Publications by authors named "V Gagne-Ouellet"
Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1.
Comput Struct Biotechnol J
December 2024
Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant genetic disorder. Although DM1 is primarily characterized by progressive muscular weakness, it exhibits many multisystemic manifestations, such as cognitive deficits, cardiac conduction abnormalities, and cataracts, as well as endocrine and reproductive issues. Additionally, the gastrointestinal (GI) tract is frequently affected, encompassing the entire digestive tract.
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- - The study investigates muscle strength, mobility, and fatigue in adults with oculopharyngeal muscular dystrophy (OPMD) to better understand their physical limitations compared to standardized reference values and different age groups.
- - Thirty-four participants were evaluated on various functional measures, revealing that older adults showed significantly lower muscle strength and mobility abilities, often below 80% of expected norms.
- - Findings indicate strong relationships between muscle strength, mobility capacities, and fatigue levels, emphasizing the critical need for improved clinical strategies and ongoing monitoring of disease progression in OPMD patients.
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset cerebellar ataxia with often presence of peripheral sensorimotor neuropathy and lower limb spasticity. Recently, the presence of pain has been associated with ARSACS in a quarter of the population in relation to spasms and neuropathic pain. However, limited therapeutic options available to patients and the occurrence of persistent symptoms despite treatment with the usual pharmacologic agents have led to exploring cannabis as a potential alternative.
View Article and Find Full Text PDFThe treatment of myotonic dystrophy type 1 (DM1) focuses on reducing symptom burden. However, since medication often fails to produce satisfying symptom relief, some patients seek alternatives, such as cannabis, to help reduce some of these symptoms. The aim of this study was to provide an accurate profile of cannabis use among DM1 patients.
View Article and Find Full Text PDFThe aim of this study was to identify placental DNA methylation (DNAm) variations associated with adiposity at 3 years of age. We quantified placental DNAm using the Infinium MethylationEPIC BeadChips. We assessed associations between DNAm at single-CpGs and skinfold thickness using robust linear regression models adjusted for gestational age, child's sex, age at follow-up and cellular heterogeneity.
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