OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

Background: and Purpose Vertebrobasilar fusiform aneurysms (VBFAs) carry substantial morbidity and mortality, but optimal management for unruptured VBFAs remains unclear. We compared the safety and efficacy of conservative management (CM), stent-assisted coiling (SAC), and flow diverters (FDs) in patients with unruptured VBFAs, focusing on long-term prognosis. Methods: This study included data from a nationwide Chinese cohort of patients with vertebrobasilar dissecting aneurysms. Inverse probability of treatment weighting (IPTW) balanced confounders across groups. The primary outcome was poor prognosis (modified Rankin Scale score >2). Secondary outcomes included aneurysm rupture, ischemic stroke, compression symptoms, and VBFA-related deaths. Logistic regression estimated odds ratios (ORs) and 95% confidence intervals (CIs). Subgroup and sensitivity analyses were performed. Results: Among 1,115 patients with unruptured VBFAs, 838 (median age, 54 years; 655 men) were included. After IPTW, baseline characteristics were balanced. Median follow-up was 54 months. FD was associated with a lower risk of poor prognosis than CM (OR, 0.48 [95% CI, 0.30 to 0.77]; p=0.002), with no difference between CM and SAC. FD also reduced aneurysm rupture (OR, 0.20 [95% CI, 0.07 to 0.60]; p=0.004) and compression symptoms (OR, 0.30 [95% CI, 0.13 to 0.68]; p=0.004) versus CM. Time-to-event analyses further revealed significant differences in vertebral artery lesions and Type I–II VBFAs, whereas no significant differences were observed in basilar or vertebrobasilar junction lesions or in Type III–IV VBFAs. Conclusions Compared with CM, FD was associated with improved long-term outcomes in unruptured VBFAs, particularly in vertebral artery lesions and Type I–II VBFAs, although residual confounding cannot be excluded.

This study aims to describe the population and regional distribution characteristics of smoking behavior among adult twins in the China Twin Registry (CNTR), as well as the concordance rates for smoking behavior in monozygotic and dizygotic twins, and estimate the heritability. The study population included adult twins in CNTR who had smoking questionnaire data. A random-effects regression model was used to describe the distribution of smoking behavior among different subgroups based on various characteristics. The concordance of smoking behavior between different zygosity groups was calculated, and heritability was estimated. A total of 28 444 twin pairs were included in this study, with an average age of (36.6±12.0) years. Among male twins, 41.2% were current smokers, while only 1.2% of females smoked. Higher smoking rates were observed among male smokers in the 50-59 age group ( z=23.0, P<0.001), northern regions ( z=2.9, P<0.01), rural areas ( z=-5.2, P<0.001), those who were divorced/widowed ( z=3.8, P<0.001), and first-born twins ( z=-4.3, P<0.001), while lower smoking rates were found in those with higher education ( z=-16.1, P<0.001) and unmarried individuals ( z=-16.0, P<0.001). The smoking concordance rate for male monozygotic twins was 69.6%, significantly higher than the 57.3% concordance rate for dizygotic twins ( χ 2=105.0, P<0.05). The heritability of smoking behavior in male twins was estimated at 28.9% (95% CI: 24.3%-33.4%). Stratified analyses showed differences in heritability across regions and age groups: the heritability in northern regions was 32.6% (95% CI: 27.3%-38.0%), higher than the 21.0% (95% CI: 12.4%-29.5%) observed in southern regions; the highest heritability of 35.1% (95% CI: 26.3%-43.9%) was found in the 18-29 age group, with heritability decreasing with age. In conclusion, the smoking rate and influencing factors in the twin population are similar to those in the general population, with unique characteristics, such as higher smoking rates in first-born twins. Genetic factors have a significant impact on smoking behavior.

Objective To explore the effect of young plasma intraperitoneal injection on the fertility and ovarian function of aging mice and analyze its potential molecular mechanism.Methods Fifty-four-week-old female C57BL/6 mice and 8-week-old male C57BL/6 mice were selected.Among them,the female mice were randomly divided into three groups:the young plasma group,the aging plasma group and the normal saline group.The young plasma group and the aging plasma group received intraperitoneal injection of plasma from young(25-29 years old)and elderly(45-49 years old)female donors,respectively.Each injection was 500 μL,administered every other day for 2 weeks.The saline group received an equal volume of saline.After the last injection,mating experiments were conducted to evaluate fertility.Ovarian histopathological changes were observed by HE staining.Oocytes and fertilized eggs were collected after superovulation and cultured in vitro to assess oocyte quality and embryo developmental potential.Transcriptomic analysis of ovarian tissue was performed,followed by KEGG and GO enrichment analysis.Results Compared with the normal saline group and the aging plasma group,the number of offspring increased in the young plasma group,which reflected higher extrusion rate of first polar body(PB1),decreased fragmentation rate of oocytes and increased conversion rate of two-cell embryos and increased formation rate of blastocysts.There were no significant differences in these indicators between the aging plasma group and the normal saline group.Transcriptomic sequencing revealed that the differentially expressed genes in ovarian tissue of the young plasma group were mainly involved in steroid biosynthesis and metabolic pathways.Among them,the expression level of steroid sulfatase protein was significantly upregulated.Conclusion Systemic infusion of young plasma enhances the reproductive potential of aging ovaries in elderly mice.The sulfated steroid metabolites in plasma may be key substances in restoring ovarian function and delaying the process of ovarian aging.

Objective:To investigate the current status of knowledge, attitude, and practice in career planning among medical students and its influencing factors, and to facilitate the education of medical career planning.Methods:The convenience sampling method was used to distribute a self-made questionnaire, and related data were gathered from 295 medical students in Wuhan, China. SPSS 26.0 was used to perform analyses of related categorical variables, including descriptive statistics, univariate tests, rank-sum tests, and the binary logistic regression analysis.Results:The results showed that the medical students with good performance of career planning knowledge, attitude, and practice accounted for 68.48%, 87.12%, and 54.92%, respectively. Major, grade, professional satisfaction, and professional learning objectives were influencing factors for career planning knowledge among the medical students ( P<0.05); the intention for laboratory participation, the basis for major selection, and professional learning objectives were influencing factors for career planning attitude ( P<0.05); grade, internship experience, and professional learning objectives were influencing factors for career planning practice ( P<0.05). Conclusions:Related measures should be adopted to strengthen career planning education for medical talents, such as perfecting the whole-process and multi-agent career planning guidance system, stimulating the enthusiasm of students, and clarifying professional learning objectives.

This study aims to describe the population and regional distribution characteristics of smoking behavior among adult twins in the China Twin Registry (CNTR), as well as the concordance rates for smoking behavior in monozygotic and dizygotic twins, and estimate the heritability. The study population included adult twins in CNTR who had smoking questionnaire data. A random-effects regression model was used to describe the distribution of smoking behavior among different subgroups based on various characteristics. The concordance of smoking behavior between different zygosity groups was calculated, and heritability was estimated. A total of 28 444 twin pairs were included in this study, with an average age of (36.6±12.0) years. Among male twins, 41.2% were current smokers, while only 1.2% of females smoked. Higher smoking rates were observed among male smokers in the 50-59 age group ( z=23.0, P<0.001), northern regions ( z=2.9, P<0.01), rural areas ( z=-5.2, P<0.001), those who were divorced/widowed ( z=3.8, P<0.001), and first-born twins ( z=-4.3, P<0.001), while lower smoking rates were found in those with higher education ( z=-16.1, P<0.001) and unmarried individuals ( z=-16.0, P<0.001). The smoking concordance rate for male monozygotic twins was 69.6%, significantly higher than the 57.3% concordance rate for dizygotic twins ( χ 2=105.0, P<0.05). The heritability of smoking behavior in male twins was estimated at 28.9% (95% CI: 24.3%-33.4%). Stratified analyses showed differences in heritability across regions and age groups: the heritability in northern regions was 32.6% (95% CI: 27.3%-38.0%), higher than the 21.0% (95% CI: 12.4%-29.5%) observed in southern regions; the highest heritability of 35.1% (95% CI: 26.3%-43.9%) was found in the 18-29 age group, with heritability decreasing with age. In conclusion, the smoking rate and influencing factors in the twin population are similar to those in the general population, with unique characteristics, such as higher smoking rates in first-born twins. Genetic factors have a significant impact on smoking behavior.

Objective To investigate the effects of different cultivation method and harvest periods on chromatic characteristics and the primary bioactive components of Dendrobium officinale.Methods Fifteen batches of three-year-old Dendrobium officinale were categorized into five cultivation groups:DP-ZP,YB-ZP,HS-ZP,SP-ZP,and ZJ-ZP,with three batches per group.Thirty-six batches of Dendrobium officinale samples were categorized into twelve harvest groups according to different harvest periods and growth years:the T1 to T6 groups were three-year-old samples,and the F1 to F6 groups were four-year-old samples.Chromaticity values of Dendrobium officinale under different cultivation methods and harvest periods were measured using colorimetry.Polysaccharide content under different cultivation method and harvest periods was quantified via ultraviolet spectrophotometry.Mannose,glucose,flavonoids,and phenolic acids(rutin,quercetin,naringenin,and syringic acid)were analyzed in each group under different cultivation methods and harvest periods using HPLC.The total amount of mannose and glucose,the peak area ratio of mannose to glucose,and the total amount of flavonoids and phenolic acids were calculated.The entropy weight-TOPSIS method was applied to assign objective weights to indicators,followed by the calculation of relative closeness(C)for comprehensive quality assessment of medicinal materials.Results Under different cultivation methods,compared with the DP-ZP group,the b? value of the ZJ-ZP and YB-ZP groups decreased,whereas that of the SP-ZP group increased.The L? value and polysaccharide,syringic acid,naringenin,and quercetin contents decreased,whereas the a? value increased in the YB-ZP,SP-ZP,HS-ZP,and ZJ-ZP groups.The mannose contents decreased in the HS-ZP and SP-ZP groups and increased in the ZJ-ZP group(P<0.05).The glucose content in the ZJ-ZP and SP-ZP groups decreased,the peak area ratio of mannose to glucose increased(P<0.05).Compared with the SP-ZP group,the mannose and glucose contents and the total amount of mannose and glucose were significantly increased,and the peak area ratio of mannose to glucose was decreased in the DP-ZP,YB-ZP,HS-ZP,and ZJ-ZP groups(P<0.01).Compared with the ZJ-ZP group,the rutin contents and the total amount of flavonoids and phenolic acids were decreased in the SP-ZP,HS-ZP,DP-ZP,and YB-ZP groups(P<0.05).Compared with the T3 group,the L? value of the T1,T2,T5,and T6 groups decreased,whereas the b? value increased.The a? value and the peak area ratio of mannose to glucose increased in the T1,T2,and T4 to T6 groups,whereas the polysaccharide and glucose contents and the total amount of mannose and glucose decreased(P<0.05).Compared with the T5 group,the mannose content in the T1 to T4 and T6 groups decreased,whereas the rutin content increased in the T1 to T4 groups(P<0.05).Compared with the T6 group,the syringic acid and quercetin contents increased in the T1 to T5 groups,and the total amount of flavonoids and phenolic acids increased in the T1 to T4 group(P<0.05).Compared with the F1 group,the syringic acid content in the F2 to F6 group increased,the quercetin content decreased(P<0.01).Compared with the F2 group,the glucose and rutin content and the total amount of flavonoids and phenolic acids decreased in the F1 and F3 to F6 groups(P<0.01).Compared with the F3 group,the L? value decreased,the b? value increased,mannose content and the total amount of mannose and glucose decreased in the F1,F2,and F4 to F6 groups.Polysaccharide content in the F1 and F4 to F6 groups decreased(P<0.05).Compared with the F6 group,the peak area ratio of mannose to glucose was significantly decreased in the F1 to F4 groups(P<0.01).Entropy weight-TOPSIS analysis showed that the C of chromatic characteristics and primary bioactive components in DP-ZP(C=0.661 1)and F5(C=0.538 9)groups were the highest.Conclusion Dendrobium officinale cultivated under greenhouse conditions and four-year-old Dendrobium officinale harvested in February exhibit optimal overall quality.These findings provide an experimental basis for the selection of cultivation method and the optimal harvest period of high-quality Dendrobium officinale.

Objective:To describe the distribution characteristics of alcohol consumption in adult twins in the Chinese National Twin Registry (CNTR), and further explore the influence of genetic factors on alcohol consumption in adult twins.Methods:The subjects of the study were twins registered by CNTR in 11 project areas across China from 2010 to 2018. A total of 56 966 twins (28 483 pairs) aged 18 years and above who answered questions about drinking behavior were included, and the random effect model was used to describe the population and regional distribution characteristics of alcohol consumption. Intra-pair analysis was performed to calculate the concordance rate and heritability of their alcohol consumption.Results:The age of all subjects was (36.6±12.0) years, and current drinkers accounted for 16.6% (9 461/56 966) of all subjects. In men, those aged 50-59 years, those in northern China, those living in rural area, those with low education level and those with high BMI, the proportions of current drinkers were higher. After excluding 468 pairs of twins who had stopped alcohol use and 21 764 pairs of twins who had no drink or had small amount drink, an intra-pair analysis was conducted in 4 929 pairs of same-sex twins, and found that the concordance rate of alcohol consumption was 64.0% (2 059/3 215) in monozygotic twins, and 52.6% (902/1 714) in dizygotic twins, the difference was significant ( P<0.001), and the heritability of alcohol consumption was 24.1% (95% CI: 18.9%- 29.3%). The further stratified analysis found that in southern men, the heritability was highest in those aged 40-49 years (36.1%, 95% CI: 21.6%-50.7%), while in northern men, the heritability was highest in those aged 50-59 years (34.2%, 95% CI: 18.1%-50.3%). Conclusions:In adult twins in China, there were population and regional differences in the distribution of alcohol consumption behavior, and alcohol consumption was influenced by genetic factors, and gender, age and region had potential modifying effects.

Objective To observe the value of prenatal ultrasound graded management of Sylvian fissure for diagnosing fetal lissencephaly.Methods Totally 39 fetuses with MRI diagnosed lissencephaly who underwent prenatal ultrasound examination were retrospectively enrolled and divided into non-graded management group(n=20)and graded management group(n=19)according to prenatal ultrasound examination before or after the application of prenatal ultrasound graded management of Sylvian fissure(i.e.prenatal ultrasound routine screening for fetal Sylvian fissure morphology).The diagnosis of prenatal ultrasound were compared and analyzed between groups,and the diagnostic value of graded management was evaluated.Results Among 20 fetuses in non-graded management group,prenatal ultrasound showed lissencephaly in 4 fetuses,but only other structural abnormalities in 16 fetuses.Then the latter were re-evaluated based on prenatal ultrasound graded management of Sylvian fissure,among which 4 fetuses could not be evaluated since not standard ultrasonic section,2 fetuses with severe hydrocephalus and Sylvian fissure could not be seen,while Sylvian fissure morphology did not match the corresponding gestational week in 4 fetuses,and type Ⅰ(no platform type)and type Ⅴ(Z-shaped)were noticed in 5 and 1 fetus,respectively.In graded management group,prenatal ultrasound indicated 15 fetuses with lissencephaly,including Sylvian fissure morphology did not match the corresponding gestational week in 6 fetuses,type Ⅰ(no platform type),type Ⅲ(linear type)and type Ⅴ(Z-shaped)were detected in 7,1 and 1 fetus,respectively,while no clear diagnosis was obtained in 4 fetuses.Prenatal ultrasound detection rate of fetal lissencephaly in graded management group(15/19,78.95％)was significantly higher than that in non-graded management group(4/20,20.00％)(P＜0.01).Conclusion Based on graded management of Sylvian fissure could improve the efficiency of prenatal ultrasound for diagnosing fetal lissencephaly.

Objective:To investigate the current status of knowledge, attitude, and practice in career planning among medical students and its influencing factors, and to facilitate the education of medical career planning.Methods:The convenience sampling method was used to distribute a self-made questionnaire, and related data were gathered from 295 medical students in Wuhan, China. SPSS 26.0 was used to perform analyses of related categorical variables, including descriptive statistics, univariate tests, rank-sum tests, and the binary logistic regression analysis.Results:The results showed that the medical students with good performance of career planning knowledge, attitude, and practice accounted for 68.48%, 87.12%, and 54.92%, respectively. Major, grade, professional satisfaction, and professional learning objectives were influencing factors for career planning knowledge among the medical students ( P<0.05); the intention for laboratory participation, the basis for major selection, and professional learning objectives were influencing factors for career planning attitude ( P<0.05); grade, internship experience, and professional learning objectives were influencing factors for career planning practice ( P<0.05). Conclusions:Related measures should be adopted to strengthen career planning education for medical talents, such as perfecting the whole-process and multi-agent career planning guidance system, stimulating the enthusiasm of students, and clarifying professional learning objectives.