Gene/Protein Disease Symptom Drug Enzyme Compound
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Nine patients (five women and four men, average age 50.4 years) with refractory myasthenia gravis (MG) underwent thymectomy and were then treated with immunoadsorption under membrane plasmaphersis (IAP). Thymic histology showed hyperplasia in nine patients. An immunoadsorption column (ASAHI, Med, Co) was made with tryptophan. A Plasouto 1,000 (ASAHI, Med, Co) was used as the machine. The plasma separator was a first filter (ASAHI, Med, Co), and immunoadsorption columns were used for plasma perfusion. IAP treatment was performed three times weekly for a total of six times, after which IAP was done every 3 weeks. The removal rate of anti-Ach-R titer was 54 +/- 12%; IgG, IgA, and IgM levels improved in nine of nine patients after IAP treatment, and improvement of gait disturbances were seen in two of two. Muscle strength improved in all nine patients, whereas speech disturbances improved in two of three. Eye ptosis improved in nine of nine patients. Subjective improvement was reported by nine of nine patients, and none had severe side effects with IAP. In conclusion, IAP is a safe, stable, effective, and clinically useful treatment. for MG.
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PMID:Safety, stability, and effectiveness of immunoadsorption under membrane plasmapheresis treatment for myasthenia gravis. 225 58

Myasthenia gravis (MG), a chronic disease characterized by unusual fatigability of voluntary muscles, was first described by Willis. Three forms of MG are seen in childhood: juvenile MG, congenital MG and transient neonatal MG. Aside from age of onset, there is no difference in terms of pathology and pathogenesis between juvenile MG and adult-onset MG. Juvenile MG, like adult MG, appears to result from T-cell-initiated antibodies directed against end-plate Ach receptor protein. The onset of juvenile myasthenia can be insidious, although at times it is rapid, often a sequel to an acute febrile illness. Generally, muscles innervated by the cranial nerves are affected first, with bilateral ptosis being the most common presenting sign. Generalized weakness and dysphagia are less common presenting symptoms, while the clinical course is highly variable.
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PMID:Juvenile form of myasthenia gravis presenting as recurrent pulmonary infection with atelectasis. 1804 13

BACKGROUND HIV infections with concomitant immunologically-mediated disorders have been frequently described but there has been little research on the association between HIV and myasthenia gravis. MuSK myasthenia gravis coexisting with HIV is an even a rarer entity and can occur as a part of immune restoration disease. We report the case of a patient with asymptomatic HIV infection who presented with new-onset MuSK myasthenia gravis. CASE REPORT A 44-year-old African-American woman with HIV since 2004 and on highly active antiretroviral therapy (HAART) presented to the ED with complains of double vision and difficulty swallowing for 2 weeks. The patient was intermittently on HAART therapy. On examination, she had bilateral ptosis, weak orbicularis oris and orbicularis oculi, along with mild lateral gaze palsy of the left eye. Her CD4 count was 383 and the viral load was undetectable. An MRI of the brain produced normal results and a CT chest did not show thymus enlargement. Due to worsening symptoms and high suspicion for myasthenia gravis, she was started on IVIG at 0.4 mg/kg/day for 5 days, and her symptoms markedly improved. She was found to have strongly positive MuSK antibody and negative Ach receptor antibody. Repetitive nerve stimulation showed a 13% decrease in the right median nerve, which confirmed the diagnosis. She was subsequently discharged to home on pyridostigmine. Azathioprine was added at clinic follow-up. The patient continues to improve. CONCLUSIONS As the use of antiretroviral therapy increases, immune reconstitution syndromes have become more common. Rare associations like HIV and MuSK myasthenia gravis are being increasingly reported. The use of immunosuppressants in the treatment of these conditions should be carefully evaluated.
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PMID:Comorbid Human Immunodeficiency Virus (HIV) and Muscle-Specific Kinase (MuSK) Myasthenia Gravis: A Case Report and Literature Review. 2842 53