Publications by authors named "D Hamroun"
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.
Article Synopsis
- In chronic myeloid leukemia, predicting stable treatment-free remission (TFR) after stopping tyrosine kinase inhibitors (TKIs) is difficult, especially using early molecular indicators.
- A study involving 408 patients compared various predictive tools, including the EUTOS long-term survival score, BCR::ABL1 transcript halving time, and residual disease measurements at months 3 and 6.
- While months 3 and 6 residual disease showed good predictive performance, particularly month 6, no early indicators effectively forecasted the TKI discontinuation criteria or TFR maintenance, indicating additional factors may be at play.
Background: The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness.
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- The French Pompe Disease Registry was established in 2004 to track the progress of the disease in patients and evaluate the long-term effects of enzyme replacement therapy (ERT) with alglucosidase-alfa.
- An update on 210 patients from the registry reveals that the median age of participants was almost 49, with many initially presenting symptoms like muscle weakness and respiratory issues, affecting their mobility significantly.
- The findings indicate that awareness among doctors has improved, leading to earlier diagnoses and a decrease in the severity of cases at the time of inclusion, highlighting the registry's role in understanding and managing Pompe disease effectively.