- |||||||||| [VIRTUAL] Foes: Neurological toxicities related to ICIs (Room Budapest) - Apr 3, 2021 - Abstract #EAN2021EAN_152;
Anti-PD-1/PD-L1 are more frequent in myasthenic syndromes and less common in meningitis and cranial neuropathies, while anti-CTLA-4 are more common in meningitis and less frequent in encephalitis and myositis. Herein, we provide a comprehensive review of the diagnostic approach and management of n-irAEs.
- |||||||||| [VIRTUAL] Fetal and adult AChRs in autoimmune myasthenic syndromes (Room Copenhagen) - Apr 3, 2021 - Abstract #EAN2021EAN_20;
In addition, it is now clear that some surviving children from similar mothers, despite not having severe arthrogryposis, have a persistent facial myopathy. Using an established mouse maternal–to-fetal transfer of human antibodies (Jacobson et al 1999) we have shown that transfer of potentially pathogenic fetal-specific AChR antibodies can be reduced in order to protect the developing fetus (Coutinho et al 2021).
- |||||||||| [VIRTUAL] Fetal and adult AChRs in congenital myasthenic syndromes (Room Copenhagen) - Apr 3, 2021 - Abstract #EAN2021EAN_19;
The majority of what we know about muscle AChR comes from studies of rodent neuromuscular junction and it is tempting to think functional studies of neuromuscular transmission in the mouse can be directly translated to humans, however the congenital myasthenic syndromes teach us to be cautious with this approach. In particular, the expression profile for the AChR ε- and γ-subunits is very different, has a marked impact on phenotype, and needs to be taken into account when developing disease models.
- |||||||||| [VIRTUAL] Reduction of the safety factor in myasthenic syndromes (Room Copenhagen) - Apr 3, 2021 - Abstract #EAN2021EAN_18;
Higher motor neuron firing frequencies were recently proposed to further contribute to a lower safety factor by increasing the release of acetylcholine from the presynaptic terminal and resulting in the accumulation of acetylcholine receptors in desensitised states. The understanding of mechanisms defining the safety factor and underlying disease states is important to direct the clinical management of patients with autoimmune and genetic myasthenic syndromes.
- |||||||||| [VIRTUAL] FW04 The role of the muscle acetylcholine receptor isoforms in myasthenic syndromes (Room Copenhagen) - Apr 3, 2021 - Abstract #EAN2021EAN_17;
Moreover, antibodies specifically directed against the fetal or adult AChR in autoimmune myasthenic syndromes are associated with different neurological phenotypes including myasthenia gravis, fetal acetylcholine receptor inactivation syndrome and arthrogryposis multiplex congenita. Some very recent investigations also provide evidence that fetal specific AChR antibodies could be associated with different pathophysiological mechanisms.
- |||||||||| prednisone / Generic mfg.
Journal: Cranial Nerve IX and X Weakness: An Unusual Initial Presentation of Myasthenia Gravis. (Pubmed Central) - Apr 2, 2021
Thereafter, at outpatient followup, her MG was treated with mycophenolate and prednisone, which led to significant symptom improvement...Our case of a middle-aged woman posed a diagnostic challenge because of her uncommon presentation and comorbidities of panic attacks and obesity. This case highlights the crucial need for a high index of clinical suspicion for MG in any patient presenting with symptoms of CN IX and X weakness.
- |||||||||| Review, Journal: Role of miRNAs in Normal and Myasthenia Gravis Thymus. (Pubmed Central) - Mar 30, 2021
Most of the dysregulated thymic miRNAs in EOMG are associated with GC development, such as miR-7, miR-24, miR-139, miR-143, miR-145, miR-146, miR-150, miR-452, miR-548 or thymic inflammation, such as miR-125b, miR-146, or miR-29. Understanding these pathways may provide therapeutic targets or biomarkers of disease manifestations.
- |||||||||| Clinical, Journal, HEOR: Measuring parent proxy-reported quality of life of 11 rare diseases in children in Zhejiang, China. (Pubmed Central) - Mar 30, 2021
This study showed that patients with PDA had the lowest physical functioning score, while patients with ITP scored the lowest in the emotional functioning, social functioning, school functioning, psychosocial health, and total scores. Incentive policies should be further adopted to improve orphan drug availability and reduce the economic burden of rare diseases.
- |||||||||| methimazole / Generic mfg., propranolol / Generic mfg.
[VIRTUAL] Thyrotoxic Periodic Paralysis () - Mar 27, 2021 - Abstract #ENDO2021ENDO_3432;
He responded well to potassium replacement, and propranolol. He was started on methimazole and offered permanent treatment options to address hyperthyroidism.
- |||||||||| Retrospective data, Journal: Meta-Analysis of Limited Thymectomy versus Total Thymectomy for Masaoka Stage I and II Thymoma. (Pubmed Central) - Mar 27, 2021
However, an overall non-significant difference was found in favor of limited thymectomy with respect to postoperative complications (pooled log OR, -0.21; 95% CI, -1.08 to 0.66; p=0.64; I=36.1%) and overall survival (pooled log OR, -0.01; 95% CI, -0.68 to 0.66; p=0.98; I=47.8%). Based on the results of this systematic review and meta-analysis, limited thymectomy as a treatment for stage I and II thymoma shows similar oncologic outcomes to total thymectomy.
- |||||||||| Rituxan (rituximab) / Biogen, Zenyaku Kogyo, Roche
Journal: Long-Lasting Rituximab-Induced Reduction of Specific-But Not Total-IgG4 in MuSK-Positive Myasthenia Gravis. (Pubmed Central) - Mar 26, 2021
The different trends of reduction between MuSK-IgG4 and total IgG4 after RTX support the view that short-lived Ab-secreting cells are the main producers of MuSK Abs. The ratio between short-lived Ab-secreting cells and long-lived plasma cells may influence the response to RTX, and B-cell severe depletion may reduce self-maintaining autoimmune reactivity.
- |||||||||| Rituxan (rituximab) / Biogen, Zenyaku Kogyo, Roche
Review, Journal: Muscle-Specific Kinase Myasthenia Gravis. (Pubmed Central) - Mar 26, 2021
In addition, patients respond especially well to B cell depletion agents, e.g., rituximab, with long-term remissions. Future treatments will likely derive from the ongoing analysis of the pathogenic mechanisms underlying this disease, including histologic and physiologic studies of the neuromuscular junction in patients as well as information derived from the development and study of animal models of the disease.
- |||||||||| Clinical, Journal: Does the virus or the doctor promote myasthenic crises in COVID-19 patients with myasthenia? (Pubmed Central) - Mar 26, 2021
Future treatments will likely derive from the ongoing analysis of the pathogenic mechanisms underlying this disease, including histologic and physiologic studies of the neuromuscular junction in patients as well as information derived from the development and study of animal models of the disease. No abstract available
- |||||||||| Journal: Myasthenia gravis and muscle atrophy (Pubmed Central) - Mar 24, 2021
All patients underwent quantitative electromyography and repetitive nerve stimulation. The authors suggest that the atrophy is not the sign of myasthenia gravis in this case and is caused by other neuromuscular diseases.
- |||||||||| Clinical, Journal: Anti-CASPR2 clinical phenotypes correlate with HLA and immunological features. (Pubmed Central) - Mar 23, 2021
Symptoms' distribution supports specific clinical phenotypes without overlap between LE and MoS. The distinct immunogenetic characteristics shared by all patients with LE and the particular oncological and autoimmune associations of MoS suggest two very different aetiopathogenesis.
- |||||||||| amoxicillin / Generic mfg.
Clinical, Journal: Case 292. (Pubmed Central) - Mar 23, 2021
Her medical history was notable for Raynaud syndrome, recurrent streptococcal pharyngitis, and an allergy to amoxicillin...She received ciprofloxacin for presumed urinary tract infection based on urinalysis, which demonstrated few bacteria and was negative for leukocyte esterase, nitrites, and white blood cells...She denied recent travel. High-spatial-resolution MRI of the brain and orbit were performed (Figs 1, 2).
- |||||||||| Review, Clinical Trial,Phase I, Clinical Trial,Phase II, Journal: Antiganglioside antibodies in neurological diseases. (Pubmed Central) - Mar 20, 2021
Gangliosides are essential for proper cell signaling, transduction and influences neuroplasticity, all of which are affected by autoimmune mediated damage. Better insight into the pathophysiological role of antiganglioside antibodies in different neurological diseases may improve their utility as diagnostic and prognostic biomarkers.
- |||||||||| Botox (onabotulinumtoxin A) / GSK, AbbVie
Journal: Occipitalis muscle: using for repetitive facial nerve stimulation in myasthenia gravis. (Pubmed Central) - Mar 19, 2021
In conclusion, we suggest that facial RNS recording over occipitalis muscle can be added in electrodiagnosis of MG because of cranial nerve innervation and proximal location. Facial RNS recording over occipitalis muscle provides a good choice under the conditions such as atrophy, cosmetic surgery, or botulinum toxin application in which nasalis muscle is unavailable for use.
- |||||||||| Clinical, Journal: Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features. (Pubmed Central) - Mar 19, 2021
We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with PLEC mutations and the role of plectin in the neuromuscular junction.
- |||||||||| Biomarker, Review, Journal, Tumor Mutational Burden, PD(L)-1 Biomarker, IO biomarker: Molecular pathology of thymomas: implications for diagnosis and therapy. (Pubmed Central) - Mar 19, 2021
No molecular biomarkers have been identified that predict the response of unresectable thymomas to chemotherapy or agents with known molecular targets. Despite the common and strong expression of PDL1 in thymomas, immune checkpoint inhibitors are rarely applicable due to the poor predictability of common, life-threatening autoimmune side effects that are related to the unrivaled propensity of thymomas towards autoimmunity.
- |||||||||| Journal, Heterogeneity: Depression in myasthenia gravis: a heterogeneous and intriguing entity. (Pubmed Central) - Mar 18, 2021
Depression and fatigue are highly prevalent and largely overlapping comorbidities in MG, but only fatigue increased with disease severity, and only depression was milder in thymectomized patients. Comparative use of BDI subscales in MG reveals distinct depression phenotypes with distinct correlations to other disease features.
- |||||||||| nipocalimab (M281) / J&J
[VIRTUAL] Vivacity-MG: A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Nipocalimab Administered to Adults with Generalized Myasthenia Gravis () - Mar 18, 2021 - Abstract #AAN2021AAN_3316;
The incidence of infections and headaches with nipocalimab were comparable to placebo._x000D_Nipocalimab achieved substantial and rapid reductions in serum total IgG and anti-AChR IgG autoantibodies which were correlated statistically significantly with MG-ADL improvement (P<0.0001)._x000D_Treatment with nipocalimab resulted in a robust and significantly greater mean improvement from baseline in MG-ADL scores across all continuous dosing arms vs. placebo at the end of the treatment period._x000D_A greater proportion of patients treated with nipocalimab exhibited rapid improvement (within two weeks of treatment) in MG-ADL across all 4 dosing arms vs. placebo._x000D_ 51.9% of patients who received nipocalimab (all doses) reported a durable MG-ADL response vs. 15.4% of those who received placebo (P=0.017). Conclusions : Nipocalimab was well-tolerated, safe, and efficacious in patients with gMG.
- |||||||||| Rituxan (rituximab) / Biogen, Zenyaku Kogyo, Roche
[VIRTUAL] Long-term remission with rituximab in refractory generalized myasthenia gravis () - Mar 18, 2021 - Abstract #AAN2021AAN_2585;
In our series, high doses of RTX induction or regular maintenance were not required to achieve undetectable CD20, attain remission or achieve minimal basal immunosuppressive treatment. Early initiation of RTX in selected patients could be associated with a more rapid and sustained clinical response over time.
- |||||||||| [VIRTUAL] C8 - Neuromuscular Junction Disorders () - Mar 18, 2021 - Abstract #AAN2021AAN_2244;
Description: Faculty will review the clinical presentation of autoimmune myasthenia gravis, discuss the differential diagnosis, antibody and electrodiagnostic testing of autoimmune MG. Faculty will also review the evidence behind current standard of autoimmune MG care, discuss promising therapies in MG and developing treatment algorithms integrating conventional and emerging therapies.
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