1.Impact of industrial and job changes among fishermen on schistosomiasis control following fishing ban and withdrawal in Poyang Lake areas
Chinese Journal of Schistosomiasis Control 2025;37(1):81-84
Objective To investigate the industrial and job changes among fishermen and their impact on economic incomes and schistosomiasis control following fishing ban and withdrawal in Poyang Lake areas, so as to provide insights into formulation of the schistosomiasis control strategy in these areas. Methods One township was selected as the study area from each of Duchang County, Poyang County and Yugan County around the Poyang Lake areas from May to June, 2023, and at least 500 fishermen at ages of 60 years and less were sampled from each township. Questionnaires were allocated to all subjects via the “Questionnaire Star” platform, including demographics, ratio of profits from different production activities before and after fishing ban and withdrawal, contact with infested water before and after fishing ban and withdrawal, and changes in household economic income before and after fishing ban and withdrawal. Subjects’ schistosomiasis examination and treatment data, and development of schistosomiasis hepatic fibrosis and advanced schistosomiasis were collected from 2016 to 2023. The changes in economic incomes, contact with infested water, sero-prevalence of human schistosomiasis, and proportions of schistosomiasis examinations and treatments were compared among study subjects. Results A total of 2 449 fishermen with an average age of (49.55 ± 8.86) years were investigated, including 1 654 full-time fishermen (67.54%) and 795 part-time fishermen (32.46%). The ratios of profits from fishing activities reduced from 88.15% and 34.82% before fishing ban and withdrawal to < 0.01% and 0.03% after fishing ban and withdrawal among full-time and part-time fishermen, while the ratios of profits from other production activities increased. The proportion of full-time fishermen who thought a reduction or a large reduction in their economic incomes was 79.93% (1 322/1 654), which was higher than that (66.79%, 531/795) of part-time fishermen (χ2 = 50. 307, P < 0.001), and the proportion of part-time fishermen who thought minor changes in their economic incomes was 15.60% (124/795), which was higher than that (4.11%, 68/1 654) of full-time fishermen (χ2 = 96.274, P < 0.001). There was a reduction in the contact with infested water among fishermen following fishing ban and withdrawal, and the proportions of respondents that had no contact, a large reduction in contact and a reduction in contact with infested water were 14.74% (361/2 449), 57.78% (1 415/2 449) and 26.05% (638/2 449), respectively. In addition, the sero-prevalence of schistosomiasis, and proportions of schistosomiasis examinations and treatments decreased from 9.79%, 87.14%, and 97.80% in 2016 to 4.38%, 53.16%, and 71. 51% in 2023 among fishermen in Duchang County, Poyang County and Yugan County (χ2 = 6.944, 865.194, 238.953, all P values < 0.01), and the prevalence of schistosomiasis liver fibrosis and advanced schistosomiasis was 42.64% (826/1 937) and 6.08% (149/2 449) among study subjects, respectively. Conclusions Industrial and job changes among fishermen are beneficial for schistosomiasis control after fishing ban and withdrawal in Poyang Lake areas; however, there is an increased difficulty for management of fishermen due to an increase in number of migrant labors and other factors.
2.Seroprevalence and influencing factors of low-level neutralizing antibodies against SARS-CoV-2 in community residents
Shiying YUAN ; Jingyi ZHANG ; Huanyu WU ; Weibing WANG ; Genming ZHAO ; Xiao YU ; Xiaoying MA ; Min CHEN ; Xiaodong SUN ; Zhuoying HUANG ; Zhonghui MA ; Yaxu ZHENG ; Jian CHEN
Shanghai Journal of Preventive Medicine 2025;37(5):403-409
ObjectiveTo understand the seropositivity of neutralizing antibodies (NAb) and low-level NAb against SARS-CoV-2 infection in the community residents, and to explore the impact of COVID-19 vaccination and SARS-CoV-2 infection on the levels of NAb in human serum. MethodsOn the ground of surveillance cohort for acute infectious diseases in community populations in Shanghai, a proportional stratified sampling method was used to enroll the subjects at a 20% proportion for each age group (0‒14, 15‒24, 25‒59, and ≥60 years old). Blood samples collection and serum SARS-CoV-2 NAb concentration testing were conducted from March to April 2023. Low-level NAb were defined as below the 25th percentile of NAb. ResultsA total of 2 230 participants were included, the positive rate of NAb was 97.58%, and the proportion of low-level NAb was 25.02% (558/2 230). Multivariate logistic regression analysis indicated that age, infection history and vaccination status were correlated with low-level NAb (all P<0.05). Individuals aged 60 years and above had the highest risk of low-level NAb. There was a statistically significant interaction between booster vaccination and one single infection (aOR=0.38, 95%CI: 0.19‒0.77). Compared to individuals without vaccination, among individuals infected with SARS-CoV-2 once, both primary immunization (aOR=0.23, 95%CI: 0.16‒0.35) and booster immunization (aOR=0.12, 95%CI: 0.08‒0.17) significantly reduced the risk of low-level NAb; among individuals without infections, only booster immunization (aOR=0.28, 95%CI: 0.14‒0.52) showed a negative correlation with the risk of low-level NAb. ConclusionsThe population aged 60 and above had the highest risk of low-level NAb. Regardless of infection history, a booster immunization could reduce the risk of low-level NAb. It is recommended that eligible individuals , especially the elderly, should get vaccinated in a timely manner to exert the protective role of NAb.
3.Efficacy and Safety of Chinese Medicine Resuscitation Pack for Enhanced Recovery after Bronchoscopy: A Randomized, Single-Blind, Placebo-Controlled Clinical Trial.
Xin-Yuan TAN ; Yao YAO ; Jing-Min XIAO ; Yuan-Bin CHEN ; Ming LIN ; Xiao-Shan ZHANG ; Dan-Yan CAI ; Zhen-Hu WU ; Li-Li SUN ; Fei-Ting FAN ; Yin-Ji XU
Chinese journal of integrative medicine 2025;31(5):441-447
OBJECTIVE:
To evaluate the efficacy and safety of a hospital-made resuscitation pack, a Chinese medicinal herbal compound formula designed to enhance recovery in post-bronchoscopy patients.
METHODS:
In this randomized, single-blind, placebo-controlled clinical trial, eligible patients were randomly assigned 1:1 to either the treatment or control groups. The patients in the treatment group applied the resuscitation pack, which contained aromatic compounded Chinese herbs. The patients in the control group applied a hospital-made, single herb placebo pack. Packs were placed on the Tiantu (CV 22) acupuncture point for 4 h as soon as the bronchoscopy finished. Efficacy indicators, such as recovery time, patients' symptoms including nausea and dizziness, and adverse events (AEs) were observed and compared. The outcome indices were evaluated at baseline, 1 and 24 h after the bronchoscopy. Subgroup analysis was further performed by patients' age and depth of sedation.
RESULTS:
When applying generalized estimating equations (GEE) to evaluate the intensity of post-bronchoscopy nausea and vomiting, the intensity was lower in the treatment group (163 cases) compared with the control group (162 cases; 95% CI: 0.004, 0.099, P=0.03]. Also, significantly lower intensity of nausea was observed in the 60-70 years of age subgroup (95% CI: 0.029, 0.169, P=0.006) and deep sedation subgroup (95% CI: 0.002, 0.124; P=0.04). There was no significant difference in dizziness between two groups by GEE (95% CI: -0.134, 0.297; P=0.459). In addition, no serious AEs were observed in either group.
CONCLUSIONS
Our study found that the resuscitation pack markedly improved patients' symptoms by reducing nausea and vomiting after bronchoscopy without AEs, compared with placebo in the perioperative period. (Trial registration No. ChiCTR2000038299).
Humans
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Male
;
Middle Aged
;
Female
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Bronchoscopy/adverse effects*
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Single-Blind Method
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Aged
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Drugs, Chinese Herbal/adverse effects*
;
Treatment Outcome
;
Resuscitation
;
Adult
;
Medicine, Chinese Traditional
4.Comprehensive Analysis of Oncogenic, Prognostic, and Immunological Roles of FANCD2 in Hepatocellular Carcinoma: A Potential Predictor for Survival and Immunotherapy.
Meng Jiao XU ; Wen DENG ; Ting Ting JIANG ; Shi Yu WANG ; Ru Yu LIU ; Min CHANG ; Shu Ling WU ; Ge SHEN ; Xiao Xue CHEN ; Yuan Jiao GAO ; Hongxiao HAO ; Lei Ping HU ; Lu ZHANG ; Yao LU ; Wei YI ; Yao XIE ; Ming Hui LI
Biomedical and Environmental Sciences 2025;38(3):313-327
OBJECTIVE:
Hepatocellular carcinoma (HCC) is sensitive to ferroptosis, a new form of programmed cell death that occurs in most tumor types. However, the mechanism through which ferroptosis modulates HCC remains unclear. This study aimed to investigate the oncogenic role and prognostic value of FANCD2 and provide novel insights into the prognostic assessment and prediction of immunotherapy.
METHODS:
Using clinicopathological parameters and bioinformatic techniques, we comprehensively examined the expression of FANCD2 macroscopically and microcosmically. We conducted univariate and multivariate Cox regression analyses to identify the prognostic value of FANCD2 in HCC and elucidated the detailed molecular mechanisms underlying the involvement of FANCD2 in oncogenesis by promoting iron-related death.
RESULTS:
FANCD2 was significantly upregulated in digestive system cancers with abundant immune infiltration. As an independent risk factor for HCC, a high FANCD2 expression level was associated with poor clinical outcomes and response to immune checkpoint blockade. Gene set enrichment analysis revealed that FANCD2 was mainly involved in the cell cycle and CYP450 metabolism.
CONCLUSION
To the best of our knowledge, this is the first study to comprehensively elucidate the oncogenic role of FANCD2. FANCD2 has a tumor-promoting aspect in the digestive system and acts as an independent risk factor in HCC; hence, it has recognized value for predicting tumor aggressiveness and prognosis and may be a potential biomarker for poor responsiveness to immunotherapy.
Humans
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Carcinoma, Hepatocellular/diagnosis*
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Liver Neoplasms/diagnosis*
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Immunotherapy
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Fanconi Anemia Complementation Group D2 Protein/metabolism*
;
Prognosis
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Male
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Female
;
Middle Aged
;
Biomarkers, Tumor/metabolism*
5.Isolation of Enterobacteriaceae strains carrying mcr-1 resistance gene from Shanghai wastewater treatment plants and quantification of their copy number
Jun FENG ; Mingxiang LIU ; Yuan ZHUANG ; Miao PAN ; Qian LIU ; Yong CHEN ; Jiayuan LUO ; Jiayi FEI ; Yitong WU ; Yanqi ZHU ; Jing ZHANG ; Min CHEN
Shanghai Journal of Preventive Medicine 2024;36(3):217-223
ObjectiveTo provide technical support for the molecular surveillance of pathogenic bacteria strains carrying mobile colistin resistance-1 (mcr⁃1) gene isolate from inlet of wastewater treatment plants (WWTP). MethodsThe Enterobacteriaceae strains carrying mcr⁃1 resistance gene isolate from inlet of WWTP during April 1 to June 30, 2023 in Shanghai were cultured on blood-rich and SS culture medium and were identified using a mass spectrometry analyzer. The mcr⁃1 gene and copy number were detected by real-time fluorescence quantitative PCR. Drug susceptibility test was performed by microbroth dilution method. The copy numbers of Escherichia coli carrying mcr⁃1 gene isolated from wastewater and human fecel were statistically analyzed by SPSS 25.0. ResultsA total of 14 strains carrying the mcr⁃1 gene were isolated from 49 WWTP samples, and the positive isolation rate was 28.6%, including 12 non-diarrheal E. coli strains and 2 Klebsiella pneumoniae strains. The drug susceptibility results showed that all 14 strains were multi-drug resistant bacteria. They were all sensitive to imipenem and tigecycline, but were ampicillin- and cefazolin-resistant. There was no significant difference in the copy number between human-sourced diarrheal E. coli and wastewater-sourced non-diarrheal E. coli (t=0.647, P>0.05). ConclusionThe isolation and identification of strains carrying the mcr⁃1 gene from inlet of WWTP samples were firstly established in Shanghai. The multi-drug resistance among the isolated strains is severe. To effectively prevent and control the spread of colistin-resistant bacteria, more attention should be paid to the surveillance of mcr⁃1 gene.
6.Clinical Observation on Therapeutic Effect of Huatan Jieyu Anshen Decoction Combined with Abdominal Vibration Tuina Manipulations on Chronic Insomnia in the Elderly
Pei FAN ; Xiao YANG ; Yue-Xing LI ; Yan-Kun REN ; Yu-Xin YUAN ; Qing-Min WU
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(4):840-847
Objective To investigate the therapeutic effect of Huatan Jieyu Anshen Decoction(mainly with the actions of resolving phlegm,relieving depression and calming mind)combined with abdominal vibration tuina manipulations on chronic insomnia in the elderly.Methods Ninety-four cases of elderly patients with chronic insomnia of phlegm-heat harassing the interior type were randomly divided into the observation group and the control group,with 47 cases in each group.The control group was given Huatan Jieyu Anshen Decoction orally,while the observation group was given oral use of Huatan Jieyu Anshen Decoction combined with abdominal vibration tuina manipulations.The course of treatment for the two groups lasted for 4 weeks.Before and after the treatment,the two groups were observed in the changes of traditional Chinese medicine(TCM)syndrome scores,Pittsburgh Sleep Quality Index(PSQI)score,Athens Insomnia Scale(AIS)score,Fatigue Scale-14(FS-14)score,World Health Organization Quality-of-Life Brief Scale(WHOQOL-BREF)score,and the serum levels of melatonin(MT),dopamine(DA),and cortisol(CORT).After treatment,the clinical efficacy of the two groups was evaluated.Results(1)After 4 weeks of treatment,the total effective rate of the observation group was 97.88%(46/47),while that of the control group was 87.23%(41/47),and the intergroup comparison(tested by chi-square test)showed that the therapeutic efficacy of the observation group was superior to that of the control group(P<0.01).(2)After treatment,the scores of primary and secondary TCM symptoms in the two groups were significantly decreased compared with those before treatment(P<0.05),and the decrease of the scores of primary and secondary TCM symptoms in the observation group was significantly superior to that in the control group(P<0.01).(3)After treatment,the PSQI scores,AIS scores,and FS-14 scores in the two groups were significantly decreased compared with those before treatment(P<0.05),and the WHOQOL-BREF scores were significantly increased compared with those before treatment(P<0.05).The decrease of the PSQI scores,AIS scores and FS-14 scores as well as the increase of the WHOQOL-BREF scores in the observation group was significantly superior to that in the control group(P<0.01).(4)After treatment,the serum MT level of both groups was significantly higher than that before treatment(P<0.05),and the serum DA and CORT levels were significantly lower than those before treatment(P<0.05).The increase in serum MT level and the decrease in serum DA and CORT levels of the observation group were significantly superior to those of the control group(P<0.01).Conclusion The combined therapy of Huatan Jieyu Anshen Decoction combined with vibration tuina manipulations can achieve satisfactory efficacy in the elderly patients with chronic insomnia of phlegm-heat harassing the interior syndrome.The therapy is effective on regulating the central nervous system of the patients,improving the quality of the sleep,and promoting the relief of fatigue and the enhancement of the quality of life,which has great significance to the enhancement of the overall therapeutic efficacy of insomnia.
7.Correlation analysis of frailty and health literacy in elderly patients with chronic cardiac insufficiency
Yinyin WU ; Yuan MA ; Junkai DOU ; Min JIAO ; Yiran WU ; Xiubin TAO
Journal of Shenyang Medical College 2024;26(1):18-24
Objective:To analyze the correlation between frailty and health literacy in elderly patients with chronic cardiac insufficiency.Methods:The convenience sampling method was used to select 290 elderly patients with chronic cardiac insufficiency who were hospitalized in the Department of Geriatrics and Department of Cardiovascular Medicine of a tertiary first-class hospital in Wuhu City from Mar 2022 to Jun 2022.The patients were investigated with the general information questionnaire,FRAIL scale,Health Literacy Management Scale,etc.Spearman analysis was used to analyze the correlation between frailty and health literacy.Binary logistic regression were used to analyze the risk factors of frailty in elderly patients with chronic cardiac insufficiency.Results:The incidence of frailty in elderly patients with chronic cardiac insufficiency was 22.8% .Spearman analysis showed that the total score of health literacy was negatively correlated with frailty(r=-0.291,P= 0.000).Results of binary logistic regression analysis showed that health literacy score(OR=0.419,95% CI:0.266-0.908),long-term insomnia(OR=6.466,95% CI:2.099-19.914),nutritional risk(OR=11.202,95% CI:3.983-31.508),depression risk(OR=10.014,95% CI:1.963-51.075),chronic disease types≥5(OR=12.784,95% CI:3.811-42.878),exercise self-efficacy(OR=0.512,95% CI:0.304-0.956),and chronic disease information acquisition ability(OR=0.512,95% CI:0.304-0.956)were independent predictors of frailty in elderly patients with chronic cardiac insufficiency(P<0.05).Conclusions:The incidence of frailty in elderly patients with chronic cardiac insufficiency is high,and clinical staff should pay more attention to the elderly with frailty,especially patients with long-term insomnia,risk of nutrition and depression,coexistence of chronic diseases,low level of health literacy and exercise self-efficacy.Targeted measures should be actively taken to improve the quality of life of patients and reduce the readmission rate.
8.Clinical characteristics and prognosis of male dermatomyositis patients with positive anti-melanoma differentiation associated gene 5 antibody
Yitian SHI ; Fenghong YUAN ; Ting LIU ; Wenfeng TAN ; Ju LI ; Min WU ; Zhanyun DA ; Hua WEI ; Lei ZHOU ; Songlou YIN ; Jian WU ; Yan LU ; Dinglei SU ; Zhichun LIU ; Lin LIU ; Longxin MA ; Xiaoyan XU ; Yinshan ZANG ; Huijie LIU ; Tianli REN
Chinese Journal of Rheumatology 2024;28(1):44-49
Objective:To investigate the clinical features and prognosis of male with anti-melanoma differentiation-associated gene 5 (MDA5) autoantibody.Methods:The clinical data of 246 patients with DM and anti-MDA5 autoantibodies hospitalized by Jiangsu Myositis Cooperation Group from 2017 to 2020 were collected and retrospectively analyzed. Chi-square test was performed to compared between counting data groups; Quantitative data were expressed by M ( Q1, Q3), and rank sum test was used for comparison between groups; Single factor survival analysis was performed by Kaplan-Meier method and Log rank test; Cox regression analysis were used for multivariate survival analysis. Results:①The male group had a higher proportion of rash at the sun exposure area [67.1%(47/70) vs 52.8%(93/176), χ2=4.18, P=0.041] and V-sign [50.0%(35/70) vs 30.7%(54/176), χ2=8.09, P=0.004] than the female group. The male group had higher levels of creatine kinase [112(18, 981)U/L vs 57 (13.6, 1 433)U/L, Z=-3.50, P<0.001] and ferritin [1 500 (166, 32 716)ng/ml vs 569 (18, 14 839)ng/ml, Z=-5.85, P<0.001] than the female group. The proportion of ILD [40.0%(28/70) vs 59.7%(105/176), χ2=7.82, P=0.020] patients and the red blood cell sedimentation rate[31.0(4.0, 101.5)mm/1 h vs 43.4(5.0, 126.5)mm/1 h, Z=-2.22, P=0.026] in the male group was lower than that of the female group, but the proportion of rapidly progressive interstitial lung disease (PR-ILD) [47.1%(33/70) vs 31.3%(55/176), χ2=5.51, P=0.019] was higher than that of the female group. ②In male patients with positive anti-MDA5 antibodies,the death group had a shorter course of disease[1.0(1.0, 3.0) month vs 2.5(0.5,84) month, Z=-3.07, P=0.002], the incidence of arthritis [16.7%(4/24) vs 42.2%(19/45), χ2=4.60, P=0.032] were low than those in survival group,while aspartate aminotransferase (AST)[64(22.1, 565)U/L vs 51(14,601)U/L, Z=-2.42, P=0.016], lactate dehydrogenase (LDH) [485(24,1 464)U/L vs 352(170, 1 213)U/L, Z=-3.38, P=0.001], C-reactive protein (CRP) [11.6(2.9, 61.7) mg/L vs 4.95(0.6, 86.4) mg/L, Z=-1.96, P=0.050], and ferritin levels [2 000(681, 7 676) vs 1 125 (166, 32 716)ng/ml, Z=-3.18, P=0.001] were higher than those in the survival group, and RP-ILD [95.8%(23/24) vs 22.2%(10/45), χ2=33.99, P<0.001] occurred at a significantly higher rate. ③Cox regression analysis indicated that the course of disease LDH level, and RP-ILD were related factors for the prognosis of male anti-MDA5 antibodies [ HR (95% CI)=0.203(0.077, 0.534), P=0.001; HR (95% CI)=1.002(1.001, 1.004), P=0.003; HR (95% CI)=95.674 (10.872, 841.904), P<0.001]. Conclusion:The clinical manifestations of male anti-MDA5 antibody-positive patients are different from those of female. The incidence of ILD is low, but the proportion of PR-ILD is high. The course of disease, serum LDH level, and RP-ILD are prognostic factors of male anti-MDA5 antibody-positive patients.
9.TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children
Xi MING ; Liqun WU ; Ziwei WANG ; Bo WANG ; Jialin ZHENG ; Jingwei HUO ; Mei HAN ; Xiaochun FENG ; Baoqing ZHANG ; Xia ZHAO ; Mengqing WANG ; Zheng XUE ; Ke CHANG ; Youpeng WANG ; Yanhong QIN ; Bin YUAN ; Hua CHEN ; Lining WANG ; Xianqing REN ; Hua XU ; Liping SUN ; Zhenqi WU ; Yun ZHAO ; Xinmin LI ; Min LI ; Jian CHEN ; Junhong WANG ; Yonghong JIANG ; Yongbin YAN ; Hengmiao GAO ; Hongmin FU ; Yongkun HUANG ; Jinghui YANG ; Zhu CHEN ; Lei XIONG
Journal of Nanjing University of Traditional Chinese Medicine 2024;40(7):722-732
Following the principles of evidence-based medicine,in accordance with the structure and drafting rules of standardized documents,based on literature research,according to the characteristics of chronic cough in children and issues that need to form a consensus,the TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children was formulated based on the Delphi method,expert discussion meetings,and public solicitation of opinions.The guideline includes scope of application,terms and definitions,eti-ology and diagnosis,auxiliary examination,treatment,prevention and care.The aim is to clarify the optimal treatment plan of Chinese medicine in the diagnosis and treatment of this disease,and to provide guidance for improving the clinical diagnosis and treatment of chronic cough in children with Chinese medicine.
10.Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease
Han GAO ; Xianghui HUANG ; Weicheng CHEN ; Zhiyu FENG ; Zhengshan ZHAO ; Ping LI ; Chaozhong TAN ; Jinxin WANG ; Quannan ZHUANG ; Yuan GAO ; Shaojie MIN ; Qinyu YAO ; Maoxiang QIAN ; Xiaojing MA ; Feizhen WU ; Weili YAN ; Wei SHENG ; Guoying HUANG
Chinese Medical Journal 2024;137(15):1823-1834
Background::Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.Methods::Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, and PNPLA4 was identified as the leading candidate gene. To validate, we generated PNPLA4-overexpressing human induced pluripotent stem cell lines as well as pnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular analyses. Results::Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, and PNPLA4 in the Xp22.31 was a candidate gene associated with HTX/CHD. PNPLA4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series of in vivo and in vitro analyses at the molecular and cellular levels, we revealed that the biological function of PNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP production. Conclusions::Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose of PNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.

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