OBJECTIVE: To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants. RESULTS: Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c.3096dup (p.Pro1033Thrfs*2) and c.3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene. CONCLUSION Diagnosis of Bainbridge Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.
Child ; China ; Developmental Disabilities/genetics* ; Humans ; Language ; Mutation ; Pedigree ; Phenotype ; Transcription Factors/genetics*

OBJECTIVE: To explore the genetic basis for two unrelated patients with global developmental delay and coarse facial features. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing and Sanger sequencing were carried out to detect potential variants. RESULTS: The two patients have presented with global developmental delay, coarse facies, muscular hypotonia, congenital heart disease, and pectus excavatum, and were found to harbor two de novo loss-of-function variants of the ARID1B gene, namely c.3586delC (p.Gln1196Serfs*15) and c.4954_4957delACGT (p.Thr1652Glyfs*31). Both variants were unreported previously. CONCLUSION The nonsense variants of the ARID1B gene probably underlay the etiology in these patients. Above finding has enriched the genotypic and phenotypic spectrum of the disease and provided a basis for prenatal diagnosis.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Facies ; Hand Deformities, Congenital/genetics* ; Humans ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Neck/abnormalities* ; Transcription Factors/genetics*

OBJECTIVE: To analyze the clinical characteristics and genetic variant of a child featuring X-linked mental retardation. METHODS: Whole exome sequencing and Sanger sequencing were used for the detection of variant and pedigree validation, respectively. Clinical manifestation of patients with DDX3X gene variants were also reviewed. RESULTS: The child was found to harbor a heterozygous NM_001193416.3: c.1332_1333delCT (p.Leu445Serfs*19) variant of the DDX3X gene. The same variant was not found in either of her parents. CONCLUSION The child was diagnosed with X-linked mental retardation due to variant of the DDX3X gene. Above finding has enriched the spectrum of DDX3X gene variants and provided a basis for clinical diagnosis and prenatal diagnosis for this pedigrees.
Child ; DEAD-box RNA Helicases/genetics* ; Female ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/genetics* ; Mutation ; Pedigree ; Pregnancy ; Exome Sequencing

Objective To investigate the basic situation of radiodiagnosis and radiotherapy institutions and the frequency of medical exposure in Fangshan District, Beijing, China. Methods A general survey using the questionnaire was conducted online to obtain the basic situation of the radiodiagnosis and radiotherapy institutions, the number of people in each type of radiodiagnosis and radiotherapy project, and the number of the usually resident population in the whole district in 2019, thus obtaining the frequency of medical exposure in each type of radiodiagnosis and radiotherapy project. Results There were 60 radiodiagnosis and radiotherapy institutions, 565 radiology staff, and 199 sets of radiodiagnosis and radiotherapy equipment in the whole district in 2019. The frequency of medical exposure was 521.29 per 1000 people, among which conventional medical diagnostic X-ray workers accounted for 301.79 per 1000 people (57.89%) and computed tomography workers accounted for 207.56 per 1000 people (39.82%). The number of tertiary hospitals accounted for 6.67% of the radiodiagnosis and radiotherapy institutions, and the number of people exposed tomedical radiation in tertiary hospitals accounted for 52.25% of the total. The number of secondary hospitals accounted for 5.00% of the radiodiagnosis and radiotherapy institutions, and the number of people exposed to medical radiation in secondary hospitals accounted for 27.83% of the total. Conclusion The distribution of medical exposure in Fangshan District is uneven. The radiodiagnosis and radiotherapy technology used is relatively single. Relevant departments should strengthen macroscopic readjustment and control, and formulate reasonable policies, so as to rationally allocate and effectively utilize medical and health resources.

Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer, and its mortality ranks fourth in global malignant tumors. Early diagnosis of HCC has an important impact on the survival rate of patients. Exosomal microRNA (miRNA) is closely related to the occurrence and development of HCC. It can be secreted and transferred to recipient cells through the corresponding target genes, and play a role of regulating cancer progression. Exosomal miRNAs have great differences in the expression of HCC patients and in vitro cell lines, and it has the advantages of high content, specificity and stability relative to circulating miRNAs. It not only can better distinguish between HCC and healthy patients, but also can be further differentiated from hepatitis or cirrhosis, and it also has certain value in the diagnosis of recurrent HCC.