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 investigate the diagnostic value of fetal MRI in external ear abnormalities.Methods:28 fetuses with suspected ear abnormalities based on ultrasound and MRI in Beijing Obstetrics and Gynecology Hospital, Capital Medical University from August 2019 to February 2024 were enrolled retrospectively. The morphology of fetal auricle and external auditory canal were observed to determine the types of external ear abnormalities. The results of postpartum physical examination were taken as the gold standard, paired χ 2 test and kappa test were used with SPSS 21.0 software to compare the difference and consistency of fetal MRI and ultrasound in diagnosis of external ear abnormalities. Results:22 cases (31 ears) of microtia were found, of which 30 ears were detected by MRI (sensitivity 96.8%, specificity 100%, accuracy 98.2%) and 28 ears were detected by ultrasound (sensitivity 87.1%, specificity 96.0%, accuracy 91.1%). The detection rates of the two methods were higher in MRI, but there was no statistically significant difference between MRI and ultrasound in diagnosis of microtia ( P=0.688), and the results of the two examinations were consistent ( kappa=0.786, P<0.001). 24 ears of external auditory canal atresia were all correctly diagnosed by MRI. However, ultrasound could not detect any external auditory canal atresia. Conclusion:The diagnostic ability of MRI for fetal external ear abnormalities was similar to that of ultrasound, and it showed obvious advantages in the diagnosis of external ear canal atresia.

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 identify Bupleurum chinense pieces and its counterfeits based on the characteristic chromatogram and UPLC-Q-TOF/MS technology.METHODS Thin layer chromatography was used to identify Bupleurum chinense and its counterfeits collected from different origins and different producing areas.Then,the chemical constituents of Bupleurum chinense and its counter-feits were compared according to the established HPLC characteristic chromatogram,and the representative differential markers of Bup-leurum chinense counterfeits were further identified by UPLC-Q-TOF/MS technology.RESULTS Thin layer chromatography showed that different original Bupleurum chinense pieces had saikosaponin A and saikosaponin D,which could be distinguished according to the intensity and position of fluorescent spots.There were 14 and 16 common peaks in the specific chromatogram of Bupleurum chinense and its vinegar-processed products respectively,and 6 components were identified.The chemical components of Bupleurum chinense pieces from different producing areas were similar,and the established method could better reflect the characteristics of Bupleurum chinense.Further comparison of the specific chromatogram of Bupleurum chinense and its counterfeits showed that the composition of B.marginatum Wall.was close to that of the authentic Bupleurum chinense.,B.bicaule Helm and B.longiradiatum Turcz.had their own characteristic peaks with high response values.The content of saponins in B.marginatum var.stenophyllum was significantly high-er.A total of 69 Bupleurum compounds were identified by UPLC-Q-TOF/MS mainly triterpenoid saponins,followed by flavonoids,a few chromones,phenylpropanoids and alkynes.The results of cluster analysis showed that the interspecific differences of Bupleurum chinense were obvious,and different Bupleurum counterfeits had representative differential markers.CONCLUSION The established characteristic chromatogram and UPLC-Q-TOF/MS method can be used for the chemical identification of Bupleurum chinense and its counterfeits,which provide a basis for the comprehensive and rational development and utilization of Bupleurum resources.

OBJECTIVE To identify Bupleurum chinense pieces and its counterfeits based on the characteristic chromatogram and UPLC-Q-TOF/MS technology.METHODS Thin layer chromatography was used to identify Bupleurum chinense and its counterfeits collected from different origins and different producing areas.Then,the chemical constituents of Bupleurum chinense and its counter-feits were compared according to the established HPLC characteristic chromatogram,and the representative differential markers of Bup-leurum chinense counterfeits were further identified by UPLC-Q-TOF/MS technology.RESULTS Thin layer chromatography showed that different original Bupleurum chinense pieces had saikosaponin A and saikosaponin D,which could be distinguished according to the intensity and position of fluorescent spots.There were 14 and 16 common peaks in the specific chromatogram of Bupleurum chinense and its vinegar-processed products respectively,and 6 components were identified.The chemical components of Bupleurum chinense pieces from different producing areas were similar,and the established method could better reflect the characteristics of Bupleurum chinense.Further comparison of the specific chromatogram of Bupleurum chinense and its counterfeits showed that the composition of B.marginatum Wall.was close to that of the authentic Bupleurum chinense.,B.bicaule Helm and B.longiradiatum Turcz.had their own characteristic peaks with high response values.The content of saponins in B.marginatum var.stenophyllum was significantly high-er.A total of 69 Bupleurum compounds were identified by UPLC-Q-TOF/MS mainly triterpenoid saponins,followed by flavonoids,a few chromones,phenylpropanoids and alkynes.The results of cluster analysis showed that the interspecific differences of Bupleurum chinense were obvious,and different Bupleurum counterfeits had representative differential markers.CONCLUSION The established characteristic chromatogram and UPLC-Q-TOF/MS method can be used for the chemical identification of Bupleurum chinense and its counterfeits,which provide a basis for the comprehensive and rational development and utilization of Bupleurum resources.

Objective:To investigate the diagnostic value of fetal MRI in external ear abnormalities.Methods:28 fetuses with suspected ear abnormalities based on ultrasound and MRI in Beijing Obstetrics and Gynecology Hospital, Capital Medical University from August 2019 to February 2024 were enrolled retrospectively. The morphology of fetal auricle and external auditory canal were observed to determine the types of external ear abnormalities. The results of postpartum physical examination were taken as the gold standard, paired χ 2 test and kappa test were used with SPSS 21.0 software to compare the difference and consistency of fetal MRI and ultrasound in diagnosis of external ear abnormalities. Results:22 cases (31 ears) of microtia were found, of which 30 ears were detected by MRI (sensitivity 96.8%, specificity 100%, accuracy 98.2%) and 28 ears were detected by ultrasound (sensitivity 87.1%, specificity 96.0%, accuracy 91.1%). The detection rates of the two methods were higher in MRI, but there was no statistically significant difference between MRI and ultrasound in diagnosis of microtia ( P=0.688), and the results of the two examinations were consistent ( kappa=0.786, P<0.001). 24 ears of external auditory canal atresia were all correctly diagnosed by MRI. However, ultrasound could not detect any external auditory canal atresia. Conclusion:The diagnostic ability of MRI for fetal external ear abnormalities was similar to that of ultrasound, and it showed obvious advantages in the diagnosis of external ear canal atresia.

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 explore the efficacy and safety of evolocumab in elderly patients with high-risk cardiovascular diseases.Methods A total of 153 patients with poor lipid control after conventional statin therapy who were hospitalized in the cardiologic departments in the First,Sec-ond,Sixth and Eighth Medical Centers of Chinese PLA General Hospital from November 2019 to November 2022 were included,and divided into non-elderly group(＜60 years old,46 cases),eld-erly group(60-74 years old,66 case)and very elderly group(≥75 years old,41 cases).They were all given evolocumab treatment according to guidelines.Another 50 over-75-year-old patients with high-risk cardiovascular diseases and poor lipid control who were hospitalized in the above cardiologic departments during the same period were treated with a statin drug combined with ezetimibe,and served as conventional treatment group(control group).The baseline clinical data and the blood indicators at 4th and 12th week after drug administration,and the occurrence of ad-verse drug reactions and major adverse cardiovascular events(MACE)within 12 weeks were com-pared among the groups.Results The levels of LDL-C and TC were significantly decreased in the three evolocumab treatment groups at 4 and 12 weeks after medication when compared with the baseline values(P＜0.05,P＜0.01),but there were no obvious differences in the 2 levels among the 3 groups at 12 weeks(P＞0.05).At the time point,no statistical difference was observed in the incidence of adverse events in the three groups(2.2％vs 3.0％vs 2.4％,P＞0.05).The levels of LDL-C and TC were decreased significantly in the very elderly group and the conventional treatment group at the 12th week when compared with the baseline levels(P＜0.05,P＜0.01),and the LDL-C level at the week was notably lower in the very elderly group than the convention-al treatment group(1.36±0.44 mmol/L vs 1.87±0.56 mmol/L,P＜0.01).But no difference was seen in the incidence of MACE between the 2 groups(12.2％vs 16.0％,P＞0.05),either in sur-vival rate between them(P=0.576).Conclusion For patients of all ages,evolocumab has good short-term efficacy in lipid control,and for those over 75 years old,the drug also shows good effi-cacy and sound safety.

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.