Background: Novel coronavirus disease (COVID-19) is spreading globally. Little is known about the risk factors for the clinical outcomes of COVID-19 in children. Methods: A retrospective case-control study was taken in children with severe acute respiratory syndrome coronary virus-2 infection in Wuhan Children’s Hospital. Risk factors associated with the development of COVID-19 and progression were collected and analyzed. Results: Eight of 260 children diagnosed with severe COVID-19 pneumonia were included in the study. Thirty-five children with COVID-19 infection matched for age, sex and date of admission, and who classified as non-severe type, were randomly selected from the hospital admissions. For cases with severe pneumonia caused by COVID-19, the most common symptoms were dyspnea (87.5%), fever (62.5%) and cough (62.5%). In laboratory, white blood cells count was significantly higher in severe children than non-severe children. Levels of inflammation bio-makers such as hsCRP, IL-6, IL-10 and D-dimer elevated in severe children compared with non-severe children on admission. The level of total bilirubin and uric acid clearly elevated in severe children compared with non-severe children on admission. All of severe children displayed the lesions on chest CT, more lung segments were involved in severe children than in non-severe children, which was only risk factor associated with severe COVID-19 pneumonia in multivariable analysis. Conclusions: More than 3 lung segments involved were associated with greater risk of development of severe COVID-19 in children. Moreover, the possible risk of the elevation of IL-6, high total bilirubin and D-dimer with univariable analysis could identify patients to be severe earlier.
Background: The outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is ongoing globally. Limited data are available for children with SARS-CoV-2 infection. Methods: A retrospective case study was conducted in one designated hospital for children with SARS-CoV-2 infection in Wuhan. Results: Out of the 74 children with laboratory-confirmed SARS-CoV-2 infection, the median age was 5.8 years, with no notable variation based on gender. All of the children had had direct exposure to at least one family member with confirmed SARS-CoV-2 infection. The most common symptoms were cough in 41 (55.4%) and fever in 38 (51.4%). Typical CT patterns of viral pneumonia were exhibited in 40 (54.1%) children, including ground-glass opacity and interstitial abnormalities. However, 17 (23.0%) children were classified as asymptomatic carriers, with neither symptoms nor radiological findings. Also, 68 (91.9%) children recovered fully and showed negative results on RT-PCR assay by nasopharyngeal swabs during our observation period. In contrast to the negative result for nasopharyngeal swab, 34% of the anal swabs showed a continued positive result. The mean hospitalization days of the children discharged after full recovery was 10.0 days. Conclusion: Within family clusters that had SARS-CoV-2 infection, children had mild or even asymptomatic illness. Although CT is highly sensitive, it should be avoided in follow-up of the disease in consideration of the radiological hazards and limited clinical benefits for mild illness in children. Furthermore, it is advocated that both nasopharyngeal and anal swabs should be confirmed negative for viral load prior to declaring full recovery so as to avoid oral-fecal transmission. Asymptomatic children with family clusters are potentially a little-known source of COVID-19. This therefore warrants an urgent reassessment of the transmission dynamics of the current outbreak.
Background: Epileptic encephalopathies (EEs) are a pediatric entity with highly phenotypic and genetic heterogeneity. Both single nucleotide variants (SNVs)/Indels and copy number variations (CNVs) could be the causes. Whole exome sequencing (WES) is widely applied to detect SNVs/Indels, but the bioinformatics approach for detecting CNVs is still limited and weak. In the current study, the possibility of profiling both disease-causing SNVs/Indels and CNVs in a single test based on WES in EEs was evaluated.Methods: The infants diagnosed with EEs were enrolled from a single pediatric epilepsy center between January 2018 and February 2020. Demographic and clinical data were collected. In WES data, the pathogenic SNVs were identified through an in-house pipeline, and pathogenic CNVs were identified by CNVkit. The diagnostic rate was evaluated, and the molecular findings were characterized.Results: A total of 73 infants were included; 36 (49.32%) of them were males. The median age was 7 months. Thirty-two (43.84%) infants had been diagnosed with epilepsy syndrome. The most common type of syndrome was West syndrome (22/73, 30.1%), followed by Dravet syndrome (20/77, 27.4%). Fifty-four (73.97%) had intellectual development delay. The genetic cause of EEs, pathogenic or likely pathogenic variants, were successfully discovered in 46.6% (34/73) of the infants, and 29 (39.7%) infants carried SNVs/Indels, while 5 (6.8%) carried CNVs. The majority of the disease-causing variants were inherited in de novo pattern (25, 71.4%). In addition to showing that the variants in the ion channel encoding genes accounted for the main etiology, we discovered and confirmed two new disease-causing genes, CACNA1E and WDR26. Five discovered CNVs were deletions of 2q24.3, 1p36, 15q11-q13, 16p11.2, and 17p13.3, and all were confirmed by array comparative genomic hybridization.Conclusion: The application of both SNVs/Indels and CNVs detection in a single test based on WES yielded a high diagnosis rate in EEs. WES may serve as a first-tier test with cost-effective benefit in EEs.
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