Publications by authors named "J Y Noury"
Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.
Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.
Article Synopsis
- Late onset Pompe disease (LOPD) is a rare disorder that affects muscle function due to a lack of a specific enzyme, leading to issues such as macroglossia (enlarged tongue) and swallowing difficulties in patients.
- A study of 100 adult LOPD patients revealed that 32% experienced some level of swallowing difficulties, with 20% dealing with daily dysphagia and 18% facing aspiration risks, yet only a small number were receiving help from speech therapists.
- The findings suggest that common swallowing problems significantly affect patients' daily lives, highlighting the need for healthcare professionals to be more aware of these symptoms and to provide coordinated care involving specialists like speech therapists and dietitians.
Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand how myotonia affects patients' lives, the IMPACT survey, an online questionnaire on patient-reported outcomes, was developed based on international IMPACT questionnaire.
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- The study analyzed 166 patients with acute neurological symptoms linked to anti-GQ1b antibodies, revealing frequent symptoms like areflexia, sensory issues, and muscle weakness.
- The majority of patients were treated with intravenous immunoglobulins, leading to complete neurological recovery for 69% at the one-year mark, although 15% experienced relapses.
- Key predictors for incomplete recovery included age over 70, initial ICU admission, and absence of anti-GQ1b antibodies; no predictors for relapse were identified.