Publications by authors named "B Kierdaszuk"
Article Synopsis
- Late-onset Pompe Disease (LOPD) is a rare genetic disorder caused by a deficiency in an enzyme, leading to muscle damage and glycogen accumulation in cells.
- This study used advanced techniques like single nuclei RNA sequencing to explore gene expression changes in muscle biopsies from LOPD patients compared to healthy controls, revealing significant metabolic shifts and inflammatory responses in affected fibers.
- Findings suggest potential benefits of enzyme replacement therapy in restoring metabolic function, especially in healthy muscle fibers, emphasizing the importance of using modern methods to understand muscle disease at a cellular level.
Background: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far.
Methods: We collected muscle MRIs of 80 of the 255 patients who participated in the "VCP International Study" and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences.
Article Synopsis
- The EUROMAC registry was created to collect data on rare muscle glycogenosis, including GSD5, to aid research and improve understanding of these conditions across Europe and the US.
- A study involving 282 participants revealed that most of them are socially active, with many finding dietary changes helpful; however, they experience significant fatigue and physical limitations.
- Findings suggest that while disabled in some ways, participants maintain a good level of social engagement and that specific diets and regular exercise could help manage symptoms.*
This short overview recalls the basic principles and technical aspects of skin and skeletal muscle biopsies in humans with paying special attention to the stages of these procedures essential for further correct morphological diagnosis. Some of these principles may also be useful in animal experimental studies. The authors emphasize the important role of proper thickness of the skin fragment, proper orientation of muscle fibres and a scalpel during skin biopsy, and proper concentration of fixatives.
View Article and Find Full Text PDF