1.Pathological characteristics and genetic analysis of a stillborn harboring compound heterozygous nonsense variants of TH gene.
Haofeng NING ; Zheng YANG ; Xiaonan WANG ; Yanchou YE ; Zheng CHEN ; Jianlan YIN
Chinese Journal of Medical Genetics 2025;42(11):1393-1397
OBJECTIVE:
To carry out pathological and genetic analyses on a fetus with intrauterine growth restriction and death during second trimester after induced abortion.
METHODS:
A fetus undergone induced abortion due to intrauterine growth restriction and death during second trimester at the the Seventh Affiliated Hospital of Sun Yat-Sen University in 2024 was selected as the study subject. Clinical data of the pregnancy were collected. DNA was extracted from tissues from the aborted fetus and peripheral blood samples from its parents. Chromosomal microarray analysis and whole exome sequencing were carried out. Candidate variants were verified by Sanger sequencing. Following abortion, routine autopsy and pathological analysis were conducted. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: KY-2025-334-01).
RESULTS:
The aborted fetus was a male and harbored compound heterozygous nonsense variants of the TH gene (c.457C>T/p.Arg153* and c.694C>T/p.Gln232*), for which both parents were heterozygous carriers. Autopsy and pathological analysis revealed that the fetus had pathological features including loose arrangement of myocardial fibers and congestion in the liver.
CONCLUSION
Biallelic null variants of the TH gene may cause heart failure by affecting the development of cardiovascular system, which in turn may lead to intrauterine death. This study has provided new clues for the molecular diagnosis of stillbirth and recurrent pregnancy loss.
Humans
;
Female
;
Pregnancy
;
Male
;
Heterozygote
;
Codon, Nonsense/genetics*
;
Fetal Growth Retardation/pathology*
;
Adult
;
Stillbirth/genetics*
2.Impact of atmospheric particulate matter on daily hospital admissions of patients with chronic kidney disease:a time series analysis
Ruikai WU ; Ying ZHANG ; Long MA ; Haofeng YANG ; Deqi SU
Academic Journal of Naval Medical University 2025;46(6):775-783
Objective To investigate the correlation and lag effect between atmospheric particulate matter and the risk of hospitalization for chronic kidney disease(CKD).Methods The daily hospitalization data for CKD in 9 hospitals in Urumqi from Jan.1,2019,to Dec.31,2020,and the air pollution and meteorological data during the same period were collected.The relationship between PM2.5 and PM10 concentrations and CKD incidence was analyzed after controlling for long-term trends,meteorological factors,and potential confounding factors such as the"day of the week effect"by using the generalized additive model(GAM).The effects of single-day lag of 0-7 d(lag0-lag7)and cumulative lag of 0-7 d(lag01-lag07)were analyzed,and subgroup analyses were conducted for gender,age,and season.On the basis of the single pollutant model,other pollutants were included(at most 2 pollutants were included at a time),and a double pollutant model was constructed to evaluate the stability of the model.Results For every 10 μg/m3 increase in PM2.5 concentration,the highest risk of CKD hospitalization occured when lagged alone at lag2(relative risk[RR]=1.014,95%confidence interval[CI]1.006-1.023)and lagged cumulatively at lag04(RR=1.018,95%CI 1.007-1.029).For every 10 μg/m3 increase in PM10 concentration,the risk of CKD hospitalization was highest when lagged alone at lag0 and lagged cumulatively at lag07(RR=1.012,95%CI 1.007-1.017;RR=1.024,95%CI 1.016-1.032).In gender stratification,for every 10 μg/m3 increase in PM2.5 concentration,the cumulative lag at lag04 indicated that males had the highest risk of CKD hospitalization(RR=1.023,95%CI 1.008-1.038);for every 10 μg/m3 increase in PM10 concentration,the highest risk of CKD hospitalization was observed in males when lagged alone at lag0(RR=1.013,95%CI 1.006-1.020),and in females when lagged alone at lag1(RR=1.013,95%CI 1.006-1.020).In age stratification,for every 10 μg/m3 increase in PM2.5 concentration,the risk of CKD hospitalization was highest in people 65 years old with single-day lag at lag3 and cumulative lag at lag04(RR=1.016,95%CI 1.007-1.026;RR=1.022,95%CI 1.010-1.035);for every 10 μg/m3 increase in PM10 concentration,the cumulative lag at lag07 indicated that individuals aged<65 years old and ≥65 years old had the highest risk of CKD hospitalization(RR=1.027,95%CI 1.017-1.037;RR=1.015,95%CI 1.001-1.028).In seasonal stratification,for every 10 μg/m3 increase in PM2.5 concentration during the cold season,the risk of CKD hospitalization was highest when lagged alone at lag3 and lagged cumulatively at lag07(RR=1.020,95%CI 1.011-1.029;RR=1.025,95%CI 1.011-1.038).For every 10 μg/m3 increase in PM10 concentration during the cold season,the risk of CKD hospitalization was highest when lagged alone at lag2(RR=1.013,95%CI 1.007-1.019).For every 10 μg/m3 increase in PM10 concentration during the warm season,the risk of CKD hospitalization was highest when lagged alone at lag7(RR=1.015,95%CI 1.006-1.024).In the dual pollutant model,the effects of PM2.5 adjusting PM10,SO2,O3 and CO,and PM10 adjusting NO2,SO2,O3,and CO on the risk of CKD hospitalization were still significant(P<0.05).Conclusion The increase in atmospheric particulate matter concentrations of PM2.5 and PM10 can lead to an increased risk of CKD,and there is a lag effect.Men,people under the age of 65 years old,and those in cold seasons(heating periods)are more sensitive to exposure to PM2.5 and PM10.
3.Status quo and issues of ideological education for postgraduate students of general practice based on professional beliefs
Danhua HUANG ; Xin YANG ; Haofeng XU ; Wanhua DONG ; Bingjie HU
Chinese Journal of General Practitioners 2025;24(3):319-325
To analyze the current state and issues of ideological education for graduate students of general practice, from April 10 to Dec 19, 2024, a literature review was conducted on publications from Jan 1, 2001, to Dec 19, 2024, in the CNKI, Wanfang, and VIP databases to identify research entry points. Purposive sampling was used to select postgraduate students majoring in general practice at Guangzhou Medical University and their corresponding faculty as the study participants. A semi-structured in-depth interview method was employed to investigate the current state of ideological and political education. Faculty evaluations of students and their recommendations for ideological and political education were also considered. Thematic framework analysis was applied to the interview data for categorization, integration, and theme extraction. The literature review revealed that enhancing professional identity can strengthen career commitment, leading to the design of an ideological and political education interview outline focused on professional belief and professional identity. The study included 13 general practice postgraduates (mean age: 24.5±1.4 years), of whom 8 were directional students and 5 were non-directional students. Additionally, 7 general practice faculty members were included (mean age: 41.3±5.4 years), with an average of 16.3±5.6 years of experience in general practice education. Five themes were extracted from the interviews: the necessity of ideological and political education, the relationship between professional belief and its educational effects, the intrinsic motivation of ideological beliefs, the influence of external factors on beliefs, and effective approaches to ideological and political education. The study also identified current issues in ideological and political education for general practice postgraduates, including inadequate career planning guidance, reluctance to work in underdeveloped areas, over-reliance on the role modeling of faculty mentors, lack of systematic courses and frameworks for ideological and political education, and limited opportunities for team projects and communication platforms. The current state of ideological and political education for general practice postgraduates reveals deficiencies in career planning support, systematic course construction, practical opportunities, and communication platforms. Education methods remain overly simplistic and are significantly influenced by external factors, underscoring the need for optimization and enhancement.
4.Effect of Xianglian Huazhuo Prescription on Hedgehog Signaling Pathway in Rats with Chronic Atrophic Gastritis
Jinye ZHOU ; Haofeng ZHANG ; Ziwei LIU ; Yican WANG ; Yanru CAI ; Yuxi GUO ; Jie WANG ; Zheng ZHI ; Qian YANG ; Bolin LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(18):41-47
ObjectiveTo explore the therapeutic effect and mechanism of Xianglian Huazhuo prescription on chronic atrophic gastritis (CAG) in rats based on the Hedgehog signaling pathway. MethodsThe CAG rat model was established by sodium salicylate, N-methyl-N′-nitro-N-nitroguanidine (MNNG), and irregular feeding. The successfully modeled rats were randomly divided into a model group (180 mg·L-1), a moradan group (1.4 g·kg-1), and Xianglian Huazhuo Prescription groups with high, medium, and low doses (36, 9, 18 g·kg-1), followed by drug intervention. Hematoxylin-eosin (HE) staining was used to observe morphological changes in the gastric mucosa. Transmission electron microscopy was used to observe the ultrastructure of gastric mucosa cells. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to detect the mRNA expression of Sonic Hedgehog (Shh), Patched 1 (Ptch1), and Glioma-associated oncogene homolog 1 (Gli1). Western blot was used to detect the protein expression levels of Shh, Ptch1, and Gli1 in the gastric mucosa. Immunohistochemistry was used to observe the protein expression of the epithelial marker E-cadherin. ResultsCompared with the normal group, the CAG model group showed a reduction in gastric mucosal intrinsic glands and infiltration of inflammatory cells. The ultrastructure of gastric mucosal cells showed nuclear pyknosis, fewer mitochondria, and abnormal mitochondrial structure. The mRNA and protein expression of Shh, Ptch1, and Gli1 in the gastric mucosa were significantly decreased (P<0.05), and E-cadherin protein expression was decreased. Compared with the model group, the intervention groups showed varying degrees of improvement in histopathological morphology and cellular ultrastructure. The mRNA and protein expression of Shh, Ptch1, Gli1, and E-cadherin increased to varying degrees. Xianglian Huazhuo Prescription upregulated the expression of key Hedgehog pathway factors and E-cadherin at both the mRNA and protein levels (P<0.05). ConclusionXianglian Huazhuo prescription has a therapeutic effect on CAG in rats, and its mechanism may be related to activation of the Hedgehog signaling pathway and inhibition of epithelial-mesenchymal transition (EMT).
5.Huazhuo Jiedu Prescription Treats Ulcerative Colitis by Inhibiting Excessive Mitophagy via PINK1/Parkin Signaling Pathway
Haofeng ZHANG ; Jinye ZHOU ; Ziwei LIU ; Yican WANG ; Yirui CHENG ; Zheng ZHI ; Qian YANG ; Bolin LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):182-189
ObjectiveTo investigate the mechanism of Huazhuo Jiedu prescription in treating ulcerative colitis (UC) by regulating mitophagy. MethodsThe genes related to mitophagy and UC were retrieved from GeneCards, and then the common genes of mitophagy and UC were analyzed by metascape to identify the genes related to mitophagy in UC. Animal experiments were carried out to decipher the mechanism by which Huazhuo Jiedu prescription treated UC by regulating mitophagy. Sixty C57BL/6 male mice were randomized into normal, model, high-, medium-, and low-dose (50, 25, 12.5 g·kg-1, respectively) Huazhuo Jiedu prescription, and mesalazine (0.52 g·kg-1·d-1) groups, with 10 mice in each group. After successful modeling by the dextran sulfate sodium-free drinking method, the colonic mucosal damage was observed by hematoxylin-eosin staining, and the ultracellular structure of colon mucosa was observed by transmission electron microscopy. The expression levels of mitophagy-related proteins PTEN-induced putative kinase 1 (PINK1) and Parkin protein were determined by Western blot. The expression of prohibitin 2 (PHB2), ubiquitin-specific protease 15 (USP15), ubiquitin-specific protease 30 (USP30) in the colon tissue was detected by immunofluorescence (IF). ResultsAll the drug intervention groups showed ameliorated pathological manifestations of the colonic mucosa and improved mitochondrial structures in UC mice. Compared with the normal group, the model group demonstrated up-regulated protein levels of PINK1 and Parkin (P<0.05), enhanced average fluorescence intensity of PHB2 (P<0.05), and weakened average fluorescence intensity of USP15 and USP30 (P<0.05). Compared with the model group, the mesalazine group and the high- and medium-dose Huazhuo Jiedu prescription groups showcased down-regulated protein levels of PINK1 and Parkin (P<0.05), decreased average fluorescence intensity of PHB2 (P<0.05), and enhanced average fluorescence intensity of USP15 and USP30 (P<0.05). The low-dose Huazhuo Jiedu prescription group showed down-regulated protein levels of PINK1 and Parkin (P<0.05), weakened average fluorescence intensity of PHB2 (P<0.05), and enhanced average fluorescence intensity of USP15 and USP30 (P<0.05). ConclusionHuazhuo Jiedu prescription can attenuate the intestinal mucosal injury and improve the mitochondrial cell ultrastructure in UC mice by regulating the expression of PINK1-Parkin pathway and inhibiting excessive mitophagy.
6.Huazhuo Jiedu Prescription Treats Ulcerative Colitis by Inhibiting Excessive Mitophagy via PINK1/Parkin Signaling Pathway
Haofeng ZHANG ; Jinye ZHOU ; Ziwei LIU ; Yican WANG ; Yirui CHENG ; Zheng ZHI ; Qian YANG ; Bolin LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):182-189
ObjectiveTo investigate the mechanism of Huazhuo Jiedu prescription in treating ulcerative colitis (UC) by regulating mitophagy. MethodsThe genes related to mitophagy and UC were retrieved from GeneCards, and then the common genes of mitophagy and UC were analyzed by metascape to identify the genes related to mitophagy in UC. Animal experiments were carried out to decipher the mechanism by which Huazhuo Jiedu prescription treated UC by regulating mitophagy. Sixty C57BL/6 male mice were randomized into normal, model, high-, medium-, and low-dose (50, 25, 12.5 g·kg-1, respectively) Huazhuo Jiedu prescription, and mesalazine (0.52 g·kg-1·d-1) groups, with 10 mice in each group. After successful modeling by the dextran sulfate sodium-free drinking method, the colonic mucosal damage was observed by hematoxylin-eosin staining, and the ultracellular structure of colon mucosa was observed by transmission electron microscopy. The expression levels of mitophagy-related proteins PTEN-induced putative kinase 1 (PINK1) and Parkin protein were determined by Western blot. The expression of prohibitin 2 (PHB2), ubiquitin-specific protease 15 (USP15), ubiquitin-specific protease 30 (USP30) in the colon tissue was detected by immunofluorescence (IF). ResultsAll the drug intervention groups showed ameliorated pathological manifestations of the colonic mucosa and improved mitochondrial structures in UC mice. Compared with the normal group, the model group demonstrated up-regulated protein levels of PINK1 and Parkin (P<0.05), enhanced average fluorescence intensity of PHB2 (P<0.05), and weakened average fluorescence intensity of USP15 and USP30 (P<0.05). Compared with the model group, the mesalazine group and the high- and medium-dose Huazhuo Jiedu prescription groups showcased down-regulated protein levels of PINK1 and Parkin (P<0.05), decreased average fluorescence intensity of PHB2 (P<0.05), and enhanced average fluorescence intensity of USP15 and USP30 (P<0.05). The low-dose Huazhuo Jiedu prescription group showed down-regulated protein levels of PINK1 and Parkin (P<0.05), weakened average fluorescence intensity of PHB2 (P<0.05), and enhanced average fluorescence intensity of USP15 and USP30 (P<0.05). ConclusionHuazhuo Jiedu prescription can attenuate the intestinal mucosal injury and improve the mitochondrial cell ultrastructure in UC mice by regulating the expression of PINK1-Parkin pathway and inhibiting excessive mitophagy.
7.Clinical Analysis of 83 Cases of Asymptomatic Atrioventricular Block in Preg-nancy
Haofeng ZHANG ; Jun ZHANG ; Dong YANG ; Dawei ZHANG ; Xing SU
Journal of Practical Obstetrics and Gynecology 2025;41(3):252-258
Objective:To investigate the clinical characteristics and maternal-fetal outcomes of asymptomatic pregnant women with atrioventricular block(AVB).Methods:Clinical data were collected from 83 pregnant women with AVB treated at Beijing Anzhen Hospital,Capital Medical University,from January 2010 to December 2020.Pa-tients were classified into first-degree,second-degree Type I,second-degree Type Ⅱ and third-degree AVB based on the severity of atrioventricular conduction block.All patients were followed up by telephone,and a retro-spective analysis was conducted on their general information,clinical characteristics,and maternal-fetal out-comes.Results:Among the 83 patients,11 cases(13.3%)had first-degree AVB,28 cases(33.7%)had sec-ond-degree Type I AVB,9 cases(10.8%)had second-degree Type II AVB,and 35 cases(42.2%)had third-de-gree AVB.Most patients were primiparas(61 cases,73.5%)and had singleton pregnancies(80 cases,96.4%).AVB was diagnosed before pregnancy in 40 cases(48.2%)and during pregnancy in 43 cases(51.8%).A total of 32 patients received pacemaker therapy before pregnancy(3.6%),before delivery(26.5%),or after delivery(3.6%).Most patients had good cardiac function,with only 3 patients having gradeⅢcardiac function before de-livery,showing no statistically significant difference(P>0.05).Of the 83 patients,62 cases underwent cesarean section to terminate the pregnancy,with 17 cases(27.4%)due to AVB and 34 cases(54.8%)due to obstetric factors.Among the 86 newborns,8 cases(9.6%)were preterm,7 cases(8.4%)had low birth weight,and 1cases(1.2%)had congenital heart disease.Conclusions:Most pregnant women with AVB have good cardiac function and can achieve favorable maternal-fetal outcomes under multidisciplinary team management.
8.Clinical Analysis of 83 Cases of Asymptomatic Atrioventricular Block in Preg-nancy
Haofeng ZHANG ; Jun ZHANG ; Dong YANG ; Dawei ZHANG ; Xing SU
Journal of Practical Obstetrics and Gynecology 2025;41(3):252-258
Objective:To investigate the clinical characteristics and maternal-fetal outcomes of asymptomatic pregnant women with atrioventricular block(AVB).Methods:Clinical data were collected from 83 pregnant women with AVB treated at Beijing Anzhen Hospital,Capital Medical University,from January 2010 to December 2020.Pa-tients were classified into first-degree,second-degree Type I,second-degree Type Ⅱ and third-degree AVB based on the severity of atrioventricular conduction block.All patients were followed up by telephone,and a retro-spective analysis was conducted on their general information,clinical characteristics,and maternal-fetal out-comes.Results:Among the 83 patients,11 cases(13.3%)had first-degree AVB,28 cases(33.7%)had sec-ond-degree Type I AVB,9 cases(10.8%)had second-degree Type II AVB,and 35 cases(42.2%)had third-de-gree AVB.Most patients were primiparas(61 cases,73.5%)and had singleton pregnancies(80 cases,96.4%).AVB was diagnosed before pregnancy in 40 cases(48.2%)and during pregnancy in 43 cases(51.8%).A total of 32 patients received pacemaker therapy before pregnancy(3.6%),before delivery(26.5%),or after delivery(3.6%).Most patients had good cardiac function,with only 3 patients having gradeⅢcardiac function before de-livery,showing no statistically significant difference(P>0.05).Of the 83 patients,62 cases underwent cesarean section to terminate the pregnancy,with 17 cases(27.4%)due to AVB and 34 cases(54.8%)due to obstetric factors.Among the 86 newborns,8 cases(9.6%)were preterm,7 cases(8.4%)had low birth weight,and 1cases(1.2%)had congenital heart disease.Conclusions:Most pregnant women with AVB have good cardiac function and can achieve favorable maternal-fetal outcomes under multidisciplinary team management.
9.Status quo and issues of ideological education for postgraduate students of general practice based on professional beliefs
Danhua HUANG ; Xin YANG ; Haofeng XU ; Wanhua DONG ; Bingjie HU
Chinese Journal of General Practitioners 2025;24(3):319-325
To analyze the current state and issues of ideological education for graduate students of general practice, from April 10 to Dec 19, 2024, a literature review was conducted on publications from Jan 1, 2001, to Dec 19, 2024, in the CNKI, Wanfang, and VIP databases to identify research entry points. Purposive sampling was used to select postgraduate students majoring in general practice at Guangzhou Medical University and their corresponding faculty as the study participants. A semi-structured in-depth interview method was employed to investigate the current state of ideological and political education. Faculty evaluations of students and their recommendations for ideological and political education were also considered. Thematic framework analysis was applied to the interview data for categorization, integration, and theme extraction. The literature review revealed that enhancing professional identity can strengthen career commitment, leading to the design of an ideological and political education interview outline focused on professional belief and professional identity. The study included 13 general practice postgraduates (mean age: 24.5±1.4 years), of whom 8 were directional students and 5 were non-directional students. Additionally, 7 general practice faculty members were included (mean age: 41.3±5.4 years), with an average of 16.3±5.6 years of experience in general practice education. Five themes were extracted from the interviews: the necessity of ideological and political education, the relationship between professional belief and its educational effects, the intrinsic motivation of ideological beliefs, the influence of external factors on beliefs, and effective approaches to ideological and political education. The study also identified current issues in ideological and political education for general practice postgraduates, including inadequate career planning guidance, reluctance to work in underdeveloped areas, over-reliance on the role modeling of faculty mentors, lack of systematic courses and frameworks for ideological and political education, and limited opportunities for team projects and communication platforms. The current state of ideological and political education for general practice postgraduates reveals deficiencies in career planning support, systematic course construction, practical opportunities, and communication platforms. Education methods remain overly simplistic and are significantly influenced by external factors, underscoring the need for optimization and enhancement.
10.Risk factors and prognosis of recurrence within 6 months after radical resection of intrahepatic cholangiocarcinoma
Zhenwei YANG ; Pengyu CHEN ; Hao YUAN ; Zuochao QI ; Guan HUANG ; Haofeng ZHANG ; Bo MENG ; Xianzhou ZHANG ; Haibo YU
Chinese Journal of General Surgery 2024;39(2):99-104
Objective:To explore the relevant risk factors and prognosis of patients with intrahepatic cholangiocarcinoma (ICC) who experienced recurrence within 6 months after surgeryMethods:This retrospective study included a total of 259 patients with ICC a treated at He'nan Provincial People's Hospital and He'nan Cancer Hospital from Jan 2018 to Jan 2020. The clinical and pathological data ,differences between the group with recurrence within 6 months and the group without recurrence within 6 months were compared using the chi-square test. Logistic regression analysis was used to determine the relevant risk factors for recurrence within 6 months. Kaplan-Meier method was used to construct survival and recurrence curves, and survival rates were calculated.Results:The overall survival and recurrence-free survival of patients in the group with recurrence within 6 months were significantly shorter. CA19-9, tumor longitudinal diameter, microvascular invasion, and neural invasion were identified as independent risk factors for recurrence within 6 months after ICC surgery ( P<0.001). Conclusion:The patient population experiencing recurrence within 6 months after ICC surgery has an extremely poor prognosis and possesses a specific tumor microenvironment. CA19-9, tumor longitudinal diameter, microvascular invasion, and neural invasion were identified as independent risk factors for recurrence within 6 months after ICC surgery.

Result Analysis
Print
Save
E-mail