Myasthenia Gravis
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  • ||||||||||  Journal:  A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20. (Pubmed Central) -  Nov 2, 2019   
    The genetic analysis revealed the patient to be compound heterozygous for a new mutation of the SCL5A7 gene. The genetic analysis of congenital myasthenic syndromes provide information on the ultrastructural underlying mechanisms, which is valuable for differential diagnosis and specific treatments.
  • ||||||||||  Journal:  Treatment of juvenile myasthenia gravis (Pubmed Central) -  Nov 2, 2019   
    Although there are differences between the juvenile myasthenia gravis and that of the adult, the data provided by some researches in adults in the treatment of juvenile myasthenia gravis have been used. The different therapeutic options will be evaluated, with the different evidences that sustain it and a treatment algorithm will be elaborated keeping always in mind that each patient offers us different challenges.
  • ||||||||||  Firdapse (amifampridine) / BioMarin, Catalyst Pharma
    Trial completion:  Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes (clinicaltrials.gov) -  Oct 31, 2019   
    P3,  N=20, Completed, 
    The different therapeutic options will be evaluated, with the different evidences that sustain it and a treatment algorithm will be elaborated keeping always in mind that each patient offers us different challenges. Recruiting --> Completed
  • ||||||||||  imatinib / Generic Mfg.
    Journal:  Myasthenia gravis unmasked by imatinib. (Pubmed Central) -  Oct 31, 2019   
    We thus identify an allosteric link connecting the lipid-protein interface of the nAChR to altered channel function. No abstract available
  • ||||||||||  azathioprine orodispersible / Generic Mfg.
    Journal:  "ALS reversals": demographics, disease characteristics, treatments, and co-morbidities. (Pubmed Central) -  Oct 30, 2019   
    While some of these patients may have had a rare antibody-mediated ALS mimicker, such as atypical myasthenia gravis, details of their exams, EMGs and family histories argue that this was unlikely. Instead, our data suggest that ALS reversals warrant evaluation for mechanisms of disease resistance and that treatments associated with multiple ALS reversals deserve further study.
  • ||||||||||  Journal:  Refractory Myasthenia gravis: characteristics of a Portuguese cohort. (Pubmed Central) -  Oct 28, 2019   
    Moreover, it suggests that RAPSN CMS may be underdiagnosed in non-European countries. HLA-DRB1*03 was more common in non-RMG and HLA-DRB1*13 allele appeared to have a protective role as previously reported in other autoimmune disorders.
  • ||||||||||  Journal:  Benign thymic enlargement in myasthenia gravis. (Pubmed Central) -  Oct 27, 2019   
    Thus, neurological and particularly neuromuscular adverse events of immune checkpoint-inhibitor therapy may constitute a new disease entity. No abstract available
  • ||||||||||  Review, Journal:  HLA in myasthenia gravis: From superficial correlation to underlying mechanism. (Pubmed Central) -  Oct 25, 2019   
    Lastly, from a provisional angle, we introduce several precautious treatments for people highly predisposed to MG. Although this is a review focusing on MG, the underlying mechanisms might be applicable in other autoimmune diseases as well.
  • ||||||||||  Clinical, Journal:  Treatment outcome in Juvenile-onset Myasthenia Gravis. (Pubmed Central) -  Oct 24, 2019   
    The MG-ADL-A has rigorous psychometric properties and can be used with Arabic-speaking patients with MG. The treatment outcome for juvenile MG is favorable, with a marked reduction of symptoms and good day-to-day activity achieved for most patients.
  • ||||||||||  Opdivo (nivolumab) / Ono Pharma, BMS, Xolair (omalizumab) / Roche, Novartis, Yervoy (ipilimumab) / Ono Pharma, BMS
    Myasthenic Crisis (MC) Precipitated by Omalizumab (Om) Therapy (Rx): A Rare Adverse Reaction () -  Oct 23, 2019 - Abstract #KIDNEYWEEK2019KIDNEY_WEEK_5528;    
    Results Om has a biological half life of 5 days and typically given twice a month.Information derived from WHO Global individual case safety record database,VigiBase® suggests that there can be latency period of 0.5 to 2.5 years between starting of Om Rx and first appearance of MC symptoms.Precise etiopathogenesis of MG in setting of Om is not well described.Proposed mechanisms may include immune cross-reactivity, impurities in drug triggering secondary AI response and leakage of immunogenic protein A.Precipitation of MC has also been described with other M Abs like Nivolumab and Ipilimumab. Conclusion In conclusion, our case report suggests that high level of vigilance is required while using newer M Abs as reversible side effects such as MC can occur with use of Om years after its first exposure through complex and yet unidentified AI mechanisms.Om due to its high molecular weight, less protein binding and volume of distribution, can be effectively removed by TPE and this may provide a therapeutic option.
  • ||||||||||  Firdapse (amifampridine) / BioMarin, Catalyst Pharmaceuticals
    Review, Journal:  Recent Advances and Therapeutic Options in Lambert-Eaton Myasthenic Syndrome. (Pubmed Central) -  Oct 23, 2019   
    Multiple treatment options have been introduced in the past and, recently, a new drug, amifampridine, has been approved by the Food and Drug Administration (FDA) for the treatment of weakness associated with these patients. We summarize this newly introduced drug with a brief description of other treatment options available.
  • ||||||||||  Clinical, Review, Journal:  Respiratory muscle training in children and adults with neuromuscular disease. (Pubmed Central) -  Oct 18, 2019   
    In ALS there may not be any clinically meaningful effect of RMT on physical functioning or quality of life and it is uncertain whether it causes adverse effects. Due to clinical heterogeneity between the trials and the small number of participants included in the analysis, together with the risk of bias, these results must be interpreted very cautiously.
  • ||||||||||  Journal:  Thymectomy (Pubmed Central) -  Oct 18, 2019   
    Since MGTX trial revealed the significant efficacy of thymectomy in myasthenia gravis patients aged up to 65, the number of patients having operative indication may increase. Therefore, thoracic surgeons should acquire the safe and effective technical skill of thymectomy.
  • ||||||||||  azathioprine orodispersible / Generic Mfg.
    Clinical, Journal:  The clinical features of patients concurrent with Guillain-Barre syndrome and myasthenia gravis. (Pubmed Central) -  Oct 18, 2019   
    Therefore, thoracic surgeons should acquire the safe and effective technical skill of thymectomy. Although comorbidity of GBS and MG is extremely rare, early recognition of this combination of inflammation of peripheral nerves and the neuromuscular junction is of great importance for both initial treatment and a better prognosis.
  • ||||||||||  Journal:  Multiple sclerosis and myasthenia gravis following severe weight loss. (Pubmed Central) -  Oct 18, 2019   
    Two patients lost weight by following a diet plan and one underwent bariatric surgery. There may be an association between significant weight loss and the development of an autoimmune neurological disorder such as MS or MG; a high index of suspicion is required.
  • ||||||||||  Leustatin (cladribine) / J&J
    Clinical, Journal:  Cladribine in myasthenia gravis: a case urging for prudence. (Pubmed Central) -  Oct 16, 2019   
    Our results indicate that our new muscle induction protocol is useful for cell therapy of muscular dystrophies. No abstract available
  • ||||||||||  Unexplained Bromide Toxicity Presenting as Hyperchloremia and Negative Anion Gap (Exhibit Hall, Walter E. Washington Convention Center) -  Oct 14, 2019 - Abstract #KIDNEYWEEK2019KIDNEY_WEEK_4134;    
    Discussion Because of interference by other halogens in routine measurements, a high bromide level can masquerade as hyperchloremia with large negative anion gap. Thus when encountered, bromism should be kept in mind
  • ||||||||||  Clinical, Journal:  Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in Na1.4. (Pubmed Central) -  Oct 11, 2019   
    The rate of recovery from inactivation was hastened, explaining the myotonia in p.R1451L carriers and the absence of myasthenic presentations in the homozygous proband. Our data suggest that recessive loss-of-function Na1.4 variants can present with hypoPP without congenital myopathy or myasthenia and that myotonia can present even in carriers of homozygous Na1.4 loss-of-function mutations.