Eculizumab for myasthenic exacerbation during treatment with immune-checkpoint inhibitors
DISCUSSION: Eculizumab potentially offers a mechanism-based treatment of MG in patients under anti-programmed cell death protein 1 (PD-1) agents, without interfering with their mechanism of action and avoiding their discontinuation. Larger case series deserve to be evaluated.PMID:38108913 | DOI:10.1007/s10072-023-07190-0 (Source: Cancer Control)
Source: Cancer Control - December 18, 2023 Category: Cancer & Oncology Authors: Laura Fionda Elena Rossini Antonio Lauletta Luca Leonardi Laura Tufano Rocco Costanzo Paolo Marchetti Marco Salvetti Matteo Garibaldi Stefania Morino Giovanni Antonini Source Type: research
Eculizumab for myasthenic exacerbation during treatment with immune-checkpoint inhibitors
DiscussionEculizumab potentially offers a mechanism-based treatment of MG in patients under anti-programmed cell death protein 1 (PD-1) agents, without interfering with their mechanism of action and avoiding their discontinuation. Larger case series deserve to be evaluated. (Source: Neurological Sciences)
Source: Neurological Sciences - December 18, 2023 Category: Neurology Source Type: research
Healthcare resource utilization, costs and treatment associated with myasthenia gravis exacerbations among patients with myasthenia gravis in the USA: a retrospective analysis of claims data
Conclusion: Despite utilization of current treatments for MG, MG exacerbations are associated with a high clinical and economic burden in both commercial and Medicare patients. Additional treatment options and improved disease management may help to reduce exacerbations and disease burden.PMID:38099519 | DOI:10.57264/cer-2023-0108 (Source: Journal of Comparative Effectiveness Research)
Source: Journal of Comparative Effectiveness Research - December 15, 2023 Category: General Medicine Authors: Julia Pisc Angela Ting Michelle Skornicki Omar Sinno Edward Lee Source Type: research
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
We report on a patient with a biallelic variant of the LRP4 gene presenting with a severe and neonatal lethal phenotype; we also provide a literature review of the previously reported patients. A female neonate, born to healthy consanguineous parents, presented with severe hypotonia, congenital diaphragmatic hernia, pulmonary hypertension, and progressive hypoxemia. Two of her siblings presented with a similar condition in the past, and all three died shortly after birth. Clinical exome sequencing revealed homozygosity for the pathogenic variant NM_002334.4:c.3698A > C (p.[Glu1233Ala]).PMID:38101565 | DOI:10.1016/j.ejmg...
Source: European Journal of Medical Genetics - December 15, 2023 Category: Genetics & Stem Cells Authors: Tariq Al Jabry Nadia Al-Hashmi Basem Abdelhadi Almundher Al-Maawali Source Type: research
Healthcare resource utilization, costs and treatment associated with myasthenia gravis exacerbations among patients with myasthenia gravis in the USA: a retrospective analysis of claims data
Conclusion: Despite utilization of current treatments for MG, MG exacerbations are associated with a high clinical and economic burden in both commercial and Medicare patients. Additional treatment options and improved disease management may help to reduce exacerbations and disease burden.PMID:38099519 | DOI:10.57264/cer-2023-0108 (Source: Journal of Comparative Effectiveness Research)
Source: Journal of Comparative Effectiveness Research - December 15, 2023 Category: General Medicine Authors: Julia Pisc Angela Ting Michelle Skornicki Omar Sinno Edward Lee Source Type: research
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
We report on a patient with a biallelic variant of the LRP4 gene presenting with a severe and neonatal lethal phenotype; we also provide a literature review of the previously reported patients. A female neonate, born to healthy consanguineous parents, presented with severe hypotonia, congenital diaphragmatic hernia, pulmonary hypertension, and progressive hypoxemia. Two of her siblings presented with a similar condition in the past, and all three died shortly after birth. Clinical exome sequencing revealed homozygosity for the pathogenic variant NM_002334.4:c.3698A > C (p.[Glu1233Ala]).PMID:38101565 | DOI:10.1016/j.ejmg...
Source: European Journal of Medical Genetics - December 15, 2023 Category: Genetics & Stem Cells Authors: Tariq Al Jabry Nadia Al-Hashmi Basem Abdelhadi Almundher Al-Maawali Source Type: research
Healthcare resource utilization, costs and treatment associated with myasthenia gravis exacerbations among patients with myasthenia gravis in the USA: a retrospective analysis of claims data
Conclusion: Despite utilization of current treatments for MG, MG exacerbations are associated with a high clinical and economic burden in both commercial and Medicare patients. Additional treatment options and improved disease management may help to reduce exacerbations and disease burden.PMID:38099519 | DOI:10.57264/cer-2023-0108 (Source: Journal of Comparative Effectiveness Research)
Source: Journal of Comparative Effectiveness Research - December 15, 2023 Category: General Medicine Authors: Julia Pisc Angela Ting Michelle Skornicki Omar Sinno Edward Lee Source Type: research
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
We report on a patient with a biallelic variant of the LRP4 gene presenting with a severe and neonatal lethal phenotype; we also provide a literature review of the previously reported patients. A female neonate, born to healthy consanguineous parents, presented with severe hypotonia, congenital diaphragmatic hernia, pulmonary hypertension, and progressive hypoxemia. Two of her siblings presented with a similar condition in the past, and all three died shortly after birth. Clinical exome sequencing revealed homozygosity for the pathogenic variant NM_002334.4:c.3698A > C (p.[Glu1233Ala]).PMID:38101565 | DOI:10.1016/j.ejmg...
Source: European Journal of Medical Genetics - December 15, 2023 Category: Genetics & Stem Cells Authors: Tariq Al Jabry Nadia Al-Hashmi Basem Abdelhadi Almundher Al-Maawali Source Type: research
Healthcare resource utilization, costs and treatment associated with myasthenia gravis exacerbations among patients with myasthenia gravis in the USA: a retrospective analysis of claims data
Conclusion: Despite utilization of current treatments for MG, MG exacerbations are associated with a high clinical and economic burden in both commercial and Medicare patients. Additional treatment options and improved disease management may help to reduce exacerbations and disease burden.PMID:38099519 | DOI:10.57264/cer-2023-0108 (Source: Journal of Comparative Effectiveness Research)
Source: Journal of Comparative Effectiveness Research - December 15, 2023 Category: General Medicine Authors: Julia Pisc Angela Ting Michelle Skornicki Omar Sinno Edward Lee Source Type: research
