Publications by authors named "M Chouchane"
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Orphanet J Rare Dis
September 2024
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
- Spinal muscular atrophy (SMA) is a genetic disorder leading to muscle atrophy due to a mutation in the SMN1 gene, and this study followed children treated with nusinersen over 36 months to assess their progress.
- 93% of the patients improved their motor skills, with those having three copies of the SMN2 gene achieving significant milestones like standing and walking, while none with two copies could.
- The findings suggest that nusinersen is effective in promoting motor development in SMA, especially for children with three SMN2 copies, who also face fewer complications compared to those with two copies.
Article Synopsis
- In utero exposure to maternal antibodies against fetal acetylcholine receptors can cause severe conditions like arthrogryposis multiplex congenita (AMC) and the milder fetal acetylcholine receptor inactivation syndrome (FARIS), but the full impact remains unclear.
- A study of 46 cases reveals that many affected mothers did not have prior diagnoses of myasthenia gravis, suggesting underreporting and missed preventative measures.
- Among the findings, significant long-term effects in surviving infants included various physical weaknesses, respiratory issues, and unexpected conditions like hearing loss; treatment with oral salbutamol showed promising improvement in symptoms for many children.
X-ray computed tomography (CT) is a non-destructive imaging technique in which contrast originates from the materials' absorption coefficient. The recent development of laboratory nanoscale CT (nano-CT) systems has pushed the spatial resolution for battery material imaging to voxel sizes of 50 nm, a limit previously achievable only with synchrotron facilities. Given the non-destructive nature of CT, in situ and operando studies have emerged as powerful methods to quantify morphological parameters, such as tortuosity factor, porosity, surface area and volume expansion, during battery operation or cycling.
View Article and Find Full Text PDFThe Therapeutic Drug Monitoring guidelines of Arbeitsgemeinschaft für Neuropsychopharmakologie und Pharmakopsychiatrie had proposed a therapeutic reference range of 10-40 mg/L for levetiracetam in 2011. In the first version of the 2017 update, it was changed to 20-40 mg/L; however, 5 months later, in an erratum version, it was changed back to 10-40 mg/L. In this study, the authors agree with the range to 10-40 mg/L but discuss to what extent a wider interval may be proposed for certain patients.
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