Publications by authors named "Lola E R Lessard"
Article Synopsis
- The study assessed the link between inherited mitochondrial dysfunction and neuromuscular junction (NMJ) remodeling in patients with mitochondrial disorders, analyzing muscle biopsies from 15 patients and 10 controls.
- Results showed that patients with mitochondrial disorders had significantly more remodeled and neoformed NMJ endplates, with a trend towards increased Schwann cell extensions, indicating NMJ alterations even without muscle weakness.
- The findings suggest that mitochondrial disorders may lead to NMJ remodeling as a primary issue, separate from structural muscle damage, though the exact mechanisms and clinical indicators warrant further investigation.
Idiopathic inflammatory myopathies (IIM) are rare, acquired muscle diseases; their diagnosis of is based on clinical, serological, and histological criteria. MHC-I-positive immunostaining, although non-specific, is used as a marker for IIM diagnosis; however, the significance of major histocompatibility complex (MHC)-II immunostaining in IIM remains debated. We investigated patterns of MHC-II immunostaining in myofibers and capillaries in muscle biopsies from 103 patients with dermatomyositis ([DM], n = 31), inclusion body myositis ([IBM], n = 24), anti-synthetase syndrome ([ASyS], n = 10), immune-mediated necrotizing myopathy ([IMNM], n = 18), or overlap myositis ([OM], n = 20).
View Article and Find Full Text PDFTAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a G376V-TDP-43 missense variant in the C-terminal prion-like domain of the protein in two French families affected by an autosomal dominant myopathy but not fulfilling diagnostic criteria for ALS. Patients from both families presented with progressive weakness and atrophy of distal muscles, starting in their fifth to seventh decade.
View Article and Find Full Text PDFObjectives: Inaugural axial muscle involvement, defined as dropped head syndrome (DHS) and/or camptocormia (CC), is poorly described in inflammatory myopathies (IM). This study aimed to further characterize IM patients with inaugural DHS/CC, their outcome and care management.
Methods: This retrospective study included IM patients diagnosed between 2000 and 2021.
Article Synopsis
- Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme lysosomal acid alpha-glucosidase, and enzyme replacement therapy (ERT) is the only treatment available to manage this condition.
- This study focused on managing infusion-associated reactions (IAR) in late-onset Pompe disease patients in France, analyzing data from 115 patients treated between 2006 and 2020, where 15 experienced at least one hypersensitivity reaction.
- The findings indicate that ERT can be safely reintroduced using premedication, modified regimens, or desensitization protocols, even in patients with severe reactions or high antibody levels.
Article Synopsis
- The study aims to better understand idiopathic eosinophilic myositis (IEM) and eosinophilic fascitis (EF) by analyzing patient cases to categorize different forms of muscle inflammation.
- Researchers included 20 IEM and 10 EF patients, revealing four distinct subgroups based on clinical symptoms, age, and inflammatory characteristics.
- Findings suggest a need for specialized diagnostic and treatment strategies to effectively manage the varying forms of myositis and fascitis identified in these patients.