1.Impact of peripheral blood inflammatory markers on neovascular glaucoma secondary to diabetic retinopathy
Mingfang WANG ; Wenwen ZHU ; Deyu XIA ; Dengrui XU ; Yawen SHI ; Hongchen FU ; Qian ZHAO ; Xiuyun LI
International Eye Science 2025;25(6):1005-1008
AIM: To investigate the influence of relevant inflammatory markers in peripheral blood on the progression of neovascular glaucoma(NVG)secondary to diabetic retinopathy(DR)patients.METHODS: Retrospective case-control study. Patients were categorized into two groups based on the presence or absence of NVG: those with proliferative diabetic retinopathy(PDR)alone(PDR group, n=148)and those with NVG secondary to PDR(NVG secondary to PDR group, n=142). Peripheral blood inflammatory markers were evaluated, including white blood cell-related indices, neutrophil-to-lymphocyte ratio(NLR), platelet-to-lymphocyte ratio(PLR), monocyte-to-lymphocyte ratio(MLR), and systemic immune-inflammation index(SII). The distinctions in peripheral blood inflammatory markers between the two groups of patients and their relationships with NVG secondary to PDR were analyzed.RESULTS:No statistically significant differences were observed in basic characteristics between the two groups, confirming their comparability. However, significant differences were found in eosinophil percentage and MLR between the PDR group and the NVG secondary to PDR group(all P<0.05), with both values being significantly higher in the NVG secondary to PDR group. Multivariate Logistic regression analysis revealed that the eosinophil percentage and the MLR were factors influencing the development of patients with NVG secondary to PDR.CONCLUSION: Eosinophil percentage and MLR may be associated with the progression of PDR to NVG, and could serve as potential predictive markers for NVG development in PDR patients.
2.Correlation between attentional cognitive function and symptoms in school aged children with attention deficit hyperactivity disorder
DUAN Guiqin, ZHAO Mingfang, WANG Ganyu, YIN Jiabao, NIE Wenhao, JIN Tingting, WANG Xiaoyu
Chinese Journal of School Health 2025;46(6):827-831
Objective:
To investigate the attention cognitive function and symptom correlations of school aged children with attention deficit hyperactivity disorder (ADHD)using event related potential (ERP) technology, so as to provide references for the early diagnosis of children with ADHD.
Methods:
A total of 52 school aged children diagnosed with ADHD at the outpatient department of the Third Affiliated Hospital of Zhengzhou University from September 2022 to September 2024 and 50 age /sex matched healthy controls were selected. The ERP experiment adopted the auditory Oddball task to conduct comparative analyses of the amplitude and latency of the mismatch negative(MMN) at the Fz, Cz, and Pz points of the scalp electrode and the P3a component respectively. The symptom assessment scales adopted the Swanson,Nolan,and Pelham-Ⅳ Rating Scale (SNAP-Ⅳ) and the Parent Symptom Questionnaire (PSQ), which were filled out by the parents. Spearman correlation analysis was used to analyze the correlation between ERP components and symptoms in schoolaged children with ADHD.
Results:
The latency of MMN components in the healthy control group on the Fz lead was (188.30±2.06)ms, and the amplitude was (-15.54±1.35)μV; the latency of the P3a component on the Pz lead was (312.82±7.80)ms, and the amplitude was (3.80±0.18)μV. The latency of MMN components in the ADHD group on the Fz lead was (188.94±1.39)ms, and the amplitude was (-14.78±1.40)μV; the latency of the P3a component on the Pz lead was (317.21±5.65)ms, and the amplitude was (3.70±0.13)μV. Compared with normal children, the MMN of children with ADHD had smaller amplitudes in the Fz and Cz leads, and the P3a had greater latency and smaller amplitudes in the Cz and Pz leads ( t =2.79,2.20;-2.04,-3.25;2.35,3.21, P <0.05). Correlation analysis showed that the latency of MMN in children with ADHD was positively correlated with the inattention score in the SNAP-Ⅳ( r =0.22), and the amplitude of MMN was negatively correlated with the inattention score in the SNAP-Ⅳ and the learning problem score in PSQ ( r = -0.26 , -0.34)( P <0.05). The latency of P3a was positively correlated with the scores of inattention in the SNAP-Ⅳ and the score of learning problems in the PSQ ( r =0.26 ,0.24); the amplitude of P3a was negatively correlated with the scores of attention deficit and hyperactivity/impulsivity in the SNAP-Ⅳ and the scores of learning problems and impulsivity/hyperactivity in the PSQ( r = -0.26 , -0.22, -0.25,-0.32)( P <0.05).
Conclusions
School aged ADHD children exhibit abnormal MMN/P3a components, indicating attention related cognitive dysfunction. Symptoms such as inattention, learning problems and hyperactivity/impulsivity in children with ADHD are related to abnormal components of MMN and P3a.
3.Effects of long-snake moxibustion combined with modified Duhuo Jisheng Decoction on inflammatory factors and lumbar function in patients with liver-kidney deficiency pattern of lumbar disc herniation
Mingfang LYU ; Xiaoyan ZHU ; Kangmin WAN ; Yan WANG
Journal of Beijing University of Traditional Chinese Medicine 2024;47(8):1171-1176
Objective This study aimed to investigate the clinical effect of long-snake moxibustion combined with modified Duhuo Jisheng Decoction in the treatment of the liver-kidney deficiency pattern of lumbar disc herniation. Methods All patients with liver-kidney deficiency pattern of lumbar disc herniation admitted to Nanchang Hongdu Hospital of Traditional Chinese Medicine from March 2021 to April 2023 were assigned the control group and the experimental group by random number table method,with 68 cases in each group. The control group was treated with conventional Western medicine,and the experimental group was treated with long-snake moxibustion combined with modified Duhuo Jisheng Decoction based on the control group for four consecutive weeks. Observe the clinical efficacy,the Japanese Orthopedic Association (JOA) score,and traditional Chinese medicine syndrome score of two groups of patients. Detect the serum levels of prostaglandin E2 (PGE2),transforming growth factor-β 1 (TGF-β1),interleukin-1β (IL-1β),matrix metalloproteinase-2 (MMP-2),and hypoxia-inducible factor-1α (HIF-1α) in two groups of patients. Results Compared with the control group (79.41%),the clinical efficaly of experimental group (94.12%) was increased (P<0.05). Compared with before treatment,TCM syndrome score of 2 groups was decreased,JOA score was increased,serum PGE2,TGF-β1,MMP-2,HIF-1α,and IL-1β were decreased after treatment (P<0.05). After treatment,compared with control group,TCM syndrome score of experimental group was decreased,JOA score was increased,serum PGE2,TGF-β1,MMP-2,HIF-1α,and IL-1β were decreased (P<0.05). Conclusion Long-snake moxibustion combined with modified Duhuo Jisheng Decoction can significantly reduce the inflammatory response of patients with liver-kidney deficiency pattern of lumbar disc herniation,inhibit the secretion of pain mediators,improve lumbar function,and thus improve clinical efficacy.
4.Different methods in predicting mortality of pediatric intensive care units sepsis in Southwest China
Rong LIU ; Zhicai YU ; Changxue XIAO ; Shufang XIAO ; Juan HE ; Yan SHI ; Yuanyuan HUA ; Jimin ZHOU ; Guoying ZHANG ; Tao WANG ; Jianyu JIANG ; Daoxue XIONG ; Yan CHEN ; Hongbo XU ; Hong YUN ; Hui SUN ; Tingting PAN ; Rui WANG ; Shuangmei ZHU ; Dong HUANG ; Yujiang LIU ; Yuhang HU ; Xinrui REN ; Mingfang SHI ; Sizun SONG ; Jumei LUO ; Juan LIU ; Juan ZHANG ; Feng XU
Chinese Journal of Pediatrics 2024;62(3):204-210
Objective:To investigate the value of systemic inflammatory response syndrome (SIRS), pediatric sequential organ failure assessment (pSOFA) and pediatric critical illness score (PCIS) in predicting mortality of pediatric sepsis in pediatric intensive care units (PICU) from Southwest China.Methods:This was a prospective multicenter observational study. A total of 447 children with sepsis admitted to 12 PICU in Southwest China from April 2022 to March 2023 were enrolled. Based on the prognosis, the patients were divided into survival group and non-survival group. The physiological parameters of SIRS, pSOFA and PCIS were recorded and scored within 24 h after PICU admission. The general clinical data and some laboratory results were recorded. The area under the curve (AUC) of the receiver operating characteristic curve was used to compare the predictive value of SIRS, pSOFA and PCIS in mortality of pediatric sepsis.Results:Amongst 447 children with sepsis, 260 patients were male and 187 patients were female, aged 2.5 (0.8, 7.0) years, 405 patients were in the survival group and 42 patients were in the non-survival group. 418 patients (93.5%) met the criteria of SIRS, and 440 patients (98.4%) met the criteria of pSOFA≥2. There was no significant difference in the number of items meeting the SIRS criteria between the survival group and the non-survival group (3(2, 4) vs. 3(3, 4) points, Z=1.30, P=0.192). The pSOFA score of the non-survival group was significantly higher than that of the survival group (9(6, 12) vs. 4(3, 7) points, Z=6.56, P<0.001), and the PCIS score was significantly lower than that of the survival group (72(68, 81) vs. 82(76, 88) points, Z=5.90, P<0.001). The predictive value of pSOFA (AUC=0.82) and PCIS (AUC=0.78) for sepsis mortality was significantly higher than that of SIRS (AUC=0.56) ( Z=6.59, 4.23, both P<0.001). There was no significant difference between pSOFA and PCIS ( Z=1.35, P=0.176). Platelet count, procalcitonin, lactic acid, albumin, creatinine, total bilirubin, activated partial thromboplastin time, prothrombin time and international normalized ratio were all able to predict mortality of sepsis to a certain degree (AUC=0.64, 0.68, 0.80, 0.64, 0.68, 0.60, 0.77, 0.75, 0.76, all P<0.05). Conclusion:Compared with SIRS, both pSOFA and PCIS had better predictive value in the mortality of pediatric sepsis in PICU.
5.Validity and reliability of the Chinese version of the Perceived Stressors in Intensive Care Units Scale
Aiping HU ; Jia WANG ; Qimin ZHOU ; Yuanqiu HUANG ; Shuang YANG ; Yuqi SHEN ; Mingfang XIANG
Chinese Mental Health Journal 2024;38(8):686-692
Objective:To translate the perceived stressors in intensive care units Scale into Chinese version,and to validate its validity and reliability and in intensive healthcare professionals.Methods:The Perceived Stressors in Intensive Care Units Scale was translated according to the Brislin translation model.After cultural adjustment,495 ICU healthcare professionals were selected to evaluate the validity and reliability of the scale,and univariate analysis was conducted on the scores of the Scale with different characteristics.Results:The Chinese version of the scale re-tained 40 items,and 6 common factors were extracted after exploratory factor analysis.The cumulative variance contribution rate reached 58.21%.Confirmatory factor analysis showed a basic fit of the model(x2/df=2.85,CFI=0.93,TLI=0.93,RMSEA=0.09).The total Cronbach coefficient of the scale was 0.940 and the split-half relia-bility was 0.87.The retest reliability after 2 weeks was 0.92.The item-level content validity index of the Chinese version of The Perceived Stressors in Intensive Care Units Scale was 0.83~1.00,the scale-level content validity index was 0.93,and the average content validity was 0.98.Comparison of the total scores of scale among ICU healthcare professionals with different occupations,professional titles,marital status and working years showed sta-tistically significant differences(P<0.05).Conclusion:The Chinese version of the Perceived Stressors in Intensive Care Units Scale is proved to be a good instrument with acceptable validity and reliability.
6.Duration of second stage of labor and its association with pregnancy outcome
Tianying ZHU ; Junnan MA ; Xiaohong LI ; Mingfang WANG ; Mingyu DU ; Shengnan YU ; Dajin LIU ; Runmei MA
Chinese Journal of Perinatal Medicine 2023;26(3):186-193
Objective:To analyze the duration of the second stage of labor without epidural anesthesia and its association with pregnancy outcome.Methods:This retrospective study involved 12 789 women who delivered without epidural anesthesia in the First Affiliated Hospital of Kunming Medical University from January 1, 2014 to December 31, 2017. These subjects were divided into primipara group (9 517 cases) and multipara group (3 272 cases). Demographic characteristics, maternal and neonatal outcomes and the duration of the second stage of labor were compared between the two groups using two independent samples t-test, Mann-Whitney U test and Chi-square test (Fisher's exact test). Differences in the maternal and neonatal outcomes were also analyzed among different subgroups in primiparae [length of second stage: <1 h group ( n=6 265), ≥1-2 h group ( n=2 305), ≥2-3 h group ( n=831) and ≥3 h group ( n=116)] and multiparae [length of second stage <1 h group ( n=3 144), ≥1-2 h group ( n=102) and ≥2 h group ( n=26)]. The association between second stage length and pregnancy outcomes was analyzed with Cramer's V. After adjusted for maternal age, gestational weeks at delivery, body mass index before pregnancy, complications during pregnancy and neonatal birth weight, the relationship between the duration of the second stage and adverse outcomes was analyzed by binary logistic regression analysis. Results:The 95 th percentile of the second-stage labor duration was 143 min for primiparae and 52 min for multiparae. The rates of vaginal delivery, forceps delivery, cesarean section in the second stage, episiotomy, third- or fourth-degree perineal laceration, postpartum hemorrhage, grade Ⅱ postpartum hemorrhage, transfusion, umbilical arterial blood gas pH<7.15 and transferring to neonatal intensive care unit (NICU) were all correlated with the duration of second stage in primiparae (Cramer's V values: 0.22, 0.23, 0.03, 0.22, 0.05, 0.10, 0.03, 0.03, 0.03 and 0.07, respectively, all P<0.05), and so did those of vaginal delivery, forceps delivery, episiotomy, postpartum hemorrhage, grade Ⅱ postpartum hemorrhage, transfusion and transferring to NICU in multiparae (Cramer's V values: 0.18, 0.19, 0.28, 0.14, 0.09, 0.13 and 0.06, respectively, all P<0.05). Logistic analysis showed that in primiparae, the duration of second stage >1 h was an independent risk factor for episiotomy, third- or fourth-degree perineum laceration, forceps delivery, postpartum hemorrhage, admission to NICU and umbilical arterial blood gas pH<7.15 [adjusted OR (95% CI): 2.080 (1.907-2.268), 1.773 (1.080-2.911), 1.625 (1.420-1.859), 1.365 (1.231- 1.514), 1.305 (1.165-1.462) and 1.246 (1.081-1.436), respectively], while second stage length >2 h was the independent risk factor for episiotomy, forceps delivery, third- or fourth-degree perineum laceration, postpartum hemorrhage, grade Ⅱ postpartum hemorrhage, blood transfusion, admission to NICU and umbilical arterial blood gas pH<7.15 [adjusted OR (95% CI): 4.844 (4.132-5.678), 4.223 (3.571-4.993), 3.289 (1.806-5.989), 1.952 (1.675-2.274), 1.781 (1.057-3.001), 1.654 (1.025-2.668), 1.682 (1.421-1.991) and 1.298 (1.039-1.620), respectively]. In multiparae, the length of second stage >1 h was an independent risk factor for episiotomy, blood transfusion, forceps delivery, postpartum hemorrhage and admission to NICU [adjusted OR (95% CI): 8.796 (5.717-13.534), 7.469 (2.874-19.411), 6.135 (3.217-11.699), 2.697 (1.624-4.477) and 1.814 (1.063-3.097), respectively], while the duration of second stage >2 h was the independent risk factor for episiotomy, third- or fourth-degree perineum laceration, blood transfusion, grade Ⅱ postpartum hemorrhage, forceps delivery and postpartum hemorrhage [adjusted OR (95% CI): 38.868 (14.948-101.063), 28.046 (2.780-282.490), 20.076 (5.384-74.866), 16.327 (3.406-78.274), 14.337 (5.351-38.411) and 9.036 (3.880-21.011), respectively]. Conclusions:The duration of the second stage of labor without epidural anesthesia is between that reported by Friedman and by Zhang. A prolonged second stage of labor may increase the risk of adverse pregnancy outcomes.
7.Effect of the comprehensive intervention measures on Yunnan unexplained sudden death in Dali Prefecture
Xue TANG ; Yanmei XI ; Lin MA ; Mengyao SUN ; Yongpeng YANG ; Yi DONG ; Mingfang QIN ; Yuebing WANG
Chinese Journal of Endemiology 2023;42(1):41-46
Objective:To evaluate the effect of comprehensive intervention measures on Yunnan unexplained sudden death (YUSD) in Dali Prefecture, Yunnan Province, and to provide scientific basis for improving the prevention and control measures.Methods:Since 2010, Yunnan Province had implemented comprehensive intervention measures in ward areas according to the etiological pattern of YUSD. In July 2019, 47 families with YUSD were selected as case families and 23 families without YUSD were selected as control families in 31 natural villages of Heqing, Xiangyun, Yunlong, Eryuan, Jianchuan, Binchuan and Nanjian counties of Dali Prefecture. A unified questionnaire was used to investigate the basic information, economic status, dietary structure, and health literacy of the families during the two periods of "the first sudden death case" and "the present".Results:The annual household income of the case families at present (median, 20 492.6 yuan) was significantly higher than that of the first sudden death case (3 883.4 yuan), and the difference was statistically significant ( Z = - 5.27, P < 0.001). At present, rice (76.6%, 36/47) was the main diet of the case families; at the time of the first sudden death case, 23.4% (11/47) of the case families could not eat enough, and there was no such situation in the case families at present. Compared with the time of the first sudden death case, the dietary habits of the case families at present were as follows: the proportion of eating Trogia venenata decreased from 19.0% (39/205) to 0 (0/190), the proportion of eating wild fruit decreased from 17.1% (35/205) to 9.5% (18/190), and the proportion of drinking raw water decreased from 55.1% (113/205) to 42.1% (80/190), and the differences were statistically significant (χ 2 = 22.37, 4.90, 6.86, P < 0.05). Lifestyle and health awareness: the proportion of those who washed their hands before meals and after using the toilet increased from 9.8% (20/205) to 41.6% (79/190), those who did not overwork increased from 16.6% (34/205) to 34.2% (65/190), and those who took good protection when spraying pesticides increased from 7.3% (15/205) to 21.6% (41/190), and the differences were statistically significant (χ 2 = 53.17, 33.94, 16.48, P < 0.001). Toilet habits: the proportion of using outdoor toilet decreased from 75.6% (155/205) to 9.5% (18/190), the difference was statistically significant (χ 2 = 175.21, P < 0.001). When the first sudden death case occurred, the proportions of eating Trogia venenata and using outdoor toilet in the case families were higher than those in the control families (χ 2 = 22.37, 23.70, P < 0.001), the proportions of those who washed their hands before meals and after using the toilet and those who did not overwork in the case families were lower than those in the control families (χ 2 = 7.38, 4.93, P < 0.05). Conclusions:The economic conditions, production and living conditions of YUSD areas in Dali Prefecture have been significantly improved, and the health literacy and health prevention awareness of the population have been greatly improved. Economic conditions and living standard, dietary structure and health literacy may be related factors of YUSD.
8.Effect of pomegranate peel polyphenols on mTOR/HIF-1α/IL-17 signaling pathway in a rat auriclular model of acne
Shuhui WU ; Mingfang ZHU ; Lu WEI ; Xi ZHANG ; Qiuyan QIN ; Chang WANG
Chinese Journal of Dermatology 2022;55(6):511-516
Objective:To explore the anti-inflammatory effect of pomegranate peel polyphenols on a rat auriclular model of acne and its mechanism of action.Methods:Totally, 36 specific-pathogen-free SD rats were randomly divided into 6 groups: blank group, model group, low-, medium- and high-dose pomegranate peel polyphenol groups and positive control group. In all groups except the blank group, 0.5 ml of 100% oleic acid was applied to the openings of bilateral auricular ducts once a day for 3 consecutive weeks, followed by subcutaneous injections of 50 μl of Propionibacterium acnes suspension at the oleic acid-applied sites once a day for 3 consecutive days, so as to establish a rat auriclular model of acne. After the model was confirmed to be successfully established by naked eyes, the low-, medium-, high-dose pomegranate peel polyphenol groups were topically treated with 0.5 mg of 1.4%, 2.8%, 5.6% (mass fraction) pomegranate peel polyphenol ointment respectively, the positive control group was topically treated with 0.5 mg of clindamycin hydrochloride gel, and the blank group and model group were topically treated with the same amount of distilled water. All the topical treatments were performed twice a day for 2 consecutive weeks. Twenty-four hours after the last topical treatment, abdominal aortic blood samples were collected, and enzyme-linked immunosorbent assay (ELISA) was conducted to detect the serum level of interleukin 17 (IL-17) in rats; rat auricular tissues were resected, hematoxylin-eosin (HE) staining was performed to observe histopathological changes of the skin tissues in each group, and immunohistochemical study to determine the expression of mammalian target of rapamycin (mTOR) , hypoxia-inducible factor-1α (HIF-1α) , and retinoic acid-related orphan receptor-γt (RORγt) in local tissues. Data meeting the assumptions of homogeneity of variances were analyzed by using one-way analysis of variance, and those that did not meet the assumptions of homogeneity of variances were analyzed by using Kruskal-Wallis H test; multiple comparisons were performed by using least significant difference- t test. Results:Compared with the model group, the pomegranate peel polyphenol groups and positive control group showed marked improvement in cysts, desquamation, crusts and epidermal keratinization, and reduced infiltration with inflammatory factors in the dermis at the modeling site. The serum level of IL-17 was significantly lower in the low-, medium- and high-dose pomegranate peel polyphenol groups (61.03 ± 5.99 ng/L, 55.35 ± 2.24 ng/L, 54.35 ± 4.29 ng/L, respectively) , positive control group (48.11 ± 4.07 ng/L) and blank group (42.10 ± 5.62 ng/L) than in the model group (70.24 ± 3.30 ng/L; t = 3.12, 5.34, 5.70, 8.29, 10.54, respectively, all P<0.05) . Immunohistochemical study revealed that the HIF-1α expression level was significantly lower in the low-, medium- and high-dose pomegranate peel polyphenol groups (0.29 ± 0.05, 0.29 ± 0.03, 0.33 ± 0.02, respectively) and positive control group (0.30 ± 0.01) than in the model group (0.41 ± 0.04; t = 4.89, 5.50, 3.62, 5.21, respectively, all P<0.05) ; the RORγt expression level was significantly lower in the low- and high-dose pomegranate peel polyphenol groups (0.28 ± 0.02, 0.31 ± 0.04, respectively) than in the model group (0.35 ± 0.02, t = 3.68, 2.18, respectively, both P<0.05) ; there was no significant difference in the mTOR expression level among these groups ( P = 0.119) . Conclusion:Pomegranate peel polyphenols could improve inflammatory reactions in the rat auriclular model of acne, which may be related to the down-regulation of HIF-1α/RORγt signaling pathway.
9.Preliminary treatment experience of double-balloon enteroscopy in children with intussusception caused by Peutz-Jeghers syndrome
Zhenni ZHU ; Mingfang WANG ; Fengge WANG ; Qin LIU ; Meng SHU ; Daiqin WU ; Chijun HU
Chinese Journal of Digestive Endoscopy 2022;39(4):322-325
Peutz-Jeghers syndrome (PJS) presents in early childhood, and children have a higher risk of intussusception due to a smaller abdominal space than adults. Double-balloon enteroscopy (DBE) has been proven to be a safe and effective method for the diagnosis and treatment of small bowel lesions, but the efficacy and safety of its prophylactic polypectomy in children with PJS need to be determined. Data of 6 children (median age 10.6 years) diagnosed as having PJS from 2018 to 2020 were reviewed. DBE was performed 14 times, and 3 children were successfully relieved of intussusception after DBE treatment. The sizes of the resected intussusception polyps were 50 mm×60 mm, 40 mm×35 mm, and 50 mm×40 mm. Symptoms associated with polyps (abdominal pain, intussusception and obstruction) relieved after DBE in all children. No direct complications such as bleeding or perforation were found during the operation, and no recurrence of intussusception was found during follow-up. It can be seen that DBE polypectomy is safe and effective in the treatment of intussusception caused by PJS.
10.Analysis of common pathogenic gene mutations of arrhythmogenic right ventricular cardiomyopathy in Yunnan unexplained sudden death cases
Xue CHENG ; Lin MA ; Sha MA ; Yanmei XI ; Xue TANG ; Mengyao SUN ; Yongpeng YANG ; Mingfang QIN ; Puping LEI ; Yuebing WANG
Chinese Journal of Endemiology 2022;41(11):866-870
Objective:To analyze common pathogenic gene mutations of arrhythmogenic right ventricular cardiomyopathy (ARVC) in Yunnan unexplained sudden death (hereinafter referred to as Yunnan sudden death) cases, and explore the etiological relationship between Yunnan sudden death and ARVC.Methods:Four typical Yunnan sudden death affected counties (cities) were selected as investigation sites. Cryopreserved autopsy cardiac cavity blood samples were collected from Yunnan sudden death cases ( n = 3), and peripheral venous blood samples were harvested from their relatives (first, second, third and immediate degree of kinship, n = 67) and control population ( n = 49). The DNA of blood samples was extracted for amplification and sequencing of 97 exons of 5 common ARVC desmosomal protein [desmoplakin (DSP), desmocollin-2 (DSC2), desmoglein-2 (DSG2), plakophilin-2 (PKP2) and junction plakoglobin (JUP)] genes, and genetic lineage of Yunnan sudden death cases was investigated. Results:A total of 17 gene mutation sites were discovered in Yunnan sudden death cases and their relatives, with 6, 5, 4, 1 and 1 in the DSP, DSC2, DSG2, PKP2 and JUP genes, which were not found in the control population. Among them, 9 were newly discovered mutation sites and 8 were reported mutation sites. The DSP gene exon 24 c.8472 G>C, a pure contractual sense mutation, was common in the relatives of 4 cases in the same family surveyed; and one immediate relative carried a deletion mutation at c.2368 - 2370 of exon 15 of DSC2 gene.Conclusion:Yunnan sudden death cases and their relatives carry mutations in the ARVC desmosomal protein DSP, DSC2, DSG2, PKP2, and JUP genes, and the onset of some Yunnan sudden death may be associated with mutations in the ARVC desmosomal protein genes.


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