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

Papillary thyroid carcinoma (PTC) can exhibit lateral neck lymph node metastasis at an early stage. Lateral neck lymph node metastasis is a crucial factor affecting the prognosis of PTC and is an absolute indication for neck lymph node dissection surgery. Additionally, it is a relative contraindication of endoscopic surgery for most medical centers. Therefore, the preoperative identification of lateral neck lymph node metastasis is vital for surgical decision-making and prognosis assessment. Ultrasound, CT, cytology, and clinical features can provide some information on lateral neck lymph node metastasis, but their accuracy does not fully meet clinical needs. Deep learning is a primary method for medical image recognition or feature extraction. In recent years, deep learning-based ultrasound, CT, cytology, conventional clinical parameters, or multimodal models combining these data have been developed and are expected to achieve routine clinical application. With the establishment and sharing of large datasets, automated annotation, algorithm optimization, and resolution of data security issues, deep learning is expected to accurately predict lateral neck lymph node metastasis in PTC. Furthermore, it can be integrated into electronic medical record systems for automated real-time analysis and assist clinical decision-making.

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 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 evaluate the clinical efficacy of endoclip papillaplasty (ECPP) for preventing recurrent choledocholithiasis after endoscopic retrograde cholangiopancreatography (ERCP).Methods:A retrospective analysis was conducted on 1 941 patients who underwent ERCP for choledocholithiasis in Henan Provincial People's Hospital from January 2019 to December 2023. A total of 250 patients who received ECPP were assigned to the ECPP group, while 251 matched controls were selected via 1∶1 year-stratified sampling into the control group. After follow-up, 209 ECPP cases and 190 controls were ultimately included in the analysis. Stone removal success rate, incidence of perioperative complications, and postoperative choledocholithiasis recurrence were compared between the two groups. Univariate and multivariate logistic regression were used to determine the risk factors for choledocholithiasis recurrence after ERCP.Results:Both groups achieved 100.0% stone removal success rate. There was no significant difference in the incidence of intraoperative perforation [0.5% (1/209) VS 1.1% (2/190), χ2=0.01, P=0.934], postoperative hyperamylasemia [21.5% (45/209) VS 17.4% (33/190), χ2=1.10, P=0.295] or post-ERCP pancreatitis [3.8% (8/209) VS 8.1% (9/190), χ2=0.20, P=0.653] between the ECPP group and the control group. The ECPP group showed significantly lower bleeding rate [5.1% (11/209) VS 12.3% (23/190), χ2=5.98, P=0.014] and choledocholithiasis recurrence rate [10.5% (22/209) VS 18.9% (36/190), χ2=5.68, P=0.017] compared with the control group. The multivariate logistic regression identified dilated common bile duct diameter ( OR=1.881, 95% CI: 1.101-3.213, P=0.021) as an independent risk factor for choledocholithiasis recurrence, while being female ( OR=0.482, 95% CI: 0.266-0.875, P=0.016) and ECPP ( OR=0.497, 95% CI:0.278-0.887, P=0.018) were protective factors. Conclusion:ECPP effectively reduces choledocholithiasis recurrence rate and bleeding risk after ERCP. ECPP and being female serve as protective factors for choledocholithiasis recurrence, while dilated bile duct diameter is an independent risk factor.

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 observe the effects of electroacupuncture (EA) at acupoints of Shaoyang meridian on mechanical and thermal pain threshold, TRPV1, CGRP mRNA and TRPV1, p-TRPV1, CGRP protein expressions in TG of CM rats; To explore its mechanism.Methods:Totally 24 SD rats were divided into blank group, model group and EA group according to random number table method, with 8 rats in each group. The blank group did not do any treatment; the model group and the EA group were given intraperitoneal injection of nitroglycerin (10 mg/kg) on the 1st, 3rd, 5th, 7th and 9th day, once a day, for 5 times to prepare migraine rat model; after modeling, the model group was given binding and restraint for 30 min, and the EA group was given binding and restraint for 30 min treatment; the changes of basic mechanical and thermal pain thresholds of rats before and after modeling and intervention were observed, the mRNA expression levels of TRPV1 and CGRP in TG rats were detected by qPCR, and the protein expression levels of TRPV1, p-TRPV1 and CGRP in TG rats were detected by Western blot method.Results:After intervention, compared with the model group, the periorbital and plantar mechanical pain thresholds and plantar thermal pain thresholds in EA group increased ( P<0.05), the TRPV1 and CGRP mRNA expressions in trigeminal ganglion decreased ( P<0.01), the protein expressions of TRPV1, p-TRPV1 and CGRP decreased ( P<0.05). Conclusion:EA at acupoints of Shaoyang meridian can obviously increase the mechanical and thermal pain threshold and improve pain sensitization in CM rats. The mechanism would be related to down-regulating the expression levels of TRPV1 and CGRP mRNA and TRPV1, p-TRPV1 and CGRP protein in the TG of CM rats.

This study aimed to comprehensively examine the association of gallstones, cholecystectomy, and cancer risk. Multivariable logistic regressions were performed to estimate the observational associations of gallstones and cholecystectomy with cancer risk, using data from a nationwide cohort involving 239 799 participants. General and gender-specific two-sample Mendelian randomization (MR) analysis was further conducted to assess the causalities of the observed associations. Observationally, a history of gallstones without cholecystectomy was associated with a high risk of stomach cancer (adjusted odds ratio (aOR)=2.54, 95% confidence interval (CI) 1.50-4.28), liver and bile duct cancer (aOR=2.46, 95% CI 1.17-5.16), kidney cancer (aOR=2.04, 95% CI 1.05-3.94), and bladder cancer (aOR=2.23, 95% CI 1.01-5.13) in the general population, as well as cervical cancer (aOR=1.69, 95% CI 1.12-2.56) in women. Moreover, cholecystectomy was associated with high odds of stomach cancer (aOR=2.41, 95% CI 1.29-4.49), colorectal cancer (aOR=1.83, 95% CI 1.18-2.85), and cancer of liver and bile duct (aOR=2.58, 95% CI 1.11-6.02). MR analysis only supported the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer. This study added evidence to the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer, highlighting the importance of cancer screening in individuals with gallstones.
Humans ; Mendelian Randomization Analysis ; Gallstones/complications* ; Female ; Male ; Cholecystectomy/statistics & numerical data* ; Middle Aged ; Risk Factors ; Aged ; Adult ; Neoplasms/etiology* ; Stomach Neoplasms/epidemiology*

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.

Acute large-vessel occlusive ischemic stroke has high disability and mortality rates，causing a great burden to social economy and health care system. Mechanical thrombectomy has become the standard treatment method for this disease，but some patients still have poor prognosis after successful recanalization of blood vessels，and therefore，it is important to explore the factors that can be used to judge the poor prognosis of patients. Quantitative electroencephalography can quantify and objectively assess the changing process of brain function in patients，and RAPID perfusion parameters based on brain CTP can rapidly quantify the local blood perfusion of brain tissue. This combination of perfusion neuroimaging and electrophysiological activity can quantify the severity of ischemia associated with cerebral infarction and functional damage to neurons. This article reviews the application value of these two methods in the prognostic evaluation of stroke.