Myasthenia Gravis
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  • ||||||||||  Journal:  Pregnancy Outcomes in Patients with Congenital Myasthenic Syndromes. (Pubmed Central) -  Aug 24, 2022   
    The majority of women with CMS can safely plan pregnancy, but close follow-up is required from their neurology and obstetric teams. Although we identified no safety concerns, continued medication use should be reviewed on a case-by-case basis.
  • ||||||||||  Review, Journal:  Myasthenia gravis in clinical practice. (Pubmed Central) -  Aug 22, 2022   
    Knowledge of the peculiar aspects of their clinical and electrophysiological presentations is important for the diagnosis. Likewise, specific treatment and response time to each drug are crucial for proper care.
  • ||||||||||  Review, Journal:  Seronegative autoimmune diseases: A challenging diagnosis. (Pubmed Central) -  Aug 22, 2022   
    Indeed, in seronegative AID, the diagnosis is more challenging and must rely on clinical features and on other available tests, often including histopathological evaluation and radiological diagnostic tests. In this review, we critically dissect, in a narrative fashion, the possible causes of seronegativity, as well as the diagnostic and management implications, in several AID including autoimmune gastritis, celiac disease, autoimmune liver disease, rheumatoid arthritis, autoimmune encephalitis, myasthenia gravis, Sjögren's syndrome, antiphospholipid syndrome, and autoimmune thyroid diseases.
  • ||||||||||  Vyvgart (efgartigimod alfa-fcab) / argenx, Broteio
    Journal:  Abdeg technology for the treatment of myasthenia gravis: efgartigimod drug experience. (Pubmed Central) -  Aug 22, 2022   
    Efgartigimod was efficacious and safe for generalized myasthenia patients with AChR antibody-positive patients. These findings need to be confirmed in AChR antibody-negative patients, and long-term safety studies are currently ongoing.
  • ||||||||||  Moderator (Moderated Posters 6) -  Aug 20, 2022 - Abstract #AHA2022AHA_5473;    
  • ||||||||||  Congenital myasthenic syndrome: natural history of an Italian cohort of patients (Poster area - Ballroom B1-B2) -  Aug 20, 2022 - Abstract #WMS2022WMS_202;    
    Conversely, no significant changes of upper and lower limb fatigability or timed tests were reported between baseline and following visits. Our preliminary data suggest no overall disease progression over a 2-year period in CMS patients.
  • ||||||||||  Calculating the genetic prevalence of congenital myasthenic syndromes based on data from genomic databases (Poster area - Ballroom B1-B2) -  Aug 20, 2022 - Abstract #WMS2022WMS_198;    
    Based on this, we provide a population-genetic estimation of the genetic prevalence of CMS and compare it to existing published estimates. This data may be used to assign diagnostic probabilities, provide insights into numbers of patients amenable to clinical research and novel therapies, and aid resource allocation in therapy development and healthcare provision.
  • ||||||||||  Clinical characteristics of patients with seronegative myasthenia gravis (Poster area - Ballroom B1-B2) -  Aug 20, 2022 - Abstract #WMS2022WMS_196;    
    Regarding treatment, 70% of seropositive patients have received treatment with at least one steroid-sparing immunosuppressive agent, whereas this is the case for less than 50% of seronegative patients. Data collection is ongoing and final results will be presented and discussed at the poster presentation.
  • ||||||||||  Understanding the role of GFPT1 in congenital myasthenic syndromes (Poster area - Ballroom B1-B2) -  Aug 20, 2022 - Abstract #WMS2022WMS_190;    
    Reduced GFPT1 protein levels also decreased OGT expression and activated the unfolded protein response pathway through splicing of XPB1, further suggesting a cellular response to glycosylation deficiency. We will now use our mouse and cell models to further explore this impact on glycosylation, specifically to determine whether glycosylation deficiencies due to the lack of GFPT1 in muscle impedes the protein localization/function of essential players in neuromuscular transmission.
  • ||||||||||  prednisone / Generic mfg.
    Serum metabolomics differentiates treatment response of myasthenia gravis clinical outcome measures (Flash Poster Presentation areas - Ballroom or Ballroom Salon) -  Aug 20, 2022 - Abstract #WMS2022WMS_184;    
    Using sera obtained at study entry to the thymectomy clinical trial (MGTX), an NIH-sponsored randomized, controlled study of thymectomy plus prednisone versus prednisone alone, we applied ultra-performance liquid chromatography coupled with electro-spray quadrupole time of flight mass spectrometry to obtain comparative serum metabolomic and lipidomic profiles at study entry to correlate with treatment response using the MG-ADL and QMG at 6 months...Pathway analysis also associated QMG change with alterations of lipid metabolism, while amino acid and glucose metabolism pathways were associated with MG-ADL improvement. The results indicate fundamentally different biological underpinnings of the outcome measures in common use in MG clinical trials and supports the common dissociation of patient and physician observation what is means to be better reflected is serum metabolites.
  • ||||||||||  Innervation defect: new pathomechanism of centronuclear myopathy? (Poster area - Ballroom B1-B2) -  Aug 20, 2022 - Abstract #WMS2022WMS_46;    
    Decremental muscle action potential amplitudes and effective AChE-I suggest that myasthenic features in CNM contribute to muscle weakness in this disease. NMJ transmission defect due to postsynaptic structural abnormality is a new pathomechanism of CNM.
  • ||||||||||  Congenital myasthenic syndromes (Ballroom) -  Aug 20, 2022 - Abstract #WMS2022WMS_10;    
    While symptoms included classical features of a mitochondrial disease, some patients also presented with a treatable neuromuscular transmission defect. We will cover the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment.
  • ||||||||||  Soliris (eculizumab) / AstraZeneca
    Can the membrane attack complex be targeted in treating kidney ischaemia reperfusion injury? (Hall 2) -  Aug 19, 2022 - Abstract #BTS2022BTS_128;    
    MAC can be successfully targeted downstream of C5 (through inhibition of the C7/C5b-7 complex) by this novel anti-C7 mAb. Targeting MAC-intermediates has potential as an innovative therapeutic approach in treating kidney IRI and improving outcomes from transplantation.
  • ||||||||||  Journal:  Clinical value of cell-based assays in the characterisation of seronegative myasthenia gravis. (Pubmed Central) -  Aug 18, 2022   
    Around one-third of patients with SNMG had AChR or MuSK antibodies by l-CBAs, which were efficiently detected with a combined l-CBA. The results in this large and unselected cohort of patients with MG demonstrate the diagnostic usefulness of performing CBAs and the importance of making these tests more widely available.
  • ||||||||||  Journal:  LRP4 antibody testing in myasthenia gravis. (Pubmed Central) -  Aug 17, 2022   
    The results in this large and unselected cohort of patients with MG demonstrate the diagnostic usefulness of performing CBAs and the importance of making these tests more widely available. No abstract available
  • ||||||||||  COVID-19 PNEUMONIA COMPLICATED BY EXACERBATION OF NEW DIAGNOSIS OF MYASTHENIA GRAVIS (Convention Center Exhibit Hall: Poster Area) -  Aug 16, 2022 - Abstract #CHEST2022CHEST_1908;    
    During evaluation of patients with respiratory failure secondary to COVID-19 infection, history focused on symptoms that may indicate underlying neuromuscular diseases should be obtained for early diagnosis and proper management. Given the high co-existence, it is important for clinicians to be aware of the association and treatment strategies in such patients.
  • ||||||||||  remifentanil / Generic mfg.
    Complex Spine Surgery In A Myasthenia Gravis Patient With Previous Post Surgical Vision Loss (Hall C) -  Aug 15, 2022 - Abstract #ASA2022ASA_4972;    
    Highlights of our anesthetic approach consisted of preoperative placement of two large bore IVs and arterial line, stress dose steroids, remifentanil infusion to avoid paralytic use, bispectrometry index monitoring, and goal-directed colloid-based fluid therapy. Patient required post-operative neostigmine for adequate ventilation despite paralytic avoidance, with otherwise uncomplicated recovery.