1.Integrated molecular characterization of sarcomatoid hepatocellular carcinoma
Rong-Qi SUN ; Yu-Hang YE ; Ye XU ; Bo WANG ; Si-Yuan PAN ; Ning LI ; Long CHEN ; Jing-Yue PAN ; Zhi-Qiang HU ; Jia FAN ; Zheng-Jun ZHOU ; Jian ZHOU ; Cheng-Li SONG ; Shao-Lai ZHOU
Clinical and Molecular Hepatology 2025;31(2):426-444
Background:
s/Aims: Sarcomatoid hepatocellular carcinoma (HCC) is a rare histological subtype of HCC characterized by extremely poor prognosis; however, its molecular characterization has not been elucidated.
Methods:
In this study, we conducted an integrated multiomics study of whole-exome sequencing, RNA-seq, spatial transcriptome, and immunohistochemical analyses of 28 paired sarcomatoid tumor components and conventional HCC components from 10 patients with sarcomatoid HCC, in order to identify frequently altered genes, infer the tumor subclonal architectures, track the genomic evolution, and delineate the transcriptional characteristics of sarcomatoid HCCs.
Results:
Our results showed that the sarcomatoid HCCs had poor prognosis. The sarcomatoid tumor components and the conventional HCC components were derived from common ancestors, mostly accessing similar mutational processes. Clonal phylogenies demonstrated branched tumor evolution during sarcomatoid HCC development and progression. TP53 mutation commonly occurred at tumor initiation, whereas ARID2 mutation often occurred later. Transcriptome analyses revealed the epithelial–mesenchymal transition (EMT) and hypoxic phenotype in sarcomatoid tumor components, which were confirmed by immunohistochemical staining. Moreover, we identified ARID2 mutations in 70% (7/10) of patients with sarcomatoid HCC but only 1–5% of patients with non-sarcomatoid HCC. Biofunctional investigations revealed that inactivating mutation of ARID2 contributes to HCC growth and metastasis and induces EMT in a hypoxic microenvironment.
Conclusions
We offer a comprehensive description of the molecular basis for sarcomatoid HCC, and identify genomic alteration (ARID2 mutation) together with the tumor microenvironment (hypoxic microenvironment), that may contribute to the formation of the sarcomatoid tumor component through EMT, leading to sarcomatoid HCC development and progression.
2.Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population
Xiheng CHEN ; Siming GUI ; Dachao WEI ; Dingwei DENG ; Yudi TANG ; Jian LV ; Wei YOU ; Jia JIANG ; Jun LIN ; Huijian GE ; Peng LIU ; Yuhua JIANG ; Lixin MA ; Yunci WANG ; Ming LV ; Youxiang LI
Journal of Stroke 2025;27(2):237-249
Background:
and Purpose Ruptured intracranial aneurysms (RIA) are associated with a mortality rate of up to 40% in the Chinese population, highlighting the critical need for targeted treatment interventions for at-risk individuals. Although the impact of aldehyde dehydrogenase 2 (ALDH2) gene mutations on susceptibility to intracranial aneurysms (IA) is well documented, the potential connection between ALDH2 rs671 single-nucleotide polymorphism (SNP) and RIA remains unexplored. Given the increased prevalence of ALDH2 gene mutations among Chinese Han individuals, it is clinically relevant to investigate the link between ALDH2 rs671 SNP and IA rupture.
Methods:
A prospective study was conducted on 546 patients diagnosed with IA to investigate the association between ALDH2 rs671 SNP and the risk of IA rupture.
Results:
The ALDH2 rs671 SNP (ALDH2*2) was significantly more prevalent in patients with unruptured IA (UIA) than in those with RIA (32.56% vs. 18.58%, P=0.004). Multivariate logistic regression analysis revealed that people with the ALDH2 mutation (ALDH2*1/*2 and ALDH2*2/*2 gene type) had a significantly reduced odds ratio (OR=0.49; 95% confidence level [CI] 0.27–0.88; P=0.018) for RIAs. Age-specific subgroup analysis indicated that the ALDH2 mutation provided a stronger protective effect in individuals aged 60 years and above with IA compared to those under 60 years old (OR=0.38 vs. OR=0.52, both P<0.05).
Conclusion
The incidence of RIA was significantly higher in individuals with a normal ALDH2 gene (ALDH2*1/*1) than in those with an ALDH2 rs671 SNP (ALDH2*1/*2 or ALDH2*2/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.
3.Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population
Xiheng CHEN ; Siming GUI ; Dachao WEI ; Dingwei DENG ; Yudi TANG ; Jian LV ; Wei YOU ; Jia JIANG ; Jun LIN ; Huijian GE ; Peng LIU ; Yuhua JIANG ; Lixin MA ; Yunci WANG ; Ming LV ; Youxiang LI
Journal of Stroke 2025;27(2):237-249
Background:
and Purpose Ruptured intracranial aneurysms (RIA) are associated with a mortality rate of up to 40% in the Chinese population, highlighting the critical need for targeted treatment interventions for at-risk individuals. Although the impact of aldehyde dehydrogenase 2 (ALDH2) gene mutations on susceptibility to intracranial aneurysms (IA) is well documented, the potential connection between ALDH2 rs671 single-nucleotide polymorphism (SNP) and RIA remains unexplored. Given the increased prevalence of ALDH2 gene mutations among Chinese Han individuals, it is clinically relevant to investigate the link between ALDH2 rs671 SNP and IA rupture.
Methods:
A prospective study was conducted on 546 patients diagnosed with IA to investigate the association between ALDH2 rs671 SNP and the risk of IA rupture.
Results:
The ALDH2 rs671 SNP (ALDH2*2) was significantly more prevalent in patients with unruptured IA (UIA) than in those with RIA (32.56% vs. 18.58%, P=0.004). Multivariate logistic regression analysis revealed that people with the ALDH2 mutation (ALDH2*1/*2 and ALDH2*2/*2 gene type) had a significantly reduced odds ratio (OR=0.49; 95% confidence level [CI] 0.27–0.88; P=0.018) for RIAs. Age-specific subgroup analysis indicated that the ALDH2 mutation provided a stronger protective effect in individuals aged 60 years and above with IA compared to those under 60 years old (OR=0.38 vs. OR=0.52, both P<0.05).
Conclusion
The incidence of RIA was significantly higher in individuals with a normal ALDH2 gene (ALDH2*1/*1) than in those with an ALDH2 rs671 SNP (ALDH2*1/*2 or ALDH2*2/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.
4.Integrated molecular characterization of sarcomatoid hepatocellular carcinoma
Rong-Qi SUN ; Yu-Hang YE ; Ye XU ; Bo WANG ; Si-Yuan PAN ; Ning LI ; Long CHEN ; Jing-Yue PAN ; Zhi-Qiang HU ; Jia FAN ; Zheng-Jun ZHOU ; Jian ZHOU ; Cheng-Li SONG ; Shao-Lai ZHOU
Clinical and Molecular Hepatology 2025;31(2):426-444
Background:
s/Aims: Sarcomatoid hepatocellular carcinoma (HCC) is a rare histological subtype of HCC characterized by extremely poor prognosis; however, its molecular characterization has not been elucidated.
Methods:
In this study, we conducted an integrated multiomics study of whole-exome sequencing, RNA-seq, spatial transcriptome, and immunohistochemical analyses of 28 paired sarcomatoid tumor components and conventional HCC components from 10 patients with sarcomatoid HCC, in order to identify frequently altered genes, infer the tumor subclonal architectures, track the genomic evolution, and delineate the transcriptional characteristics of sarcomatoid HCCs.
Results:
Our results showed that the sarcomatoid HCCs had poor prognosis. The sarcomatoid tumor components and the conventional HCC components were derived from common ancestors, mostly accessing similar mutational processes. Clonal phylogenies demonstrated branched tumor evolution during sarcomatoid HCC development and progression. TP53 mutation commonly occurred at tumor initiation, whereas ARID2 mutation often occurred later. Transcriptome analyses revealed the epithelial–mesenchymal transition (EMT) and hypoxic phenotype in sarcomatoid tumor components, which were confirmed by immunohistochemical staining. Moreover, we identified ARID2 mutations in 70% (7/10) of patients with sarcomatoid HCC but only 1–5% of patients with non-sarcomatoid HCC. Biofunctional investigations revealed that inactivating mutation of ARID2 contributes to HCC growth and metastasis and induces EMT in a hypoxic microenvironment.
Conclusions
We offer a comprehensive description of the molecular basis for sarcomatoid HCC, and identify genomic alteration (ARID2 mutation) together with the tumor microenvironment (hypoxic microenvironment), that may contribute to the formation of the sarcomatoid tumor component through EMT, leading to sarcomatoid HCC development and progression.
5.Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population
Xiheng CHEN ; Siming GUI ; Dachao WEI ; Dingwei DENG ; Yudi TANG ; Jian LV ; Wei YOU ; Jia JIANG ; Jun LIN ; Huijian GE ; Peng LIU ; Yuhua JIANG ; Lixin MA ; Yunci WANG ; Ming LV ; Youxiang LI
Journal of Stroke 2025;27(2):237-249
Background:
and Purpose Ruptured intracranial aneurysms (RIA) are associated with a mortality rate of up to 40% in the Chinese population, highlighting the critical need for targeted treatment interventions for at-risk individuals. Although the impact of aldehyde dehydrogenase 2 (ALDH2) gene mutations on susceptibility to intracranial aneurysms (IA) is well documented, the potential connection between ALDH2 rs671 single-nucleotide polymorphism (SNP) and RIA remains unexplored. Given the increased prevalence of ALDH2 gene mutations among Chinese Han individuals, it is clinically relevant to investigate the link between ALDH2 rs671 SNP and IA rupture.
Methods:
A prospective study was conducted on 546 patients diagnosed with IA to investigate the association between ALDH2 rs671 SNP and the risk of IA rupture.
Results:
The ALDH2 rs671 SNP (ALDH2*2) was significantly more prevalent in patients with unruptured IA (UIA) than in those with RIA (32.56% vs. 18.58%, P=0.004). Multivariate logistic regression analysis revealed that people with the ALDH2 mutation (ALDH2*1/*2 and ALDH2*2/*2 gene type) had a significantly reduced odds ratio (OR=0.49; 95% confidence level [CI] 0.27–0.88; P=0.018) for RIAs. Age-specific subgroup analysis indicated that the ALDH2 mutation provided a stronger protective effect in individuals aged 60 years and above with IA compared to those under 60 years old (OR=0.38 vs. OR=0.52, both P<0.05).
Conclusion
The incidence of RIA was significantly higher in individuals with a normal ALDH2 gene (ALDH2*1/*1) than in those with an ALDH2 rs671 SNP (ALDH2*1/*2 or ALDH2*2/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.
6.Mitochondrial Transcription Factor B1(TFB1M)Is Highly Expressed in Colon Cancer and Promotes Cell Growth Based on Bioinformatics Database
Zhi-Gao OU ; Hui-Ying CHEN ; Ting TANG ; Jian-Jun ZHU
Chinese Journal of Biochemistry and Molecular Biology 2025;41(1):125-135
Mitochondrial transcription factor B1(TFB1M)is mainly involved in mitochondrial DNA transcription and related to the development of hepatocellular carcinoma and breast cancer.However,its role in colon cancer is unclear.In this study,the expression level of TFB1M in colon cancer and its prognosis were analyzed based on TCGA and other databases and IHC assays.Differentially expressed genes(DEGs)were screened and subjected to the analysis of functional enrichment,mutation analysis,immune cell infiltration,and drug sensitivity analysis.CCK-8 and flow cytometry were used to detect the effects of overexpression of TFB1M on the viability,apoptosis and cell cycle distribution of colon cancer cells.Our results showed that the expression level of TFB1M was significantly up-regulated in colon canc-er,and its expression level was correlated with the N stage and TNM stage(P<0.05).The prognosis of colorectal cancer patients in the high TFB1M expression group was worse.Functional enrichment results showed that TFB1M was related to leukocyte-mediated immunity,immunoglobulin production and other signaling pathways.Mutation results showed that high-frequency mutated genes,such as ZFHX4,RYR2,PIK3CA and FAT4,had significantly higher mutation frequencies in the TFB1M high-expression group(all P<0.05).In addition,the expression level of TFB1M was significantly higher in the PIK3CA and FAT4 mutation groups(all P<0.05).Immune infiltration results showed that the percentage of CD4+memory activated T cells was increased in the TFB1M high expression group,while the percentage of Treg cells was reduced.The drug sensitivity results showed that patients in the TFB1M high expression group might be more sensitive to Tozasertib,cytarabine,vincristine,etc.,while patients in the TFB1M low expression group might be more sensitive to Dasatinib,JQ1,ERK_2440,etc.The results of cellular experiments showed that over-expression of TFB1M enhanced viability,reduced apoptosis and increased the percentage of S-phase and G2/M-phase cells in colon cancer cells.Altogether,the results indicated that TFB1M might play a key role in the growth of colon cancer cells by regulating immune cell infiltration and function.
7.Study on the association between epidemiological characteristics of mental disorders and rural revital-ization:an empirical analysis of a town in Huazhou city,Guangdong province
Jun YANG ; Zhihui XIE ; Yu CHEN ; Guanqing LI ; Lingling JIAN ; Canliang FANG
Modern Hospital 2025;25(10):1618-1622
Objective This study aims to investigate the epidemiological characteristics of mental disorders in a rural town of Huazhou City,Guangdong Province,and explore their association with the rural revitalization strategy,so as to provide evidence for policy formulation.Methods A combination of questionnaire surveys and in-depth interviews was used to collect in-formation on the demographic characteristics,disease status,economic conditions,and policy awareness of registered mental dis-order patients in the town.Semi-structured interviews were also conducted with local doctors and village committee members.Da-ta were analyzed using descriptive statistics and logistic regression models to assess the impact of awareness of rural revitalization policies on patients'income.Results The average age of the study subjects was 47.71 years,with an average disease duration of 18.38 years.A total of 86.36%of patients had a family history of mental disorders.After onset,42.11%of patients had an annual income≥¥ 10 000,which was an increase compared to pre-illness levels,but 60.75%had completely lost their ability to work.Awareness of rural revitalization policies was low(only 18.29%were fully aware),but policy awareness was significant-ly associated with increased patient income(OR=18.03,P<0.001).Additionally,medical expenditures were significantly higher among female patients than male patients(P<0.001).Conclusion In a town in Huazhou City,Guangdong Province,60.75%of mental disorder patients have completely lost their ability to work,while 42.11%have an annual income exceeding ¥ 10,000.Income is positively correlated with policy awareness(OR=18.03).It is recommended to strengthen policy promo-tion,optimize the allocation of medical resources,and develop specialized assistance programs to promote the coordinated devel-opment of mental health and rural revitalization.
8.Radiation hardening study for control chips in casualty transport robots
Jian-jun CHEN ; Fang GUO ; Zhen-dong ZHENG
Chinese Medical Equipment Journal 2025;46(11):18-23
Objective To explore the performance of gallium nitride(GaN)-based digital circuit chips applied in nuclear radiation environments and investigate the feasibility of their use in control chips for robots transporting injured personnel.Methods First,a GaN-based NAND gate digital circuit chip was fabricated.Second,both the GaN-based digital chip and the SN74AHCT1G00 silicon-based digital chip were irradiated with 60Co gamma-ray.The irradiation doses for the GaN-based digital chip were 1 Mrad(Si)and 2 Mrad(Si),while the irradiation dose for the SN74AHCT1G00 silicon-based digital chip was 1 Mrad(Si).Finally,the post-irradiation electrical performance of the two chips was measured using a Keithley 4200A-SCS semiconductor characterization system.Results Under 60Co gamma-ray irradiation doses of 1 Mrad(Si)and 2 Mrad(Si),the response delay of the GaN-based digital circuit chip was only on the order of 0.1 μs.In contrast,the response rate of the SN74AHCT1G00 silicon-based digital circuit chip significantly degraded under 60Co gamma-ray irradiation dose of 1 Mrad(Si),rendering it unable to perform the NAND gate logic function.Conclusion GaN-based digital circuit chips exhibit high radiation resistance in 60Co gamma-ray irradiation environments,with no significant performance degradation.Compared with silicon-based digital circuit chips,they demonstrate considerable advantages and can preliminarily meet the requirements for control chips of robots transporting injured personnel in nuclear radiation environments.
9.The relationship between normal high blood pressure and grade 1 hypertension in early pregnancy and maternal preeclampsia and adverse pregnancy outcomes
Jun LIU ; Fulin TIAN ; Lin CHEN ; Jian LI
The Journal of Practical Medicine 2025;41(10):1555-1562
Objective To investigate the effects of normal-high blood pressure and Grade 1 hypertension during early pregnancy on preeclampsia(PE)and adverse pregnancy outcomes in pregnant women.Methods A retrospective cohort study was conducted,enrolling 2,562 postpartum women who delivered at the Shiyan Maternal and Child Health Hospital from March 2020 to November 2023 as study participants.Prenatal examination data and delivery medical records were collected for analysis.Women were categorized into three groups based on blood pressure measurements taken before 20 weeks of gestation:normal blood pressure(n=2 029):systolic blood pressure<120 mmHg and diastolic blood pressure<80 mmHg;normal high blood pressure(n=375):systolic blood pressure 120~139 mmHg or diastolic blood pressure 80~89 mmHg;and Level 1 hypertension(n=158):systolic blood pressure 140~159 mmHg or diastolic blood pressure 90~99 mmHg.The incidence rates of PE and adverse pregnancy outcomes(including cesarean section,placental abruption,spontaneous preterm delivery[before 37 weeks],postpartum hemorrhage,stillbirth after 20 weeks of gestation,Apgar score<7,neonatal admission to the NICU,small for gestational age,macrosomia,and neonatal death within 28 days of birth)were compared and analyzed across the three groups.Cox regression analysis was performed to investigate the impact of early pregnancy blood pressure levels on the risk of PE and adverse pregnancy outcomes.Results(1)Women with normal high blood pressure had a 2.163-fold increased risk of PE compared to women with normal blood pressure(95%CI:1.228~3.809,P=0.007).However,there were no statistically significant differences in the rates of cesarean section(OR=1.341,95%CI:0.528~3.405,P=0.537),placental abruption(OR=1.016,95%CI:0.925~1.115,P=0.740),Apgar score<7(OR=1.422,95%CI:0.976~2.071,P=0.066),spontaneous preterm birth(OR=1.027,95%CI:0.925~1.140,P=0.617),postpartum bleeding(OR=1.141,95%CI:0.873~1.491,P=0.334),stillbirth after 20 weeks of gestation(OR=1.276,95%CI:0.980~1.661,P=0.070),neonatal admission to NICU(OR=1.301,95%CI:0.674~2.511,P=0.432),small for gestational age(OR=1.089,95%CI:0.927~1.279,P=0.299),macrosomia(OR=1.336,95%CI:0.824~2.166,P=0.240),or neonatal death within 28 days of birth(OR=1.275,95%CI:0.918~1.770,P=0.147).(2)Compared to women with normal blood pressure,women with grade 1 hypertension had a significantly higher risk of preeclampsia(OR=3.829,95%CI:1.749~8.385,P<0.001),cesarean section(OR=2.414,95%CI:1.298~4.489,P=0.005),and placental abruption(OR=2.537,95%CI:1.196~5.384,P=0.015).Additionally,they had a higher rate of Apgar score<7(OR=1.829,95%CI:1.069~3.130,P=0.027).No statistically significant differences were observed for spontaneous preterm birth(OR=1.404,95%CI:0.713~2.764,P=0.326),postpartum bleeding(OR=1.236,95%CI:0.845~1.807,P=0.274),stillbirth after 20 weeks of gestation(OR=1.076,95%CI:0.902~1.283,P=0.415),neonatal admission to NICU(OR=1.346,95%CI:0.873~2.075,P=0.178),small for gestational age(OR=1.417,95%CI:0.926~2.168,P=0.108),macrosomia(OR=1.235,95%CI:0.629~2.424,P=0.539),or neonatal death within 28 days of birth(OR=1.275,95%CI:0.918~1.770,P=0.147).(3)ROC analysis shows that when the sample combination was normal high blood pressure(n=375),the predictive/evaluative efficacy AUC of early pregnancy blood pressure values(threshold 139/89)for PE was 0.757.When the sample combination was level 1 hypertension(n=158),the predictive/evaluative efficacy AUC of early pregnancy blood pressure values(threshold 159/99)for four adverse outcomes,including PE,cesarean section,placental abruption,and Asperger's score<7,were 0.789,0.717,0.709,and 0.742,respectively.Conclusion Compared with pregnant and parturient women with normal blood pressure,having a normal high blood pressure or grade 1 hypertension before 20 weeks of pregnancy will significantly increase the risk of PE;in addition,grade 1 hypertension is also associated with a higher incidence of adverse pregnancy outcomes,including cesarean section,placental abruption,and low Apgar score of the newborn.
10.Design and implementation of disinfection and disinsection device based on centrifugal atomization principle
Jun-shu HAN ; Jian-xin CHEN ; Wei-wen YANG
Chinese Medical Equipment Journal 2025;46(4):35-39
Objective To design a centrifugal agtomization principle-based disinfection and disinsection device for plateau areas.Methods A disinfection and disinsection device was developed based on centrifugal atomization principle,which was composed of a spraying body,lifting and rotating mechanisms,an electrical control system,a spray tank and a sprayer carriage.The spraying body consisted of spraying components,a motor,an air blower,a fan and etc,and the spraying components adopted the structural form of multi-layer disc stacking to realize the atomization of liquid medicine;the lifting mechanism implemented up-and-down adjustment of the air blower through an electric actuartor,and the rotating mechanism executed left-and-right adjustment of the air blower thrgouth the worm gear motor and limit switch;the electrical control system was made up of a power source,electrical devices,a distribution system and a control system,in which a lead-acid battery pack was used for power supply and a DGUS touch screen and a DCS001 controller were involved in the control system;the spray tank was formed of a tank body,a needle valve,a water pump,float switch,etc;the sprayer carriage comprised a frame,a pusher,two sealing plates and four wheels.Some disc samples with different diameters were trial produced,and comparison experiments were carried out to investigate the relationship between disc diameter,motor speed,spray flow rate and atomization effect;a prototype was manufactured for performance testing of the device.Results The disc diameter and motor speed were inversely proportional to the droplet size;the spray flow rate was directly proportional to the droplet size,when the spray flow rate increased by 60%,the increment of the droplet size was restrained within 2%to 11%.The prototype test results indicated that the device could be used for ultra-low-volume disinfection and insecticide in plateau areas,with the D50 and D90 of the droplet size being 31 and 48 μm,respectively.Conclusion The device developed gains advantages in atomiztion,and meets the requirements for epidemic prevention,disinfection and disinsection in plateau areas.[Chinese Medical Equipment Journal,2025,46(4):35-39]

Result Analysis
Print
Save
E-mail