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1.
Cureus ; 15(7): e42563, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37637610

RESUMO

OBJECTIVES: The purpose of this investigation was to evaluate the effects of the COVID-19 pandemic on the respiratory syncytial virus (RSV) prevention program at our institution across three time frames: 2019-2020, 2020-2021, and 2021-2022. METHODS: We carried out a descriptive, single-site observational study spanning four years, from June 2019 to June 2022. Our study included patients in our institution's RSV program who met our enrollment criteria. We collected information about the number of children receiving immunoprophylaxis, immunoprophylaxis doses, and RSV risk factors. RESULTS: The number of patients receiving immunoprophylaxis dropped across the three periods, from 315 patients in the first period (2019-2020) to 176 in the second period (2020-2021), and further decreased to 128 in the third period (2021-2022). Following the COVID-19 pandemic, there was a 50% reduction in the number of patients receiving immunoprophylaxis. The proportion of RSV-infected patients remained relatively similar in the first and second periods (2.86% and 2.27%, respectively) but increased in the third period (5.47%). In the first period, most patients (60.32%) received seven doses, 11.75% got four to six doses, and 27.95% received three doses or fewer. The second period saw 59.66% of patients receiving four to six doses and 40.34% receiving three doses or fewer. In the third period, a mere 9.38% received four to five doses, while 90.63% got three doses or fewer. CONCLUSIONS: While preventative measures associated with COVID-19 may have helped reduce the number of RSV cases, the pandemic seems to have caused a significant decrease in the number of children receiving immunoprophylaxis and the doses of immunoprophylaxis. More extensive, multicenter research is needed to understand the impact of the COVID-19 pandemic on RSV immunoprophylaxis, its activity, and seasonal patterns fully.

2.
Hum Genet ; 139(10): 1273-1283, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32367404

RESUMO

Unlike disorders of primary cilium, primary ciliary dyskinesia (PCD) has a much narrower clinical spectrum consistent with the limited tissue distribution of motile cilia. Nonetheless, PCD diagnosis can be challenging due to the overlapping features with other disorders and the requirement for sophisticated tests that are only available in specialized centers. We performed exome sequencing on all patients with a clinical suspicion of PCD but for whom no nasal nitric oxide test or ciliary functional assessment could be ordered. Among 81 patients (56 families), in whom PCD was suspected, 68% had pathogenic or likely pathogenic variants in established PCD-related genes that fully explain the phenotype (20 variants in 11 genes). The major clinical presentations were sinopulmonary infections (SPI) (n = 58), neonatal respiratory distress (NRD) (n = 2), laterality defect (LD) (n = 6), and combined LD/SPI (n = 15). Biallelic likely deleterious variants were also encountered in AKNA and GOLGA3, which we propose as novel candidates in a lung phenotype that overlaps clinically with PCD. We also encountered a PCD phenocopy caused by a pathogenic variant in ITCH, and a pathogenic variant in CEP164 causing Bardet-Biedl syndrome and PCD presentation as a very rare example of the dual presentation of these two disorders of the primary and motile cilia. Exome sequencing is a powerful tool that can help "democratize" the diagnosis of PCD, which is currently limited to highly specialized centers.


Assuntos
Cílios/metabolismo , Transtornos da Motilidade Ciliar/genética , Predisposição Genética para Doença , Pneumonia/genética , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Sinusite/genética , Autoantígenos/genética , Cílios/patologia , Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/patologia , Consanguinidade , Proteínas de Ligação a DNA/genética , Feminino , Expressão Gênica , Proteínas da Matriz do Complexo de Golgi/genética , Humanos , Masculino , Proteínas dos Microtúbulos/genética , Mutação , Proteínas Nucleares/genética , Linhagem , Fenótipo , Pneumonia/complicações , Pneumonia/diagnóstico , Pneumonia/patologia , Proteínas Repressoras/genética , Síndrome do Desconforto Respiratório do Recém-Nascido/complicações , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Mucosa Respiratória/metabolismo , Mucosa Respiratória/patologia , Arábia Saudita , Sinusite/complicações , Sinusite/diagnóstico , Sinusite/patologia , Fatores de Transcrição/genética , Ubiquitina-Proteína Ligases/genética , Sequenciamento do Exoma
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