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Carmona, R.

Publications and source records attributed to Carmona, R..

2 recordsLinked to original sources

Anti-inflammatory immunomodulation for the treatment of Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a rare disease where the diaphragm does not develop properly altering lung development with no established therapy. We have analyzed the effect of anti-inflammatory immunomodulators that influence macrophage activation in animal CDH models. In the widely-used nitrofen-induced model of CDH in pregnant rats, administration of a single dose of atypical Toll-like Receptors TLR2/4 dual ligands (CS1 and CS2), 3 days after nitrofen, cured diaphragmatic hernia in 73 % of the fetuses, repaired the lesion with complete diaphragm closure. Moreover, they also improve pulmonary hypoplasia and vessel hypertrophy, enhancing pulmonary maturity of fetuses. CS1 treatment also rescued the CDH phenotype in the G2-GATA4Cre;Wt1fl/fl CDH genetic mice model. Only 1 out 11 mutant embryos showed CDH after CS1 administration, whereas CDH prevalence was 70% in untreated mutant embryos. Mechanistically, CS1 stimulated the infiltration of repairing M2 macrophages (CD206+ and Arg1+) into the damaged diaphragm and reduced T cell infiltration. Alteration in retinoic acid pathways a have been also implicated in the etiology of CDH. TLR2/4 dual ligands also induced retinol pathway genes, including RBP1, RALDH2, RAR and RAR{beta}, in the affected lungs and the diaphragm and in macrophages in vitro. The present results place atypical TLR2/4 ligands as a promising solution for CDH, where the own immune system of the fetus is responsible for repairing the hernia/damage in the diaphragm, ensuring the correct positioning and development of all organs.

immunology↗

SMN1 copy-number and sequence variant analysis from next generation sequencing data

Spinal Muscular Atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2, and the complexity of the SMN locus makes the estimation of the SMN1 copy-number by next generation sequencing (NGS) very difficult Here, we present SMAca, the first python tool to detect SMA carriers and estimate the absolute SMN1 copy-number using NGS data. Moreover, SMAca takes advantage of the knowledge of certain variants specific to SMN1 duplication to also identify silent carriers. This tool has been validated with a cohort of 326 samples from the Navarra 1000 Genomes project (NAGEN1000). SMAca was developed with a focus on execution speed and easy installation. This combination makes it especially suitable to be integrated into production NGS pipelines. Source code and documentation are available on Github at: www.github.com/babelomics/SMAca

bioinformatics↗