Objective To explore the interactive teaching model for CT imaging based on PACS, and provide the clinician and young radiologist with continued medical education. Methods 100 M trunk net was adopted in PACS and 10 M was exchanged on desktop. Teaching model was installed in browse and diagnosis workstation. Teaching contents were classified according to region and managed according to branch model. Text data derived from authoritative textbooks, monograph , and periodicals. Imaging data derived from cases proved by pathology and clinic. The data were obtained through digital camera and scanner or from PACS. After edited and transformed into standard digital image through DICOM server, they were saved in HD of PACS image server with file form. Results Teaching model for CT imaging provided kinds of cases of CT sign, clinic characteristics, pathology and distinguishing diagnosis. Normal section anatomy, typical image , and its notation could be browsed real time. Teaching model for CT imaging could provide reference to teaching, diagnosis and report. Conclusion PACS based teaching model for CT imaging could provide interactive teaching and scientific research tool and improve work quality and efficiency.

OBJECTIVE: To explore the clinical phenotype and genetic basis of a neonate with Au-Kline syndrome (AKS). METHODS: Clinical data and result of genetic testing of a neonate with AKS who was admitted to the Affiliated Provincial Children's Hospital of Anhui Medical University in January 2021 were retrospectively analyzed. Relevant literature was searched from the Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed databases using key words "Au Kline syndrome", "Au-Kline syndrome", "HNRNPK" and "AKS". The research period was set as from January 1, 2000 to December 31, 2020. RESULTS: The male newborn has manifested feeding difficulties, hypotonia, absence of the upper jaw to the uvula and facial dysmorphism. Trio-whole exome sequencing revealed that he has harbored a frameshift c.478dupA (p.Ile160AsnfsTer7) variant of the HNRNPK gene, which was varified by Sanger sequencing to have a de novo origin. The variant has not been included in the databases. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). Literature retrieval has identified 14 children with AKS and de novo mutations of the HNRNPK gene. Their clinical manifestations have included growth and motor retardation, various degree of mental retardation, facial dysmorphism and a high frequency of congenital heart malformations. CONCLUSION The AKS in this child may be attributed to the c478dupA frameshifting variant of the HNRNPK gene. Diagnosis of AKS should be suspected for children with mental retardation and multiple congenital malformation syndromes including Kabuki syndrome.
Humans ; Male ; Abnormalities, Multiple/genetics* ; Genetic Testing ; Heterogeneous-Nuclear Ribonucleoprotein K/genetics* ; Intellectual Disability/genetics* ; Mutation ; Retrospective Studies ; Infant, Newborn