OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

Objective To assess the occupational health literacy (OHL) level and health education needs among workers in chemical enterprises in Fuling District, Chongqing City. Methods A total of 8 209 workers from 18 chemical enterprises in Fuling District, Chongqing City were selected as the research subjects using the judgment sampling method. The Occupational Health Literacy Survey Questionnaire designed by the research team was used to survey OHL levels and health education needs in workers. Results The OHL level of the research subjects was 62.1% (5 101/8 209). Multivariable logistic regression analysis showed that the OHL level of male workers was higher than that of females (P<0.01); higher OHL was also associated with higher education level, higher personal monthly income and smaller enterprises of workers (all P<0.01); production team leaders, safety production/technical management personnel, and administrative/logistics staff all had higher OHL levels than front-line operators (all P<0.05); and workers who participated in occupational health knowledge training more frequently had higher OHL levels (all P<0.05). The result of health education needs investigation showed that 97.8% of the research subjects believed that occupational health knowledge training provided by their workplaces could improve workers' OHL levels; the main channels for workers obtaining occupational health knowledge and information on workplace hazards were “employer-organized occupational health training” and “warning signs and labels”, accounting for 93.9% and 90.9%, respectively; 59.9% of workers preferred to acquire occupational health knowledge through “training or publicity organized by their workplace”. However, a current problem with occupational health knowledge publicity is its lack of diverse formats. Conclusion The OHL level of workers in chemical enterprises in Fuling District, Chongqing City is influenced by gender, educational level, enterprise size, job position, monthly personal income, and training status. The formats of occupational health knowledge publicity should be optimized.

Objective:To investigate the diagnostic value of 3.0T magnetic resonance with high b-value diffusion weighted imaging (DWI) for endometrial carcinoma (EC).Methods:The clinical data of 118 patients with suspected endometrial lesions were analyzed retrospectively. Among them, 83 cases were pathologically diagnosed as EC (EC group), and 35 cases were diagnosed as complex or atypical hyperplasia (endometrial hyperplasia group). In addition, 47 patients with normal endometrial (normal endometrial group) in the same period were selected. All patients underwent 3.0T MRI conventional T 2-weighted imaging (T 2WI) and multiple b-value (0, 300, 400, 600, 800, 1 000, 2 000, 3 000 and 4 000 s/mm 2) DWI scans. The endometrial signal intensity on different b-value DWI was measured. The b-value-endometrial signal intensity curve was drawn, and the decline degree of endometrial signal intensity was calculated. Results:When b-value was 300, 400, 600 and 800 s/mm 2, there was no significant difference in endometrial signal intensity among the three groups ( P>0.05); when b-value was 1 000, 2 000, 3 000 and 4 000 s/mm 2, the signal intensity in EC group was significantly higher than that in normal endometrial group and endometrial hyperplasia group (456.1 ± 119.4 vs. 371.3 ± 99.9 and 381.6 ± 184.8, 284.2 ± 91.9 vs. 163.2 ± 46.5 and 191.4 ± 110.8, 196.7 ± 72.4 vs. 103.7 ± 30.9 and 129.4 ± 83.1, 151.6 ± 54.8 vs. 74.6 ± 20.8 and 101.1 ± 60.7), and there was statistical difference ( P<0.05); while there was no significant difference between normal endometrial group and endometrial hyperplasia group ( P>0.05). The results of b-value-endometrial signal intensity curve showed that the decrease of endometrial signal intensity in EC group was significantly lower than that in normal endometrial group and endometrial hyperplasia group (0.79 ± 0.05 vs. 0.90 ± 0.03 and 0.87 ± 0.04), the index in endometrial hyperplasia group was significantly lower than that in normal endometrial group, and there was statistical difference ( P<0.05). Conclusions:High b-value DWI is useful for the differentiation of benign and malignant endometrial lesions, and it can improve the qualitative diagnostic value of EC.

Objective:To establish a risk model of placenta accreta spectrum(PAS) based on the clinical risk factors and ultrasound signs of patients with placenta accreta, and identify severe placenta accreta prenatal.Methods:A retrospective analysis was performed on 121 PAS patients admitted to Beijing Obstetrics and Gynecology Hospital Affiliated to Capital Medical University from January 2018 to June 2022 who were clinically classified or pathologically diagnosed during delivery. The two groups were divided into light and severe groups according to the implantation type. The clinical risk factors and ultrasound signs between the two groups were compared. A risk model of PAS was established based on the clinical risk factors and ultrasound signs to predict the perinatal complications.Results:A total of 130 cases of PAS were clinically diagnosed or pathologically diagnosed with placenta, 9 cases with incomplete clinical data or irregular ultrasound images were excluded, and the remaining 121 cases were included in the study. Among the 121 patients, 64 cases were placental accreta, 39 cases were placental increta, and 18 cases were placenta percreta. The placental accreta was defined as mild group, and the combination of placental increta and placenta percreta were referred to as severe group. There were no significant differences in placenta previa, and the number of uterine cavity operations (all P>0.05). There were significant differences in the number of cesarean section, myometrium thinning, placental lacunae, abnormal vascularization at the utero-bladder junction, bridging vessels at the utero-bladder junction, placental protuberance and cervical involvement (all P<0.05). Binary logistic regression analysis showed that placental lacunae, abnormal vasculization of the utero-bladder interface and the number of cesarean sections were independent risk factors for severe PAS. Based on this, a risk model was established and the ROC curve of each independent risk factor and risk model was plotted respectively. The AUC of the risk model was 0.826, which had better diagnostic efficacy than other independent risk factors. Conclusions:In the prenatal ultrasound classification diagnosis of high-risk patients with PAS, the placental lacunae, abnormal vascularization of utero-bladder interface and the number of cesarean section are combined to establish the risk model of PAS, which has a good diagnostic efficacy for severe placenta accreta.

At present, the experimental examination of medical morphology courses in most medical colleges and universities still adopt traditional specimen examination or PPT examination, and there are many disadvantages. This paper introduces how to build a system with B/S architecture based on the local area network, and how to set up an examination system to realize the functions of user management, online examination database updating, free examination paper formation, examination running and automatic marking. Through its application in Chengdu Medical College in recent years, the medical morphology online picture exam system has effectively promoted the reform of the examination methods, the style of study and the effect of experimental teaching. However, there are still some problems, such as high investment cost and limited examination room.

Objective:To explore the the predictive value of ultrasound signs of the involvement of the cervix in the clinical grade diagnosis of placenta accreta spectrum(PAS) with placenta previa and adverse pregnancy outcomes.Methods:A retrospective analysis was performed on PAS patients with placenta previa diagnosed during delivery or by cesarean section in Beijing Obstetrics and Gynecology Hospital Affiliated to Capital Medical University from January 2018 to March 2021. According to the signs of cervical involvement on prenatal ultrasound, the patients were divided into cervical involvement group and cervical non-involvement group. Logistic analysis was performed on clinical data between the two groups. The clinical data, hysterectomy rate, intraoperative blood loss and clinical diagnosis were compared between the two groups.Results:There were 1 455 patients with PAS diagnosed by clinical diagnosis or placental pathology, of which 170 were with placenta previa, 24 with incomplete clinical data or non-standard ultrasound images, and the remaining 146 patients were included. In the cervical involvement group, all of 6 cases had placenta percreta. Of the 140 cases in the unaffected cervical group, 89 cases (63.6%) had placental accreta, 48 cases (34.3%) had placental increta, and 3 cases (2.1%) had placenta percreta. There were no significant differences of the age and uterine operation history between the two groups. There was significant difference in the number of cesarean sections between the two groups ( P<0.05). There were significant differences in intraoperative blood loss, hysterectomy rate and placenta accreta grade diagnosis between the two groups(χ 2/ Z=4.203, 11.165, 95.248, all P<0.05). Conclusions:The ultrasonographic signs of cervical involvement have a good predictive value for the pregnancy outcome of PAS.

Objective: To investigate the clinical efficacy of cevimeline as a pharmacotherapeutic approach to stimulating gland activity in improving the symptoms and signs of primary Sjögren syndrome (pSS). Methods: Sixty-three patients diagnosed with pSS who attended the Affiliated Huai'an Hospital of Xuzhou Medical University from January 2018 to September 2019 were included in this trial. They were randomly assigned to the therapeutic group and control group. All patients were recalled at baseline and after 2 weeks, 3 months and 6 months. Measurement of salivary and lacrimal flow as well as evaluation of subjective symptoms was performed at the follow-up. Results: Fifty-eight patients completed the trial and were included in the statistical analysis. There was a significant difference between the two groups in the measurement of salivary and lacrimal flow at the second week and third month (P < 0.05). Improvement in subjective symptoms of oral, ocular and gland was detected at the third month (P < 0.05). At the sixth month, compared with the control group, only the salivary gland symptom score of the treatment group was statistically significant (P < 0.05). Conclusion Cevimeline has good specificity and safety and can increase salivary and lacrimal flow and improve subjective symptoms of pSS in a short time.

To establish a case-based learning (CBL) database of Pathology for medical students in imaging specialty, which includes chief complaints and history of present illness, case characteristics, imaging findings, questions, surgical findings and discussion. Cases in the CBL database was obtained from newly resected specimen, which were combined with various imaging test results of patients before surgery. All the information of each case, including postoperative pathological diagnosis report, was collected to perfect the database. The database was used in the CBL teaching of pathology, which has stimulated students' learning initiative and enthusiasm, cultivated their logic thinking of imaging diagnosis and improved the teaching effect.

At present, the experimental examination of medical morphology courses in most medical colleges and universities still adopt traditional specimen examination or PPT examination, and there are many disadvantages. This paper introduces how to build a system with B/S architecture based on the local area network, and how to set up an examination system to realize the functions of user management, online examination database updating, free examination paper formation, examination running and automatic marking. Through its application in our school in recent years, the medical morphology online picture exam system has effectively promoted the reform of the examination methods, the style of study and the effect of experimental teaching. However, there are still some problems, such as high investment cost and limited examination room.

OBJECTIVE: To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age. METHODS: A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age. RESULTS: For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb). CONCLUSION Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Chromosome Aberrations ; Chromosome Disorders ; DNA Copy Number Variations ; Female ; Humans ; Maternal Age ; Pregnancy ; Prenatal Diagnosis ; Prospective Studies