Publications by authors named "Marie Thibaud"
Article Synopsis
- Spinal muscular atrophy type 1 (SMA1) is a severe genetic disease affecting motor neurons, and onasemnogene abeparvovec gene transfer therapy (GT) has significantly impacted its treatment, although real-world data is limited.
- A study in France identified 95 SMA1 patients between June 2019 and June 2022, focusing on 29 who received GT and had over a year of follow-up.
- Results indicated positive motor development and maintenance of respiratory and feeding functions in treated infants, although many developed spinal deformities, and two patients sadly passed away shortly after treatment.
Article Synopsis
- Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
- A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
- Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.
Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in . Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.
View Article and Find Full Text PDFThe objective of this study was to analyze whether a meta-analysis could allow us to draw useful conclusions about the risk factors for falls in the elderly. A systematic review was carried out of various databases and completed manually. To satisfy the inclusion criteria, an article had to examine a population of subjects aged over 60 years to pertain to falls occurring during daily living activities, and to involve observational or interventional studies.
View Article and Find Full Text PDFBackground: The multifactorial nature of falls is well known, and several studies on falls in the elderly have reported that laxatives can be a risk factor, but without attempting to discuss possible mechanisms to explain this role.
Objective: We aimed to isolate studies in which the risk factors for falls in the elderly related to laxatives have been evaluated and to carry out a meta-analysis combining the results of all identified good-quality studies.
Methods: Systematic literature review using the keywords 'accidental fall/numerical data' and 'risk factors'.
Objective: To carry out meta-analyses on psychotropic drugs and to provide an update of the risk of falling in the elderly people related to psychotropic drugs.
Design: Meta-analyses of studies on psychotropic drugs.
Results: 177 studies are included, of which 71 have data on risk factors associated with psychotropic drugs.
Objectives: To study the effects of physical stimulation based on walking exercises, equilibrium and endurance on cognitive function and walking efficiency in patients with dementia.
Methods: Randomized controlled trial including 31 subjects suffering from dementia (age: 81.8 +/- 5.