analyzed. At the same time the indications of perioperative tracheostomy were discussed. Results The highest incidence of myasthenic or cholinergic crisis and perioperative tracheostomy were found in cases with long history of the disease, high dose of anticholinergic agents administration, Osserman classification over stageⅡb, with infiltrated

  1. Detection of Serum Anti-MuSK Antibody in Patents with Myasthenia Gravis and its Clinical Significance%重症肌无力患者血清MuSK抗体水平检测及其临床意义

    Institute of Scientific and Technical Information of China (English)

    朱惠民; 张旭; 陈根强; 叶好好

    2011-01-01

    目的 探讨肌肉特异性酪氨酸激酶抗体(muscle specific tyrosine kinase antibody,MuSKAb)与血清抗体阴性 重症肌无力(seronegative myasthenia gravis,SNMG)的关系.方法 应用基因工程方法获得MuSK蛋白,建立MuSKAb的放射免疫法(IPA)检测体系.IPA法测定MG患者156例、健康对照组30例和非MG患者30例血清乙酰胆碱受体抗体(AChRAb)水平,测定34例SNMG患者血清及对照组血清MuSKAb水平.结果 ①在156例MG患者中,血清AChRAb阳性率为78.2%(122/156例),其AChRAb水平为(1.2703±0.8728)nmol/L,明显高于对照组的(0.2410±0.1098)nmol/L,P<0.01.②SPMG组病情严重程度、血清AChRAb水平明显高于SNMG组(P<0.01),SNMG组与SPMG组性别、发病年龄差异无统计学意义(P>0.05);③34例SNMG患者血清MuSKAb阳性率为0%(0/34例),但其血清MuSKAb水平(0.0283±0.0133)nmol/L明显高于对照组的(0.0141±0.0098)mmol/L,P<0.05.结论 血清MuSKAb在中国人MG中较低.%Objective To evaluate the clinical significance of serum anti muscle specific tyrosine kinase(MuSK) antibody level in diagnosing seronegative myasthenia gravis(SNMG).Methods Recombinant human MuSK(hMuSK) peptide was synthesized by genetic engineering technique.125I-hMuSK was iodinated by revised iodination labeling, then RIA of anti-hMuSK antibody was clinically established.The serum anti-AChR antibody was analyzed by IPA method in 156 cases of MG,30 cases of non-MG patients and 30 cases of health control group.After anti-AChR antibody detection, SNMG group was differentiated from SPMG group.Serum anti-MuSK antibody was detected by RIA.Results The positivity rate of serum anti-AChR antibody was 78.2% (122/156) ,Serum anti-AChR antibody levels[( 1.2703 ±0.8728 ) nmol/L]in all MG were significantly higher than (0.2410 ±0.1098) nmol/L in cantrol group( P <0.01 ).The clinical scores and serum anti-AChR antibody levels of SPMG were higher than those of SNMG( P <0.01 ).There was no statistical significance in

  2. [Directions for use of corticosteroids and calcineurin inhibitors against generalized myasthenia gravis: therapeutic strategies that can lead to early improvements and veer away from high-dose oral corticosteroids].

    Science.gov (United States)

    Utsugisawa, Kimiaki; Nagane, Yuriko; Suzuki, Shigeaki; Suzuki, Norihiro

    2012-01-01

    The advent of effective immune treatment has meant that myasthenia gravis (MG) is most often not lethal. However, many MG patients still find it difficult to maintain daily activities due to chronic residual fatigability and long-term side effects of medication, since full remission without immune treatment is not common. Our analysis demonstrated that disease severity, dose of oral corticosteroids, and depressive state are the major independent factors negatively associated with self-reported QOL (MG-QOL15-J score). It is noteworthy that oral corticosteroid, the first-line agent for MG, is negatively associated with patients' QOL. When the analysis took into account MGFA postintervention status and dose of oral prednisolne (PSL), the MG-QOL15-J score of MM status patients taking ≤ 5 mg PSL per day is identically low (i.e., just as good QOL) as that seen in CSR and is a target of treatment. In order to veer away from high-dose oral corticosteroids and to achieve early MM or better status with PSL ≤ 5 mg/day, we advocate the early aggressive treatment strategy that can achieve early improvement by performing an aggressive therapy using combined treatment with plasmapheresis and high-dose intravenous methylprednisolone and then maintain an improved clinical status using low-dose oral corticosteroids and calcineurin inhibitors (cyclosporine microemulsion and tacrolimus). The early stages of MG are susceptible to treatment with calcineurin inhibitors. When using cyclosporine microemulsion for MG, blood concentrations 2 h after administration (C2) correlate with clinical improvement and immediately before administration (C0) with side effects (increased serum creatinine and/or hypertension). Monitoring of C2 and C0 levels is useful to estimate efficacy and safety of the drug. PMID:23196511

  3. Clinical characteristics and follow-up management of 135 children with myasthenia gravis%135例儿童重症肌无力患者的临床特点及其治疗后随访

    Institute of Scientific and Technical Information of China (English)

    杨志晓; 林庆; 吴希如; 熊晖; 张月华; 包新华; 姜玉武; 吴晔; 王爽; 常杏芝; 秦炯

    2011-01-01

    Objective : To investigate and analyze the clinical manifestations , classification , therapeutic approaches and follow-up of myasthenia gravis ( MG) in children in order to improve its management and prognosis. Methods : Clinical information of 135 children with MG, who were diagnosed between January 1993 to January 2008 , were collected and retrospectively analyzed. And prospective following-up of these patients were conducted. Results : Among the 135 cases, 59 were males and 76 females, giving the ratio of M/F around 1:1.3. Totally, 115 cases (85. 2% ) were type Ⅰ MG ( ocular type) , of which only 4.2%developed to generalized type during the subsequent clinical course. Type Ⅱ MG ( generalized type ) was found in 18 cases ( 13.4% ) and tpye Ⅲ MG in two cases(1.5% ). The onset age ranged from 5 month to 15 years, with 50. 3% before three years and 80. 7% before seven years. Upper respiratory tract infection was presented in 26. 7% (36/135) of the sick children before the onset of MG. Among the 106 children being followed up, recurrence of the disease identified in 50.9% and the number of relapse ranged from 1 to 9. Altogether, 40. 19% (43/106) of the cases were positive for anti-acetylcholine receptor antibodies (AchR-Ab) on the initial examination, and the AchR-Ab postitive rate showed no difference among different clinical subtypes and states. However, during the follow-up, 53% (9/17) of the recurrent cases, who were negative at the first onset, turned to be positive, and 37. 97% (30/79) were positive for repetitive nerve stimulation in electromyogram test. There were 71 % (45/63) of all the cases showed reduced levels of CD4 + and/or CD3 + and/or CD8 + . Thymus proliferation was found in 5. 93% ( 8/135 ) through CT scan and thymoma in 1. 48% ( 2/135 ) . Steroids and anti-cholinesterase administration were effective in most cases with good prognosis. Conclusion: Childhood MG, mainly type Ⅰ , is relatively common in China, with

  4. 重症肌无力患者血清中Ryanodine受体抗体对其症状学的评估作用%Serum ryanodine receptor antibody on the assessment of clinical symptoms in patients with myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    张祥; 乔健; 吕传真

    2005-01-01

    BACKGROUND: Myasthenia gravis (MG) patients with thymoma were often neglected in clinical work and delayed the therapy.OBJECTIVE: To investigate the significance of the Ryanodine receptor (RyR) antibody on the assessment of MG.DESIGN: A case analysis.SETTING: Institute of neurology in a hospital of a university.PARTICIPANTS: This experiment was carried out in the Institute of Neurology, Fudan University from June 1999 to March 2002. There were 66 MG patients with thymoma(MGT group), 98 MG patients with non-thymoma (NTMG group), 50 patients with non-myasthenia gravis(NMG) and 123 normal persons (NC group).METHODS: Sarcoplasmic reticulum(SR) abounded in RyR was extracted with differential centrifugation, in order to establish a detecting system of ELISA-RyR-RyR antibody (RyR-ab).MAIN OUTCOME MEASURES: The levels of RyR-ab in serum of researched subjects.RESULTS: Positive rate of RyR-ab in MGT group was higher than that in NTMG and NMG groups(P < 0.01), moreover, the sensitivity and the specificity were 81.8% and 94.5% respectively. The positive rates of MGT groups with different thymus histology were no significant difference(P> 0.05). Ages, clinical scores and levels of acetylcholine receptor antibody (AchR-ab) in patients with positive RyR-ab were higher than those in patients with negative RyR-ab( P < 0.01 ) in MG group. The levels of RyR-ab was positive correlated with the severities of clinical symptoms in MG patients, especially the patients in MGT group( r = 0. 626, P < 0.01) . And among the different histological types of MGT, thymoma of epithelioid cells has the highest correlation coefficient ( r = 0. 592, P < 0. 01).CONCLUSION: The detection of RyR-ab has better sensitivity and specificity for the diagnosis of MGT and the levels of RyR-ab is positive correlatied with the severities of MG patients.%背景:临床工作中对伴胸腺瘤重症肌无力患者仍存在漏诊,从而贻误治疗.目的:探讨Ryanodine受体(ryanodine receptor,RyR)抗体在重症肌无力(myasthenia

  5. 重症肌无力患者胸腺组织中microRNA-27a-3p的表达水平及其临床意义%Altered expression of microRNA-27a-3p in the thymus tissue of patients with myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    李千; 王丽华; 王健健; 张荟雪; 单雪; 孔晓彤

    2016-01-01

    目的 探讨microRNA-27a-3p在重症肌无力(myasthenia gravis,MG)患者胸腺组织中的表达水平并分析其临床意义.方法 收集2004年12月至2015年2月于哈尔滨医科大学附属第二医院胸外科经手术治疗的19例MG患者的胸腺组织标本作为病例组,17例经手术治疗的非MG患者胸腺组织及心外科先天性心脏病患者手术时切取的胸腺组织标本作为对照组,通过实时荧光定量PCR方法检测,采用Wilcoxon秩和检验分析两组标本中microRNA-27 a-3p的表达情况.采用Spearman秩相关分析方法分析MG组胸腺中microRNA-27a-3p的表达水平与定量重症肌无力评分(Quantitative Myasthenia Gravis Score,QMGS)之间的相关性.结果 (1)MG患者胸腺中microRNA-27a-3p的表达水平[0.195(0.049,0.714)]显著高于对照组[0.045 (0.004,0.088);Z=-2.646,P=0.008];(2)19例MG患者中,眼肌型MG(ocular myasthenia gravis,OMG)7例,全身型MG(generalized myasthenia gravis,GMG) 12例,与OMG[0.035(0.008,0.103)]相比,GMG患者胸腺中microRNA-27a-3p的表达[0.493(0.157,1.123)]显著上调(Z=-2.620,P=0.009);(3)microRNA-27a-3p的表达水平与QMGS之间具有正相关性(r=0.576,P=0.010).结论 microRNA-27 a-3p在MG患者胸腺中异常高表达,可能与肌无力的严重程度呈正相关,并与其临床类型有关,但与发病年龄、性别、胸腺病理无明显关联.%Objective To investigate the expression level of thymus microRNA-27a-3p in patients with myasthenia gravis (MG) and to explore the pathogenesis of MG.Methods Thymus tissue samples from 36 cases were collected from December 2014 to February 2015 in the Second Affiliated Hospital of Harbin Medical University.Nineteen thymus tissue samples of MG group were collected from department of chest surgery,17 thymus tissue samples of control group were collected from department of chest surgery or congenital heart disease patients from department of cardiac surgery.The expression of microRNA-27a-3p in the thymus from 36 patients

  6. Toll样受体在重症肌无力患者胸腺组织中的表达及其临床意义%Expression of Toll-like receptors in thymus of myasthenia gravis patients

    Institute of Scientific and Technical Information of China (English)

    高珂; 王允; 王英成; 马小红; 李涛; 伍贮; 刘伦旭; 车国卫; 寇瑛莉; 黄颐

    2008-01-01

    Objective To investigate the expression ofToll-1ike receptors(TLRs)in thymus of myasthenia gravis(MG)patients and the relationship with clinical features.Methods Thymie specimens of 36 patients received extended thymectomy for MG were divided into three groups by pathological type:13 thymoma tissues(thymoma group) and 13 thymie tissues adjacent to thymomas(parathymoma group)from 13 eases of MG patients with thymomas,and 23 thymie tissues from MG patients without thymomas(MG nonthymoma group).Twenty-one normal thymic specimens from cardiac surgery were used as controls.The levels of TLR2-4 mRNA were examined by RT-PCR,then the levels of TLR4 mRNA were assayed by real time RT-PCR and their relationship with chnieal features were analyzed.Results The levels Of TLR4 mRNA among the different groups had significant differences,while there was no difference in TLR2 and nm levels.The real time RT-PCR showed that the level of TLR4 mRNA in nonthymoma group waft significantly higher than that in control group(0.8544t±0.1200 vs0.6851±0.1524.P=0.018).And SO is parathymoma group compared With thc thymoma group(0.8214±0.1019 Vs 0.7101±0.0916,P=0.005).No significant difference of TLR4A level was found between the parathymoma and nonthymoma groups.Nevertheless,the expression of TLR4 in both groups WaS increased compared with control group.The levels of TLR4 mRNA had positive correlation with Osserman type(R=0.609;P=0.004).Conclusion TLR4 may play a key role in the pathogenesis ofMG.It Was the thymie tissues sdjacent to thymomas but not thymomas themselves participated in the onset of MG.%目的 研究Toll样受体(Toll-like receptor,TLRs)在重症肌无力(myasthenia gravis,MG)患者胸腺组织中的表达,分析其与MG发生、发展的关系.方法 收集我科2007年7月至2008年2月手术治疗的36例MG患者胸腺标本,分为胸腺瘤组、瘤旁胸腺组、非瘤MG胸腺组,以无MG的正常胸腺21例为对照(正常胸腺组),采用逆转录-PCR技术,检测TLR2

  7. 机器人胸腺扩大切除术在老年重症肌无力患者中的应用%Robotic-assisted Extended Thymectomy for Myasthenia Gravis in Elderly Patients

    Institute of Scientific and Technical Information of China (English)

    褚剑; 韩冰; 尹东涛; 陈秀; 崔琦; 马孟琦; 刘娜; 隋波

    2013-01-01

    Objective To evaluate the efficacy of robotic-assisted extended thymectomy for myasthenia gravis in elderly patients. Methods From May 2009 to December 2011 , 9 elderly patients with myasthenia gravis, including 4 cases of thymoma, received extended thymectomy by using Da Vinci S surgical system with a double-lumen endobronchial intubation under general anesthesia. All the patients were set at a supine position with one side of the chest rising up by 30°. An 1. 5-cm incision was made on the anterior axillary line, at the fifth intercostal space so that to insert a trocar as a observation hole. And then on the anterior axillary line, at the third intercostal space, and on the midclavicular line, at the sixth intercostal space, two incisions were made ( both were 10 cm away from the observation hole) to introduce the left and fight mechanical arm. Finally, a fourth trocar was placed through an incision on the midaxillary line at the seventh intercostal space, as an assistant operation hole. Artificial pneumothorax was established with a pressure set at 6 - 12 mm Hg. The thymus and surrounding fat tissues were all removed via the assistant operation hole. Results The procedure was completed successfully without conversion to open surgery. The mean anesthesia time was 180 min (ranged from 60 to 210 min) , and the mean time for robotic-assisted procedure was 60 min (ranged from 30 to 110 min) . The mean intraoperative blood loss was 100 ml (ranged from 30 to 200 ml) ,and no patient received blood transfusion. The mean ICU stay of the cases ranged from 1 to 3 days ( mean, 1 day). Nine patients were followed up for 5 to 32 months with a mean of 12 months. According to DeFilippi standards, two patients got grade one, two grade two, three grade three, and the effective rate was 100%. Conclusion Robotic-assited extended thymectomy is effective and safe for selected elderly patients.%目的 评价达芬奇S(da Vinci S)机器人胸腺扩大切除术在老年重症肌

  8. Ophthalmological affectation: A way to mask Miastenia Gravis. A case purpose.

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    Néstor R. Sánchez Dacal

    2012-06-01

    Full Text Available Myasthenia Gravis MG is an autoimmune and chronic neuromuscular disease characterized by variable of weakness in the skeletal muscles that control the eye movements and it is confused with an ophthalmological disorder. With this presentation we pretend to systematize the Theoretical references about MG which allow making a correct diagnosis of the disease from the experience of a clinical case. The theory about MG regarding the presentation of the disease is discussed, emphasising on the significance of its differential diagnosis with an ophthalmopathy, which will contribute to apply a proper treatment and a satisfactory evolution of the patient, arriving to the conclusion that affectation of the III cranial pair is a way of frequent presentation of MG, being valuable the differential diagnosis of the ophthalmopaties in these entities.

  9. 肾上腺糖皮质激素不同疗法治疗重症肌无力的对照研究%Control study on different usage of glucocorticoid in treatment of myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    唐春雷; 郝俊杰; 张磊

    2011-01-01

    Objective It is to observe the clinical effect and adverse reactions of the different usage of glucocorticoid ( GC )in the treatment of adults systemic type of myasthenia gravis ( MG ). Methods Sixty-five patients with MG were randomly divided into 2 groups, which is small-dose prednisone therapy group ( 33 cases ) and high-dose methylprednisolone ( MPL ) therapy group ( 32 cases ). Absolute scores were compared in the same group before treatment and after treatment ( 1 , 3 months ),ahsolute scores and relative scores were compared between two groups before treatment and after treatment, and incidence of adverse reactions were compared between two groups after treatment ( 1,3 months ). Results Both of small-dose prednisone therapy and high-dose MPL therapy could significantly reduced the symptoms of patients with MG, clinical absolute scores of these were reduced correspondingly ( P < 0. 01 ), and efficacy was sustained ( P < 0. 01 ). The clinical efficacy of high-dose MPL therapy group was more significant than small-dose therapy group at the end of the first month, and the reducing of its absolute scores were more significant ( P < 0. 05 ). The adverse reactions between two groups were similar. The incidence of glucose increasing was lower in high-dose MPL therapy group than in small-dose prednisone therapy group at the end of the first month ( P < 0. 05 ). Conclusion The high-dose MPL can improve the symptom of MG more quickly than small-dose prednisone.%目的 观察肾上腺糖皮质激素(GC)不同治疗方案治疗成人全身型重症肌无力(MG)的临床疗效及不良反应.方法 将65例MG患者随机分为2组,递增疗法组33例给予小剂量泼尼松递增治疗,冲击疗法组32例给予大剂量甲基泼尼松龙(MPL)治疗;观察各组治疗前及治疗后1,3个月绝对评分与相对评分的变化,比较2组治疗后评分及不良反应发生情况.结果 大剂量MPL冲击疗法及泼尼松小剂量递增疗法均能显著改善MG

  10. Myeshenia Gravis Presented with Respiratory Failure

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    Vandana Dhangar, Snehal B Patel

    2014-01-01

    Full Text Available A case of 41 year old female known case of depression since 10 years, developed dry cough, low grade fever, breathlessness and drowsiness since 4 days was admitted in ICU and initially diagnosed as type 2 respiratory failure due to pneumonia but on further investigating for altered sensorium patient was found to be NCV positive and was diagnosed as seronegative myasthenia gravis.

  11. [Diagnostics of autoimmune diseases].

    Science.gov (United States)

    Beleznay, Zsuzsanna; Regenass, Stephan

    2008-09-01

    Autoantibodies play a key role in diagnostic laboratories as markers of autoimmune diseases. In addition to their role as markers they mediate diverse effects in vivo. Autoantibodies with protective effect have been described. Natural protective IgM autoantibodies against tumour-antigens of malignant cells or their precursors may contribute to increased survival rates of carcinoma patients. In a mouse model of systemic lupus erythematosus it has been shown that anti-dsDNA IgM autoantibodies protect from glomerular damage. In contrast, a direct pathogenic role of autoantibodies has been well established e.g. in myasthenia gravis or in Goodpasture syndrome. Similarly autoantibodies against SSA Ro52 are detrimental in neonatal lupus erythematosus with congenital heart block. Moreover, putatively protective autoantibodies may become pathogenic during the course of the disease such as the onconeuronal autoantibodies whose pathogenicity depends on their compartmentalisation. In patients with paraneoplastic syndromes tumour cells express proteins that are also naturally present in the brain. Anti-tumour autoantibodies which temporarily suppress tumour growth can provoke an autoimmune attack on neurons once having crossed the blood-brain barrier and cause specific neurological symptoms. Only a restricted number of autoantibodies are useful follow-up markers for the effectiveness of treatment in autoimmune diseases. Certain autoantibodies hold prognostic value and appear years or even decades before the diagnosis of disease such as the antimitochondrial antibodies in primary biliary cirrhosis or anti-citrullinated protein (CCP)-antibodies in rheumatoid arthritis. It is crucial to know whether the autoantibodies in question recognise linear or conformational epitopes in order to choose the appropriate detection methods. Indirect immunofluorescence microscopy remains a very useful tool for confirmation of results of commercially available immunoassays and for detection of

  12. Regulatory T-Cells in Chronic Lymphocytic Leukemia and Autoimmune Diseases

    Science.gov (United States)

    D’Arena, Giovanni; Rossi, Giovanni; Vannata, Barbara; Deaglio, Silvia; Mansueto, Giovanna; D’Auria, Fiorella; Statuto, Teodora; Simeon, Vittorio; De Martino, Laura; Marandino, Aurelio; Del Poeta8, Giovanni; De Feo, Vincenzo; Musto, Pellegrino

    2012-01-01

    Regulatory T-cells (Tregs) constitute a small subset of cells that are actively involved in maintaining self-tolerance, in immune homeostasis and in antitumor immunity. They are thought to play a significant role in the progression of cancer and are generally increased in patient with chronic lymphocytic leukemia (CLL). Their number correlates with more aggressive disease status and is predictive of the time to treatment, as well. Moreover, it is now clear that dysregulation in Tregs cell frequency and/or function may result in a plethora of autoimmune diseases, including multiple sclerosis, type 1 diabetes mellitus, myasthenia gravis, systemic lupus erythematosus, autoimmune lymphoproliferative disorders, rheumatoid arthritis, and psoriasis. Efforts are made aiming to develop approaches to deplete Tregs or inhibit their function in cancer and autoimmune disorders, as well. PMID:22973497

  13. Immune Globulin Intravenous: Myasthenia Gravis (Acute Exacerbation).

    Science.gov (United States)

    Generali, Joyce A; Cada, Dennis J

    2015-10-01

    This Hospital Pharmacy feature is extracted from Off-Label Drug Facts, a publication available from Wolters Kluwer Health. Off-Label Drug Facts is a practitioner-oriented resource for information about specific drug uses that are unapproved by the US Food and Drug Administration. This new guide to the literature enables the health care professional or clinician to quickly identify published studies on off-label uses and determine if a specific use is rational in a patient care scenario. References direct the reader to the full literature for more comprehensive information before patient care decisions are made. Direct questions or comments regarding Off-Label Drug Uses to jgeneral@ku.edu. PMID:26912917

  14. Correlation of the levels of interleukin-17 and its receptor with myasthenia gravis%白细胞介素-17及其受体水平与重症肌无力的关系

    Institute of Scientific and Technical Information of China (English)

    卢芬; 张杰文; 李旭; 李玮; 秦灵芝; 马明明; 孙晓静; 张钱林; 姚勇; 梁新亮

    2016-01-01

    Objective To investigate the correlation of plasma interleukin ( IL)-17 level and IL-17 receptor (IL-17R) expression in the thymus of patients with myasthenia gravis (MG).Methods The blood samples of 63 patients (38 with glucocorticoid treatment, 25 with thymus removal) who admitted to Henan Provincial People′s Hospital between 2010 and 2014 were collected at three different stages: pre-treatment, 1 week post-treatment and 1 month post-treatment.The blood samples of 42 healthy controls were also collected.Enzyme linked immunosorbent assay was used to evaluate the levels of IL-17 in plasma.Twenty-five thymus tissues from MG patients and another 12 thymus tissues from patients with congenital heart disease who had surgery therapy were also collected.Reverse transcription polymerase chain reaction was used to evaluate the mRNA levels of IL-17R.The possible correlation between the expression of IL-17 and IL-17R with MG was analyzed.Results Before treatment, the levels of IL-17 in the plasma were much higher in all the MG patients ( both ocular and generalized) when compared to the healthy controls ( controls (3.2 ±0.7) pg/ml, MG patients (8.5 ±1.7) pg/ml, t =2.450, P 0.05, compared to the healthy controls).In the surgery therapy cases, the IL-17 levels were also reduced after the thymus removal ( pre-surgery (8.8 ±1.4) pg/ml, 1 week after surgery (5.3 ±0.7) pg/ml, t=1.950, P<0.05;1 month after surgery (3.0 ±0.4) pg/ml, t=2.683, P<0.01).In the thymus tissues of the MG patients, the mRNA levels of IL-17R were much higher than that of the controls ( relative level 2.31 folds, t =2.682, P <0.01).Meanwhile, a positive correlation was found between the plasma IL-17 levels and the relative IL-17R levels in thymus tissues ( r =0.945 4, P <0.01 ).Furthermore, IL-17 was positively correlated with quantitative myasthenia gravis scores (QMGS) either pre-treatment (r =0.798 1, P <0.01) or post-treatment (r=0.906 5, P<0.01).And IL-17R was positively correlated with QMGS pre

  15. Determinação imunohistoquímica da presença de células mióides em pacientes submetidos à timectomia Determination of the presence of myoid cells in the thymus by immunohistochemistry after thymectomy for myasthenia gravis

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    Olanrewaju Muisi Adedamola Ladipo

    2004-08-01

    Full Text Available OBJETIVO: Detectar e quantificar células mióides em timos de pacientes com miastenia grave, estabelecendo possível correlação entre a quantidade de células mióides com variáveis demográficas e clínico-patológicas. MÉTODO: Foram analisados por meio de método imuno-histoquímico com anticorpo antidesmina (clone D33; marca Dako, timos de 22 pacientes (16 mulheres e seis homens, entre 12 e 61 anos submetidos à timectomia, entre 1981 e 1995, no Serviço de Cirurgia Torácica do Hospital Heliópolis como parte do tratamento de miastenia grave. RESULTADOS: As maiores médias de células mióides foram encontrados em timos dos pacientes da raça negra (29,4:17,8, do sexo feminino (23,2:13,0 e com faixa etária entre 60 e 80 anos (média de 33,0. Pela classificação clínica da Fundação de Miastenia Grave da América (MGFA, a maior média de células mióides (26,7 encontra-se na classe IIIa, sendo do tipo histológico de hiperplasia verdadeira (média 42,0. As células mióides foram identificadas em 11 timos com hiperplasia linfóide, três hiperplasias verdadeiras e em quatro timos normais. Os timomas malignos (três e um timo normal não apresentaram células mióides. CONCLUSÕES: As células mióides podem ser identificadas e quantificadas pelo método imuno-histoquímico com anticorpo antidesmina, porém não existe correlação entre a quantidade de células mióides e as variáveis demográficas, clínico-patológicas. Elas não foram identificadas no timoma fusocelular.BACKGROUND: To detect and quantify myoid cells in thymus of patients with myasthenia gravis, establishing possible correlation between the amount of myoid cells and demographics, clinics, and pathological variables. METHODS: thymic specimens of 22 patients (16 women and six men, age ranging from 12 to 61 years, were analyzed through immunohistochemistry with monoclonal antibody anti- desmin (Dako - D33. They were submitted to tymectomy, between 1981 and 1995, in

  16. Population-Level Evidence for an Autoimmune Etiology of Epilepsy

    Science.gov (United States)

    Ong, Mei-Sing; Kohane, Isaac; Cai, Tianxi; Gorman, Mark P.; Mandl, Kenneth

    2015-01-01

    Importance Epilepsy is a debilitating condition, often with neither a known etiology nor an effective treatment. Autoimmune mechanisms have been increasingly identified. Objective To conduct a population-level study investigating the relationship between epilepsy and several common autoimmune diseases. Design, Setting, and Participant A retrospective population-based study using claims from a nation-wide employer-provided health insurance plan in the United States. Subjects were beneficiaries enrolled between 1999 and 2006 (n= 2,518,034). Main Outcomes and Measures We examined the relationship between epilepsy and 12 autoimmune diseases: type 1 diabetes, psoriasis, rheumatoid arthritis, Graves’ disease, Hashimoto’s thyroiditis, Crohn’s disease, ulcerative colitis, systemic lupus erythematosus, antiphospholipid syndrome, Sjögren’s syndrome, myasthenia gravis and celiac disease. Results The risk of epilepsy is significantly heightened among patients with autoimmune diseases (OR 3.8, 95% CI 3.6–4.0, P<0.001), and is especially pronounced in children (OR 5.2, 95% CI 4.1–6.5; P<0.001). Elevated risk is consistently observed across all 12 autoimmune diseases. Conclusions and Relevance Epilepsy and AD frequently co-occur and patients with either condition should undergo surveillance for the other. The potential role of autoimmunity must be given due consideration in epilepsy, so we are not overlooking a treatable etiology. PMID:24687183

  17. Myasthenia and related disorders of the neuromuscular junction.

    Science.gov (United States)

    Spillane, Jennifer; Beeson, David J; Kullmann, Dimitri M

    2010-08-01

    Our understanding of transmission at the neuromuscular junction has increased greatly in recent years. We now recognise a wide variety of autoimmune and genetic diseases that affect this specialised synapse, causing muscle weakness and fatigue. These disorders greatly affect quality of life and rarely can be fatal. Myasthenia gravis is the most common disorder and is most commonly caused by autoantibodies targeting postsynaptic acetylcholine receptors. Antibodies to muscle-specific kinase (MuSK) are detected in a variable proportion of the remainder. Treatment is symptomatic and immunomodulatory. Lambert-Eaton myasthenic syndrome is caused by antibodies to presynaptic calcium channels, and approximately 50% of cases are paraneoplastic, most often related to small cell carcinoma of the lung. Botulism is an acquired disorder caused by neurotoxins produced by Clostridium botulinum, impairing acetylcholine release into the synaptic cleft. In addition, several rare congenital myasthenic syndromes have been identified, caused by inherited defects in presynaptic, synaptic basal lamina and postsynaptic proteins necessary for neuromuscular transmission. This review focuses on recent advances in the diagnosis and treatment of these disorders. PMID:20547629

  18. B cells in the pathophysiology of autoimmune neurological disorders: a credible therapeutic target.

    Science.gov (United States)

    Dalakas, Marinos C

    2006-10-01

    There is evidence that B cells are involved in the pathophysiology of many neurological diseases, either in a causative or contributory role, via production of autoantibodies, cytokine secretion, or by acting as antigen-presenting cells leading to T cell activation. Clonal expansion of B cells either in situ or intrathecally and circulating autoantibodies are critical elements in multiple sclerosis (MS), Devic's disease, paraneoplastic central nervous system disorders, stiff-person syndrome, myasthenia gravis, autoimmune demyelinating neuropathies and dermatomyositis. The pathogenic role of B cells and autoantibodies in central and peripheral nervous system disorders, as reviewed here, provides a rationale for investigating whether depletion of B cells with new agents can improve clinical symptomatology and, potentially, restore immune function. Preliminary results from several clinical studies and case reports suggest that B cell depletion may become a viable alternative approach to the treatment of autoimmune neurological disorders.

  19. 年龄对重症肌无力患者顺式阿曲库铵肌松效应的影响%Influence of age on neuromuscular block effect of cisatracurium in myasthenia gravis patients

    Institute of Scientific and Technical Information of China (English)

    贾瑞芳; 周淑珍; 张宏业; 左明章

    2015-01-01

    目的 观察重症肌无力(MG)患者术中应用顺式阿曲库铵的肌松效应,比较老年MG患者与中青年MG患者顺式阿曲库铵肌松效应的差别. 方法 择期胸腔镜下行胸腺切除术的MG患者,根据年龄分为老年组(≥65岁)和中青年组(20~50岁).其中老年组Ⅱb型MG有15例,从中青年组中根据性别、病情、病程、术前治疗情况、麻醉用药、手术时间配对选择Ⅱb型MG患者15例.麻醉诱导期用TOF Watch SX肌松监测仪行拇内收肌肌松监测,静注顺式阿曲库铵,首剂量从0.05mg/kg[1倍95%有效剂量(ED95)]开始,根据TOF值追加顺式阿曲库铵0.015 mg/kg,直到T1/T0<95%时实施双腔气管支气管导管插管.术中当T4/T1达到25%时追加0.015 mg/kg顺式阿曲库铵.观察顺式阿曲库铵的插管剂量和作用时间、临床作用持续时间、术毕TOFr(T4/T1)恢复到25%、70%和90%的时间. 结果 老年MG组和中青年MG组顺式阿曲库铵的插管剂量和首剂量的作用持续时间差异无统计学意义(均P>0.05);术中老年MG组顺式阿曲库铵的临床作用时间(21.6±6.7)min,较中青年MG组顺式阿曲库铵的临床作用时间(33.7±13.4)min短(t=-2.139,P=0.045);老年MG组术中追加顺式阿曲库铵(3.9±1.3)次,多于中青年MG组术中追加次数(2.3±2.2)次(t=2.601,P=0.025);术毕中老年组TOFr恢复到25%的时间(22.1±6.9)min短于中青年MG组TOFr恢复到25%的时间(34.0±18.3)min(t=-2.139,P=0.037);两组患者术毕TOFr恢复到70%和90%的时间差异无统计学意义(均P>0.05). 结论 老年MG患者的顺式阿曲库铵阻滞时间较中青年MG患者有不同程度的缩短;有必要进行更多的相关研究来进一步明确年龄对MG患者顺式阿曲库铵以及其他肌松药肌松效应的影响.%Objective To investigate the neuromuscular block effect of intravenous injection of cisatracurium in myasthenia gravis patients with different ages.Methods Fifteen geriatric patients

  20. B cells as therapeutic targets in autoimmune neurological disorders.

    Science.gov (United States)

    Dalakas, Marinos C

    2008-10-01

    B cells have a fundamental role in the pathogenesis of various autoimmune neurological disorders, not only as precursors of antibody-producing cells, but also as important regulators of the T-cell activation process through their participation in antigen presentation, cytokine production, and formation of ectopic germinal centers in the intermeningeal spaces. Two B-cell trophic factors-BAFF (B-cell-activating factor) and APRIL (a proliferation-inducing ligand)-and their receptors are strongly upregulated in many immunological disorders of the CNS and PNS, and these molecules contribute to clonal expansion of B cells in situ. The availability of monoclonal antibodies or fusion proteins against B-cell surface molecules and trophic factors provides a rational approach to the treatment of autoimmune neurological diseases. This article reviews the role of B cells in autoimmune neurological disorders and summarizes the experience to date with rituximab, a B-cell-depleting monoclonal antibody against CD20, for the treatment of relapsing-remitting multiple sclerosis, autoimmune neuropathies, neuromyelitis optica, paraneoplastic neurological disorders, myasthenia gravis, and inflammatory myopathies. It is expected that ongoing controlled trials will establish the efficacy and long-term safety profile of anti-B-cell agents in several autoimmune neurological disorders, as well as exploring the possibility of a safe and synergistic effect with other immunosuppressants or immunomodulators.

  1. Animal models of antimuscle specific kinase myasthenia

    Science.gov (United States)

    Richman, David P.; Nishi, Kayoko; Ferns, Michael J.; Schnier, Joachim; Pytel, Peter; Maselli, Ricardo A.; Agius, Mark A.

    2014-01-01

    Antimuscle specific kinase (anti-MuSK) myasthenia (AMM) differs from antiacetylcholine receptor myasthenia gravis in exhibiting more focal muscle involvement (neck, shoulder, facial, and bulbar muscles) with wasting of the involved, primarily axial, muscles. AMM is not associated with thymic hyperplasia and responds poorly to anticholinesterase treatment. Animal models of AMM have been induced in rabbits, mice, and rats by immunization with purified xenogeneic MuSK ectodomain, and by passive transfer of large quantities of purified serum IgG from AMM patients into mice. The models have confirmed the pathogenic role of the MuSK antibodies in AMM and have demonstrated the involvement of both the presynaptic and postsynaptic components of the neuromuscular junction. The observations in this human disease and its animal models demonstrate the role of MuSK not only in the formation of this synapse but also in its maintenance. PMID:23252909

  2. P15: The expression of Tc17 cells in thymoma accompany with autoimmune diseases or autoimmune disorders

    Science.gov (United States)

    Zhang, Peng

    2015-01-01

    Background Thymoma is thymic epithelial cell tumor. Studies have shown that thymoma associated with autoimmune disorders and possible mechanisms of autoimmune diseases is the central immune tolerance and peripheral tolerance obstacles have resulted in the breaking of the autoimmune response activation and immune tolerance. Tc17 cells and Th17 cells have been shown play an important role in tumor and autoimmune diseases’ development process. This study test the distribution of Tc17cells in thymoma and the expression of RORγt in thymus of thymoma patients with myasthenia gravis (MG) or other autoimmune diseases, the frequency of Th17/Tc17 in PBMCs, to explore the expression of Th17/Tc17 cells in thymoma accompany with autoimmune diseases or autoimmune disorders. Methods In this study, grouped as follows: (I) thymoma non gravis group (Tm groups); (II) thymoma with MG group thymoma with MG (MG group); (III) thymoma with MG associated with other autoimmune diseases group or anti- nuclear antibodies abnormal elevation of the group (AD group), to analyze the basic differences between the groups. In this study, we examined the RT-PCR to detect RORγt in the thymoma tissue, immunohistochemical double staining method to detect Tc17 cells expression and localization in the thymoma tissue distribution expression Th17/Tc17 in PBMCs by flow cytometry [Interleukin (IL)-17-producing CD8+ cells as Thl7 cells and IL-17-producing CD4+ cells as Tcl7 cells], analysis of differential expression of three in each group thymoma; and explore of Th17/Tc17 expression. Results (I) Tm groups and AD group serum CD8+ cells was statistically significant (PTc17 cells in MG/AD group was significantly higher than that in Tm, was statistically significant (PTc17 cells have risen trend in Tm groups and MG/AD group. Conclusions (I) CD8+ cells, CD4+/CD8+ T ratio, immunoglobulin, CRP and complement C3 levels can be used as indicators of evaluation of the role of the immune status of patients with

  3. Efficacy of Video-assisted Thoracoscopic Thymectomy for Myasthenia Gravis and the Factors Influencing the Outcome%胸腔镜胸腺扩大切除术治疗重症肌无力的疗效观察及影响因素分析

    Institute of Scientific and Technical Information of China (English)

    崔健; 李剑锋; 周足力; 黄宇清; 陈应泰; 孟宪璞; 刘军; 王俊

    2012-01-01

    目的 对胸腔镜胸腺扩大切除术治疗重症肌无力( myasthenia gravis,MG)的疗效进行总结,分析影响MG手术疗效的因素. 方法 回顾性研究我院2000年6月~2009年10月47例MG接受胸腔镜手术的临床资料,采用单因素分析和logistic回归模型对患者性别、年龄、病程、MGFA分型、胸腺病理类型等可能影响因素进行分析. 结果 45例完成随访,随访16~111个月,平均51个月.根据MGFA提出的治疗后状况分类:完全稳定缓解占64.4% (29/45),药物缓解占17.8%( 8/45),微小症状表现占8.9%(4/45),恶化占2.2%( 1/45),复发占4.4% (2/45),死亡占2.2% (1/45).年龄(β=0.059,P =0.027,OR =1.060,95%CI为1.007 ~1.117)和胸腺病理类型(β=1.558,P=0.025,OR=4.750,95% CI为1.214~18.584)是影响手术疗效的因素. 结论 MG行电视胸腔镜下胸腺扩大切除术疗效满意,年龄和胸腺病理类型是手术疗效的影响因素.%Objective To assess the efficacy of and video-assisted thoracoscopic thymectomy in the treatment of myasthenia gravis (MG) and the factors influencing the results. Methods A total of 47 patients with MG, who underwent video-assisted thoracoscopic thymectomy in our hospital from June 2000 to, October 2009, were enrolled in this retrospective study. The sex, age, course of disease, MGFA classification, and pathological type of thymus of the patients were analyzed with univariate and logistic regression analyses. Results Follow-up for a mean of 51 months (ranged from 16 to 111 months) was achieved in 45 of the 47 patients. Therapeutic regimen was determined based on the MGFA for the patients. After the treatment, 29 of the patients achieved complete stable remission (64.4% ) , 8 had pharmacologic remission (17.8% ) , 4 still had minimal manifestations (8.9% ) , 1 was deteriorated (2.2% ) , 2 showed recurrent MG (4.4% ) , and 1 patient died (2. 2% ). Age and pathological type of thymus were main factors influencing the outcomes of the

  4. Therapeutic gymnastics in comprehensive treatment of patients with generalized myasthenia

    Science.gov (United States)

    Kapelovich, R. L.

    1980-01-01

    The technique of therapeutic gymnastics was used for patients with mayasthenia gravis to control the consequences of hypodynamia induced by the myasthenic process. It is concluded that during myasthenia, the severity of the disease is due to the affection of the cross striated musculature. The most life threatening are the disorders in respiration and swallowing, that can be intensified by forced stay in bed and immobility. It is also concluded that the use of therapeutic gymnastics in patients which myasthenia promotes efficient presurgical preparation, and in the post surgical period; prevention of pulmonary complications and normalization of respiration. Therapeutic gymnastics with regard to the severity and localization of the myasthenic disorders must be a component part of the presurgical preparation and postsurgical management of patients with generalized myasthenia.

  5. Hypothetical review: thymic aberrations and type-I interferons; attempts to deduce autoimmunizing mechanisms from unexpected clues in monogenic and paraneoplastic syndromes.

    Science.gov (United States)

    Meager, A; Peterson, P; Willcox, N

    2008-10-01

    In sporadic autoimmune disorders, dendritic cells are increasingly being incriminated as agents provocateurs. However, the mechanisms and any 'danger signals' that induce them to autoimmunize remain enigmatic. Here, we focus on unexpected clues from two prototypic/ highly informative autoimmune syndromes, acquired thymoma-associated myasthenia gravis and the monogenic autoimmune polyendocrine syndrome type-1 (APS1), caused by mutations in the AutoImmune Regulator (AIRE). Both involve the thymus, and in both we find early, persistent, highly prevalent and high-titre neutralizing autoantibodies against type-I interferons, regardless of the exact AIRE genotype or the characteristically variable clinical phenotype in APS1. Thus these key innateadaptive immune intermediaries are now implicated in APS1 and paraneoplastic myasthenia as well as in systemic lupus erythematosus and other sporadic autoimmune disorders. The currently accepted notion that autoimmunization proceeds automatically (by 'default') does not explain how, when or where autoimmune responses are initiated against which targets in APS1, or whether exogenous or internal danger signals are involved, or predict whether the primary auto-immunogenic targets are AIRE-dependent. As the parallels between these syndromes must hold novel clues to these puzzles, they demand explanations. To unify these and other findings, we propose that autoimmunization occurs centrally in aberrant thymic environments rendered 'dangerous' by AIRE-deficiency (possibly by excess undegraded nucleic acids/dead cell debris). The ensuing autoreactivity focuses early on the locally abundant type I interferons and then on other peripheral tissue autoantigens that are still expressed despite the absence of AIRE. These ideas raise numerous questions that others may already have the materials to address. PMID:18727623

  6. Risk of non-melanoma skin cancer in myasthenia patients treated with azathioprine

    DEFF Research Database (Denmark)

    Pedersen, E G; Pottegård, A; Hallas, J;

    2014-01-01

    The association between use of azathioprine and risk of non-melanoma skin cancer (NMSC) in patients with myasthenia was evaluated in a nationwide setting. Treatment of autoimmune myasthenia frequently involves long-term exposure to immunosuppressants, including azathioprine. Use of azathioprine...

  7. Practical considerations on the use of rituximab in autoimmune neurological disorders

    Science.gov (United States)

    Kosmidis, Mixalis L.; Dalakas, Marinos C.

    2010-01-01

    Rituximab (Mabthera, Rituxan) is a chimeric human/murine monoclonal antibody against CD-20 surface antigen expressed on B-cells. Rituximab, by causing B-cell depletion, appears to be effective in several autoimmune disorders; it has been approved for rheumatoid arthritis and is a promising new agent in the treatment of several autoimmune neurological disorders. A controlled study in patients with relapsing remitting multiple sclerosis has shown that rituximab significantly reduces the number of new MRI lesions and improves clinical outcome; it also showed some promise in a subset of patients with primary progressive MS. The drug is also effective in a number of patients with Devic’s disease, myasthenia gravis, autoimmune neuropathies, and inflammatory myopathies. The apparent effectiveness of rituximab has moved B-cells into the center stage of clinical and laboratory investigation of autoimmune neurological disorders. We review the evidence-based effectiveness of rituximab in neurological disorders based on controlled trials and anecdotal reports, including our own experience, and address the immunobiology of B-cells in autoimmune central nervous system (CNS) and peripheral nervous system (PNS) disorders. In addition, we provide practical guidelines on how best to use this drug in clinical practice and highlight its potential toxicity. PMID:21179602

  8. IVIg in other autoimmune neurological disorders: current status and future prospects.

    Science.gov (United States)

    Dalakas, Marinos

    2008-07-01

    A number of autoimmune disorders have been identified in which IVIg treatment may be beneficial. Evidence for the use of IVIg in inflammatory myopathies comes from controlled trials in dermatomyositis (DM) and sporadic-inclusion body myositis (s-IBM). In DM, muscle strength was increased and neuromuscular scores and skin rashes improved. Results for s-IBM have not been as encouraging as those observed for DM. Subsequently, IVIg should be recommended as a second-line therapy in DM and used for life-threatening dysphagia in s-IBM. Using an animal model of experimental autoimmune myasthenia gravis (MG), studies also indicate that IVIg can significantly improve clinical symptoms and affect pathogenic idiotypic antibodies. In human MG, studies indicate that IVIg exhibited equal efficacy compared to plasmapheresis. IVIg can therefore be recommended for use in an MG crisis or in lieu of plasmapheresis. The role of IVIg in the chronic management of MG has not been studied. IVIg has also been investigated in autoimmune CNS disorders. In a controlled study in patients with stiff person syndrome IVIg was effective, with improvements in the distribution of stiffness index and heightened sensitivity scores. For neurodegenerative diseases such as Alzheimer's disease, post-polio syndrome, pain, fibrosis, and autoimmune sleep disorders, some early promising results for the use of IVIg are emerging, but remain to be fully investigated. In conclusion, IVIg appears to be an effective treatment for a number of autoimmune disorders, however, optimal dosing and pharmacogenetic studies are necessary.

  9. Practical considerations on the use of rituximab in autoimmune neurological disorders.

    Science.gov (United States)

    Kosmidis, Mixalis L; Dalakas, Marinos C

    2010-03-01

    Rituximab (Mabthera, Rituxan) is a chimeric human/murine monoclonal antibody against CD-20 surface antigen expressed on B-cells. Rituximab, by causing B-cell depletion, appears to be effective in several autoimmune disorders; it has been approved for rheumatoid arthritis and is a promising new agent in the treatment of several autoimmune neurological disorders. A controlled study in patients with relapsing remitting multiple sclerosis has shown that rituximab significantly reduces the number of new MRI lesions and improves clinical outcome; it also showed some promise in a subset of patients with primary progressive MS. The drug is also effective in a number of patients with Devic's disease, myasthenia gravis, autoimmune neuropathies, and inflammatory myopathies. The apparent effectiveness of rituximab has moved B-cells into the center stage of clinical and laboratory investigation of autoimmune neurological disorders. We review the evidence-based effectiveness of rituximab in neurological disorders based on controlled trials and anecdotal reports, including our own experience, and address the immunobiology of B-cells in autoimmune central nervous system (CNS) and peripheral nervous system (PNS) disorders. In addition, we provide practical guidelines on how best to use this drug in clinical practice and highlight its potential toxicity.

  10. Vitiligo vulgaris and autoimmune diseases in Japan: A report from vitiligo clinic in Kyoto University Hospital.

    Science.gov (United States)

    Tanioka, Miki; Yamamoto, Yosuke; Katoh, Mayumi; Takahashi, Kenzo; Miyachi, Yoshiki

    2009-01-01

    We reviewed the causes of "loss of skin color" in 144 patients, who visited Vitiligo Clinic of Kyoto University Hospital between April 2005 and August 2008. The numbers of patients with generalized and segmental Vitiligo vulgaris were 98 (68.1%) and 26 (18.1%), respectively. Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus. One forth of the patients with generalized vitiligo had complications, while no complications were found in the patients with segmental vitiligo. Among the complications, autoimmune diseases dominated 43% (10 of 23 cases). Autoimmune thyroid diseases explained for the most of the complicated autoimmune diseases and were associated with 7.4% of the patients with generalized vitiligo. Minor autoimmune complications include myasthenia gravis, Sjogren syndrome and autoimmune nephritis. Reflecting the condition that our clinic is located in a university hospital, vitiligo patients with end-stage non-melanoma cancers of internal organs accounted for 8.4% of the patients of generalized vitiligo. PMID:20046588

  11. 危重型重症肌无力病人术后危象的预防及护理%Prevention and nursing care of post-operative articulo in severe myasthenia gravis patients

    Institute of Scientific and Technical Information of China (English)

    潘佩珍; 唐白云; 谭妙娜; 刘雅玲; 郑莹

    2006-01-01

    [目的]探讨危重型重症肌无力(myadthenia gravis,MG)围手术期病人护理的方法,以降低危象的发生率.[方法]将53例Ⅲ型、Ⅳ型危重型病人术后按不同方法处理,分为治疗组33例和对照组20例,治疗组病人用甲基强的松龙(MP)20 mg/(kg·d)和环磷酰胺(CTX)0.25 g/(m2·d)而对照组术毕静脉仅用地塞米松0.40mg/(kg·d),两组均连用3 d.两组同时采用"干涸"治疗.[结果]治疗组危象发生率为9.09%,对照组50.00%.[结论]做好充分的术前准备,加强心理护理,做好用药指导,和"干涸"治疗及免疫冲击治疗过程中的护理观察对疾病的恢复有重要作用.

  12. Comparison of medium-term efficacy and quality of life after extended thymectomy for nonthymomatous myasthenia gravis between video-assisted thoracoscopy and median sternotomy%电视胸腔镜与胸骨正中切口行胸腺扩大切除治疗非胸腺瘤重症肌无力中期疗效和生活质量比较

    Institute of Scientific and Technical Information of China (English)

    张凯; 崔键; 赵桂彬

    2011-01-01

    [Objective] To investigate the value of video-assisted thoracoscopic surgery (VATS) in the treatment of nonthymomatous myasthenia gravis (NTMG) by comparing the medium-term efficacy and quality of life after extensive thymectomy of VATS and median sternotomy. [Methods] A retrospective analysis on 52 cases of NTMG, who were preoperatively confirmed to be NTMG from May 2003 to June 2006 were divided into VATS group (26 cases) and conventional thoracotomy group (26 cases); Clinical efficacy was measured by DeFlippi class for changes in myasthenia gravis-associated symptoms and MGFA score, quality of life was studied by modified the European Organization for Research and Treatment of Cancer (EORTC) quality-of-life questionnaire (QLQ) at 3-years of the follow-up. [ Results ] 1 cases occurred muscle weakness crises in open-chest group, but none in VATS group. At 3-years of the follow-up, symptoms improved of patients with VATS better than open-chest group (P 0.05), six item score of EORTC-QLQ (Physical, Role, Cognitive, Emotional, Social, Global ability) of VATS group is superior over conventional group (P >0.05). [Conclusions] VATS thymectomy can be regarded as the treatment of choice for patients undergoing surgery for nonthymomatous myasthenia gravis, it will has a wonderful applied future of clinic.%目的 比较电视胸腔镜手术(VATS)与胸骨正中切口胸腺扩大切除治疗非胸腺瘤重症肌无力(NT-MG)的中期疗效和生活质量,以合理选择手术方式.方法 回顾性分析该科2003年5月~2006年6月行胸腺扩大切除治疗NTMG 52例,根据手术方式的不同分为VATS组(n=26)和开胸组(n=26),术后3年随访时采用术后MG相关症状变化DeFilippi分级和美国重症肌无力基金会MG评分(MGFA评分)分析术后疗效.采用欧洲癌症研究和治疗组织(EORTC)生活质量问卷(QLQ)评估术后生活质量.结果 开胸组发生肌无力危象1例,VATS组无发生.术后3年随访时MG相关症状变化DeFilippi分

  13. CD4+与T淋巴细胞干扰素γ/诱导型一氧化氮合酶/一氧化氮通路在脐带间充质干细胞移植治疗重症肌无力中的作用%Role of CD4+ and interferon-γ-inducible nitric oxide synthane-nitric oxide pathway in treatment of myasthenia gravis by transplantation of umbilical cord mesenchymal stem cells

    Institute of Scientific and Technical Information of China (English)

    刘红艳; 郭静明; 王海燕; 叶松; 冉昌丽

    2012-01-01

    BACKGROUND: Several studies have demonstrated that CD4+ and interferon-γ (INF-γ)-inducible nitric oxide synthane (iNOS)-nitric oxide (NO) pathway is closely related to occurrence of myasthenia gravis.OBJECTIVE: To investigate the mechanism underlying CD4+ and IFN-γ-iNOS-NO pathway in treatment of myasthenia gravis by transplantation of umbilical cord mesenchymal stem cells.METHODS: Rat models of myasthenia gravis were treated by intravenous transplantation of umbilical cord mesenchymal stem cells. At the same time, a control group was set. The expression of CD4+ on lymphocytes was tested by flow cytometry, the level of IFN-γ, iNOS and NO by ELISA, colorimetry and Griess, respectively.RESULTS AND CONCLUSION: At 1 week after transplantation, the expression of CD4+ in the transplantation group was significantly higher (P < 0.01), while the level of IFN-γ, iNOS and NO was significantly lower, than in the model group (P < 0.01). These findings suggest that transplantation of umbilical cord mesenchymal stem cells can up-regulate the expression of CD4+ in the lymphocytes in the transplantation group to adjust IFN-γ-iNOS-NO pathway, down-regulate NO level so as to alleviate immune injuries.%背景:有研究表明,CD4+、干扰素γ/诱导型一氧化氮合酶/一氧化氮通路与重症肌无力的发生密切相关.目的:探讨CD4+ T细胞与干扰素γ/诱导型一氧化氮合酶/一氧化氮通路在脐带间充质干细胞移植治疗重症肌无力中的作用机制.方法:建立重症肌无力大鼠模型,并进行脐带间充质干细胞经静脉移植治疗,同时设立对照组.流式细胞术检测移植后大鼠腋窝淋巴结细胞CD4+的表达,ELISA法检测其干扰素γ的表达,Griess试剂和比色法检测一氧化氮和一氧化氮合酶水平.结果与结论:移植1周后,移植组大鼠腋窝淋巴结的淋巴细胞CD4+的表达显著高于模型组(P < 0.01),干扰素γ、一氧化氮及诱导型一氧化氮合酶

  14. Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248-249

    International Nuclear Information System (INIS)

    Highlights: → Affinity purification of the autoimmune rippling muscle disease immunogenic domain of titin. → Partial sequence analysis confirms that the peptides is in the I band region of titin. → This region of the human titin shows high degree of homology to mouse titin N2-A. -- Abstract: Autoimmune rippling muscle disease (ARMD) is an autoimmune neuromuscular disease associated with myasthenia gravis (MG). Past studies in our laboratory recognized a very high molecular weight skeletal muscle protein antigen identified by ARMD patient antisera as the titin isoform. These past studies used antisera from ARMD and MG patients as probes to screen a human skeletal muscle cDNA library and several pBluescript clones revealed supporting expression of immunoreactive peptides. This study characterizes the products of subcloning the titin immunoreactive domain into pGEX-3X and the subsequent fusion protein. Sequence analysis of the fusion gene indicates the cloned titin domain (GenBank ID: (EU428784)) is in frame and is derived from a sequence of N2-A spanning the exons 248-250 an area that encodes the fibronectin III domain. PCR and EcoR1 restriction mapping studies have demonstrated that the inserted cDNA is of a size that is predicted by bioinformatics analysis of the subclone. Expression of the fusion protein result in the isolation of a polypeptide of 52 kDa consistent with the predicted inferred amino acid sequence. Immunoblot experiments of the fusion protein, using rippling muscle/myasthenia gravis antisera, demonstrate that only the titin domain is immunoreactive.

  15. Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248-249

    Energy Technology Data Exchange (ETDEWEB)

    Zelinka, L. [Biomedical Sciences Program, Kent State University, Kent, OH (United States); McCann, S.; Budde, J.; Sethi, S.; Guidos, M.; Giles, R. [Center for Applied Chemical Biology, Department of Biological Sciences, Youngstown State University, One University Plaza, Youngstown, OH 44555 (United States); Walker, G.R., E-mail: grwalker@ysu.edu [Center for Applied Chemical Biology, Department of Biological Sciences, Youngstown State University, One University Plaza, Youngstown, OH 44555 (United States); Biomedical Sciences Program, Kent State University, Kent, OH (United States)

    2011-08-05

    Highlights: {yields} Affinity purification of the autoimmune rippling muscle disease immunogenic domain of titin. {yields} Partial sequence analysis confirms that the peptides is in the I band region of titin. {yields} This region of the human titin shows high degree of homology to mouse titin N2-A. -- Abstract: Autoimmune rippling muscle disease (ARMD) is an autoimmune neuromuscular disease associated with myasthenia gravis (MG). Past studies in our laboratory recognized a very high molecular weight skeletal muscle protein antigen identified by ARMD patient antisera as the titin isoform. These past studies used antisera from ARMD and MG patients as probes to screen a human skeletal muscle cDNA library and several pBluescript clones revealed supporting expression of immunoreactive peptides. This study characterizes the products of subcloning the titin immunoreactive domain into pGEX-3X and the subsequent fusion protein. Sequence analysis of the fusion gene indicates the cloned titin domain (GenBank ID: (EU428784)) is in frame and is derived from a sequence of N2-A spanning the exons 248-250 an area that encodes the fibronectin III domain. PCR and EcoR1 restriction mapping studies have demonstrated that the inserted cDNA is of a size that is predicted by bioinformatics analysis of the subclone. Expression of the fusion protein result in the isolation of a polypeptide of 52 kDa consistent with the predicted inferred amino acid sequence. Immunoblot experiments of the fusion protein, using rippling muscle/myasthenia gravis antisera, demonstrate that only the titin domain is immunoreactive.

  16. Pharmacodynamics of remifentanil blunting responses to tracheal intubation performed under peopofol anesthesia administered by TCI In patients with myasthenia gravis%复合靶控输注异丙酚时瑞芬太尼抑制重症肌无力患者气管插管反应的药效学

    Institute of Scientific and Technical Information of China (English)

    石好; 左明章; 孟小燕; 闫春伶; 杨宁

    2009-01-01

    目的 探讨复合靶控输注异丙酚时瑞芬太尼抑制重症肌无力患者气管插管反应的药效学.方法 拟行经胸骨正中劈开胸腺切除术的重症肌无力患者45例,ASA Ⅰ或Ⅱ级,TCI异丙酚和瑞芬太尼进行麻醉诱导,异丙酚血浆靶浓度为4 μg/ml,瑞芬太尼初始效应室靶浓度(Ce)为1.8 ng/ml,依次按2.7、4.0、6.0 ng/ml梯度递增,至患者可耐受喉麻管置入声门下进行气管内表麻后,进行气管插管.采用概率单位回归分析法分别计算瑞芬太尼抑制气管插管反应的Ce50和Ce95.结果 瑞芬太尼抑制气管插管反应的Ce50为2.2 ng/ml,其95%可信区间为2.0~2.3 ng/ml;抑制气管插管反应的Ce95为3.0 ng/ml,其95%可信区间为2.8~3.5 ng/ml.结论 复合靶控输注异丙酚(血浆靶浓度为4 μg/ml)时,瑞芬太尼抑制重症肌无力患者气管插管反应的Ce50和Ce95分别为2.2、3.0 ng/ml.%Objective To investigate the pharmacodynamies of remifentanil blunting the responses to tracheal intubation performed under propofol anesthesia in patients with myasthenia gravis. Methods Forty-five ASA Ⅰ or Ⅱ patients with myasthenia gravis aged 18-64 yr weighing 45-95 kg scheduled for trans-stemal thymectomy were enrolled in this study. ECG, BP, HR, SpO2 and BIS were monitored. Anesthesia was induced with propofol and remifentanil both administered by TCI. The target plasma concentration (Cp) of propofol was set at 4 μg/ml during induction. The initial target effect-site concentration (Ce) of remifentanil was set at 1.8 ng/ml and was increased step by step to 2.7, 4.0 and 6.0 ng/ml until the patients could tolerate laryngoscopy and insertion of larynx unesthetic tube into subglottic space without body movement, coughing or bucking. Topical anesthesia of trachea was then performed by spraying 2% lidocaine 2 ml through the larynx anesthetic tube. Laryngoscope and larynx anesthetic tube were removed and the patients were ventilated with O2 through anesthetic mask

  17. Animal models of antimuscle-specific kinase myasthenia.

    Science.gov (United States)

    Richman, David P; Nishi, Kayoko; Ferns, Michael J; Schnier, Joachim; Pytel, Peter; Maselli, Ricardo A; Agius, Mark A

    2012-12-01

    Antimuscle-specific kinase (anti-MuSK) myasthenia (AMM) differs from antiacetylcholine receptor myasthenia gravis in exhibiting more focal muscle involvement (neck, shoulder, facial, and bulbar muscles) with wasting of the involved, primarily axial, muscles. AMM is not associated with thymic hyperplasia and responds poorly to anticholinesterase treatment. Animal models of AMM have been induced in rabbits, mice, and rats by immunization with purified xenogeneic MuSK ectodomain, and by passive transfer of large quantities of purified serum IgG from AMM patients into mice. The models have confirmed the pathogenic role of the MuSK antibodies in AMM and have demonstrated the involvement of both the presynaptic and postsynaptic components of the neuromuscular junction. The observations in this human disease and its animal models demonstrate the role of MuSK not only in the formation of this synapse but also in its maintenance.

  18. Mannose-binding Lectin Mediated Complement Pathway in Autoimmune Neurological Disorders.

    Science.gov (United States)

    Farrokhi, Mehrdad; Dabirzadeh, Mehrnoosh; Dastravan, Nastaran; Etemadifar, Masoud; Ghadimi, Keyvan; Saadatpour, Zahra; Rezaei, Ali

    2016-06-01

    Multiple sclerosis (MS) is a complex, demyelinating disease of the central nervous system (CNS) with variable phenotypic presentations, while Guillain-Barre Syndrome (GBS) is the prototypic acute inflammatory disorder that affects the peripheral nervous system. Myasthenia gravis (MG) is a T cell dependent and antibody mediated autoimmune disease. Although it has been shown that complement plays a critical role in the pathogenesis of MS, GBS, and MG, the role of mannose-binding lectin (MBL) as a biomarker of immunopathogensis of these diseases and also its association with the severity of them have been poorly investigated. Therefore, in this study we aimed to measure plasma levels of MBL in patients with MS, GBS, and MG. In a case-control study, plasma was obtained from healthy controls (n=100) and also patients with MS (n=120), GBS (n=30), and MG (n=30). Plasma level measurement of MBL was performed using enzyme-linked immunosorbent assay (ELISA). The mean serum level of MBL was significantly different between groups of patients and healthy controls (p<0.001). We also found a positive correlation between plasma levels of MBL and severity scores of MS, MG, and GBS patients including: expanded disability status scale (EDSS) (r=+0.60 and p=<0.001), quantitative myasthenia gravis score (QMGS) (r=+0.56 and p=0.01), and GBS disability scale (GDS) (r=+0.37 and p=0.04). Taken together, our findings suggest that complement activation mediated by MBL contributes to the pathogenesis and also severity of MS, MG, and GBS. However, because the lectin pathway can be involved in several phases of the immune response, further evidence will be required to elucidate the underlying mechanism. PMID:27424141

  19. Avaliação clínica, endoscópica e manométrica da deglutição em pacientes com miastenia grave autoimune adquirida Clinical, endoscopical and manometric evaluation of swallowing in patients with myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Adriana Leico Oda

    2002-12-01

    Full Text Available Apresentamos 22 pacientes com diagnóstico de miastenia grave autoimune adquirida (MGAA, com queixa de disfagia orofaríngea, avaliados pela análise fonoaudiológica, nasofibrolaringoscópica e manométrica de esfíncter esofágico superior, com o objetivo de avaliar as fases do processo de deglutição e os aspectos anatômicos e funcionais do sistema estomatognático. A idade dos pacientes variou de 19 a 74 anos; 19 (86,4% eram do sexo feminino e 3 (13,6% do masculino. Os principais achados foram: (1 correlação entre avaliação fonoaudiológica e nasofibrolaringoscópica; (2 alterações do sistema estomatognático, em 100% dos casos; (3 desordens da mastigação / deglutição presentes em 100% dos pacientes, à avaliação fonoaudiológica e em 81,8%, à nasofibrolaringoscópica; (4 associação entre penetração/aspiração e episódios de pneumonia; (5 comprometimento muscular do sistema estomatognático, acúmulo de resíduos, escape precoce do bolo para a faringe e episódios de penetração/aspiração apresentaram correlação nítida com diminuição da contração faríngea. Estes achados justificam a necessidade de avaliar as fases do processo de deglutição em pacientes com MGAA, com o objetivo de propiciar uma orientação adequada e prevenir episódios de pneumonia aspirativa, desnutrição e desidratação, devido à administração inadequada de alimentação via oral.Dysphagia, or difficulty swallowing, is a common problem following myasthenia gravis (MG and may lead to aspiration of saliva, food or liquids. We herein present 22 MG patients, with complaint of dysphagia, evaluated by phonoaudiological evaluation, nasofibrolaryngoscopical analysis and manometry of upper esophageal sphincter. The main objective was to evaluate the phases of the swallowing process and anatomical and functional aspects of oropharyngeal musculature. The age of patients varied from 19 to 74 years; being 19 female and 3 male. The main data were

  20. 分阶段心理护理对重症肌无力机械通气患者撤机时间的影响%The impact of programmatic psychological nursing on the time length of ventilator weaning in myasthenia gravis patients with mechanical ventilation

    Institute of Scientific and Technical Information of China (English)

    冯洁贞; 吴婉玲; 苏永静

    2010-01-01

    目的 探讨分阶段心理护理对重症肌无力机械通气期患者撤机时间的影响.方法 选择重症肌无力机械通气期的ICU患者作为实验组(n=44),根据其生理基础、血气分析结果等确定其撤机时间,根据不同的过渡阶段应用护理程序对其实施有计划性、有针对性、个体化的心理护理,对照组(n=42)仅采用从CMV+→SIMV+→SPONT→间歇脱机→完全撤机的方法.记录并比较两组患者撤机的时间及住院天数.结果 对照组平均撤机时间为18 d,实验组为14 d,实验组的撤机时间低于对照组,但差异无统计学意义(P=0.752);对照组患者的住院天数比实验组长,差异有统计学意义(P=0.039).结论 在重症肌无力患者机械通气的不同阶段,及时有效地实施个体化的分阶段心理护理,可以缩短患者的撤机时间及住院天数,从而提高治疗护理效果,减轻了患者的痛苦及经济负担.%Objective To investigate the impact of psychological nursing on time length of ventilator weaning in patients with myasthenia gravis (MG). Methods Forty-four MG patients with mechanical ventilation were enrolled to the testing group. In this group, the time of ventilator weaning was determined according to the results of basic status and blood gas analysis. Furthermore, the designed, targeted and individuated psychological care was conducted in this group at different phases. In the control group, only the programmatic method of ventilator weaning was used with the steps of CMV, SIMV, SPONT, intermittence and completely weaning. The time length of ventilator weaning and the length of stay were compared between two groups.Results The time length of weaning in testing group was 14 days comparing with 18 days in control group.Although there was no statistical significance ( P = 0.752), the time length of ventilator weaning in testing group was shorter than that in control group. The length of stay was longer in control group than that in

  1. Therapeutic plasma exchange in a patient with myasthenia gravis.

    Science.gov (United States)

    Dyar, Kelly L

    2013-01-01

    Tom was an interesting combination of a patient requiring both renal placement therapy and TPE. Because there are available through the inpatient dialysis unit, it provided an opportunity to educate Tom on apheresis treatments as well as treatment options for chronic disease. Discussion with Tom during these treatments revealed that he wanted to retain as much autonomy and responsibility for his care as possible. Collaboration with the nephrologists and neurologist, as well as the outpatient infusion center, allowed Tom to schedule treatments before he experienced a myasthenic crisis but also hospitalization, which could increase his risk of infection. The time he spent receiving the TPE treatments was a unique and wonderful opportunity to answer all of Tom's questions about treatment modalities and allowed nursing staff to advocate fully for his wishes. At the time of this writing, Tom has remained free of myasthenic symptoms and has not required TPE treatments for over two years. PMID:24579400

  2. Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome & Congenital Myasthenic Syndromes

    Science.gov (United States)

    ... inflammation of the pancreas, liver toxicity, bone marrow suppression and possibly an increased risk of cancer. Mycophenylate ... in LEMS temporarily improves after exer- tion. (It’s thought that, with repeated activity, calcium gradually builds up ...

  3. 预防性双类似物鼻粘膜耐受对EAMG的影响%Prophylactic effects of nasal tolerance with dual analogue on experimental autoimmune myasthenia gravis in Lewis rats

    Institute of Scientific and Technical Information of China (English)

    王丽华; 王化冰; 富羽弘; 王维治

    2004-01-01

    目的选择双类似物(Lys262-Ala207)通过不同时间点对实验性自身免疫性重症肌无力(EAMG)模型进行鼻粘膜耐受预防性给药,观察其临床及免疫指标变化,并评价疗效,探讨预防性鼻粘膜耐受在EAMG中的预防作用机制.方法应用乙酰胆碱受体(AChR)加CFA致敏Lewis大鼠建立EAMG模型,并在致敏前10 d(预防耐受A组)及致敏当日(预防耐受B组)给予耐受肽Lys262-Ala207及相应对照组CA、CB采用相同剂量对照肽MBP-p83-99鼻腔给药.检测给药后A、B组及相应对照组大鼠的体重、临床评分、肌电图、肌肉中AChR含量丢失变化及致敏第42 d血清抗AChR抗体IgG含量.结果急性期和慢性期A、B组体重明显超过相应对照组,临床症状明显轻于相应对照组,慢性期A组体重明显超过B组、病情明显轻于B组;A、B组低频重复电刺激出现衰减反应D5阳性率低于相应对照组;A、B组肌肉AChR含量丢失分别明显低于相应对照组,而A组低于B组;慢性期42 d A、B组lgG含量明显低于相应对照组,同时A组明显低于B组.结论本实验表明,预防耐受的疗效与自身免疫启动时间有关,启动前优于启动时耐受;双类似物鼻粘膜耐受预防不仅可有效地抑制临床症状,且可特异性减低致病性循环抗体含量和减少神经肌接头AChR含量丢失,为采用双类似物鼻粘膜耐受防治人类重症肌无力(MG)提供了依据.

  4. Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Kämpe Olle

    2007-12-01

    Full Text Available Abstract Background A disturbance in the immune system has been described in Turner syndrome (45,X, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X, thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7–65 years were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase. Results The autoantibodies investigated were not overrepresented among the Turner patients. Conclusion The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.

  5. Outcome of Extended Thymectomy in Myasthenia Crisis Patient.

    Science.gov (United States)

    Aftabuddin, M; Bhandari, S

    2016-07-01

    Myasthenic crisis is a life-threatening condition. We studied the demographic, frequency, causes and clinical presentation of isolated Myasthenic crisis, steps of treatment and to review our experience of extended thymectomy on patients with at least one episode myasthenic crisis. A prospective and retrospective study was conducted on patients with at least one episode of myasthenic crisis, from March 2010 to September 2014, at the Department of Cardiac Surgery, BSMMU, Dhaka, Bangladesh who were referred for thymectomy. Eighteen patients (13.6% of the total 132 patients with myasthenia gravis were admitted with single to multiple episodes of myasthenic crisis, median crisis was 2.5 episodes. Mean age of the patient was 35.5 (18-72) years with male predominance. All eighteen patients had undergone extended thymectomy after completion of 5 cycle plasmapheresis, of which 2 had experienced postoperative respiratory crisis, required invasive ventilator support for median 14 days. One patient required invasive ventilator support after third post operative day. Six patients had thymoma and 12 had thymic hyperplasia. Three patients needed Intravenous immunoglobin. Nine patients needed post operative anti acetylcholinesterase inhibitor after median 2.5 post days. Post thymectomy remission and decreases the frequency of myasthenic crisis was seen in follow up and post operative medication requirement reduced significantly as compared to the preoperative requirement. This report highlights that the patients who had extended thymectomy after episodes of myasthenia crisis are benefitted even in the histhopathology report does not confirmed thymoma. After thymectomy, there was remission of myasthenic crisis. Patients with myasthenic crisis should have judicious drug adjustments under supervision and should be treated aggressively during impending myasthenic crisis. With modern management of myasthenia gravis, early surgery with myasthenic crisis is safe with good long

  6. Outcome of Extended Thymectomy in Myasthenia Crisis Patient.

    Science.gov (United States)

    Aftabuddin, M; Bhandari, S

    2016-07-01

    Myasthenic crisis is a life-threatening condition. We studied the demographic, frequency, causes and clinical presentation of isolated Myasthenic crisis, steps of treatment and to review our experience of extended thymectomy on patients with at least one episode myasthenic crisis. A prospective and retrospective study was conducted on patients with at least one episode of myasthenic crisis, from March 2010 to September 2014, at the Department of Cardiac Surgery, BSMMU, Dhaka, Bangladesh who were referred for thymectomy. Eighteen patients (13.6% of the total 132 patients with myasthenia gravis were admitted with single to multiple episodes of myasthenic crisis, median crisis was 2.5 episodes. Mean age of the patient was 35.5 (18-72) years with male predominance. All eighteen patients had undergone extended thymectomy after completion of 5 cycle plasmapheresis, of which 2 had experienced postoperative respiratory crisis, required invasive ventilator support for median 14 days. One patient required invasive ventilator support after third post operative day. Six patients had thymoma and 12 had thymic hyperplasia. Three patients needed Intravenous immunoglobin. Nine patients needed post operative anti acetylcholinesterase inhibitor after median 2.5 post days. Post thymectomy remission and decreases the frequency of myasthenic crisis was seen in follow up and post operative medication requirement reduced significantly as compared to the preoperative requirement. This report highlights that the patients who had extended thymectomy after episodes of myasthenia crisis are benefitted even in the histhopathology report does not confirmed thymoma. After thymectomy, there was remission of myasthenic crisis. Patients with myasthenic crisis should have judicious drug adjustments under supervision and should be treated aggressively during impending myasthenic crisis. With modern management of myasthenia gravis, early surgery with myasthenic crisis is safe with good long

  7. Sjögren syndrome and neuromyelitis optica spectrum disorder co-exist in a common autoimmune milieu

    Directory of Open Access Journals (Sweden)

    Diogo C. Carvalho

    2014-06-01

    Full Text Available The relationship between Sjögren’s syndrome (SS and neuromyelitis optica spectrum disorder (NMOSD is not completely understood. We report two patients with both conditions and review 47 other previously reported cases meeting currently accepted diagnostic criteria, from 17 articles extracted from PubMed. Out of 44 patients whose gender was informed, 42 were females. Mean age at onset of neurological manifestation was 36.2 years (10-74. Serum anti-AQP4-IgG was positive in 32 patients, borderline in 1, and negative in 4. Our Case 1 was seronegative for AQP4-IgG and had no non-organ-specific autoantibodies other than anti-SSB antibodies. Our Case 2 had serum anti-AQP4, anti-SSA/SSB, anti-thyreoglobulin and anti-acethylcholine-receptor antibodies, as well as clinical hypothyreoidism, but no evidence of myasthenia gravis. Our Cases and others, as previously reported in literature, with similar heterogeneous autoimmune response to aquaporin-4, suggest that SS and NMO co-exist in a common autoimmune milieu which is not dependent on aquaporin-4 autoimmunity.

  8. 重症肌无力患者外周血CD4+T细胞OX40的表达及作用机制研究%The expression of co-stimulatory molecule OX40 on CD4+T-cells and its' pathogenetic role in patients with myasthenia gravis

    Institute of Scientific and Technical Information of China (English)

    方琪; 李丽; 蔡秀英; 薛群; 蒋建华; 段晓宇; 王达鹏

    2011-01-01

    目的 分析重症肌无力(MG)患者外周血CD4+T细胞协同刺激分子OX40表达及其对FoxP3+CD4+CD25+调节性T细胞(Treg)的调控作用,初步探讨OX40在MG免疫学发病中的作用机制.方法 以流式细胞技术检测42例MG患者及38名健康对照的外周血OX40+CD4+T细胞、FoxP3+CD4+CD25+Treg表达水平,比较OX40表达在MG患者不同临床疾病状态、Osserman分型、临床绝对评分、胸腺病理类型等情况下的差异,并分析OX40对FoxP3+CD4+CD25+Treg细胞的影响.结果 (1) MG患者外周血OX40+CD4+T细胞占淋巴细胞百分比高于健康对照组(P<0.01).(2)MG患者OX40+CD4+T细胞百分比在发作或加重期高于缓解期(P<0.05);在临床绝对评分呈中、重度患者OX40+CD4+T细胞百分比高于轻度患者(均P<0.05);Osserman Ⅱ、Ⅳ型患者OX40+CD4+T细胞百分比高于Ⅰ型患者(均P<0.05);胸腺增生及胸腺瘤患者OX40+CD4+T细胞百分比高于胸腺正常患者(P<0.05,P<0.01).(3)MG患者外周血OX40+CD4+T细胞百分比与FoxP3+CD4+CD25+Treg细胞百分比呈负相关(r=-0.843,P=0.01).结论 协同刺激分子OX40参与MG发病,可能通过抑制FoxP3+CD4+CD25+Treg细胞生成发挥作用.%Objective To investigate the expression of co-stimulatory molecule OX40 on CD4+ T cells in peripheral blood in myasthenia gravis (MG) patients and the correlation between OX40 level and Foxp3+CD4+ CD25+T regulatory cells (Tregs), and then to explore the pathogenesis of OX40 in MG. Methods Forty-two patients with MG and 38 healthy individuals were recruited. The percentage of OX40+CD4+T cells and Foxp3+ CD4+CD25+Tregs in peripheral blood were detected by using flow cytometry (FCM). The counts of OX40+ CD4+ T cells were compared among different groups, divided according to clinical conditions, Osserman classification, clinical absolute score, and pathologic types of thymus. The correlation between the level of OX40 and the Foxp3+CD4+CD25+ Tregs was analyzed. Results OX40+ CD4+ T cell number

  9. Intrathymic miR-548k modulating CXC chemokine ligand 13 expression in myasthenia gravis patients with thymic hyperplasia%重症肌无力伴胸腺增生患者胸腺内miR-548k调控CXCL13表达的研究

    Institute of Scientific and Technical Information of China (English)

    李劲频; 陈泽志; 邱笛; 杜伟伟; 刘竞丽; 莫雪安

    2014-01-01

    Objective To explore the microRNAs regulation of CXC chemokine ligand 13 (CXCL13) in patients with myasthenia gravis combined with thymic hyperplasia (MGH).Methods Thirteen MGH tissues and 13 normal thymus tissues,collected in our hospital from March 2012 to August 2013,were used in our study.Total RNAs from these tissues were extracted by trizol and hybridized with the microarray.The miRNAs targeting CXCL13 gene-3'untranslated region were predicted by using bioinformatics.Real-time fluorogenic quantitative PCR (QRT-PCR) was employed to detect the expressions ofCXCL13 mRNAs and microRNAs in thymus tissues.Luciferase assay was used to analyze the miRNAs modulated CXCL13 expression.Results The miRNA microarray chip analysis identified 33 miRNAs differentially expressed in MGH tissues as compared with those in the control group,miR-548k was one of most obvious down-regulated miRNAs (1.98 fold).Bioinformatical analysis indicated that miR-548k can target CXCL13 3' UTR.QRT-PCR showed that the expression of CXCL13 mRNA was up-regulated and miR-548k was down-regulated in thymus hyperplasia tissues of MGH group as compared with those in the control group(4.93±l.95 vs.1.04±0.20; 0.55±0.20 vs.1.33±0.36,P<0.05); and they showed a negative correlation (r=-0.93,P=0).003).As compared with that in the control group (1.000±0.050),the luciferase activity of pmiR-RB-REPORTTM-CXCL13-3'UTR treated with miR-548k mimics (0.385±0.016) decreased 61.5%,with significant difference (P<0.05).Conclusion MiR-548k inhibits CXCL13 expression by post-transcriptional gene silencing to promote MG development and progression.%目的 探讨重症肌无力伴胸腺增生(MGH)患者胸腺内B细胞趋化因子13(CXCL13)表达的微小RNA(miRNAs)调控机制.方法 收集26例胸腺标本,分别来源于自2012年3月至2013年8月在广西医科大学第一附属医院心胸外科住院确诊为重症肌无力并行胸腺完整切除术的13例患者(MGH组),以及同期因先天性心

  10. A clinical evaluation of the effect of sevoflurane or propofol in combination with remifentanil in myasthenia gravis patients undergoing thymectomy%七氟烷或丙泊酚复合瑞芬太尼麻醉在重症肌无力患者胸腺切除术中的应用

    Institute of Scientific and Technical Information of China (English)

    吕宝胜; 王卓强; 王卫; 解恩宇; 房芳; 张晨

    2013-01-01

    Objective To explore the application and clinical effect of either sevoflurane or propofol combined with remifentanil in anesthesia of patients with myasthenia gravis (MG) undergoing a transsternal thymectomy.Methods One hundred and fifty-six MG patients who underwent transsternal thymectomy in 309 Hospital of PLA from July 2008 to June 2011 were enrolled.Eighty patients were anesthetized with remifentanil and propofol infused with a target-controlled infusion plasma model (P group),and 76 patients were anesthetized with sevoflurane plus remifentanil (S group).No muscle relaxant was used.Neuromuscular transmission was monitored by a train-of-four (TOF) ratio.The hemodynamics in each time point was recorded,the arterial blood gas analysis of basal and the time-to-extubation and respiratory rate were evaluated.Simultaneously,anesthetic time,operating time,the time-to-awakening,the time-stay-in-PACU,liquid amount and dosage of remifentanil were recorded.Results All surgical procedures were completed successfully.Neuromuscular transmission significantly decreased in the S group,of which the each-time-point value of the TOF ratio decreased significantly compared with that in P group (P<0.05) during the operation.The post-operative pH,PaCO2 and PaO2 were significantly different between the two groups,with an increasing pH & PaCO2 and a decreasing PaO2 in P group (P<0.05).The wakeup and extubation time,the stay-in-PACU and dosage of remifentanil significantly decreased in S group (P<0.05).No differences were observed in hemodynamics,BIS,operative and anesthetic time,and liquid amount between the two groups (P>0.05).Conclusion It is found that anesthesia in MG patients undergoing transstrenal thymectomy can be performed safely with sevoflurane or propofol in combination with remifentanil without the use of muscle relaxant.The anesthesia with sevoflurane plus remifentanil may have a reversible muscular relaxant effect and a faster recovery of neuromuscular

  11. The investigation of expression level of TSLP in thymus and the phenotype of CD4+CD25+Foxp3+ Treg cells in patients with myasthenia gravis%重症肌无力胸腺基质淋巴细胞生成素表达与CD4+CD25+Foxp3+Treg细胞表型的研究

    Institute of Scientific and Technical Information of China (English)

    孙延鹏; 卢祖能; 孙强; 杨超; 王云甫

    2012-01-01

    Objective To investigate the correlation between expression level of thymic stromal lymphopoietin (TSLP) in thymus and the expression of CD4+ CD25+ Foxp3+ Treg cells in patients with myasthenia gravis (MG). Methods The ratio of CD4+ CD25+ Foxp3+ Treg/CD4+ T cell were tested by flow cytometry from peripheral blood mononuclear cell which has been dealt with CD4+CD25+ antibody on the surface of the cell and Foxp3+ antibody into the cell in 16 patients with MG and 23 patients with congenital heart disease (control group). At the same time, thymuses cut from the corresponding patients were obtained to count the amount of TSLP positive Hassell corpuscles, the amount of TSLP positive Hassell corpuscles was compared between the two groups. The correlation between the amount of TSLP positive Hassall's corpuscles and CD4+ CD25+ Foxp3+ Treg cells expression was analyzed by logistic regression test. Results There was no statistical difference of the ratio of CD4+ CD25+ T/CD4+ T cells between the MG group [ (6. 24 + 0. 62) %] and the control group [ (6. 56 ±0. 65) %] (P>0. 05), but the ratio of CD4+ CD25+ Foxp3+ Treg/CD4+ T cells in MG group [ (6. 24 ± 0. 62)%] was significantly lower than that in the control group [ (5. 73 ±0. 56)%] (F<0. 01). The number of TSLP positive Hassell corpuscles in MG group was significantly fewer than that in the control group (6. 81 + 2. 17 versus 18. 87 + 3. 06, P<0. 01). The logistic regression analysis demonstrated that the expression of TSLP in the MG groups was linear related with the expression of Treg cells (R2 =0. 158, F= 13. 42, P< 0. 01). Conclusions The inadequate expression of TSLP is positively related to phenotype defiiency of the CD4+ CD25+Foxp3+ during Treg cell growth.%目的 探索重症肌无力患者胸腺基质淋巴细胞生成素(TSLP)表达水平与CD4+CD25+Foxp3+调节性T细胞(Treg)表型的相关性.方法 MG组(16例经胸腺切除的MG患者)及对照组(23例先天性心脏病心脏手术后患者)取

  12. The Relationship between AChR-Ab and the Post-thymectomy Clinical Outcome of Generalized Myasthenia Gravis%乙酰胆碱受体抗体与全身型重症肌无力手术预后的关系

    Institute of Scientific and Technical Information of China (English)

    刘天芳; 任明山; 吴元波; 杨毅

    2015-01-01

    Aim To compare the clinical outcome of the post-thymectomy between generalized myasthenia gravis (gMG) with acetylcholine receptor antibody (AChR-Ab) positive and AChR-Ab negative. Methods124 cases of gMG who were retrospectively reviewed had received video-assisted thoracoscopic thymectomy in the thoracic surgery. According to the type of the serum antibodies, the patients were divided in to AChR-Ab-positive group and AChR-Ab-negative group. The primary endpoint was to assess differences in the rate of complete stable remission (CSR) in patients in the two groups.ResultsThere were 81 patients in the AChR-Ab positive group, and 43 patients in AChR-Ab-negative group, there was no signiifcant difference among the three groups regarding sex, age at onset and disease duration, and thymus pathology. One case in AChR-Ab-positive group was lost, two cases in AChR-Ab-negative group were lost. Until the deadline of follow-up time of Sep. 2014, a total of 121 patients were followed, including 80 cases in AChR-Ab-positive group, 41 cases in AChR-Ab-negative group. Follow-up time was 15 to 84 months, mean (44.9±19.9) months in AchR-Ab positive group, mean (48.2±20.3) months in AChR-Ab-negative group. The complete stable remission rate (CSR) in AChR-Ab-positive group was 48.8%, in the AChR-Ab-negative group theP vaule was 26.8%. The CSR in the AChR-Ab-positive group was higer than that in the AChR-Ab-negative group [(χ2=5.372,P=0.020)]. The overall remission rate in the AChR-Ab-positive group was 85.1%, and 73.2% in the AChR-Ab-negative. There was no signiifcant difference in the overall remission rate between the two group. By Kaplan–Meier analysis, there was signiifcant difference in CSR rates between AChR-Ab-positive group and AChR-Ab-negative group (P=0.03).Conclusion Long-term post-thymectomy clinical outcome was better in AChR-Ab-positive group than in AChR-Ab-negative group, but our results showed no differences in the overall remission rate.%目的:比较乙酰

  13. Difference in time-course of relaxant effect of rocuronium between patients with ocular and generalized myasthenia gravis%眼肌型和全身型重症肌无力患者罗库溴铵肌松时效的比较

    Institute of Scientific and Technical Information of China (English)

    曹迎亚; 鲁卫华; 姜小敢; 金孝岠; 鲁美静

    2013-01-01

    Objective To compare the time-course of relaxant effect of rocuronium between patients with ocular and generalized myasthenia gravis (MG).Methods Twenty-seven ASA physical status I or Ⅱ patients with MG of both sexes,aged 12-64 yr,with body mass index of 17-26 kg/m2,scheduled for elective extended thymectomy,were divided into 2 groups according to Osserman stage:ocular group (group O,n =10) and generalized group (group G,n =17).Anesthesia was induced with iv injection of fentanyl 2 μg/kg,midazolam 0.05 mg/kg,and propofol 1.5 mg/kg.All patients were tracheal intubated and mechanically ventilated.Anesthesia was maintained with iv infusion of propofol 4-8 mg· kg-1 · h-1 and remifentanil 0.2 μg· kg-1 · min-1.Twitch tension was monitored in the adductor pollicis muscle by train-of-four stimulation of the ulnar nerve (intensity 60 mA,interval 12 s,frequency 2 Hz,wave length 0.2 ms).Rocuronium 0.6 mg/kg was injected intravenously after calibration.Mean arterial pressure (MAP),HR,heart rate variability (HRV) and low frequency and high frequency (LF/HF) ratio was recorded.The onset time of muscle relaxation,time for T1 to recover to 25%,time for T1 to recover to 50% and recovery index were recorded.Results Compared with the baseline value,there were no significant changes in MAP,HR,HRV,LF/HF ratio at all time points in the two groups (P > 0.05).Compared with group O,there was no significant change in the onset time of muscle relaxation,and the time for T1 to recover to 25%,time for T1 to recover to 50% and recovery index were significantly prolonged in group G (P < 0.05).Conclusion The duration of rocuronium-induced neuromuscular block is significantly longer in patients with generalized MG than those with ocular MG,while the onset time is comparable between the two groups.%目的 比较眼肌型和全身型重症肌无力患者罗库溴铵的肌松时效.方法 择期行胸骨正中切口胸腺切除术的27例患者,性别不限,年龄12 ~64

  14. Different familial association patterns of autoimmune diseases between juvenile-onset systemic lupus erythematosus and juvenile rheumatoid arthritis.

    Science.gov (United States)

    Huang, Chun-Mei; Yang, Yao-Hsu; Chiang, Bor-Luen

    2004-04-01

    The aim of this study was to determine if the prevalence of autoimmune disorders in the relatives of patients with systemic lupus erythematosus (SLE) is greater than that of relatives of patients with juvenile rheumatoid arthritis (JRA). Interviews were used to obtain histories of the following autoimmune disorders among living or deceased first-, second-, and third-degree relatives of 91 SLE and 110 JRA families: ankylosing spondylitis, SLE, rheumatoid arthritis (RA), JRA, multiple sclerosis, juvenile dermatomyositis, Sjögren's syndrome, myasthenia gravis, psoriasis, and thyroid diseases. There were statistically significant differences between the SLE and JRA probands in mean age and gender ratio (19.1 +/- 4.8 vs 14.0 +/- 5.5 years; M (male)/F (female): 17/74 vs 62/48, pJRA families (11.8%), but not statistically significantly so. The mean age (18.0 +/- 5.3 vs 14.0 +/- 4.3 years), mean age at diagnosis (13.4 +/- 4.3 vs 7.9 +/- 3.9 years) and gender ratio (F/M, 16/3 vs 5/8) of the patients with affected relatives between these 2 groups all had statistically significant differences. A higher prevalence of SLE in relatives was found in SLE families than in JRA cases. Furthermore, this study revealed a higher incidence of autoimmune disorders among second- and third-degree relatives of SLE or JRA probands versus first-degree ones, especially sisters (including 1 pair of twins) and the maternal aunt in SLE families. These data demonstrate that the prevalence of autoimmune disorders in the relatives of patients with SLE is greater than those of relatives of patients with JRA. This suggests that clinically different autoimmune phenotypes may share common susceptibility genes, which may act as risk factors for autoimmunity.

  15. Infections and autoimmune diseases.

    Science.gov (United States)

    Bach, Jean-François

    2005-01-01

    The high percentage of disease-discordant pairs of monozygotic twins demonstrates the central role of environmental factors in the etiology of autoimmune diseases. Efforts were first focussed on the search for triggering factors. The study of animal models has clearly shown that infections may trigger autoimmune diseases, as in the case of Coxsackie B4 virus in type I diabetes and the encephalomyocarditis virus in autoimmune myositis, two models in which viruses are thought to act by increasing immunogenicity of autoantigens secondary to local inflammation. The induction of a Guillain-Barré syndrome in rabbits after immunization with a peptide derived from Campylobacter jejuni is explained by mimicry between C. jejuni antigens and peripheral nerve axonal antigens. Other models involve chemical modification of autoantigens, as in the case of iodine-induced autoimmune thyroiditis. These mechanisms have so far only limited clinical counterparts (rheumatic fever, Guillain-Barré syndrome and drug-induced lupus or myasthenia gravis) but one may assume that unknown viruses may be at the origin of a number of chronic autoimmune diseases, such as type I diabetes and multiple sclerosis) as illustrated by the convergent data incriminating IFN-alpha in the pathophysiology of type I diabetes and systemic lupus erythematosus. Perhaps the difficulties met in identifying the etiologic viruses are due to the long lag time between the initial causal infection and onset of clinical disease. More surprisingly, infections may also protect from autoimmune diseases. Western countries are being confronted with a disturbing increase in the incidence of most immune disorders, including autoimmune and allergic diseases, inflammatory bowel diseases, and some lymphocyte malignancies. Converging epidemiological evidence indicates that this increase is linked to improvement of the socio-economic level of these countries, posing the question of the causal relationship and more precisely the

  16. Surgery Effective Against Immune Disorder That Weakens Muscles

    Science.gov (United States)

    ... html Surgery Effective Against Immune Disorder That Weakens Muscles Myasthenia gravis affects 60,000 Americans, but removal ... gravis, an autoimmune disorder that causes life-threatening muscle weakness, researchers report. Since the 1940s, doctors have ...

  17. Randomized controlled clinical trial of middle-dose cyclophosphamide plus methylprednisolone for myasthenia gravis patients in crisis%中剂量环磷酰胺联合甲泼尼龙治疗重症肌无力危象的随机对照临床研究

    Institute of Scientific and Technical Information of China (English)

    冯慧宇; 刘卫彬; 邱力; 黄鑫; 罗传铭; 李言; 王海燕

    2012-01-01

    目的 评价中剂量环磷酰胺(CTX)联合甲泼尼龙治疗重症肌无力(MG)危象的有效性与安全性.方法 采用前瞻、开放、平行和随机对照的研究方法,选择1999年1月至2010年10月在中山大学附属第一医院神经科就诊的156例重症肌无力危象患者作为研究对象,其中CTX组与对照组各78例.CTX组予甲泼尼龙500 mg/d连用3d,后改为250 mg/d,每隔3d剂量减半,直到62.5 mg/d改泼尼松30 mg/d口服维持至试验结束.同时加用CTX 0.4 g静脉推注,连用3d后改为0.4g,隔3 d一次.对照组单独应用甲泼尼龙.根据MG的临床绝对和相对评分法评定疗效.结果 (1) CTX组中54例(69.2%)患者3d内呼吸困难消失,而对照组中36例(46.2%)患者在8~14 d内呼吸困难消失,两组比较差异有统计学意义(P =0.000).(2) CTX组中超过一半的患者在10~14 d内肢体无力(44例,56%)与吞咽功能(47例,60.3%)得到明显的改善,而同样情况的对照组患者28 d后症状改善.两组比较差异有统计学意义(P =0.000).(3) CTX组中,54例(69.2%) MG患者应用CTX总量达到1.2g时呼吸困难消失,而超过一半的患者在CTX总量达到2.8g时才出现吞咽困难(47例,60.3%)与肢体无力(44例,56.4%)的恢复,3组症状改善时需要的CTX总量的差异比较有统计学意义(P =0.000).(4) CTX组在治疗期间并发肺部感染17例(21.8%),对照组并发肺部感染53例(67.9%),两组肺部感染的发生率比较差异有统计学意义(P =0.000).(5) CTX组患者所出现的不良反应短暂且轻微.结论 (1)中剂量CTX联合甲泼尼龙治疗重症肌无力危象是有效且安全的.(2)与甲泼尼龙联用,当CTX总量达到1.6g时,90%的重症肌无力危象患者能成功脱机.%Objective To evaluate the efficacy and safety of middle-dose cyclophosphamide plus methylprednisolone for myasthenia gravis (MG) patients in crisis.Methods For this prospective,open,parallel,randomized controlled trial,we recruited a total

  18. CD8+ T-Cell Deficiency, Epstein-Barr Virus Infection, Vitamin D Deficiency, and Steps to Autoimmunity: A Unifying Hypothesis

    Directory of Open Access Journals (Sweden)

    Michael P. Pender

    2012-01-01

    Full Text Available CD8+ T-cell deficiency is a feature of many chronic autoimmune diseases, including multiple sclerosis, rheumatoid arthritis, systemic lupus erythematosus, Sjögren's syndrome, systemic sclerosis, dermatomyositis, primary biliary cirrhosis, primary sclerosing cholangitis, ulcerative colitis, Crohn's disease, psoriasis, vitiligo, bullous pemphigoid, alopecia areata, idiopathic dilated cardiomyopathy, type 1 diabetes mellitus, Graves' disease, Hashimoto's thyroiditis, myasthenia gravis, IgA nephropathy, membranous nephropathy, and pernicious anaemia. It also occurs in healthy blood relatives of patients with autoimmune diseases, suggesting it is genetically determined. Here it is proposed that this CD8+ T-cell deficiency underlies the development of chronic autoimmune diseases by impairing CD8+ T-cell control of Epstein-Barr virus (EBV infection, with the result that EBV-infected autoreactive B cells accumulate in the target organ where they produce pathogenic autoantibodies and provide costimulatory survival signals to autoreactive T cells which would otherwise die in the target organ by activation-induced apoptosis. Autoimmunity is postulated to evolve in the following steps: (1 CD8+ T-cell deficiency, (2 primary EBV infection, (3 decreased CD8+ T-cell control of EBV, (4 increased EBV load and increased anti-EBV antibodies, (5 EBV infection in the target organ, (6 clonal expansion of EBV-infected autoreactive B cells in the target organ, (7 infiltration of autoreactive T cells into the target organ, and (8 development of ectopic lymphoid follicles in the target organ. It is also proposed that deprivation of sunlight and vitamin D at higher latitudes facilitates the development of autoimmune diseases by aggravating the CD8+ T-cell deficiency and thereby further impairing control of EBV. The hypothesis makes predictions which can be tested, including the prevention and successful treatment of chronic autoimmune diseases by controlling EBV infection.

  19. Same-sex marriage, autoimmune thyroid gland dysfunction and other autoimmune diseases in Denmark 1989-2008.

    Science.gov (United States)

    Frisch, Morten; Nielsen, Nete Munk; Pedersen, Bo Vestergaard

    2014-01-01

    Autoimmune diseases have been little studied in gay men and lesbians. We followed 4.4 million Danes, including 9,615 same-sex married (SSM) persons, for 47 autoimmune diseases in the National Patient Registry between 1989 and 2008. Poisson regression analyses provided first hospitalization rate ratios (RRs) comparing rates between SSM individuals and persons in other marital status categories. SSM individuals experienced no unusual overall risk of autoimmune diseases. However, the risk of autoimmune thyroid dysfunction was increased, notably Hashimoto's thyroiditis (women(SSM), RR = 2.92; 95% confidence interval (CI) 1.74-4.55) and Graves' disease (men(SSM), RR = 1.88; 95% CI 1.08-3.01). There was also an excess of primary biliary cirrhosis (women(SSM), RR = 4.09; 95% CI 1.01-10.7), and of psoriasis (men(SSM), RR = 2.48; 95% CI 1.77-3.36), rheumatic fever (men(SSM), RR = 7.55; 95% CI 1.87-19.8), myasthenia gravis (men(SSM), RR = 5.51; 95% CI 1.36-14.4), localized scleroderma (men(SSM), RR = 7.16; 95% CI 1.18-22.6) and pemphigoid (men(SSM), RR = 6.56; 95% CI 1.08-20.6), while Dupuytren's contracture was reduced (men(SSM), RR = 0.64; 95% CI 0.39-0.99). The excess of psoriasis was restricted to same-sex married men with HIV/AIDS (men(SSM), RR = 10.5; 95% CI 6.44-15.9), whereas Graves' disease occurred in excess only among same-sex married men without HIV/AIDS (men(SSM), RR = 1.99; 95% CI 1.12-3.22). Lesbians and immunologically competent gay men in same-sex marriage face no unusual overall risk of autoimmune diseases. However, the observed increased risk of thyroid dysfunction in these lesbians and gay men deserves further study.

  20. Same-sex marriage, autoimmune thyroid gland dysfunction and other autoimmune diseases in Denmark 1989-2008.

    Science.gov (United States)

    Frisch, Morten; Nielsen, Nete Munk; Pedersen, Bo Vestergaard

    2014-01-01

    Autoimmune diseases have been little studied in gay men and lesbians. We followed 4.4 million Danes, including 9,615 same-sex married (SSM) persons, for 47 autoimmune diseases in the National Patient Registry between 1989 and 2008. Poisson regression analyses provided first hospitalization rate ratios (RRs) comparing rates between SSM individuals and persons in other marital status categories. SSM individuals experienced no unusual overall risk of autoimmune diseases. However, the risk of autoimmune thyroid dysfunction was increased, notably Hashimoto's thyroiditis (women(SSM), RR = 2.92; 95% confidence interval (CI) 1.74-4.55) and Graves' disease (men(SSM), RR = 1.88; 95% CI 1.08-3.01). There was also an excess of primary biliary cirrhosis (women(SSM), RR = 4.09; 95% CI 1.01-10.7), and of psoriasis (men(SSM), RR = 2.48; 95% CI 1.77-3.36), rheumatic fever (men(SSM), RR = 7.55; 95% CI 1.87-19.8), myasthenia gravis (men(SSM), RR = 5.51; 95% CI 1.36-14.4), localized scleroderma (men(SSM), RR = 7.16; 95% CI 1.18-22.6) and pemphigoid (men(SSM), RR = 6.56; 95% CI 1.08-20.6), while Dupuytren's contracture was reduced (men(SSM), RR = 0.64; 95% CI 0.39-0.99). The excess of psoriasis was restricted to same-sex married men with HIV/AIDS (men(SSM), RR = 10.5; 95% CI 6.44-15.9), whereas Graves' disease occurred in excess only among same-sex married men without HIV/AIDS (men(SSM), RR = 1.99; 95% CI 1.12-3.22). Lesbians and immunologically competent gay men in same-sex marriage face no unusual overall risk of autoimmune diseases. However, the observed increased risk of thyroid dysfunction in these lesbians and gay men deserves further study. PMID:24306355

  1. Autoimmune thyroid disease and other non-endocrine autoimmune diseases

    Directory of Open Access Journals (Sweden)

    Todorović-Đilas Ljiljana

    2011-01-01

    Full Text Available Introduction, Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. Autoimmune thyroid disease and other organ specific non-endocrine autoimmune diseases. This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. Autoimmune thyroid disease and other organ non-specific non-endocrine autoimmune diseases. Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sjögren, systemic sclerosis and mixed connective tissue disease. Conclusions. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Other­wise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.

  2. Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelines.

    Science.gov (United States)

    Dalakas, M C

    1999-11-01

    This review summarizes the current status of intravenous immunoglobulin (IVIg) in the treatment of autoimmune neuromuscular disorders and the possible mechanisms of action of the drug based on work in vivo, in vitro, and in animal models. Supply of idiotypic antibodies, suppression of antibody production, or acceleration of catabolism of immunoglobulin G (IgG) are relevant in explaining the efficacy of IVIg in myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and antibody-mediated neuropathies. Suppression of pathogenic cytokines has putative relevance in inflammatory myopathies and demyelinating neuropathies. Inhibition of complement binding and prevention of membranolytic attack complex (MAC) formation are relevant in dermatomyositis (DM), Guillain-Barré syndrome (GBS), and MG. Modulation of Fc receptors or T-cell function is relevant in chronic inflammatory demyelinating polyneuropathy (CIDP), GBS, and inflammatory myopathies. The clinical efficacy of IVIg, based on controlled clinical trials conducted in patients with GBS, CIDP, multifocal motor neuropathy (MMN), DM, MG, LEMS, paraproteinemic IgM anti-myelin-associated glycoprotein (anti-MAG) demyelinating polyneuropathies, and inclusion body myositis is summarized and practical issues related to each disorder are addressed. The present role of IVIg therapy in other disorders based on small controlled or uncontrolled trials is also summarized. Finally, safety issues, risk factors, adverse reactions, spurious results or serological tests, and practical guidelines associated with the administration of IVIg in the treatment of neuromuscular disorders are presented.

  3. INFLUENCE OF ALLOFERIN ON NEUROMUSCULAR FUNCTION IN MYASTHENIA PATIENTS UNDERGOING THYMECTOMY

    Institute of Scientific and Technical Information of China (English)

    罗霞; 叶铁虎; 罗爱伦; 任洪智; 金永芳

    1994-01-01

    Myasthenia gravis patients are hypersensitive to nondepolarizing relaxants,such as alcuronium,an intermedi-ate-long nondepolarizing agent. This study observed the effects of alcuronium treatment in myasthenia gravis pa-tients as compared with non-MG patients during operation.Ten MG patients (Ossermann class Ⅰ-Ⅳ,scheduled for thymectomy)and 10non-MG patients(ASA class Ⅰ-Ⅱ,scheduled for operation)were selected.An induc-tion dose of alcuronium 0.2 mg/kg and thiopental 4-6 mg/kg was given,followed by intubation and ventilation with 50% nitrous oxide in oxygen and 0.5-1.5% ethrane.Neuromuscular transmission was monitored using an accelerogragh and degrees of neuromuscular function at different depths were recorded.There were statistically significant differences between the tow groups.The effect of alloferin in the MG group was quicker and deeper.This study also found a relation between MG class and the recovery of respiration: Respiratory recovery was quicker in classes Ⅰ-Ⅱ than in classes Ⅲ-Ⅳ.

  4. Do vasoactive neuropeptide autoimmune disorders explain pyridostigmine's association with Gulf War syndrome?

    Science.gov (United States)

    Staines, Donald

    2005-01-01

    myasthenia gravis (MG). While evidence associating these conditions is thin, vasoactive neuropeptide neurotransmitters of the VIP/PACAP family have acetylcholine co-transmission functions via specific GPCRs. Autoimmune reactions to these receptors may have parallels with muscarinic (e.g., Sjogren's syndrome) and nicotinic (e.g., MG) acetylcholine neurotransmission. Hence theoretically, treatment options such as thymectomy, corticosteroids, plasma exchange, anti-idiotype antibodies and receptor genomic expression reactivation/suppression may be considered. Paradoxically pyridostigmine may prove to have a role in therapy although VN treatment/replacement may be associated with tachyphylaxis.

  5. The Protective Role of HLA-DRB1(∗)13 in Autoimmune Diseases.

    Science.gov (United States)

    Bettencourt, Andreia; Carvalho, Cláudia; Leal, Bárbara; Brás, Sandra; Lopes, Dina; Martins da Silva, Ana; Santos, Ernestina; Torres, Tiago; Almeida, Isabel; Farinha, Fátima; Barbosa, Paulo; Marinho, António; Selores, Manuela; Correia, João; Vasconcelos, Carlos; Costa, Paulo P; da Silva, Berta Martins

    2015-01-01

    Autoimmune diseases (AIDs) are characterized by a multifactorial aetiology and a complex genetic background, with the MHC region playing a major role. We genotyped for HLA-DRB1 locus 1228 patients with AIDs-213 with Systemic Lupus Erythematosus (SLE), 166 with Psoriasis or Psoriatic Arthritis (Ps + PsA), 153 with Rheumatoid Arthritis (RA), 67 with Systemic Sclerosis (SSc), 536 with Multiple Sclerosis (MS), and 93 with Myasthenia Gravis (MG) and 282 unrelated controls. We confirmed previously established associations of HLA-DRB1(∗)15 (OR = 2.17) and HLA-DRB1(∗)03 (OR = 1.81) alleles with MS, HLA-DRB1(∗)03 with SLE (OR = 2.49), HLA-DRB1(∗)01 (OR = 1.79) and HLA-DRB1(∗)04 (OR = 2.81) with RA, HLA-DRB1(∗)07 with Ps + PsA (OR = 1.79), HLA-DRB1(∗)01 (OR = 2.28) and HLA-DRB1(∗)08 (OR = 3.01) with SSc, and HLA-DRB1(∗)03 with MG (OR = 2.98). We further observed a consistent negative association of HLA-DRB1(∗)13 allele with SLE, Ps + PsA, RA, and SSc (18.3%, 19.3%, 16.3%, and 11.9%, resp., versus 29.8% in controls). HLA-DRB1(∗)13 frequency in the AIDs group was 20.0% (OR = 0.58). Although different alleles were associated with particular AIDs, the same allele, HLA-DRB1(∗)13, was underrepresented in all of the six diseases analysed. This observation suggests that this allele may confer protection for AIDs, particularly for systemic and rheumatic disease. The protective effect of HLA-DRB1(∗)13 could be explained by a more proficient antigen presentation by these molecules, favouring efficient clonal deletion during thymic selection. PMID:26605347

  6. Genetics Home Reference: neuromyelitis optica

    Science.gov (United States)

    ... symptoms of another autoimmune disorder such as myasthenia gravis , systemic lupus erythematosus , or Sjögren syndrome . Some scientists ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  7. Thymectomy: Common Questions Patients Ask about Thymectomies

    Science.gov (United States)

    ... The following are some of the most common questions asked when a thymectomy is being considered for adult and younger patients with autoimmune myasthenia gravis (MG). The answers supplied below are presented in ...

  8. Muscle strength and fatigue in newly diagnosed patients with myasthenia gravis

    DEFF Research Database (Denmark)

    Vinge, Lotte; Andersen, Henning

    2016-01-01

    significantly with manual muscle testing (MG Composite). Dynamometry revealed improved muscle strength of up to 50% (median 17%, range -1.8 - 49.8) despite no change in the MG Composite score. DISCUSSION: Dynamometry appears to be a more sensitive method of identifying changes in limb strength than MG...

  9. [Validation of the ice pack test in ophthalmoparesis due to myasthenia gravis].

    Science.gov (United States)

    Ramirez-Antunez, Ángel G; García-Ramos, Guillermo; Estañol-Vidal, Bruno; Juárez-Flores, Alejandra

    2013-11-01

    Introduccion. La miastenia grave es una enfermedad autoinmune de la union neuromuscular que se presenta clinicamente como debilidad fluctuante de los musculos estriados, como los de la region ocular (miastenia ocular). Objetivo. Demostrar que la sensibilidad y la especificidad de la prueba de hielo son altas en el diagnostico diferencial de la oftalmoparesia y ptosis palpebral por miastenia grave y miastenia ocular. Sujetos y metodos. Estudio observacional, analitico, no aleatorizado, de una muestra de 43 sujetos, 21 con miastenia grave y 22 controles. A todos los pacientes se les aplico un guante con hielo sobre sus parpados superiores afectados durante dos minutos, despues de los cuales se evaluo el grado de mejoria de la ptosis palpebral y la oftalmoparesia. Todos tenian estudio de estimulacion nerviosa repetitiva. Resultados. Se analizaron 36 pacientes, 18 con miastenia grave u ocular y 18 controles. Todos presentaron ptosis palpebral y solo 20 de ellos oftalmoparesia. La prueba de hielo para la oftalmoparesia mostro una sensibilidad del 83%, especificidad del 100%, valor predictivo positivo (VPP) del 100% y valor predictivo negativo (VPN) del 80% en el diagnostico de la miastenia grave. Para la ptosis palpebral, se determino una sensibilidad del 89%, especificidad del 100%, VPP del 100% y VPN del 90%. Para la estimulacion nerviosa repetitiva se calculo una sensibilidad del 61%, especificidad del 83%, VPP del 79% y VPN del 68%. Conclusion. La prueba de hielo es sencilla, segura, economica, rapida y fiable para utilizarse de rutina en pacientes con sospecha de ptosis u oftalmoparesia por miastenia grave, ya que tiene una alta validez, seguridad y reproducibilidad como prueba diagnostica.

  10. Cognitive impairment as a central cholinergic deficit in patients with Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    Antonia Kaltsatou

    2015-06-01

    Conclusions: VCmax and ACmax are governed mainly by the action of the Parasympathetic Nervous System, through acetylcholine. The results of this study demonstrate that the CNS may be affected in MG and support the hypothesis that MG has central cholinergic effects manifested by cognitive dysfunction.

  11. Status of the thymectomy trial for nonthymomatous myasthenia gravis patients receiving prednisone.

    Science.gov (United States)

    Newsom-Davis, John; Cutter, Gary; Wolfe, Gil I; Kaminski, Henry J; Jaretzki, Alfred; Minisman, Greg; Aban, Inmaculada; Conwit, Robin

    2008-01-01

    The primary study [MGTX] aims to answer three questions: does extended transsternal thymectomy combined with the prednisone protocol, when compared with the prednisone protocol alone: (1) result in a greater improvement in myasthenic weakness, (2) result in a lower total dose of prednisone, thus decreasing the likelihood of concurrent and long-term toxic effects, (3) enhance the quality of life by reducing adverse events and symptoms associated with the therapies? Inclusion criteria are MGFA Class 2, 3, or 4; acetylcholine receptor antibody positive; age at least 18.0 years and <60.0 years; MG history of <3 years. Patients can be prednisone naïve or not. The National Institute for Neurological Disorders and Stroke awarded funding for MGTX in September 2005, and NIH awarded funding for the ancillary Biomarkers study (BioMG) in February 2006. Diverse regulatory obstacles have been encountered in this international study, but we now have a total of over 70 centers in 22 countries (North America, South America, Europe, Australasia, South Africa) either actively recruiting or at various levels of readiness. PMID:18567886

  12. Autoimmune hepatitis

    Science.gov (United States)

    ... Sjogren syndrome Systemic lupus erythematosus Thyroiditis Type 1 diabetes Ulcerative colitis Autoimmune hepatitis may occur in family members of people with autoimmune diseases. There may be a genetic cause. This disease is most common in young girls ...

  13. Autoimmune epilepsy.

    Science.gov (United States)

    Greco, Antonio; Rizzo, Maria Ida; De Virgilio, Armando; Conte, Michela; Gallo, Andrea; Attanasio, Giuseppe; Ruoppolo, Giovanni; de Vincentiis, Marco

    2016-03-01

    Despite the fact that epilepsy is the third most common chronic brain disorder, relatively little is known about the processes leading to the generation of seizures. Accumulating data support an autoimmune basis in patients with antiepileptic drug-resistant seizures. Besides, recent studies show that epilepsy and autoimmune disease frequently co-occur. Autoimmune epilepsy is increasingly recognized in the spectrum of neurological disorders characterized by detection of neural autoantibodies in serum or spinal fluid and responsiveness to immunotherapy. An autoimmune cause is suspected based on frequent or medically intractable seizures and the presence of at least one neural antibody, inflammatory changes indicated in serum or spinal fluid or on MRI, or a personal or family history of autoimmunity. It is essential that an autoimmune etiology be considered in the initial differential diagnosis of new onset epilepsy, because early immunotherapy assures an optimal outcome for the patient. PMID:26626229

  14. [Autoimmune hepatitis].

    Science.gov (United States)

    Ostojić, Rajko

    2003-01-01

    Autoimmune hepatitis is an unresolving, hepatocellular inflammation of unknown cause that is characterized by the presence of periportal hepatitis on histologic examination, tissue autoantibodies in serum, and hypergammaglobulinemia. By international consensus, the designation autoimmune hepatitis has replaced alternative terms for the condition. Three types of autoimmune hepatitis have been proposed based on immunoserologic findings. Type 1 autoimmune hepatitis is characterized by the presence of antinuclear antibodies (ANA) or smooth muscle antibodies (SMA) (or both) in serum. Seventy percent of patients with type 1 of autoimmune hepatitis are women. This type is the most common form and accounts for at least 80% of cases. Type 2 is characterized by the presence of antibodies to liver-kidney microsome type 1 (anti-LKM1) in serum. Patients with this type of autoimmune hepatitis are predominantly children. Type 3 autoimmune hepatitis is characterized by the presence of antibodies to soluble liver antigen (anti-SLA) in serum. There are no individual features that are pathognomonic of autoimmune hepatitis, and its diagnosis requires the confident exclusion of other conditions. The large majority of patients show satisfactory response to corticosteroid (usually prednisone or prednisolone) therapy. For the past 30 years it has been customary to add azathioprine as a "steroid sparing" agent to allow lower doses of steroids to be used and remission, once achieved, can be sustained in many patients with azathioprine alone after steroid withdrawal. Patients with autoimmune hepatitis who have decompensated during or after corticosteroid therapy are candidates for liver transplantation.

  15. Identification and characterization of a new multigene family in the human MHC: A candidate autoimmune disease susceptibility element (3.8-1)

    Energy Technology Data Exchange (ETDEWEB)

    Harris, J.M.; Venditti, C.P.; Chorney, M.J. [Pennsylvania State Univ. College of Medicine, Hershey, PA (United States)

    1994-09-01

    An association between idiopathic hemochromatosis (HFE) and the HLA-A3 locus has been previously well-established. In an attempt to identify potential HFE candidate genes, a genomic DNA fragment distal to the HLA-A9 breakpoint was used to screen a B cell cDNA library; a member (3.8-1) of a new multigene family, composed of five distinct genomic cross-reactive fragments, was identified. Clone 3.8-1 represents the 3{prime} end of 9.6 kb transcript which is expressed in multiple tissues including the spleen, thymus, lung and kidney. Sequencing and genome database analysis indicate that 3.8-1 is unique, with no homology to any known entries. The genomic residence of 3-8.1, defined by polymorphism analysis and physical mapping using YAC clones, appears to be absent from the genomes of higher primates, although four other cross-reactivities are maintained. The absence of this gene as well as other probes which map in the TNF to HLA-B interval, suggest that this portion of the human HMC, located between the Class I and Class III regions, arose in humans as the result of a post-speciation insertional event. The large size of the 3.8-1 gene and the possible categorization of 3.8-1 as a human-specific gene are significant given the genetic data that place an autoimmune susceptibility element for IDDM and myasthenia gravis in the precise region where this gene resides. In an attempt to isolate the 5{prime} end of this large transcript, we have constructed a cosmid contig which encompasses the genomic locus of this gene and are progressively isolating coding sequences by exon trapping.

  16. Intravenous Immunoglobulin Treatment in the Management of Myasthenic Crisis: Case Report

    OpenAIRE

    Akgun Salman

    2013-01-01

     Myasthenia gravis is an autoimmune disease affecting primarily postsynaptic junction. It is characterized by the weakness and fatiguability of voluntary muscles. Acute exacerbations may be life-threatenning because of respiratory failure or swallowing difficulties. A 24 year old male patient who had weakness and tiredness for about 4-5 months, was admitted to the intensive care with respiratory failure and difficulty in swallowing. Myasthenia gravis was diagnosed with future investig...

  17. Familial Risk of Sjögren's Syndrome and Co‐aggregation of Autoimmune Diseases in Affected Families: A Nationwide Population Study

    Science.gov (United States)

    Kuo, Chang‐Fu; Grainge, Matthew J.; Valdes, Ana M.; See, Lai‐Chu; Luo, Shue‐Fen; Zhang, Weiya; Doherty, Michael

    2015-01-01

    Objective To investigate familial aggregation of Sjögren's syndrome (SS) and the relative risks (RRs) of other autoimmune disease in relatives of patients with SS. Methods We identified 23,658,577 beneficiaries enrolled in the Taiwan National Health Insurance system in 2010, of whom 12,754 had SS. We identified 21,009,551 parent–child relationships and 17,168,340 pairs of full siblings. The familial risks of SS and other autoimmune diseases, tetrachoric correlation, and familial transmission were estimated. Results We identified 105 patients with SS who had an affected first‐degree relative. The RR of SS was 18.99 (95% confidence interval [95% CI] 9.76–36.93) in siblings of patients with SS, 11.31 (95% CI 8.34–15.33) in offspring, and 12.46 (95% CI 9.34–16.62) in parents. Tetrachoric correlation coefficients were 0.53 (95% CI 0.41–0.65) for cotwins of affected individuals and 0.21 (95% CI 0.16–0.26) for full siblings. The familial transmission (heritability plus shared environmental contribution) was 0.54 (95% CI 0.44–0.77). In first‐degree relatives of patients with SS, the RRs were 2.95 (95% CI 2.33–3.73) for rheumatoid arthritis, 6.25 (95% CI 5.15–7.58) for systemic lupus erythematosus, 2.39 (95% CI 0.77–7.41) for systemic sclerosis, 0.71 (95% CI 0.10–5.07) for idiopathic inflammatory myopathy, 1.97 (95% CI 1.29–3.02) for type 1 diabetes mellitus, 3.38 (95% CI 1.26–9.05) for multiple sclerosis, 1.67 (95% CI 0.83–3.33) for myasthenia gravis, 1.25 (95% CI 1.04–1.50) for psoriasis, 1.21 (95% CI 0.39–3.76) for inflammatory bowel disease, and 2.29 (95% CI 1.19–4.40) for vasculitis. Conclusion The risk of SS and other autoimmune diseases is increased in relatives of patients with SS, and more than one‐half of phenotypic variance in SS can be explained by familial factors. PMID:25940005

  18. Autoimmune Diseases

    Science.gov (United States)

    ... Some examples of CAM are herbal products, chiropractic , acupuncture , and hypnosis . If you have an autoimmune disease, ... Toll-Free: 877-226-4267 National Institute of Diabetes and Digestive and Kidney Diseases, NIH, HHS Phone: ...

  19. Autoimmune disease

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    2005164 Optimal cut-point of glutamic acid decar-boxylase antibody (GAD-Ab) for differentiating two subtypes of latent autoimmune diabetes in adults (LADA). LI Xia(李霞), et al. Dept Endocrinol, 2nd Xiangya Hosp, Central South Univ, Changsha, 410011. Chin J Diabetes, 2005;13(1) :34-38. Objective: To investigate the optimal cut-point of glutamate decarboxylase antibody (GAD-Ab) for differentiating two subtypes of latent autoimmune diabetes in adults (I. ADA). Methods: The frequency

  20. Autoimmune synaptopathies.

    Science.gov (United States)

    Crisp, Sarah J; Kullmann, Dimitri M; Vincent, Angela

    2016-02-01

    Autoantibodies targeting proteins at the neuromuscular junction are known to cause several distinct myasthenic syndromes. Recently, autoantibodies targeting neurotransmitter receptors and associated proteins have also emerged as a cause of severe, but potentially treatable, diseases of the CNS. Here, we review the clinical evidence as well as in vitro and in vivo experimental evidence that autoantibodies account for myasthenic syndromes and autoimmune disorders of the CNS by disrupting the functional or structural integrity of synapses. Studying neurological and psychiatric diseases of autoimmune origin may provide new insights into the cellular and circuit mechanisms underlying a broad range of CNS disorders. PMID:26806629

  1. Autoimmun pankreatitis

    DEFF Research Database (Denmark)

    Fjordside, Eva; Novovic, Srdan; Schmidt, Palle Nordblad;

    2015-01-01

    Autoimmune pancreatitis (AIP) is a rare inflammatory disease. AIP has characteristic histology, serology and imaging findings. Two types of AIP exist, type 1, which is a part of the systemic immunoglobulin G4-related disease, and type 2, which is only localized to the pancreas. Patients with type 1...

  2. Autoimmun hypophysitis

    DEFF Research Database (Denmark)

    Krarup, Therese; Hagen, Claus

    2010-01-01

    during pregnancy or postpartum, but also occurs in males and children. AH is often associated with other autoimmune diseases, most frequently with Hashimoto's thyroiditis. The symptoms are caused by enlargement of the pituitary gland and disturbances of the hormone function. Treatment is either...

  3. Autosomal recessive limb girdle myasthenia in two sisters.

    Directory of Open Access Journals (Sweden)

    Shankar A

    2002-10-01

    Full Text Available Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sisters affected by this disorder is presented.

  4. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis

    OpenAIRE

    Ohno, Kinji; Ito, Mikako; Kawakami, Yu; Krejci, Eric; Engel, Andrew G.

    2012-01-01

    Acetylcholinesterase (AChE) at the neuromuscular junction (NMJ) is anchored to the synaptic basal lamina via a triple helical collagen Q (ColQ) in the form of asymmetric AChE (AChE/ColQ). The C-terminal domain of ColQ binds to MuSK, the muscle-specific receptor tyrosine kinase, that mediates a signal for acetylcholine receptor (AChR) clustering at the NMJ. ColQ also binds to heparan sulfate proteoglycans including perlecan.

  5. The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profile.

    Science.gov (United States)

    Dalakas, Marinos C

    2004-06-01

    Intravenous immunoglobulin (i.v.Ig) has multiple actions on the immunoregulatory network that operate in concert with each other. For each autoimmune neuromuscular disease, however, there is a predominant mechanism of action that relates to the underlying immunopathogenetic cause of the respective disorder. The best understood actions of i.v.Ig include the following: (a) modulation of pathogenic autoantibodies, an effect relevant in myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), and stiff-person syndrome (SPS); (b) inhibition of complement activation and interception of membranolytic attack complex (MAC) formation, an action relevant to the complement-mediated mechanisms involved in GBS, CIDP, MG, and dermatomyositis (DM); (c) modulation of the inhibitory or activation Fc receptors on macrophages invading targeted tissues in nerve and muscle, as seen in CIDP, GBS, and inflammatory myopathies; (d) down-regulation of pathogenic cytokines and adhesion molecules; (e) suppression of T-cell functions; and (f) interference with antigen recognition. Controlled clinical trials have shown that i.v.Ig is effective as first-line therapy in patients with GBS, CIDP, and multifocal motor neuropathy (MMN), and as second-line therapy in DM, MG, LEMS, and SPS. In paraproteinemic IgM anti-MAG (myelin-associated glycoprotein) demyelinating polyneuropathies and inclusion body myositis (IBM), the benefit is variable, marginal, and not statistically significant. i.v.Ig has a remarkably good safety record for long-term administration, however, the following side effects have been observed: mild, infusion-rate-related reactions, such as headaches, myalgia, or fever; moderate but inconsequential events, such as aseptic meningitis and skin rash; and severe, but rare, complications, such as thromboembolic events and renal tubular necrosis. Future studies are needed to (a) find the

  6. Autoimmune Encephalitis

    OpenAIRE

    Leypoldt, Frank; Wandinger, Klaus-Peter; Bien, Christian G; Dalmau, Josep

    2013-01-01

    The term autoimmune encephalitis is used to describe a group of disorders characterised by symptoms of limbic and extra-limbic dysfunction occurring in association with antibodies against synaptic antigens and proteins localised on the neuronal cell surface. In recent years there has been a rapidly expanding knowledge of these syndromes resulting in a shift in clinical paradigms and new insights into pathogenic mechanisms. Since many patients respond well to immunosuppressive treatment, the r...

  7. Autoimmun pankreatitis

    DEFF Research Database (Denmark)

    Fjordside, Eva; Novovic, Srdan; Schmidt, Palle Nordblad;

    2015-01-01

    Autoimmune pancreatitis (AIP) is a rare inflammatory disease. AIP has characteristic histology, serology and imaging findings. Two types of AIP exist, type 1, which is a part of the systemic immunoglobulin G4-related disease, and type 2, which is only localized to the pancreas. Patients with type 1...... are predominantly older men, have involvement of other organs and more often experience relapse than patients with type 2. Both types respond well to steroid treatment. The most important differential diagnose is pancreatic cancer....

  8. Autoimmune Epilepsy

    Science.gov (United States)

    Quek, Amy M. L.; Britton, Jeffrey W.; McKeon, Andrew; So, Elson; Lennon, Vanda A.; Shin, Cheolsu; Klein, Christopher J.; Watson, Robert E.; Kotsenas, Amy L.; Lagerlund, Terrence D.; Cascino, Gregory D.; Worrell, Gregory A.; Wirrell, Elaine C.; Nickels, Katherine C.; Aksamit, Allen J.; Noe, Katherine H.; Pittock, Sean J.

    2013-01-01

    Objective To describe clinical characteristics and immunotherapy responses in patients with autoimmune epilepsy. Design Observational, retrospective case series. Setting Mayo Clinic Health System. Patients Thirty-two patients with an exclusive (n=11) or predominant (n = 21) seizure presentation in whom an autoimmune etiology was suspected (on the basis of neural autoantibody [91%], inflammatory cerebrospinal fluid [31%], or magnetic resonance imaging suggesting inflammation [63%]) were studied. All had partial seizures: 81% had failed treatment with 2 or more anti-epileptic drugs and had daily seizures and 38% had seizure semiologies that were multifocal or changed with time. Head magnetic resonance imaging was normal in 15 (47%) at onset. Electroencephalogram abnormalities included interictal epileptiform discharges in 20; electrographic seizures in 15; and focal slowing in 13. Neural autoantibodies included voltage-gated potassium channel complex in 56% (leucine-rich, glioma-inactivated 1 specific, 14; contactin-associated proteinlike 2 specific, 1); glutamic acid decarboxylase 65 in 22%; collapsin response-mediator protein 5 in 6%; and Ma2, N-methyl-D-aspartate receptor, and ganglionic acetylcholine receptor in 1 patient each. Intervention Immunotherapy with intravenous methylprednisolone; intravenous immune globulin; and combinations of intravenous methylprednisolone, intravenous immune globulin, plasmapheresis, or cyclo-phosphamide. Main Outcome Measure Seizure frequency. Results After a median interval of 17 months (range, 3–72 months), 22 of 27 (81%) reported improvement postimmunotherapy; 18 were seizure free. The median time from seizure onset to initiating immunotherapy was 4 months for responders and 22 months for nonresponders (P<.05). All voltage-gated potassium channel complex antibody–positive patients reported initial or lasting benefit (P<.05). One voltage-gated potassium channel complex antibody–positive patient was seizure free after

  9. [Autoimmune epilepsy].

    Science.gov (United States)

    Seeck, M; Zacharia, A; Rossetti, A O

    2010-05-01

    There is increasing recognition of an autoimmune origin of pharmacoresistant epileptic disorders. Besides the paraneoplastic limbic encephalopathies (LE), reports of syndromes of non-paraneoplastic LE are increasingly reported in the last 5-10 years. Three antibodies are now relatively well described: Voltage-gated potassium channels (VGKC), glutamic acid decarboxylase (GAD) and N-methyl-D-aspartate receptor-(NMDA) antibodies. We review clinical syndromes, associated imaging and laboratory findings. While most reports arise from adult populations, children and adolescents are also concerned as evidenced by increasing observations. Early recognition is mandatory, since early immunomodulatory treatment appears to be related to significantly better outcome. PMID:20499581

  10. Update in Endocrine Autoimmunity

    OpenAIRE

    Anderson, Mark S.

    2008-01-01

    Context: The endocrine system is a common target in pathogenic autoimmune responses, and there has been recent progress in our understanding, diagnosis, and treatment of autoimmune endocrine diseases.

  11. Oral Tolerance: Therapeutic Implications for Autoimmune Diseases

    Directory of Open Access Journals (Sweden)

    Ana M. C. Faria

    2006-01-01

    Full Text Available Oral tolerance is classically defined as the suppression of immune responses to antigens (Ag that have been administered previously by the oral route. Multiple mechanisms of tolerance are induced by oral Ag. Low doses favor active suppression, whereas higher doses favor clonal anergy/deletion. Oral Ag induces Th2 (IL-4/IL-10 and Th3 (TGF-β regulatory T cells (Tregs plus CD4+CD25+ regulatory cells and LAP+T cells. Induction of oral tolerance is enhanced by IL-4, IL-10, anti-IL-12, TGF-β, cholera toxin B subunit (CTB, Flt-3 ligand, anti-CD40 ligand and continuous feeding of Ag. In addition to oral tolerance, nasal tolerance has also been shown to be effective in suppressing inflammatory conditions with the advantage of a lower dose requirement. Oral and nasal tolerance suppress several animal models of autoimmune diseases including experimental allergic encephalomyelitis (EAE, uveitis, thyroiditis, myasthenia, arthritis and diabetes in the nonobese diabetic (NOD mouse, plus non-autoimmune diseases such as asthma, atherosclerosis, colitis and stroke. Oral tolerance has been tested in human autoimmune diseases including MS, arthritis, uveitis and diabetes and in allergy, contact sensitivity to DNCB, nickel allergy. Positive results have been observed in phase II trials and new trials for arthritis, MS and diabetes are underway. Mucosal tolerance is an attractive approach for treatment of autoimmune and inflammatory diseases because of lack of toxicity, ease of administration over time and Ag-specific mechanism of action. The successful application of oral tolerance for the treatment of human diseases will depend on dose, developing immune markers to assess immunologic effects, route (nasal versus oral, formulation, mucosal adjuvants, combination therapy and early therapy.

  12. Autoimmune pancreatitis

    DEFF Research Database (Denmark)

    Detlefsen, Sönke; Drewes, Asbjørn M

    2009-01-01

    bile duct. Obstructive jaundice is a common symptom at presentation, and pancreatic cancer represents an important clinical differential diagnosis. In late stages of the disease, the normal pancreatic parenchyma is often replaced by large amounts of fibrosis. Histologically, there seem to be two...... AIP responds to steroid treatment, also a trial with steroids, can help to differentiate AIP from pancreatic cancer. OUTLOOK AND DISCUSSION: This review presents the pathological, radiologic and laboratory findings of AIP. Moreover, the treatment and pathogenesis are discussed.......BACKGROUND: Autoimmune pancreatitis (AIP) is a relatively newly recognized type of pancreatitis that is characterized by diffuse or focal swelling of the pancreas due to lymphoplasmacytic infiltration and fibrosis of the pancreatic parenchyma. MATERIAL AND METHODS: A PubMed literature search was...

  13. The autoimmune tautology

    OpenAIRE

    Anaya, Juan-Manuel

    2010-01-01

    Although autoimmune diseases exhibit contrasting epidemiological features, pathology, and clinical manifestations, three lines of evidence demonstrate that these diseases share similar immunogenetic mechanisms (that is, autoimmune tautology). First, clinical evidence highlights the co-occurrence of distinct autoimmune diseases within an individual (that is, polyautoimmunity) and within members of a nuclear family (that is, familial autoimmunity). Second, physiopathologic evidence indicates th...

  14. INTEGRATED METHODOLOGY OF I.I. MECHNIKOV AND MODERN ADDRESS IMMUNOCORRECTION AT MYASTHENIA

    Directory of Open Access Journals (Sweden)

    Klimova E.M.

    2015-05-01

    neutrophils and completeness of phagocytosis has revealed various degree of disturbances of barrier function of phagocyte cells, and also change of the titer and frequencies of occurrence of herpes viruses CMV and VEB at various clinical phenotypes of myasthenia. Conclusion. It is shown, that degree of expression and frequency of occurrence of persistence of cytomegalovirus and Epstein-Barra virus are interconnected with defects of various stages of phagocytosis, its completeness and activity of the intracellular enzymes which participate in formation of active forms of oxygen, and intensity of formation of monomers of DNA of the microorganisms which are grasped by phagocytes. Disturbance of barrier function of immunity at myasthenia is significant for a debut and disease advance. An estimation of phagocytosis and virus persistence, as trigger factor of myasthenia, is important for a choice of target therapy. Use of evolutionary scientific methodology of I.I. Mechnikov in the synthetic approach for diagnostics of trigger factors and monitoring of stage of formations of pathological process allows to prove individual medical-diagnostic algorithm for correction of various clinical forms of autoimmune diseases. The approaches for address therapy are proved at various clinical phenotypes of myasthenia which includes carrying out of staged monoligand therapy by peptides and enzymes. This therapy referred on activation of intracellular enzymes of neutrophils at incompleteness of phagocytosis, and application of the immunoglobulins which are specific to herpes viruses.

  15. Miastenia gravis familiar: registro de dois irmãos

    Directory of Open Access Journals (Sweden)

    Marcos R. G. de Freitas

    1985-03-01

    Full Text Available A forma familiar da miastenia gravis é condição relativamente rara, ocorrendo em cerca de 3,4% dos pacientes miastênicos. Os autores registram os casos de dois irmãos não-gêmeos, apresentando miastenia gravis com acometimento predominantemente ocular desde o nascimento. Um terceiro irmão faleceu na infância, provavelmente com a mesma afecção. Os pais eram consanguíneos. Estudo da incidência da forma familiar da miastenia e de seus aspectos clínicos, genéticos e terapêuticos complementa os registros.

  16. Tratamiento inmunosupresor de la miastenia gravis con tacrolimus (FK506)

    OpenAIRE

    Abderrazek, Jamal Azem

    2006-01-01

    La miastenia gravis es una enfermedad autoinmune mediada por anticuerpos anti-receptor de acetilcolina del músculo esquelético. Su tratamiento incluye: La timectomia y la inmunosupresión con los corticoides, la azatioprina y la ciclosporina. Estos inmunosupresores son efectivos, pero el manejo de los pacientes con miastenia gravis generalizada refractaria y con efectos adversos secundarios al tratamiento prolongado con corticoides continúa sin solución. Tacrolimus (FK506) es un macrólido pare...

  17. The autoimmune tautology.

    Science.gov (United States)

    Anaya, Juan-Manuel

    2010-01-01

    Although autoimmune diseases exhibit contrasting epidemiological features, pathology, and clinical manifestations, three lines of evidence demonstrate that these diseases share similar immunogenetic mechanisms (that is, autoimmune tautology). First, clinical evidence highlights the co-occurrence of distinct autoimmune diseases within an individual (that is, polyautoimmunity) and within members of a nuclear family (that is, familial autoimmunity). Second, physiopathologic evidence indicates that the pathologic mechanisms may be similar among autoimmune diseases. Lastly, genetic evidence shows that autoimmune phenotypes might represent pleiotropic outcomes of the interaction of non-specific disease genes.

  18. Questions and Answers on Autoimmunity and Autoimmune Diseases

    Science.gov (United States)

    ... dermatomyositis . What are some of the treatments for autoimmune diseases? Of first importance in treating any autoimmune disease ... being researched. What is the family connection in autoimmune diseases? The ability to develop an autoimmune disease is ...

  19. Autoimmune Autonomic Ganglionopathy

    Science.gov (United States)

    ... Accessed 9/2/2015. Autoimmune Autonomic Ganglionopathy Summary. Dysautonomia International . http://www.dysautonomiainternational.org/page.php?ID= ... page Basic Information In Depth Information Basic Information Dysautonomia International offers an information page on Autoimmune autonomic ...

  20. [Atopy and autoimmunity -- a case report].

    Science.gov (United States)

    Alfaro, M; Tapadinhas, F; Neves, Am; Costa Trindade, J

    2007-01-01

    Atopy, immunodeficiency and autoimmunity are manifestations of immune system dysfunction. Classically atopy and autoimmunity are referred as distinct immunological reactions. Recent studies suggest the existence of common pathogenic mechanisms. We report the case of a teenager with familial history of asthma and miasthenia gravis in her mother (HLA- B8+) and personal history of recurrent upper respiratory infections from two to four years old, and pneumonia since five years old (3 or 4 episodes/ year, in three consecutive years), with associated dyspnoea and hypoxemia, requiring frequently hospital admission. Investigation was initially negative for atopy markers, and excluded other hypothesis as tuberculosis, cystic fibrosis, -1 antitrypsin deficiency, congenital heart disease, bronchopulmonary malformations or foreign body aspiration. Latter, further exams finally confirmed atopy with a raised IgE, positive RAST and cutaneous sensitivity tests (for house dust mites and pollen) and revealed circulating immune complexes and IgG 2, 3 e 4 deficit. Most frequent autoantibodies and precipitins study were negative, and histocompatibility antigens study revealed HLA- B8 (as her mother). Ventilation-perfusion scintigraphy and respiratory function tests were normal. Antihistamines, topical corticoids and bronchodilators were done with an excellent clinical response. At 16 years- old she is admitted again with the diagnosis of erythema nodosum and the clinical suspicion of Sweet's syndrome, having a good evolution. The relation between atopy and autoimmunity is enfatized by the authors. This simultaneous occurrence does not correspond merely to a statistical association, but may represent a global immune system impairment, with the involvement of different types of hypersensibility. PMID:17962891

  1. Perspectives on autoimmunity

    Energy Technology Data Exchange (ETDEWEB)

    Cohen, I.R.

    1987-01-01

    The contents of this book are: HLA and Autoimmunity; Self-Recognition and Symmetry in the Immune System; Immunology of Insulin Dependent Diabetes Mellitus; Multiple Sclerosis; Autoimmunity and Immune Pathological Aspects of Virus Disease; Analyses of the Idiotypes and Ligand Binding Characteristics of Human Monoclonal Autoantibodies to DNA: Do We Understand Better Systemic Lupus Erythematosus. Autoimmunity and Rheumatic Fever; Autoimmune Arthritis Induced by Immunization to Mycobacterial Antigens; and The Interaction Between Genetic Factors and Micro-Organisms in Ankylosing Spondylitis: Facts and Fiction.

  2. Disorders of the neuromuscular junction

    NARCIS (Netherlands)

    Kuks, JBM; de Baets, MH

    2000-01-01

    Acquired myasthenic syndromes are mostly autoimmune diseases with antibodies directed to ion channels of the presynaptic (Lambert Eaten Myasthenic Syndrome) or postsynaptic (Myasthenia Gravis) membrane. Although both of these syndromes can be treated rather effectively there is still a need for find

  3. Neurophysiological Strategies for the Diagnosis of Disorders of the Neuromuscular Junction in Children

    Science.gov (United States)

    Pitt, Matthew

    2008-01-01

    The disorders of the neuromuscular junction seen in children, the congenital myasthenic syndromes and autoimmune myasthenia gravis, are very rare. Their clinical symptoms and signs may be variable, most notably in the neonate and infant. They should enter the differential diagnosis of many different clinical presentations, such as "floppy infant"…

  4. Sirolimus for Autoimmune Disease of Blood Cells

    Science.gov (United States)

    2016-04-22

    Autoimmune Pancytopenia; Autoimmune Lymphoproliferative Syndrome (ALPS); Evans Syndrome; Idiopathic Thrombocytopenic Purpura; Anemia, Hemolytic, Autoimmune; Autoimmune Neutropenia; Lupus Erythematosus, Systemic; Inflammatory Bowel Disease; Rheumatoid Arthritis

  5. Autoimmune pancreatitis: A review

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Autoimmune pancreatitis has emerged over the last 40 years from a proposed concept to a well established and recognized entity. As an efficient mimicker of pancreatic carcinoma, its early and appropriate recognition are crucial. With mounting understanding of its pathogenesis and natural history, significant advances have been made in the diagnosis of autoimmune pancreatitis. The characteristic laboratory features and imaging seen in autoimmune pancreatitis are reviewed along with some of the proposed diagnostic criteria and treatment algorithms.

  6. American Autoimmune Related Diseases Association

    Science.gov (United States)

    ... Its 25th Anniversary With #25FOR25 Campaign During National Autoimmune Disease Awareness Month AARDA officially kicks of National Autoimmune ... will benefit AARDA. Click here to read more. Autoimmune Disease Awareness Month AARDA and the NCAPG held two ...

  7. Timectomía por miastenia gravis en el Hospital Dr. Rafael Angel Calderón Guardia: Reporte de 24 casos

    Directory of Open Access Journals (Sweden)

    José A Mainieri Hidalgo

    2000-06-01

    Full Text Available Antecedentes: La miastenia gravis es una enfermedad autoinmune cuya etiología aún no está claramente definida. Desde 1912 se describió mejoría del cuadro posterior a timectomía. Este procedimiento es actualmente una de las formas aceptadas para su tratamiento. El objetivo del presente trabajo fue estudiar los resultados de la timectomía para el tratamiento de la miastenia gravis en el Hospital Rafael Angel Calderón Guardia. Materiales y Métodos: Estudio retrospectivo, basado en la revisión de los expedientes de 24 pacientes, a quienes se les realizó timectomía como parte de su tratamiento de miastenia gravis entre enero de 1992 y mayo de 1999, en el Hospital Dr. Rafael Angel Calderón Guardia. Resultados: Se encontró que un 75% de los pacientes presentaron una franca mejoría, 17% permaneció en igual condición y un 8% empeoró. No se observó diferencia en la evolución por sexo, edad o la presencia de timoma, sin embargo en los pacientes que presentaban únicamente síntomas oculares se dio una tendencia a persistir sintomáticos. Se observó que la preparación pre-operatoria del paciente con gamaglobulina y la modernización de la técnica anestésica disminuyó notablemente la necesidad de ventilación mecánica. Conclusión: La timectomía fue útil en el tratamiento del 75% de los pacientes, especialmente aquellos con no sólo ptosis palpebral y permitió disminuir la dosis de medicamentos en 12 de los 24 casos estudiados.Background: Miastenia gravis is an autoimmune disease, its etiology has not been defined clearly. The improvement of the clinical manifestations after thymectomy was first describes in 1912; and this procedure has become in one of the therapeutic alternativas for the disease nowadays. The aim of the present study was to investigase the results of thymectomy for miastenia gravis in the Hospital Dr. R. A. Calderón Guardia. Materials and Methods: Retrospective study, based in the revision of the clinical

  8. THE AUTOIMMUNE ECOLOGY.

    Directory of Open Access Journals (Sweden)

    Juan-Manuel eAnaya

    2016-04-01

    Full Text Available Autoimmune diseases (ADs represent a heterogeneous group of disorders that affect specific target organs or multiple organ systems. These conditions share common immunopathogenic mechanisms (i.e., the autoimmune tautology, which explain the clinical similarities they have among them as well as their familial clustering (i.e., coaggregation. As part of the autoimmune tautology, the influence of environmental exposure on the risk of developing ADs is paramount (i.e., the autoimmune ecology. In fact, environment, more than genetics, shapes immune system. Autoimmune ecology is akin to exposome, that is all the exposures - internal and external - across the lifespan, interacting with hereditary factors (both genetics and epigenetics to favor or protect against autoimmunity and its outcomes. Herein we provide an overview of the autoimmune ecology, focusing on the immune response to environmental agents in general, and microbiota, cigarette smoking, alcohol and coffee consumption, socioeconomic status, gender and sex hormones, vitamin D, organic solvents and vaccines in particular. Inclusion of the autoimmune ecology in disease etiology and health will improve the way personalized medicine is currently conceived and applied.

  9. Bistability in autoimmune diseases

    DEFF Research Database (Denmark)

    Rapin, Nicolas; Mosekilde, Erik; Lund, Ole

    2011-01-01

    Autoimmune diseases damage host tissue, which, in turn, may trigger a stronger immune response. Systems characterized by such positive feedback loops can display co-existing stable steady states. In a mathematical model of autoimmune disease, one steady state may correspond to the healthy state...

  10. The Autoimmune Ecology.

    Science.gov (United States)

    Anaya, Juan-Manuel; Ramirez-Santana, Carolina; Alzate, Maria A; Molano-Gonzalez, Nicolas; Rojas-Villarraga, Adriana

    2016-01-01

    Autoimmune diseases (ADs) represent a heterogeneous group of disorders that affect specific target organs or multiple organ systems. These conditions share common immunopathogenic mechanisms (i.e., the autoimmune tautology), which explain the clinical similarities they have among them as well as their familial clustering (i.e., coaggregation). As part of the autoimmune tautology, the influence of environmental exposure on the risk of developing ADs is paramount (i.e., the autoimmune ecology). In fact, environment, more than genetics, shapes immune system. Autoimmune ecology is akin to exposome, that is all the exposures - internal and external - across the lifespan, interacting with hereditary factors (both genetics and epigenetics) to favor or protect against autoimmunity and its outcomes. Herein, we provide an overview of the autoimmune ecology, focusing on the immune response to environmental agents in general, and microbiota, cigarette smoking, alcohol and coffee consumption, socioeconomic status (SES), gender and sex hormones, vitamin D, organic solvents, and vaccines in particular. Inclusion of the autoimmune ecology in disease etiology and health will improve the way personalized medicine is currently conceived and applied.

  11. Autoimmunity in visual loss.

    Science.gov (United States)

    Petzold, Axel; Wong, Sui; Plant, Gordon T

    2016-01-01

    There are a number of autoimmune disorders which can affect visual function. There are a very large number of mechanisms in the visual pathway which could potentially be the targets of autoimmune attack. In practice it is the retina and the anterior visual pathway (optic nerve and chiasm) that are recognised as being affected in autoimmune disorders. Multiple Sclerosis is one of the commonest causes of visual loss in young adults because of the frequency of attacks of optic neuritis in that condition, however the basis of the inflammation in Multiple Sclerosis and the confirmation of autoimmunity is lacking. The immune process is known to be highly unusual in that it is not systemic and confined to the CNS compartment. Previously an enigmatic partner to Multiple Sclerosis, Neuromyelitis Optica is now established to be autoimmune and two antibodies - to Aquaporin4 and to Myelin Oligodendrocyte Glycoprotein - have been implicated in the pathogenesis. The term Chronic Relapsing Inflammatory Optic Neuropathy is applied to those cases of optic neuritis which require long term immunosuppression and hence are presumed to be autoimmune but where no autoimmune pathogenesis has been confirmed. Optic neuritis occurring post-infection and post vaccination and conditions such as Systemic Lupus Erythematosus and various vasculitides may cause direct autoimmune attack to visual structures or indirect damage through occlusive vasculopathy. Chronic granulomatous disorders such as Sarcoidosis affect vision commonly by a variety of mechanisms, whether and how these are placed in the autoimmune panoply is unknown. As far as the retina is concerned Cancer Associated Retinopathy and Melanoma Associated Retinopathy are well characterised clinically but a candidate autoantibody (recoverin) is only described in the former disorder. Other, usually monophasic, focal retinal inflammatory disorders (Idiopathic Big Blind Spot Syndrome, Acute Zonal Occult Outer Retinopathy and Acute Macular

  12. Autoimmunity in Immunodeficiency

    Science.gov (United States)

    Todoric, Krista; Koontz, Jessica B.; Mattox, Daniel; Tarrant, Teresa K.

    2013-01-01

    Primary immunodeficiencies (PID) comprise a diverse group of clinical disorders with varied genetic defects. Paradoxically, a substantial proportion of PID patients develop autoimmune phenomena in addition to having increased susceptibility to infections from their impaired immunity. Although much of our understanding comes from data gathered through experimental models, there are several well-characterized PID that have improved our knowledge of the pathways that drive autoimmunity. The goals of this review will be to discuss these immunodeficiencies and to review the literature with respect to the proposed mechanisms for autoimmunity within each put forth to date. PMID:23591608

  13. Autoimmunity and the Gut

    Directory of Open Access Journals (Sweden)

    Andrew W. Campbell

    2014-01-01

    Full Text Available Autoimmune diseases have increased dramatically worldwide since World War II. This is coincidental with the increased production and use of chemicals both in industrial countries and agriculture, as well as the ease of travel from region to region and continent to continent, making the transfer of a pathogen or pathogens from one part of the world to another much easier than ever before. In this review, triggers of autoimmunity are examined, principally environmental. The number of possible environmental triggers is vast and includes chemicals, bacteria, viruses, and molds. Examples of these triggers are given and include the mechanism of action and method by which they bring about autoimmunity.

  14. Autoimmune Pancreatitis: A Succinct Overview

    OpenAIRE

    Juan Putra; Xiaoying Liu

    2015-01-01

    Autoimmune pancreatitis is a rare type of chronic pancreatitis with characteristic clinical, radiologic, and histopathologic findings. Diagnosis of autoimmune pancreatitis is often challenging due to its low incidence and nonspecific clinical and radiologic findings. Patients with autoimmune pancreatitis and pancreatic cancer share similar clinical presentations, including obstructive jaundice, abdominal pain and weight loss. Due to these overlapping features, autoimmune pancreatitis patients...

  15. Autoimmune liver diseases

    Institute of Scientific and Technical Information of China (English)

    Pietro Invernizzi; Ian R Mackay

    2008-01-01

    The liver was one of the earliest recognized sites among autoimmune diseases yet autoimmune hepatitis,primary biliary cirrhosis,primary sclerosing cholangitis,and their overlap forms,are still problematic in diagnosis and causation.The contributions herein comprise 'pairs of articles' on clinical characteristics,and concepts of etiopathogenesis,for each of the above diseases,together with childhood autoimmune liver disease,overlaps,interpretations of diagnostic serology,and liver transplantation.This issue is timely,since we are witnessing an ever increasing applicability of immunology to a wide variety of chronic diseases,hepatic and non-hepatic,in both developed and developing countries.The 11 invited expert review articles capture the changing features over recent years of the autoimmune liver diseases,the underlying immunomolecular mechanisms of development,the potent albeit still unexplained genetic influences,the expanding repertoire of immunoserological diagnostic markers,and the increasingly effective therapeutic possibilities.

  16. Psychoneuroimmunology of autoimmune disorders.

    Science.gov (United States)

    Rogers, M P; Fozdar, M

    1996-01-01

    The interactions between the immune system and psychological states are both intricate and intriguing. Research at a molecular level has thrown considerable light on the previously ill-defined area of psychoneuroimmunology. In this report, we explore the psychoneuroimmunology of autoimmune disorders, particularly rheumatoid arthritis and lupus erythematosus. Animal models of these diseases have provided a particularly useful window on complex psychoneuroimmunological interactions. Observations about the effect of stress on the onset and course of autoimmune disorders has added to our understanding of psychoneuroimmunological interactions. These interactions are bi-directional, as reflected in the autoimmune-mediated neuropsychiatric manifestations of systemic lupus. Exploring the role of various neurotransmitters and neuromodulators in the stress response may have important therapeutic implications for autoimmune disorders.

  17. Etiopathogenesis of insulin autoimmunity.

    OpenAIRE

    Åke Lenmark; Moustakas, Antonis K; Papadopoulos, George K; Norio Kanatsuna

    2012-01-01

    Autoimmunity against pancreatic islet beta cells is strongly associated with proinsulin, insulin, or both. The insulin autoreactivity is particularly pronounced in children with young age at onset of type 1 diabetes. Possible mechanisms for (pro)insulin autoimmunity may involve beta-cell destruction resulting in proinsulin peptide presentation on HLA-DR-DQ Class II molecules in pancreatic draining lymphnodes. Recent data on proinsulin peptide binding to type 1 diabetes-associated HLA-DQ2 and ...

  18. Silica, Silicosis and Autoimmunity.

    Directory of Open Access Journals (Sweden)

    Kenneth Michael Pollard

    2016-03-01

    Full Text Available Inhalation of dust containing crystalline silica is associated with a number of acute and chronic diseases including systemic autoimmune diseases. Evidence for the link with autoimmune disease comes from epidemiological studies linking occupational exposure to crystalline silica dust with the systemic autoimmune diseases SLE, SSc and RA. Although little is known regarding the mechanism by which silica exposure leads to systemic autoimmune disease, there is a voluminous literature on silica exposure and silicosis that may help identify immune processes that precede development of autoimmunity. The pathophysiology of silicosis consists of deposition of silica particles in the alveoli of the lung. Ingestion of these particles by macrophages initiates an inflammatory response which stimulates fibroblasts to proliferate and produce collagen. Silica particles are encased by collagen leading to fibrosis and the nodular lesions characteristic of the disease. The steps in the development of silicosis, including acute and chronic inflammation and fibrosis, have different molecular and cellular requirements suggesting that silica-induced inflammation and fibrosis may be mechanistically separate. Significantly, it is unclear whether silica-induced inflammation and fibrosis contribute similarly to the development of autoimmunity. Nonetheless, the findings from human and animal model studies are consistent with an autoimmune pathogenesis that begins with activation of the innate immune system leading to proinflammatory cytokine production, pulmonary inflammation leading to activation of adaptive immunity, breaking of tolerance, autoantibodies and tissue damage. The variable frequency of these immunological features following silica exposure suggests substantial genetic involvement and gene/environment interaction in silica-induced autoimmunity. However numerous questions remain unanswered.

  19. Vaccines and autoimmunity.

    Science.gov (United States)

    De Martino, M; Chiappini, E; Galli, L

    2013-01-01

    Vaccines have eradicated or controlled many infectious diseases, saving each year millions of lives and quality of life of many other millions of people. In spite of the success of vaccines over the last two centuries, parents (and also some health care workers) gloss over the devastating consequences of diseases, which are now avoided thanks to vaccines, and direct their attention to possible negative effects of immunization. Three immunological objections are raised: vaccines cause antigenic overload, natural immunity is safer and better than vaccine-induced immunity, and vaccines induce autoimmunity. The last point is examined in this review. Theoretically, vaccines could trigger autoimmunity by means of cytokine production, anti-idiotypic network, expression of human histocompatibility leukocyte antigens, modification of surface antigens and induction of novel antigens, molecular mimicry, bystander activation, epitope spreading, and polyclonal activation of B cells. There is strong evidence that none of these mechanisms is really effective in causing autoimmune diseases. Vaccines are not a source of autoimmune diseases. By contrast, absolute evidence exists that infectious agents can trigger autoimmune mechanisms and that they do cause autoimmune diseases.

  20. Postoperative Survival for Patients with Thymoma Complicating Myasthenia Gravis
- Preliminary Retrospective Results of the ChART Database

    Directory of Open Access Journals (Sweden)

    Fangrui WANG

    2016-07-01

    Full Text Available Background and objective It is so far not clear that how myasthenia gravis (MG affected the prognosis of thymoma patients. The aim of this assay is to compare the postoperative survival between patients with thymoma only and those with both thymoma and MG. Methods The Chinese Alliance for Research in Thymomas (ChART registry recruited patients with thymoma from 18 centers over the country on an intention to treat basis from 1992 to 2012. Two groups were formed according to whether the patient complicated MG. Demographic and clinical data were reviewed, Patients were followed and their survival status were analyzed. Results There were 1,850 patients included in this study, including 421 with and 1,429 without MG. Complete thymectomy were done in 91.2% patients in MG group and 71.0% in non-MG group (P<0.05. There were more percentage of patients with the histology of thymoma AB, B1, or B2 (P<0.05 in MG group, and more percentage of patients with MG were in Masaoka stage I and II. The 5 year and 10 year OS rates were both higher in MG group (93% vs 88%; 83% vs 81%, P=0.034 respectively. The survival rate was significantly higher in patients with MG when the Masaoka staging was III/IV (P=0.003. Among patients with advanced stage thymoma (stage III, IVa, IVb, the constituent ratios of III, IVa, IVb were similar between MG and Non-MG group. Histologically, however, there were significantly more proportion of AB/B1/B2/B3 in the MG group while there were more C in the non-MG group (P=0.000. Univariate analyses for all patients showed that MG, WHO classification, Masaoka stage, surgical approach, chemotherapy and radiotherapy and resectability were significant factors, and multivariate analysis showed WHO Classification, Masaoka stage, and resectability were strong independent prognostic indicators. Conclusion Although MG is not an independent prognostic factor, the survival of patients with thymoma was superior when MG was present, especially in late

  1. Passive and active immunization models of MuSK-Ab positive myasthenia: electrophysiological evidence for pre and postsynaptic defects.

    Science.gov (United States)

    Viegas, Stuart; Jacobson, Leslie; Waters, Patrick; Cossins, Judith; Jacob, Saiju; Leite, M Isabel; Webster, Richard; Vincent, Angela

    2012-04-01

    Antibodies directed against the post-synaptic neuromuscular junction protein, muscle specific kinase (MuSK) are found in a small proportion of generalized myasthenia gravis (MuSK-MG) patients. MuSK is a receptor tyrosine kinase which is essential for clustering of the acetylcholine receptors (AChRs) at the neuromuscular junction, but the mechanisms by which MuSK antibodies (MuSK-Abs) affect neuromuscular transmission are not clear. Experimental models of MuSK-MG have been described but there have been no detailed electrophysiological studies and no comparisons between the MuSK-MG and the typical form with AChR-Abs (AChR-MG). Here we studied the electrophysiology of neuromuscular transmission after immunization against MuSK compared with immunization against AChR, and also after passive transfer of IgG from MuSK-MG or AChR-MG patients. Overt clinical weakness was observed in 6/10 MuSK-immunized and 3/9 AChR-immunized mice but not in those injected with patients' IgG. Miniature endplate potentials (MEPPS) were reduced in all weak mice consistent with the reduction in postsynaptic AChRs that was found. However, whereas there was an increase in the quantal release of acetylcholine (ACh) in the weak AChR-immunized mice, no such increase was found in the weak MuSK-immunized mice. Similar trends were found after the passive transfer of purified IgG antibodies from MuSK-MG or AChR-MG patients. Preliminary results showed that MuSK expression was considerably higher at the neuromuscular junctions of the masseter (facial) than in the gastrocnemius (leg) with no reduction in MuSK immunostaining at the neuromuscular junctions. Overall, these results suggest that MuSK antibodies act in at least two ways. Firstly by indirectly affecting MuSK's ability to maintain the high density of AChRs and secondly by interfering with a compensatory presynaptic mechanism that regulates quantal release and helps to preserve neuromuscular function. These results raise questions about how MuSK is

  2. Autoimmunity and Asbestos Exposure

    Directory of Open Access Journals (Sweden)

    Jean C. Pfau

    2014-01-01

    Full Text Available Despite a body of evidence supporting an association between asbestos exposure and autoantibodies indicative of systemic autoimmunity, such as antinuclear antibodies (ANA, a strong epidemiological link has never been made to specific autoimmune diseases. This is in contrast with another silicate dust, crystalline silica, for which there is considerable evidence linking exposure to diseases such as systemic lupus erythematosus, systemic sclerosis, and rheumatoid arthritis. Instead, the asbestos literature is heavily focused on cancer, including mesothelioma and pulmonary carcinoma. Possible contributing factors to the absence of a stronger epidemiological association between asbestos and autoimmune disease include (a a lack of statistical power due to relatively small or diffuse exposure cohorts, (b exposure misclassification, (c latency of clinical disease, (d mild or subclinical entities that remain undetected or masked by other pathologies, or (e effects that are specific to certain fiber types, so that analyses on mixed exposures do not reach statistical significance. This review summarizes epidemiological, animal model, and in vitro data related to asbestos exposures and autoimmunity. These combined data help build toward a better understanding of the fiber-associated factors contributing to immune dysfunction that may raise the risk of autoimmunity and the possible contribution to asbestos-related pulmonary disease.

  3. Vaccines and autoimmunity.

    Science.gov (United States)

    Agmon-Levin, Nancy; Paz, Ziv; Israeli, Eitan; Shoenfeld, Yehuda

    2009-11-01

    Vaccines have been used for over 200 years and are the most effective way of preventing the morbidity and mortality associated with infections. Like other drugs, vaccines can cause adverse events, but unlike conventional medicines, which are prescribed to people who are ill, vaccines are administered to healthy individuals, thus increasing the concern over adverse reactions. Most side effects attributed to vaccines are mild, acute and transient; however, rare reactions such as hypersensitivity, induction of infection, and autoimmunity do occur and can be severe and even fatal. The rarity and subacute presentation of post-vaccination autoimmune phenomena means that ascertaining causality between these events can be difficult. Moreover, the latency period between vaccination and autoimmunity ranges from days to years. In this article, on the basis of published evidence and our own experience, we discuss the various aspects of the causal and temporal interactions between vaccines and autoimmune phenomena, as well as the possible mechanisms by which different components of vaccines might induce autoimmunity.

  4. Complement and autoimmunity.

    Science.gov (United States)

    Ballanti, Eleonora; Perricone, Carlo; Greco, Elisabetta; Ballanti, Marta; Di Muzio, Gioia; Chimenti, Maria Sole; Perricone, Roberto

    2013-07-01

    The complement system is a component of the innate immune system. Its main function was initially believed to be limited to the recognition and elimination of pathogens through direct killing or stimulation of phagocytosis. However, in recent years, the immunoregulatory functions of the complement system were demonstrated and it was determined that the complement proteins play an important role in modulating adaptive immunity and in bridging innate and adaptive responses. When the delicate mechanisms that regulate this sophisticated enzymatic system are unbalanced, the complement system may cause damage, mediating tissue inflammation. Dysregulation of the complement system has been involved in the pathogenesis and clinical manifestations of several autoimmune diseases, such as systemic lupus erythematosus, vasculitides, Sjögren's syndrome, antiphospholipid syndrome, systemic sclerosis, dermatomyositis, and rheumatoid arthritis. Complement deficiencies have been associated with an increased risk to develop autoimmune disorders. Because of its functions, the complement system is an attractive therapeutic target for a wide range of diseases. Up to date, several compounds interfering with the complement cascade have been studied in experimental models for autoimmune diseases. The main therapeutic strategies are inhibition of complement activation components, inhibition of complement receptors, and inhibition of membrane attack complex. At present, none of the available agents was proven to be both safe and effective for treatment of autoimmune diseases in humans. Nonetheless, data from preclinical studies and initial clinical trials suggest that the modulation of the complement system could constitute a viable strategy for the treatment of autoimmune conditions in the decades to come.

  5. Autoimmunity in 2015.

    Science.gov (United States)

    Selmi, Carlo

    2016-08-01

    Compared to the clear trend observed in previous years, the number of peer-reviewed articles published during 2015 and retrieved using the "autoimmunity" key word declined by 4 %, while remaining 5 % of immunology articles. On the other hand, a more detailed analysis of the published articles in leading immunology and autoimmunity journals revealed exciting scenarios, with fascinating lines of evidence being supported by convincing data and likely followed by rapid translational or clinical developments. As examples, the study of the microbiome, the development of new serum or other tissue biomarkers, and a more solid understanding of disease pathogenesis and tolerance breakdown mechanisms have been central issues in the past year. Furthermore and similar to the oncology field, progress in the understanding of single autoimmune condition is becoming most specific with psoriatic and rheumatoid arthritis being ideal paradigms with treatment options diverging after decades of common therapies, as illustrated by IL17-targeting approaches. The ultimate result of these advances is towards personalized medicine with an ideal approach being tailored on a single patient, based on a finely tuned definition of the immunogenetics, epigenetics, microbiome, and biomarkers. Finally, experimental reports suggest that cancer-associated immune mechanisms or the role of T and B cell subpopulations should be better understood in autoimmune diseases. While we hailed the 2014 literature in the autoimmunity world as part of an annus mirabilis, we should not be mistaken in the strong stimulus of research in autoimmunity represented by the 2015 articles that will be summarized in this article. PMID:27422713

  6. Common mechanisms of autoimmune diseases (the autoimmune tautology).

    Science.gov (United States)

    Anaya, Juan-Manuel

    2012-09-01

    The fact that autoimmune diseases share subphenotypes, physiopathological mechanisms and genetic factors has been called autoimmune tautology, and indicates that they have a common origin. The autoimmune phenotypes vary depending on the target cell and the affected organ, gender, ancestry, trigger factors and age at onset. Ten shared characteristics supporting this logical theory are herein reviewed.

  7. Epigenomics of autoimmune diseases.

    Science.gov (United States)

    Gupta, Bhawna; Hawkins, R David

    2015-03-01

    Autoimmune diseases are complex disorders of largely unknown etiology. Genetic studies have identified a limited number of causal genes from a marginal number of individuals, and demonstrated a high degree of discordance in monozygotic twins. Studies have begun to reveal epigenetic contributions to these diseases, primarily through the study of DNA methylation, but chromatin and non-coding RNA changes are also emerging. Moving forward an integrative analysis of genomic, transcriptomic and epigenomic data, with the latter two coming from specific cell types, will provide an understanding that has been missed from genetics alone. We provide an overview of the current state of the field and vision for deriving the epigenomics of autoimmunity.

  8. Fisiopatologia e tratamento da miastenia gravis : atualidade e perspetivas futuras

    OpenAIRE

    Carneiro, Sandra Cristiana Rodrigues

    2012-01-01

    A Miastenia Gravis é a doença autoimune da junção neuromuscular mais comum. Deve-se, maioritariamente, à produção de AC contra os recetores da acetilcolina pós-sinápticos, ou contra a tirosina quinase músculo-específica, que provocam alterações morfológicas e/ou fisiológicas da junção neuromuscular. Do ponto de vista imunopatogénico, consiste num processo autoimune, dependente de células T, mediado por linfócitos B produtores de auto-AC. O timo parece estar implicado na perda de tolerância...

  9. [Autoimmune hemolytic anemia in children].

    Science.gov (United States)

    Becheur, M; Bouslama, B; Slama, H; Toumi, N E H

    2015-01-01

    Autoimmune hemolytic anemia is a rare condition in children which differs from the adult form. It is defined by immune-mediated destruction of red blood cells caused by autoantibodies. Characteristics of the autoantibodies are responsible for the various clinical entities. Classifications of autoimmune hemolytic anemia include warm autoimmune hemolytic anemia, cold autoimmune hemolytic anemia, and paroxysmal cold hemoglobinuria. For each classification, this review discusses the epidemiology, etiology, clinical presentation, laboratory evaluation, and treatment options. PMID:26575109

  10. Autoimmune muscular pathologies.

    Science.gov (United States)

    Dalakas, M C

    2005-05-01

    The T cell-mediated mechanism responsible for Polymyositis and inclusion Body Myositis and the complement-mediated microangiopathy associated with Dermatomyositis are reviewed. The management of autoimmune myopathies with the presently available immunotherapeutic agents as well as new therapies and ongoing trials are discussed.

  11. Autoimmune pancreatitis and cholangitis

    Institute of Scientific and Technical Information of China (English)

    Niraj; Jani; James; Buxbaum

    2015-01-01

    Autoimmune pancreatitis(AIP) is part of a systemic fibrosclerotic process characterized by lymphoplasmacytic infiltrate with immunoglobulin G subtype-4(Ig G4) positive cells. It characteristically presents with biliary obstruction due to mass-like swelling of the pancreas. Frequently AIP is accompanied by extra-pancreaticmanifestations including retroperitoneal fibrosis, thyroid disease, and salivary gland involvement. Auto-antibodies, hypergammaglobulemia, and prompt resolution of pancreatic and extrapancreatic findings with steroids signify its autoimmune nature. Refractory cases are responsive to immunomodulators and rituximab. Involvement of the biliary tree, termed IgG 4 associated cholangiopathy, mimics primary sclerosing cholangitis and is challenging to manage. High IgG 4 levels and swelling of the pancreas with a diminutive pancreatic duct are suggestive of autoimmune pancreatitis. Given similarities in presentation but radical differences in management and outcome, differentiation from pancreatic malignancy is of paramount importance. There is controversy regarding the optimal diagnostic criterion and steroid trials to make the diagnosis. Additionally, the retroperitoneal location of the pancreas and requirement for histologic sampling, makes tissue acquisition challenging. Recently, a second type of autoimmune pancreatitis has been recognized with similar clinical presentation and steroid response though different histology, serologic, and extrapancreatic findings.

  12. Autoimmunity and Turner's syndrome.

    Science.gov (United States)

    Lleo, Ana; Moroni, Luca; Caliari, Lisa; Invernizzi, Pietro

    2012-05-01

    Turner Syndrome (TS) is a common genetic disorder, affecting female individuals, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. TS is closely associated to the presence of autoantibodies and autoimmune diseases (AID), especially autoimmune thyroiditis and inflammatory bowel disease. Despite the fact that the strong association between TS and AID is well known and has been widely studied, the underlying immunopathogenic mechanism remains partially unexplained. Recent studies have displayed how TS patients do not show an excess of immunogenic risk markers. This is evocative for a higher responsibility of X-chromosome abnormalities in the development of AID, and particularly of X-genes involved in immune response. For instance, the long arm of the X chromosome hosts a MHC-locus, so the loss of that region may lead to a deficiency in immune regulation. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of autoimmune manifestations. Individuals with TS need life-long medical attention. As a consequence of these findings, early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients. PMID:22154619

  13. Autoimmune paediatric liver disease

    Institute of Scientific and Technical Information of China (English)

    Giorgina Mieli-Vergani; Diego Vergani

    2008-01-01

    Liver disorders with a likely autoimmune pathogenesis in childhood include autoimmune hepatitis (AIH), autoimmune sclerosing cholangitis (ASC),and de novo AIH after liver transplantation.AIH is divided into two subtypes according to seropositivity for smooth muscle and/or antinuclear antibody (SMA/ANA,type 1) or liver kidney microsomal antibody (LKM1,type 2).There is a female predominance in both.LKM1 positive patients tend to present more acutely,at a younger age,and commonly have partial IgA deficiency,while duration of symptoms before diagnosis,clinical signs,family history of autoimmunity, presence of associated autoimmune disorders,response to treatment,and long-term prognosis are similar in both groups. The most common type of paediatric sclerosing cholangitis is ASC.The clinical,biochemical, immunological,and histological presentation of ASC is often indistinguishable from that of AIH type 1.In both,there are high IgG,non-organ specific autoantibodies,and interface hepatitis.Diagnosis is made by cholangiography.Children with ASC respond to immunosuppression satisfactorily and similarly to AIH in respect to remission and relapse rates,times to normalization of biochemical parameters, and decreased inflammatory activity on follow up liver biopsies. However,the cholangiopathy can progress.There may be evolution from AIH to ASC over the years,despite treatment.De novo AIH after liver transplantation affects patients not transplanted for autoimmune disorders and is strikingly reminiscent of classical AIH,including elevated titres of serum antibodies, hypergammaglobulinaemia,and histological findings of interface hepatitis,bridging fibrosis,and collapse.Like classical AIH,it responds to treatment with prednisolone and azathioprine.De novo AIH post liver transplantation may derive from interference by calcineurin inhibitors with the intrathymic physiological mechanisms of T-cell maturation and selection.Whether this condition is a distinct entity or a form of

  14. Emergency nursing care of a case with myasthenia gravis in articulo%1例重症肌无力危象病人的急救护理

    Institute of Scientific and Technical Information of China (English)

    栗江霞; 钱静文

    2005-01-01

    @@ 重症肌无力(MG)是一种神经-肌肉接头部位的乙酰胆碱传递障碍的自身免疫性疾病.肌无力危象(MGC)是指重症肌无力病人急骤发生呼吸肌或/和由延髓支配的肌肉严重无力导致呼吸、咳嗽困难和威胁病人生命安全的一种征象.临床表现为呼吸微弱、咳嗽无力、语音低调及烦躁、发绀等缺氧症状.我科于2004年3月成功抢救了1例重症肌无力危象病人.现将护理体会报告如下.

  15. The actualities of treatment of myasthenia gravis with peripheral blood stem cell transplantation%重症肌无力的干细胞治疗现状

    Institute of Scientific and Technical Information of China (English)

    莫雪安

    2005-01-01

    重症肌无力(MG)是神经一肌肉接头传递障碍的自身免疫性疾病(AID)。目前治疗多采用胆碱酯酶抑制剂、肾上腺糖皮质激素、胸腺切除或放疗、免疫抑制剂、血浆置换、大剂量免疫球蛋白、免疫吸附等方法,但对一些难治性患者疗效欠佳。近十年来,造血干细胞移植治疗AID如多发性硬化、系统性红斑狼疮、MG等取得了突破性进展。本文就MG的干细胞治疗现状作一综述。

  16. A Study on the Routine Needle Electromyography Findings in Patients with Myasthenia Gravis%重症肌无力常规针极肌电图表现

    Institute of Scientific and Technical Information of China (English)

    侯世芳; 刘银红; 王湘; 时苗; 秦绍森

    2008-01-01

    目的 研究重症肌无力(MG)患者常规针极肌电图(EMG)表现及其诊断价值.方法 回顾性分析83例完成右侧三角肌针极EMG、腋神经低频重复电刺激(RNS)和伸指总肌单纤维肌电图(SFEMG)检查的MG患者的有关资料,分析针极EMG的表现及其与RNS的相关性.结果 83例中EMG检查结果正常12例(14.5%),异常71例(85.5%).在EMG异常者中,出现平均运动单位电位(MUAP)时限缩短67例(94.4%),多项波增多者37例(52.1%),大力收缩时募集电位呈病理干扰相19例(26.8%),异常自发电位3例(4.2%),结果符合"肌源性损害"表现19例(26.8%).腋神经RNS时三角肌波幅衰减幅度与三角肌平均MUAP时限呈负相关.结论 MG患者常规EMG检查主要异常表现为MUAP时限缩短,少数可见"肌源性损害"的EMG表现.对于临床表现不典型的MG患者应检查EMG并结合RNS和SFEMG检查进行诊断和鉴别诊断.

  17. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  18. Update on autoimmune hepatitis

    Institute of Scientific and Technical Information of China (English)

    Andreas Teufel; Peter R Galle; Stephan Kanzler

    2009-01-01

    Autoimmune hepatitis (AIH) is a necroinflammatory liver disease of unknown etiology that occurs in children and adults of all ages. Characteristics are its autoimmune features, hyperglobulinemia (IgG), and the presence of circulating autoantibodies, as well as a response to immunosuppressant drugs. Current treatment consists of prednisone and azathioprine and in most patients this disease has become very treatable. Over the past 2 years, a couple of new insights into the genetic aspects, clinical course and treatment of AIH have been reported, which will be the focus of this review. In particular, we concentrate on genome-wide microsatellite analysis, a novel mouse model of AIH, the evaluation of a large AIH cohort for overlap syndromes,suggested novel criteria for the diagnosis of AIH, and the latest studies on treatment of AIH with budenoside and mycophenolate mofetil.

  19. Autoimmune Progesterone Anaphylaxis

    Directory of Open Access Journals (Sweden)

    Mohammad Hassan Bemanian

    2007-06-01

    Full Text Available Progesterone induced dermatitis is a rare disorder. It typically occurs in females due to anautoimmune phenomenon to endogenous progesterone production, but can also be caused byexogenous intake of a synthetic progestin. Here in, we present a case of autoimmune progesterone anaphylaxis (AIPA observed in an adolescent female.The patient is an 18-year-old Caucasian female with no significant past medical history and noprior exogenous hormone use, who presented to her primary care physician complaining of cyclic skin eruptions with dyspnea, cough and respiratory distress. She noted that her symptoms occurred monthly, just prior to her menses. An intradermal skin test using 0.1 cml of progesterone was performed. The patient developed a 15mm wheal after 15 minutes, confirming the diagnosis of AIPA.The patient was started on a continuous regimen of an oral conjugated estrogen (0.625mg. The skin eruptions and respiratory symptoms have not returned since the initiation of this therapy.Autoimmune progesterone dermatitis manifests via the occurrence of cyclic skin eruptions.Women with the disorder commonly present with dermatologic lesions in the luteal phase of themenstrual cycle, if there are any other organ involvement in addition to skin (e.g. lung, GI thereaction should be called as autoimmune progesterone anaphylaxis. Diagnosis of AIPA is confirmed by performing a skin allergen test using progesterone.

  20. Etiopathogenesis of Insulin Autoimmunity

    Directory of Open Access Journals (Sweden)

    Norio Kanatsuna

    2012-01-01

    Full Text Available Autoimmunity against pancreatic islet beta cells is strongly associated with proinsulin, insulin, or both. The insulin autoreactivity is particularly pronounced in children with young age at onset of type 1 diabetes. Possible mechanisms for (proinsulin autoimmunity may involve beta-cell destruction resulting in proinsulin peptide presentation on HLA-DR-DQ Class II molecules in pancreatic draining lymphnodes. Recent data on proinsulin peptide binding to type 1 diabetes-associated HLA-DQ2 and -DQ8 is reviewed and illustrated by molecular modeling. The importance of the cellular immune reaction involving cytotoxic CD8-positive T cells to kill beta cells through Class I MHC is discussed along with speculations of the possible role of B lymphocytes in presenting the proinsulin autoantigen over and over again through insulin-carrying insulin autoantibodies. In contrast to autoantibodies against other islet autoantigens such as GAD65, IA-2, and ZnT8 transporters, it has not been possible yet to standardize the insulin autoantibody test. As islet autoantibodies predict type 1 diabetes, it is imperative to clarify the mechanisms of insulin autoimmunity.

  1. Autoimmune thyroid disease and other non-endocrine autoimmune diseases

    OpenAIRE

    Todorović-Đilas Ljiljana; Ičin Tijana; Novaković-Paro Jovanka; Bajkin Ivana

    2011-01-01

    Introduction, Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a...

  2. Epilepsy in systemic autoimmune disorders.

    Science.gov (United States)

    Valencia, Ignacio

    2014-09-01

    Autoimmunity and inflammation have been implicated as causative factors of seizures and epilepsy. Autoimmune disorders can affect the central nervous system as an isolated syndrome or be part of a systemic disease. Examples of systemic autoimmune disorders include systemic lupus erythematosus, antiphospholipid syndrome, rheumatic arthritis, and Sjögren syndrome. Overall, there is a 5-fold increased risk of seizures and epilepsy in children with systemic autoimmune disorders. Various etiologic factors have been implicated in causing the seizures in these patients, including direct inflammation, effect on blood vessels (vasculitis), and production of autoantibodies. Potential treatments for this autoimmune injury include steroids, immunoglobulins, and other immune-modulatory therapies. A better understanding of the mechanisms of epileptogenesis in patients with systemic autoimmune diseases could lead to targeted treatments and better outcomes. PMID:25510945

  3. Autoimmune Thyroid Diseases in Children

    OpenAIRE

    Francesca Crea; Carla Bizzarri; Marco Cappa

    2011-01-01

    The two major autoimmune thyroid diseases (ATDs) include Graves' disease (GD) and autoimmune thyroiditis (AT); both of which are characterized by infiltration of the thyroid by T and B cells reactive to thyroid antigens, by the production of thyroid autoantibodies and by abnormal thyroid function (hyperthyroidism in GD and hypothyroidism in AT). While the exact etiology of thyroid autoimmunity is not known, it is believed to develop when a combination of genetic susceptibility and environment...

  4. Autoantibodies in autoimmune liver diseases.

    Science.gov (United States)

    Sener, Asli Gamze

    2015-11-01

    Autoimmune hepatitis is a chronic hepatitis of unknown etiology characterized by clinical, histological, and immunological features, generally including circulating autoantibodies and a high total serum and/or gamma globulin. Liver-related autoantibodies are very significant for the correct diagnosis and classification of autoimmune liver diseases (AILD), namely autoimmune hepatitis types 1 and 2 (AIH-1 and 2), primary biliary cirrhosis (PBC), and the sclerosing cholangitis types in adults and children. This article intends to review recent studies that investigate autoantibodies in autoimmune liver diseases from a microbiological perspective.

  5. The Use of Noninvasive Mechanical Ventilation in Myasthenic Crisis

    OpenAIRE

    Mustafa Said Aydoğan; M. Ali Erdoğan; Aytaç Yücel; Ülkü Özgül; Hüseyin Konur; Türkan Toğal; Mahmut Durmuş

    2012-01-01

    Myasthenia gravis is an autoimmune disease of the nicotinic acetylcholin receptors at the postsynaptic membrane of the neuromuscular junction. Myasthenic crisis, defined as respiratory failure requiring mechanical ventilation is a common life-threatening complication that occur approximately 15% to 20% of patients with MG. Endotracheal intubation and invasive mechanical ventilation have a number of complications and a high mortality. On the other hand, noninvasive mechanical ventilation is be...

  6. Immunisation with Torpedo acetylcholine receptor.

    Science.gov (United States)

    Elfman, L

    1984-01-01

    Acetylcholine mediates the transfer of information between neurons in the electric organ of, for example, Torpedo as well as in vertebrate skeletal muscle. The nicotinic acetylcholine receptor complex translates the binding of acetylcholine into ion permeability changes. This leads to an action potential in the muscle fibre. The nicotinic acetylcholine receptor protein has been purified from Torpedo by use of affinity chromatography. The receptor is an intrinsic membrane glycoprotein composed of five polypeptide chains. When various animals are immunised with the receptor they demonstrate clinical signs of severe muscle weakness coincident with high antibody titres in their sera. The symptoms resemble those found in the autoimmune neuromuscular disease myasthenia gravis in humans. This animal model has constituted a unique model for studying autoimmune diseases. This paper reviews some of the work using Torpedo acetylcholine receptor in order to increase the understanding of the motor nervous system function and myasthenia gravis. It is now known that the nicotinic acetylcholine receptor protein is the antigen involved in myasthenia gravis. The mechanism of immune damage involves a direct block of the receptor function. This depends on the presence of antibodies which crosslink the postsynaptic receptors leading to their degradation. The questions to be answered in the future are; (a) what initiates or triggers the autoimmune response, (b) how do the antibodies cause the symptoms--is there a steric hindrance of the interaction of acetylcholine and the receptor, (c) why is there not a strict relationship between antibody titre and severity of symptoms, and (d) why are some muscles affected and other spared? With help of the experimental model, answers to these questions may result in improved strategies for the treatment of the autoimmune disease myasthenia gravis. PMID:6097937

  7. The emerging diversity of neuromuscular junction disorders

    OpenAIRE

    Newsom-Davis, J

    2007-01-01

    Research advances over the last 30 years have shown that key transmembrane proteins at the neuromuscular junction are vulnerable to antibody-mediated autoimmune attack These targets are acetylcholine receptors (AChRs) and muscle specific kinase (MuSK) in myasthenia gravis, voltage-gated calcium channels (VGCCs) in the Lambert-Eaton myasthenic syndrome (LEMS), and voltage-gated potassium channels (VGKCs) in neuromyotonia. In parallel with these immunological advances, mutations identified in g...

  8. Neuropathology of autoimmune encephalitides.

    Science.gov (United States)

    Bauer, Jan; Bien, Christian G

    2016-01-01

    In recent years a large number of antibody-associated or antibody-defined encephalitides have been discovered. These conditions are often referred to as autoimmune encephalitides. The clinical features include prominent epileptic seizures, cognitive and psychiatric disturbance. These encephalitides can be divided in those with antibodies against intracellular antigens and those with antibodies against surface antigens. The discovery of new antibodies against targets on the surface of neurons is especially interesting since patients with such antibodies can be successfully treated immunologically. This chapter focuses on the pathology and the pathogenetic mechanisms involved in these encephalitides and discusses some of the questions that are raised in this exciting new field. It is important to realise, however, that because of the use of antibodies to diagnose the patients, and their improvement with treatment, there are relatively few biopsy or postmortem reports, limiting the neuropathological data and conclusions that can be drawn. For this reason we especially focus on the most frequent autoimmune encephalitides, those with antibodies to the NMDA receptor and with antibodies to the known protein components of the VGKC complex. Analysis of these encephalitides show completely different pathogenic mechanisms. In VGKC complex encephalitis, antibodies seem to bind to their target and activate complement, leading to destruction and loss of neurons. On the other hand, in NMDAR encephalitis, complement activation and neuronal degeneration seems to be largely absent. Instead, binding of antibodies leads to a decrease of NMDA receptors resulting in a hypofunction. This hypofunction offers an explanation for some of the clinical features such as psychosis and episodic memory impairment, but not for the frequent seizures. Thus, additional analysis of the few human brain specimens present and the use of specific animal models are needed to further understand the effects

  9. Neuropathology of autoimmune encephalitides.

    Science.gov (United States)

    Bauer, Jan; Bien, Christian G

    2016-01-01

    In recent years a large number of antibody-associated or antibody-defined encephalitides have been discovered. These conditions are often referred to as autoimmune encephalitides. The clinical features include prominent epileptic seizures, cognitive and psychiatric disturbance. These encephalitides can be divided in those with antibodies against intracellular antigens and those with antibodies against surface antigens. The discovery of new antibodies against targets on the surface of neurons is especially interesting since patients with such antibodies can be successfully treated immunologically. This chapter focuses on the pathology and the pathogenetic mechanisms involved in these encephalitides and discusses some of the questions that are raised in this exciting new field. It is important to realise, however, that because of the use of antibodies to diagnose the patients, and their improvement with treatment, there are relatively few biopsy or postmortem reports, limiting the neuropathological data and conclusions that can be drawn. For this reason we especially focus on the most frequent autoimmune encephalitides, those with antibodies to the NMDA receptor and with antibodies to the known protein components of the VGKC complex. Analysis of these encephalitides show completely different pathogenic mechanisms. In VGKC complex encephalitis, antibodies seem to bind to their target and activate complement, leading to destruction and loss of neurons. On the other hand, in NMDAR encephalitis, complement activation and neuronal degeneration seems to be largely absent. Instead, binding of antibodies leads to a decrease of NMDA receptors resulting in a hypofunction. This hypofunction offers an explanation for some of the clinical features such as psychosis and episodic memory impairment, but not for the frequent seizures. Thus, additional analysis of the few human brain specimens present and the use of specific animal models are needed to further understand the effects

  10. Mast Cell and Autoimmune Diseases

    OpenAIRE

    Yunzhi Xu; Guangjie Chen

    2015-01-01

    Mast cells are important in innate immune system. They have been appreciated as potent contributors to allergic reaction. However, increasing evidence implicates the important role of mast cells in autoimmune disease like rheumatoid arthritis and multiple sclerosis. Here we review the current stage of knowledge about mast cells in autoimmune diseases.

  11. Aetiopathogenesis of autoimmune hepatitis

    Institute of Scientific and Technical Information of China (English)

    Diego Vergani; Giorgina Mieli-Vergani

    2008-01-01

    The histological hallmark of autoimmune hepatitis (AIH) is a dense portal mononuclear cell infiltrate that invades the surrounding parenchyma and comprises T and B lymphocytes,macrophages,and plasma cells.An unknown but powerful stimulus must be promoting the formation of this massive inflammatory cellular reaction that is likely to initiate and perpetuate liver damage.An autoimmune attack can follow different pathways to inflict damage on hepatocytes.Liver damage is likely to be orchestrated by CD4+T lymphocytes recognizing an autoantigenic liver peptide.To trigger an autoimmune response,the peptide must be embraced by an HLA class Ⅱ molecule and presented to naive CD4+T helper (Th0) cells by professional antigen presenting cells,with the co-stimulation of ligand-ligand fostering interaction between the two cells.Th0 cells become activated,differentiate into functional phenotypes according to the cytokines prevailing in the microenvironment and the nature of the antigen,and initiate a cascade of immune reactions determined by the cytokines produced by the activated T cells.Th1 cells,arising in the presence of the macrophage-derived interleukin (IL)-12,secrete mainly IL-2 and interferon-gamma (IFN-γ),which activate macrophages,enhance expression of HLA class Ⅰ (increasing liver cell vulnerability to a CD8+T cell cytotoxic attack),and induce expression of HLA class Ⅱ molecules on hepatocytes.Th2 cells,which differentiate from Th0 if the microenvironment is rich in IL-4,produce mainly IL-4,IL-10,and IL-13 which favour autoantibody production by B lymphocytes.Physiologically,Th1 and Th2 antagonize each other.Th17 cells,a recently described population,arise in the presence of transforming growth factor beta (TGF-β) and IL-6 and appear to have an important effector role in inflammation and autoimmunity.The process of autoantigen recognition is strictly controlled by regulatory mechanisms,such as those exerted by CD4+CD25+regulatory T cells,which derive from Th0

  12. Endocrine autoimmunity in Turner syndrome

    Science.gov (United States)

    2013-01-01

    Background Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. Methods Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined. Results Out of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto’s thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves’ disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0–9.9, 10–19.9 and 20–29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05). Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173). When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was

  13. SOCS, inflammation and autoimmunity

    Directory of Open Access Journals (Sweden)

    Akihiko eYoshimura

    2012-03-01

    Full Text Available Cytokines play essential roles in innate and adaptive immunity. However, excess cytokines or dysregulation of cytokine signaling can cause a variety of diseases, including allergies, autoimmune diseases, inflammation, and cancer. Most cytokines utilize the so-called Janus kinase-signal transducers and activators of transcription (JAK-STAT pathway. This pathway is negatively regulated by various mechanisms including suppressors of cytokine signaling (SOCS proteins. SOCS proteins bind to JAK or cytokine receptors, thereby suppressing further signaling events. Especially, SOCS1 and SOCS3 are strong inhibitors of JAK, because these two contain kinase inhibitory region (KIR at the N-terminus. Studies using conditional knockout mice have shown that SOCS proteins are key physiological as well as pathological regulators of immune homeostasis. Recent studies have also demonstrated that SOCS1 and SOCS3 are important regulators of helper T cell differentiation and functions.

  14. Adult autoimmune enteropathy

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Recent reports have suggested that autoimmune enteropathy involving the small bowel may occur in adults as well as in children. Apparently, the endoscopic and histological changes are similar to celiac disease before treatment, but these are not altered by any form of dietary restriction, including a gluten-free diet. As in celiac disease, histologic changes in gastric and colonic biopsies have also been recorded. Anti enterocyte antibodies detected with immunofluorescent methods have been reported by a few laboratories, but these antibodies appear not to be specific and may simply represent epiphenomena. A widely available, reproducible and quantitative anti-enterocyte antibody assay is needed that could be applied in small bowel disorders that have the histological appearance of celiac disease, but fail to respond to a gluten-free diet.

  15. Psychoneuroimmunology - psyche and autoimmunity.

    Science.gov (United States)

    Ziemssen, Tjalf

    2012-01-01

    Psychoneuroimmunology is a relatively young field of research that investigates interactions between central nervous and immune system. The brain modulates the immune system by the endocrine and autonomic nervous system. Vice versa, the immune system modulates brain activity including sleep and body temperature. Based on a close functional and anatomical link, the immune and nervous systems act in a highly reciprocal manner. From fever to stress, the influence of one system on the other has evolved in an intricate manner to help sense danger and to mount an appropriate adaptive response. Over recent decades, reasonable evidence has emerged that these brain-to-immune interactions are highly modulated by psychological factors which influence immunity and autoimmune disease. For several diseases, the relevance of psychoneuroimmunological findings has already been demonstrated.

  16. Pathophysiology of autoimmune polyneuropathies.

    Science.gov (United States)

    Dalakas, Marinos C

    2013-06-01

    The most common autoimmune neuropathies include the acute inflammatory polyneuropathy [the Guillain-Barré Syndrome(s)]; chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN) and IgM anti-MAG-antibody mediated paraproteinemic neuropathy. These neuropathies occur when immunologic tolerance to peripheral nerve components (myelin, Schwann cell, axon, and motor or ganglionic neurons) is lost. Based on the immunopathologic similarities with experimental allergic neuritis induced after immunization with nerve proteins, disease transfer experiments with the patients' serum or with intraneural injections, and immunocytochemical studies on the patients' nerves, it appears that both cellular and humoral factors, either independently or in concert with each other, play a role in the cause of these neuropathies. Although in some of them there is direct evidence for autoimmune reactivity mediated by specific antibodies or autoreactive T lymphocytes, in others the underlying immune-mediated mechanisms have not been fully elucidated, in spite of good response to immunotherapies. The review highlights the factors associated with breaking the T-cell tolerance, the T-cell activation and costimulatory molecules, the immunoregulatory T-cells and relevant cytokines and the antibodies against peripheral nerve glycolipids or glycoproteins that seem to be of pathogenic relevance. Antigens in the nodal, paranodal and juxtaparanodal regions are discussed as potentially critical targets in explaining conduction failure and rapid recovery. Based on the immunopathologic network believed to play a fundamental role in the pathogenesis of these neuropathies, future therapeutic directions are highlighted using new biological agents against T-cells, cytokines, B-cells, transmigration and transduction molecules.

  17. Type 1 diabetes associated autoimmunity.

    Science.gov (United States)

    Kahaly, George J; Hansen, Martin P

    2016-07-01

    Diabetes mellitus is increasing in prevalence worldwide. The economic costs are considerable given the cardiovascular complications and co-morbidities that it may entail. Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the loss of insulin-producing pancreatic β-cells. The pathogenesis of T1D is complex and multifactorial and involves a genetic susceptibility that predisposes to abnormal immune responses in the presence of ill-defined environmental insults to the pancreatic islets. Genetic background may affect the risk for autoimmune disease and patients with T1D exhibit an increased risk of other autoimmune disorders such as autoimmune thyroid disease, Addison's disease, autoimmune gastritis, coeliac disease and vitiligo. Approximately 20%-25% of patients with T1D have thyroid antibodies, and up to 50% of such patients progress to clinical autoimmune thyroid disease. Approximately 0.5% of diabetic patients have concomitant Addison's disease and 4% have coeliac disease. The prevalence of autoimmune gastritis and pernicious anemia is 5% to 10% and 2.6% to 4%, respectively. Early detection of antibodies and latent organ-specific dysfunction is advocated to alert physicians to take appropriate action in order to prevent full-blown disease. Patients and family members should be educated to be able to recognize signs and symptoms of underlying disease.

  18. [Autoimmune pancreatitis as an element of autoimmune polyglandular syndrome].

    Science.gov (United States)

    Dyrla, Przemysław; Nowak, Tomasz; Gil, Jerzy; Adamiec, Cezary; Bobula, Mariusz; Saracyn, Marek

    2016-05-01

    Autoimmune pancreatitis constantly belongs to diseases which often causes significant diagnostic problem and often runs out with surgical intervention as considered to be a pancreatic cancer. Important although usually underestimated problems are polyglandular syndromes, which may consist of autoimmune pancreatitis (AIP) problem as well. This case report is an example of autoimmune polyglandular syndrome (APS), which was connected with the surgical treatment with biliary bypass anastomosis because of the unresectable lesion in the head of pancreas. The definite remission of the pancreatic lesion finally came after a steroid therapy. Differentiation between neoplastic and inflammatory pancreatic tumors very often remains a serious clinical problem. On grounds of imaging and cytopathology exams it is often difficult to decide about the nature of a lesion. The negative result of cytopathological biopsy examination does not finally settle straightforward diagnosis. Diagnostic problems affect also autoimmune pancreatitis. It is worth to undertake attempts to differentiate pancreatic lesions especially in cases of concomitance with other autoimmune polyglandular syndromes. That is because it is connected with completely different treatment and outcome. We should remember about diagnostic criteria of autoimmune pancreatitis. Appropriate diagnosis for patients with AIP gives them a chance to avoid serious surgical resection and possible complications.

  19. Autoimmune Inner Ear Disease (AIED)

    Science.gov (United States)

    ... to order. Mention “VEDA” to receive a 15% discount. Paid Advertisement Disclaimer Information on this website is ... treatment of autoimmune inner ear disease. Although drug companies are not directly studying treatments for inner ear ...

  20. Autoimmune Hepatitis and PSC Connection.

    Science.gov (United States)

    Vergani, Diego; Mieli-Vergani, Giorgina

    2008-02-01

    This article describes the connection between autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC). The two conditions have chronicity, liver inflammation, and a positive autoimmune serology in common; they differ in terms of gender distribution and bile duct damage. There is evidence suggesting that AIH and PSC are immune-mediated diseases. PSC and AIH could lie within the spectrum of the same disease process. Future studies should determine how frequently AIH evolves to PSC.

  1. Endocrine autoimmunity in Turner syndrome

    OpenAIRE

    Grossi, Armando; Crinò, Antonino; Luciano, Rosa; Lombardo, Antonietta; Cappa, Marco; Fierabracci, Alessandra

    2013-01-01

    Background Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. Methods Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and t...

  2. Psoriasis and autoimmune skin diseases

    Directory of Open Access Journals (Sweden)

    Poljački Mirjana N.

    2002-01-01

    Full Text Available Introduction Presuming that psoriasis is an autoimmune skin disease, the aim of this study was to establish its association with other autoimmune skin diseases. The material was obtained at the Dermatovenereological Clinic Clinical Center Novi Sad. Material and methods This 10-year retrospective study (1990-1999 included 1743 psoriasis patients. The control group consisted of 7492 nonpsoriatic dermatological patients. Results Association of psoriasis with other dermatological diseases of autoimmune nature has been established in 13 (0.74 % patients. The most frequent association was with lichen ruber planus in five patients, with alopecia areata and vitiligo in three patients, and in one with bullous pemphigoid and herpetiform dermatitis. Using Fisher's test no significant association was established. Discussion and conclusion According to literature data association of psoriasis with other autoimmune diseases is well known, but rare, which is in accordance with our results. The question arises whether this association is the matter of poor coexistence or the matter of genetic mutations. However, once established, these associations can further highlight the autoimmune nature of psoriasis. The research of autoimmunity would lead us to epithelial cells in thymus, and their badly learnt cognitive function about what is own, and what is not.

  3. HEPARANASE AND AUTOIMMUNE DIABETES

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    Charmaine Joy Simeonovic

    2013-12-01

    Full Text Available Heparanase (Hpse is the only known mammalian endo-β-D-glucuronidase that degrades the glycosaminoglycan heparan sulfate (HS, found attached to the core proteins of heparan sulfate proteoglycans (HSPGs. Hpse plays a homeostatic role in regulating the turnover of cell-associated HS and also degrades extracellular HS in basement membranes (BMs and the extracellular matrix (ECM, where HSPGs function as a barrier to cell migration. Secreted Hpse is harnessed by leukocytes to facilitate their migration from the blood to sites of inflammation. In the non-obese diabetic (NOD model of autoimmune Type 1 diabetes (T1D, Hpse is also used by insulitis leukocytes to solubilize the islet BM to enable intra-islet entry of leukocytes and to degrade intracellular HS, an essential component for the survival of insulin-producing islet beta cells. Treatment of prediabetic adult NOD mice with the Hpse inhibitor PI-88 significantly reduced the incidence of T1D by ~50% and preserved islet HS. Hpse therefore acts as a novel immune effector mechanism in T1D. Our studies have identified T1D as a Hpse-dependent disease and Hpse inhibitors as novel therapeutics for preventing T1D progression and possibly the development of T1D vascular complications.

  4. A rare presentation of hypopituitarism in hepatic overlap syndrome of autoimmune hepatitis and autoimmune cholangitis

    OpenAIRE

    Gupta V; Singh H.; Talapatra P; Ray S

    2016-01-01

    Autoimmune cholangitis is the antimitochondrial antibody-negative autoimmune hepatopathy with clinical and histological features similar to that of primary biliary cirrhosis. Autoimmune cholangitis has a predominant cholestatic phase. However, transaminasemia might be dominant in certain patients, indicating associated autoimmune hepatitis. Such an autoimmune hepatopathy has been termed as hepatic overlap syndrome. Due to the autoimmune nature of the disease, associated diseases of other orga...

  5. The multiple autoimmune syndromes. A clue for the autoimmune tautology.

    Science.gov (United States)

    Anaya, Juan-Manuel; Castiblanco, John; Rojas-Villarraga, Adriana; Pineda-Tamayo, Ricardo; Levy, Roger A; Gómez-Puerta, José; Dias, Carlos; Mantilla, Ruben D; Gallo, Juan Esteban; Cervera, Ricard; Shoenfeld, Yehuda; Arcos-Burgos, Mauricio

    2012-12-01

    The multiple autoimmune syndromes (MAS) consist on the presence of three or more well-defined autoimmune diseases (ADs) in a single patient. The aim of this study was to analyze the clinical and genetic characteristics of a large series of patients with MAS. A cluster analysis and familial aggregation analysis of ADs was performed in 84 patients. A genome-wide microsatellite screen was performed in MAS families, and associated loci were investigated through the pedigree disequilibrium test. Systemic lupus erythematosus (SLE), autoimmune thyroid disease (AITD), and Sjögren's syndrome together were the most frequent ADs encountered. Three main clusters were established. Aggregation for type 1 diabetes, AITD, SLE, and all ADs as a trait was found. Eight loci associated with MAS were observed harboring autoimmunity genes. The MAS represent the best example of polyautoimmunity as well as the effect of a single genotype on diverse phenotypes. Its study provides important clues to elucidate the common mechanisms of ADs (i.e., autoimmune tautology).

  6. AUTOIMMUNE EPIDERMAL BLISTERING DISEASES

    Directory of Open Access Journals (Sweden)

    Ana Maria Abreu Velez

    2013-11-01

    Full Text Available Autoimmune bullous skin diseases (ABDs are uncommon, potentially fatal diseases of skin and mucous membranes which are associated with deposits of autoantibodies and complement against distinct molecules of the epidermis and dermal/epidermal basement membrane zone (BMZ. These autoantibodies lead to a loss in skin molecular integrity, which manifests clinically as formation of blisters or erosions. In pemphigus vulgaris, loss of adhesion occurs within the epidermis. The pioneering work of Ernst H. Beutner, Ph.D. and Robert E. Jordon, M.D. confirmed the autoimmune nature of these diseases. Walter F. Lever, M.D. contributed significantly to our understanding of the histopathologic features of these diseases. Walter Lever, M.D. and Ken Hashimoto, M.D. contributed electron microscopic studies of these diseases, especially in pemphigus vulgaris and bullous pemphigoid. In bullous pemphigoid (BP, linear IgA bullous dermatosis, epidermolysis bullosa acquisita (EBA and dermatitis herpetiformis (DH, loss of adhesion takes place within or underneath the BMZ. Classic EBA demonstrates extensive skin fragility; DH is commonly associated with gluten-sensitive enteropathy, and manifests clinically with pruritic papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The clinical spectrum of bullous pemphigoid includes tense blisters, urticarial plaques, and prurigo-like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy, and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a „cluster of jewels”-like pattern in childhood (chronic bullous disease of childhood and is more clinically heterogeneous in adulthood. Many of the autoantigens in these disorders are known and have been well characterized. ABDs may be influenced by both genetic and exogenous factors. The diagnoses of

  7. Estrogens and autoimmune diseases.

    Science.gov (United States)

    Cutolo, Maurizio; Capellino, Silvia; Sulli, Alberto; Serioli, Bruno; Secchi, Maria Elena; Villaggio, Barbara; Straub, Rainer H

    2006-11-01

    Sex hormones are implicated in the immune response, with estrogens as enhancers at least of the humoral immunity and androgens and progesterone (and glucocorticoids) as natural immune-suppressors . Several physiological, pathological, and therapeutic conditions may change the serum estrogen milieu and/or peripheral conversion rate, including the menstrual cycle, pregnancy, postpartum period, menopause, being elderly, chronic stress, altered circadian rhythms, inflammatory cytokines, and use of corticosteroids, oral contraceptives, and steroid hormonal replacements, inducing altered androgen/estrogen ratios and related effects. In particular, cortisol and melatonin circadian rhythms are altered, at least in rheumatoid arthritis (RA), and partially involve sex hormone circadian synthesis and levels as well. Abnormal regulation of aromatase activity (i.e., increased activity) by inflammatory cytokine production (i.e., TNF-alpha, IL-1, and IL-6) may partially explain the abnormalities of peripheral estrogen synthesis in RA (i.e., increased availability of 17-beta estradiol and possible metabolites in synovial fluids) and in systemic lupus erythematosus, as well as the altered serum sex-hormone levels and ratio (i.e., decreased androgens and DHEAS). In the synovial fluids of RA patients, the increased estrogen concentration is observed in both sexes and is more specifically characterized by the hydroxylated forms, in particular 16alpha-hydroxyestrone, which is a mitogenic and cell proliferative endogenous hormone. Local effects of sex hormones in autoimmune rheumatic diseases seems to consist mainly in modulation of cell proliferation and cytokine production (i.e., TNF-alpha, Il-1, IL-12). In this respect, it is interesting that male patients with RA seem to profit more from anti-TNFalpha strategies than do female patients. PMID:17261796

  8. Autoimmune hepatitis in association with lymphocytic colitis.

    LENUS (Irish Health Repository)

    Cronin, Edmond M

    2012-02-03

    Autoimmune hepatitis is a rare, chronic inflammatory disorder which has been associated with a number of other auto-immune conditions. However, there are no reports in the medical literature of an association with microscopic (lymphocytic) colitis. We report the case of a 53-year-old woman with several autoimmune conditions, including lymphocytic colitis, who presented with an acute hepatitis. On the basis of the clinical features, serology, and histopathology, we diagnosed autoimmune hepatitis. To our knowledge, this is the first report of autoimmune hepatitis in association with lymphocytic colitis, and lends support to the theory of an autoimmune etiology for lymphocytic colitis.

  9. Therapeutic apheresis in autoimmune diseases

    Directory of Open Access Journals (Sweden)

    Bambauer R

    2013-11-01

    Full Text Available Rolf Bambauer,1 Reinhard Latza,2 Carolin Bambauer,3 Daniel Burgard,4 Ralf Schiel5 1Institute for Blood Purification, Homburg, 2Laboratorium of Medicine, St Ingbert, 3Main Hospital Darmstadt, Darmstadt, 4Herz Zentrum, Cardiology, Völklingen, 5Inselklinik Heringsdorf GmbH, Seeheilbad Heringsdorf, Germany Abstract: Systemic autoimmune diseases based on an immune pathogenesis produce autoantibodies and circulating immune complexes, which cause inflammation in the tissues of various organs. In most cases, these diseases have a bad prognosis without treatment. Therapeutic apheresis in combination with immunosuppressive therapies has led to a steady increase in survival rates over the last 35 years. Here we provide an overview of the most important pathogenic aspects indicating that therapeutic apheresis can be a supportive therapy in some systemic autoimmune diseases, such as systemic lupus erythematosus, antiphospholipid syndrome, rheumatoid arthritis, and inflammatory eye disease. With the introduction of novel and effective biologic agents, therapeutic apheresis is indicated only in severe cases, such as in rapid progression despite immunosuppressive therapy and/or biologic agents, and in patients with renal involvement, acute generalized vasculitis, thrombocytopenia, leucopenia, pulmonary, cardiac, or cerebral involvement. In mild forms of autoimmune disease, treatment with immunosuppressive therapies and/or biologic agents seems to be sufficient. The prognosis of autoimmune diseases with varying organ manifestations has improved considerably in recent years, due in part to very aggressive therapy schemes. Keywords: therapeutic apheresis, autoimmune diseases, systemic lupus erythematosus, antiphospholipid syndrome, rheumatoid arthritis, inflammatory eye disease

  10. Autoimmune pancreatitis. An update

    International Nuclear Information System (INIS)

    Autoimmune pancreatitis (AIP) is a rare disease, the pathophysiological understanding of which has been greatly improved over the last years. The most common form, type 1 AIP belongs to the IgG4-related diseases and must be distinguished from type 2 AIP, which is a much rarer entity associated with chronic inflammatory bowel disease. Clinically, there is an overlap with pancreatic cancer. Imaging and further criteria, such as serological and histological parameters are utilized for a differentiation between both entities in order to select the appropriate therapy and to avoid the small but ultimately unnecessary number of pancreatectomies. The diagnostics of AIP are complex, whereby the consensus criteria of the International Association of Pancreatology have become accepted as the parameters for discrimination. These encompass five cardinal criteria and one therapeutic criterion. By applying these criteria AIP can be diagnosed with a sensitivity of 84.9 %, a specificity of 100 % and an accuracy of 93.8 %. The diagnosis of AIP is accomplished by applying several parameters of which two relate to imaging. As for the routine diagnostics of the pancreas these are ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI). Important for the differential diagnosis is the exclusion of signs of local and remote tumor spread for which CT and MRI are established. The essential diagnostic parameter of histology necessitates sufficient sample material, which cannot usually be acquired by a fine needle biopsy. CT or MRI are the reference standard methods for identification of the optimal puncture site and imaging-assisted (TruCut) biopsy. In patients presenting with unspecific upper abdominal pain, painless jaundice combined with the suspicion of a pancreatic malignancy in imaging but a mismatch of secondary signs of malignancy, AIP should also be considered as a differential diagnosis. As the diagnosis of AIP only partially relies on imaging radiologists also

  11. Type 1 autoimmune pancreatitis

    Directory of Open Access Journals (Sweden)

    Zen Yoh

    2011-12-01

    Full Text Available Abstract Before the concept of autoimmune pancreatitis (AIP was established, this form of pancreatitis had been recognized as lymphoplasmacytic sclerosing pancreatitis or non-alcoholic duct destructive chronic pancreatitis based on unique histological features. With the discovery in 2001 that serum IgG4 concentrations are specifically elevated in AIP patients, this emerging entity has been more widely accepted. Classical cases of AIP are now called type 1 as another distinct subtype (type 2 AIP has been identified. Type 1 AIP, which accounts for 2% of chronic pancreatitis cases, predominantly affects adult males. Patients usually present with obstructive jaundice due to enlargement of the pancreatic head or thickening of the lower bile duct wall. Pancreatic cancer is the leading differential diagnosis for which serological, imaging, and histological examinations need to be considered. Serologically, an elevated level of IgG4 is the most sensitive and specific finding. Imaging features include irregular narrowing of the pancreatic duct, diffuse or focal enlargement of the pancreas, a peri-pancreatic capsule-like rim, and enhancement at the late phase of contrast-enhanced images. Biopsy or surgical specimens show diffuse lymphoplasmacytic infiltration containing many IgG4+ plasma cells, storiform fibrosis, and obliterative phlebitis. A dramatic response to steroid therapy is another characteristic, and serological or radiological effects are normally identified within the first 2 or 3 weeks. Type 1 AIP is estimated as a pancreatic manifestation of systemic IgG4-related disease based on the fact that synchronous or metachronous lesions can develop in multiple organs (e.g. bile duct, salivary/lacrimal glands, retroperitoneum, artery, lung, and kidney and those lesions are histologically identical irrespective of the organ of origin. Several potential autoantigens have been identified so far. A Th2-dominant immune reaction and the activation of

  12. [Infectious agents and autoimmune diseases].

    Science.gov (United States)

    Riebeling-Navarro, C; Madrid-Marina, V; Camarena-Medellín, B E; Peralta-Zaragoza, O; Barrera, R

    1992-01-01

    In this paper the molecular aspects of the relationships between infectious agents and autoimmune diseases, the mechanisms of immune response to infectious agents, and the more recent hypotheses regarding the cause of autoimmune diseases are discussed. The antigens are processed and selected by their immunogenicity, and presented by HLA molecules to the T cell receptor. These events initiate the immune response with the activation and proliferation of T-lymphocytes. Although there are several hypotheses regarding the cause of autoimmune diseases and too many findings against and in favor of them, there is still no conclusive data. All these hypothesis and findings are discussed in the context of the more recent advances. PMID:1615352

  13. PD-1, gender, and autoimmunity

    Science.gov (United States)

    Dinesh, Ravi K.; Hahn, Bevra H.; Singh, Ram Pyare

    2010-01-01

    Programmed death 1 (PD-1) and its ligands (PD-L1 and PD-L2) are responsible for inhibitory T cell signaling that helps mediate the mechanisms of tolerance and immune homeostasis. The PD-1:PD-L signaling pathway has been shown to play an important role in a variety of diseases, including autoimmune conditions, chronic infection, and cancer. Recently, investigators have explored the role of sex hormones in modulating the pathway in autoimmune conditions. Exploring the effects of sex hormones on the PD-1:PD-L pathway could shed light on the gender biased nature of many autoimmune conditions as well as aide in the development of therapeutics targeting the immune system. PMID:20433954

  14. Autoimmunity in chronic lymphocytic leukaemia.

    Science.gov (United States)

    Lischner, M; Prokocimer, M; Zolberg, A; Shaklai, M

    1988-08-01

    Seventy-nine patients with chronic lymphocytic leukaemia were evaluated for the presence of autoimmune diseases and autoantibodies. One patient has polymyositis and two additional patients presented with features suggestive of pernicious anaemia and chronic active hepatitis. The Coombs' direct test was positive in 7% and immune thrombocytopenia was present in 8.1% of patients. Five (7%) patients had M-protein in the serum. No increased frequency of other autoantibodies was noted in our study group. We conclude that the propensity to develop antibodies is restricted only to the haematopoietic system and that there is no increased frequency of non-haematological autoimmune diseases in chronic lymphatic leukaemia. PMID:3249703

  15. Coeliac disease with autoimmune haemolytic anaemia.

    OpenAIRE

    Miller, D. G.

    1984-01-01

    Two patients are described who have developed autoimmune haemolytic anaemia in association with their coeliac disease. Autoimmune haemolytic anaemia may represent an extension of immunological disorders linked with coeliac disease, centred on the histocompatibility antigen B8.

  16. Autoimmune Skin Diseases in the Dog

    OpenAIRE

    Parker, W M

    1981-01-01

    Diagnoses of autoimmune skin diseases require very careful observation of the skin lesions, and selection of an intact vesicle for histopathological examination. If available, immunofluorescent studies can be very useful in confirming the diagnosis of autoimmune skin disease. Seven autoimmune skin diseases are briefly reviewed. Therapy must be aggressive and owner warned of the guarded prognosis.

  17. Pancreatic Tuberculosis or Autoimmune Pancreatitis

    OpenAIRE

    Ayesha Salahuddin; Muhammad Wasif Saif

    2014-01-01

    Introduction. Isolated pancreatic and peripancreatic tuberculosis is a challenging diagnosis due to its rarity and variable presentation. Pancreatic tuberculosis can mimic pancreatic carcinoma. Similarly, autoimmune pancreatitis can appear as a focal lesion resembling pancreatic malignancy. Endoscopic ultrasound-guided fine needle aspiration provides an effective tool for differentiating between benign and malignant pancreatic lesions. The immune processes involved in immunoglobulin G4 relate...

  18. Autoimmune Epilepsy Guidelines for Diagnosis

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators at the Children’s Hospital at Westmead, University of Sydney, Australia, and John Radcliffe Hospital, Oxford, UK, describe 13 children (11 female; mean age 6 years, range 1-13 years) seen over a period of 3.5 years with suspected autoimmune epilepsy.

  19. Autoimmune Epilepsy Guidelines for Diagnosis

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-08-01

    Full Text Available Investigators at the Children’s Hospital at Westmead, University of Sydney, Australia, and John Radcliffe Hospital, Oxford, UK, describe 13 children (11 female; mean age 6 years, range 1-13 years seen over a period of 3.5 years with suspected autoimmune epilepsy.

  20. American Autoimmune Related Diseases Association

    Science.gov (United States)

    ... to navigate the health-care system in the age of the Affordable Care Act. News in the world of AARDA’s Grassroots ... was the “Status of Autoimmune Disease in the Age of the Affordable Care Act. Watch the briefing video View the power ...

  1. Therapeutic apheresis in autoimmune diseases

    Science.gov (United States)

    Bambauer, Rolf; Latza, Reinhard; Bambauer, Carolin; Burgard, Daniel; Schiel, Ralf

    2013-01-01

    Systemic autoimmune diseases based on an immune pathogenesis produce autoantibodies and circulating immune complexes, which cause inflammation in the tissues of various organs. In most cases, these diseases have a bad prognosis without treatment. Therapeutic apheresis in combination with immunosuppressive therapies has led to a steady increase in survival rates over the last 35 years. Here we provide an overview of the most important pathogenic aspects indicating that therapeutic apheresis can be a supportive therapy in some systemic autoimmune diseases, such as systemic lupus erythematosus, antiphospholipid syndrome, rheumatoid arthritis, and inflammatory eye disease. With the introduction of novel and effective biologic agents, therapeutic apheresis is indicated only in severe cases, such as in rapid progression despite immunosuppressive therapy and/or biologic agents, and in patients with renal involvement, acute generalized vasculitis, thrombocytopenia, leucopenia, pulmonary, cardiac, or cerebral involvement. In mild forms of autoimmune disease, treatment with immunosuppressive therapies and/or biologic agents seems to be sufficient. The prognosis of autoimmune diseases with varying organ manifestations has improved considerably in recent years, due in part to very aggressive therapy schemes.

  2. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21

    OpenAIRE

    Aaltonen, Johanna; Björses, Petra; Sandkuijl, Lodewijk; Perheentupa, Jaakko; Peltonen, Leena Johanna

    1994-01-01

    textabstractAutoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many other autoimmune diseases, APECED does not show association to specific HLA haplotypes. Unravelling the APECED locus will identify a novel gene outside the HLA loci influencing the outcome of autoimmune diseases. We have assigned the di...

  3. Genetics Home Reference: congenital myasthenic syndrome

    Science.gov (United States)

    ... Advocacy Resources (2 links) Muscular Dystrophy Association Myasthenia Gravis Foundation of America: Congenital Myasthenia GeneReviews (1 link) ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  4. Things to Consider If You Have MG and Are Thinking about Getting Pregnant

    Science.gov (United States)

    ... you Have MG and Are Thinking About Getting Pregnant Myasthenia Gravis Foundation of America, Inc. www.myasthenia. ... that women with MG who are considering getting pregnant discuss pregnancy with the care giver treating their ...

  5. Muscular disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930603 Ultrastructural study of the thymus inpatients with myasthenia gravis.LI Shixiao(李世校),et al.Henan Med Univ,Zhengzhou,450052.Chin J Intern Med 1993;32(5):310-311.The ultrastructure of the thymus gland fromten patients with myasthenia gravis was studiedand compared with that from three normal sub-jects.Thymic tissue in myasthenia gravis showedinflammatory reaction chracterized by presence ofneutrophils and macrophages,plasma cell infil-tration,epithelial reticular cell hyperplasia,and

  6. Anestesia venosa total para timectomia em paciente com Miastenia Gravis: relato de caso

    Directory of Open Access Journals (Sweden)

    Rezer Gabrielle

    2003-01-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: Pacientes com doenças neuromusculares, como Miastenia Gravis, respondem de maneira anormal aos anestésicos, conforme a técnica e as drogas administradas. O objetivo deste relato é mostrar um caso de paciente portadora de Miastenia Gravis, submetida a timectomia sob anestesia venosa total com propofol e remifentanil. RELATO DO CASO: Paciente feminina, 52 anos, 72 kg, com história de Miastenia Gravis submetida a timectomia transesternal, sob anestesia venosa total, com o uso de propofol em infusão alvo controlada (3 g.ml-1 e remifentanil contínuo (0,3 µg.kg-1.min-1. Para a intubação traqueal foi utilizada succinilcolina (50 mg, sendo realizada sem dificuldade. Com a finalidade de realizar a analgesia pós-operatória, foram utilizados tramadol (50 mg, cetoprofeno (100 mg e dipirona (1 g, no per-operatório. Após a cirurgia, a infusão de propofol e remifentanil foi encerrada e, 15 minutos depois, a paciente foi extubada. A paciente apresentava-se eupnéica, acordada, sem dor, movimentando membros, com freqüência respiratória de 14 mpm e mantendo saturação de oxigênio de 97%. Permaneceu com cateter nasal de O2 a 2 L.min-1 na UTI intermediária, durante 36 horas, e recebeu alta hospitalar no 4º dia do pós-operatório. CONCLUSÕES: A anestesia venosa total, com agentes anestésicos de curta duração e sem metabólitos ativos, favoreceu a recuperação e a extubação precoce da paciente

  7. Mitochondrial Myopathies

    Science.gov (United States)

    ... Dermatomyositis Inclusion-body myositis Diseases of Neuromuscular Junction Myasthenia gravis Lambert-Eaton (myasthenic) syndrome Congenital myasthenic syndromes Diseases of Peripheral Nerve Charcot-Marie- ...

  8. Genetics and Neuromuscular Diseases

    Science.gov (United States)

    ... Dermatomyositis Inclusion-body myositis Diseases of Neuromuscular Junction Myasthenia gravis Lambert-Eaton (myasthenic) syndrome Congenital myasthenic syndromes Diseases of Peripheral Nerve Charcot-Marie- ...

  9. Facts About Plasmapheresis

    Science.gov (United States)

    ... Dermatomyositis Inclusion-body myositis Diseases of Neuromuscular Junction Myasthenia gravis Lambert-Eaton (myasthenic) syndrome Congenital myasthenic syndromes Diseases of Peripheral Nerve Charcot-Marie- ...

  10. Evaluación de la calidad de vida en pacientes con miastenia gravis

    OpenAIRE

    Hoyos Cerón, Johan Alejandro

    2014-01-01

    Introducción: La Fundación Americana de Miastenia Gravis ha estandarizado las medidas objetivas a aplicar en los ensayos clínicos, para obtener resultados mas confiables. También en términos de calidad de vida parce haber un principio de estandarización a partir del trabajo de Burns con el MGQOL15, sin embargo este puede no ser aplicable a la población colombiana por las características socioeconómicas particulares de la población, el conflicto interno y las limitaciones del sistema de salud,...

  11. Historical reflections on autoimmune hepatitis

    Institute of Scientific and Technical Information of China (English)

    Ian R Mackay

    2008-01-01

    Autoimmune hepatitis (AIH),initially known as chronic active or active chronic hepatitis (and by various other names),first came under clinical notice in the late 1940s.However,quite likely,chronic active hepatitis (CAH) had been observed prior to this and was attributed to a persistently destructive virus infection of the liver.An earlier (and controversial) designation in 1956 as lupoid hepatitis was derived from associated L.E.cell test positivity and emphasized accompanying multisystem features and immunological aberrations.Young women featured prominently in early descriptions of CAH.AIH was first applied in 1965 as a descriptive term.Disease-characteristic autoantibodies were defined from the early 1960s,notably antinuclear antibody (ANA),smooth muscle antibody (SMA) and liver-kidney microsomal (LKM) antibody.These are still widely used diagnostically but their relationship to pathogenesis is still not evident.A liver and disease specific autoantigen has long been searched for but unsuccessfully.Prolonged immunosuppressive therapy with predisolone and azathioprine in the 1960s proved beneficial and remains standard therapy today.AIH like many other autoimmune diseases is associated with particular HLA alleles especially with the "ancestral" B8,DR3 haplotype,and also with DR4.Looking forwards,AIH is one of the several enigmatic autoimmune diseases that,despite being (relatively) organ specific,are marked by autoimmune reactivities with non-organ-specific autoantigens.New paradigms are needed to explain the occurrence,expressions and pathogenesis of such diseases.

  12. Autoimmunity: Experimental and clinical aspects

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, R.S.; Rose, N.R.

    1986-01-01

    This book contains five parts and a section of poster papers. Each part contains several papers. Some of the papers are: Molecular Genetics and T Cells in Autoimmunity; Gene Conversion: A Mechanism to Explain HLA-D Region and Disease Association; Genetics of the Complement System; Speculation on the Role of Somatic Mutation in the Generation of Anti-DNA Antibodies; and Monoclonal Anti-DNA Antibodies: The Targets and Origins of SLE.

  13. Cystic Lesions in Autoimmune Pancreatitis

    OpenAIRE

    Gompertz, Macarena; Morales, Claudia; Aldana, Hernán; Castillo, Jaime; Berger, Zoltán

    2015-01-01

    Autoimmune pancreatitis (AIP) can be chronic or recurrent, but frequently completely reversible after steroid treatment. A cystic lesion in AIP is a rare finding, and it can mimic a pancreatic cystic neoplasm. Difficulties in an exact diagnosis interfere with treatment, and surgery cannot be avoided in some cases. We report the history of a 63-year-old male presenting with jaundice and pruritus. AIP was confirmed by imaging and elevated IgG4 blood levels, and the patient completely recovered ...

  14. Autoimmunity in chronic lymphocytic leukaemia.

    OpenAIRE

    Lischner, M.; Prokocimer, M.; Zolberg, A.; Shaklai, M.

    1988-01-01

    Seventy-nine patients with chronic lymphocytic leukaemia were evaluated for the presence of autoimmune diseases and autoantibodies. One patient has polymyositis and two additional patients presented with features suggestive of pernicious anaemia and chronic active hepatitis. The Coombs' direct test was positive in 7% and immune thrombocytopenia was present in 8.1% of patients. Five (7%) patients had M-protein in the serum. No increased frequency of other autoantibodies was noted in our study ...

  15. Historical reflections on autoimmune hepatitis

    OpenAIRE

    Mackay, Ian R.

    2008-01-01

    Autoimmune hepatitis (AIH), initially known as chronic active or active chronic hepatitis (and by various other names), first came under clinical notice in the late 1940s. However, quite likely, chronic active hepatitis (CAH) had been observed prior to this and was attributed to a persistently destructive virus infection of the liver. An earlier (and controversial) designation in 1956 as lupoid hepatitis was derived from associated L.E. cell test positivity and emphasized accompanying multisy...

  16. Pancreatic Tuberculosis or Autoimmune Pancreatitis

    Directory of Open Access Journals (Sweden)

    Ayesha Salahuddin

    2014-01-01

    Full Text Available Introduction. Isolated pancreatic and peripancreatic tuberculosis is a challenging diagnosis due to its rarity and variable presentation. Pancreatic tuberculosis can mimic pancreatic carcinoma. Similarly, autoimmune pancreatitis can appear as a focal lesion resembling pancreatic malignancy. Endoscopic ultrasound-guided fine needle aspiration provides an effective tool for differentiating between benign and malignant pancreatic lesions. The immune processes involved in immunoglobulin G4 related systemic diseases and tuberculosis appear to have some similarities. Case Report. We report a case of a 59-year-old Southeast Asian male who presented with fever, weight loss, and obstructive jaundice. CT scan revealed pancreatic mass and enlarged peripancreatic lymph nodes. Endoscopic ultrasound-guided fine needle aspiration confirmed the presence of mycobacterium tuberculosis. Patient also had high immunoglobulin G4 levels suggestive of autoimmune pancreatitis. He was started on antituberculosis medications and steroids. Clinically, he responded to treatment. Follow-up imaging showed findings suggestive of chronic pancreatitis. Discussion. Pancreatic tuberculosis and autoimmune pancreatitis can mimic pancreatic malignancy. Accurate diagnosis is imperative as unnecessary surgical intervention can be avoided. Endoscopic ultrasound-guided fine needle aspiration seems to be the diagnostic test of choice for pancreatic masses. Long-term follow-up is warranted in cases of chronic pancreatitis.

  17. [Autoimmune hepatitis induced by isotretionine].

    Science.gov (United States)

    Guzman Rojas, Patricia; Gallegos Lopez, Roxana; Ciliotta Chehade, Alessandra; Scavino, Yolanda; Morales, Alejandro; Tagle, Martín

    2016-01-01

    We describe a case of a teenage patient with the diagnosis of drug induced autoimmune hepatitis. The patient is a 16 years old female, with the past medical history of Hashimoto’s hypothyroidism controlled with levothyroxine, who started treatment with Isotretionin (®Accutane) 20 mg q/12 hours for a total of 3 months for the treatment of severe acne. The physical examination was within normal limits and the results of the laboratory exams are: Baseline values of ALT 28 U/L, AST 28 U/L. Three months later: AST 756 U/L, ALT 1199U/L, alkaline phosphatase 114 U/L, with normal bilirrubin levels throughout the process. The serology studies were negative for all viral hepatitis; ANA titers were positive (1/160) and igG levels were also elevated. A liver biopsy was performed, and was compatible with the diagnosis of autoimmune hepatitis. Corticosteroid therapy was started with Prednisone 40 mg per day one week after stopping the treatment with isotretionin, observing an improvement in the laboratory values. We describe this case and review the world literature since there are no reported cases of Isotretinoin-induced autoimmune hepatitis. PMID:27131947

  18. [Pulmonary arterial hypertension: a flavor of autoimmunity].

    Science.gov (United States)

    Perros, Frédéric; Humbert, Marc; Cohen-Kaminsky, Sylvia

    2013-01-01

    It is admitted that autoimmunity results from a combination of risks such as genetic background, environmental triggers, and stochastic events. Pulmonary arterial hypertension (PAH) shares with the so-called prototypic autoimmune diseases, genetic risk factors, female predominance and sex hormone influence, association with other chronic inflammatory and autoimmune diseases, defects in regulatory T cells function, and presence of autoantibodies. Case reports have been published indicating the beneficial effect of some immunosuppressive and anti-inflammatory therapies in PAH, supporting the potential role of immune mechanisms in the pathophysiology of the disease. In this review, we discuss the current knowledge on autoimmune mechanisms operating in PAH, especially mounting a local autoimmune response inside the pulmonary tissue, namely pulmonary lymphoid neogenesis. A better understanding of the role of autoimmunity in pulmonary vascular remodelling may help develop targeted immunomodulatory strategies in PAH. PMID:23859515

  19. Pathogenesis of Autoimmune Diseases: A Short Review

    Directory of Open Access Journals (Sweden)

    Jithin Jose

    2014-01-01

    Full Text Available Autoimmunity is characterized by the reaction of cells (auto reactive T-lymphocytes or products (autoantibodies of the immune system against the organism’s own antigens (autoantigen. It may be part of the physiological immune response (natural autoimmunity or pathologically induced, which may eventually lead to development of clinical abnormalities (autoimmune disease. Different mechanisms are involved in the induction and progression of autoimmunity. These include genetic or acquired defects in immune tolerance or immune regulatory pathways, molecular mimicry to viral or bacterial protein, an impaired clearance of apoptotic cell material. A A number of diseases have been identified in which there is autoimmunity, due to copious production of autoantibodies and autoreactive cells. The aim of the present article is to review on the pathogenesis of autoimmune diseases.

  20. Planck Scale Physics, Gravi-Weak Unification and the Higgs Inflation

    CERN Document Server

    Laperashvili, L V; Sidharth, B G

    2015-01-01

    Starting with a theory of the discrete space-time at the Planck scale, we developed a Gravi-Weak Unification (GWU) - a $Spin(4,4)$-invariant model unified gravity with weak $SU(2)$ gauge and Higgs fields in the visible and invisible sectors of the Universe. Considering the Gravi-Weak symmetry breaking, we showed that the obtained sub-algebras contain the self-dual left-handed gravity in the OW, and the anti-self-dual right-handed gravity in the MW. Finally, at the low energy limit, we have only the Standard Model (SM) and the Einstein-Hilbert's gravity. The Froggatt-Nielsen's prediction of the top-quark and Higgs masses was given in the assumption that there exist two degenerate vacua in the SM. This prediction was improved by the next order calculations. We have developed a model of the Higgs Inflation using the GWU action. According to this inflationary model, a scalar field (inflaton) starts trapped from the "false vacuum" of the Universe at the Higgs field's VEV $v_2 \\sim 10^{18}$ GeV. The interaction bet...

  1. Autoimmune diseases associated with neurofibromatosis type 1.

    Science.gov (United States)

    Nanda, Arti

    2008-01-01

    Associations of autoimmune diseases with neurofibromatosis type 1 have been rarely described. In the present report, we describe two patients of neurofibromatosis type 1 having an association with vitiligo in one, and alopecia areata and autoimmune thyroiditis in another. The associations of neurofibromatosis type 1 with vitiligo, alopecia areata, and autoimmune thyroiditis have not been reported earlier. Whether these associations reflect a causal relationship with neurofibromatosis type 1 or are coincidental needs to be settled.

  2. Microbiota at the crossroads of autoimmunity.

    Science.gov (United States)

    Shamriz, Oded; Mizrahi, Hila; Werbner, Michal; Shoenfeld, Yehuda; Avni, Orly; Koren, Omry

    2016-09-01

    Autoimmune diseases have a multifactorial etiology including genetic and environmental factors. Recently, there has been increased appreciation of the critical involvement of the microbiota in the pathogenesis of autoimmunity, although in many cases, the cause and the consequence are not easy to distinguish. Here, we suggest that many of the known cues affecting the function of the immune system, such as genetics, gender, pregnancy and diet, which are consequently involved in autoimmunity, exert their effects by influencing, at least in part, the microbiota composition and activity. This, in turn, modulates the immune response in a way that increases the risk for autoimmunity in predisposed individuals. We further discuss current microbiota-based therapies.

  3. Modulation of autoimmunity with artificial peptides

    Science.gov (United States)

    La Cava, Antonio

    2010-01-01

    The loss of immune tolerance to self antigens leads to the development of autoimmune responses. Since self antigens are often multiple and/or their sequences may not be known, one approach to restore immune tolerance uses synthetic artificial peptides that interfere or compete with self peptides in the networks of cellular interactions that drive the autoimmune process. This review describes the rationale behind the use of artificial peptides in autoimmunity and their mechanisms of action. Examples of use of artificial peptides in preclinical studies and in the management of human autoimmune diseases are provided. PMID:20807590

  4. Abdominal manifestations of autoimmune disorders

    International Nuclear Information System (INIS)

    Full text: Immunoglobulin G4-related disease was recognized as a systemic disease since various extrapancreatic lesions were observed in patients with autoimmune pancreatitis (AIP). The real etiology and pathogenesis of IgG4-RD is still not clearly understood. Moreover the exact role of IgG4 or IgG4-positive plasma cells in this disease has not yet been elucidated. only some inconsistent biological features such as hypergammaglobulinemia or hypocomplementemia support the autoimmune nature of the disease process. various names have been ascribed to this clinicopathological entity including IgG4-related sclerosing disease, IgG4-related systemic sclerosing disease, IgG4-related disease, IgG4-related autoimmune disease, hyper-IgG4 disease and IgG4-related systemic disease. The extrapancreatic lesions of IgG4-RD also exhibit the same characteristic histologic features including dense lymphoplasmacytic infiltrate, massive storiform fibrosis, and obliterative phlebitis as seen in IgG4-related pancreatitis. Abdominal manifestations include the following organs/systems: Bile ducts: Sclerosing cholangitis; Gallbladder and liver: Acalculous sclerosis cholecytitis with diffuse wall thickening; hepatic inflammatory pseudotumorts; Kidneys: round or wedge-shaped renal cortical nodules, peripheral cortical; lesions, mass like lesions or renal pelvic involvement; Prostate, urethra, seminal vesicle, vas deferens, uterine cervix; Autoimmune prostatitis; Retroperitoneum: Retroperitoneal fibrosis. thin or mildly thick homogeneous soft tissue lesion surrounding the abdominal aorta and its branches but also bulky masses causing hydronephroureterosis; Mesentery: Sclerosing mesenteritis usually involving the root of the mesentery; Bowel: Inflammatory bowel diseases mimicking Crohn’s disease or ulcerative colitis. various types of sclerosing nodular lesions of the bowel wall; Stomach: Gastritis, gastric ulcers and focal masses mimicking submucosal tumor; omentum: Infiltration mimicking

  5. The Emerging Link Between Autoimmune Disorders and Neuropsychiatric Disease

    OpenAIRE

    Kayser, Matthew S; Dalmau, Josep

    2011-01-01

    Abnormal autoimmune activity has been implicated in a number of neuropsychiatric disorders. In this review, the authors discuss a newly recognized class of synaptic autoimmune encephalitides as well as behavioral and cognitive manifestations of systemic autoimmune diseases.

  6. Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature

    Directory of Open Access Journals (Sweden)

    Zeyaur Rahman Azad

    2013-01-01

    Full Text Available Congenital myasthenic syndromes (CMS are frequently misdiagnosed due to their wide clinical heterogeneity. Molecular defects in various end-plate associated proteins are being identified. Better understanding of the molecular pathogenesis and genotype-phenotype correlations can help evolve newer therapeutic targets. We present a report of two siblings with familial limb girdle myasthenia who showed significant objective clinical improvement after initiation of terbutaline. The possible mechanism of action and utility of terbutaline in the setting of CMS are described. Terbutaline is a potential treatment option in certain subtypes of CMS refractory to conventional medicines. However, long-term follow-up is required to determine the overall efficacy and safety profile.

  7. Autoimmune polyglandular syndrome type 2 - a case report

    OpenAIRE

    Bănică Diana; Frăţilă Ramona; Sima Alexandra; Vlad Adrian; Timar Romulus

    2014-01-01

    Autoimmune polyglandular syndromes are characterized by the association of two or more autoimmune diseases. They are classified into two major subtypes, each having its own characteristics. The autoimmune polyglandular syndrome type 2 is defined by the presence of at least two of the following diseases: Addison’s disease, type 1 diabetes mellitus and thyroid autoimmune disease. Other autoimmune diseases belonging to the autoimmune polyglandular syndrome type 2 are: primary hypogonadism, myast...

  8. Risk Factors for Autoimmune Diseases Development After Thrombotic Thrombocytopenic Purpura

    OpenAIRE

    Roriz, Mélanie; Landais, Mickael; Desprez, Jonathan; Barbet, Christelle; Azoulay, Elie; Galicier, Lionel; Wynckel, Alain; Baudel, Jean-luc; Provôt, François; Pène, Frédéric; Mira, Jean-Paul; Presne, Claire; Poullin, Pascale; Delmas, Yahsou; Kanouni, Tarik

    2015-01-01

    Abstract Autoimmune thrombotic thrombocytopenic purpura (TTP) can be associated with other autoimmune disorders, but their prevalence following autoimmune TTP remains unknown. To assess the prevalence of autoimmune disorders associated with TTP and to determine risk factors for and the time course of the development of an autoimmune disorder after a TTP episode, we performed a cross sectional study. Two-hundred sixty-one cases of autoimmune TTP were included in the French Reference Center reg...

  9. Propylthiouracil-induced autoimmune disease

    Directory of Open Access Journals (Sweden)

    Santosh Paiaulla

    2015-01-01

    Full Text Available Hyperthyroidism is a condition characterized by excessive production of thyroid hormones. Propylthiouracil (PTU is commonly used as first line drug in the management of hyperthyroidism. This is a case report of 24-year-old female, a known case of hyperthyroidism since 4 years, who came with a history of fever and myalgia since 3 days and dyspnea with coughing out of blood since 1 day. Patient was taking PTU (100 mg per day since 4 years for hyperthyroidism. Patient was immediately intubated for type-II respiratory failure. Diagnosed to be having PTU-induced autoimmune disease. PTU was stopped and treated with methylprednisolone and cyclophosphamide. Clinical features improved over a period of 8 days and discharged home successfully. Having a high suspicion for the onset of autoimmune disease in hyperthyroidism patients who are on PTU therapy and timely treatment with immunosuppressants and supportive care along with the withdrawal of the drug can make a difference in morbidity and mortality.

  10. Cystic Lesions in Autoimmune Pancreatitis

    Directory of Open Access Journals (Sweden)

    Macarena Gompertz

    2015-11-01

    Full Text Available Autoimmune pancreatitis (AIP can be chronic or recurrent, but frequently completely reversible after steroid treatment. A cystic lesion in AIP is a rare finding, and it can mimic a pancreatic cystic neoplasm. Difficulties in an exact diagnosis interfere with treatment, and surgery cannot be avoided in some cases. We report the history of a 63-year-old male presenting with jaundice and pruritus. AIP was confirmed by imaging and elevated IgG4 blood levels, and the patient completely recovered after corticosteroid therapy. One year later, he presented with a recurrent episode of AIP with elevated IgG4 levels, accompanied by the appearance of multiple intrapancreatic cystic lesions. All but 1 of these cysts disappeared after steroid treatment, but the remaining cyst in the pancreatic head was even somewhat larger 1 year later. Pancreatoduodenectomy was finally performed. Histology showed the wall of the cystic lesion to be fibrotic; the surrounding pancreatic tissue presented fibrosis, atrophy and lymphoplasmacytic infiltration by IgG4-positive cells, without malignant elements. Our case illustrates the rare possibility that cystic lesions can be part of AIP. These pseudocysts appear in the pancreatic segments involved in the autoimmune disease and can be a consequence of the local inflammation or related to ductal strictures. Steroid treatment should be initiated, after which these cysts can completely disappear with recovery from AIP. Surgical intervention may be necessary in some exceptional cases.

  11. Gender and autoimmune comorbidity in multiple sclerosis

    DEFF Research Database (Denmark)

    Magyari, Melinda; Koch-Henriksen, Nils; Pfleger, Claudia C;

    2014-01-01

    BACKGROUND: The female preponderance in incidence of multiple sclerosis (MS) calls for investigations into sex differences in comorbidity with other autoimmune diseases (ADs). OBJECTIVES: To determine whether male and female patients with MS have a higher frequency of autoimmune comorbidity than...

  12. Autoimmune Pancreatitis Exhibiting Multiple Mass Lesions

    OpenAIRE

    Shiokawa, Masahiro; Kodama, Yuzo; Hiramatsu, Yukiko; Kurita, Akira; Sawai, Yugo; Uza, Norimitsu; Watanabe, Tomohiro; Chiba, Tsutomu

    2011-01-01

    Our case is a first report of autoimmune pancreatitis with multiple masses within the pancreas which was pathologically diagnosed by endoscopic ultrasound-guided fine needle aspiration and treated by steroid. The masses disappeared by steroid therapy. Our case is informative to know that autoimmune pancreatitis sometimes exhibits multiple masses within the pancreas and to diagnose it without unnecessary surgery.

  13. Autoimmune pancreatitis exhibiting multiple mass lesions.

    OpenAIRE

    Shiokawa, Masahiro; Kodama, Yuzo; Hiramatsu, Yukiko; Kurita, Akira; Sawai, Yugo; Uza, Norimitsu; Watanabe, Tomohiro; Chiba, Tsutomu

    2011-01-01

    Our case is a first report of autoimmune pancreatitis with multiple masses within the pancreas which was pathologically diagnosed by endoscopic ultrasound-guided fine needle aspiration and treated by steroid. The masses disappeared by steroid therapy. Our case is informative to know that autoimmune pancreatitis sometimes exhibits multiple masses within the pancreas and to diagnose it without unnecessary surgery.

  14. Epilepsy Associated with Systemic Autoimmune Disorders

    OpenAIRE

    Devinsky, Orrin; Schein, Adam; Najjar, Souhel

    2013-01-01

    Systemic autoimmune disorders affect multiple organ systems. Brain involvement commonly causes seizures, which may be the presenting symptom. Systemic lupus erythematosus, Sjorgren's syndrome, Wegener's granulomatosis, sarcoidsosis, celiac disease, Crohn's disease, Behcet's, and Hashimoto's encephalopathy are reviewed. Mechanisms underlying CNS pathology in systemic autoimmune disorders—and specifically factors predisposing these patients—are discussed, including vascular disease (e.g., proth...

  15. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

    OpenAIRE

    Sonal, Choudhary; Michael, McLeod; Daniele, Torchia; Paolo, Romanelli

    2012-01-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autoimmune disorder. The clinical spectrum of symptoms is diverse; the diagnosis relying on the presence of at least two out of the three main conditions defining the syndrome: chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease.

  16. Autoimmune hepatitis and juvenile systemic lupus erythematosus

    NARCIS (Netherlands)

    Deen, M. E. J.; Porta, G.; Fiorot, F. J.; Campos, L. M. A.; Sallum, A. M. E.; Silva, C. A. A.

    2009-01-01

    Juvenile systemic lupus erythematosus (JSLE) and autoimmune hepatitis (AIH) are both autoimmune disorders that are rare in children and have a widespread clinical manifestation. A few case reports have shown a JSLE-AIH associated disorder. To our knowledge, this is the first study that simultaneousl

  17. Sex bias in CNS autoimmune disease mediated by androgen control of autoimmune regulator.

    Science.gov (United States)

    Zhu, Meng-Lei; Bakhru, Pearl; Conley, Bridget; Nelson, Jennifer S; Free, Meghan; Martin, Aaron; Starmer, Joshua; Wilson, Elizabeth M; Su, Maureen A

    2016-01-01

    Male gender is protective against multiple sclerosis and other T-cell-mediated autoimmune diseases. This protection may be due, in part, to higher androgen levels in males. Androgen binds to the androgen receptor (AR) to regulate gene expression, but how androgen protects against autoimmunity is not well understood. Autoimmune regulator (Aire) prevents autoimmunity by promoting self-antigen expression in medullary thymic epithelial cells, such that developing T cells that recognize these self-antigens within the thymus undergo clonal deletion. Here we show that androgen upregulates Aire-mediated thymic tolerance to protect against autoimmunity. Androgen recruits AR to Aire promoter regions, with consequent enhancement of Aire transcription. In mice and humans, thymic Aire expression is higher in males compared with females. Androgen administration and male gender protect against autoimmunity in a multiple sclerosis mouse model in an Aire-dependent manner. Thus, androgen control of an intrathymic Aire-mediated tolerance mechanism contributes to gender differences in autoimmunity. PMID:27072778

  18. Interferon-¿ regulates oxidative stress during experimental autoimmune encephalomyelitis

    DEFF Research Database (Denmark)

    Espejo, C.; Penkowa, Milena; Saez-Torres, I.;

    2002-01-01

    Neurobiology, experimental autoimmune encephalomyelitis IFN-d, multiple sclerosis, neurodegeneration, oxidative stress......Neurobiology, experimental autoimmune encephalomyelitis IFN-d, multiple sclerosis, neurodegeneration, oxidative stress...

  19. Recurrence of autoimmune liver diseases after livertransplantation

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Liver transplantation (LT) is the most effective treatmentmodality for end stage liver disease caused by manyetiologies including autoimmune processes. That said,the need for transplantation for autoimmune hepatitis(AIH) and primary biliary cirrhosis (PBC), but not forprimary sclerosing cholangitis (PSC), has decreasedover the years due to the availability of effective medicaltreatment. Autoimmune liver diseases have superiortransplant outcomes than those of other etiologies. WhileAIH and PBC can recur after LT, recurrence is of limitedclinical significance in most, but not all cases. RecurrentPSC, however, often progresses over years to a stagerequiring re-transplantation. The exact incidence andthe predisposing factors of disease recurrence remaindebated. Better understanding of the pathogenesis andthe risk factors of recurrent autoimmune liver diseasesis required to develop preventive measures. In thisreview, we discuss the current knowledge of incidence,diagnosis, risk factors, clinical course, and treatmentof recurrent autoimmune liver disease (AIH, PBC, PSC)following LT.

  20. Hepatitis A vaccine associated with autoimmune hepatitis

    Institute of Scientific and Technical Information of China (English)

    PA Berry; G Smith-Laing

    2007-01-01

    To describe a case of probable relapsing autoimmune hepatitis associated with vaccination against hepatitis A virus (HAV). A case report and review of literature were written concerning autoimmune hepatitis in association with hepatitis A and other hepatotropic viruses. Soon after the administration of formalin-inactivated hepatitis A vaccine, a man who had recently recovered from an uncharacterized but self-limiting hepatitic illness,experienced a severe deterioration (AST 1687 U/L, INR 1.4). Anti-nuclear antibodies were detectable, and liver biopsy was compatible with autoimmune hepatitis. The observation supports the role of HAV as a trigger of autoimmune hepatitis. Studies in helper T-cell activity and antibody expression against hepatic proteins in the context of hepatitis A infection are summarized, and the concept of molecular mimicry with regard to other forms of viral hepatitis and autoimmunity is briefly explored.

  1. Autoimmune diseases in women with Turner's syndrome

    DEFF Research Database (Denmark)

    Jørgensen, Kristian T; Rostgaard, Klaus; Bache, Iben;

    2010-01-01

    OBJECTIVE: In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women...... with Turner's syndrome is characterized by diseases with a female or male predominance. METHODS: Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798...... Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. RESULTS: The overall risk of autoimmune...

  2. Diagnostic criteria of autoimmune hepatitis.

    Science.gov (United States)

    Liberal, Rodrigo; Grant, Charlotte R; Longhi, Maria Serena; Mieli-Vergani, Giorgina; Vergani, Diego

    2014-01-01

    Autoimmune hepatitis (AIH) is a chronic immune-mediated liver disorder characterised by female preponderance, elevated transaminase and immunoglobulin G levels, seropositivity for autoantibodies and interface hepatitis. Presentation is highly variable, therefore AIH should be considered during the diagnostic workup of any increase in liver enzyme levels. A set of inclusion and exclusion criteria for the diagnosis of AIH have been established by the International Autoimmune Hepatitis Group (IAIHG). There are two main types of AIH: type 1, positive for anti-nuclear (ANA) and/or anti-smooth muscle antibodies (SMAs) and type 2, defined by the presence of anti-liver kidney microsomal antibody type 1 (LKM-1) and/or anti-liver cytosol type 1 (LC-1) autoantibodies. The central role of autoantibodies in the diagnosis of AIH has led the IAIHG to produce a consensus statement detailing appropriate and effective methods for their detection. Autoantibodies should be tested by indirect immunofluorescence at an initial dilution of 1/40 in adults and 1/10 in children on a freshly prepared rodent substrate that includes kidney, liver and stomach sections to allow for the simultaneous detection of all reactivities relevant to AIH. Anti-LKM-1 is often confused with anti-mitochondrial antibody (AMA) if rodent kidney is used as the sole immunofluorescence substrate. The identification of the molecular targets of anti-LKM-1 and AMA has led to the establishment of immuno-assays based on the use of the recombinant or purified autoantigens. Perinuclear anti-nuclear neutrophil antibody (p-ANNA) is an additional marker of AIH-1; anti soluble liver antigen (SLA) antibodies are specific for autoimmune liver disease, can be present in AIH-1 and AIH-2 and are associated with a more severe clinical course. Anti-SLA are detectable by ELISA or radio-immuno-assays, but not by immunofluorescence. AIH is exquisitely responsive to immunosuppressive treatment, which should be instituted promptly to

  3. Anticuerpos anti 21 hidroxilasa séricos en pacientes con anticuerpos antifracción microsomal: Síndrome poliendocrino autoinmune Seric 21- hydroxilase antibodies in patients with anti-microsomal fraction antibodies: Autoimmune polyendocrine syndrome

    Directory of Open Access Journals (Sweden)

    Silvia Botta

    2007-04-01

    these are induced by autoantibodies. Alopecia, vitiligo, myasthenia and other manifestations can be minor components. We sought to establish the prevalence of seric a21-OH in patients with positive anti-microsomal fraction autoantibodies, autoimmune thyroid disease and/or non-endocrine autoimmune diseases. We also aimed to diagnose incomplete forms of APS and to follow up patients at risk of progression to complete forms of APS. A population of 72 patients and another of 60 controls with negative anti-microsomal fraction autoantibodies were studied. Elevated seric a21-OH were found in two patients. Patient A with 47 U/ml had autoimmune hypothyroidism and myasthenia; and patient B with 8.75 U/ml had autoimmune hypothyrodism and vitiligo; they both lacked adrenal insufficiency. Seric a21-OH had a prevalence of 2.8%. Regarding the adrenal component, patients A and B had an incomplete and latent APS type 2. Considering a21-OH as markers of latent endocrine autoimmune diseases and taking into account the eventual risk of developing clinical manifestations, periodic biochemical and clinical follow-ups are recommended.

  4. Rett syndrome: An autoimmune disease?

    Science.gov (United States)

    De Felice, Claudio; Leoncini, Silvia; Signorini, Cinzia; Cortelazzo, Alessio; Rovero, Paolo; Durand, Thierry; Ciccoli, Lucia; Papini, Anna Maria; Hayek, Joussef

    2016-04-01

    Rett syndrome (RTT) is a devastating neurodevelopmental disease, previously included into the autistic spectrum disorders, affecting almost exclusively females (frequency 1:10,000). RTT leads to intellective deficit, purposeful hands use loss and late major motor impairment besides featuring breathing disorders, epilepsy and increased risk of sudden death. The condition is caused in up to 95% of the cases by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Our group has shown a number of previously unrecognized features, such as systemic redox imbalance, chronic inflammatory status, respiratory bronchiolitis-associated interstitial lung disease-like lung disease, and erythrocyte morphology changes. While evidence on an intimate involvement of MeCP2 in the immune response is cumulating, we have recently shown a cytokine dysregulation in RTT. Increasing evidence on the relationship between MeCP2 and an immune dysfunction is reported, with, apparently, a link between MECP2 gene polymorphisms and autoimmune diseases, including primary Sjögren's syndrome, systemic lupus erythematosus, rheumatoid arthritis, and systemic sclerosis. Antineuronal (i.e., brain proteins) antibodies have been shown in RTT. Recently, high levels of anti-N-glucosylation (N-Glc) IgM serum autoantibodies [i.e., anti-CSF114(N-Glc) IgMs] have been detected by our group in a statistically significant number of RTT patients. In the current review, the Authors explore the current evidence, either in favor or against, the presence of an autoimmune component in RTT. PMID:26807990

  5. Experimental drugs for treatment of autoimmune myocarditis

    Institute of Scientific and Technical Information of China (English)

    Han Lina; Guo Shuli; Wang Yutang; Yang Liming; Liu Siyu

    2014-01-01

    Objective To review the experimental drugs for the treatment of autoimmune myocarditis.Data sources The literatures published in English about different kinds of experimental drugs based on different therapeutic mechanisms for the treatment of autoimmune myocarditis were obtained from PubMed from 2002 to 2013.Study selection Original articles regarding the experimental drugs for treatment of autoimmune myocarditis were selected.Results This study summarized the effects of the experimental drugs for the treatment of autoimmune myocarditis,such as immunomodulators and immunosuppressants,antibiotics,Chinese medicinal herbs,cardiovascular diseases treatment drugs,etc.These drugs can significantly attenuate autoimmune myocarditis-induced inflammation and fibrosis,alleviate autoimmune myocarditis-triggered overt lymphocyte proliferation,and meanwhile reduce Th1 cytokines (IFN-γ and IL-2) and increase Th2 cytokines (IL-4 and IL-10).Conclusion This study summarized recent advances in autoimmune myocarditis treatment and further proposes that traditional Chinese medicine and immune regulators will play important roles in the future.

  6. Effects of Viscosity on the Gravi-kinesis Responses of Swimming Paramecia Studied Using Manetic Force Buoyancy Variation

    Science.gov (United States)

    Jung, Ilyong; Valles, James M.

    2013-03-01

    Previous studies have shown that paramecia exhibit negative gravi-kinesis. They exert a stronger propulsive force when swimming up than when swimming down. This behavior is very surprising since it suggests they sense their tiny apparent weight of only ~ 80pN. In an effort to understand the mechanism of this sensing, we are testing how the viscosity of the swimming medium influences their gravi-kinetic response. We employ the technique of magnetic force buoyancy variation to simulate different effective gravity levels on swimming Paramecia. We are analyzing their swimming response employing a phenomenological model that relates the parameters describing their helical trajectories to the beating of their cilia. This work was supported by NSF PHY0750360 and at the NHMFL by NSF DMR-0084173

  7. Presence of Autoimmune Antibody in Chikungunya Infection

    Directory of Open Access Journals (Sweden)

    Wirach Maek-a-nantawat

    2009-01-01

    Full Text Available Chikungunya infection has recently re-emerged as an important arthropod-borne disease in Thailand. Recently, Southern Thailand was identified as a potentially endemic area for the chikungunya virus. Here, we report a case of severe musculoskeletal complication, presenting with muscle weakness and swelling of the limbs. During the investigation to exclude autoimmune muscular inflammation, high titers of antinuclear antibody were detected. This is the report of autoimmunity detection associated with an arbovirus infection. The symptoms can mimic autoimmune polymyositis disease, and the condition requires close monitoring before deciding to embark upon prolonged specific treatment with immunomodulators.

  8. Congenital Myasthenia

    Science.gov (United States)

    ... cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals that allow neurons to relay information from one cell to the next. For neurotransmitters to be effective, the nerve cell must release ...

  9. 以发声困难为首发症状的重症肌无力患者的临床特点%Clinical characteristics of myasthenia gravis with dysphonia as the initial symptom

    Institute of Scientific and Technical Information of China (English)

    孙文海; 刘华敏; 梁大鹏; 万秀明; 丛志强; 王海萍

    2006-01-01

    目的 探讨以发声困难为首发症状的重症肌无力患者的临床特征,提高早期诊断率,减少误诊.方法 报告以发声困难为首发症状的重症肌无力患者31例,观察和分析其临床症状和体征以及疾病的发展和转归过程.结果 患者早期症状包括发声无力9例,不能发高音1例,不能维持正常的音量或音调3例,声音嘶哑18例,均有病态性发声疲劳反复发作.纤维喉镜检查喉部表现为一侧或双侧声带内收、外展受限,声带松弛,声带麻痹,声门不能完全闭合,梨状窝积液等.新斯的明试验发声困难症状及喉部体征均有改善.19例患者检测血液中乙酰胆碱受体抗体,5例高于正常参考值.所有患者经过治疗其症状均改善或消失,但在疾病的进程中,均相继出现全身肌无力和球肌麻痹症状.结论 嗓音变化可能是某些重症肌无力患者早期惟一症状,对临床具有晨轻暮重,病态疲劳性发声困难的患者应注意采用新斯的明试验或检测血液中乙酰胆碱受体抗体,以除外重症肌无力.

  10. Localized thymic Langerhans cell histiocytosis with myasthenia gravis%原发于胸腺的Langerhans细胞组织细胞增生症合并重症肌无力一例

    Institute of Scientific and Technical Information of China (English)

    卢洪胜; 张新华

    2005-01-01

    患者女,28岁,因眼睑下垂伴复视3个月入院,查体:右眼睑下垂。CT扫描示右胸腺增生,入院诊断为重症肌无力(眼型)。于2004年5月9日行纵隔肿块切除术,术中见胸腺明显增生,与右侧胸膜稍粘连。

  11. 血浆交换丙种球蛋白甲基强的松龙治疗重症肌无力%The treatment of myasthenia gravis with plasma exchange beriglobin and methylprednisolone

    Institute of Scientific and Technical Information of China (English)

    陈红芳; 吴仁娣

    2003-01-01

    目的探讨依次采用少量血浆交换、大剂量丙种球蛋白、大剂量甲基强的松龙治疗重症肌无力 (MG)Ⅱ b或Ⅲ型的临床疗效及安全性.方法对符合 Osserman 分型为Ⅱ b或Ⅲ型的 37例 MG患者,按住院先后顺序随机分成两组.治疗组 18例,依次采用少量血浆交换、大剂量丙种球蛋白、大剂量甲基强的松龙治疗.对照组 19例,采用传统的大剂量地塞米松治疗.观察两组近期的临床疗效及安全性.结果治疗组症状缓解快,激素治疗过程中发生呼吸肌瘫痪、使用呼吸机现象少,住院时间短,死亡率低 (均 p<0.05).结论依次采用少量血浆交换、大剂量丙种球蛋白、大剂量甲基强的松龙治疗Ⅱ b或Ⅲ型 MG效果好,安全性高,值得临床推广应用.

  12. Cyclosporine Treatment in a Patient with Concurrent Autoimmune Urticaria and Autoimmune Hepatitis

    OpenAIRE

    Ju, Hye Young; Kim, Hei Sung; Kim, Hyung Ok; Park, Young Min

    2009-01-01

    Patients with autoimmune urticaria show a higher rate of seropositivity for other autoantibodies and often have a history of autoimmune conditions. They also tend to have more severe symptoms and to have a poor response to conventional antihistamine treatment. Autoimmune hepatitis is a chronic inflammatory disorder in which progressive liver injury is thought to be the result of a T-cell-mediated immunologic attack against liver cells in genetically predisposed individuals. While the associat...

  13. Environmental factors affecting autoimmune thyroid disease

    Energy Technology Data Exchange (ETDEWEB)

    Safran, M.; Paul, T.L.; Roti, E.; Braverman, L.E.

    1987-06-01

    A number of environmental factors affect the incidence and progression of autoimmune thyroid disease. Exposure to excess iodine, certain drugs, infectious agents and pollutants, and stress have all been implicated.

  14. Autoimmune Cytopenias in Chronic Lymphocytic Leukemia

    Directory of Open Access Journals (Sweden)

    Giovanni D'Arena

    2013-01-01

    Full Text Available The clinical course of chronic lymphocytic leukemia (CLL may be complicated at any time by autoimmune phenomena.The most common ones are hematologic disorders, such as autoimmune hemolytic anemia (AIHA and immune thrombocytopenia (ITP. Pure red cell aplasia (PRCA and autoimmune agranulocytosis (AG are, indeed, more rarely seen. However, they are probably underestimated due to the possible misleading presence of cytopenias secondary to leukemic bone marrow involvement or to chemotherapy cytotoxicity. The source of autoantibodies is still uncertain, despite the most convincing data are in favor of the involvement of resting normal B-cells. In general, excluding the specific treatment of underlying CLL, the managementof these complications is not different from that of idiopathic autoimmune cytopenias or of those associated to other causes. Among different therapeutic approaches, monoclonal antibody rituximab, given alone or in combination, has shown to be very effective.

  15. Acute recurrent pancreatitis: An autoimmune disease?

    Institute of Scientific and Technical Information of China (English)

    Raffaele Pezzilli

    2008-01-01

    In this review article,we will briefly describe the main characteristics of autoimmune pancreatitis and then we will concentrate on our aim,namely,evaluating the clinical characteristics of patients having recurrence of pain from the disease.In fact,the open question is to evaluate the possible presence of autoimmune pancreatitis in patients with an undefined etiology of acute pancreatitis and for this reason we carried out a search in the literature in order to explore this issue.In cases of recurrent attacks of pain in patients with "idiopathic"pancreatitis,we need to keep in mind the possibility that our patients may have autoimmune pancreatitis.Even though the frequency of this disease seems to be quite low,we believe that in the future,by increasing our knowledge on the subject,we will be able to diagnose an ever-increasing number of patients having acute recurrence of pain from autoimmune pancreatitis.

  16. B Cell Autonomous TLR Signaling and Autoimmunity

    Science.gov (United States)

    Meyer-Bahlburg, Almut; Rawlings, David J

    2009-01-01

    B cells play a central role in the pathogenesis of multiple autoimmune diseases and the recognition of importance of B cells in these disorders has grown dramatically in association with the remarkable success of B-cell depletion as a treatment for autoimmunity. The precise mechanisms that promote alterations in B cell tolerance remain incompletely defined. There is increasing evidence, however, that TLRs play a major role in these events. Stimulation of B cells via the TLR pathway not only leads to an increase in antibody production but also promotes additional changes including cytokine production and upregulation of activation markers increasing the effectiveness of B cells as APCs. Understanding the role of TLRs in systemic autoimmunity will not only provide insight into the disease pathogenesis but may also lead to the development of novel therapies. This article gives an overview of TLR signaling in B cells and the possible involvement of such signals in autoimmune diseases. PMID:18295736

  17. Difficult treatment decisions in autoimmune hepatitis

    Institute of Scientific and Technical Information of China (English)

    Albert; J; Czaja

    2010-01-01

    Treatment decisions in autoimmune hepatitis are complicated by the diversity of its clinical presentations,uncertainties about its natural history,evolving opinions regarding treatment end points,varied nature of refractory disease,and plethora of alternative immu-nosuppressive agents. The goals of this article are to review the difficult treatment decisions and to provide the bases for making sound therapeutic judgments. The English literature on the treatment problems in au-toimmune hepatitis were identif...

  18. Hepatitis A vaccine associated with autoimmune hepatitis

    OpenAIRE

    Berry, PA; Smith-Laing, G

    2007-01-01

    To describe a case of probable relapsing autoimmune hepatitis associated with vaccination against hepatitis A virus (HAV). A case report and review of literature were written concerning autoimmune hepatitis in association with hepatitis A and other hepatotropic viruses. Soon after the administration of formalin-inactivated hepatitis A vaccine, a man who had recently recovered from an uncharacterized but self-limiting hepatitic illness, experienced a severe deterioration (AST 1687 U/L, INR 1.4...

  19. Autoimmune pancreatitis can develop into chronic pancreatitis

    OpenAIRE

    Maruyama, Masahiro; Watanabe, Takayuki; Kanai, Keita; Oguchi, Takaya; Asano, Jumpei; Ito, Tetsuya; Ozaki, Yayoi; Muraki, Takashi; Hamano, Hideaki; ARAKURA, Norikazu; Kawa, Shigeyuki

    2014-01-01

    Autoimmune pancreatitis (AIP) has been recognized as a distinct type of pancreatitis that is possibly caused by autoimmune mechanisms. AIP is characterized by high serum IgG4 and IgG4-positive plasma cell infiltration in affected pancreatic tissue. Acute phase AIP responds favorably to corticosteroid therapy and results in the amelioration of clinical findings. However, the long-term prognosis and outcome of AIP remain unclear. We have proposed a working hypothesis that AIP can develop into o...

  20. New mechanism revealed for regulation of autoimmunity

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    @@ A healthy human body is equipped with a powerful immune system for resisting the attack of invading microorganisms. Unfortunately, the system sometimes goes awry and attacks the body itself.Autoimmunity is the failure of an organism to recognize its own constituent parts as"self," resulting in an immune response against its own cells and tissues. A disorder that results from such an aberrant immune response is termed an autoimmune disease.