RESUMEN
Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.
Asunto(s)
Factores de Intercambio de Guanina Nucleótido , Enanismo , Cara/anomalías , Estudios de Asociación Genética , Enfermedades Genéticas Ligadas al Cromosoma X , Genitales Masculinos/anomalías , Factores de Intercambio de Guanina Nucleótido/genética , Deformidades Congénitas de la Mano , Cardiopatías Congénitas , Humanos , Masculino , Mutación , PrevalenciaRESUMEN
INTRODUCTION: Childhood vaccination rates have decreased significantly during the COVID-19 pandemic. The Brazilian immunization program, Programa Nacional de Imunização (PNI), is a model effort, achieving immunization rates comparable to high-income countries. This study aimed to evaluate the impact of the COVID-19 pandemic in pediatric vaccinations administered by the PNI, as a proxy of adherence to vaccinations during 2020. METHODS: Data on the number of vaccines administered to children under 10 years of age nationally and in each of Brazil's five regions were extracted from Brazil's federal health delivery database. Population adjusted monthly vaccination rates from 2015 through 2019 were determined, and autoregressive integrated moving average (ARIMA) models were used to forecast expected vaccinated rates in 2020. We compared the forecasts to reported vaccine administrations to assess adequacy of pediatric vaccine delivery during the COVID-19 pandemic. RESULTS: From January 2015 to February 2020, the average rate of vaccine administration to children was 53.4 per 100,000. After February 2020, this rate decreased to 50.4, a 9.4% drop compared to 2019 and fell outside of forecasted ranges in December 2020. In Brazil's poorest region, the North, vaccine delivery fell outside of the forecasted ranges earlier in 2020 but subsequently rebounded, meeting expected targets by the end of 2020. However, in Brazil's wealthiest South and Southeast regions, initial vaccine delivery fell and remained well below forecasted rates through the end of 2020. CONCLUSION: In Brazil, despite a model national pediatric vaccination program with an over 95% national coverage, vaccination rates decreased during the COVID-19 pandemic. Coordinated governmental efforts have ameliorated some of the decrease, but more efforts are needed to ensure continued protection from preventable communicable diseases for children globally.