Publications by authors named "S Monges"
Article Synopsis
- Dystrophinopathies are neuromuscular disorders caused by changes in the DMD gene and are passed down through X-linked recessive inheritance.
- Advances in technology like next generation sequencing can detect about 99% of these genetic variants, but some cases require deeper analysis, such as mRNA studies from muscle biopsies.
- In a reported case, a child suspected of Duchenne muscular dystrophy had a muscle biopsy indicating dystrophin deficiency despite negative genetic tests; mRNA analysis uncovered a pseudoexon activation due to a novel genetic variant, illustrating the importance of this method in challenging cases.
Objective: FHL1-related reducing body myopathy is an ultra-rare, X-linked dominant myopathy. In this cross-sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1-related reducing body myopathy patients.
Methods: Seventeen patients (11 male, mean age 35.
Background And Objectives: To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome Study.
Methods: Albuminocytologic dissociation (ACD) was defined as an increased protein level (>0.45 g/L) in the absence of elevated white cell count (<50 cells/μL).
Background And Objectives: Infections play a key role in the development of Guillain-Barré syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across geographical regions has been suggested to be related to differences in the distribution of preceding infections, but this has not been studied on a large scale.
Methods: We analyzed the first 1,000 patients included in the International GBS Outcome Study with available biosamples (n = 768) for the presence of a recent infection with , hepatitis E virus, , cytomegalovirus, and Epstein-Barr virus.
Article Synopsis
- Nemaline myopathy (NM) is a muscle disorder characterized by a wide range of clinical severity, largely influenced by specific genetic mutations, with ACTA1 being a key gene linked to severe cases.
- Researchers studied a cohort of ten families with severe NM, finding that affected individuals often faced significant muscle weakness from birth and many did not survive beyond the early months of life; DNA testing revealed mutations in the ACTA1 gene for all cases.
- Muscle biopsy analysis showed distinctive NM histopathology, such as abnormal muscle structure and changes in nuclear organization, which were validated by examining similar cases, suggesting a deeper understanding of the disease's genetic and structural complexities.