Objective:The outbreak of COVID-19 in China has spread rapidly across the country since December 2019, the population is generally susceptible, and human-to-human transmission has gradually spread out. This article explores the value of HRCT in the diagnosis of COVID-19.Methods:This article explores the typical CT imaging findings, imaging staging, imaging diagnosis process and differential diagnosis of the COVID-19.Results:With the emergence of the classification of "clinical diagnostic cases" in Hubei Province, imaging examinations, especially HRCT, play important roles in the diagnosis of COVID-19. HRCT is helpful for early screening of suspected cases and monitoring the dynamic changes of the disease.Conclusions:HRCT will make up for missed diagnosis caused by the false negative of the viral nucleic acid detection, and empower the clinical diagnosis and treatment of Novel Coronavirus Pneumonia with more scientificity and effectivity.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote