WorldWideScience

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. Myasthenia Gravis

    Science.gov (United States)

    Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because ... problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own ...

  3. 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

  4. Familial Autoimmune Myasthenia Gravis (Report Of 3 Cases)

    OpenAIRE

    Girija A. S; Madhukar M; John John K

    2003-01-01

    Familial Autoimmune myasthenia gravis is rare, occurring in only about 1.3% cases of myasthenia gravis (MG). Here in we report a family with three family members affected by MG. Proband presented with generalised myasthenia where as the other two affected family members had only ocular myasthenia. Anti-acetylcholinereceptor antibody was strongly positive in the proband and he responded to steroids. His brother in addition had vitiligo over his face substantiating the autoimmune natu...

  5. Familial autoimmune myasthenia gravis with different pathogenetic antibodies.

    OpenAIRE

    C. Provenzano; Arancio, O; Evoli, A; Rocca, B.; Bartoccioni, E; De Grandis, D; Tonali, P.

    1988-01-01

    Two cases of familial myasthenia gravis are reported. One patient is a typical case of autoimmune myasthenia with positive anti acetylcholine receptor antibodies, while in the second patient the impairment of neuromuscular transmission is likely to be due to antibodies directed against determinants other than the acetylcholine receptors.

  6. Autoimmune thyroid disease with myasthenia gravis in a 28-year-old male: a case report

    OpenAIRE

    Masood, Imran; Yasir, Mir; Aiman, Aiffa; Kudyar, R P

    2009-01-01

    Introduction Graves' disease and myasthenia gravis are both auto-immune diseases and the coexistence of these two diseases is rare but well recognized. Myasthenia gravis is more frequent in patients with thyroid disease. Case presentation Here we present a case of 28-year-old male patient having Auto-immune thyroid disease (Graves' disease) with concomitant myasthenia gravis. Conclusion In conclusion, we report that the coexistence of Myasthenia Gravis with Autoimmune thyroid disease might ha...

  7. Autoimmune polyglandular syndrome, type 2 associated with myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Pejin Radoslav

    2012-01-01

    Full Text Available Introduction. Autoimmune polyglandular syndrome type 2 is defined as adrenal insufficiency associated with autoimmune primary hypothyroidism and/or with autoimmune type 1 diabetes mellitus, but very rare with myasthenia gravis. Case report. We presented a case of an autoimmune polyglandular syndrome, type 2 associated with myasthenia gravis. A 49-year-old female with symptoms of muscle weakness and low serum levels of cortisol and aldosterone was already diagnosed with primary adrenal insufficiency. Primary hypothyroidism was identified with low values of free thyroxine 4 (FT4 and raised values of thyroidstumulating hormone (TSH. The immune system as a cause of hypothyroidism was confirmed by the presence of thyroid antibodies to peroxidase and TSH receptors. Myasthenia gravis was diagnosed on the basis of a typical clinical feature, positive diagnostic tests and an increased titre of antibodies against the acetylcholine receptors. It was not possible to confirm the immune nature of adrenal insufficiency by the presence of antibodies to 21- hydroxylase. The normal morphological finding of the adrenal glands was an indirect confirmation of the condition as well as the absence of other diseases that might have led to adrenal insufficiency and low levels of both serum cortisol and aldosterone. Hormone replacement therapy, anticholinergic therapy and corticosteroid therapy for myasthenia gravis improved the patient’s general state of health and muscle weakness. Conclusion. This case report indicates a need to examine each patient with an autoimmune disease carefully as this condition may be associated with another autoimmune diseases.

  8. 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 ...

  9. 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 ...

  10. 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

  11. Myasthenia gravis - resources

    Science.gov (United States)

    Resources - myasthenia gravis ... The following organizations provide information on myasthenia gravis : Myasthenia Gravis Foundation of America -- www.myasthenia.org National Institute of Neurological Disorders and Stroke -- www.ninds.nih.gov/disorders/myasthenia_ ...

  12. Combined short-term immunotherapy for experimental autoimmune myasthenia gravis

    International Nuclear Information System (INIS)

    A therapeutic strategy was designed to eliminate the humoral immune response to acetylcholine receptor (AChR) in ongoing experimental autoimmune myasthenia gravis (EAMG). Rats with EAMG were treated with a protocol consisting of three components: (1) A single high dose of cyclophosphamide (200 mg/kg) was used to produce a rapid and sustained fall in the anti-AChR antibody levels by preferential destruction of antibody-producing B-lymphocytes. ''Memory'' lymphocytes were not eliminated by cyclophosphamide. (2) Irradiation (600 rads) was used to eliminate the ''memory'' cells. It eliminated the anamnestic response to a challenge with the antigen AChR. (3) Bone marrow transplantation was used to repopulate the hematopoietic system after the otherwise lethal dose of cyclophosphamide. We used bone marrow from syngeneic rats with active EAMG to simulate an autologous transplant. Rats with EAMG treated with this combined protocol showed a prompt and sustained fall in the anti-AChR antibody levels and had no anamnestic response to a challenge with AChR. Thus, an affected animal's own marrow could be stored and used later for repopulation after cyclophosphamide-irradiation treatment. This treatment eliminates the animal's ongoing immune responses and reconstitutes the immune system in its original state. The success of this approach suggests that, if their safety could be established, similar ''curative'' strategies might be developed for the treatment of patients with severe antibody-mediated autoimmune disorders, such as myasthenia gravis

  13. 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

  14. Myasthenia Gravis

    Science.gov (United States)

    ... Order Brochures News From NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS Myasthenia Gravis Fact Sheet See a list of all NINDS Disorders Get Web page suited for printing Email this to a friend ...

  15. 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

  16. Combined short-term immunotherapy for experimental autoimmune myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Pestronk, A.; Drachman, D.B.; Teoh, R.; Adams, R.N.

    1983-08-01

    A therapeutic strategy was designed to eliminate the humoral immune response to acetylcholine receptor (AChR) in ongoing experimental autoimmune myasthenia gravis (EAMG). Rats with EAMG were treated with a protocol consisting of three components: (1) A single high dose of cyclophosphamide (200 mg/kg) was used to produce a rapid and sustained fall in the anti-AChR antibody levels by preferential destruction of antibody-producing B-lymphocytes. ''Memory'' lymphocytes were not eliminated by cyclophosphamide. (2) Irradiation (600 rads) was used to eliminate the ''memory'' cells. It eliminated the anamnestic response to a challenge with the antigen AChR. (3) Bone marrow transplantation was used to repopulate the hematopoietic system after the otherwise lethal dose of cyclophosphamide. We used bone marrow from syngeneic rats with active EAMG to simulate an autologous transplant. Rats with EAMG treated with this combined protocol showed a prompt and sustained fall in the anti-AChR antibody levels and had no anamnestic response to a challenge with AChR. Thus, an affected animal's own marrow could be stored and used later for repopulation after cyclophosphamide-irradiation treatment. This treatment eliminates the animal's ongoing immune responses and reconstitutes the immune system in its original state. The success of this approach suggests that, if their safety could be established, similar ''curative'' strategies might be developed for the treatment of patients with severe antibody-mediated autoimmune disorders, such as myasthenia gravis.

  17. Juvenile myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Meenakshi Kalyan

    2014-10-01

    Full Text Available Juvenile myasthenia gravis is a rare disorder acquired in childhood, representing 10% to 15% of all cases of myasthenia gravis. Like the adult form, it is generally characterized by an autoimmune attack on acetylcholine receptors at the neuromuscular junction. Most patients present with ptosis, diplopia, and fatigability. More advanced cases may also have bulbar problems and limb weakness and may progress to paralysis of the respiratory muscles.

  18. Coexistence of myasthenia gravis and pemphigus foliaceus.

    OpenAIRE

    Kim, H. T.; Kim, S. H.; Kim, J. H.; Kim, M H; Lee, C. W.

    1995-01-01

    Myasthenia gravis and pemphigus are both considered to have an autoimmune basis. Although immunological and clinical studies have been performed on large numbers of patients with myasthenia gravis, the coexistence of myasthenia gravis and pemphigus foliaceus has rarely been described. We recently have the opportunity to study a 33-year-old female patient having both of these autoimmune diseases confirmed by various diagnostic methods. This rare coexistence of myasthenia gravis and pemphigus f...

  19. 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

  20. 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

  1. Myasthenia Gravis Tests

    Science.gov (United States)

    ... be limited. Home Visit Global Sites Search Help? Myasthenia Gravis Share this page: Was this page helpful? ... Tests The goals with testing are to diagnose myasthenia gravis (MG), distinguish it from other conditions with ...

  2. Myasthenia Gravis Foundation of America

    Science.gov (United States)

    ... serves patients, their families and caregivers. What is myasthenia gravis (MG)? Myasthenia gravis (pronounced My-as-theen- ... gravis and related disorders. Read more here. Alexion Myasthenia Gravis Clinical Trial Alexion Pharmaceuticals is conducting a ...

  3. Thyrotoxicosis With Myasthenia Gravis

    OpenAIRE

    S K. Gupta, Shruti Gupta, Anupriya Gupta, Dheeraj Gandotra, A. Gupta

    2009-01-01

    The effect of both thyrotoxicosisand its alleviation on the course of myasthenia gravis isvariable, but in the majority of instances, myasthenia isaccentuated during the thyrotoxicosis state and improveswhen a normal metabolic state is restored.Abnormalitiesof the thyroid function (hyper/hypo thyroidism) mayincrease myasthenia weakness. We here by report a case of Thyrotoxicosis With Myasthenia Gravis.

  4. 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.

  5. Ocular myasthenia gravis coincident with thyroid ophthalmopathy

    OpenAIRE

    Yaman A; Yaman H

    2003-01-01

    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.

  6. 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.

  7. 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

  8. 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

  9. 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 ...

  10. 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 ...

  11. Markedly enhanced susceptibility to experimental autoimmune myasthenia gravis in the absence of decay-accelerating factor protection

    OpenAIRE

    Lin, Feng; Kaminski, Henry J.; Conti-Fine, Bianca M.; Wang, Wei(Helmholtz-Institut für Strahlen- und Kernphysik, Bethe Center for Theoretical Physics, Universität Bonn, Bonn, D-53115, Germany); Richmonds, Chelliah; Medof, M. Edward

    2002-01-01

    Myasthenia gravis (MG) is an autoimmune neuromuscular transmission disorder characterized by loss of acetylcholine receptors (AChR’s) due primarily to the production of anti-AChR autoantibodies. In this study we investigated whether the presence of decay-accelerating factor (DAF or CD55), an intrinsic complement regulator, protects against the development of disease. Experimental autoimmune MG was induced in Daf1–/– mice (devoid of neuromuscular DAF protein) and their Daf1+/+ littermates by i...

  12. 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.

  13. MYASTHENIA GRAVIS, DIAGNOSIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    A.A Gde Agung Anom Arie W

    2013-05-01

    Full Text Available Normal 0 false false false EN-US X-NONE X-NONE Myasthenia gravis is one characteristic of autoimmune disease caused by the disruption of synaptic transmission at the neuromuscular junction. It is characterized by a progressive weakness and abnormal skeletal muscle used continuously and accompanied by fatigue on exertion. knowledge of normal anatomy and function of the neuromuscular junction is very important for understanding about myasthenia gravis,.Presynaptic membrane (membrane nerve, post-synaptic membrane (membrane of the muscle, and the synaptic gap forming part of the neuromuscular junction. Immunogenic mechanism plays a very important in the pathophysiology of myasthenia gravis, in which the antibody is the product of B cells is precisely against the acetylcholine receptor. Management of myasthenia gravis to do with drugs, thymomectomy or with immunomodulating and immunosuppressive therapy that can provide a good prognosis in the healing myasthenia gravis. /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

  14. 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...

  15. Assays for myasthenia gravis

    International Nuclear Information System (INIS)

    This patent describes an improvement in a process for diagnosing myasthenia gravis. The process comprises the steps of preparing a complex of acetycholine receptor protein, toxin and a radioactive isotope, incubating the complex with a serum sample from a patient so as to join antibodies engendered in connection with myasthenia gravis to the complex, precipitating the complex joined with antibody with anti-immunoglobulin and measuring radioactivity, from the radioactive isotope, of the precipitated complex. The improvement is that the acetylcholine receptor protein is derived from cells of the TE671 Line

  16. Assays for myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Lindstrom, J.M.

    1988-12-06

    This patent describes an improvement in a process for diagnosing myasthenia gravis. The process comprises the steps of preparing a complex of acetycholine receptor protein, toxin and a radioactive isotope, incubating the complex with a serum sample from a patient so as to join antibodies engendered in connection with myasthenia gravis to the complex, precipitating the complex joined with antibody with anti-immunoglobulin and measuring radioactivity, from the radioactive isotope, of the precipitated complex. The improvement is that the acetylcholine receptor protein is derived from cells of the TE671 Line.

  17. Gallium scans in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Swick, H.M. (Univ. of Kentucky, Lexington); Preston, D.F.; McQuillen, M.P.

    1976-01-01

    A study was conducted to determine whether /sup 67/Ga scans could be used for the detection of thymomas and to investigate the activity of the thymus gland in patients with myasthenia gravis. Scans of the anterior mediastinum proved to be a reliable way to detect thymomas. The scans were positive in eight patients including three with myasthenia gravis and histologically proved thymomas, three others with severe myasthenia gravis and thymic tumors, and two with histologically proved thymomas not associated with myasthenia. Activity on /sup 67/Ga scans was not directly related to the increased activity of the thymus gland that is presumed to be associated with myasthenia gravis. (HLW)

  18. Gallium scans in myasthenia gravis

    International Nuclear Information System (INIS)

    A study was conducted to determine whether 67Ga scans could be used for the detection of thymomas and to investigate the activity of the thymus gland in patients with myasthenia gravis. Scans of the anterior mediastinum proved to be a reliable way to detect thymomas. The scans were positive in eight patients including three with myasthenia gravis and histologically proved thymomas, three others with severe myasthenia gravis and thymic tumors, and two with histologically proved thymomas not associated with myasthenia. Activity on 67Ga scans was not directly related to the increased activity of the thymus gland that is presumed to be associated with myasthenia gravis

  19. Thymus irradiation for myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Currier, R.D.; Routh, A.; Hickman, B.T.; Douglas, M.A.

    1983-01-01

    Twenty-eight patients with progressive myasthenia gravis without thymoma received treatment of 3000 rads (30 Gy) to the anterior mediastinum, and a followup was conducted for five to 18 years. Twenty-four patients had generalized myasthenia, and four had ocular myasthenia gravis. Twenty patients with generalized myasthenia survived the several month post-treatment period and improved, but four died during that period. The improvement lasted a median of 1.5 years, and older patients had longer remissions than younger patients. The four patients who had ocular myasthenia did not change after treatment. Mediastinal irradiation produces a temporary remission in generalized myasthenia.

  20. Thymus irradiation for myasthenia gravis

    International Nuclear Information System (INIS)

    Twenty-eight patients with progressive myasthenia gravis without thymoma received treatment of 3000 rads (30 Gy) to the anterior mediastinum, and a followup was conducted for five to 18 years. Twenty-four patients had generalized myasthenia, and four had ocular myasthenia gravis. Twenty patients with generalized myasthenia survived the several month post-treatment period and improved, but four died during that period. The improvement lasted a median of 1.5 years, and older patients had longer remissions than younger patients. The four patients who had ocular myasthenia did not change after treatment. Mediastinal irradiation produces a temporary remission in generalized myasthenia

  1. Thymomatous myasthenia gravis.

    Science.gov (United States)

    Pandit, L; Rao, S N

    1995-08-01

    Ten cases of thymoma associated myasthenia were seen in the last 7 years. They constitute 17.2% of all cases of Myasthenia gravis seen during the same period. Five of these patients presented in the third decade, all of them presenting with acute generalised Myasthenia (Osserman stage-III). Two patients presented with tumour related symptoms of chest pain, cough and dyspnea both of them having large, invasive and partially resectable tumours. Five patients underwent complete thymectomy and 3 patients underwent partial resection of tumour. Two patients underwent radiotherapy subsequently. Histologically, mixed lymphoepithelial tumours were common (70%). Tumour recurrence was seen in one patient. Two patients died, one in the post operative period. The surviving 8 patients followed up over 1-8 years remained in partial remission, on maintenance dose of steroids. The special problems related to thymomatous MG and practical approach to management are highlighted. PMID:8772974

  2. Myasthenia gravis presenting with stridor.

    OpenAIRE

    J A Hanson; Lueck, C J; Thomas, D J

    1996-01-01

    The case is described of a 72 year old woman who presented with a two year history of exertional stridor in whom the diagnosis of myasthenia gravis was delayed. Although an uncommon cause, myasthenia gravis should be included in the differential diagnosis of stridor.

  3. “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

  4. "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

  5. "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.

  6. MuSK induced experimental autoimmune myasthenia gravis does not require IgG1 antibody to MuSK.

    Science.gov (United States)

    Küçükerden, Melike; Huda, Ruksana; Tüzün, Erdem; Yılmaz, Abdullah; Skriapa, Lamprini; Trakas, Nikos; Strait, Richard T; Finkelman, Fred D; Kabadayı, Sevil; Zisimopoulou, Paraskevi; Tzartos, Socrates; Christadoss, Premkumar

    2016-06-15

    Sera of myasthenia gravis (MG) patients with muscle-specific receptor kinase-antibody (MuSK-Ab) predominantly display the non-complement fixing IgG4 isotype. Similarly, mouse IgG1, which is the analog of human IgG4, is the predominant isotype in mice with experimental autoimmune myasthenia gravis (EAMG) induced by MuSK immunization. The present study was performed to determine whether IgG1 anti-MuSK antibody is required for immunized mice to develop EAMG. Results demonstrated a significant correlation between clinical severity of EAMG and levels of MuSK-binding IgG1+, IgG2+ and IgG3+ peripheral blood B cells in MuSK-immunized wild-type (WT) mice. Moreover, MuSK-immunized IgG1 knockout (KO) and WT mice showed similar EAMG severity, serum MuSK-Ab levels, muscle acetylcholine receptor concentrations, neuromuscular junction immunoglobulin and complement deposit ratios. IgG1 and IgG3 were the predominant anti-MuSK isotypes in WT and IgG1 KO mice, respectively. These observations demonstrate that non-IgG1 isotypes can mediate MuSK-EAMG pathogenesis. PMID:27235354

  7. 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 ...

  8. Statin-associated weakness in myasthenia gravis: a case report

    Directory of Open Access Journals (Sweden)

    Keogh Michael J

    2010-02-01

    Full Text Available Abstract Introduction Myasthenia gravis is a commonly undiagnosed condition in the elderly. Statin medications can cause weakness and are linked to the development and deterioration of several autoimmune conditions, including myasthenia gravis. Case presentation We report the case of a 60-year-old Caucasian man who presented with acute onset of dysarthria and dysphagia initially attributed to a brain stem stroke. Oculobulbar and limb weakness progressed until myasthenia gravis was diagnosed and treated, and until statin therapy was finally withdrawn. Conclusion Myasthenia gravis may be underappreciated as a cause of acute bulbar weakness among the elderly. Statin therapy appeared to have contributed to the weakness in our patient who was diagnosed with myasthenia gravis.

  9. 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

  10. [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

  11. 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...

  12. 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...

  13. 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

  14. 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.

  15. 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 ...

  16. Oral administration of a dual analog of two myasthenogenic T cell epitopes down-regulates experimental autoimmune myasthenia gravis in mice

    OpenAIRE

    Paas-Rozner, Miri; Dayan, Molly; Paas, Yoav; Changeux, Jean-Pierre; Wirguin, Itzhak; Sela, Michael; Mozes, Edna

    2000-01-01

    Myasthenia gravis (MG) and experimental autoimmune MG (EAMG) are T cell-regulated, antibody-mediated autoimmune diseases. The major autoantigen in MG is the nicotinic acetylcholine receptor (AChR). Two peptides, representing sequences of the human AChR α-subunit, p195–212 and p259–271, were previously shown to be immunodominant T cell epitopes in MG patients as well as, respectively, in SJL and BALB/c mice. A dual analog (termed Lys-262–Ala-207) composed of the tandemly arranged two single am...

  17. 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.

  18. Myasthenia Gravis: Drugs to be Avoided

    Science.gov (United States)

    ... Many different drugs have been associated with worsening myasthenia gravis (MG). However, these drug associations do not ... review article for health professionals, found at the myasthenia.org website. For this app, we are only ...

  19. 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.

  20. 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...

  1. Computer tomography in myasthenia gravis

    International Nuclear Information System (INIS)

    In this report, preoperative CT diagnosis of the thymus was reevaluated in 15 operated patients with myasthenia gravis. Using GE CT/T 8800 wholebody scanner, pre- and/or post-contrast study was performed from the apex to the diaphragm level. Five cases of thymoma, 5 out of 6 cases of thymic hyperplasia and 3 cases of normal thymus were correctly diagnosed. One hyperplasia was diagnosed as normal and one normal thymus as hyperplasia. At the CT evaluation of the thymus in patients with myasthenia gravis, it is easy to detect thymoma, but it is often difficult to differentiate thymic hyperplasia and normal thymus due to the aging changes in the gland and the presence of localized hyperplasia. (author)

  2. RI scintigraphy in myasthenia gravis

    International Nuclear Information System (INIS)

    35 cases of myasthenia gravis were studied with RI scintigraphy. 67Ga-citrate was used in 34 patients and 76Se-selenomethionine in 5 patients for thymus scintigraphy. RI scintigram was negative in non-tumorous thymus, regardless of the severity of illness and it was positive in seven of nine patients with thymomas. RI accumulation in thymus was found both in benign and malignant thymomas. RI seems to accumulated in lymphocytic and mixed thymus more than epithelial type. (author)

  3. RI scintigraphy in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Kuroda, Yoshikazu; Miyamoto, Mariko (Tokyo Metropolitan Fuchu Hospital (Japan)); Maki, Masako; Yamazaki, Toshiro

    1982-10-01

    35 cases of myasthenia gravis were studied with RI scintigraphy. /sup 67/Ga-citrate was used in 34 patients and /sup 76/Se-selenomethionine in 5 patients for thymus scintigraphy. RI scintigram was negative in non-tumorous thymus, regardless of the severity of illness and it was positive in seven of nine patients with thymomas. RI accumulation in thymus was found both in benign and malignant thymomas. RI seems to accumulated in lymphocytic and mixed thymus more than epithelial type.

  4. 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.

  5. 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.

  6. 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...

  7. 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.

  8. 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. ...

  9. 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.

  10. 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

  11. 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.

  12. Stiff person syndrome and myasthenia gravis.

    Directory of Open Access Journals (Sweden)

    Saravanan P

    2002-01-01

    Full Text Available Association of stiff person syndrome, an immune related disorder of anterior horn cells and myasthenia gravis an endplate disorder with similar pathogenesis, is rare. This communication documents this association in the Indian literature for the first time.

  13. Malignant thymona with symptoms of myasthenia gravis

    International Nuclear Information System (INIS)

    The rare case of malignant tumor of thymus - Thymoma malignum was described. The initial diagnosis was difficult, because of the irregular symptoms of myasthenia gravis. The diagnostic difficulties, treatment and clinical features of this neoplasm were also discussed. (author)

  14. Hypersensitivity to azathioprine in myasthenia gravis.

    OpenAIRE

    Watts, G. F.; Corston, R.

    1984-01-01

    A patient with myasthenia gravis is described who exhibited hypersensitivity including an apparent acute exacerbation of the underlying disorder when treated with azathioprine. 6-mercaptoprine (6-MP) also produced hypersensitivity which, in contrast, did not manifest as a myasthenic exacerbation.

  15. Multiple thymoma in a patient with myasthenia gravis: case report

    International Nuclear Information System (INIS)

    A thymoma often occurs in patients with myasthenia gravis, but the development of multiple thymoma is very rare. The authors report the radiologic and pathologic findings of multiple invasive thymoma in a 59-year-old male with myasthenia gravis

  16. Multiple thymoma in a patient with myasthenia gravis: case report

    Energy Technology Data Exchange (ETDEWEB)

    Ko, Eun Sook; Jeon, Kyung Nyeo; Bae, Kyung Soo; Yoo, Jin Jong [College of Medicine, Gyeongsang National Univ., Jinju (Korea, Republic of); Kang, Duk Sik [College of Medicine, Kyungpook National Univ., Daegu (Korea, Republic of)

    2004-02-01

    A thymoma often occurs in patients with myasthenia gravis, but the development of multiple thymoma is very rare. The authors report the radiologic and pathologic findings of multiple invasive thymoma in a 59-year-old male with myasthenia gravis.

  17. Thyrotoxicosis, myasthenia gravis and periodic paralysis in a Chinese man.

    OpenAIRE

    Lee, K. O.; Guan, R.; Ee, B.; Cheah, J. S.

    1985-01-01

    The association of myasthenia gravis and periodic paralysis in thyrotoxicosis has not been reported before. We describe a Chinese man with thyrotoxicosis and myasthenia gravis, who subsequently developed periodic paralysis. The possible aetiological links are discussed.

  18. 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.

  19. [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

  20. 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

  1. 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

  2. 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.

  3. An occasional diagnosis of myasthenia gravis - a focus on thymus during cardiac surgery: a case report

    Directory of Open Access Journals (Sweden)

    Dainese Luca

    2009-10-01

    Full Text Available Abstract Background Myasthenia gravis, an uncommon autoimmune syndrome, is commonly associated with thymus abnormalities. Thymomatous myasthenia gravis is considered to have worst prognosis and thymectomy can reverse symptoms if precociously performed. Case report We describe a case of a patient who underwent mitral valve repair and was found to have an occasional thymomatous mass during the surgery. A total thymectomy was performed concomitantly to the mitral valve repair. Conclusion The diagnosis of thymomatous myasthenia gravis was confirmed postoperatively. Following the surgery this patient was strictly monitored and at 1-year follow-up a complete stable remission had been successfully achieved.

  4. 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.

  5. 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...

  6. Anaesthetic Considerations in Paediatric Myasthenia Gravis

    OpenAIRE

    Oliver William Masters; Oliver N. Bagshaw

    2011-01-01

    Myasthenia gravis is of particular interest to anaesthetists because of the muscle groups affected, the pharmacology of the neuromuscular junction, and interaction of both the disease and treatment with many anaesthetic drugs. Anaesthetists may encounter children with myasthenia either to facilitate treatment options or to institute mechanical ventilation in the face of a crisis. This paper reviews the literature pertaining to the pathophysiology and applied pharmacology of the disease and ex...

  7. 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...

  8. 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

  9. 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.

  10. 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.

  11. CT evaluation of thymus in myasthenia gravis

    International Nuclear Information System (INIS)

    The relationship between myasthenia gravis and the thymus was well establish and myasthenia gravis occurs in the presence of thymic hyperplasia or thymoma or occasionally in histologically normal thymus. Since not every patients with myasthenia gravis is a candidate for thymectomy, unless a thymoma is present, the differentiation of normal and hyperplastic thymus from thymoma becomes important. Authors reviewed retrospectively clinical records and chest CT scans of 18 patients with myasthenia gravis who underwent thymectomy during recent 5 years, to evaluate the role of CT scan. The results were as follows. 1 Of total 18 cases, 5 cases had normal thymus, 6 cases had thymic hyperplasia, 4 cases had benign thymoma and 3 cases had malignant thymoma. 2. Of 5 cases of normal thymus, no false positive cases were noted in CT scan. 3. Of 6 cases of thymic hyperplasia, CT findings were normal except 1 cases of thickened left thymic lobe. 4. Of 7 cases of thymoma, no false negative cases were noted in CT scan. 5. CT findings of benign thymoma were round or oval shaped, discrete, slightly enhancing soft tissue mass in anterior mediastinum. 6. CT findings of malignant thymoma were lobulated contoured, infiltrative, soft tissue mass lesion in anterior mediastinum with calcifications, pleural tumor implants, and SVC compression. CT yielded valuable information on differential diagnosis of thymoma, thymic hyperplasia and normal thymus. Also CT was a highly sensitive method in the detection of thymoma and determining the extent and invasiveness

  12. CT evaluation of thymus in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Guk Hee [Insung Hospital, Chuncheon (Korea, Republic of); Kang, Eun Young; Lee, Nam Joon; Suh, Won Hyuck [Korea University College of Medicine, Seoul (Korea, Republic of)

    1989-12-15

    The relationship between myasthenia gravis and the thymus was well establish and myasthenia gravis occurs in the presence of thymic hyperplasia or thymoma or occasionally in histologically normal thymus. Since not every patients with myasthenia gravis is a candidate for thymectomy, unless a thymoma is present, the differentiation of normal and hyperplastic thymus from thymoma becomes important. Authors reviewed retrospectively clinical records and chest CT scans of 18 patients with myasthenia gravis who underwent thymectomy during recent 5 years, to evaluate the role of CT scan. The results were as follows. 1 Of total 18 cases, 5 cases had normal thymus, 6 cases had thymic hyperplasia, 4 cases had benign thymoma and 3 cases had malignant thymoma. 2. Of 5 cases of normal thymus, no false positive cases were noted in CT scan. 3. Of 6 cases of thymic hyperplasia, CT findings were normal except 1 cases of thickened left thymic lobe. 4. Of 7 cases of thymoma, no false negative cases were noted in CT scan. 5. CT findings of benign thymoma were round or oval shaped, discrete, slightly enhancing soft tissue mass in anterior mediastinum. 6. CT findings of malignant thymoma were lobulated contoured, infiltrative, soft tissue mass lesion in anterior mediastinum with calcifications, pleural tumor implants, and SVC compression. CT yielded valuable information on differential diagnosis of thymoma, thymic hyperplasia and normal thymus. Also CT was a highly sensitive method in the detection of thymoma and determining the extent and invasiveness.

  13. Ocular myasthenia gravis in a setting of thyrotoxicosis

    OpenAIRE

    Sarabjeet Chhabra; Pruthvi, B. C.

    2013-01-01

    Ocular myasthenia gravis in conjunction with thyroid disorders, although rare, has been reported in the past. However, the similarity in the presentation of both the entities and the tendency of myasthenia gravis to get overlooked easily, even by experienced clinicians, necessitates a thorough knowledge, a strong consideration, and a vigilant approach, to aid in its diagnosis. We discuss a case of a female in a thyrotoxic state, with symptoms of ocular myasthenia gravis, and a brief overview ...

  14. Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?

    Science.gov (United States)

    Del Mar Amador, Maria; Vandenberghe, Nadia; Berhoune, Nawel; Camdessanché, Jean-Philippe; Gronier, Sophie; Delmont, Emilien; Desnuelle, Claude; Cintas, Pascal; Pittion, Sophie; Louis, Sarah; Demeret, Sophie; Lenglet, Timothée; Meininger, Vincent; Salachas, François; Pradat, Pierre-François; Bruneteau, Gaëlle

    2016-06-01

    Myasthenia gravis is an autoimmune disorder affecting neuromuscular junctions that has been associated with a small increased risk of amyotrophic lateral sclerosis (ALS). Here, we describe a retrospective series of seven cases with a concomitant diagnosis of ALS and myasthenia gravis, collected among the 18 French reference centers for ALS in a twelve year period. After careful review, only six patients strictly met the diagnostic criteria for both ALS and myasthenia gravis. In these patients, limb onset of ALS was reported in five (83%) cases. Localization of myasthenia gravis initial symptoms was ocular in three (50%) cases, generalized in two (33%) and bulbar in one (17%). Median delay between onset of the two conditions was 19 months (6-319 months). Anti-acetylcholine receptor antibodies testing was positive in all cases. All patients were treated with riluzole and one had an associated immune-mediated disease. In the one last ALS case, the final diagnosis was false-positivity for anti-acetylcholine receptor antibodies. The co-occurrence of ALS and myasthenia gravis is rare and requires strict diagnostic criteria. Its demonstration needs thoughtful interpretation of electrophysiological results and exclusion of false positivity for myasthenia gravis antibody testing in some ALS cases. This association may be triggered by a dysfunction of adaptive immunity. PMID:27102004

  15. 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

  16. 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

  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. Miastenia gravis juvenil Juvenile myasthenia gravis

    OpenAIRE

    Oscar Papazian; Israel Alfonso; Nayle Araguez

    2009-01-01

    La miastenia gravis juvenil (MGJ) es un trastorno crónico auto inmune en el cual existen anticuerpos séricos que al unirse a los receptores de acetilcolin nicotínicos de la membrana muscular de la placa motora alteran la transmisión neuromuscular. El resultado es fatiga muscular precoz con progresión a la parálisis durante estados de contracción muscular iterativos (movimientos) o sostenidos (posturas) y más raramente parálisis permanente durante el reposo. Los músculos inervados por los nerv...

  19. Epidemiology of myasthenia gravis in Ontario, Canada.

    Science.gov (United States)

    Breiner, Ari; Widdifield, Jessica; Katzberg, Hans D; Barnett, Carolina; Bril, Vera; Tu, Karen

    2016-01-01

    Incidence and prevalence estimates in myasthenia gravis have varied widely. Recent studies based on administrative health data have large sample sizes but lack rigorous validation of MG cases, and have not examined the North American population. Our aim was to explore trends in MG incidence and prevalence for the years 1996-2013 in the province of Ontario, Canada (population 13.5 million). We employed a previously validated algorithm to identify MG cases. Linking with census data allowed for the calculation of crude- and age/sex-standardized incidence and prevalence rates for the years 1996-2013. The regional distribution of MG cases throughout the province was examined. Mean age at the first myasthenia gravis encounter was 60.2 ± 17.1 years. In 2013, there were 3611 prevalent cases in Ontario, and the crude prevalence rate was 32.0/100,000 population. Age- and sex-standardized prevalence rates rose consistently over time from 16.3/100,000 (15.4-17.1) in 1996 to 26.3/100,000 (25.4-27.3) in 2013. Standardized incidence rates remained stable between 1996 (2.7/100,000; 95% CL 2.3-3.0) and 2013 (2.3/100,000; 2.1-2.6). Incidence was highest in younger women and older men, and geographic variation was evident throughout the province. In conclusion, this large epidemiological study shows rising myasthenia gravis prevalence with stable incidence over time, which is likely reflective of patients living longer, possibly due to improved disease treatment. Our findings provide accurate information on the Canadian epidemiology of myasthenia gravis and burden for health care resources planning for the province, respectively. PMID:26573434

  20. Effectiveness of steroid treatment in myasthenia gravis: a retrospective study.

    Science.gov (United States)

    Cosi, V; Citterio, A; Lombardi, M; Piccolo, G; Romani, A; Erbetta, A

    1991-07-01

    The records of 142 patients with generalized autoimmune myasthenia gravis who had been treated with steroids as the single immunosuppressive agent, collected at regular intervals, were employed for a retrospective evaluation. The effectiveness of treatment was assessed after 24 months; the data from the 6th and 12th months were also considered. After 24 months, 63.4% of the whole sample had improved (33.8% were in clinical or pharmacological remission); 13.4% were unchanged or had worsened and 22.3% had moved to a different immunosuppressive treatment. The rate of positive outcome was higher in patients over the age of 40 at disease onset. PMID:1927259

  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 presenting as acute vocal cord paresis

    OpenAIRE

    Khan, Muhammad Kamaal; Powell, Steven M.; Hartley, Chris; Cleland, Peter

    2010-01-01

    Myasthenia gravis is a condition rarely seen by otolaryngologists. We present a case of bilateral vocal cord paresis caused by previously undiagnosed myasthenia gravis. A tracheostomy was required after initial presentation and after a relapse. The airway management, neurological diagnosis and medical treatment are discussed.

  3. Myasthenia gravis and masticatory muscle myositis in a dog

    OpenAIRE

    Clooten, Jennifer K.; Woods, J. P.; Smith-Maxie, Laura L.

    2003-01-01

    A 21-month-old, castrated male Vizsla was presented for pelvic limb weakness, difficulty opening his mouth, ptyalism, voice change, and urinary incontinence. Myasthenia gravis and masticatory myositis were diagnosed. The unusual clinical findings, diagnosis, treatment, and case outcome are described, followed by a brief discussion of myasthenia gravis and masticatory myositis.

  4. Steroids induce acetylcholine receptors on cultured human muscle: Implications for myasthenia gravis

    International Nuclear Information System (INIS)

    Antibodies to the acetylcholine receptor (AChR), which are diagnostic of the human autoimmune disease myasthenia gravis, block AChR function and increase the rate of AChR degradation leading to impaired neuromuscular transmission. Steroids are frequently used to alleviate symptoms of muscle fatigue and weakness in patients with myasthenia gravis because of their well-documented immunosuppressive effects. The authors show here that the steroid dexamethasone significantly increases total surface AChRs on cultured human muscle exposed to myasthenia gravis sera. The results suggest that the clinical improvement observed in myasthenic patients treated with steroids is due not only to an effect on the immune system but also a direct effect on muscle. They propose that the identification and development of pharmacologic agents that augment receptors and other proteins that are reduced by human genetic or autoimmune disease will have broad therapeutic applications

  5. Steroids induce acetylcholine receptors on cultured human muscle: Implications for myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Kaplan, I.; Blakely, B.T.; Pavlath, G.K.; Travis, M.; Blau, H.M. (Stanford Univ. School of Medicine, CA (USA))

    1990-10-01

    Antibodies to the acetylcholine receptor (AChR), which are diagnostic of the human autoimmune disease myasthenia gravis, block AChR function and increase the rate of AChR degradation leading to impaired neuromuscular transmission. Steroids are frequently used to alleviate symptoms of muscle fatigue and weakness in patients with myasthenia gravis because of their well-documented immunosuppressive effects. The authors show here that the steroid dexamethasone significantly increases total surface AChRs on cultured human muscle exposed to myasthenia gravis sera. The results suggest that the clinical improvement observed in myasthenic patients treated with steroids is due not only to an effect on the immune system but also a direct effect on muscle. They propose that the identification and development of pharmacologic agents that augment receptors and other proteins that are reduced by human genetic or autoimmune disease will have broad therapeutic applications.

  6. Animal models of myasthenia gravis: utility and limitations

    Directory of Open Access Journals (Sweden)

    Mantegazza R

    2016-03-01

    Full Text Available Renato Mantegazza, Chiara Cordiglieri, Alessandra Consonni, Fulvio Baggi Neurology IV Unit, Neuroimmunology and Neuromuscular Disorders, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy Abstract: Myasthenia gravis (MG is a chronic autoimmune disease caused by the immune attack of the neuromuscular junction. Antibodies directed against the acetylcholine receptor (AChR induce receptor degradation, complement cascade activation, and postsynaptic membrane destruction, resulting in functional reduction in AChR availability. Besides anti-AChR antibodies, other autoantibodies are known to play pathogenic roles in MG. The experimental autoimmune MG (EAMG models have been of great help over the years in understanding the pathophysiological role of specific autoantibodies and T helper lymphocytes and in suggesting new therapies for prevention and modulation of the ongoing disease. EAMG can be induced in mice and rats of susceptible strains that show clinical symptoms mimicking the human disease. EAMG models are helpful for studying both the muscle and the immune compartments to evaluate new treatment perspectives. In this review, we concentrate on recent findings on EAMG models, focusing on their utility and limitations. Keywords: myasthenia gravis, autoimmunity, neuroimmunology, AChR

  7. 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.

  8. 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...

  9. 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...

  10. Treatment of experimental myasthenia gravis with total lymphoid irradiation

    Energy Technology Data Exchange (ETDEWEB)

    de Silva, S.; Blum, J.E.; McIntosh, K.R.; Order, S.; Drachman, D.B.

    1988-07-01

    Total lymphoid irradiation (TLI) has been reported to be effective in the immunosuppressive treatment of certain human and experimental autoimmune disorders. We have investigated the effects of TLI in Lewis rats with experimental autoimmune myasthenia gravis (EAMG) produced by immunization with purified torpedo acetylcholine receptor (AChR). The radiation is given in 17 divided fractions of 200 rad each, and nonlymphoid tissues are protected by lead shielding. This technique suppresses the immune system, while minimizing side effects, and permits the repopulation of the immune system by the patient's own bone marrow cells. Our results show that TLI treatment completely prevented the primary antibody response to immunization with torpedo AChR, it rapidly abolished the ongoing antibody response in established EAMG, and it suppressed the secondary (anamnestic) response to a boost of AChR. No EAMG animals died during TLI treatment, compared with six control animals that died of EAMG. TLI produces powerful and prompt immunosuppression and may eventually prove useful in the treatment of refractory human myasthenia gravis.

  11. Treatment of experimental myasthenia gravis with total lymphoid irradiation

    International Nuclear Information System (INIS)

    Total lymphoid irradiation (TLI) has been reported to be effective in the immunosuppressive treatment of certain human and experimental autoimmune disorders. We have investigated the effects of TLI in Lewis rats with experimental autoimmune myasthenia gravis (EAMG) produced by immunization with purified torpedo acetylcholine receptor (AChR). The radiation is given in 17 divided fractions of 200 rad each, and nonlymphoid tissues are protected by lead shielding. This technique suppresses the immune system, while minimizing side effects, and permits the repopulation of the immune system by the patient's own bone marrow cells. Our results show that TLI treatment completely prevented the primary antibody response to immunization with torpedo AChR, it rapidly abolished the ongoing antibody response in established EAMG, and it suppressed the secondary (anamnestic) response to a boost of AChR. No EAMG animals died during TLI treatment, compared with six control animals that died of EAMG. TLI produces powerful and prompt immunosuppression and may eventually prove useful in the treatment of refractory human myasthenia gravis

  12. 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

  13. 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

  14. 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

  15. Animal models of myasthenia gravis: utility and limitations

    Science.gov (United States)

    Mantegazza, Renato; Cordiglieri, Chiara; Consonni, Alessandra; Baggi, Fulvio

    2016-01-01

    Myasthenia gravis (MG) is a chronic autoimmune disease caused by the immune attack of the neuromuscular junction. Antibodies directed against the acetylcholine receptor (AChR) induce receptor degradation, complement cascade activation, and postsynaptic membrane destruction, resulting in functional reduction in AChR availability. Besides anti-AChR antibodies, other autoantibodies are known to play pathogenic roles in MG. The experimental autoimmune MG (EAMG) models have been of great help over the years in understanding the pathophysiological role of specific autoantibodies and T helper lymphocytes and in suggesting new therapies for prevention and modulation of the ongoing disease. EAMG can be induced in mice and rats of susceptible strains that show clinical symptoms mimicking the human disease. EAMG models are helpful for studying both the muscle and the immune compartments to evaluate new treatment perspectives. In this review, we concentrate on recent findings on EAMG models, focusing on their utility and limitations. PMID:27019601

  16. Current and emerging therapies for the treatment of myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Renato Mantegazza

    2011-03-01

    Full Text Available Renato Mantegazza, Silvia Bonanno, Giorgia Camera, Carlo AntozziDepartment of Neuromuscular Diseases and Neuroimmunology, Fondazione Istituto Neurologico Carlo Besta, Milan, ItalyAbstract: Myasthenia gravis (MG is an autoimmmune disease in which autoantibodies to different antigens of the neuromuscular junction cause the typical weakness and fatigability. Treatment includes anticholinesterase drugs, immunosuppression, immunomodulation, and thymectomy. The autoimmune response is maintained under control by corticosteroids frequently associated with immunosuppressive drugs, with improvement in the majority of patients. In case of acute exacerbations with bulbar symptoms or repeated relapses, modulation of autoantibody activity by plasmapheresis or intravenous immunoglobulins provides rapid improvement. Recently, techniques removing only circulating immunoglobulins have been developed for the chronic management of treatment-resistant patients. The rationale for thymectomy relies on the central role of the thymus. Despite the lack of controlled studies, thymectomy is recommended as an option to improve the clinical outcome or promote complete remission. New videothoracoscopic techniques have been developed to offer the maximal surgical approach with the minimal invasiveness and hence patient tolerability. The use of biological drugs such as anti-CD20 antibodies is still limited but promising. Studies performed in the animal model of MG demonstrated that several more selective or antigen-specific approaches, ranging from mucosal tolerization to inhibition of complement activity or cellular therapy, might be feasible. Investigation of the transfer of these therapeutic approaches to the human disease will be the challenge for the future.Keywords: myasthenia gravis, therapy, immunosuppression, thymectomy, plasmapheresis

  17. 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 ...

  18. 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.

  19. Portal hypertension secondary to azathioprine in myasthenia gravis.

    OpenAIRE

    Fonseca, V.; Havard, C W

    1988-01-01

    A 52 year old man with myasthenia gravis and normal liver function was treated with neostigmine, prednisolone and azathioprine. Three years after starting azathioprine he developed clinical evidence of portal hypertension. A liver biopsy showed nodular regenerative hyperplasia (NRH). The development of NRH following azathioprine treatment in a patient with myasthenia gravis strengthens the case for a causal role of azathioprine in producing NRH and portal hypertension.

  20. Anaesthetic Management of Myasthenia Gravis with Thymic Mass in Facial Trauma

    OpenAIRE

    Deepak Sharma; Dheer Singh

    2010-01-01

    Myasthenia gravis is an immunologic disorder characterised by polyclonal antibodies directed against nicotinic acetylcholine receptors at postneuromuscular junction. This case describes perioperative management of a patient suffering facial trauma with underlying myasthenia gravis with thymic mass

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Myasthenia gravis and invasive thymoma with multiple intracranial metastases.

    Science.gov (United States)

    Koç, Filiz; Yerdelen, Deniz; Sarica, Yakup

    2003-06-01

    Myasthenia gravis (MG) is an autoimmune disease. Approximately 15% of patients with MG have thymoma. Approximately 30% to 40% of them are invasive. A 26-year-old man was admitted with cough and difficulty breathing. He had transsternal thymectomy resulting from MG accompanied by thymoma 6 years previously. Thorax computerized tomography (CT) scans showed metastases to the extra-mediastinum. Diagnosis of invasive thymoma was made by CT-guided biopsy. A PAC regimen (cisplatin, doxorubicin, cyclophosphamide) and radiotherapy were added to MG treatment. Ten months later, he presented again with headache, weakness, and difficulty swallowing. We determined that he had intracranial multiple metastases. He was hospitalized. Cerebral multiple metastases were evaluated as inoperable. However, he died of transtentorial herniation after 1 month. This MG case accompanied by invasive thymoma with multiple intracranial metastases is discussed. PMID:19078711

  3. 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

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

    Science.gov (United States)

    Chogtu, Bharti; Malik, Daliparty Vasudev

    2016-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  6. [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

  7. Juvenile myasthenia

    OpenAIRE

    Knežević-Pogančev Marija

    2011-01-01

    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 communicati...

  8. Recurrence of thymoma with pleural invasion in a patient with myasthenia gravis and pure red blood cell aplasia: a case report

    International Nuclear Information System (INIS)

    Thymoma are thymic tumors that arise from epithelial cells, they have different morphological characteristics. It is known for its association with autoimmune diseases such as myasthenia gravis, pure red cell aplasia, systemic lupus erythematosus, or hipogamaglobulinemia pemphigus foliaceus. The association thymoma-myasthenia gravis-pure red cell aplasia is a rare one; there will be a case report with the corresponding discussion and review of the literature

  9. Epidemiology of myasthenia gravis with anti‐muscle specific kinase antibodies in the Netherlands

    OpenAIRE

    Niks, Erik H.; Kuks, Jan B. M.; Verschuuren, Jan J.G.M.

    2006-01-01

    The epidemiology of myasthenia gravis subtypes and the frequency of antibodies to muscle‐specific kinase (MuSK) was studied in patients with generalised myasthenia gravis without anti‐acetylcholine receptor antibodies who had an onset of symptoms between 1990 and 2004 in a well‐defined region in the Netherlands. The nationwide prevalence and incidence of myasthenia gravis with anti‐MuSK antibodies were also studied. MuSK antibodies were found in 22% of patients with generalised myasthenia gra...

  10. 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

  11. Visualization of the thymus in myasthenia gravis

    International Nuclear Information System (INIS)

    We investigated whether CT had any advantage over pneumomediastinography (PMG) for the visualization of thymus in twenty-one patients with myasthenia gravis (MG). In two cases of thymoma which had been suspected with chest radiography, CT demonstrated an anterior mediastinal tumor distinguishable from other mediastinal organs, and for these cases PMG was not performed. Excluding three patients who were submitted to PMG only, CT of the anterior mediastinum was carried out in sixteen patients of MG, revealing thymic shadows in seven (44%). PMG followed by conventional tomography was done subsequently in three of these seven cases, for whom thymectomy was indicated because of uncontrollable myasthenic symptoms, and in all patients finger-like thymic shadows were disclosed. The vertical extension of thymus was more easily demonstrable by PMG than CT. PMG was carried out in six of nine patients in whom CT was negative, and in all cases thymic shadows were obvious with subsequent conventional tomography. Consequently, false negative rate of CT was at least 38% (6/16) with regard to the visualization of the nontumorous thymus. Although CT of the anterior mediastinum is useful as a screening method because of its non-invasiveness, its negative result does not rule out an absence of the pathologic thymus in view of its high false negative rate. In this regard, PMG is still necessary for the final determination of the thymic configuration in the MG patients. (J.P.N.)

  12. Myasthenia Gravis Presentation After a Cervical Laminectomy With Fusion.

    Science.gov (United States)

    Deters, Darlene; Fowler, Stephanie L; Orozco, Raymundo; Smith, Patrick R; Spurlock, Shelby; Blackmon, Darlene; Thomas, Samantha

    2016-01-01

    Myasthenia gravis is a chronic neuromuscular disorder that causes skeletal muscle weakness. Typically, myasthenia gravis affects the ocular, bulbar, neck, proximal limbs, and respiratory muscles. Although the presentation is typically observed with complaints of vision and bulbar symptoms such as diplopia, dystonia, and dysphagia, this article presents a case study of an elderly man with a history of increasing upper extremity weakness with complaints of worsening hand dexterity and intermittent episodes of expressive aphasia. After cervical laminectomy with fusion, this gentleman was admitted to the medical intensive care unit, in a complete myasthenic crisis. PMID:27258955

  13. 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.

  14. 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

  15. Muscle-Specific Receptor Tyrosine Kinase (MuSK) Myasthenia Gravis.

    Science.gov (United States)

    Hurst, Rebecca L; Gooch, Clifton L

    2016-07-01

    Autoimmune myasthenia gravis (MG) is the prototypic, antibody-mediated neuromuscular disease and is characterized by a decrease in the number of functional acetylcholine receptors (AChR) within the muscle end plate zone of the neuromuscular junction (NMJ). Although the pathophysiology of AChR-mediated myasthenia gravis has been extensively studied over the last 40 years since its original description by Patrick and Lindstrom (Science 180:871-872, 1973), less is known about the much more recently described muscle-specific kinase (MuSK) antibody-mediated MG. MuSK-MG has features clinically distinct from Ach-R MG, as well as a different pattern of response to treatment and a unique immunopathogenesis. PMID:27170368

  16. 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

  17. Ectopic cervical thymoma in a patient with Myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Chang Hung

    2011-07-01

    Full Text Available Abstract Ectopic cervical thymoma is rare and is often misdiagnosed as a thyroid tumor or other malignancy. Ectopic thymic tissue can be found along the entire thymic descent path during embryogenesis. However, a thymoma arising from such ectopic thymic tissue is extremely rare. Herein we report a patient with ectopic cervical thymoma and myasthenia gravis (MG and discuss the management.

  18. Valence of acetylcholine-receptor-antibody-titers in myasthenia gravis

    International Nuclear Information System (INIS)

    In a retrospective study in 47 patients with myasthenia gravis acetylcholine-receptor-antibody-titers (AChR-AB) were correlated with the severity of the disease. In 18 patients the course of titers was studied and two groups of patients could be differentiated: patients with relative constant and patients with fluctuating titers. Age, age of begin of myasthenia and sex did not influence the titers. Also the duration of the disease and the severity of symptoms did not influence the level of AChR-AB-titers. In this retrospective study the influence of immunsuppressive therapy on the intra-individual course of AB-titers and their correlation with the clinical symptoms could not be judged. Measurement of AChR-AB is of value for the diagnosis of myasthenia gravis and important for judging the clinical course and the effect of therapy. (Author)

  19. Total body irradiation for myasthenia gravis with thymoma: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Ki Mun; Choi, Ihl Bohng; Kim, In Ah [College of Medicine, Catholic Univ., Seoul (Korea, Republic of)

    1999-06-01

    Myasthenia Gravis (MG) is relatively rare occuring as one of important autoimmune disease to affect neuromuscular junction. This study was clinically to evaluate total body irradiation (TBI) against two patients including 33-year and 39-year females for chronic MG with thymoma who hospitalized in the St. Mary's Hospital, Catholic University since 1994 as well as who showed no response by thymectomy, immunotherapy and hormonal therapy. TBI designed by the dose of 150-180 cGy consisting of 10 cGy per fraction, three times a week, for 5-6 weeks using linear accelerator of 6 MV. During the treatment of TBI, they did complain acute side effect such as vomiting and also appear improved physical condition from 4-6 weeks after TBI. Through the follow-up period of 18 or 42 months after TBI, they did not have any symptomatic recurrence. Consequently, the results suggest that TBI can be used as an alternative tool for the patients concurrently for MG with thymoma who had been refractory to various conventional therapies like thymectomy, immunotherapy and hormonal therapy.

  20. Total body irradiation for myasthenia gravis with thymoma: case report

    International Nuclear Information System (INIS)

    Myasthenia Gravis (MG) is relatively rare occuring as one of important autoimmune disease to affect neuromuscular junction. This study was clinically to evaluate total body irradiation (TBI) against two patients including 33-year and 39-year females for chronic MG with thymoma who hospitalized in the St. Mary's Hospital, Catholic University since 1994 as well as who showed no response by thymectomy, immunotherapy and hormonal therapy. TBI designed by the dose of 150-180 cGy consisting of 10 cGy per fraction, three times a week, for 5-6 weeks using linear accelerator of 6 MV. During the treatment of TBI, they did complain acute side effect such as vomiting and also appear improved physical condition from 4-6 weeks after TBI. Through the follow-up period of 18 or 42 months after TBI, they did not have any symptomatic recurrence. Consequently, the results suggest that TBI can be used as an alternative tool for the patients concurrently for MG with thymoma who had been refractory to various conventional therapies like thymectomy, immunotherapy and hormonal therapy

  1. Myasthenia gravis - autoantibody characteristics and their implications for therapy.

    Science.gov (United States)

    Gilhus, Nils Erik; Skeie, Geir Olve; Romi, Fredrik; Lazaridis, Konstantinos; Zisimopoulou, Paraskevi; Tzartos, Socrates

    2016-05-01

    Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies that target the neuromuscular junction, leading to muscle weakness and fatigability. Currently available treatments for the disease include symptomatic pharmacological treatment, immunomodulatory drugs, plasma exchange, thymectomy and supportive therapies. Different autoantibody patterns and clinical manifestations characterize different subgroups of the disease: early-onset MG, late-onset MG, thymoma MG, muscle-specific kinase MG, low-density lipoprotein receptor-related protein 4 MG, seronegative MG, and ocular MG. These subtypes differ in terms of clinical characteristics, disease pathogenesis, prognosis and response to therapies. Patients would, therefore, benefit from treatment that is tailored to their disease subgroup, as well as other possible disease biomarkers, such as antibodies against cytoplasmic muscle proteins. Here, we discuss the different MG subtypes, the sensitivity and specificity of the various antibodies involved in MG for distinguishing between these subtypes, and the value of antibody assays in guiding optimal therapy. An understanding of these elements should be useful in determining how to adapt existing therapies to the requirements of each patient. PMID:27103470

  2. Treatment of myasthenia gravis with high-dose intravenous immunoglobulin.

    Science.gov (United States)

    Cosi, V; Lombardi, M; Piccolo, G; Erbetta, A

    1991-08-01

    We treated 37 patients affected by autoimmune generalized myasthenia gravis (MG) with high-dose intravenous gammaglobulin (HDIVIg), 400 mg/kg per day on 5 consecutive days. A one-degree improvement of Oosterhuis global clinical classification of myasthenic severity (OGCCMS), the disappearance of bulbar involvement or both were recorded 12 days after the beginning of the treatment in 70.3% of the patients and persisted up to 60 days in 58.7%. A two-degree improvement of OGCCMS was recorded in 54.1% of the patients and it was maintained up to 60 days in 37.8%. The percentage of improvement did not significantly differ between patients entering the treatment in a long-standing, drug-refractory stationary phase of the illness (n = 26) and patients who received HDIVIg in an acute phase of MG (n = 11). None of the patients experienced side effects. Our data indicates that HDIVIg is an interesting, virtually riskless therapeutic choice for MG patients, and allows the planning of a controlled trial versus plasma-exchange. PMID:1950455

  3. Three Types of Striational Antibodies in Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    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. 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.

  5. Effects of thymectomy on multiple sclerosis with myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Masoud Etemadifar

    2014-09-01

    Full Text Available Multiple sclerosis (MS is the most common chronic autoimmune neuromuscular disease with prevalence rates that has increased in Iran especially in Isfahan population. In MS, there is a coordinated attack of innate and adaptive immune cell against central nervous system (CNS. Concurrence of autoimmune disorders is prevalent such as the concurrence of MS and myasthenia gravis (MG. MS could be associated with MG although they have different target organs. The aim of this study was to assess the effects of thymectomy as a proper treatment for both MS and MG. We studied patients who were referred to our MS clinic with the diagnosis of definite MS and MG made by a neurologist according to Isfahan MS Clinics, Isfahan, Iran (2010-2013. Age, sex, family and medical history, general neurologic symptoms and physical examination in all patients were recorded. We analyzed the clinical, laboratory, and brain magnetic resonance imaging (MRI findings of the patients with MS and MG in an attempt to identify parameters involved in these diseases. We surveyed 12 patients (0.3% out of 3920 patients who had both MS and MG. One of these patients had secondary progressive MS and the others had relapsing-remitting MS (RRMS. Five of them experienced thymectomy operation and about 4 (80% of them completely improved after thymectomy, none of the symptoms of diseases were seen. Almost all of patients completely improved after thymus removal. We suggest thymectomy could be a valuable therapy for MS/ MG patients. However, more investigations should be done on this issue. 

  6. 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

  7. Bleeding Jejunal Diverticulosis in a Patient with Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    F. Kullmann

    2008-03-01

    Full Text Available A seventy-year-old male presented with severe myasthenia gravis and an episode of obscure bleeding. There was a history of gastric ulcer leading to Billroth II surgery twenty-five years ago. Upper endoscopy revealed no pathology. Colonoscopy showed a few solitary diverticula and traces of old blood in the terminal ileum. Capsule endoscopy pictured red smear in the upper jejunum. Diverticula were seen as well. Suspecting bleeding jejunal diverticulosis double balloon enteroscopy was performed. The complete jejunal ascending loop and about 100 cm of the jejunum through the descending jejunal loop could be inspected. Large diverticula with fecoliths were found in both loops. Bleeding had ceased. The patient was discharged to neurology for optimizing therapy for myasthenia gravis.

  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. Computed tomography of the mediastinum in myasthenia gravis

    International Nuclear Information System (INIS)

    Computed tomography of the mediastinum was performed in 45 patients with myasthenia gravis. Surgery was carried out in fourteen. Amongst these, there were four thymomas, one thymolipoma, eight thymic hyperplasias and one normal thymus gland. A further patient, who did not have surgery, probably also had a thymic tumour. The normal thymus and thymic hyperplasia cannot be distinguished on computed tomography. Differentiation of small thymomas from normal thymus is not always possible. Invasion by thymomas can only be appreciated with large tumours. (orig.)

  11. Computed tomography of the mediastinum in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Guertler, K.F.; Janzen, R.W.C.; Hagemann, J.; Otto, H.F.

    1982-01-01

    Computed tomography of the mediastinum was performed in 45 patients with myasthenia gravis. Surgery was carried out in fourteen. Amongst these, there were four thymomas, one thymolipoma, eight thymic hyperplasias and one normal thymus gland. A further patient, who did not have surgery, probably also had a thymic tumour. The normal thymus and thymic hyperplasia cannot be distinguished on computed tomography. Differentiation of small thymomas from normal thymus is not always possible. Invasion by thymomas can only be appreciated with large tumours.

  12. 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

  13. Thymoma-associated exfoliative dermatitis with post-thymectomy myasthenia gravis in a cat

    OpenAIRE

    Singh, Ameet; Boston, Sarah E.; Poma, Roberto

    2010-01-01

    Thymoma-associated exfoliative dermatitis was suspected in a cat with a cranial mediastinal mass. The dermatopathy resolved with surgical removal of a thymoma. The cat manifested neurologic signs consistent with myasthenia gravis 7 wk after surgery. Exfoliative dermatitis and post-thymectomy myasthenia gravis in the same cat has not been reported previously.

  14. Can myasthenia gravis be diagnosed with the `ice pack test'? A cautionary note

    OpenAIRE

    Larner, A.; D. Thomas

    2000-01-01

    The ice pack test may be helpful in establishing that ptosis is due to ocular myasthenia gravis, since cold improves neuromuscular transmission. However, the role of the test in determining whether diplopia is of myasthenic origin has yet to be established.


Keywords: myasthenia gravis; diplopia; ice pack test

  15. [Surgical treatment of myasthenia gravis in children].

    Science.gov (United States)

    Iudin, Ia B; Kogan, O G; Prokopenko, Iu D; Klepikov, I I; Vusik, G V; Fedorov, K K; Ivanov, V V; Diupin, V A; Merzeniuk, O S

    1989-11-01

    The article deals with the treatment of myasthenia in 33 children whose ages ranged from 3 to 15 years. Myasthenia of moderate severity was diagnosed in 14, severe in 15, and extremely severe in 2 children. To make a precise diagnosis, loading, neostigmine methylsulfate, cold, and D-tubocurarine tests were conducted. Thymectomy was performed in 32 patients. The operation was carried out through a T-shaped sternotomy approach. Thymogenic myasthenia was verified in 31 patients and thymomogenic only in one patient. There were no fatal outcomes. The late-term results were studied in 12 patients in follow-up periods of 3 to 6 years. Adaptational activity of the patients, anticholinesterase agents and the results of stimulant electric myography served as the criterion in appraising the late-term results. Modern diagnostic methods and surgical intervention ensure a favourable result in 75% of patients. PMID:2615272

  16. Tacrolimus for myasthenia gravis: a clinical study of 212 patients.

    Science.gov (United States)

    Ponseti, José M; Gamez, Josep; Azem, Jamal; López-Cano, Manuel; Vilallonga, Ramón; Armengol, Manuel

    2008-01-01

    Tacrolimus is a macrolide T cell immunomodulator that is used in myasthenia gravis (MG) patients to affect muscle contraction (ryanodine receptor by modulating intracellular calcium-release channels and increasing muscular strength), glucocorticoid receptors (increasing intracellular concentration of steroids and blocking the steroid export mechanism), and an increase in T cell apoptosis. In this study, we report the results of low-dose tacrolimus (0.1 mg/kg/day) treatment in 212 MG patients. There were 110 thymectomized, cyclosporine- and prednisone-dependent patients; 68 thymectomized patients who started tacrolimus early postoperatively (24 h after operation); and 34 patients over 60 years old with nonthymomatous generalized MG or in whom thymectomy was contraindicated. The mean follow-up time was 49.3 +/- 18.1 months. Muscular strength showed an increase of 23% after 1 month of treatment and 29% at the end of the study. The acetylcholine receptor antibodies decreased significantly from a mean of 33.5 nmol/L at base line to 7.8 nmol/L at the final visit. In the thymectomy group with combined prednisone and tacrolimus stratified by histology of the thymus, the mean probability to attain complete stable remission at 5 years was 80.8% in patients with hyperplasia, 48.1% in thymic involution, and 9.3% in patients with thymoma. In 4.9% of patients, tacrolimus was withdrawn because of major adverse effects. Our results suggest that a low dose of tacrolimus is effective for MG and could be included to the armamentarium for this autoimmune disease. The present results should be interpreted considering the limitations of a retrospective clinical study. Confirmation of these results in randomized studies is desirable. PMID:18096852

  17. The mechanism of acetylcholine receptor in binding MuSK in myasthenia gravis and the role of HSP90 molecular chaperone

    Science.gov (United States)

    Chen, Rongbo; Chen, Siqia; Liao, Juan; Chen, Xiaopu; Xu, Xiaoling

    2016-01-01

    As an autoimmune disease, myasthenia gravis is caused by the dysfunction of neural transmission. Acetylcholine is known to exert its function after entering into synaptic cleft through binding onto postsynaptic membrane. The role of acetylcholine in binding MuSK in myasthenia gravis, however, remains unknown. A total of 38 myasthenia gravis patients and 27 healthy controls were included in this study for the detection of the expression of MuSK using immunofluorescent method. Expression of both MuSK and interleukin-6 (IL-6) were measured by Western blot, followed by the correlation analysis between heat shock protein 90 (HSP90) and IL-6 which were measured by enzyme-linked immunosorbent assay (ELISA). In myasthenia gravis patients, MuSK was co-localized with acetylcholine at the postsynaptic membrane. Such accumulation of MuSK, however, did not occur in normal people. Meanwhile we also observed elevated expression of IL-6 in myasthenia gravis patients (pmyasthenia gravis patients, with elevated expression. HSP90 in disease people can activate IL-6 mediated signaling pathways. PMID:27186300

  18. 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...

  19. Ocular Myasthenia Gravis, Hashimoto’s Thyroiditis, Iron Deficiency Anemia, and Reactive Hypoglycemia

    Directory of Open Access Journals (Sweden)

    Füsun Mayda Domaç

    2009-06-01

    Full Text Available Myasthenia gravis (MG may occur in association with other organ- specific or nonspecific autoimmune diseases. In our study, we present a patient with ocular myasthenia, Hashimoto’s thyroiditis, and iron deficiency anemia who later developed reactive hypoglycemia. A 25-year-old woman with complaints of fluctuating extraocular muscle weakness, ptosis, and diplopia was examined. MG, type I (ocular MG, was confirmed by an elevated titer of anti-acetylcholine receptor antibodies in serum (7 nmol/l, normal <0.6 and positive edrophonium test. Nerve conduction studies, needle electromyography, repetitive stimulation tests, and mediasten MRI were normal. The coexistence of Hashimoto's thyroiditis was diagnosed by the presence of a diffuse thyroid enlargement, elevated titers of anti-thyroglobulin antibodies (211.8 IU/ml, normal 0-115, thyroid peroxidase antibodies (356.4 IU/ml, normal 0-34, thyroid stimulating hormone (8.21 uIU/ml, normal 0.27-4.2, and a decreased titer of free-T4 (1.03ng/dl normal 1.8-4.6. Diplopia and ptosis have regressed with 180 mg/day pyridostigmine bromide. On her follow-up period, 8 months later, reactive hypoglycemia has been diagnosed. The coexistence of myastenia gravis, Hashimoto’s thyroiditis and reactive hypoglycemia was not found in the literature. We should take into consideration the association and the importance of recognizing and treating these pathologies in myastenia gravis. Turk Jem 2009; 13: 31-3

  20. Myasthenia gravis: determinants for independent ventilation after transsternal thymectomy.

    Science.gov (United States)

    Younger, D S; Braun, N M; Jaretzki, A; Penn, A S; Lovelace, R E

    1984-03-01

    We evaluated the respiratory function of 32 patients with myasthenia gravis who had transsternal thymectomy. Preoperative clinical, pulmonary function, and respiratory muscle pressure data were submitted to stepwise logistic regression analysis to identify preoperative factors that correlated with duration of supported ventilation after surgery. Ten patients (31%) had postoperative supported ventilation for more than 3 days. The duration of ventilatory support correlated most closely with maximal static expiratory pressure (r = 0.714, p less than 0.001). Expiratory weakness, by reducing cough efficacy, seems to be the main determinant that predicts need for longer postoperative supported ventilation. PMID:6538272

  1. 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.

  2. Computed tomography of the thymus gland in myasthenia gravis

    International Nuclear Information System (INIS)

    Sixteen consecutive patients with myasthenia gravis were examined by computed tomography (CT) before thymectomy. Surgical and histologic findings were compared with those obtained at CT. The results, like those of most other recent studies, indicate that CT is a reliable method for identifying thymoma. In all three patients with thymoma, and in five out of eight patients with hyperplasia, the lesion was observed at CT, giving an overall accuracy of 80%. Although tymic hyperplasia is a basically histological diagnosis an enlarged gland may give a correct diagnosis of this abnormality. (orig.)

  3. Computed tomography of the thymus gland in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Thorvinger, B.; Lyttkens, K.; Samuelsson, L.

    Sixteen consecutive patients with myasthenia gravis were examined by computed tomography (CT) before thymectomy. Surgical and histologic findings were compared with those obtained at CT. The results, like those of most other recent studies, indicate that CT is a reliable method for identifying thymoma. In all three patients with thymoma, and in five out of eight patients with hyperplasia, the lesion was observed at CT, giving an overall accuracy of 80%. Although tymic hyperplasia is a basically histological diagnosis an enlarged gland may give a correct diagnosis of this abnormality.

  4. The value of computed tomography in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Brown, L.R.; Muhm, J.R.; Sheedy, P.F. II; Unni, K.K.; Bernatz, P.E.; Hermann, R.C. Jr.

    1983-01-01

    In a 5 year study, 19 patients with myasthenia gravis were studied by computed tomography (CT) and underwent thymectomy. CT was accurate in detecting the nine true thymic masses but could not differentiate thymomas from nonthymomatous masses, including thymic cysts. No thymoma was found in a patient under 25 years of age. In one case, the 18 sec scanner could not differentiate a large gland from a thymoma. In eight cases, glands with histologic thymic hyperplasia and histologically normal thymus appeared to be similar and could not be differentiated by CT.

  5. The value of computed tomography in myasthenia gravis

    International Nuclear Information System (INIS)

    In a 5 year study, 19 patients with myasthenia gravis were studied by computed tomography (CT) and underwent thymectomy. CT was accurate in detecting the nine true thymic masses but could not differentiate thymomas from nonthymomatous masses, including thymic cysts. No thymoma was found in a patient under 25 years of age. In one case, the 18 sec scanner could not differentiate a large gland from a thymoma. In eight cases, glands with histologic thymic hyperplasia and histologically normal thymus appeared to be similar and could not be differentiated by CT

  6. 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...

  7. 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.

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.

  11. Anti-MuSK myasthenia gravis with prolonged remission.

    Science.gov (United States)

    Bouwyn, Jean Paul; Magnier, Patrick; Bédat-Millet, Anne-Laure; Ahtoy, Patrick; Maltête, David; Lefaucheur, Romain

    2016-07-01

    Myasthenia gravis (MG) with antibodies against muscle-specific tyrosine kinase (MuSK) is a rare disorder of neuromuscular transmission affecting preferentially bulbar, neck and respiratory muscles. We report the case of a 22-year-old man who presented with diplopia on lateral gaze to both sides, facial diplegia, nasal dysarthria and dysphagia. Repetitive nerve stimulation of the trapezius and orbicularis oculi muscles showed amplitude decrements of 19% and 41% respectively supporting the diagnosis of myasthenia gravis. MUsK antibodies were positive. Corticosteroids were introduced and then tapered and discontinued at 6 months after initiation. The patient remained in remission and asymptomatic for 4 years without ongoing treatment or prior treatment with rituximab after this first relapse of MuSK-MG. MuSK- MG is considered a hard-to-treat condition and patients generally remain dependent on immunosuppression or prior treatment with rituximab. Our observation highlights that patients with MuSK-MG can have a benign course and that continued immunosuppressive or immunomodulatory therapy may not always be required. PMID:27161384

  12. 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.

  13. 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.

  14. Malignant thymona with symptoms of myasthenia gravis; Grasiczak zlosliwy z objawami nuzliwosci miesni

    Energy Technology Data Exchange (ETDEWEB)

    Miarzynska, M.; Szlezak, L.; Fibak, J.; Wolski, M.; Lis-Podrzycka, E.; Miarzynski, K. [Szpital im. F. Raszei, Poznan (Poland)

    1994-12-31

    The rare case of malignant tumor of thymus - Thymoma malignum was described. The initial diagnosis was difficult, because of the irregular symptoms of myasthenia gravis. The diagnostic difficulties, treatment and clinical features of this neoplasm were also discussed. (author)

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

    DEFF Research Database (Denmark)

    Vinge, Lotte; Andersen, Henning

    2016-01-01

    INTRODUCTION: Dynamometry is increasingly used as an objective measurement of muscle strength in neurological diseases. No study has applied dynamometry in untreated newly diagnosed patients with myasthenia gravis (MG). METHODS: Isometric muscle strength at the shoulder, knee and ankle was...

  16. 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

  17. 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...

  18. The diagnosis of thymoma and thymic atrophy in patients with myasthenia gravis; Dignostikk av tymom og thymusatrofi hos pasienter med myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Sund, K.K.; Skeie, G.O.; Gilhus, N.E.; Aarli, J.A.; Varhaug, J.E. [Haukeland Sykehus, Bergen (Norway)

    1997-11-01

    The authors have compared clinical, immunological and radiological data in 20 patients with myasthenia gravis and thymoma and in 21 patients with myasthenia gravis and thymic atrophy. The median age at onset was 54 years in the thymoma group and 63 years in the thymic atrophy group. The severity of the disease was similar in the two groups, and there was no significant difference in the concentration of acetylcholine receptor antibodies. CA antibodies were demonstrated in 17/20 thymoma patients and in 6/21 with thymic atrophy, while 19/20 thymoma patients had antibodies to titin, compared with 9/21 among those with thymic atrophy. The diagnosis and treatment of patients with myasthenia gravis is based upon an evaluation of clinical, immunological and radiological data. 28 refs., 2 tabs.

  19. 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.

  20. 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.

  1. 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

  2. Unusual clinical behaviour of thymoma with recurrent myasthenia gravis.

    Science.gov (United States)

    Keditsu, Keduovinuo K; Karimundackal, George; Jambhekar, Nirmala A; Pramesh, C S

    2012-06-01

    A 58-year old man with thymoma and myasthenia gravis (MG) had undergone thymectomy 8 years ago with histopathologically confirmed non-invasive WHO-type AB thymoma. After 5 years of complete remission, symptoms of MG resurfaced, and a recurrent anterior mediastinal mass was detected for which he received radiotherapy. He presented to us 3 years later with productive cough and exertional dyspnoea; the positron emission tomography-computed tomography scan revealed a metabolically active pulmonary nodule in the right lung as the only site of disease for which a right lower lobectomy was done. Microscopy established an intrapulmonary WHO-type B2 thymoma and the patient is currently asymptomatic on steroids, anticholinesterase and immunosuppressant therapy. We discuss the variable and unpredictable course of thymomas; the possibility of transformation into more aggressive types with each recurrence, association with recurrent MG post-thymectomy and presentation several years later with metastatic disease. PMID:22378319

  3. Elderly-onset familial myasthenia gravis in two siblings.

    Science.gov (United States)

    Hirunagi, Tomoki; Tsujikawa, Koyo; Hasegawa, Yasuhiro; Mano, Kazuo; Katsuno, Masahisa

    2016-06-01

    Myasthenia gravis (MG) occasionally occurs in a family, but elderly-onset (≥65 years) familial MG has been rarely reported. We here report the case of two siblings with elderly-onset MG (mean onset age: 72.5 years) and present the human leukocyte antigen (HLA) profiles (HLA-A, -B, -DR) of their family. Both patients developed generalized MG with elevated serum acetylcholine receptor antibody titers at their seventies. Of six siblings, the two patients and one unaffected sibling shared the same HLA haplotypes. Our study indicates that elderly-onset MG can occur in a family and that familial occurrence of MG may be related to certain HLA alleles. PMID:27132121

  4. Anaesthetic Management of a patient with Myasthenia Gravis and Small Bowel Intussusception for Jejuno-Ileal Anastomoses

    Directory of Open Access Journals (Sweden)

    Pawan Kumar Jain

    2016-01-01

    Full Text Available Myasthenia gravis is a chronic autoimmune disease affecting voluntary skeletal muscles. The altered sensitivity of acetylcholine receptors to muscle relaxants and concomitant treatment with anticholinesterase in these patients affect their anaesthetic management. Patients who have undergone bowel anastomosis and are on regular anticholinesterase treatment are susceptible to anastomotic leaks. We report successful anaesthetic management of class I myasthenic patient with coexisting small bowel intussusception operated for jejuno-ileal anastomoses using regional, inhalational and intravenous (i.v anaesthesia based on train of four responses, and avoiding the use of reversal (anticholinesterase.

  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. The diagnosis of thymoma and thymic atrophy in patients with myasthenia gravis

    International Nuclear Information System (INIS)

    The authors have compared clinical, immunological and radiological data in 20 patients with myasthenia gravis and thymoma and in 21 patients with myasthenia gravis and thymic atrophy. The median age at onset was 54 years in the thymoma group and 63 years in the thymic atrophy group. The severity of the disease was similar in the two groups, and there was no significant difference in the concentration of acetylcholine receptor antibodies. CA antibodies were demonstrated in 17/20 thymoma patients and in 6/21 with thymic atrophy, while 19/20 thymoma patients had antibodies to titin, compared with 9/21 among those with thymic atrophy. The diagnosis and treatment of patients with myasthenia gravis is based upon an evaluation of clinical, immunological and radiological data. 28 refs., 2 tabs

  7. 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.

  8. Computed tomography of the thymus in myasthenia gravis

    International Nuclear Information System (INIS)

    Comparison of preoperative CT diagnosis and histopathological diagnosis for the thymus were studied in 39 patients with myasthenia gravis. The patients consisted of 10 patients with thymoma and 29 without thymoma confirmed at the operation. CT diagnosis was 11 thymomas, 18 thymic hyperplasias and 10 normal thymuses. Eleven thymomas revealed histopathologically 9 thymomas, one follicular lymphoid hyperplasia (FLH) and one involved thymus. Out of 18 thymic hyperplasias 15 cases were FLH and 3 involved thymus. There were 5 involved thymuses, 4 FLHs and one thymoma in the 10 normal thymuses on CT. The finding of 'reticular pattern', many small nodules scattered reticularly in the thymus, in computed tomography could be regarded as a sign suggesting FLH of the thymus. The accuracy of this finding of CT was 83% for FLH. The finding of thymoma on CT revealed 82% of the accuracy. Therefore, CT was very useful in the diagnosis of the localization of the thymoma but not for the diagnosis of FLH of the thymus. Nevertheless the finding of 'reticular pattern' on CT was helpful in the diagnosis of FLH. (author)

  9. Radiographical diagnosis of the thymus in myasthenia gravis

    International Nuclear Information System (INIS)

    Comparison of radiographical findings of the thymus between pneumomediastinography and computed tomography were studied in 35 patients with myasthenia gravis. The patients consisted of 10 patients with thymoma and 25 without thymoma confirmed at the operations. Pneumomediastinography was very useful to discern whether the thymoma was invasive or noninvasive, but not contributory to know whether the thymus was composed of folicular lymphoid hyperplasia or normal thyimic tissues. Computed tomography was also useful to dertermine the localization and the invasiveness of the thymoma, but not helpful to know whether the thymus was of follicular lymphoid hyperplasia or normal tissues. However, the finding of ''reticular pattern''-many small nodules scattered resicularly in the thymus-in computed tomography could be regarded as a sign suggesting follicular lymphoid hyperplasia of the thymus. Therfore, both pneumomediastinography and computed tomography were very useful in the diagnosis of the localization and the invasiveness of the thymoma but not for the diagnosis of follicular lymphoid hyperplasia of the thymus. Neverethless the finding of ''reticular pattern'' computred tomography was helpful in the diagnosis of follicular lymphoid hyperplasia. (author)

  10. CT findings of lymphofollicular thymic hyperplasia in adult myasthenia gravis

    International Nuclear Information System (INIS)

    Objective: To evaluate the CT findings of lymphofollicular thymic hyperplasia in adult myasthenia gravis (MG). Methods: The CT findings of thymus area of 134 adult patients with lymphofollicular thymic hyperplasia in MG were reviewed, all of them with surgically and histologically proven diagnosis, and compared with the CT findings of 165 normal subjects. Results: In the group of patient, CT showed enlargement of thymus in 31 patients, 5 patients had nodule or mass (3 cm) and 9 patients (6.7%) had normal size thymus with soft-tissue density, it can considered with thymic hyperplasia. The spotty or streak shadow showed in other patients, though it could not be certain diagnosed as thymic hyperplasia, but could not be except it. The thymus area tissue complete replacement by fatty density were not found in patient group. The CT findings of patients had marked difference when compared with group of normal subjects (P<0.01), except the spotty or streak shadows. Conclusion: CT scan is an important method in diagnosing thymic lymphofollicular hyperplasia of MG in adult. (authors)

  11. Computed tomography of the thymus in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Tanimura, Shigeo; Sakaguchi, Kozo; Tomoyasu, Hiroshi; Banba, Jiro; Masaki, Mikio; Kurosaki, Atsuko; Matsushita, Hisashi [Toranomon Hospital, Tokyo (Japan)

    1995-01-01

    Comparison of preoperative CT diagnosis and histopathological diagnosis for the thymus were studied in 39 patients with myasthenia gravis. The patients consisted of 10 patients with thymoma and 29 without thymoma confirmed at the operation. CT diagnosis was 11 thymomas, 18 thymic hyperplasias and 10 normal thymuses. Eleven thymomas revealed histopathologically 9 thymomas, one follicular lymphoid hyperplasia (FLH) and one involved thymus. Out of 18 thymic hyperplasias 15 cases were FLH and 3 involved thymus. There were 5 involved thymuses, 4 FLHs and one thymoma in the 10 normal thymuses on CT. The finding of `reticular pattern`, many small nodules scattered reticularly in the thymus, in computed tomography could be regarded as a sign suggesting FLH of the thymus. The accuracy of this finding of CT was 83% for FLH. The finding of thymoma on CT revealed 82% of the accuracy. Therefore, CT was very useful in the diagnosis of the localization of the thymoma but not for the diagnosis of FLH of the thymus. Nevertheless the finding of `reticular pattern` on CT was helpful in the diagnosis of FLH. (author).

  12. 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 < 0.05). Among them, IL-20, IL-28A and 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

  13. Azathioprine therapy for acquired myasthenia gravis in five dogs.

    Science.gov (United States)

    Dewey, C W; Coates, J R; Ducoté, J M; Meeks, J C; Fradkin, J M

    1999-01-01

    Five dogs with acquired myasthenia gravis (MG), verified via positive serum acetylcholine (ACh) receptor antibody concentrations, were treated with a drug protocol including azathioprine (AZA). Four of the five dogs were concurrently treated with pyridostigmine. Azathioprine was used as the sole immunosuppressive agent in four dogs. One dog was temporarily treated with a combination of an immunosuppressive dose of prednisone and AZA, then maintained on AZA as the sole immunosuppressive drug. Three patients experienced complete remission of clinical signs within three months of therapy. In the four dogs for which follow-up serum ACh receptor antibody concentrations were available, initial versus final concentrations decreased substantially (81%), coincident with clinical improvement. One dog died suddenly due to a suspected myasthenic crisis before attaining the target dose of AZA. Two of the four surviving dogs were euthanized approximately one and seven years after diagnosis. One of these two dogs was euthanized because of a rib osteosarcoma, and the other dog was euthanized because of paraparesis of undetermined cause. The remaining two dogs were alive and doing well at the time of final follow-up evaluation, approximately six months and one year after diagnosis. The use of AZA as a therapeutic agent for acquired canine MG has not been investigated. The cases presented in this report suggest a potentially important role for AZA in the treatment of acquired MG in dogs. PMID:10493415

  14. 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.

  15. 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

  16. Value of radiologic imaging of the thymus gland in myasthenia gravis

    International Nuclear Information System (INIS)

    Radiologic imaging in myasthenia gravis is used for the evaluation of pathologic changes of the thymus gland. Computed tomography can demonstrate tumors of the anterior mediastinum in nearly 90% and is therefore superior to conventional radiography.Because of the variety of size and shape of the normal thymus gland, differentiation between normal thymus, follicular hyperplasia and thymoma is rarely possible especially in younger patients. In elderly patients with myasthenia gravis and involution of the thymus gland tumors of the thymus are reliably detected by computed tomography, whereas the ability of computed tomography to predict the histological diagnosis is poor even with intravenous administration of contrast media. (orig.)

  17. 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...

  18. Novel CXCL13 transgenic mouse: inflammation drives pathogenic effect of CXCL13 in experimental myasthenia gravis

    Science.gov (United States)

    Weiss, Julia Miriam; Robinet, Marieke; Aricha, Revital; Cufi, Perrine; Villeret, Bérengère; Lantner, Frida; Shachar, Idit; Fuchs, Sara; Souroujon, Miriam C.

    2016-01-01

    Abnormal overexpression of CXCL13 is observed in many inflamed tissues and in particular in autoimmune diseases. Myasthenia gravis (MG) is a neuromuscular disease mainly mediated by anti-acetylcholine receptor autoantibodies. Thymic hyperplasia characterized by ectopic germinal centers (GCs) is a common feature in MG and is correlated with high levels of anti-AChR antibodies. We previously showed that the B-cell chemoattractant, CXCL13 is overexpressed by thymic epithelial cells in MG patients. We hypothesized that abnormal CXCL13 expression by the thymic epithelium triggered B-cell recruitment in MG. We therefore created a novel transgenic (Tg) mouse with a keratin 5 driven CXCL13 expression. The thymus of Tg mice overexpressed CXCL13 but did not trigger B-cell recruitment. However, in inflammatory conditions, induced by Poly(I:C), B cells strongly migrated to the thymus. Tg mice were also more susceptible to experimental autoimmune MG (EAMG) with stronger clinical signs, higher titers of anti-AChR antibodies, increased thymic B cells, and the development of germinal center-like structures. Consequently, this mouse model finally mimics the thymic pathology observed in human MG. Our data also demonstrated that inflammation is mandatory to reveal CXCL13 ability to recruit B cells and to induce tertiary lymphoid organ development. PMID:26771137

  19. Diagnostic imaging and treatment of an invasive thymoma in myasthenia gravis. Bildgebende Diagnostik und Therapie eines invasiven Thymoms mit Myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Soetje, G.; Brinkmann, G. (Kiel Univ. (Germany, F.R.). Abt. Radiologie); Striepling, E.; Engemann, R. (Kiel Univ. (Germany, F.R.). Abt. Allgemeine Chirurgie)

    1991-05-01

    A 40-year old woman with an invasive thymoma and myasthenia gravis is described in this article. Chest-x-ray, CT and MRI of the mediastinum could not offer definite results on tumour malignancy. Radical surgical removal was the consequence. This revealed a tumour infiltration of the pleura and pericardium; hence an adjuvant irradiation must have been performed. Mestinon-treatment was afterwards gradually reduced. (orig.).

  20. 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

  1. Assessment of cognitive function in patients with myasthenia gravis

    Directory of Open Access Journals (Sweden)

    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.

  2. The clinical outcome of thymectomy in myasthenia gravis

    Directory of Open Access Journals (Sweden)

    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.

  3. 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.

  4. 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

  5. Disability and Functional Profiles of Patients with Myasthenia Gravis Measured with ICF Classification

    Science.gov (United States)

    Leonardi, Matilde; Raggi, Alberto; Antozzi, Carlo; Confalonieri, Paolo; Maggi, Lorenzo; Cornelio, Ferdinando; Mantegazza, Renato

    2009-01-01

    The objective of this study is to describe functional profiles of patients with myasthenia gravis (MG), and the relationships among symptoms, activities and environmental factors (EF), by using WHO's International Classification of Functioning Disability and Health (ICF). Patients were consecutively enrolled at the Besta Institute of Milan, Italy.…

  6. Diurnal and day-to-day variation of isometric muscle strength in myasthenia gravis

    DEFF Research Database (Denmark)

    Vinge, Lotte; Jakobsen, Johannes; Pedersen, Asger Roer; Andersen, Henning

    2016-01-01

    INTRODUCTION: In patients with myasthenia gravis (MG), muscle strength is expected to decrease gradually during the day due to physical activities. METHODS: Isometric muscle strength at the shoulder, knee, and ankle was determined in 10 MG patients (MGFA class II-IV) who were receiving usual...

  7. Experience of thymectomy by median sternotomy in patients with myasthenia gravis

    International Nuclear Information System (INIS)

    Objective: To determine the outcome of thymectomy in patients with myasthenia gravis and safety of median sternotomy approach. Methodology: An observational descriptive study was conducted in the department of thoracic surgery JPMC from February 2005 to January 2009. Twenty two patients having persistent generalized or ocular myasthenia gravis referred to our department by neurologists and general physicians, partially or not responding to medical treatment with or without thymoma, were included in the study. Those who were not fit for anaesthesia were excluded. Preoperatively 2 to 3 sessions of plasmaphaeresis were done and each patient was given anti myasthenia gravis treatment. Clinical staging was done by Modified Osserman classification. Median sternotomy approach was used. Outcome was assessed on the basis of remission of disease in different Osserman groups. All patients were followed for a minimum of 6 months. Results: Out of 22 patients, 16 (72.7%) were females and 6 (27.2%) males. Mean age at presentation was 35.2 +- 14.5 years. Mean duration of symptoms was 1.5 +- 1.2 years. A total of 4 (18.1%) patients with myasthenia gravis had thymoma and histopathology of 18 (81.9%) patients showed thymic hyperplasia. Remission was seen in most grades of Osserman. The best response was seen in Grade I where all patients achieved remission. Most patients in Grade II A and II B were benefited. The only patient in Grade III had no improvement of symptoms. No patient in Grade IV underwent thymectomy. Overall 86.3 % had a positive outcome on basis of remission and improvement. Conclusion: Thymectomy by median sternotomy is safe and effective with more favourable outcomes for patients of myasthenia gravis not responding to medical treatment. (author)

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

    Directory of Open Access Journals (Sweden)

    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.

  9. 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

  10. [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

  11. T-cell receptor Vα and Cα alleles associated with multiple sclerosis and myasthenia gravis

    International Nuclear Information System (INIS)

    Polymorphic markers in genes encoding the α chain of the human T-cell receptor (TcR) have been detected by Southern blot analysis in Pss I digests. Polymorphic bands were observed at 6.3 and 2.0 kilobases (kb) with frequencies of 0.30 and 0.44, respectively, in the general population. Using the polymerase chain reaction (PCR) method, the authors amplified selected sequences derived from the full-length TcR α cDNA probe. These PcR products were used as specific probes to demonstrate that the 6.3-kb polymorphic fragment hybridizes to the variable (V)-region probe and the 2.0-kb fragment hybridizes to the constant (C)-region probe. Segregation of the polymorphic bands was analyzed in family studies. To look for associations between these markers and autoimmune diseases, the authors have studied the restriction fragment length polymorphism distribution of the Pss I markers in patients with multiple sclerosis, myasthenia gravis, and Graves disease. Significant differences in the frequency of the polymorphic Vα and Cα markers were identified between patients and healthy individuals

  12. Binding affinities of anti-acetylcholine receptor autoantibodies in myasthenia gravis

    International Nuclear Information System (INIS)

    Antibodies directed against acetylcholine (ACh) receptors are present in the sera of nearly 90% of patients with myasthenia gravis (MG), and are involved in the pathogenesis of this autoimmune disease. However, the antibody titers measured by the standard radioimmunoassay correspond poorly with the clinical severity of the disease. To determine whether this disparity could be accounted for by differences in the binding affinities of anti-ACh receptor antibodies in different patients, we have measured the binding affinities of these autoantibodies in 15 sera from MG patients. The affinity constants (K/sub o/), as determined by Scatchard analysis, were all in the range of 1010 M-1, comparable to the highest values reported in immunized animals. The affinity constants were truly representative of the population of autoantibodies detected by the radioimmunoassay, as shown by the remarkable linearity of the Scatchard plots (r2>0.90) and the close correlation between the antibody titers determined by extrapolation of the Scatchard plots and by saturation analysis (r = 0.99; p < 0.001). There was only a 6-fold variation in affinity constants measured in this series of patients despite widely differing antibody titers and severity of the disease. Factors other than the titer and affinity of anti-ACh receptor antibodies may correlate better with the clinical manifestations of MG

  13. Binding affinities of anti-acetylcholine receptor autoantibodies in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Bray, J.J.; Drachman, D.B.

    1982-01-01

    Antibodies directed against acetylcholine (ACh) receptors are present in the sera of nearly 90% of patients with myasthenia gravis (MG), and are involved in the pathogenesis of this autoimmune disease. However, the antibody titers measured by the standard radioimmunoassay correspond poorly with the clinical severity of the disease. To determine whether this disparity could be accounted for by differences in the binding affinities of anti-ACh receptor antibodies in different patients, we have measured the binding affinities of these autoantibodies in 15 sera from MG patients. The affinity constants (K/sub o/), as determined by Scatchard analysis, were all in the range of 10/sup 10/ M/sup -1/, comparable to the highest values reported in immunized animals. The affinity constants were truly representative of the population of autoantibodies detected by the radioimmunoassay, as shown by the remarkable linearity of the Scatchard plots (r/sup 2/>0.90) and the close correlation between the antibody titers determined by extrapolation of the Scatchard plots and by saturation analysis (r = 0.99; p < 0.001). There was only a 6-fold variation in affinity constants measured in this series of patients despite widely differing antibody titers and severity of the disease. Factors other than the titer and affinity of anti-ACh receptor antibodies may correlate better with the clinical manifestations of MG.

  14. Imaging of thymus in myasthenia gravis: From thymic hyperplasia to thymic tumor

    International Nuclear Information System (INIS)

    Myasthenia gravis (MG) is an autoimmune disorder often associated with thymic abnormalities. At onset, thymic lymphoid hyperplasia (TLH) and thymoma can be found in up to 65% and 15% of patients, respectively. Diagnostic imaging is crucial in this setting in order to detect the presence and type of the thymic abnormality and in the preoperative planning, when indicated. Chest radiography has a minor role due to its low accuracy. Computed tomography is the imaging modality of choice, although the differentiation between a small thymoma and TLH that appears as a focal soft-tissue mass may be not possible. Magnetic resonance imaging (MRI) is not usually employed, but it is useful in equivocal cases, especially in differentiating focal TLH from thymoma by using chemical-shift sequences for defining the proper management. In addition, diffusion-weighted (DW)-MRI can differentiate lipid-poor normal/hyperplastic thymus from thymoma and could be useful in differentiating non-advanced from advanced thymomas. Positron emission tomography (PET)-CT is not helpful in distinguishing early from advanced thymoma but can be used to differentiate thymic carcinoma from thymoma. Hereby, we discuss the imaging features of thymic abnormalities in MG, even focusing on novel aspects of chemical-shift and DW-MRI

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

    Directory of Open Access Journals (Sweden)

    AlanR.Moore

    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.

  16. Azathioprine as a single immunosuppressive drug in the treatment of myasthenia gravis.

    Science.gov (United States)

    Cosi, V; Lombardi, M; Erbetta, A; Piccolo, G

    1993-04-01

    We retrospectively evaluated results obtained from azathioprine (AZA) treatment on a selected sample of 40 patients affected by autoimmune myasthenia gravis (MG). Patients received AZA as a single immunosuppressive drug for at least 2 years. Twenty out of 40 patients received also a one-month course of cyclophosphamide (CP) before starting AZA. All patients started immunosuppressive treatment out of myasthenic crisis. After 3, 12 and 24 months of AZA treatment, 82.5%, 92.5% and 97.5% of the patients respectively showed improvement in functional state, disappearance of bulbar involvement, or both. The impressive percentage of short-term positive results did not seem influenced by pre-treatment by CP. Side effects included only minor and transitory gastrointestinal symptoms and reversible cytopenia. Although the patient population was either particularly suitable for AZA treatment or candidate to a better response, our data suggest that AZA might also have good short term effects in a subgroup of MG patients. PMID:8328322

  17. 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

  18. 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

  19. Memory in myasthenia gravis: neuropsychological tests of central cholinergic function before and after effective immunologic treatment.

    Science.gov (United States)

    Glennerster, A; Palace, J; Warburton, D; Oxbury, S; Newsom-Davis, J

    1996-04-01

    There are reports of central cholinergic deficits in myasthenia gravis (MG) describing impaired performance on a variety of tests of memory with varying benefits from plasmapheresis. We tested 11 patients with symptomatic MG at the start of a trial of immunosuppressive treatment (prednisolone plus azathioprine or placebo) and again when in remission. The tests included the Logical Memory and Design Reproduction parts of the Wechsler Memory Scale, the Rey Auditory Verbal Learning Test, Peterson-Peterson task, and an auditory vigilance task. Muscle strength improved significantly over the period of treatment, but overall performance on tests of memory or attention did not. These results fail to substantiate reports of functionally significant and reversible central deficits in myasthenia gravis. PMID:8780106

  20. 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...

  1. 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...

  2. 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...

  3. 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...

  4. Diagnostic imaging and treatment of an invasive thymoma in myasthenia gravis

    International Nuclear Information System (INIS)

    A 40-year old woman with an invasive thymoma and myasthenia gravis is described in this article. Chest-x-ray, CT and MRI of the mediastinum could not offer definite results on tumour malignancy. Radical surgical removal was the consequence. This revealed a tumour infiltration of the pleura and pericardium; hence an adjuvant irradiation must have been performed. Mestinon-treatment was afterwards gradually reduced. (orig.)

  5. Nonmelanoma skin cancer risk awareness in azathioprine‐treated myasthenia gravis patients

    OpenAIRE

    McGurgan, Iain J.; McGuigan, Christopher

    2015-01-01

    Abstract Objectives 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. Methods Clinical records of patients with MG attending a university hospital neurology ...

  6. 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...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    OpenAIRE

    2015-01-01

    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...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. 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...

  13. Thymus cells in myasthenia gravis selectively enhance production of anti-acetylcholine-receptor antibody by autologous blood lymphocytes

    International Nuclear Information System (INIS)

    We investigated the role of the thymus in 16 patients with myasthenia gravis without thymoma by studying the production of anti-acetylcholine-receptor antibody by thymic and blood lymphocytes cultured alone or together. In 10 responders (with the highest receptor-antibody titers in their plasma), cultured thymic cells spontaneously produced measurable receptor antibody. Receptor-antibody production by autologous blood lymphocytes was enhanced by the addition of responder's thymic cells, irradiated to abrogate antibody production and suppression (P<0.01). This enhancement was greater and more consistent than that by pokeweed mitogen; it depended on viable thymic cells, appeared to be selective for receptor antibody, and correlated with the ratio of thymic helper (OKT4-positive or OKT4+) to suppressor (OKT8+) T cells (P<0.01). These results suggest that myasthenic thymus contains cell-bound acetylcholine-receptor-like material or specific T cells (or both) that can aid receptor-antibody production. This may be relevant to the benefits of thymectomy in myasthenia and to the breakdown in self-tolerance in this and other autoimmune diseases

  14. Thymus cells in myasthenia gravis selectively enhance production of anti-acetylcholine-receptor antibody by autologous blood lymphocytes

    Energy Technology Data Exchange (ETDEWEB)

    Newsom-Davis, J.; Willcox, N.; Calder, L.

    1981-11-26

    We investigated the role of the thymus in 16 patients with myasthenia gravis without thymoma by studying the production of anti-acetylcholine-receptor antibody by thymic and blood lymphocytes cultured alone or together. In 10 responders (with the highest receptor-antibody titers in their plasma), cultured thymic cells spontaneously produced measurable receptor antibody. Receptor-antibody production by autologous blood lymphocytes was enhanced by the addition of responder's thymic cells, irradiated to abrogate antibody production and suppression (P<0.01). This enhancement was greater and more consistent than that by pokeweed mitogen; it depended on viable thymic cells, appeared to be selective for receptor antibody, and correlated with the ratio of thymic helper (OKT4-positive or OKT4+) to suppressor (OKT8+) T cells (P<0.01). These results suggest that myasthenic thymus contains cell-bound acetylcholine-receptor-like material or specific T cells (or both) that can aid receptor-antibody production. This may be relevant to the benefits of thymectomy in myasthenia and to the breakdown in self-tolerance in this and other autoimmune diseases.

  15. Thoracic computer tomography for the evaluation of the thymus gland in cases of myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Druschky, K.F.; Stadler, H.W.; Daun, H.

    1981-01-01

    Hyperplasia of the thymus gland is observed in 65% of all patients with myasthenia gravis, while the incidence of thymus tumor is reported to be 8.5-28%. Conventional radiological techniques provide little information in the diagnosis of mediastinal lesions. Even a clearly developed thymus tumor can escape clinical detection. Since March 1978 thoracic computer tomography has been performed in addition to X-rays of the chest in a series of 19 patients with myasthenia ravis, 10 women and 9 men ranging in age from 15-71 years and in 3 patients with suspected thymomas but without myasthenia gravis. These examinations were carried out with a Somatom II (Siemens) since September 1979. On the average 15-20 scans were made at the level of the upper two-third of the sternum. The chest X-rays in 2 planes revealed signs of a thymus tumor in 3 female patients. Thoracic computer tomography showed definite signs of a space-occupying lesion in the anterior mediastinum in 11 cases. At thymectomy 6 patients were found to have hyperplasia of the thymus, 2 patients had a benign thymoma and 3 patients a malignant thymoma. In 6 cases computer tomography showed only slight changes and in 5 patients no pathological findings could be demonstrated in the thymus gland. Thoracic computer tomography is a relatively harmless diagnostic measure without any risk for the patient. It has a high resolution and great accuracy in the evaluation of the thymus gland and is therefore the method of choice for the diagnosis of patients with myasthenia gravis.

  16. Thoracic computer tomography for the evaluation of the thymus gland in cases of myasthenia gravis

    International Nuclear Information System (INIS)

    Hyperplasia of the thymus gland is observed in 65% of all patients with myasthenia gravis, while the incidence of thymus tumor is reported to be 8.5-28%. Conventional radiological techniques provide little information in the diagnosis of mediastinal lesions. Even a clearly developed thymus tumor can escape clinical detection. Since March 1978 thoracic computer tomography has been performed in addition to X-rays of the chest in a series of 19 patients with myasthenia ravis, 10 women and 9 men ranging in age from 15-71 years and in 3 patients with suspected thymomas but without myasthenia gravis. These examinations were carried out with a Somatom II (Siemens) since September 1979. On the average 15-20 scans were made at the level of the upper two-third of the sternum. The chest X-rays in 2 planes revealed signs of a thymus tumor in 3 female patients. Thoracic computer tomography showed definite signs of a space-occupying lesion in the anterior mediastinum in 11 cases. At thymectomy 6 patients were found to have hyperplasia of the thymus, 2 patients had a benign thymoma and 3 patients a malignant thymoma. In 6 cases computer tomography showed only slight changes and in 5 patients no pathological findings could be demonstrated in the thymus gland. Thoracic computer tomography is a relatively harmless diagnostic measure without any risk for the patient. It has a high resolution and great accuracy in the evaluation of the thymus gland and is therefore the method of choice for the diagnosis of patients with myasthenia gravis. (orig.)

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

    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.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.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. 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...

  20. 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 ...

  1. Myasthenia Gravis, Schizophrenia, and Colorectal Cancer in A Patient: Long-Term Follow-Up with Medication Complexity

    OpenAIRE

    Kim, Haebin; Hong, Minha; Bahn, Geon Ho

    2013-01-01

    In a case of 46-year-old woman suffering from schizophrenia for over 20 years, she experienced frequent episodes of dyspnea and confirmed as superimposed with myasthenia gravis (MG). Throughout the seven-year follow-up period, after diagnosed as MG, she has been hospitalized 6 times and also diagnosed as colorectal cancer. Authors experienced various conditions associated with untoward effects of medication for myasthenia, schizophrenia, and colorectal cancer. Therefore, authors reported cons...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Myasthenia gravis: 75Se-seleno-methionine scanning of thymus gland

    International Nuclear Information System (INIS)

    The 75Se-seleno-methionine isotope thymus scanning was examined in a series of patients with myasthenia gravis. The patients were given 4 μC/kg hence a total of 250-300 μC 75Se-seleno-methionine, intravenously. The method proved useful and informative in the diagnostics of myasthenia. Prior to thymectomy, the thymic tumour or a large gland could be observed and some hints could be gained for the biological activity of the gland. After the operation, the success of thymectomy could be checked and later a possible recidive could be shown or excluded. In non-operative cases the change in thymic activity could be followed which was an important sign of a malignant or tumorous growth of the thymus. (author)

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

    Science.gov (United States)

    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

  6. Positive experience of the usage of Rituximab in management of refractory myasthenia gravis in Russia

    OpenAIRE

    N. I. Shcherbakova; N. A. Suponeva; V. V. Shvedkov; A. A. Shabalina; M. V. Kostyreva; V. A. Rudnichenko; O. I. Galkina

    2015-01-01

    A subset of patients (15 to 20%) with myasthenia gravis (MG) remains refractory to standard types of treatment. Analysis of efficiency of rituximab, a chimeric monoclonal antibody to surface antigen of B lymphocytes (CD20), in 16 patients suffering from refractory MG was performed. In all cases, the drug was injected weekly and intravenously in the dosage of 375 mg/m2, for 4 weeks. All patients were dependent on intake of corticosteroids and cyclosporin. During rituximab therapy, the gradatio...

  7. Perception of Dreams and Subjective Sleep Quality in Patients with Myasthenia gravis

    OpenAIRE

    Happe, Svenja; Zeitlhofer, Josef; Klösch, Gerhard

    2004-01-01

    Objectives: Recent reports have led to the hypothesis of a central nervous system involvement in myasthenia gravis (MG). As the central cholinergic system also plays an important role in sleep/wake rhythms and in the regulation of REM sleep, sleep perception and dreaming may be altered in MG patients. Patients and Methods: Seventeen consecutive patients with MG (mean age 49.5 ± 13.6 years) and 14 healthy controls (mean age 50.5 ± 16.0 years) were investigated by means of the Self-Rating Depre...

  8. Acquired myasthenia gravis associated with a non-invasive thymic carcinoma in a dog.

    Science.gov (United States)

    Stenner, V J; Parry, B W; Holloway, S A

    2003-09-01

    An 8 1/2-year-old neutered male Beagle was diagnosed with acquired myasthenia gravis associated with a non-invasive thymic carcinoma. The thymic mass was surgically excised and the dog was treated with pyridostigmine, prednisolone and azathioprine. Serial acetylcholine receptor antibody titres were increased initially but slowly declined to normal values over a period of 24 weeks. Improved exercise tolerance was seen following therapy, however, oesophageal dysfunction persisted. The dog was euthanased 26 weeks after initial presentation due to a complicating illness. A necropsy showed no regrowth or metastasis of the thymic carcinoma. PMID:15086092

  9. Major motor-functional determinants associated with poor self-reported health-related quality of life in myasthenia gravis patients.

    Science.gov (United States)

    Cioncoloni, David; Casali, Stefania; Ginanneschi, Federica; Carone, Marisa; Veronica, Boni; Rossi, Alessandro; Giannini, Fabio

    2016-05-01

    Myasthenia gravis (MG) is an autoimmune neuromuscular disorder in which disabling muscle weakness may affect health-related quality of life (HRQoL). The aim of this study was to investigate which common motor-functional deficits and corresponding severity are most determinant of poor HRQoL in these patients. In 41 patients, the dichotomized first item of the Italian Myasthenia Gravis Questionnaire (IMGQ), categorizing patients who report "good" and "poor" HRQoL, was chosen as dependent-outcome variable. All items composing the myasthenia gravis-specific scale (MG-ADL), i.e. talking, chewing, swallowing, breathing, impairment of ability to brush teeth or comb hair, impairment of ability to rise from chair, double vision, and eyelid droop were acquired as independent variables and dichotomized. Stepwise backward LR multivariable logistic regression analysis was performed. In addition, the main characteristics of patients were compared. MG-ADL items "chewing" ≥1, i.e. "fatigue chewing solid food", and "breathing" ≥2, i.e. "shortness of breath at rest" proved to be significant determinants. Higher dose of corticosteroid therapy was significantly (p = 0.027; r s  = -0.35), correlated with poor HRQoL. At diagnosis, a decremental response to repetitive nerve stimulation (RNS) from the abductor pollicis brevis was significantly more frequent in patients with poor HRQoL. In conclusion, impaired "chewing" and "breathing" functions indicate the need for careful planning of rehabilitation, re-education and patient management. Moreover, decremental response to RNS at diagnosis may identify patients at risk for poor HRQoL. PMID:27038315

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

    OpenAIRE

    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...

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Endotracheal intubation without the use of muscle relaxants in patients with myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Vlajković Gordana

    2009-01-01

    Full Text Available Introduction. Although muscle relaxants have been widely used to facilitate endotracheal intubation, the administration of these drugs in myasthenic patients may be associated with adverse events. Material and methods. After obtaining Institutional Reviewing Board approval and informed, patient consent, 30 patients with myasthenia gravis were enrolled in a prospective, double-blind, randomized clinical trial. We compared intubating conditions (ease of laryngoscopy, vocal cords, cough, jaw relaxation, limb movement following fentanyl 2 mg/kg and propofol 2 mg/kg (group PRO, n = 15 vs fentanyl 2 mg/kg and sevoflurane 5% in a 1:2 mixture of oxygen and nitrous oxide (group SEVO, n = 15. The statistical analysis was performed using Student's t test and Chi-quadrate test, p<0.05 being regarded as significant. Results. The overall intubating conditions were excellent in 67% of patients in the group PRO vs 80% of patients in the group SEVO (p>0.05. One patient in each group had clinically unacceptable conditions for intubation. The mean intubation score was 5.7±1.0 in the group PRO vs 5.9±0.9 in the group SEVO (p>0.05. Three patients receiving propofol and one patient receiving sevoflurane had mild hoarseness after the surgery (p>0.05. Conclusion. Both propofol and sevoflurane, supplemented with fentanyl, provide good intubating conditions without the use of muscle relaxants in patients with myasthenia gravis.

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

    Directory of Open Access Journals (Sweden)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  15. [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

  16. T-cell receptor V sub. alpha. and C sub. alpha. alleles associated with multiple sclerosis and myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Oksenberg, J.R.; Cavalli-Sforza, L.L.; Steinman, L. (Stanford Univ., CA (USA)); Sherritt, M.; Bernard, C.C. (LaTrobe Univ., Victoria (Australia)); Begovich, A.B.; Erlich, H.A. (Cetus Corporation, Emeryville, CA (USA))

    1989-02-01

    Polymorphic markers in genes encoding the {alpha} chain of the human T-cell receptor (TcR) have been detected by Southern blot analysis in Pss I digests. Polymorphic bands were observed at 6.3 and 2.0 kilobases (kb) with frequencies of 0.30 and 0.44, respectively, in the general population. Using the polymerase chain reaction (PCR) method, the authors amplified selected sequences derived from the full-length TcR {alpha} cDNA probe. These PcR products were used as specific probes to demonstrate that the 6.3-kb polymorphic fragment hybridizes to the variable (V)-region probe and the 2.0-kb fragment hybridizes to the constant (C)-region probe. Segregation of the polymorphic bands was analyzed in family studies. To look for associations between these markers and autoimmune diseases, the authors have studied the restriction fragment length polymorphism distribution of the Pss I markers in patients with multiple sclerosis, myasthenia gravis, and Graves disease. Significant differences in the frequency of the polymorphic V{sub {alpha}} and C{sub {alpha}} markers were identified between patients and healthy individuals.

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

    OpenAIRE

    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...

  18. 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

    Directory of Open Access Journals (Sweden)

    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

  19. 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 ...

  20. A case of myasthenia gravis with transient taste disorders followed by aplastic anemia after thymectomy.

    Science.gov (United States)

    Osada, Osamu; Iwasaki, Akira; Nakahashi, Hirotaka; Kim, Yoshitora; Kaneko, Kou

    2016-03-30

    A 45-year-old man was admitted to our hospital because of taste disorders in March 2014. He exhibited cervical muscle weakness and left eye ptosis, which responded to Tensilon test, and was diagnosed with myasthenia gravis (MG). He developed aspiration pneumonia and myasthenic crisis, which was treated with intravenous immunoglobulin and steroid pulse therapy. All symptoms disappeared. Oral administration of prednisolone and tacrolimus was started. Chest CT revealed thymoma and extended thymectomy was performed in May 2014. In December 2014, seven months after the thymectomy, hematological examination showed pancytopenia including severe neutropenia. We diagnosed his illness as aplastic anemia (AA). Cyclosporine therapy with transfusion was administerd and led to reticulocyte count recovery. Since May 2015, hemoglobin recovery reached a blood transfusion free period. To our knowledge, this is the first case report with the patient supposed of relationship among taste disorders, AA and thymoma-associated MG. PMID:26876109

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

    Science.gov (United States)

    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

  2. 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

    nine cohorts. Haplotype trend test supported the differences in allele frequencies between cases and controls. In addition, allele frequency difference in female versus male patients at HLA-DRA and TNF-α loci were observed. INTERPRETATION: The genetic associations to EOMG outside the HLA complex are......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...... by team members of groups involved in different research aspects of MG. In the exploration step, these candidate genes were genotyped in 384 EOMG and 384 matched controls and significant difference in allele frequency were found in eight genes. In the replication step, eight candidate genes and one...

  3. Computed tomography of the thymus after pneumomediastinography in patients with myasthenia gravis

    International Nuclear Information System (INIS)

    Nine patients with myasthenia gravis (MG) had plain chest X-ray, tomography, computed tomography (CT) of the thorax, pneumomediastinography (PMG) and post-PMG CT scans. Routine chest radiography detected mediastinal masses in two patients and conventional laminogram provided no additional informations. CT yielded anterior mediastinal increased densities in seven patients (78%), whereas post-PMG CT delineated masses (thymoma or thymic hyperplasia) or thymic gland in all cases (100%), but these procedures could not distinguish thymic tumor from nontumorous conditions. PMG and post-PMG CT scans are superior to other radiographic techniques in detecting mediastinal abnormalities with more clear delineation of thymoma or thymic gland. When an abnormal density is present in the mediastinum of a patient with MG, PMG and post-PMG CT scans should be done to outline the mediastinal anatomy, to determine the size, extent, invasiveness of thymoma or thymic gland prior to thymectomy. (author)

  4. Computed tomography of the thymus after pneumomediastinography in patients with myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Hirose, Genjiro; Yamamoto, Teiji; Kosoegawa, Hiroshi; Saeki, Mitsuo; Hayashi, Toshiharu (Kanazawa Medical Univ., Ishikawa (Japan))

    1982-09-01

    Nine patients with myasthenia gravis (MG) had plain chest X-ray, tomography, computed tomography (CT) of the thorax, pneumomediastinography (PMG) and post-PMG CT scans. Routine chest radiography detected mediastinal masses in two patients and conventional laminogram provided no additional information. CT yielded anterior mediastinal increased densities in seven patients (78%), whereas post-PMG CT delineated masses (thymoma or thymic hyperplasia) or thymic gland in all cases (100%), but these procedures could not distinguish thymic tumor from nontumorous conditions. PMG and post-PMG CT scans are superior to other radiographic techniques in detecting mediastinal abnormalities with more clear delineation of thymoma or thymic gland. When an abnormal density is present in the mediastinum of a patient with MG, PMG and post-PMG CT scans should be done to outline the mediastinal anatomy, to determine the size, extent, invasiveness of thymoma or thymic gland prior to thymectomy.

  5. The Clinical Outcome and Therapeutic Treatment of a Patient with Double Seronegative Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    Azanjac Ana

    2014-03-01

    Full Text Available Prikazali smo slučaj 22-godišnjeg muskarca sa kliničkom slikom otežanog gutanja i dvoslika. Bolest myasthenia gravis (MG je dijagnostikovana na osnovu pozitivnog faramakološkog testa, pozitivnog testa neuromišićne transmisije, kompjuterizovane tomografije medijastinuma. Antitela protiv acetilholinskog receptora (AChR i antitela protiv mišićno specifičnog receptora za tirozin kinazu (MuSK. bila su negativna. Zabeleženo je delimično poboljšanje u neurološkom nalazu na ordiniranu terapiju Piridostigminom, Ciklosporinom, kortikosteroidima. Bolesnik je imao povoljan odgovor na izmenu plazme sa povlačenjem svih kliničkih siimptoma što potvrdjuje hipotezu o učešću humoralnih faktora u patogenezi dvostruko negativne MG.

  6. Guidelines for pre-clinical assessment of the acetylcholine receptor--specific passive transfer myasthenia gravis model-Recommendations for methods and experimental designs.

    Science.gov (United States)

    Kusner, Linda L; Losen, Mario; Vincent, Angela; Lindstrom, Jon; Tzartos, Socrates; Lazaridis, Konstantinos; Martinez-Martinez, Pilar

    2015-08-01

    Antibodies against the muscle acetylcholine receptor (AChR) are the most common cause of myasthenia gravis (MG). Passive transfer of AChR antibodies from MG patients into animals reproduces key features of human disease, including antigenic modulation of the AChR, complement-mediated damage of the neuromuscular junction, and muscle weakness. Similarly, AChR antibodies generated by active immunization in experimental autoimmune MG models can subsequently be passively transferred to other animals and induce weakness. The passive transfer model is useful to test therapeutic strategies aimed at the effector mechanism of the autoantibodies. Here we summarize published and unpublished experience using the AChR passive transfer MG model in mice, rats and rhesus monkeys, and give recommendations for the design of preclinical studies in order to facilitate translation of positive and negative results to improve MG therapies. PMID:25743217

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  9. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Impact of radiotherapy on myasthenia gravis in patients with malignant thymomas

    International Nuclear Information System (INIS)

    Objective: To evaluate the change of myasthenia gravis(MG) during radiotherapy for patients with malignant thymomas. Methods: Forty-five with malignant thymomas patients with were analyzed. The median total dose was DT54.2 Gy in 1.8-2.0 Gy/fraction, 5 clays a week. Anti-cholinesterase, such as pyridostigmine was used to control the MG symptoms. Results: Forty-five patients completed radiotherapy on schedule except one from whom the treatment was was with drawn because of respiratory muscle involvement. Among these 44 patients, myasthenic symptom was relieved in 4 to various degrees, 4 progressed, 34 no change and 2 developed cholinergic crisis. Myasthenic symptom was not changed in one patient for whom radiotherapy had been standed before operation nor during the course of postoperative radiotherapy. Conclusions: A course of radiotherapy of DT54.2 Gy, on fractionation of DT1.8-2.0 Gy modal would not aggravate myasthenia. However, proper use of anti-cholinesterase, careful observation and timely drug-adjustment are necessary. (authors)

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

    OpenAIRE

    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...

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

    OpenAIRE

    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...

  14. 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...

  15. PTPN22 R620W Polymorphism is Associated with Myasthenia Gravis Risk: A Systematic Review and Meta-Analysis

    OpenAIRE

    Xiong, Xunbo; Xiang, Mingqing; Cheng, Xianglin; Huang, Yi

    2015-01-01

    Backround The association between PTPN22 R620W polymorphism and risk of myasthenia gravis (MG) remains controversial. Therefore, we did this meta-analysis to investigate this association. Material/Methods We did a comprehensive search in PubMed, Medline, Embase, CNKI (China National Knowledge Infrastructure), and Wanfang electronic databases to retrieve relevant articles. The overall effect was measured by odds ratios (ORs) with its 95% confidence intervals (CIs). Statistical analyses were co...

  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

    Directory of Open Access Journals (Sweden)

    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. [A case of myasthenia gravis with invasive thymoma associated with diffuse panbronchiolitis, alopecia, dysgeusia, cholangitis and myositis].

    Science.gov (United States)

    Maekawa, Risa; Shibuya, Hideki; Hideyama, Takuto; Shiio, Yasushi

    2014-01-01

    A 43-year-old man was admitted to our hospital because of diplopia, ptosis, and dysphagia that had begun three years previously. He was diagnosed with myasthenia gravis (MG) and invasive thymoma and treated with corticosteroid, thymectomy, and radiation therapy. Ten years after the thymectomy, computed tomography (CT) showed metastasis of the thymoma in the left lower lobe of the lung. Two years after this recurrence, when the patient was 55, respiratory symptoms such as wheezing, persistent cough, and dyspnea appeared. Chronic sinusitis, diffuse centrilobular opacities on CT, and positivity for HLA-B54 led to a diagnosis of diffuse panbronchiolitis (DPB). Despite treatment with clarithromycin, the respiratory symptoms worsened. The patient developed alopecia and body hair loss at the age of 56 followed by dysgeusia, cholangitis, and myositis with positivity for anti-Kv1.4 antibodies. Although treatment with an increased dose of corticosteroid improved hair loss, dysgeusia, cholangitis, and myositis, he died of progression of DPB and serious respiratory infection at the age of 58. In this case, various autoimmune disorders occurred together with MG as complications of thymoma. Although alopecia, dysgeusia, and myositis are already known as complications of MG associated with thymoma, cholangitis is not well-recognized since there have been few reports suggesting a causal relationship between cholangitis and thymoma. Furthermore, DPB caused by immunodeficiency and respiratory tract hypersensitivity associated with thymoma and HLA-B54, respectively, is the distinctive feature of our case. Neurologists should be aware that various organs can be damaged directly and indirectly by abnormal T cells from thymoma in patients with MG. PMID:25283823

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

    Science.gov (United States)

    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

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

    Institute of Scientific and Technical Information of China (English)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Preoperative High-Dose Steroid Has Long-Term Beneficial Effects for Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    Syuichi Tetsuka

    2013-01-01

    Full Text Available Previous studies addressing preoperative steroid treatment have revealed that control of myasthenia gravis (MG with steroids prior to surgery appeared to stabilize postoperative status. The purpose of our study was to clarify the clinical benefits of the preoperative programmed high-dose steroid treatment on the long-term outcomes of MG patients. We retrospectively reviewed the records of 171 MG patients who were followed up after undergoing thymectomy in our hospital between 1988 and 2006. One hundred and thirteen patients in the programmed treatment group had received preoperative steroid treatment, while 58 patients received no steroid treatment during the preoperative period. Clinical remission, which was defined as the achievement of the modified pharmacologic remission (PR for at least 1 year, and clinical benefits were compared between the two groups. With regard to the remission after thymectomy, Kaplan-Meier life-table curves for patients in the preoperative steroid treatment group versus those for patients in the no steroid preoperative treatment group revealed a significantly higher probability of the PR in the preoperative steroid treatment group (log-rank test, P<0.01. This study might be the first, as per our knowledge, to indicate that preoperative programmed high-dose steroid treatment has long-term beneficial effects for MG patients.

  7. The usefulness of MRI for detection of the thymus gland in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Hokezu, Youichi; Kaseda, Syun; Arimura, Kimiyoshi; Osame, Mitsuhiro; Baba, Kuniaki (Kagoshima Univ. (Japan). Faculty of Medicine); Ohkubo, Koichi; Hagiwara, Hiroshi

    1989-08-01

    Seven patients with myasthenia gravis (MG) were examined to find thymus or thymoma employing chest radiographs, computed tomography (CT), pneumomediastinography (PMG), computed tomography after pneumomediastinography (PMG-CT) and magnetic resonance imaging (MRI). X-ray CT examination could reveal thymus only in half out of 6 cases scanned. On the other hand, MRI confirmed thymus or thymoma in 6 out of 7 patients. PMG and PMG-CT confirmed thymus or thymoma clearly in all of the 4 cases studied. PMG and PMG-CT examinations revealed thymus or thymoma more clearly than MRI. MRI is, however, an examination causing no pain to the patients and also more superior to X-ray CT in distinguishing between a thymus and mediastinal fat or vascular structure. In addition, MRI could reveal even capsules in thymoma which were never revealed by X-ray CT. We concluded that MRI could be an alternative method to CT and PMG in detection of thymus or thymoma in MG. (author).

  8. Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis.

    Science.gov (United States)

    Saruhan-Direskeneli, Güher; Hughes, Travis; Yilmaz, Vuslat; Durmus, Hacer; Adler, Adam; Alahgholi-Hajibehzad, Mahdi; Aysal, Fikret; Yentür, Sibel P; Akalin, Mehmet Ali; Dogan, Oner; Marx, Alexander; Gülsen-Parman, Yesim; Oflazer, Piraye; Deymeer, Feza; Sawalha, Amr H

    2016-05-01

    This study aims to investigate genetic susceptibility to early-onset and late-onset anti-acetylcholine receptor antibody positive myasthenia gravis (EOMG and LOMG) and anti-muscle specific kinase antibody positive MG (MuSK-MG) at genome-wide level in a single population. Using a custom-designed array and imputing additional variants and the classical HLA alleles in 398 patients, we detected distinct associations. In EOMG, rs113519545 in the HLA class I region (OR=5.71 [3.77-8.66], P=2.24×10(-16)), HLA-B*08:01 (OR=7.04 [3.95-12.52], P=3.34×10(-11)) and HLA-C*07:01 (OR=2.74 [1.97-3.81], P=2.07(-9)), in LOMG, rs111256513 in the HLA class II region (OR=2.22 [1.59-3.09], P=2.48×10(-6)) and in MuSK-MG, an intronic variant within HLA-DQB1 (rs68081734, OR=5.86, P=2.25×10(-14)) and HLA-DQB1*05:02 (OR=8.56, P=6.88×10(-13)) revealed the most significant associations for genome-wide significance. Differential genetic susceptibility within the HLA to EOMG, LOMG and MuSK-MG has been established in a population from Turkey. PMID:27181991

  9. Visualization of the thymus in myasthenia gravis. Comparison between pneumomediastinography and CT of the anterior mediastinum

    Energy Technology Data Exchange (ETDEWEB)

    Komatsu, Midori; Tanaka, Makoto; Morimatsu, Mitsunori; Hirai, Shunsaku; Heshiki, Atsuko (Gunma Univ., Maebashi (Japan). School of Medicine)

    1982-12-01

    We investigated whether CT had any advantage over pneumomediastinography (PMG) for the visualization of thymus in twenty-one patients with myasthenia gravis (MG). In two cases of thymoma which had been suspected with chest radiography, CT demonstrated an anterior mediastinal tumor distinguishable from other mediastinal organs, and for these cases PMG was not performed. Excluding three patients who were submitted to PMG only, CT of the anterior mediastinum was carried out in sixteen patients of MG, revealing thymic shadows in seven (44%). PMG followed by conventional tomography was done subsequently in three of these seven cases, for whom thymectomy was indicated because of uncontrollable myasthenic symptoms, and in all patients finger-like thymic shadows were disclosed. The vertical extension of thymus was more easily demonstrable by PMG than CT. PMG was carried out in six of nine patients in whom CT was negative, and in all cases thymic shadows were obvious with subsequent conventional tomography. Consequently, false negative rate of CT was at least 38% (6/16) with regard to the visualization of the nontumorous thymus. Although CT of the anterior mediastinum is useful as a screening method because of its non-invasiveness, its negative result does not rule out an absence of the pathologic thymus in view of its high false negative rate. In this regard, PMG is still necessary for the final determination of the thymic configuration in the MG patients.

  10. Skeletal-muscle CT, with special reference to polymyositis and myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Higashi, Yasuto; Ono, Shimato; Yasuda, Takeshi; Morimoto, Kenji; Terao, Akira; Shirabe, Teruo; Yokobayashi, Tsuneo (Kawasaki Medical School, Kurashiki, Okayama (Japan))

    1984-10-01

    We here report on skeletal-muscle CT at the thigh level as studied using a whole-body CT scanner, with special reference to polymyositis (PM) and myasthenia gravis (MG). Early diseased muscles appeared homogenous and were likely to be almost normal. The first sign of muscular atrophy was the appearance of small, patchy or linear, low-density tissues in several muscles. These low-density tissues gradually increased in number until finally the diseased muscles were totally replaced by low-density tissue. These pathological findings were more severe in PM than in MG. There was a maldistribution of low-density tissue in several cases of PM. According to these findings, skeletal-muscle CT was thought to be of great help for the recognition of the general condition of muscles and for the follow-up on the patients. We think skeletal-muscle CT has a very practical application for the better selection of suitable muscular biopsy and EMG sites and for the better clinical interpretation of these findings.

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

    International Nuclear Information System (INIS)

    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

  12. Skeletal-muscle CT, with special reference to polymyositis and myasthenia gravis

    International Nuclear Information System (INIS)

    We here report on skeletal-muscle CT at the thigh level as studied using a whole-body CT scanner, with special reference to polymyositis (PM) and myasthenia gravis (MG). Early diseased muscles appeared homogenous and were likely to be almost normal. The first sign of muscular atrophy was the apperance of small, patchy or linear, low-density tissues in several muscles. These low-density tissues gradually increased in number until finally the diseased muscles were totally replaced by low-density tissue. These pathological findings were more severe in PM than in MG. There was a maldistribution of low-density tissue in several cases of PM. According to these findings, skeletal-muscle CT was thought to be of great help for the recognition of the general condition of muscles and for the follow-up on the patients. We think skeletal-muscle CT has a very practical application for the better selection of suitable muscular biopsy and EMG sites and for the better clinical interpretation of these findings. (author)

  13. The usefulness of MRI for detection of the thymus gland in myasthenia gravis

    International Nuclear Information System (INIS)

    Seven patients with myasthenia gravis (MG) were examined to find thymus or thymoma employing chest radiographs, computed tomography (CT), pneumomediastinography (PMG), computed tomography after pneumomediastinography (PMG-CT) and magnetic resonance imaging (MRI). X-ray CT examination could reveal thymus only in half out of 6 cases scanned. On the other hand, MRI confirmed thymus or thymoma in 6 out of 7 patients. PMG and PMG-CT confirmed thymus or thymoma clearly in all of the 4 cases studied. PMG and PMG-CT examinations revealed thymus or thymoma more clearly than MRI. MRI is, however, an examination causing no pain to the patients and also more superior to X-ray CT in distinguishing between a thymus and mediastinal fat or vascular structure. In addition, MRI could reveal even capsules in thymoma which were never revealed by X-ray CT. We concluded that MRI could be an alternative method to CT and PMG in detection of thymus or thymoma in MG. (author)

  14. Electrocardiography as the First Step for the Further Examination of Cardiac Involvement in Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    Takao Kato

    2016-01-01

    Full Text Available Introduction. Cardiac involvement of myasthenia gravis (MG accompanies a poor prognosis. In the present study, we aimed to investigate the relationship between ECG abnormality and cardiac involvement. Methods. Of 178 patients diagnosed with MG between 2001 and 2013 at our hospital, we retrospectively analyzed consecutive 58 patients who underwent both ECG and echocardiography and without underlying cardiovascular disease. ECG abnormalities were defined by computer-assigned Minnesota-codes. Cardiac damage was defined as either (1 ejection fraction (EF 8 on echocardiography. Results. Thirty-three patients (56.8% had ECG abnormality. An elevated E/e′ was observed in patients with ECG abnormality compared to those without ECG abnormality (11.2±3.2, 8.7±2.2, resp., p=0.03. Among patients with ECG abnormality, 14 of 15 patients showed cardiac damage. Among patients without ECG abnormality, 6 of 33 patients showed cardiac damage (p=0.003. Reduced EF was observed in five patients (8.6% with ECG abnormality and none in patients without ECG abnormality. Conclusions. ECG may aid as the first step for the further examination of cardiac damage in patients with MG.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  16. Radiographical diagnosis of the thymus in myasthenia gravis. Comparison of pneumomediastinography and computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Tanimura, Shigeo; Banba, Jiro; Masaki, Mikio; Irimoto, Masahiro; Matsushita, Akira

    1987-11-01

    Comparison of radiographical findings of the thymus between pneumomediastinography and computed tomography were studied in 35 patients with myasthenia gravis. The patients consisted of 10 patients with thymoma and 25 without thymoma confirmed at the operations. Pneumomediastinography was very useful to discern whether the thymoma was invasive or noninvasive, but not contributory to know whether the thymus was composed of folicular lymphoid hyperplasia or normal thyimic tissues. Computed tomography was also useful to dertermine the localization and the invasiveness of the thymoma, but not helpful to know whether the thymus was of follicular lymphoid hyperplasia or normal tissues. However, the finding of ''reticular pattern''-many small nodules scattered resicularly in the thymus-in computed tomography could be regarded as a sign suggesting follicular lymphoid hyperplasia of the thymus. Therfore, both pneumomediastinography and computed tomography were very useful in the diagnosis of the localization and the invasiveness of the thymoma but not for the diagnosis of follicular lymphoid hyperplasia of the thymus. Neverethless the finding of ''reticular pattern'' computred tomography was helpful in the diagnosis of follicular lymphoid hyperplasia.

  17. Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis.

    Science.gov (United States)

    Huijbers, Maartje G; Niks, Erik H; Klooster, Rinse; de Visser, Marianne; Kuks, Jan B; Veldink, Jan H; Klarenbeek, Pim; Van Damme, Philip; de Baets, Marc H; van der Maarel, Silvère M; van den Berg, Leonard H; Verschuuren, Jan J

    2016-06-01

    Muscle-specific kinase (MuSK) myasthenia gravis (MG) is hallmarked by the predominant involvement of bulbar muscles and muscle atrophy. This might mimic amyotrophic lateral sclerosis (ALS) presenting with bulbar weakness. We encountered four cases of MuSK MG patients with an initial misdiagnosis of ALS. We analyzed the clinical data of the four misdiagnosed MuSK MG patients, and investigated the presence of MuSK autoantibodies in a group of 256 Dutch bulbar-onset ALS patients using a recombinant MuSK ELISA and a standard MuSK radioimmunorecipitation assay. Clues for changing the diagnosis were slow progression, clinical improvement, development of diplopia and absence of signs of upper motor neuron involvement. No cases of MuSK MG were identified among a group of 256 bulbar ALS patients diagnosed according to the revised El Escorial criteria. A misdiagnosis of ALS in patients with MuSK MG is rare. We recommend to carefully consider the diagnosis of MuSK MG in patients presenting with bulbar weakness without clear signs of upper motor neuron dysfunction. PMID:27133662

  18. 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

  19. [Concurrence of myasthenia gravis, polymyositis, thyroiditis and eosinophilia in a patient with type B1 thymoma].

    Science.gov (United States)

    Inoue, Manabu; Kojima, Yasuhiro; Shinde, Akiyo; Satoi, Hitoshi; Makino, Fumi; Kanda, Masutarou; Shibasaki, Hiroshi

    2007-07-01

    We presented a 43-year-old Japanese woman who acutely developed weakness of all extremities and difficulty in swallowing and drooping of eyelids, characterized by easy fatigability at the end of December, 2005. On general physical examination, she had moderate goiter. No cervical lymphadenopathy, cardiac murmur, or skin rash was noted. Neurologically, she had blepharoptosis, more on the right, only in the upright position with easy fatigability and marked weakness in the neck flexor, trunk, and all limb muscles much more proximally than distally. She had neither muscular atrophy nor upper motor neuron sign. Laboratory data showed slight leukocytosis with eosinophilia (up to 31%), and serum creatine kinase was markedly increased to over 2,000 IU/l. TSH receptor antibody (11.9%) and anti-acetylcholine receptor antibody (46.6 nmol/L) were also increased. Edrophonium test was positive. Electrophysiologically, muscle evoked potentials by repetitive motor nerve stimulation showed 13% and 50% waning in abductor pollicis brevis and deltoid muscle, respectively, at low frequency and no waxing at high frequency. Needle EMG showed fibrillation potentials and positive sharp waves in proximal muscles. Polymyositis was diagnosed by muscle biopsy which showed infiltration of lymphocytes in the endomysium and around non-necrotic muscle fibers. Upper arm muscle MRI showed multifocal high signal intensity lesions on T2-weighted images which were likely related to myositis. This finding is atypical for polymyositis. X-ray and CT of chest showed a mass lesion in the left pulmonary hilum, which was histologically diagnosed as type B1 thymoma. Thus, the present case had myasthenia gravis, polymyositis, thyroidititis and eosinophilia associated with type B1 thymoma. After the thymectomy, corticosteroid administration and immunoadsorption therapy, clinical symptoms and all laboratory abnormalities markedly improved. PMID:17710886

  20. Validation of the MG-DIS: a disability assessment for myasthenia gravis.

    Science.gov (United States)

    Raggi, Alberto; Leonardi, Matilde; Schiavolin, Silvia; Antozzi, Carlo; Brenna, Greta; Maggi, Lorenzo; Mantegazza, Renato

    2016-05-01

    This paper is aimed to present the validation of the myasthenia gravis disability assessment (MG-DIS), a MG-specific patient-reported disability outcome measure. Consecutive MG patients were enrolled, followed-up for 12 months and administered the SF-36, the WHO disability assessment schedule (WHODAS 2.0) and the preliminary 31-item MG-DIS addressing impairments and activity limitations. Factor structure and metric properties were assessed. In total, 109 patients were enrolled: 76 were females, mean age 50, mean MG duration 10.4 years, 86 were AChR-positive. The MG-DIS was reduced to 20 items, explaining 70.6 % of the original questionnaire variance, four subscales (generalized impairment-related problems; bulbar function-related problems; mental health and fatigue-related problems; vision-related problems) and an overall disability index. The MG-DIS has good metric properties (Cronbach's alpha ranging between .808 and .930), is stable, showed to be more sensitive than the WHODAS 2.0 and SF-36 to detect group differences and longitudinal changes and was well correlated with the MG-composite (.642). The MG-DIS includes items representing ocular, generalized, bulbar and respiratory symptoms, and is therefore well-built around MG-specific features. MG-DIS can be used in clinical trials as well as in observational or epidemiological studies to characterize patients' disability level and address the amount of improvement in disability. Further studies are needed to explore the possibility of a shorter disability scale. PMID:26931109

  1. Evaluation of the quality of guidelines for myasthenia gravis with the AGREE II instrument.

    Directory of Open Access Journals (Sweden)

    Zhenchang Zhang

    Full Text Available BACKGROUND: Clinical practice guidelines (CPGs are systematically developed statements to assist practitioners in making decisions about appropriate healthcare in specific clinical circumstances. The methodological quality of CPGs for myasthenia gravis (MG are unclear. OBJECTIVE: To critically evaluate the methodological quality of CPGs for MG using AGREE II instrument. METHOD: A systematical search strategy on PubMed, EMBASE, DynaMed, the National Guideline Clearinghouse (NGC and the Chinese Biomedical Literature database (CBM was performed on September 20th 2013. All guidelines related to MG were evaluated with AGREE II. The software used for analysis was SPSS 17.0. RESULTS: A total of 15 CPGs for MG met the inclusion criteria (12 CPGs in English, 3 CPGs in Chinese. The overall agreement among reviews was moderate or high (ICC >0.70. The mean scores (mean ± SD for al six domains were presented as follows: scope and purpose (60.93% ± 16.62%, stakeholder involvement (40.93% ± 20.04%, rigor of development (37.22% ± 30.46%, clarity of presentation (64.26% ± 16.36%, applicability (28.19% ± 20.56% and editorial independence (27.78% ± 28.28%. Compared with non-evidence-based CPGs, evidence-based CPGs had statistically significant higher quality scores for all AGREE II domains (P0.05. The quality scores of CPGs developed by NGC/AAN were higher than the quality scores of CPGs developed by other organizations for all domains. The difference was statistically significant for all domains with the exception of clarity of presentation (P = 0.07. CONCLUSIONS: The qualities of CPGs on MG were generally acceptable with several flaws. The AGREE II instrument should be adopted by guideline developers, particularly in China.

  2. 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.

  3. 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.

  4. 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

  5. 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

  6. 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.

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

    OpenAIRE

    MARCIO F. DE CARVALHO; TERESA C. M. ABRAHÃO; MOUNIR ASSAF

    1998-01-01

    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 ...

  8. 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...

  9. 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.

  10. 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

  11. 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

  12. Positive experience of the usage of Rituximab in management of refractory myasthenia gravis in Russia

    Directory of Open Access Journals (Sweden)

    N. I. Shcherbakova

    2015-09-01

    Full Text Available A subset of patients (15 to 20% with myasthenia gravis (MG remains refractory to standard types of treatment. Analysis of efficiency of rituximab, a chimeric monoclonal antibody to surface antigen of B lymphocytes (CD20, in 16 patients suffering from refractory MG was performed. In all cases, the drug was injected weekly and intravenously in the dosage of 375 mg/m2, for 4 weeks. All patients were dependent on intake of corticosteroids and cyclosporin. During rituximab therapy, the gradation of MG has significantly changed, being transformed from severe forms (IV and V MGFA class into moderate and mild forms (III, II, and I MGFA class. Improvement of the clinical state included cease of myasthenic exacerbation, increased respiratory muscle strength; significant reduction of dosages (and even canceling of basic pathogenetic and symptomatic treatment. Complete remission with cancellation of basic therapy was recorded in 4 (25 % of patients within 2-year period. However, 2 of them manifested with aggravation of MG after the first course of rituximab, in 9 and 24 months, correspondingly, which required resumption of corticosteroid therapy and repeating of courses of rituximab, with positive result. In 9 (56.25 % cases, pharmacological remission was recorded; in 3 (18.75 % cases, there was a significant improvement of initially severe forms. In all patients rituximab therapy lead to the clinical improvement: prior to completion of the course, after the 1st and the 2nd infusion - in 12 (75 % patients; 1 to 3 weeks after completion of the course – in 4 (25 % patients. Maximal improvement was registered in 1 to 12 month after completion of the course of rituximab intake (at the terms of 4. ± 2.0 months. There were the following stages of basic therapy cancellation: during first 1 to 3 months of rituximab treatment, pyridostigmine and cyclosporine were cancelled; corticosteroids were dropped off gradually, according to the clinical status of

  13. MRI manifestations of thymus in myasthenia gravis (MG) patients in various age groups

    International Nuclear Information System (INIS)

    Objective: To study MRI findings of the thymus in patients with myasthenia gravis (MG) in different age groups and to analyze the relationship between the morphological changes of thymus and the MG. Methods: In total 90 patients with MG (male: female=43:47) received MR scan and were divided into four groups (group A, B, C and D) by age. Fourteen patients out of 90 received additional enhanced scan. Group A included 33 patients aged under 10 years (m:f=18:15); 27 patients aged 11-25 years were in group B (m:f=12:15); group C had 17 patients aged 26-50 years (m:f=6:11); and in group D there were 13 patients whose ages were over 51 years (m:f=7:6). And 30 Non-MG patients aged 8-75 years were selected as control group, in which the thickness, the fat collection, and glandulous atrophy of thymus was studied on CT. Results: 1) The thymus was unremarkable in 44 cases out of 90 (48.88%). 2) Enlarged thymus was shown in 42 cases out of 90 (46.66%), in which non-nodular enlargement was revealed in 34 cases and nodular enlargement in 8 cases. There were 27 cases with abnormality of thymus out of 33 (81.81%) in group A, 12 cases out of 27 (44.44%) in group B and 3 cases in group C, but no abnormality was found in group D. 3) Only 4/90 patients (4.44%) had thymic mass that respectively seen in one case of group B, two of group C and one of group D. No evidence of the involvement of the adjacent structure was found on MRI in the cases of thymic mass. No thymus enlargement was revealed in control group. Fat collection in thymus was seen in both study groups and control group. Conclusion: Intimate relationship between the abnormality of the thymus gland and MG exists in children and teenagers. While in the middle-aged patients or the seniors, further studies should be made to find out whether there is a correlation

  14. 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

  15. Shenqi Fuzheng Injection Alleviates the Transient Worsening Caused by Steroids Pulse Therapy in Treating Myasthenia Gravis

    Directory of Open Access Journals (Sweden)

    Guo-Yan Qi

    2013-01-01

    Full Text Available Purpose. To evaluate the treatment effect and side effect of Shenqi Fuzheng Injection (SFI on alleviating transient worsening of myasthenia gravis (MG symptoms caused by high-dose steroids pulse therapy. Methods. Sixty-six consecutive patients with MG were randomly divided into two groups: the treatment group treated with SFI and methylprednisolone pulse therapy (MPT and the control group treated with MPT alone. The severity of MG before, during, and after MPT and the duration of transient worsening (TW were evaluated and compared with the clinical absolute scoring (AS and relative scoring (RS system. Results. Twenty-nine patients experienced TW in each group. At TW, the AS was significantly increased (P<0.000 in both groups compared with baseline data, with the AS increase in the treatment group (16.8 ± 2 significantly smaller (P<0.05 than in the control group (24.9 ± 2.5. At the end of the treatment course, the AS for the treatment group was significantly decreased (7.5 ± 0.9 compared with at TW, although no significant difference compared with the control (9.7 ± 1.1. The TW lasted 1–6 days (mean 3.7 for the treatment group, significantly shorter (P<0.05 than 2–12 days (mean 7.8 for the control. The RS for the treatment group at the end of treatment was 43.8%–100% (mean 76.8% ± 2.6%, significantly better than the control group: 33.3%–100% (mean 67.2 ± 3.6%. Slight side effects (18.75% included maldigestion and rash in the treatment group. Conclusion. SFI has a better treatment effect and few side effects and can alleviate the severity and shorten the duration of the transient worsening of MG during steroids pulse therapy.

  16. 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

  17. 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.

  18. 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

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

    Science.gov (United States)

    Nakasone, Etsuko; Nakayama, Masayuki; Bando, Masashi; Endo, Shunsuke; Hironaka, Mitsugu; Sugiyama, Yukihiko

    2010-08-01

    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. PMID:20803975

  20. 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)

  1. 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

  2. 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

  3. HLA genotypes in Turkish patients with myasthenia gravis: comparison with multiple sclerosis patients on the basis of clinical subtypes and demographic features.

    Science.gov (United States)

    Dönmez, Berril; Ozakbas, Serkan; Oktem, Mehmet Ali; Gedizlioglu, Muhtesem; Coker, Isil; Genc, Ahmet; Idiman, Egemen

    2004-07-01

    The nature and intensity of the association of myasthenia gravis (MG) with distinct human leukocyte antigens (HLA) haplotypes differ between ethnic populations. The aims of the present study were to examine the relationship between HLA class I and II haplotypes and MG; to show the HLA associations with various MG subsets; and to investigate the association between MG and clinical subgroups of multiple sclerosis (MS) regarding HLA haplotypes. A total of 66 patients with MG were enrolled onto the study. The mean age at onset was 42.01 years. A total of 122 clinically definite MS patients and 188 healthy subjects were examined as control groups. The present study clearly showed associations with HLA-DR3, -B8, -A1, and -A2 in MG. In patients with early-onset MG, associations with HLA-DR3, -B8, and -A2 were stronger. When compared with MS, in the MG group, there was still a strong association with -B8, -DR3, and -A1. In subgroup analysis, there was no difference between MG and primary progressive MS patients. On the basis of the presence of anti-AChR antibodies, there was a statistically significant association with HLA-DR3. On the basis of presence of thymoma, no HLA allele showed clear associations in MG patients with thymoma. This is the first study to examine the relationship between HLA haplotypes and MG in the Turkish population and to compare MG with another autoimmune disease, MS, on the basis of the HLA haplotypes. Further investigations with a larger population are required to explain this finding. PMID:15301866

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

    Directory of Open Access Journals (Sweden)

    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

  5. 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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. Myopathic changes detected by quantitative electromyography in patients with MuSK and AChR positive myasthenia gravis.

    Science.gov (United States)

    Nikolic, Ana; Basta, Ivana; Stojanovic, Vidosava Rakocevic; Stevic, Zorica; Peric, Stojan; Lavrnic, Dragana

    2016-05-01

    Myopathic changes are frequent a electrophysiological finding in patients with muscle specific tyrosine kinase (MuSK) positive myasthenia gravis (MG). The aim of this study was to explore the importance of quantitative electromyography (EMG) in the detection of myopathic changes in MuSK MG patients. Classical and quantitative EMG were performed in 31 MuSK and 28 acetylcholine receptor (AChR) positive MG patients, matched by sex, age, disease duration and severity. Classical EMG revealed the presence of myopathic changes more frequently in MuSK MG compared to AChR MG patients, especially in the facial muscles. Quantitative EMG registered myopathic lesions more frequently than classical EMG, but the frequency was similar between MuSK and AChR MG patients. Quantitative EMG revealed myopathic changes in the majority of both MuSK and AChR positive MG patients. This examination is sensitive, but it cannot be used to differentiate between MG patients belonging to the different disease groups. It should not be used in isolation. Rather, it should complement classical EMG in the detection of myopathic changes. PMID:26778359

  9. Preoperative Anxiety in Patients With Myasthenia Gravis and Risk for Myasthenic Crisis After Extended Transsternal Thymectomy: A CONSORT Study.

    Science.gov (United States)

    Zou, Jianyong; Su, Chunhua; Lun, Xueping; Liu, Weibing; Yang, Weiling; Zhong, Beilong; Zhu, Haoshuai; Lei, Yiyan; Luo, Honghe; Chen, Zhenguang

    2016-03-01

    A thymectomy can ameliorate the symptoms of myasthenia gravis (MG) and prevent the progression of ocular MG (OMG) to generalized MG (GMG). However, postoperative myasthenic crisis (POMC) is a serious post-thymectomy complication. Preoperative anxiety (POA) is common but typically neglected in MG patients. The association of POA with POMC has not yet been examined.From June 2007 to December 2013, 541 cases of MG were admitted to the First Affiliated Hospital of Sun Yat-sen University (Guangzhou, China). All cases underwent extended transsternal thymectomy (ETT). The clinical and pathological characteristics of these patients, including POA and POMC, were analyzed.A total of 179 patients experienced POA and 67 patients experienced POMC. Patients with POA were more likely to have POMC, a thymoma, and an ectopic thymus. Univariate analysis showed that POMC correlated with POA, presence of an ectopic thymus, dose of pyridostigmine bromide (PYR), presence of a thymoma, MGFA stage, preoperative myasthenic crisis, and postoperative pneumonia. Multivariate logistic regression analysis showed that the independent risk factors for POMC were POA, preoperative myasthenic crisis, higher dose of PYR, and postoperative pneumonia.Our results suggest that clinicians should consider the risk factors for POMC-especially preoperative anxiety-before performing a thymectomy in patients with MG. PMID:26962777

  10. Autoimmune polyglandular syndrome type 2 - a case report

    Directory of Open Access Journals (Sweden)

    Bănică Diana

    2014-03-01

    Full Text Available 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, myasthenia gravis, celiac disease, pernicious anemia, alopecia, vitiligo. We are going to present the case of a patient, aged 40, with diabetes mellitus (probably latent autoimmune diabetes of the adult, chronic autoimmune thyroiditis and celiac disease.

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  13. Evaluation of repetitive stimulation test (RST in 30 patients with Myasthenia Gravis, who were previously confirmed by clinical sign and tensilon test 1996-99

    Directory of Open Access Journals (Sweden)

    "Ghabaee M

    2001-07-01

    Full Text Available est (RST is the most commonly used electrodiagnostic test to asses the defect of neuromuscular transmission, which is reported to be positive in the diffuse and restricted ocular forms 60-95% and 14-50%, respectively. In a cross-sectional study, to determine the efficacy of repetitive stimulation test in myasthenia gravis, we evaluated the results in 30 cases who were hospitalized in Imam Khomeini Hospital during 1996-1999. Patients were first selected clinically and then confirmed by Tensilon test.Various clinical types including generalized and restricted ocular forms with different severity and duration were entered in this study. Considering the fact that the positiveness of the test is enhanced by assessment of more muscle groups, we evaluated decremental response in the facial, proximal and distal muscles of limbs. 90% of patients had the generalized form of the disease, whereas ocular myasthenia gravis was seen only in 10% of the cases. 74% of females and 73% of males showed positive response (overall: 73.3%. No significant association was found between the positive response, and age and sex. Peaks of incidences of the disease for the males were in fourth and sixth decades and for the females in thired decades

  14. A case of syndrome involving the inappropriate secretion of antidiuretic hormone developed during radiation therapy in a patient with invasive thymoma complicated with myasthenia gravis

    International Nuclear Information System (INIS)

    We present the case of a 56-year-old male with a syndrome involving the inappropriate secretion of antidiuretic hormone (SIADH), which developed during radiation therapy for invasive thymoma, complicated with myasthenia gravis (MG). Chest computed tomography revealed a huge mediastinal mass lesion spreading to the pulmonary artery, vena cava and pericardium. He was diagnosed with invasive thymoma, based on the pathological findings of a mediastinal tumor biopsy under computed tomography guidance. He received outpatient radiotherapy for the invasive thymoma, and two weeks after the initiation of radiation at a dose of 22 Gy, was admitted to our hospital because of hypercapnea due to weakness of the diaphragm and disturbance of consciousness. Laboratory examinations of the patient showed hyponatremia, plasma hypoosmolarity in the presence of concentrated urine and inappropriately increased concentration of the plasma antidiuretic hormone. He was also diagnosed as having myasthenia gravis, based on the existence of an anti-acetylcholine receptor antibody. The SIADH was treated by fluid restriction and sodium chloride, and MG was treated with plasma exchange and prednisolone. He recovered from respiratory failure, and his hyponatremia was improved. To our knowledge, this is a rare description of an invasive thymoma associated with SIADH. (author)

  15. 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.

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

    Science.gov (United States)

    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

  17. 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

  18. 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...

  19. 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.

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    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

  2. 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

  3. 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.

  4. An assessment of radioimmunoassay procedures for determination of anti-acetylcholine receptor antibodies in the sera of patients with myasthenia gravis

    International Nuclear Information System (INIS)

    A reproducible radioimmunoassay procedure for the determination of anti-acetylcholine receptor antibodies in the sera of patients with myasthenia gravis is described and examined in detail. The assay combines features of a number of methods previously outlined and allows repeat determinations of antibody titre in a given myasthenic serum sample with coefficient of variation 6%. The mean +- standard deviation for normal human serum anti-acetylcholine receptor antibodies was found by this procedure to be 0.024 +- 0.033 nmol/l α-bungarotoxin binding sites whereas the range for myasthenic patients was 0-139.14 nmol/l with a mean value of 7.55 nmol/l α-bungarotoxin binding sites. (author)

  5. Antibodies to autoantigen targets in myasthenia and their value in clinical practice

    Directory of Open Access Journals (Sweden)

    S. I. Dedaev

    2015-02-01

    Full Text Available Myasthenia gravis is a classic autoimmune disease, which clinical manifestations in the form of weakness and abnormal muscle fatigue, due to the damaging effect of polyclonal antibodies to different structures of the neuromuscular synapse and muscles. The study of autoimmune substrate with myasthenia is routine in many clinics dealing with the problems of neuromuscular pathology, and the identification of high concentration of serum antibodies to a number of antigenic structures is the gold standard in diagnosis.Determination of serum antibodies to various autoimmune targets is an important tool in clinical practice. The majority of patients shows the high concentration of antibodies to AchR that gives the opportunity to use it as an important diagnostic criterion. The specificity of changes in the concentration of AchR-antibodies due to pathogenetic treatment allows to objectify the suppression of autoimmune aggression and evaluate the reliability of remission. However, the absence of AchR-antibodies when there are clear clinical and electromyography signs of myasthenia gravis suggests an autoimmune attack against a number of other targets, the most studied of which is the MuSK. On the contrary, patients with myasthenia gravis associated with thymoma, almost always have a higher level of AchR-antibodies. The presence of thymoma is accompanied by the generation of antibodies to titin and RyR, which is also observed in persons with late-onset myasthenia without thymoma. High concentration of antibodies to these structures can be interpreted as a reliable sign of thymoma in patients younger than 60 years.

  6. 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.

  7. 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 ...

  8. 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

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

    OpenAIRE

    Sâmia Araújo de Sousa Studart; Cleonísio Leite Rodrigues; Carol Barroso Soares; Maria Roseli Monteiro Callado; Walber Pinto Vieira

    2011-01-01

    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 ...

  10. Paraneoplastic disorders affecting the neuromuscular junction: Myastenia gravis associated with paraneoplastic syndrome - case report

    OpenAIRE

    Simeonovska Joveva, Elena; Karakolevska Ilova, Marija; Serafimov, Aleksandar; Petrovski, Stefan; Skenderi, Viollca

    2013-01-01

    Paraneoplastic neurologic disorders can affect any part of the nervous system. Rarely, the motor neuron or motor axons may be affected in patients with cancer , leading to clinical signs and symptoms that resemble ALS. Myasthenia gravis (MG) is the prototypic autoimmune disorder of the nervous system. In most cases ,MG is an idiopathic disorder, and the events leading to the production of acetylcholine receptor autoantibodies are not known. About 15% of the patients have a paraneoplastic for...

  11. 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...

  12. 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

  13. 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...

  14. 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.

  15. MIASTENIA GRAVIS POST-TIMECTOMIE

    Directory of Open Access Journals (Sweden)

    C. Motaş, ,

    2013-06-01

    Full Text Available Although the relationship between myasthenia gravis and thymomas it is well known, with some of myasthenias disappearing after thymectomy, myasthenia may develop after thymoma resection. We present a case of 36 years old man who developed generalized myasthenia 6 years after thymoma surgery; it had been performed tumorectomy, mediastinal fat resection, resection of the anterior wall of left brachiocefalic vein with PTFE patch reconstruction (Masaoka stage III thymoma. After 4 years of corticoid therapy (methylprednisolone he was operated for steroid cataract. 11 years after resection he is tumor-free and the brachiocefalic vein is functional on CT-scan. Myasthenia after thymectomy is rare but possible after thymoma resection; it is not influenced by association of mediastinal fat resection. The titer of specific auto antibodies and the grade of thymoma invasion are predictive factors for myasthenia development after thymectomy.

  16. Slow-binding inhibition of acetylcholinesterase by an alkylammonium derivative of 6-methyluracil: mechanism and possible advantages for myasthenia gravis treatment.

    Science.gov (United States)

    Kharlamova, Alexandra D; Lushchekina, Sofya V; Petrov, Konstantin A; Kots, Ekaterina D; Nachon, Florian; Villard-Wandhammer, Marielle; Zueva, Irina V; Krejci, Eric; Reznik, Vladimir S; Zobov, Vladimir V; Nikolsky, Evgeny E; Masson, Patrick

    2016-05-01

    Inhibition of human AChE (acetylcholinesterase) and BChE (butyrylcholinesterase) by an alkylammonium derivative of 6-methyluracil, C-547, a potential drug for the treatment of MG (myasthenia gravis) was studied. Kinetic analysis of AChE inhibition showed that C-547 is a slow-binding inhibitor of type B, i.e. after formation of the initial enzyme·inhibitor complex (Ki=140 pM), an induced-fit step allows establishment of the final complex (Ki*=22 pM). The estimated koff is low, 0.05 min(-1) On the other hand, reversible inhibition of human BChE is a fast-binding process of mixed-type (Ki=1.77 μM; Ki'=3.17 μM). The crystal structure of mouse AChE complexed with C-547 was solved at 3.13 Å resolution. The complex is stabilized by cation-π, stacking and hydrogen-bonding interactions. Molecular dynamics simulations of the binding/dissociation processes of C-547 and C-35 (a non-charged analogue) to mouse and human AChEs were performed. Molecular modelling on mouse and human AChE showed that the slow step results from an enzyme conformational change that allows C-547 to cross the bottleneck in the active-site gorge, followed by formation of tight complex, as observed in the crystal structure. In contrast, the related non-charged compound C-35 is not a slow-binding inhibitor. It does not cross the bottleneck because it is not sensitive to the electrostatic driving force to reach the bottom of the gorge. Thus C-547 is one of the most potent and selective reversible inhibitors of AChE with a long residence time, τ=20 min, longer than for other reversible inhibitors used in the treatment of MG. This makes C-547 a promising drug for the treatment of this disease. PMID:26929400

  17. 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.

  18. Review on thymoma and thymoma-associated autoimmune diseases

    Directory of Open Access Journals (Sweden)

    Yue-min LI

    2014-10-01

    Full Text Available Thymic carcinomas are tumors of the anterior mediastinum derived from the epithelial cells of the thymus gland. Malignancies linked to thymoma lead to the loss of self-tolerance leading to autoimmune diseases, including myasthenia gravis, pure red cell aplastic anemia, systemic lupus erythematosus and pemphigus etc. In recent years, three main mechanisms have been proposed to elucidate these interactions, such as immature T cell theory, tumor-gene theory and the combination mechanism of cellular and humoral immunity. In fact, the resection of the thymoma is beneficial to many patients of thymoma related autoimmune diseases. DOI: 10.11855/j.issn.0577-7402.2014.08.16

  19. 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 ...

  20. 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 ...

  1. Muscle strength in myasthenia gravis

    DEFF Research Database (Denmark)

    Cejvanovic, S; Vissing, J

    2014-01-01

    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 (P<0.01). Repeated strength measures in individual patients did not differ, suggesting that the muscle...... force reported was not subject to fatigue, but reflected fixed weakness. The male patients showed a greater reduction in muscle force in all eight muscle groups than women with MG (60% vs 77% of normal, P<0.05). In both men and women with MG, strength in shoulder abductors was most affected (51% vs 62...

  2. 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 ...

  3. 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。

  4. 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

  5. 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.

  6. Late-onset myasthenia not on the increase

    DEFF Research Database (Denmark)

    Pedersen, E G; Hallas, Jesper; Hansen, K; Jensen, P E H; Gaist, D

    2013-01-01

    BACKGROUND: An increase in late-onset myasthenia gravis (MG) has been reported. There are few large population-based studies over longer periods of time reflecting recent developments in MG incidence. METHODS: We identified a nationwide cohort of patients with incident myasthenia in Denmark in 1996......-2009. We used a validated algorithm to track subjects based on a combination of diagnosis and prescription (pyridostigmine) data from nationwide registers. Patients with myasthenia were classified into early onset (...

  7. 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

  8. 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 ...

  9. [Glycosylation of autoantibodies in autoimmunes diseases].

    Science.gov (United States)

    Goulabchand, R; Batteux, F; Guilpain, P

    2013-12-01

    Protein glycosylation is one of the most common post-translational modifications, involved in the well described protein biosynthesis process. Protein glycosylation seems to play a major role in the pathogenesis of auto-immune diseases. Herein are described the main alterations of autoantibody glycosylation associated with autoimmunes diseases such as rheumatoid arthritis, IgA glomerulonephritis, Schoenlein-Henoch purpura, Sjögren's syndrome, systemic scleroderma, systemic lupus erythematosus, myasthenia gravis and granulomatosis with polyangiitis (Wegener). Molecular identification of altered immunoglobulin glycosylation could lead to a better understanding of the pathogenesis of those diseases, might allow an evaluation of their biological activity and could even be a new therapeutic target. PMID:24139501

  10. 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

  11. 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

  12. [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

  13. 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

  14. [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

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

    Directory of Open Access Journals (Sweden)

    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.

  16. Myeshenia Gravis Presented with Respiratory Failure

    Directory of Open Access Journals (Sweden)

    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.

  17. 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

  18. A Difficult and Rare Diagnosis of Autoimmune Enteropathy in a Patient Affected by Down Syndrome.

    Science.gov (United States)

    Depince-Berger, Anne; Cremilieux, Clara; Rinaudo-Gaujous, Melanie; Genin, Christian; de Freminville, Benedicte; Lambert, Claude; Bruneau, J; Paul, Stephane

    2016-07-01

    Patients with Down syndrome are more susceptible to autoimmune pathologies, in particular endocrine or digestive diseases such as celiac disease. Autoimmune enteropathy is another form of digestive autoimmune disease, non-gluten-dependant, more often diagnosed in male neonates with immunodysregulation and polyendocrinopathy such as the Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. It also exists in the adult, but this pathology is less known and therefore frequently under-diagnosed. Clinical manifestations are similar to celiac disease, but not improved after a gluten-free diet. Autoimmune enteropathy is frequently associated with other autoimmune diseases, such as thyroiditis, myasthenia gravis, lupus or immune deficiencies, as Common Variable Immunodeficiency. Pathological analysis of intestinal biopsies can frequently distinguish autoimmune enteropathy and celiac disease. Autoimmune enteropathy usually has an important lymphoplasmacytic infiltration of the mucosa and a lack of intraepithelial lymphocytes in the gastrointestinal mucosal surface, while celiac disease usually has a polymorph infiltration of the mucosa and an important intraepithelial lymphocytes infiltration. Nevertheless, the two pathological patterns may overlap. Here we report the first case of a patient with Down syndrome associated to autoimmune enteropathy (initially diagnosed as celiac disease), chronic pancreatitis and cutaneous lupus erythematosus. Even if autoimmune pathologies are much more common in patients with Down syndrome, we would like to report on this rare and original association found in our patient. PMID:27072857

  19. 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

  20. Myasthenia Crisis Induced by Pegylated-Interferon in Patient With Chronic Hepatitis C

    Science.gov (United States)

    Baik, Su Jung; Kim, Tae Hun; Kim, Hye In; Rhie, Jeong Yeon

    2016-01-01

    Abstract Myasthenia gravis is occasionally associated with thymoma that needs surgical resection and may progress to severe respiratory failure. We experienced a rare case of myasthenia crisis during antiviral therapy for chronic hepatitis C, in whom mediastinal thymoma was discovered and successfully managed with surgical thymectomy and meticulous medical care. A 47-year-old-male patient complained of sudden diplopia 1 week after stopping 11-week administration of pegylated-interferon and ribavirin for chronic hepatitis C. Ophthalmologic examinations revealed ptosis on the right eyelid and restricted right eye movement. Myasthenia gravis was confirmed by positive repetitive nerve stimulation test and positive serum antiacetylcholine receptor antibody test, and mediastinal thymoma was found on chest CT scan. The ocular myasthenia gravis progressed to respiratory failure even after discontinuing antiviral treatment but eventually recovered with thymectomy, anticholinesterase administration, steroid pulse therapy, and prolonged ventilator care. We describe the clinical features of this life-threatening complication of interferon treatment along with previous myasthenia crisis cases by interferon for chronic hepatitis C. In patients with chronic hepatitis C who is going to receive interferon-based antiviral treatment, physicians need to keep in mind the potential life-threatening manifestations of myasthenia gravis before and during antiviral treatment especially when patients complain of muscular weakness and easy fatigability. PMID:27227948

  1. Myasthenia Crisis Induced by Pegylated-Interferon in Patient With Chronic Hepatitis C: A Case Report.

    Science.gov (United States)

    Baik, Su Jung; Kim, Tae Hun; Kim, Hye In; Rhie, Jeong Yeon

    2016-05-01

    Myasthenia gravis is occasionally associated with thymoma that needs surgical resection and may progress to severe respiratory failure. We experienced a rare case of myasthenia crisis during antiviral therapy for chronic hepatitis C, in whom mediastinal thymoma was discovered and successfully managed with surgical thymectomy and meticulous medical care.A 47-year-old-male patient complained of sudden diplopia 1 week after stopping 11-week administration of pegylated-interferon and ribavirin for chronic hepatitis C. Ophthalmologic examinations revealed ptosis on the right eyelid and restricted right eye movement. Myasthenia gravis was confirmed by positive repetitive nerve stimulation test and positive serum antiacetylcholine receptor antibody test, and mediastinal thymoma was found on chest CT scan. The ocular myasthenia gravis progressed to respiratory failure even after discontinuing antiviral treatment but eventually recovered with thymectomy, anticholinesterase administration, steroid pulse therapy, and prolonged ventilator care. We describe the clinical features of this life-threatening complication of interferon treatment along with previous myasthenia crisis cases by interferon for chronic hepatitis C.In patients with chronic hepatitis C who is going to receive interferon-based antiviral treatment, physicians need to keep in mind the potential life-threatening manifestations of myasthenia gravis before and during antiviral treatment especially when patients complain of muscular weakness and easy fatigability. PMID:27227948

  2. 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

  3. 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

  4. 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

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

    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

  6. 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

  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. 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

  9. Use of azathioprine for non-thymoma myasthenia and risk of cancer

    DEFF Research Database (Denmark)

    Pedersen, E G; Pottegård, Anton; Hallas, J; Friis, S; Hansen, K; Jensen, P E H; Gaist, D

    2013-01-01

    BACKGROUND AND PURPOSE: To evaluate the association between the use of azathioprine and risk of cancer in patients with non-thymoma myasthenia gravis (MG) in a nationwide setting. METHODS: Case-control study based on population-based registries. Cases were patients with MG with a first time...

  10. 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.

  11. 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...

  12. 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.

  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. Association of a wide invasive malignant thymoma with myastenia gravis and primary hyperparathyroidism due to parathyroid adenoma: case report and review of the literature.

    Science.gov (United States)

    Triggiani, Vincenzo; Guastamacchia, Edoardo; Lolli, Ivan; Troccoli, Giuseppe; Resta, Francesco; Sabbà, Carlo; Ruggieri, Nadia; Tafaro, Emilio

    2006-01-01

    There are few cases described in the world literature reporting an association of thymoma (with myasthenia gravis or not) with hyperparathyroidism. In these cases the hyperparathyroidism was due to the presence of an adenoma or hyperplasic parathyroid tissue either in the cervical region or in an ectopic intrathymic location.(12345) In other cases the syndrome of hypercalcemia was due to the secretion of parathyroid-related protein (PTHRP) (6) or parathyroid hormone (PTH) (7) by the thymoma itself. We report the first case, at the best of our knowledge, of a wide invasive malignant thymoma (type B3), associated with myasthenia gravis and hyperparathyroidism caused by parathyroid adenoma. PMID:16873103

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. 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 ...

  2. Selenomethionine Se 75 thymus scans in myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Toole, J.F.; Cowan, R.; Maynard, D.; Witcofski, R.L.; Janeway, R.

    1975-01-01

    In 1966, Toole and Witcofski introduced selenomethionine Se 75 mediastinal scanning as a diagnostic test for thymomas. Since then we have performed such scans on patients with myasthenic syndrome. Because the technique is atraumatic, safe, and accurate, it can be performed on critically ill myasthenics. Two hundred and fifty microcuries of selenomethionine Se 75 is injected intravenously. Within 1 hour the mediastinum from the suprasternal notch to the ziphoid process is scanned, using a 2 x 3 inch scanner. Delayed scans have been made in a few instances but they have not increased the number of positive cases. Selenomethionine Se 75 is incorporated into tissues undergoing rapid protein synthesis such as thyroid, pancreas, liver, and lymphomas. Of the 34 mediastinal scans performed on myasthenics between 1966 and December 31, 1974, 4 were positive for thymoma. In addition, there was a positive scan with uptake in an area of atelectasis of the lung adjacent to the mediastinum. Of interest is the fact that 1 patient with carcinoma of the lung had a positive scan over the lesion. In 13 patients with chronic lymphatic leukemia the mediastinal scans were negative. In another patient with a mediastinal mass noted on chest x-ray, a variety of differential diagnostic possibilities were considered, such as pericardial cyst, dermoid, and aneurysm. A selenomethionine scan was strongly positive, suggesting a thymoma which subsequent surgery confirmed.

  3. Selenomethionine Se 75 thymus scans in myasthenia gravis

    International Nuclear Information System (INIS)

    In 1966, Toole and Witcofski introduced selenomethionine Se 75 mediastinal scanning as a diagnostic test for thymomas. Since then we have performed such scans on patients with myasthenic syndrome. Because the technique is atraumatic, safe, and accurate, it can be performed on critically ill myasthenics. Two hundred and fifty microcuries of selenomethionine Se 75 is injected intravenously. Within 1 hour the mediastinum from the suprasternal notch to the ziphoid process is scanned, using a 2 x 3 inch scanner. Delayed scans have been made in a few instances but they have not increased the number of positive cases. Selenomethionine Se 75 is incorporated into tissues undergoing rapid protein synthesis such as thyroid, pancreas, liver, and lymphomas. Of the 34 mediastinal scans performed on myasthenics between 1966 and December 31, 1974, 4 were positive for thymoma. In addition, there was a positive scan with uptake in an area of atelectasis of the lung adjacent to the mediastinum. Of interest is the fact that 1 patient with carcinoma of the lung had a positive scan over the lesion. In 13 patients with chronic lymphatic leukemia the mediastinal scans were negative. In another patient with a mediastinal mass noted on chest x-ray, a variety of differential diagnostic possibilities were considered, such as pericardial cyst, dermoid, and aneurysm. A selenomethionine scan was strongly positive, suggesting a thymoma which subsequent surgery confirmed

  4. 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

  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. 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

  7. 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

  8. 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

  9. 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.

  10. 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

  11. 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

  12. An Adult Patient with Ocular Myasthenia and Unusually Long Spontaneous Remission

    Directory of Open Access Journals (Sweden)

    Jasem Al-Hashel

    2014-01-01

    Full Text Available A male patient developed ocular myasthenia gravis (MG at the age of 33. He was anti-acetylcholine receptor antibody (anti-AChR Ab negative. He received cholinesterase blocker for 5 months and went into a complete clinical remission that lasted untreated for 17 years. He relapsed recently with ocular symptoms only. He is now anti-AChR Ab positive and SFEMG is abnormal in a facial muscle. The patient is controlled with steroids. He had one of the longest spontaneous remissions reported in the natural history of MG, particularly unusual for an adult with the disease.

  13. Computed tomography of the anterior mediastinum in myasthemia gravis: a radiologic-pathologic correlative study

    Energy Technology Data Exchange (ETDEWEB)

    Fon, G.T.; Bein, M.E.; Mancuso, A.A.; Keesey, J.C.; Lupetin, A.R.; Wong, W.S.

    1982-01-01

    Chest radiographs and computed tomographic (CT) scans of the mediastinum were correlated with pathologic findings of the thymus following thymectomy in 57 patients with myasthenia gravis. Based on the patient's age and the overall morphology of the anterior mediastinum, CT scans were assigned one of four grades in an attempt to predict thymus pathologic findings. Using this grading, 14 of 16 cases of thymoma were suspected or definitely diagnosed. One of the two cases not diagnosed on CT was a microscopic tumor. There were no false-positive diagnoses in 11 cases graded as definitely thymoma. We conclude that thymoma can be sensitively diagnosed in patients older than 40 years of age. However, thymoma cannot be predicted with a high level of confidence in patients younger than 40 because of the difficulty in differentiating normal thymus or hyperplasia from thymoma. Recommendations for the use of CT in the preoperative evaluation of myasthenic patients are presented.

  14. 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 ...

  15. 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 ...

  16. Autoimmune Hepatitis

    Science.gov (United States)

    ... diagnosed? A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, ... 2. A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, ...

  17. Autoimmune pancreatitis

    Directory of Open Access Journals (Sweden)

    Bo-Guang Fan

    2009-01-01

    Full Text Available Since the autoimmune pancreatitis was introduced in 1995, it has been recognized as a form of chronic pancreatitis, which is always associated with autoimmune manifestations. As the improvement of technical and instrumental made in ultrasonography, computed tomography and magnetic resonance imaging, the diagnoses of autoimmune pancreatitis is no longer such difficult. Even though the treatment of autoimmune pancreatitis is available with a conservative therapy, there are many points that are still unclearly. These have stimulated widespread interest in this disease from gastroenterologists, endoscopists, pathologists, and prevalent research. The present article provides with our better understanding of the diagnosis and treatment of autoimmune pancreatitis.

  18. Autoimmune pancreatitis

    Directory of Open Access Journals (Sweden)

    Bo-Guang Fan

    2009-09-01

    Full Text Available Since the autoimmune pancreatitis was introduced in 1995, it has been recognized as a form of chronic pancreatitis, which is always associated with autoimmune manifestations. As the improvement of technical and instrumental made in ultrasonography, computed tomography and magnetic resonance imaging, the diagnoses of autoimmune pancreatitis is no longer such difficult. Even though the treatment of autoimmune pancreatitis is available with a conservative therapy, there are many points that are still unclearly. These have stimulated widespread interest in this disease from gastroenterologists, endoscopists, pathologists, and prevalent research. The present article provides with our better understanding of the diagnosis and treatment of autoimmune pancreatitis.

  19. 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

  20. Effect of ultra-low dose whole-body-irradiation on severe patients with myasthenia gravis

    International Nuclear Information System (INIS)

    An ultra-low dose whole body irradiation therapy was given to 5 patients with intractable bulbar syndrome, in a dose of 10 rad/fraction, 2 times a week for 5 weeks, with a total of 100 rad; and effects of this therapy on their clinical symptoms and immunological ability were discussed. In 3 of them, bulbar syndrome was improved, and the other one, the first irradiation was effective. The peripheral leukocyte count and lymphocyte count became lowest immediately after completion of the irradiation, and returned to the normal level within 1 to 2 months. The function of T-cells, especially suppressive T-cells, was recovered; and decrease in B-cells, resulted in a decrease in the AChR antibody titer. (Ueda, J.)

  1. A radioimmunoassay for the quantitative evaluation of anti-human acetylcholine receptor antibodies in myasthenia gravis

    International Nuclear Information System (INIS)

    A radioimmunoassay was developed for the quantitative evaluation of antibodies to the acetylcholine receptor in the serum of myasthenic patients. AcChR was extracted from human muscle. A detailed preparation of the 125I-labelled α-Bgt-AcChR complex used as antigen is reported. Usually, an average of 20 pmol were obtained from 100 g muscle. This preparation is stable for 1 month in presence of an inhibitor of proteolysis and sufficient for performing about fifteen assays. The labelled complex was incubated with increasing amounts of sera and precipitated with anti-human IgG serum. Titres were expressed in pmol 125I-labelled α-Bgt-AcChR complex precipitated per ml serum. Out of thirty-nine sera tested thirty-six had positive titres ranging from 0.1 to 46 pmol/ml. No anti-AcChR were detected in the sera from twenty-seven patients used as controls. (author)

  2. Effect of ultra-low dose whole-body-irradiation on patients with severe myasthenia gravis

    Energy Technology Data Exchange (ETDEWEB)

    Arimori, Shigeru; Koriyama, Kenji (Tokai Univ., Isehara, Kanagawa (Japan). School of Medicine)

    1982-12-01

    An ultra-low dose whole body irradiation therapy was given to 5 patients with intractable bulbar syndrome, in a dose of 10 rad/fraction, 2 times a week for 5 weeks, with a total of 100 rad; and effects of this therapy on their clinical symptoms and immunological ability were discussed. In 3 of them, bulbar syndrome was improved, and the other one, the first irradiation was effective. The peripheral leukocyte count and lymphocyte count became lowest immediately after completion of the irradiation, and returned to the normal level within 1 to 2 months. The function of T-cells, especially suppressive T-cells, was recovered; and decrease in B-cells, resulted in a decrease in the AChR antibody titer.

  3. 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.

  4. 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: ...

  5. 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...

  6. [Autoimmune encephalitis].

    Science.gov (United States)

    Davydovskaya, M V; Boyko, A N; Beliaeva, I A; Martynov, M Yu; Gusev, E I

    2015-01-01

    The authors consider the issues related to pathogenesis, clinical features, diagnosis and treatment of autoimmune encephalitis. It has been demonstrated that the development of autoimmune encephalitis can be associated with the oncologic process or be of idiopathic character. The pathogenesis of autoimmune encephalitis is caused by the production of antibodies that directly or indirectly (via T-cell mechanism) damage exo-and/or endocellular structures of the nerve cells. The presence of antobodies to endocellular structures of neurons in the cerebrospinal fluid of patients with autoimmune encephalitis in the vast majority of cases (> 95%) indicates the concomitant oncologic process, the presence of antibodies to membranes or neuronal synapses can be not associated with the oncologic process. Along with complex examination, including neuroimaging, EEG, cerebrospinal fluid and antibodies, the diagnostic algorithm in autoimmune encephalitis should include the search for the nidus of cancer. The treatment algorithm in autoimmune encephalitis included the combined immunosupressive therapy, plasmapheresis, immunoglobulines, cytostatics as well as treatment of the oncologic process. PMID:26322363

  7. 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

  8. Autoimmun hypophysitis

    DEFF Research Database (Denmark)

    Krarup, Therese; Hagen, Claus

    2010-01-01

    Autoimmune hypophysitis (AH) - often referred to as lymphocytic hypophysitis - is a rare disease that affects the pituitary gland and causes inflammation. The disease enlarges the pituitary gland and the clinical presentations are lack of pituitary function and headaches. AH is mostly seen in women...... 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...

  9. 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

  10. 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...

  11. 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...

  12. 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....

  13. Autoimmune liver disease panel

    Science.gov (United States)

    Liver disease test panel - autoimmune ... Autoimmune disorders are a possible cause of liver disease. The most common of these diseases are autoimmune hepatitis and primary biliary cirrhosis. This group of tests helps your health care provider ...

  14. 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.

  15. 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...

  16. 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.

  17. 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.

  18. 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.

  19. 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...

  20. 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 ...

  1. Autoimmune Inner Ear Disease

    Science.gov (United States)

    ... Find an ENT Doctor Near You Autoimmune Inner Ear Disease Autoimmune Inner Ear Disease Patient Health Information ... with a hearing loss. How Does the Healthy Ear Work? The ear has three main parts: the ...

  2. 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 ...

  3. Octonionic Gravi-electromagnetism and Dark Matter

    CERN Document Server

    Chanyal, B C; Negi, O P S

    2015-01-01

    An attempt has been made to analyse the the role of octonions in various uni?ed ?eld theories associated with dyons and the dark matter. Starting with the split octonion al- gebra and its properties, we have discussed the octonionic uni?ed gauge formulation for SU(2) ?X U(1) electroweak theory and SU(3) X? SU(2) ?X U(1) grand uni?ed theory. De- scribing the octonion eight dimensional space as the combination of two quaternionic spaces (namely associated with the electromagnetic interaction (EM-space) and linear gravitational interaction (G-space)), we have reexamined the uni?ed picture of EM-G space in terms of oc- tonionic split formulation in consistent manner. Consequently, we have obtained the various ?eld equations for uni?ed gravi-electromagnetic interactions. Furthermore, we have recon- structed the ?eld equations of hot and cold dark matter in terms of split octonions. It is shown that the di?erence between the octonion cold dark matter (OCDM) and the octonion hot dark matter (OHDM) is signi?cant in t...

  4. 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.

  5. 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...

  6. 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

  7. Environmental Basis of Autoimmunity.

    Science.gov (United States)

    Floreani, Annarosa; Leung, Patrick S C; Gershwin, M Eric

    2016-06-01

    The three common themes that underlie the induction and perpetuation of autoimmunity are genetic predisposition, environmental factors, and immune regulation. Environmental factors have gained much attention for their role in triggering autoimmunity, with increasing evidence of their influence as demonstrated by epidemiological studies, laboratory research, and animal studies. Environmental factors known to trigger and perpetuate autoimmunity include infections, gut microbiota, as well as physical and environmental agents. To address these issues, we will review major potential mechanisms that underlie autoimmunity including molecular mimicry, epitope spreading, bystander activation, polyclonal activation of B and T cells, infections, and autoinflammatory activation of innate immunity. The association of the gut microbiota on autoimmunity will be particularly highlighted by their interaction with pharmaceutical agents that may lead to organ-specific autoimmunity. Nonetheless, and we will emphasize this point, the precise mechanism of environmental influence on disease pathogenesis remains elusive. PMID:25998909

  8. 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 and...... another to an autoimmune steady state characterized by widespread tissue damage and immune activation. We show how a triggering event may move the system from the healthy to the autoimmune state and how transient immunosuppressive treatment can move the system back to the healthy state....

  9. 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

  10. 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"…

  11. Autoimmune liver disease, autoimmunity and liver transplantation.

    Science.gov (United States)

    Carbone, Marco; Neuberger, James M

    2014-01-01

    Primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC) and autoimmune hepatitis (AIH) represent the three major autoimmune liver diseases (AILD). PBC, PSC, and AIH are all complex disorders in that they result from the effects of multiple genes in combination with as yet unidentified environmental factors. Recent genome-wide association studies have identified numerous risk loci for PBC and PSC that host genes involved in innate or acquired immune responses. These loci may provide a clue as to the immune-based pathogenesis of AILD. Moreover, many significant risk loci for PBC and PSC are also risk loci for other autoimmune disorders, such type I diabetes, multiple sclerosis and rheumatoid arthritis, suggesting a shared genetic basis and possibly similar molecular pathways for diverse autoimmune conditions. There is no curative treatment for all three disorders, and a significant number of patients eventually progress to end-stage liver disease requiring liver transplantation (LT). LT in this context has a favourable overall outcome with current patient and graft survival exceeding 80% at 5years. Indications are as for other chronic liver disease although recent data suggest that while lethargy improves after transplantation, the effect is modest and variable so lethargy alone is not an indication. In contrast, pruritus rapidly responds. Cholangiocarcinoma, except under rigorous selection criteria, excludes LT because of the high risk of recurrence. All three conditions may recur after transplantation and are associated with a greater risk of both acute cellular and chronic ductopenic rejection. It is possible that a crosstalk between alloimmune and autoimmune response perpetuate each other. An immunological response toward self- or allo-antigens is well recognised after LT in patients transplanted for non-autoimmune indications and sometimes termed "de novo autoimmune hepatitis". Whether this is part of the spectrum of rejection or an autoimmune

  12. 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 ...

  13. 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.

  14. Identifying patients with myasthenia for epidemiological research by linkage of automated registers

    DEFF Research Database (Denmark)

    Pedersen, Emil Greve; Hallas, Jesper; Hansen, Klaus; Jensen, Poul Erik Hyldgaard; Gaist, David

    2011-01-01

    We validated a new method of identifying patients with incident myasthenia in automated Danish registers for the purpose of conducting epidemiological studies of the disorder.......We validated a new method of identifying patients with incident myasthenia in automated Danish registers for the purpose of conducting epidemiological studies of the disorder....

  15. 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.

  16. 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

  17. 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...

  18. 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.

  19. 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 ...

  20. Silica, Silicosis, and Autoimmunity.

    Science.gov (United States)

    Pollard, Kenneth Michael

    2016-01-01

    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 systemic lupus erythematosus, systemic sclerosis, and rheumatoid arthritis. 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, and 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. PMID:27014276

  1. 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.

  2. Autoimmune basal ganglia disorders.

    Science.gov (United States)

    Dale, Russell C; Brilot, Fabienne

    2012-11-01

    The basal ganglia are deep nuclei in the brain that include the caudate, putamen, globus pallidus, and substantia nigra. Pathological processes involving the basal ganglia often result in disorders of movement and behavior. A number of different autoimmune disorders predominantly involve the basal ganglia and can result in movement and psychiatric disorders. The classic basal ganglia autoimmune disorder is Sydenham chorea, a poststreptococcal neuropsychiatric disorder. Resurgence in the interest in Sydenham chorea is the result of the descriptions of other poststreptococcal neuropsychiatric disorders including tics and obsessive-compulsive disorder, broadly termed pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection. Encephalitic processes affecting the basal ganglia are also described including the syndromes basal ganglia encephalitis, encephalitis lethargica, and bilateral striatal necrosis. Last, systemic autoimmune disorders such as systemic lupus erythematosus and antiphospholipid syndrome can result in chorea or parkinsonism. Using paradigms learned from other autoantibody associated disorders, the authors discuss the autoantibody hypothesis and the role of systemic inflammation in autoimmune basal ganglia disorders. Identification of these entities is important as the clinician has an increasing therapeutic repertoire to modulate or suppress the aberrant immune system. PMID:22832771

  3. 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.

  4. 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

  5. [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

  6. Autoimmunity in Addison's disease.

    Science.gov (United States)

    Martín Martorell, P; Roep, B O; Smit, J W A; Martorell, P M

    2002-08-01

    Addison's disease has a low incidence and is most frequently the result of an autoimmune disease in developed countries. Addison's disease can present as an isolated entity or in combination with other autoimmune diseases: Addison's disease can be part of the distinct polyglandular autoimmune syndromes APS I and II. Autoantibodies in patients with isolated Addison's disease are directed against the enzymes involved in steroid synthesis, P45oc21, P45oscc and P45oc17. Addison's disease, both isolated and in the context of APS II, has been associated with the haplotype HLA-A1, -B8 and DR3. The value of the increased expression of these molecules on adrenocortical cells could point towards an infectious pathogenesis. Given the prevalence, up to 80 %, of autoantibodies in Addison's disease as well as the high predictive value for developing the disease when antibodies are present (41% in three years), we advise screening high-risk populations, such as patients with other autoimmune endocrinopathies or their relatives for the presence of these antibodies. The adrenocortical function of patients positive for antibodies should be followed yearly. PMID:12430572

  7. 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

  8. Autoimmune paediatric liver disease

    Directory of Open Access Journals (Sweden)

    Giorgina Mieli-Vergani, Diego Vergani

    2008-06-01

    Full Text Available 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

  9. 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

  10. [Polyglandular autoimmune syndromes : An overview].

    Science.gov (United States)

    Komminoth, P

    2016-05-01

    Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. The two most important forms of PGAS are the juvenile and adult types. The juvenile type (PGAS type 1) is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21, exhibits geographic variations in incidence and is defined by the combination of mucocutaneous candidiasis, Addison's disease and hypoparathyroidism. In addition, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome and other autoimmune diseases can also occur. The adult form of PGAS (PGAS type 2) is a multigenetic disorder associated with some HLA haplotypes, is more common than the juvenile type, shows female predominance and exhibits the combination of type 1 diabetes, autoimmune thyroid disease, Addison's disease and other autoimmune disorders. The histological alterations in affected organs of PGAS patients are similar to findings in sporadically occurring autoimmune diseases of these organs but there are no pathognomic fine tissue findings. If patients exhibit autoimmune changes in two different endocrine glands or if there are indications of several autoimmune disorders from the patient history, it is important to consider PGAS and inform the clinicians of this suspicion. PMID:27099223

  11. 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.

  12. Gangliosides and autoimmune diabetes.

    Science.gov (United States)

    Misasi, R; Dionisi, S; Farilla, L; Carabba, B; Lenti, L; Di Mario, U; Dotta, F

    1997-09-01

    Gangliosides are sialic acid-containing glycolipids which are formed by a hydrophobic portion, the ceramide, and a hydrophilic part, i.e. the oligosaccharide chain. First described in neural tissue, several studies have shown that gangliosides are almost ubiquitous molecules expressed in all vertebrate tissues. Within cells, gangliosides are usually associated with plasma membranes, where they can act as receptors for a variety of molecules and have been shown to take part in cell-to-cell interaction and in signal transduction. In addition, gangliosides are expressed in cytosol membranes like those of secretory granules of some endocrine cells (adrenal medulla, pancreatic islets). As far as the role of gangliosides in diseases is concerned, there are some cases in which an aberrant ganglioside expression plays a crucial role in the disease pathogenetic process. These diseases include two major forms of ganglioside storage, namely GM2-gangliosidosis (Tay-Sachs and its beta-hexosaminidase deficiency) and GM1-gangliosidosis (beta-galactosidase deficiency), where the most prominent pathological characteristic is the lysosomal ganglioside accumulation in neurons. Other inflammatory or degenerative diseases both within and outside the nervous system have been shown to be associated with an altered pattern of ganglioside expression in the target organ. Since monoclonal antibodies have been discovered and used in immunology, a large variety of ganglioside antigens has been described both as blood group antigens and as tumour-related antigens. Several studies have also indicated that gangliosides can act not only as antigens, but also as autoantigens. As a matter of fact, auto-antibodies to gangliosides, detected by immunostaining methods performed directly on TLC plates or by ELISA, have been described in several autoimmune disorders such as Guillain-Barré syndrome, multiple sclerosis, lupus erythematosus, Hashimoto's thyroiditis and, last but not least, insulin

  13. 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

  14. Postoperative survival for patients with thymoma complicating myasthenia gravis—preliminary retrospective results of the ChART database

    Science.gov (United States)

    Wang, Fangrui; Fu, Jianhua; Shen, Yi; Wei, Yucheng; Tan, Lijie; Zhang, Peng; Han, Yongtao; Chen, Chun; Zhang, Renquan; Li, Yin; Chen, Keneng; Chen, Hezhong; Liu, Yongyu; Cui, Youbing; Wang, Yun; Yu, Zhentao; Zhou, Xinming; Liu, Yangchun; Liu, Yuan; Gu, Zhitao

    2016-01-01

    Background 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- and 10-year overall survival (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 3/4 (P=0.003). Among patients with advanced stage thymoma (stage 3, 4a, 4b), the constituent ratios of 3, 4a, 4b 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. Conclusions Although MG is not an independent prognostic factor, the survival of patients with thymoma was superior when MG was present, especially in late Masaoka stage

  15. 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

  16. MDSC in Autoimmunity

    OpenAIRE

    Cripps, James G.; Gorham, James D.

    2011-01-01

    Myeloid derived suppressor cells (MDSC) were first described nearly two decades ago. Until recently, however, descriptions of MDSC populations were found almost exclusively in animal models of cancer or in cancer patients. Over the last few years, an increasing number of reports have been published describing populations of myeloid cells with MDSC-like properties in murine models of autoimmune disease. In contrast to the proposed deleterious role of MDSC in cancer - where these cells likely i...

  17. 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.

  18. 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.

  19. 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...

  20. 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...

  1. 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...

  2. 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

  3. Autoimmune diseases and myelodysplastic syndromes.

    Science.gov (United States)

    Komrokji, Rami S; Kulasekararaj, Austin; Al Ali, Najla H; Kordasti, Shahram; Bart-Smith, Emily; Craig, Benjamin M; Padron, Eric; Zhang, Ling; Lancet, Jeffrey E; Pinilla-Ibarz, Javier; List, Alan F; Mufti, Ghulam J; Epling-Burnette, Pearlie K

    2016-05-01

    Immune dysregulation and altered T-cell hemostasis play important roles in the pathogenesis of myelodysplastic syndromes (MDS). Recent studies suggest an increased risk of MDS among patients with autoimmune diseases. Here, we investigated the prevalence of autoimmune diseases among MDS patients, comparing characteristics and outcomes in those with and without autoimmune diseases. From our study group of 1408 MDS patients, 391 (28%) had autoimmune disease, with hypothyroidism being the most common type, accounting for 44% (n = 171) of patients (12% among all MDS patients analyzed). Other autoimmune diseases with ≥5% prevalence included idiopathic thrombocytopenic purpura in 12% (n = 46), rheumatoid arthritis in 10% (n = 41), and psoriasis in 7% (n = 28) of patients. Autoimmune diseases were more common in female MDS patients, those with RA or RCMD WHO subtype, and those who were less dependent on red blood cell transfusion. Median overall survival (OS) was 60 months (95% CI, 50-70) for patients with autoimmune diseases versus 45 months (95% CI, 40-49) for those without (log-rank test, P = 0.006). By multivariate analysis adjusting for revised IPSS and age >60 years, autoimmune diseases were a statistically significant independent factor for OS (HR 0.78; 95% CI, 0.66-0.92; P = 0.004). The rate of acute myeloid leukemia (AML) transformation was 23% (n = 89) in MDS patients with autoimmune disease versus 30% (n = 301) in those without (P = 0.011). Patient groups did not differ in response to azacitidine or lenalidomide treatment. Autoimmune diseases are prevalent among MDS patients. MDS patients with autoimmune diseases have better OS and less AML transformation. Am. J. Hematol. 91:E280-E283, 2016. © 2016 Wiley Periodicals, Inc. PMID:26875020

  4. 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.

  5. 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.

  6. Antinuclear antibodies defining autoimmunity pathways

    OpenAIRE

    Tan, Eng M.

    2014-01-01

    Immunofluorescent imaging has been a powerful technique in helping to identify intracellular nuclear and cytoplasmic molecules which are target antigens of autoantibodies in systemic autoimmune disorders. Patterns of staining can be correlated with molecules engaged in specific cellular functions and distributed in distinct cellular domains. Different autoimmune disorders have different profiles of autoantibodies, and immunodiagnostics has become an important adjunct in differential diagnosis...

  7. 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

  8. 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.

  9. 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.

  10. 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. PMID:26903475

  11. Thymoma followed by aplastic anemia: two different responses to immunosuppressive therapy

    OpenAIRE

    Murilo Antunes de Castro; Mariana Antunes de Castro; Adriano de Moraes Arantes; Maria do Rosário Ferraz Roberti

    2011-01-01

    Aplastic anemia is an uncommon complication of thymoma and is extremely infrequent after the surgical removal of a thymic tumor. Aplastic anemia is a result of marrow failure and is characterized by peripheral pancytopenia and severely depressed marrow cellularity; it may be an autoimmune manifestation of thymoma. As thymoma-associated hematological dyscrasias, which include pure red cell aplasia, aplastic anemia and myasthenia gravis, are supposed to be of immunologic origin, two cases of ve...

  12. 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

  13. 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...

  14. 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...

  15. [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

    2016-05-26

    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. PMID:27234865

  16. 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 ...

  17. Sex differences in autoimmune diseases

    Directory of Open Access Journals (Sweden)

    Voskuhl Rhonda

    2011-01-01

    Full Text Available Abstract Women are more susceptible to a variety of autoimmune diseases including systemic lupus erythematosus (SLE, multiple sclerosis (MS, primary biliary cirrhosis, rheumatoid arthritis and Hashimoto's thyroiditis. This increased susceptibility in females compared to males is also present in animal models of autoimmune diseases such as spontaneous SLE in (NZBxNZWF1 and NZM.2328 mice, experimental autoimmune encephalomyelitis (EAE in SJL mice, thyroiditis, Sjogren's syndrome in MRL/Mp-lpr/lpr mice and diabetes in non-obese diabetic mice. Indeed, being female confers a greater risk of developing these diseases than any single genetic or environmental risk factor discovered to date. Understanding how the state of being female so profoundly affects autoimmune disease susceptibility would accomplish two major goals. First, it would lead to an insight into the major pathways of disease pathogenesis and, secondly, it would likely lead to novel treatments which would disrupt such pathways.

  18. Epigenetic alterations underlying autoimmune diseases.

    Science.gov (United States)

    Aslani, Saeed; Mahmoudi, Mahdi; Karami, Jafar; Jamshidi, Ahmad Reza; Malekshahi, Zahra; Nicknam, Mohammad Hossein

    2016-03-01

    Recent breakthroughs in genetic explorations have extended our understanding through discovery of genetic patterns subjected to autoimmune diseases (AID). Genetics, on the contrary, has not answered all the conundrums to describe a comprehensive explanation of causal mechanisms of disease etiopathology with regard to the function of environment, sex, or aging. The other side of the coin, epigenetics which is defined by gene manifestation modification without DNA sequence alteration, reportedly has come in to provide new insights towards disease apprehension through bridging the genetics and environmental factors. New investigations in genetic and environmental contributing factors for autoimmunity provide new explanation whereby the interactions between genetic elements and epigenetic modifications signed by environmental agents may be responsible for autoimmune disease initiation and perpetuation. It is aimed through this article to review recent progress attempting to reveal how epigenetics associates with the pathogenesis of autoimmune diseases. PMID:26761426

  19. 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...

  20. Gestational Diabetes and Thyroid Autoimmunity

    OpenAIRE

    Fabrizio Monaco; Giorgio Napolitano; Cesidio Giuliani; Ester Vitacolonna; Ines Bucci; Barbara Di Nenno; Annalisa Passante; Annunziata Lapolla; Dominique Cerrone; Fabio Capani

    2012-01-01

    Background. About 10% of pregnancies are complicated by previously unknown impairment of glucose metabolism, which is defined as gestational diabetes. There are little data available on prevalence of thyroid disorders in patients affected by gestational diabetes, and about their postgestational thyroid function and autoimmunity. We therefore investigated pancreatic and thyroid autoimmunity in gestational diabetic patients and in women who had had a previous gestational diabetic pregnancy. Met...