Publications by authors named "R Ortega Polo"
Objectives: To analyze the prognostic value of markers available at the onset of idiopathic facial palsy. To define the evolution of the episode by tracing changes in facial function over time.
Methods: This is an observational prospective study on patients with facial palsy consulting in the first 24 hs.
Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the , , and genes) results in a great variety of phenotypes ranging from non-syndromic hearing impairment (NSHI) to very complex syndromes, with a predominance of neurological signs. The diversity of roles that are played by these moonlighting enzymes and the fact that most pathogenic variants are missense and affect different domains of these proteins in diverse compound heterozygous combinations make it difficult to establish genotype-phenotype correlations. We used a targeted gene-sequencing panel to investigate the presence of pathogenic variants in those four genes in cohorts of 175 Spanish and 18 Colombian familial cases with non-DFNB1 autosomal recessive NSHI.
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- * A systematic review identified 80 relevant studies out of 126 searched, highlighting that the diagnosis of AEV can take an average of 7 years and lesions remain unchanged with standard HIV treatments, making management challenging.
- * Current treatments for AEV, such as glycolic acid and imiquimod, show limited effectiveness, and while the risk of certain skin cancers is lower in A
The number of older people living with HIV (OPLHIV) is increasing worldwide. However, little is known about the factors that better predict their health-related quality of life (HRQoL). We administered the validated WHOQoL-HIV BREF questionnaire to 247 Spanish OPLHIV (192 men and 55 women).
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