Since the establishment of eight-year clinical medicine specialty, in line with the princi-ple of "eight-year consistency and fusion of the bachelor and doctor degree", the training mode of "strength-ening the foundation, focusing on quality, overall optimization, facing the clinical" has been implemented. In order to reach the standard of professional doctorate, a series of courses of professional doctorate need to be fused in limited time and designed carefully by medical schools. However, grasping proper teaching time and opportunity is particularly important for students' learning and development. By collecting the courses information of 11 medical colleges and universities offering eight-year clinical medicine specialty, we have analyzed the teaching time, methods and course categories of scientific research training courses and graduate degree courses, aiming to find the appropriate teaching program.

OBJECTIVETo explore the genetic cause for a Uyghur Chinese child with collodion skin.

METHODSG-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child.

RESULTSNo karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected in the patient a previously described pathogenic mutation c.919C>T (p.Arg307Trp) and a novel c.856C>T (p.Arg286Trp) mutation in the TGM1 gene. By Sanger sequencing, the child was verified to have carried both mutations. His father was found to be a heterozygous carrier of the c.856C>T (p.Arg286Trp) mutation, while neither mutation was found in the mother.

CONCLUSIONCongenital ichthyosis associated with the TGM1 gene may show an autosomal recessive inheritance. The collodion condition of the child is probably due to the compound heterozygous mutations of the TGM1 gene.

Child ; Chromosome Banding ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Ichthyosis, Lamellar ; genetics ; Infant ; Karyotyping ; Mutation ; Transglutaminases ; genetics

OBJECTIVETo investigate the promoter methylation of p16, FHIT and RASSF1A gene and telomere damage in the workers exposed to coal tar pitch, and to explore the effective biomarker of occupational exposure to coal tar pitch.

METHODS180 cases of workers exposed to coal tar pitch in a certain carbon plant named as exposure group, and 145 healthy cases with a medical examination in the first affiliated hospital of Zhengzhou University were selected as control group. Relative telomere length in peripheral blood DNA was detected using real-time quantitative PCR, and the promoter methylation rate of p16, RASSF1A and FHIT gene in peripheral blood DNA were determined by real-time quantitative methylation specific PCR. The relative telomere length and gene promoter methylation in two groups were compared, and influencing factors were analyzed.

RESULTSRelative telomere length in exposed group was lower than that in the control group, and the difference was statistically significant (Z = -5.395, P < 0.001). There was no significant difference in the promoter methylation rate of p16, FHIT and RASSF1A gene between the two groups (P > 0.05). Stratification analysis by gender, age, and smoking, we found that when the age was less than or equal to 40, the promoter methylation rate of p16 in exposed group was more than that in control group, and the difference was statistically significant (Z = -1.914, P = 0.011).

CONCLUSIONOccupational exposure to coal tar pitch may induce leukocyte DNA telomere length of human peripheral blood shortened, and may not change the promoter methylation rates of p16, FHIT and RASSF1A gene.

Acid Anhydride Hydrolases ; genetics ; Coal Tar ; adverse effects ; Cyclin-Dependent Kinase Inhibitor p16 ; genetics ; DNA Methylation ; Humans ; Leukocytes ; drug effects ; Neoplasm Proteins ; genetics ; Occupational Exposure ; adverse effects ; Promoter Regions, Genetic ; Telomere ; drug effects ; ultrastructure ; Tumor Suppressor Proteins ; genetics

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS). METHODS: The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members. RESULTS: The proband was found to harbor a c.1627C>T (p.Gln543Ter) nonsense variant of the EYA1 gene. Sanger sequencing confirmed that all of the 4 patients with the BOS phenotype from the pedigree have harbored the same heterozygous variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS+PP3+PP4). CONCLUSION The c.1627C>T (p.Gln543Ter) variant of the EYA1 gene probably underlay the BOS phenotype in this pedigree. Above finding has provided a basis for its clinical diagnosis.
Branchio-Oto-Renal Syndrome ; China ; Humans ; Intracellular Signaling Peptides and Proteins/genetics* ; Mutation ; Nuclear Proteins/genetics* ; Pedigree ; Protein Tyrosine Phosphatases/genetics*

Objective To investigate the application of liver three-dimensional (3D) visualized reconstruction technique in hepatectomy for children with complicated hepatoblastoma. Methods A retrospective analysis was performed for the clinical data of 30 children with hepatoblastoma who underwent hepatectomy for radical resection in PLA Rocket Force Characteristic Medical Center from January 2018 to October 2020, and according to whether liver 3D visualization with IQQA-Liver system was performed before surgery, the children were divided into 3D reconstruction group with 15 children and control group with 15 children. The two groups were compared in terms of perioperative parameters, short-term prognosis, and follow-up conditions. The independent samples t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups; the Fisher's exact test was used for comparison of categorical data between two groups. Results Compared with the control group, the 3D reconstruction group had a significantly higher mean age (55.7±10.2 years vs 28.2±2.7 years, P < 0.05) and a significantly higher number of patients with POSTTEXT stage III/VI hepatoblastoma (12 vs 5, P < 0.05) or involvement of the hepatic vein or the inferior vena cava (11 vs 3, P < 0.05). All children completed the surgery successfully, and there were no significant differences between the two groups in blood loss, time of operation, number of times and duration of hepatic portal occlusion, and number of children receiving segmental hepatectomy or partial hepatectomy (all P > 0.05). The median follow-up after surgery was 9.5 months. In the 3D reconstruction group, 2 children experienced recurrence and were diagnosed at 10 and 12 months, respectively, after surgery, and they were treated with chemotherapy at the moment; in the control group, 4 children experienced recurrence, which was higher than that in the 3D reconstruction group ( P =0.651), and among these 4 children, 2 had recurrence at 7 months after surgery, received liver transplantation, and survived up to now, and the other 2 children died shortly after recurrence. Conclusion 3D visualized reconstruction technique helps to perform hepatectomy for children with complicated hepatoblastoma more safely and accurately, especially extended hepatectomy for patients with stage POST TEXT III/IV hepatoblastoma, thereby avoiding liver transplantation.