- |||||||||| Clinical, Journal: Assessment of clinical factors affecting outcome of myasthenia gravis. (Pubmed Central) - Sep 10, 2021
Thus, CYP3A5*3 polymorphism and age should be considered in optimizing the initial dose of tacrolimus for MG treatment. These findings suggest that dysphagia and hypoalbuminemia at baseline are associated with outcomes and are predictive risk factors for poorer outcomes in patients with MG.
- |||||||||| Dysphagia Refractory to Pharmacotherapy in a Myasthenic Patient (Shoreline Exhibit Hall) - Sep 8, 2021 - Abstract #ACG2021ACG_2585;
EGD revealed impaired LES relaxation (Image B) with EndoFlip (Image C) showing a lack of LES distensibility and impaired LES relaxation. Esoflip dilation (Image D) with post dilation view of the LES (Image E).
- |||||||||| carboplatin / Generic mfg., methotrexate / Generic mfg., pemetrexed / Generic mfg.
It’s Not the Liver: Malignant Peritoneal Mesothelioma Presenting With High Protein, High Serum-Ascites Albumin Gradient (Shoreline Exhibit Hall) - Sep 8, 2021 - Abstract #ACG2021ACG_1713;
Case Description/ A 69 year old male with history of myasthenia gravis on methotrexate (MTX), rheumatic fever and distant Hodgkin’s lymphoma status-post orchiectomy in remission, presented with 2 months of abdominal swelling with early satiety...Indwelling peritoneal catheter was placed for palliative chemotherapy with carboplatin and pemetrexed...We recommend broad, cross-sectional imaging and cytology early on in unexplained ascites as well as early discovery of occupational exposures. This case illustrates the importance of a high clinical index of suspicion for mesothelioma given its variety of clinical presentations.
- |||||||||| Rituxan (rituximab) / Biogen, Zenyaku Kogyo, Roche
Malignant Rectal Ulcer: An Atypical Presentation of an Omnipresent Virus (Shoreline Exhibit Hall) - Sep 8, 2021 - Abstract #ACG2021ACG_1107;
Retroflexed view of ulcerative lesion located at the anal verge.Figure 2. Axial and coronal PET images demonstrating increased focal metabolic activity in the anorectum.
- |||||||||| prednisone / Generic mfg., mycophenolate mofetil / Generic mfg., warfarin / Generic mfg.
A Case of Medication-Induced Black Esophagus (Shoreline Exhibit Hall) - Sep 8, 2021 - Abstract #ACG2021ACG_276;
His history of MG requiring him to take the AEN-associated medication, Cellcept, likely predisposed him to develop toxic injury, leading to the second hit. Due to poor prognosis after declining esophagectomy, the patient was transitioned to comfort care and passed away shortly thereafter.Figure: Figure 1: Patchy discoloration of the distal esophagus representing ischemia.
- |||||||||| batoclimab (IMVT-1401) / Roivant
Trial completion: A Study to Evaluate the Efficacy, Safety and PD and PK of HBM9161 in MG Patients (clinicaltrials.gov) - Sep 8, 2021
P2, N=30, Completed,
Due to poor prognosis after declining esophagectomy, the patient was transitioned to comfort care and passed away shortly thereafter.Figure: Figure 1: Patchy discoloration of the distal esophagus representing ischemia. Active, not recruiting --> Completed
- |||||||||| Journal: Dominant and Recessive Congenital Myasthenic Syndromes Caused by SYT2 Mutations. (Pubmed Central) - Sep 8, 2021
The recessive form of CMS caused by a SYT2 mutation showed far more severe clinical manifestations than the dominant form. The pathogenesis of the dominant form likely involves a dominant-negative effect due to disruption of the dual function of synaptotagmin as a Ca -sensor and modulator of synaptic vesicle exocytosis.
- |||||||||| Journal: Myasthenia gravis during pregnancy: what care should be taken? (Pubmed Central) - Sep 8, 2021
Children born to myasthenic mothers are at risk of having transient neonatal myasthenia. We briefly review the main relationships between MG and pregnancy, and we make recommendations for MG therapy, pregnancy, delivery, breastfeeding and newborns.
- |||||||||| Journal: Non-invasive ventilation of the lungs in neuromuscular diseases (Pubmed Central) - Sep 7, 2021
We briefly review the main relationships between MG and pregnancy, and we make recommendations for MG therapy, pregnancy, delivery, breastfeeding and newborns. The use of NIVL helps to reduce the risk and frequency of respiratory complications, the number and duration of hospitalizations that significantly affects the prognosis and course of NMD as well as improves the quality of life and the level of adaptation of patients.
- |||||||||| Journal: Pneumocystis jirovecii Pneumonia in Neurologic Disorders: Is Prophylaxis Necessary? (Pubmed Central) - Sep 7, 2021
The overall incidence of PJP in patients with non-neoplastic neurologic disorders is exceedingly low, raising doubt about the value of routine PJP prophylaxis in neurologic patients outside neuro-oncology. PJP infection occurs frequently in patients with malignancy or parenchymal organ failure, indicating that overall health status may serve as a predisposing factor for PJP.
- |||||||||| Clinical, Review, Journal: Maternal and neonatal outcomes among pregnant women with myasthenia gravis. (Pubmed Central) - Sep 5, 2021
Conclusions MG in pregnancy is a high-risk condition associated with greater risk of maternal respiratory failure and preterm birth. Management in a tertiary care center with obstetrical, neurological, anesthesia and neonatology collaboration is recommended.
- |||||||||| Tepezza (teprotumumab) / Horizon Therapeutics, Roche
Journal: JNO Literature Commentary. (Pubmed Central) - Sep 5, 2021
Bilateral dysthyroid compressive optic neuropathy responsive to teprotumumab...doi: 10.1001/jamaophthalmol.2020.5329. PMID: 33270081; PMCID: PMC7716256.
- |||||||||| Clinical, Journal: Drug exposure associated with exacerbation of symptoms in patients with myasthenia gravis (Pubmed Central) - Sep 4, 2021
Just over half of the patients had at least one exacerbation episode during the study period, most of them were mild. Further studies with larger sample sizes are necessary to corroborate these conclusions and to study possible correlations between the use of drugs and the risk of exacerbation episodes.
- |||||||||| Journal: A multidimensional computational exploration of congenital myasthenic syndrome causing mutations in human choline acetyltransferase. (Pubmed Central) - Sep 4, 2021
Through rigorous multiparameter analyses, we conclude that mutations can affect CHAT through a variety of different mechanisms: by disrupting the secondary structure, by perturbing the P-loop through long-range allosteric interactions, by disrupting the domain connecting loop, and by affecting the phosphorylation process. This study provides the first dynamic look at how mutations affect the structure and catalytic activity in CHAT and highlights the need for further genomic research to better understand the pathology of CHAT.
- |||||||||| Journal: Steroid dependence in acute asthma due to myasthenia gravis. (Pubmed Central) - Sep 3, 2021
This study provides the first dynamic look at how mutations affect the structure and catalytic activity in CHAT and highlights the need for further genomic research to better understand the pathology of CHAT. No abstract available
- |||||||||| Review, Journal, Heterogeneity: Heterogeneous Nuclear Ribonucleoproteins: Implications in Neurological Diseases. (Pubmed Central) - Sep 3, 2021
This review aims to consolidate the evidences for hnRNP involvement in neurological diseases, with a focus on spinal muscular atrophy (SMA), Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), multiple sclerosis (MS), congenital myasthenic syndrome (CMS), and fragile X-associated tremor/ataxia syndrome (FXTAS). Understanding more about hnRNP involvement in neurological diseases can further elucidate the pathomechanisms involved in these diseases and perhaps guide future therapeutic advances.
- |||||||||| Keytruda (pembrolizumab) / Merck (MSD)
Journal: An Unusual Cause for a Bilateral Ptosis (Pubmed Central) - Sep 2, 2021
Here we present the case of a patient under immune checkpoint inhibitor therapy, in which the diagnosis, due to the presence of overlap symptoms, is shown to be challenging. However, it was crucial to find the correct diagnosis in order to choose the proper therapy.
- |||||||||| Journal: Associations between autoimmune diseases and amyotrophic lateral sclerosis: a register-based study. (Pubmed Central) - Sep 2, 2021
First-degree relatives of ALS patients had however no increased risk of autoimmune diseases compared with first-degree relatives of controls. Although it is difficult to completely remove the potential effects of misdiagnosis, there is likely a positive association between autoimmune disease (such as type 1 diabetes and multiple sclerosis) and ALS, which is not fully explained by shared familial confounding factors.
- |||||||||| Biomarker, Journal: Calprotectin as potential novel biomarker in myasthenia gravis. (Pubmed Central) - Aug 31, 2021
Currently, there are no validated blood biomarkers for MG. The significantly elevated CLP and mild correlation with parameters of disease activity suggests that CLP holds promise as a biomarker for measurement of individual disease severity.
- |||||||||| [VIRTUAL] Evaluation of PROX-1 expression in thymic epithelial tumours () - Aug 29, 2021 - Abstract #ECP2021ECP_1204;
The significantly elevated CLP and mild correlation with parameters of disease activity suggests that CLP holds promise as a biomarker for measurement of individual disease severity. PROX-1 is expressed in TETs and its expression levels correlate with the more aggressive tumour subtypes B3 thymoma and thymic carcinoma.
- |||||||||| Review, Journal: Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update. (Pubmed Central) - Aug 28, 2021
Acquired neuromyotonia is a condition characterized by nerve hyperexcitability often due to the presence of antibodies against proteins associated with voltage-gated potassium channels. This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ.
- |||||||||| Journal: Myasthenia Gravis-An Analysis of Multimodal Evoked Potentials. (Pubmed Central) - Aug 28, 2021
This review will focus on the recent developments in the autoimmune presynaptic disorders of the NMJ. The results of the study suggest the presence of disturbances in the bioelectric activities of the central and peripheral nervous system in MG patients.
- |||||||||| Clinical: Thymectomy in Pemphigus Foliaceus: A Thirty-Year Observation. (Pubmed Central) - Aug 27, 2021
Autoimmune mechanisms, age distribution, and response to therapy in autoimmune disorders are likely to be different with thymoma. The concurrence of generalized myasthenia with disfiguring pemphigus foliaceus in one young patient but without thymoma offered a natural experiment to assess immunologic antibody responsiveness postoperatively, and observe more than a quarter of a century of clinical remission of both following total thymectomy surgery.
- |||||||||| carbimazole / Generic mfg., propranolol / Generic mfg.
[VIRTUAL] Thyroid storm and transient bulbar myopathy in a 22-month-old girl with Graves Disease () - Aug 27, 2021 - Abstract #ESPE2021ESPE_577;
Management includes considering the differential Myasthenia Gravis, which can be associated with Graves disease, and treatment of thyrotoxicosis. Consistent with adult literature, where resolution of bulbar myopathy occurred with normalisation of thyroid function from 3 days to 14 weeks, in our case resolution of proximal myopathy took 6 weeks and dysphagia 3.5 months.
- |||||||||| Opdivo (nivolumab) / Ono Pharma, BMS
Clinical, Journal: Nivolumab: An «Immune storm» in a patient with history of myasthenia gravis. (Pubmed Central) - Aug 27, 2021
Consistent with adult literature, where resolution of bulbar myopathy occurred with normalisation of thyroid function from 3 days to 14 weeks, in our case resolution of proximal myopathy took 6 weeks and dysphagia 3.5 months. No abstract available
- |||||||||| Keytruda (pembrolizumab) / Merck (MSD)
Journal, Checkpoint inhibition: Myasthenia gravis induced or exacerbated by immune checkpoint inhibitors: a rising concern. (Pubmed Central) - Aug 25, 2021
With this review, we present 66-year-old man with melanoma treated with pembrolizumab who developed MG...Combination IO therapy-induced MG was reported in seven cases, with at least two cases complicated by respiratory failure and one death. Our observations suggest a possible difference in the severity of the disease and outcome among different IO therapy options.
- |||||||||| Journal: A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. (Pubmed Central) - Aug 25, 2021
This case highlights the clinical overlap between mtDNA-related diseases and other neuromuscular disorders, and demonstrates the potential pitfalls in analysis of next generation sequencing results, given whole exome sequencing of a blood DNA sample failed to make a genetics diagnosis. Muscle biopsy remains an important requirement in the diagnosis of mitochondrial disease and in establishing the pathogenicity of novel mtDNA variants.
- |||||||||| Journal: A new and easily used modified myasthenia gravis score. (Pubmed Central) - Aug 25, 2021
The positive correlation coefficient between the mQMG and QMG score was very strong (r = 0.96, 95% CI, 0.93-0.98, p < 0.001), between the mQMG and MGQOL15-Thai version score was moderate (r = 0.44, 95% CI, 0.17-0.65, p = 0.003), and between the QMG and MGQOL15-Thai version score was moderate (r = 0.41, 95% CI, 0.14-0.63, p = 0.005). We thus conclude that the new mQMG score is practical for use in research and clinical care.
- |||||||||| Clinical, Journal: Literature Commentary. (Pubmed Central) - Aug 21, 2021
JAMA Neurol. 2021;78:718-725.
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