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1.
Cureus ; 15(7): e42563, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37637610

ABSTRACT

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.
Article in English | MEDLINE | ID: mdl-32367404

ABSTRACT

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.


Subject(s)
Cilia/metabolism , Ciliary Motility Disorders/genetics , Genetic Predisposition to Disease , Pneumonia/genetics , Respiratory Distress Syndrome, Newborn/genetics , Sinusitis/genetics , Autoantigens/genetics , Cilia/pathology , Ciliary Motility Disorders/complications , Ciliary Motility Disorders/diagnosis , Ciliary Motility Disorders/pathology , Consanguinity , DNA-Binding Proteins/genetics , Female , Gene Expression , Golgi Matrix Proteins/genetics , Humans , Male , Microtubule Proteins/genetics , Mutation , Nuclear Proteins/genetics , Pedigree , Phenotype , Pneumonia/complications , Pneumonia/diagnosis , Pneumonia/pathology , Repressor Proteins/genetics , Respiratory Distress Syndrome, Newborn/complications , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/pathology , Respiratory Mucosa/metabolism , Respiratory Mucosa/pathology , Saudi Arabia , Sinusitis/complications , Sinusitis/diagnosis , Sinusitis/pathology , Transcription Factors/genetics , Ubiquitin-Protein Ligases/genetics , Exome Sequencing
3.
Can Respir J ; 22(5): 261-2, 2015.
Article in English | MEDLINE | ID: mdl-26151835

ABSTRACT

Sand aspiration is a rare but potentially fatal occurrence to consider in near-drownings, accidental burials or cave-ins. Optimal management is not well defined.


Subject(s)
Bronchoalveolar Lavage/methods , Bronchoscopy , Extracorporeal Membrane Oxygenation , Respiratory Aspiration/therapy , Silicon Dioxide/adverse effects , Child , Humans , Male , Respiratory Aspiration/diagnosis , Respiratory Aspiration/etiology
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