1.Research Progress on Short Stature Accompanied by Disorders of Sex Development
Xinran GONG ; Huifang PENG ; Jiali CHEN ; Hongwei JIANG
Medical Journal of Peking Union Medical College Hospital 2026;17(2):476-483
Short stature(SS) and disorder of sex development(DSD) are two types of conditions characterized by high clinical heterogeneity and complex etiology. There is interplay and mutual influence between the pathways regulated by growth hormone and sex hormones in skeletal and gonadal development. Causing co-occurrence of SS and DSD, as seen in conditions such as Turner syndrome, mixed gonadal dysgenesis, Noonan syndrome, and Prader-Willi syndrome. Patients with these disorders are often accompanied by distinctive facial features, endocrine and metabolic disturbances, cardiovascular disease, and other systemic complications. Genetic factors involved include chromosomal numerical and structural abnormalities; mutations in genes such as SHOX, CHD7, SOX8, and PTPN11, dysregulation of the RAS/mitogen activated protein kinase signaling pathway, and defects in imprinted genes. This article aims to systematically review the relevant research progress, in order to provide a reference for the clinical diagnosis and treatment strategies of patients with coexisting SS and DSD.
2.Inhibition of YAP1 increases abundance of intestinal AKK bacteria and improves mechanism of PD-1 monoclonal antibody-related liver damage
Junlan LU ; Yi GONG ; Yuman ZHANG ; Yuting GAO ; Yanguang YANG ; Hua LIANG ; Yuan YUE ; Jiali YANG ; Xinli SHI
Chinese Journal of Immunology 2025;41(3):540-544,550
Objective:To investigate the mechanism of improving liver injury by enhancing the abundance of Akkermansia mu-ciniphila(AKK bacteria)with hepatocyte-specific Yap1 knockout during PD-1 monoclonal antibody treatment.Methods:Hepatocyte-specific Yap1 knockout mice(genotype Yap1Flox/Flox;albumin-Cre,labeled as Yap1LKO)and control mice(genotype Yap1Flox/Flox,labeled Yap1Flox),aristolocholic acidⅠ(AAⅠ)and CCl4 were used to induce liver injury,Yap1LKO mice and Yap1Flox mice were randomly di-vided into control group and PD-1 monoclonal antibody group.After the intervention,real-time PCR detected changes in the abun-dance of AKK bacteria in the fecal microbial DNA of mice,16S rRNA gene sequencing further analyzes intestinal flora changes,the livers of mice were made into wax blocks for HE staining to observe the histopathological changes of the liver.Results:Yap1Flox mice exhibited balloon-like edema degeneration of hepatocytes and infiltration of inflammatory factors in the manifold area,compared with Yap1Flox mice,Yap1LKO mice had reduced the abundance of AKK bacteria in the intestine,fibrosis of the liver,and the degree of dam-age was more serious;PD-1 monoclonal antibody treatment alone did not increase the abundance of AKK bacteria in the intestines of mice,and fibrosis appeared in the liver;however,the abundance of intestinal AKK bacteria in Yap1LKO mice treated with PD-1 mono-clonal antibody increased,the ratio(F/B value)of Firmicutes to Bacteroides at the phylum level decreased,and the morphology of he-patocytes returned to normal and the degree of liver damage decreased.Conclusion:In AAⅠ and CCl4 induced liver injury mice,he-patocyte-specific Yap1 knockout reduced the abundance of AKK bacteria in the intestine,and the degree of liver injury was more se-vere than that in Yap1Flox mice.When treated with PD-1 monoclonal antibody,hepatocyte-specific Yap1 knockout could increase the abundance of AKK bacteria in the intestine,change the composition of intestinal flora,maintain intestinal homeostasis and ameliorate liver injury.
3.Analysis of national external quality assessment results for transfusion compatibility test, 2018 to 2023
Junhua HU ; Peng ZHANG ; Jiali LIU ; Zhiguo WANG ; Yanming LIU ; Shengchen TIAN ; Wanru MA ; Xiang LI ; Xuebin ZHAO ; Feng XUE ; Yuntian WANG ; Dong LIN ; Zheng SUN ; Jiwu GONG ; Lin ZHOU
Chinese Journal of Blood Transfusion 2025;38(12):1720-1727
Objective: To analyze the results of national external quality assessment (EQA) for transfusion compatibility test from 2018 to 2023, with the aim of providing references for improving laboratory testing quality and ensuring the safety of clinical blood transfusion. Methods: Three EQA programs were conducted annually, each distributing 22 quality assessment samples. Participating transfusion laboratories were required to complete testing within specified deadlines and to submit results along with documentation of testing methodologies, reagents, and equipment used. National Center for Clinical Laboratories (NCCL) conducted statistical analysis of laboratory results, evaluated testing outcomes and related circumstances, and provided feedback to participating laboratories. EQA data from transfusion laboratories across China from 2018 to 2023 were collected and systematically analyzed. Results: From 2018 to 2023, the qualification rates for all five items (ABO forward typing, ABO reverse typing, Rh blood group typing, antibody screening, and cross-matching) were 67.59%, 77.11%, 77.38%, 72.78%, 79.96%, and 85.16%, respectively. The mean qualification rates for ABO forward typing, ABO reverse typing, RhD blood group typing, antibody screening, and cross-matching over the past six years were 96.25%±0.59%, 90.45%±4.52%, 96.05%±0.71%, 90.88%±2.86%, and 88.34%±3.48%, respectively. The qualification rates in 2019, 2020, 2022, and 2023 all showed a stable trend of "blood stations>tertiary hospitals>secondary hospitals". The mean qualification rate of laboratories in secondary hospitals from 2018 to 2023 was significantly lower than those of laboratories in tertiary hospitals and blood stations (P<0.05), while no significant difference was observed between laboratories in tertiary hospitals and blood stations (P>0.05). The micro column agglutination method was the most widely used in all five tests. In the four test items, namely ABO forward typing, ABO reverse typing, antibody screening, and cross-matching, there was a statistically significant difference in the qualification rate of micro column agglutination method compared to other methods (P<0.05). There was a statistical difference in the qualification rate between manual and automated detection using micro column agglutination method in the cross-matching tests (P<0.05), whereas no significant difference was noted for the other test items (P>0.05). Conclusion: From 2018 to 2023, the number of laboratories participating in EQA activities has been increasing year by year, and the qualification rate has shown an overall upward trend. The type of laboratory is a key factor affecting the qualification rate, and the testing capabilities of some laboratories still need to be improved. The micro column agglutination method is widely used in transfusion compatibility tests. The established EQA program effectively monitors quality issues in laboratories, drives continuous improvement, and ensures sustained enhancement of testing standards to safeguard clinical blood safety.
4.Proton pump inhibitor pantoprazole promotes colonization of Helicobacter pylori Sydney strain 1 in the mouse stomach
Shuo YAN ; Xue LI ; Chao WANG ; Jiali XU ; Yu CHENG ; Liping ZHANG ; Lei SU ; Jianan GONG
Chinese Journal of Comparative Medicine 2025;35(2):24-32
Objective To explore method for improving the colonization efficiency of Helicobacter pylori(Hp)in the mouse stomach and to determine if the proton pump inhibitor(PPI)pantoprazole can act as a colonization adjuvant to enhance Hp colonization,with the aim of providing an effective tool for establishing an Hp infection mouse model.Methods The Hp Sydney strain 1(SS1)was introduced and solid plate and liquid culture systems were established.The effects of different doses of pantoprazole on gastric acid secretion in mice were compared.The impact of Hp inoculation,alone or combined with pantoprazole pretreatment,on Hp colonization efficiency was analyzed using rapid urease tests,bacterial plate cultures,and TaqMan quantitative polymerase chain reaction.Results PPI pretreatment inhibited gastric acid secretion and promoted Hp colonization in the mouse stomach,to some extent.Conclusions PPI can serve as colonization adjuvants to enhanc e the efficiency of constructing Hp infection mouse models.
5.Proton pump inhibitor pantoprazole promotes colonization of Helicobacter pylori Sydney strain 1 in the mouse stomach
Shuo YAN ; Xue LI ; Chao WANG ; Jiali XU ; Yu CHENG ; Liping ZHANG ; Lei SU ; Jianan GONG
Chinese Journal of Comparative Medicine 2025;35(2):24-32
Objective To explore method for improving the colonization efficiency of Helicobacter pylori(Hp)in the mouse stomach and to determine if the proton pump inhibitor(PPI)pantoprazole can act as a colonization adjuvant to enhance Hp colonization,with the aim of providing an effective tool for establishing an Hp infection mouse model.Methods The Hp Sydney strain 1(SS1)was introduced and solid plate and liquid culture systems were established.The effects of different doses of pantoprazole on gastric acid secretion in mice were compared.The impact of Hp inoculation,alone or combined with pantoprazole pretreatment,on Hp colonization efficiency was analyzed using rapid urease tests,bacterial plate cultures,and TaqMan quantitative polymerase chain reaction.Results PPI pretreatment inhibited gastric acid secretion and promoted Hp colonization in the mouse stomach,to some extent.Conclusions PPI can serve as colonization adjuvants to enhanc e the efficiency of constructing Hp infection mouse models.
6.Inhibition of YAP1 increases abundance of intestinal AKK bacteria and improves mechanism of PD-1 monoclonal antibody-related liver damage
Junlan LU ; Yi GONG ; Yuman ZHANG ; Yuting GAO ; Yanguang YANG ; Hua LIANG ; Yuan YUE ; Jiali YANG ; Xinli SHI
Chinese Journal of Immunology 2025;41(3):540-544,550
Objective:To investigate the mechanism of improving liver injury by enhancing the abundance of Akkermansia mu-ciniphila(AKK bacteria)with hepatocyte-specific Yap1 knockout during PD-1 monoclonal antibody treatment.Methods:Hepatocyte-specific Yap1 knockout mice(genotype Yap1Flox/Flox;albumin-Cre,labeled as Yap1LKO)and control mice(genotype Yap1Flox/Flox,labeled Yap1Flox),aristolocholic acidⅠ(AAⅠ)and CCl4 were used to induce liver injury,Yap1LKO mice and Yap1Flox mice were randomly di-vided into control group and PD-1 monoclonal antibody group.After the intervention,real-time PCR detected changes in the abun-dance of AKK bacteria in the fecal microbial DNA of mice,16S rRNA gene sequencing further analyzes intestinal flora changes,the livers of mice were made into wax blocks for HE staining to observe the histopathological changes of the liver.Results:Yap1Flox mice exhibited balloon-like edema degeneration of hepatocytes and infiltration of inflammatory factors in the manifold area,compared with Yap1Flox mice,Yap1LKO mice had reduced the abundance of AKK bacteria in the intestine,fibrosis of the liver,and the degree of dam-age was more serious;PD-1 monoclonal antibody treatment alone did not increase the abundance of AKK bacteria in the intestines of mice,and fibrosis appeared in the liver;however,the abundance of intestinal AKK bacteria in Yap1LKO mice treated with PD-1 mono-clonal antibody increased,the ratio(F/B value)of Firmicutes to Bacteroides at the phylum level decreased,and the morphology of he-patocytes returned to normal and the degree of liver damage decreased.Conclusion:In AAⅠ and CCl4 induced liver injury mice,he-patocyte-specific Yap1 knockout reduced the abundance of AKK bacteria in the intestine,and the degree of liver injury was more se-vere than that in Yap1Flox mice.When treated with PD-1 monoclonal antibody,hepatocyte-specific Yap1 knockout could increase the abundance of AKK bacteria in the intestine,change the composition of intestinal flora,maintain intestinal homeostasis and ameliorate liver injury.
7.Protective mechanism of amifostine on acute radiation injury by regulating gut microbiota
Yue CONG ; Li LI ; Yimeng ZHAO ; Yuanyuan XU ; Jianting GONG ; Jiali GUAN
China Pharmacy 2024;35(4):459-463
OBJECTIVE To explore the protective mechanism of amifostine on acute radiation injury mice. METHODS Thirty C57BL/6J mice were randomly divided into normal control group, model group and amifostine group (150 mg/kg), with 10 mice in each group. Thirty minutes before irradiation, the mice in the amifostine group were intraperitoneally injected with amifostine; normal control group and model group were given constant volume of normal saline intraperitoneally; then acute radiation injury was induced by 4 Gy X-ray radiation in both model group and amifostine group. The white blood cell count (WBC), platelet count and red blood cell (RBC) count in mice were detected 2 hours before irradiation and on days 1, 4, 7, 10 and 14 after irradiation; the changes in the proportion of WBC (neutrophils, lymphocytes and monocytes) on the 7th day after irradiation were analyzed. The 16S rRNA high-throughput sequencing was used to analyze the structure of gut microbiota in mice feces on the 7th day after irradiation, then its correlation with WBC was analyzed. RESULTS The counts of WBC on the 1st, 4th, 7th and 10th day after irradiation, platelet count on the 10th day after irradiation and RBC count on the 1st day after irradiation in the amifostine group were significantly higher than those in model group (P<0.05). Compared with normal control group,β diversity of gut microbiome showed significant change, relative abundance of Firmicutes increased and that of Bacteroidetes decreased in model group. Amifostine could reverse the change in β diversity of gut microbiome, and the relative abundance of Bacteroidetes and Firmicutes. The model group consisted of four distinct species, namely Allobaculum, Erysipelotrichia, Erysipelotrichales and Erysipelotrichaceae, which were significantly negatively correlated with the proportion of peripheral blood lymphocytes (P<0.01); amifostine group consisted of two distinct species, namely Lactobacillus murinus and L. crispatus, which were significantly negatively correlated with the proportion of neutrophils (P<0.05). CONCLUSIONS Amifostine significantly improves irradiation-induced injury by regulating dysbiosis of LY201816) gut microbiota.
8.Correlation of milk tea consumption with comorbid overweight/obesity and depressive symptoms among college students
LI Shengpeng, LIANG Dingxiong, SU Fan, SONG Yongjing, SHA Mian, XU Jiali, SONG Jiancai, GONG Ling
Chinese Journal of School Health 2024;45(11):1644-1647
Objective:
To explore the association of milk tea consumption with comorbid of overweight/obesity and depressive symptoms among college students, so as to provide a reference for promoting the physical and mental health of college students.
Methods:
A questionnaire survey was conducted from August to October 2023 using convenience sampling among 13 920 students from nine universities in Shanghai, Jiangxi, and Hubei provinces (municipality directly under the central government). Information on college students demographic characteristics, milk tea consumption, overweight/obesity status, and depressive symptoms was collected. Chi square tests were used to compare the association between different demographic characteristics and milk tea consumption with comorbid overweight/obesity and depressive symptoms. Multivariate Logistic regression analysis was performed to infer the strength of the association.
Results:
The detection rate of comorbidity of overweight/obesity and depressive symptoms was 5.8% among college students. The univariate analysis revealed statistically significant differences in the detection rate of comorbidity of overweight/obesity and depressive symptoms among various groups, including gender, grade, parents education level, only child status, family economic status, meeting moderate to high levels of physical activity standards, sleep quality, and frequent fast food consumption ( χ 2= 82.10, 23.07, 8.91, 10.87 , 4.56, 47.60, 17.60, 386.74, 96.61, P <0.05). There were also statistically significant differences between groups based on milk tea consumption frequency and quantity ( χ 2=42.12, 38.76, P <0.01). Compared with the group of without consuming milk tea, Logistic regression analysis showed that college students who consumed milk tea 4-5 times and ≥6 times had higher risk of comorbid overweight/obesity and depressive symptoms ( OR =1.98, 2.46), and college students who consumed 1-1 500 mL and ≥3 000 mL of milk tea also had higher comorbidity risk ( OR =1.52, 1.22) ( P <0.05).
Conclusions
Frequent and excessive milk tea consumption among college students may increase the risk of comorbid of overweight/obesity and depressive symptoms. It is recommended to reduce the frequency and quantity of milk tea consumption to improve college students physical and mental health.
9.Association between depression and anxiety symptoms with physical activity among rural returning adolescents
XIE Qin, GE Meiqin, LI Hua, XU Jiali, SONG Yongjing, SU Fan, GONG Ling
Chinese Journal of School Health 2023;44(7):1038-1043
Objective:
To understand the symptoms of depression and anxiety among rural returning adolescents and to analyze their association with physical activity related factors, so as to provide reference for interventions targeting depression and anxiety symtoms in the population.
Methods:
From April to June 2020, 3 495 middle school students were selected from 6 counties and districts of Shangrao City by random cluster stratified sampling sampling. The Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7) were used to evaluate the depressive and anxiety symptoms among middle school students. The International Physical Activity Questionnaire was used to assess their physical activity levels during the past week. Chi square test and Logistic regression analysis were used to determine the strength of the association between depression and anxiety symptoms and physical activity related factors in returning and non returning adolescents as well as the overall population.
Results:
Univariate analysis showed significant differences in the prevalence of depressive and anxiety symptoms between rural returning and non returning adolescents and the overall population in terms of "type of school" "family economic situation" "parental occupation" "number of sports classes per week" and "level of physical activity per week" ( χ 2=78.21, 16.56, 135.44, 107.75, 7.10, 8.62; 97.94, 24.26 , 124.07, 90.36, 9.60, 8.34, P <0.05). Multivariate regression analysis showed a correlation between the occurrence of depression and the number of sports classes per week for rural returning and non returning adolescents and the overall population (number of sports classes per week for non returning was 2 times, OR=1.22, 95%CI =1.01-1.49; returning adolescents for 1 time, OR=1.85, 95%CI =1.06-3.23; the overall population for 1 time, OR=1.34, 95%CI =1.01-1.77 and 2 times, OR=1.20, 95%CI =1.01-1.43, P <0.05). There was a correlation between anxiety symptoms and the number of sports classes per week for returning adolescents (number of sports classes per week for returning adolescents was 1 time, OR=2.10, 95%CI=1.21-3.63, P < 0.05 ).
Conclusion
A low frequency of weekly sports classes may be a risk factor for depressive or anxiety symptoms in rural and returning adolescents. Rural primary and secondary schools should appropriately increase the number of physical education courses or arrange sports extended classes to promote the development of adolescent mental health.
10.Clinical experience of off-pump arch branches preferential reconstruction and whole brain perfusion in the treatment of type A
Lei CHEN ; Dong LI ; Yang WU ; Minghui YAO ; Jiali WANG ; Gang WANG ; Zhiyun GONG ; Cangsong XIAO
Chinese Journal of Thoracic and Cardiovascular Surgery 2022;38(4):219-222
Objective:To introduce the early results of total aortic arch replacement (TAA) without cardiopulmonary bypass (CPB) and without interruption of cerebral blood supply, using the technique of arch branches preferential reconstruction and whole brain perfusion for brain protection.Methods:Between June 2020 and March 2021, a total of 9 Stanford type A aortic dissection patients we performed total arch replacement by using the technique of arch branches preferential reconstruction and whole brain perfusion without cardiopulmonary bypass and without interruption of blood supply to the brain. The method of this reconstruction technique is as follows: A 24F aortic cannula was inserted into the true lumen at the root of the transverse innominate artery (IA) to connect one end of the artery for cardiopulmonary bypass. The access was connected to 14F artery via Y-connector and inserted into IA cavity to maintain blood supply to brain. Without cardiopulmonary bypass, the 10 mm branch of the four branch artificial blood vessel was anastomosed with the innominate artery IA. The perfusion collateral was connected to the second end of the artery of CPB (single pump and double tubes) to continue to supply blood for IA. The left common carotid artery (LCA) and left subclavian artery (LSCA) were reconstructed by the same method. When IA and LCA were anastomosed, the distal blood supply was not interrupted. After the three branches of the aortic arch were anastomosed, we started to turn the machine, then cooled down and blocked the ascending aorta to further complete the operation of the aortic root and arch. During the period of lower body circulatory arrest, the whole brain was perfused with low flow.Results:No intraoperative death or perioperative complications occurred in all patients, and they were discharged smoothly. The cardiopulmonary bypass time was (192.4±58.1) min, the aortic clamping time was (128.3±52.4) min, the lower body circulatory arrest time was (29.1±1.3) min, and the postoperative awake time was (8.2±3.7) h.Conclusion:Off-pump arch branches preferential reconstruction can provide physiological whole brain perfusion, shorten the cardiopulmonary bypass time and aortic occlusion time, and the operation is safe and effective.


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