1.Diagnosis of Pfeiffer syndrome type Ⅱ using multimodal imaging combined with whole exome sequencing:a case report
Xinru YE ; Xiaohong YANG ; Shengbao PAN ; Yanyi YAO
Chinese Journal of Ultrasonography 2025;34(10):911-913
Pfeiffer syndrome,an extremely rare autosomal dominant disorder in prenatal settings,is caused by pathogenic variants in Fibroblast Growth Factor Receptor 1( FGFR1)or Fibroblast Growth Factor Receptor 2( FGFR2). In this article,a 33-year-old pregnant woman whose fetus was diagnosed with Pfeiffer syndrome type Ⅱ was reported. Initial ultrasound at 23 +1 weeks revealed temporal skull depression and spinal alignment abnormalities. By 29 +3 weeks,subsequent ultrasound identified additional findings:a cloverleaf-shaped skull,midface hypoplasia,elbow joint fusion,and broad thumb/toe deformities. Fetal MRI confirmed cranial deformities and sacral kyphosis. Postpartum,a CT 3D reconstruction demonstrated craniosynostosis and humeroulnar fusion. Whole exome sequencing(WES)identified an FGFR2 pathogenic variant. This case dynamically illustrates the phenotypic evolution of Pfeiffer syndrome type Ⅱ from subtle to classic triads during gestation,highlighting that multimodal imaging combined with WES enables precise diagnosis and facilitates genetic counseling.
2.Diagnosis of Pfeiffer syndrome type Ⅱ using multimodal imaging combined with whole exome sequencing:a case report
Xinru YE ; Xiaohong YANG ; Shengbao PAN ; Yanyi YAO
Chinese Journal of Ultrasonography 2025;34(10):911-913
Pfeiffer syndrome,an extremely rare autosomal dominant disorder in prenatal settings,is caused by pathogenic variants in Fibroblast Growth Factor Receptor 1( FGFR1)or Fibroblast Growth Factor Receptor 2( FGFR2). In this article,a 33-year-old pregnant woman whose fetus was diagnosed with Pfeiffer syndrome type Ⅱ was reported. Initial ultrasound at 23 +1 weeks revealed temporal skull depression and spinal alignment abnormalities. By 29 +3 weeks,subsequent ultrasound identified additional findings:a cloverleaf-shaped skull,midface hypoplasia,elbow joint fusion,and broad thumb/toe deformities. Fetal MRI confirmed cranial deformities and sacral kyphosis. Postpartum,a CT 3D reconstruction demonstrated craniosynostosis and humeroulnar fusion. Whole exome sequencing(WES)identified an FGFR2 pathogenic variant. This case dynamically illustrates the phenotypic evolution of Pfeiffer syndrome type Ⅱ from subtle to classic triads during gestation,highlighting that multimodal imaging combined with WES enables precise diagnosis and facilitates genetic counseling.
3.Effect of Dingkundan in Treatment of Qi Stagnation and Blood Stasis Syndrome in Patients with Chronic Obstructive Pulmonary Disease at Stable Phase
Yanyi LIU ; Zhaoquan YANG ; Jiang MA ; Kun XIA ; Xiaoyan YAO ; Guangxi LI
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(13):128-134
ObjectiveTo explore the effect of Dingkundan on Qi stagnation and blood stasis syndrome in patients with chronic obstructive pulmonary disease (COPD) at a stable phase. MethodA randomized controlled clinical design method was adopted, and 60 patients who were diagnosed with Qi stagnation and blood stasis syndrome in COPD at a stable phase in the outpatient and inpatient departments of the respiratory department of Guang' anmen Hospital of China Academy of Chinese Medical Sciences from June 2019 to December 2019 were divided into observation group and control group according to 1∶1. During the study period, there was no dropout, loss of follow-up, or exclusion between the two groups. On the basis of both groups receiving traditional Chinese medicine (TCM) lung rehabilitation training, the observation group took Dingkundan 7 g/time orally, twice a day. The control group received oral administration of the same specification of Dingkundan starch simulator of 7 g/time, twice a day. Both groups have a treatment period of 12 weeks. The COPD Assessment Test (CAT), modified Medical Research Council (mMRC), fatigue scale-14 (FS-14), self-rating anxiety scale (SAS), self-rating depression scale (SDS), 6-minute walk distance (6MWD), and pulmonary function before and after treatment were evaluated. ResultAfter treatment, both groups showed improvements in CAT, mMRC, FS-14, SAS scores, and 6MWD (P<0.05). The observation group also showed improvements in SDS scores and lung function indicators (P<0.05). Compared with the control group after treatment, the observation group showed more significant improvement in CAT, FS-14, SAS, SDS scores, and 6MWD (P<0.05). ConclusionDingkundan has a clear therapeutic effect on Qi stagnation and blood stasis syndrome in patients with COPD at a stable phase. It can reduce symptom burden, enhance exercise capacity, and improve psychological status and has the potential to improve lung function.
4.Effects of erianin on the apoptosis of ovarian granulosa cells in rats with polycystic ovary syndrome and its mechanism
Lina FANG ; Yanyi LI ; Chao DONG ; Lili XU ; Zhaosong SHI ; Yuedong LI ; Bo YANG ; Zaichao XU
China Pharmacy 2024;35(11):1339-1344
OBJECTIVE To investigate the effects of erianin (ERI) on the apoptosis of ovarian granulosa cells in rats with polycystic ovary syndrome (PCOS) and its mechanism. METHODS PCOS rat model was constructed by subcutaneous injection of dehydroepiandrosterone, and the successfully constructed rats were randomly divided into PCOS group, ERI low-dose, medium- dose and high-dose groups (10, 20, 40 mg/kg) and ERI high dose + verteporfin group (40 mg/kg ERI + 10 mg/kg verteporfin), with 10 rats in each group. Another 10 normal rats were selected as the normal group. Rats in each administration group were given corresponding dose of ERI and/or intraperitoneal injection of vitiporfin, and rats in the PCOS group and normal group were orally administered an equal volume of 1% dimethyl sulfoxide, once a day, for 6 consecutive weeks. After administration, the body weight, fasting blood glucose (FPG), serum levels of estradiol (E2), testosterone (T), follicle stimulating hormone (FSH) and luteinizing hormone (LH) were detected in each group; morphological changes in ovarian tissue were observed, and the apoptosis of ovarian tissue cells was analyzed. Apoptosis-associated proteins [B-cell lymphoma-2 (Bcl-2), Bcl-2 associated X protein (Bax), Caspase-3] and Hippo-YAP signaling pathway associated proteins [large tumor suppressor kinase 1 (LATS1), phosphorylated LATS1 (p-LATS1) and Yes associated protein (YAP), phosphorylated YAP (p-YAP), transcriptional co-activator with PDZ binding motif (TAZ)] were detected in ovarian tissue. RESULTS Compared with PCOS group, the ovarian polycystic characteristics of the ERI low-dose, medium-dose,and high-dose groups were reduced, the number of atretic follicles was reduced, and the granulosa cell layer was thickened; the body mass, FPG, T, LH, LH/FSH, the number of cystic follicles, cell apoptosis index, protein expressions of Bax, Caspase-3, p-LATS1 and p-YAP were greatly decreased (P<0.05); the number of corpus luteum, protein expressions of E2, Bcl-2, LATS1, YAP and TAZ were greatly increased (P<0.05). Compared with ERI high-dose group, the above indexes in ERI high-dose + vitiporfin group were inhibited (P<0.05). CONCLUSIONS ERI can promote the proliferation of ovarian granulosa cells and improve the level of sex hormones in PCOS rats, and its mechanism of action may be related to the inhibition of the Hippo-YAP signaling pathway.
5.Effects of erianin on the apoptosis of ovarian granulosa cells in rats with polycystic ovary syndrome and its mechanism
Lina FANG ; Yanyi LI ; Chao DONG ; Lili XU ; Zhaosong SHI ; Yuedong LI ; Bo YANG ; Zaichao XU
China Pharmacy 2024;35(11):1339-1344
OBJECTIVE To investigate the effects of erianin (ERI) on the apoptosis of ovarian granulosa cells in rats with polycystic ovary syndrome (PCOS) and its mechanism. METHODS PCOS rat model was constructed by subcutaneous injection of dehydroepiandrosterone, and the successfully constructed rats were randomly divided into PCOS group, ERI low-dose, medium- dose and high-dose groups (10, 20, 40 mg/kg) and ERI high dose + verteporfin group (40 mg/kg ERI + 10 mg/kg verteporfin), with 10 rats in each group. Another 10 normal rats were selected as the normal group. Rats in each administration group were given corresponding dose of ERI and/or intraperitoneal injection of vitiporfin, and rats in the PCOS group and normal group were orally administered an equal volume of 1% dimethyl sulfoxide, once a day, for 6 consecutive weeks. After administration, the body weight, fasting blood glucose (FPG), serum levels of estradiol (E2), testosterone (T), follicle stimulating hormone (FSH) and luteinizing hormone (LH) were detected in each group; morphological changes in ovarian tissue were observed, and the apoptosis of ovarian tissue cells was analyzed. Apoptosis-associated proteins [B-cell lymphoma-2 (Bcl-2), Bcl-2 associated X protein (Bax), Caspase-3] and Hippo-YAP signaling pathway associated proteins [large tumor suppressor kinase 1 (LATS1), phosphorylated LATS1 (p-LATS1) and Yes associated protein (YAP), phosphorylated YAP (p-YAP), transcriptional co-activator with PDZ binding motif (TAZ)] were detected in ovarian tissue. RESULTS Compared with PCOS group, the ovarian polycystic characteristics of the ERI low-dose, medium-dose,and high-dose groups were reduced, the number of atretic follicles was reduced, and the granulosa cell layer was thickened; the body mass, FPG, T, LH, LH/FSH, the number of cystic follicles, cell apoptosis index, protein expressions of Bax, Caspase-3, p-LATS1 and p-YAP were greatly decreased (P<0.05); the number of corpus luteum, protein expressions of E2, Bcl-2, LATS1, YAP and TAZ were greatly increased (P<0.05). Compared with ERI high-dose group, the above indexes in ERI high-dose + vitiporfin group were inhibited (P<0.05). CONCLUSIONS ERI can promote the proliferation of ovarian granulosa cells and improve the level of sex hormones in PCOS rats, and its mechanism of action may be related to the inhibition of the Hippo-YAP signaling pathway.
6.Research progress on effect of air pollution on depression and potential mechanisms
Jingyu LI ; Wenhui YANG ; Yanyi XU
Journal of Environmental and Occupational Medicine 2024;41(4):457-465
Air pollution is a global issue that threatens human health. In recent years, more and more studies have found that air pollution is closely related to the occurrence of depression. As a serious neuropsychiatric disorder whose incidence is rising rapidly year by year, depression has become an invisible killer of public health. At present, studies on the correlation between air pollution and depression are still very limited, and the underlying molecular mechanisms by which air pollution affects depression are not clear. Based on existing epidemiological and toxicological studies, this paper provided a review of the relationship between air pollution and depression and the possible biological mechanisms, with a focus on the relationship between air pollution and depression indicators and the possible factors affecting depression such as types of air pollutants, exposure time, age and health status of study subjects. In addition, the potential roles of neuroinflammation, oxidative stress, neurogenesis, and apoptosis in the process of air pollution-induced depression were also discussed in order to provide a scientific basis for the prevention and treatment of air pollution-induced depression.
7.Clinical characteristics and pregnancy outcomes of multifetal pregnancy reduction: a 12-year cohort study
Li LI ; Yanyi LI ; Rui YANG ; Mengjie FAN ; Shuo YANG ; Jia LI ; Ying SONG ; Ningning PAN ; Tian TIAN ; Caihong MA ; Rong LI ; Ping LIU ; Jie QIAO
Chinese Journal of Reproduction and Contraception 2024;44(8):784-790
Objective:To analyze the clinical characteristics, pregnancy outcomes and factors affecting live birth of patients undergoing multifetal pregnancy reduction (MFPR), in order to provide reference for clinical strategies.Methods:A retrospective cohort study was conducted on all patients who underwent multifetal pregnancy reduction among polychorionic multifetal pregnancy patients at the Center for Reproductive Medicine, Department of Obstetrics and Gynecology of Peking University Third Hospital during a period of 12 years from January 1, 2009 to December 31, 2020. The overall and annual clinical characteristics were analyzed, pregnancy outcomes were followed up. Patients were divided into live birth group ( n=1 555) and not live birth group ( n=205), and factors affecting live birth were analyzed by multivariate logistic. Through further subgroup analysis, multiple pregnancies were divided into three subgroups: dichorionic diamniotic twin, triplet pregnancy, and four or more high sequence multiple pregnancy. Results:A total of 1 925 patients who underwent MFPR were included, and 1 760 pregnancy outcomes were followed up. In the past 12 years, there had been an increase in dizygotic twins, and the proportion of transabdominal fetal reduction had significantly increased, from 3% in 2009 to 77% in 2020. The annual live birth rate of reduction patients fluctuated between 83% and 94%. The live birth rate of patients with MFPR was related with the type of multiple pregnancies, the method of reducing pregnancies, and the number of retained embryos. The live birth rate of four or more high sequence multiple pregnancies [75.8% (72/95)] was lower than that of dichorionic diamniotic twins [90.0% (796/884), P<0.001], the dichorionic diamniotic twins [89.9% (241/268), P<0.001], the trichorionic triamniotic triplet pregnancy [86.9% (446/513), P=0.005]. The live birth rate of transabdominal fetal reduction [91.4% (655/717)] was higher than that of transvaginal fetal reduction with fetal cardiac activity area injection of KCl [84.9% (304/358), P=0.001], and vaginal embryo aspiration [87.0% (596/685), P=0.009]. There was no statistically significant difference in the live birth rate between vaginal KCl injection and vaginal aspiration ( P=0.351). The survival rate of patients with retained singletons [89.7% (1 062/1 184)] was higher than that of patients with retained twins [85.6% (493/576), P=0.012]. After adjusting for confounding factors such as age, assisted pregnancy method, type of multiple pregnancies, and number of retained embryos, transabdominal fetal reduction was an independent protective factor for live birth rate ( P=0.040, OR=1.604, 95% CI: 1.021-2.519). Conclusion:With the change of transplantation strategy, the proportion of dichorionic diamniotic twins increased, and the proportion of transabdominal fetal reduction increased, which pregnancy outcomes might be better. There was no difference in pregnancy outcomes between those who underwent vaginal aspiration and transvaginal fetal reduction with fetal cardiac activity area injection of KCl. The outcomes of four or more high sequence multiple pregnancies were poor, and it was necessary to strictly control the number of embryo transfers and optimize ovulation promotion plans in clinical practice.
8.Clinical characteristics and pregnancy outcomes of multifetal pregnancy reduction: a 12-year cohort study
Li LI ; Yanyi LI ; Rui YANG ; Mengjie FAN ; Shuo YANG ; Jia LI ; Ying SONG ; Ningning PAN ; Tian TIAN ; Caihong MA ; Rong LI ; Ping LIU ; Jie QIAO
Chinese Journal of Reproduction and Contraception 2024;44(8):784-790
Objective:To analyze the clinical characteristics, pregnancy outcomes and factors affecting live birth of patients undergoing multifetal pregnancy reduction (MFPR), in order to provide reference for clinical strategies.Methods:A retrospective cohort study was conducted on all patients who underwent multifetal pregnancy reduction among polychorionic multifetal pregnancy patients at the Center for Reproductive Medicine, Department of Obstetrics and Gynecology of Peking University Third Hospital during a period of 12 years from January 1, 2009 to December 31, 2020. The overall and annual clinical characteristics were analyzed, pregnancy outcomes were followed up. Patients were divided into live birth group ( n=1 555) and not live birth group ( n=205), and factors affecting live birth were analyzed by multivariate logistic. Through further subgroup analysis, multiple pregnancies were divided into three subgroups: dichorionic diamniotic twin, triplet pregnancy, and four or more high sequence multiple pregnancy. Results:A total of 1 925 patients who underwent MFPR were included, and 1 760 pregnancy outcomes were followed up. In the past 12 years, there had been an increase in dizygotic twins, and the proportion of transabdominal fetal reduction had significantly increased, from 3% in 2009 to 77% in 2020. The annual live birth rate of reduction patients fluctuated between 83% and 94%. The live birth rate of patients with MFPR was related with the type of multiple pregnancies, the method of reducing pregnancies, and the number of retained embryos. The live birth rate of four or more high sequence multiple pregnancies [75.8% (72/95)] was lower than that of dichorionic diamniotic twins [90.0% (796/884), P<0.001], the dichorionic diamniotic twins [89.9% (241/268), P<0.001], the trichorionic triamniotic triplet pregnancy [86.9% (446/513), P=0.005]. The live birth rate of transabdominal fetal reduction [91.4% (655/717)] was higher than that of transvaginal fetal reduction with fetal cardiac activity area injection of KCl [84.9% (304/358), P=0.001], and vaginal embryo aspiration [87.0% (596/685), P=0.009]. There was no statistically significant difference in the live birth rate between vaginal KCl injection and vaginal aspiration ( P=0.351). The survival rate of patients with retained singletons [89.7% (1 062/1 184)] was higher than that of patients with retained twins [85.6% (493/576), P=0.012]. After adjusting for confounding factors such as age, assisted pregnancy method, type of multiple pregnancies, and number of retained embryos, transabdominal fetal reduction was an independent protective factor for live birth rate ( P=0.040, OR=1.604, 95% CI: 1.021-2.519). Conclusion:With the change of transplantation strategy, the proportion of dichorionic diamniotic twins increased, and the proportion of transabdominal fetal reduction increased, which pregnancy outcomes might be better. There was no difference in pregnancy outcomes between those who underwent vaginal aspiration and transvaginal fetal reduction with fetal cardiac activity area injection of KCl. The outcomes of four or more high sequence multiple pregnancies were poor, and it was necessary to strictly control the number of embryo transfers and optimize ovulation promotion plans in clinical practice.
9.Experts consensus on standard items of the cohort construction and quality control of temporomandibular joint diseases (2024)
Min HU ; Chi YANG ; Huawei LIU ; Haixia LU ; Chen YAO ; Qiufei XIE ; Yongjin CHEN ; Kaiyuan FU ; Bing FANG ; Songsong ZHU ; Qing ZHOU ; Zhiye CHEN ; Yaomin ZHU ; Qingbin ZHANG ; Ying YAN ; Xing LONG ; Zhiyong LI ; Yehua GAN ; Shibin YU ; Yuxing BAI ; Yi ZHANG ; Yanyi WANG ; Jie LEI ; Yong CHENG ; Changkui LIU ; Ye CAO ; Dongmei HE ; Ning WEN ; Shanyong ZHANG ; Minjie CHEN ; Guoliang JIAO ; Xinhua LIU ; Hua JIANG ; Yang HE ; Pei SHEN ; Haitao HUANG ; Yongfeng LI ; Jisi ZHENG ; Jing GUO ; Lisheng ZHAO ; Laiqing XU
Chinese Journal of Stomatology 2024;59(10):977-987
Temporomandibular joint (TMJ) diseases are common clinical conditions. The number of patients with TMJ diseases is large, and the etiology, epidemiology, disease spectrum, and treatment of the disease remain controversial and unknown. To understand and master the current situation of the occurrence, development and prevention of TMJ diseases, as well as to identify the patterns in etiology, incidence, drug sensitivity, and prognosis is crucial for alleviating patients′suffering.This will facilitate in-depth medical research, effective disease prevention measures, and the formulation of corresponding health policies. Cohort construction and research has an irreplaceable role in precise disease prevention and significant improvement in diagnosis and treatment levels. Large-scale cohort studies are needed to explore the relationship between potential risk factors and outcomes of TMJ diseases, and to observe disease prognoses through long-term follw-ups. The consensus aims to establish a standard conceptual frame work for a cohort study on patients with TMJ disease while providing ideas for cohort data standards to this condition. TMJ disease cohort data consists of both common data standards applicable to all specific disease cohorts as well as disease-specific data standards. Common data were available for each specific disease cohort. By integrating different cohort research resources, standard problems or study variables can be unified. Long-term follow-up can be performed using consistent definitions and criteria across different projects for better core data collection. It is hoped that this consensus will be facilitate the development cohort studies of TMJ diseases.
10.Mitral annular calcification score based on cardiac plain CT for predicting intraoperative surgical procedure change of mitral regurgitation
Jie HOU ; Yu SUN ; Libo ZHANG ; Yanyi WANG ; Junhui LI ; Benqiang YANG
Chinese Journal of Interventional Imaging and Therapy 2024;21(12):737-741
Objective To observe the value of mitral annular calcification(MAC)score based on cardiac plain CT for predicting intraoperative surgical procedure change of mitral regurgitation(MR).Methods Totally 182 MR patients were retrospectively enrolled and divided into MAC group(n=57)and non MAC group(n=125)based on the presence or not of MAC,and clinical and imaging data were compared between groups.Logistic regression analysis was used to observe the impact factors of surgical procedure change.The receiver operating characteristic curve was drawn,the area under the curve(AUC)was calculated to explore the efficacy of MAC score for predicting surgical procedure change.Results Significant differences of the proportions of hypertension,atrial fibrillation(AF),mitral valve repair,mitral valve replacement,aortic valve replacement,tricuspid valve repair and surgical procedure change,as well as of admission left atrial diameter(LAD),admission left ventricular end-diastolic volume(LVEDV),admission left ventricular ejection fraction(LVEF),aortic valve stenosis,aortic regurgitation,the proportion of mitral stenosis(MS)and follow-up LAD were found between MAC group and non MAC group(all P<0.05).Then the patients were divided into surgical procedure change group(n=50)and non-change group(n=132),and significant differences of patients'gender,AF,MAC,MAC score,admission LAD,aortic valve stenosis,MS and MR degree were found between surgical procedure change group and non-change group(all P<0.05).MAC score was an independent impact factor of intraoperative surgical procedure change of MR(P<0.001),with AUC of 0.757.Conclusion MAC score based on cardiac plain CT could be used to predict intraoperative surgical procedure change of MR.

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