Publications by authors named "A Codina"
Article Synopsis
- The study investigates the link between metabolic dysfunction-associated steatotic liver disease (MASLD) and immune-mediated inflammatory diseases (IMIDs), finding a higher prevalence of advanced liver disease in IMID patients compared to a matched control group.
- Utilizing a case-control design, the research analyzed liver biopsy data and RNA sequencing from patients to identify significant differences in gene expression related to liver disease between IMID and control groups.
- Results indicate that IMIDs not only increase the risk of advanced steatotic liver disease but also suggest a unique pathway for MASLD development in these patients, separate from traditional metabolic factors.
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.*
Introduction: Recent data are not available on ongoing CPR for emergency services with an onboard physician. The aim of the present study was to identify factors associated with the decision to transport patients to hospital with ongoing CPR and examine their survival to hospital discharge with good neurological status.
Methods: An observational study based on a registry of out-of-hospital cardiac arrests attended to by emergency services with an onboard physician.
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-driven analysis of the genomic data, that led to the molecular diagnosis in a child with CM. We identified a heterozygous variant in RYR1 in the affected child, inherited from her asymptomatic mother.
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