- |||||||||| Journal: Blood-brain barrier breakdown and autoimmune cerebellar ataxia (Pubmed Central) - Mar 26, 2024
Next, the pathomechanism of BBB breakdown in each subtype of autoimmune cerebellar ataxia is discussed. We recently identified glucose-regulated protein (GRP) 78 antibodies in paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome, and GRP78 antibodies induced by cross-reactivity with tumors can disrupt the BBB and penetrate anti-P/Q type voltage-gated calcium channel (VGCC) antibodies into the cerebellum, thus leading to cerebellar ataxia in this disease.
- |||||||||| Preclinical, Review, Journal: A comprehensive review on the importance of miRNA-206 in animal model and human diseases. (Pubmed Central) - Mar 26, 2024
In neuropsychiatric disorders such as depression, miR-206 also plays an important role in the progression of the disease, the level of miR-206 is most highly expressed in the brains of patients with depression. In the current review, we summarize the role of miR-206 in various diseases, and miR-206 may be developed as new biomarkers for diagnosing diseases in the near future.
- |||||||||| Rituxan (rituximab) / Roche
About a case : ABBA disease in a patient with thymoma (virtual) - Mar 23, 2024 - Abstract #ERAEDTA2024ERA_EDTA_540; It's caused by autoantibodies directed against the proximal tubular brush border, leading to a progressive decline in kidney function. The largest recently published cohort includes 67 patients.
- |||||||||| Rituxan (rituximab) / Roche
Minimal Changes Disease and Myasthenia Gravis: A Logical Association (virtual) - Mar 23, 2024 - Abstract #ERAEDTA2024ERA_EDTA_533; The identification of this relation can be advantageous making possible early rituximab use, that has been showing good results in both pathologies. In this particular clinical case, there was a recurrence with rituximab when we tapered the PDN, so the patient started MMF with good response and allowing lower PDN doses.
- |||||||||| Journal: Tubular aggregate myopathy causing progressive fatiguable weakness. (Pubmed Central) - Mar 21, 2024
We describe a patient with tubular aggregate myopathy who presented with fatiguable weakness improving with pyridostigmine, respiratory involvement and possible cardiac manifestations. We highlight the utility of muscle biopsy in atypical myasthenic syndrome.
- |||||||||| Journal: Anti-titin antibodies in a cohort of myasthenia gravis patients. (Pubmed Central) - Mar 20, 2024
The presence of anti-titin antibodies appears to correlate with underlying thymoma in early-onset MG cases and with generalized MG in late-onset cases. Prospective studies are needed to further study this association.
- |||||||||| Journal: Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes. (Pubmed Central) - Mar 18, 2024
It includes numerous subtypes of genetic disorders, including congenital muscular dystrophies, congenital myopathies, congenital myasthenic syndromes, spinal muscular atrophy, single-gene genetic syndromes, and inborn errors of metabolism. We outline our clinical approach leading to the diagnosis of a distinctive genetic neuromuscular condition essential for neurologists and geneticists working with patients of all ages to recognize.
- |||||||||| Journal: Dysphagia in patients with sickle cell disease: An understudied problem. (Pubmed Central) - Mar 18, 2024
Strokes are a potentially devastating complication of sickle cell disease (SCD), the most common genetic hemoglobinopathy worldwide, yet little is known about dysphagia as it relates to SCD. Thus, the purposes of this article are to review briefly the primary causes and health consequences of dysphagia, to highlight the relevance of dysphagia to SCD, to review what little is known about dysphagia in SCD, to recommend, based on our consensus and the available literature, when to screen, evaluate, and monitor dysphagia in patients with SCD, and to outline unanswered questions where research on dysphagia in SCD might improve health outcomes.
- |||||||||| Journal: COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum. (Pubmed Central) - Mar 17, 2024
Trial completion date: Nov 2024 --> Dec 2029 | Trial primary completion date: Nov 2024 --> Dec 2029 Despite the rarity of the disease, our findings provide valuable information for understanding the clinical and electrophysiological features as well as the genetic characterization and response to the treatment of COLQ-CMS.
- |||||||||| CARE OF PATIENTS WITH VITAMIN D DEFICIENCY AND MYASTHENIA GRAVIS () - Mar 17, 2024 - Abstract #ICEEDEC2024ICE_EDEC_862;
Despite the rarity of the disease, our findings provide valuable information for understanding the clinical and electrophysiological features as well as the genetic characterization and response to the treatment of COLQ-CMS. The Endocrine nurse plays a crucial role in the multidisciplinary team, and should have good understanding the complexity of this neuromuscular disorder and bone health so as to provide best care for the patient to improve patient's quality of life.
- |||||||||| Actemra IV (tocilizumab) / Roche, JW Pharma
TOCILIZUMAB FOR "LONG" THYROID EYE DISEASE () - Mar 17, 2024 - Abstract #ICEEDEC2024ICE_EDEC_658; This work was supported by the Ministry of Health of the Czech Republic - Conceptual development of research organization (FNOL, 00098892) and grant no. NU21J-01-00017.
- |||||||||| Ultomiris (ravulizumab-cwvz) / AstraZeneca
New trial: Study of Ultomiris (clinicaltrials.gov) - Mar 15, 2024 P=N/A, N=300, Not yet recruiting,
- |||||||||| Clinical, Retrospective data, Review, Journal: A case of IgG4-related ophthalmic disease after SARS-CoV-2 vaccination: case report and literature review. (Pubmed Central) - Mar 12, 2024
We believe that IgG4-ROD and SARS-CoV-2 infection or vaccination are closely related, and the immune system disorder caused by SARS-CoV-2 infection or vaccination may be a key factor in the pathogenesis of IgG4-RD. But for now, there is no direct evidence that there is a causal relationship between SARS-CoV-2 infection or vaccination and IgG4-ROD, which still needs more research and exploration to confirm.
- |||||||||| Journal: Identifying patients at risk for myasthenic crisis with hemogram and inflammation-related laboratory parameters - a pilot study. (Pubmed Central) - Mar 12, 2024
Both regression models showed that higher counts of basophils (per 0.01 unit increase: HR?=?1.32, 95% CI?=?1.02-1.70), neutrophils (per 1 unit increase: HR?=?1.40, 95% CI?=?1.14-1.72), potentially leukocytes (per 1 unit increase: HR?=?1.15, 95% CI?=?0.99-1.34), and platelets (per 100?units increase: HR?=?1.54, 95% CI?=?0.99-2.38) may indicate increased risk for a myasthenic crisis. This pilot study provides proof of the concept that increased counts of basophils, neutrophils, leukocytes, and platelets may be associated with a higher risk of developing MC in patients with MG.
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