OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ). METHODS: A child with OFDSⅠ who received treatment at the Women and Children's Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children's Hospital (Ethic No.: EC 2024-063). RESULTS: The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c.710dup (p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child's parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+PS4_Moderate+PM2-Supporting+PM6_Supporting+PP4). CONCLUSION Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c.710dup (p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.
Humans ; Female ; Orofaciodigital Syndromes/genetics* ; Exome Sequencing ; Retrospective Studies ; Mutation ; Child ; Proteins

OBJECTIVE: To explore the genetic characteristics and pathogenesis for a child with mosaicism trisomy 21 and Congenital leukemia (CL). METHODS: A child who was admitted to Ningbo Women and Children's Hospital in March 2023 was selected as the study subject. A retrospective analysis was carried out on the clinical data, laboratory test results, immunophenotyping, and genetic characteristics of the child. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: EC2024-063). RESULTS: Whole genome sequencing (WGS) revealed that the child has mosaicism trisomy of chromosome 21, with a ratio of approximately 74%. In addition, copy number variations involving multiple OMIM genes that could explain his clinical phenotype were detected and rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). No pathogenic variant was detected with the GATA1 gene. Blood immune typing of the child conformed to the immunophenotype of acute myeloid leukemia. CONCLUSION For children with trisomy 21, even in the absence of GATA1 gene variants, the occurrence of CL should be monitored, and early diagnosis and treatment are of great significance for improving the prognosis.
Child, Preschool ; Humans ; DNA Copy Number Variations/genetics* ; Down Syndrome/genetics* ; GATA1 Transcription Factor/genetics* ; Leukemia/congenital* ; Mosaicism ; Mutation ; Retrospective Studies ; Whole Genome Sequencing

Objective:To explore the application value of artificial intelligence (AI) in image post-processing of reconstructed CTA based on CT cerebral perfusion (CTP).Methods:Clinical and radiological data of 100 patients suspected of cerebrovascular diseases in Hebei General Hospital from January to July 2020 were retrospectively selected. All patients were divided into A and B group on average according to the different examination schemes. Cerebral CTP examination was performed in group A (the temporal maximum intensity projective data set generated by the first 5 time phases in the maximum period of the difference between arteriovenous CT values selected as subgroup A1, and the corresponding original thin-layer images selected as subgroup A2), single phase CTA examination was performed in group B, manual and AI image post-processing were performed respectively. Subjective scoring of the image data was performed, and the objective bid evaluation indexes such as CT value, noise (SD), signal-to-noise ratio (SNR), contrast to noise ratio (CNR) were measured, the qualified rate of artificial and AI vascular segmentation was counted, and post-processing time were recorded. The objective evaluation indexes were compared between three groups using one-way ANOVA, and the Kruskal-Wallis H test was used to compare the difference of subjective scores.Results:Statistically significant differences were observed in subjective score and objective evaluation index of original images among group A1, group A2 and group B (all P<0.05). Among them, arterial enhancement, arteriolar detail display score, cerebral artery CT value, SNR and CNR in group A1 were higher than those in group A2 and group B (all P<0.05). In a total of 100 patients with 1 100 blood vessels, the qualified rates of AI vascular segmentation in group A1 [98.4% (541/550)] and group B [98.7% (543/550)] were higher than those of manual [82.9% (456/550), 87.1% (479/550), χ2=77.392, 56.521, P<0.001], but the qualified rate of AI vascular segmentation of group A2 [78.4% (431/550)] was lower than that of manual [85.6% (471/550), χ2=9.855, P=0.002]. The completion time of AI post-processing were reduced by 56.30%, 49.63%, 50.81%, respectively than those with manual. Conclusion:Compared with manual image post-processing, AI has certain advantages in image quality and work efficiency of reconstructed CTA post-processing based on CTP de-noising dataset, and it is worth popularizing and applying in the image post-processing of cerebrovascular disease, combined with artificial quality control.

Objective:To explore the application effect of case-based learning (CBL) in teaching magnetic resonance imaging (MRI) for non-imaging clinical professional postgraduates.Methods:Eighty non-imaging clinical professional postgraduates who had standardized residency training from 2017 to 2019 were selected as the participants and were randomly divided into two groups, experimental group and control group. The experimental group adopted CBL, and the control group adopted traditional teaching mode. After the standardized training in the radiology department, the differences in image reading scores, theoretical scores and course evaluation were compared between the two groups. SPSS 25.0 statistical software was used for analysis. Independent t test was used for the measurement data of normal distribution, Mann-Whitney U test was used for the measurement data of skewed distribution, and categorical variables were compared by chi-square test. Results:In the reading scores of MRI, the scores of the experimental group and the control group were (82.53 ± 5.72) points and (77.38 ± 6.14) points respectively, and the number of students in the experimental group whose reading scores were between 80-100 segment was 63.6% higher than that in the control group, with significant differences between the two groups ( P < 0.001), but without significant differences in theoretical average scores between the two groups ( P > 0.05). In addition, in the course evaluation, except for the index of learning burden, there were significant differences in other indexes between the experimental group and the control group ( P < 0.05). Conclusion:In the teaching of MRI, the application of the CBL helps non-imaging clinical professional postgraduates improve their MRI diagnostic thinking and independent reading ability.