Publications by authors named "Jesica Exposito-Escudero"
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder resulting from mutations in the SMN1 gene, with a study aiming to track changes in motor function over 4 years using the Hammersmith Functional Motor Scale Expanded (HFMSE).
- The research involved analyzing data from multiple countries, focusing on factors like age, functional status, and the number of SMN2 gene copies in SMA types II and III.
- Results showed SMA type II patients had a mean decline of -2.20 points, while type III experienced a -2.75 point decline over 4 years, with age and baseline scores being significant predictors of these changes, suggesting the need for detailed assessment in specific SMA subgroups.
Article Synopsis
- A study analyzed 58 individuals with unresolved childhood-onset neuromuscular diseases (NMDs) who previously had inconclusive exome sequencing results, aiming to improve molecular diagnosis.* -
- By using a combination of trio genome sequencing and RNA sequencing, the researchers achieved genetic diagnoses in 40% of the patients, identifying causal variants in most cases.* -
- The findings highlight that integrating detailed patient phenotyping and advanced genomic techniques can enhance diagnostic rates and better manage individuals suffering from NMDs.*
Article Synopsis
- - Three new therapies have improved treatment for spinal muscular atrophy (SMA), but individual responses vary, highlighting the need for biomarkers to better understand this variability
- - Researchers used a sensitive PCR method to measure SMN transcript levels in blood samples from SMA type 2 patients receiving nusinersen treatment over 14 months, also examining neurofilament heavy chain levels
- - Results showed that SMN transcript levels increased after treatment, especially in younger patients, and that neurofilament levels were higher in untreated patients but decreased with nusinersen, suggesting SMN transcript in serum could serve as a useful biomarker for treatment response in SMA
Thymidine kinase (TK2) deficiency causes mitochondrial DNA depletion syndrome. We aimed to report the clinical, biochemical, genetic, histopathological, and ultrastructural features of a cohort of paediatric patients with TK2 deficiency. Mitochondrial DNA was isolated from muscle biopsies to assess depletions and deletions.
View Article and Find Full Text PDFOur objective was to investigate the potential of three microRNAs, miR-181a-5p, miR-30c-5p, and miR-206 as prognostic biomarkers for long-term follow up of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients. We analyzed the expression of three microRNAs in serum of 18 patients (DMD 13, BMD 5) and 13 controls using droplet digital PCR. Over 4 years a minimum of two and a maximum of three measurements were performed at different time points in the same patient.
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