1.Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Hui XI ; Qin LIU ; Dong Hua XIE ; Xu ZHOU ; Wang Lan TANG ; De Guo TANG ; Chun Yan ZENG ; Qiong WANG ; Xing Hui NIE ; Jin Ping PENG ; Xiao Ya GAO ; Hong Liang WU ; Hao Qing ZHANG ; Li QIU ; Zong Hui FENG ; Shu Yuan WANG ; Shu Xiang ZHOU ; Jun HE ; Shi Hao ZHOU ; Fa Qun ZHOU ; Jun Qing ZHENG ; Shun Yao WANG ; Shi Ping CHEN ; Zhi Fen ZHENG ; Xiao Yuan MA ; Jun Qun FANG ; Chang Biao LIANG ; Hua WANG
Biomedical and Environmental Sciences 2023;36(2):127-134
OBJECTIVE:
This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.
METHODS:
We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.
RESULTS:
The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.
CONCLUSION
Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans
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beta-Thalassemia/genetics*
;
alpha-Thalassemia/genetics*
;
Hemoglobinopathies/genetics*
;
China/epidemiology*
;
High-Throughput Nucleotide Sequencing
2.Incidence of extrauterine growth retardation and its risk factors in very preterm infants during hospitalization: a multicenter prospective study.
Wei SHEN ; Zhi ZHENG ; Xin-Zhu LIN ; Fan WU ; Qian-Xin TIAN ; Qi-Liang CUI ; Yuan YUAN ; Ling REN ; Jian MAO ; Bi-Zhen SHI ; Yu-Mei WANG ; Ling LIU ; Jing-Hui ZHANG ; Yan-Mei CHANG ; Xiao-Mei TONG ; Yan ZHU ; Rong ZHANG ; Xiu-Zhen YE ; Jing-Jing ZOU ; Huai-Yu LI ; Bao-Yin ZHAO ; Yin-Ping QIU ; Shu-Hua LIU ; Li MA ; Ying XU ; Rui CHENG ; Wen-Li ZHOU ; Hui WU ; Zhi-Yong LIU ; Dong-Mei CHEN ; Jin-Zhi GAO ; Jing LIU ; Ling CHEN ; Cong LI ; Chun-Yan YANG ; Ping XU ; Ya-Yu ZHANG ; Si-Le HU ; Hua MEI ; Zu-Ming YANG ; Zong-Tai FENG ; San-Nan WANG ; Er-Yan MENG ; Li-Hong SHANG ; Fa-Lin XU ; Shao-Ping OU ; Rong JU
Chinese Journal of Contemporary Pediatrics 2022;24(2):132-140
OBJECTIVES:
To investigate the incidence of extrauterine growth retardation (EUGR) and its risk factors in very preterm infants (VPIs) during hospitalization in China.
METHODS:
A prospective multicenter study was performed on the medical data of 2 514 VPIs who were hospitalized in the department of neonatology in 28 hospitals from 7 areas of China between September 2019 and December 2020. According to the presence or absence of EUGR based on the evaluation of body weight at the corrected gestational age of 36 weeks or at discharge, the VPIs were classified to two groups: EUGR group (n=1 189) and non-EUGR (n=1 325). The clinical features were compared between the two groups, and the incidence of EUGR and risk factors for EUGR were examined.
RESULTS:
The incidence of EUGR was 47.30% (1 189/2 514) evaluated by weight. The multivariate logistic regression analysis showed that higher weight growth velocity after regaining birth weight and higher cumulative calorie intake during the first week of hospitalization were protective factors against EUGR (P<0.05), while small-for-gestational-age birth, prolonged time to the initiation of total enteral feeding, prolonged cumulative fasting time, lower breast milk intake before starting human milk fortifiers, prolonged time to the initiation of full fortified feeding, and moderate-to-severe bronchopulmonary dysplasia were risk factors for EUGR (P<0.05).
CONCLUSIONS
It is crucial to reduce the incidence of EUGR by achieving total enteral feeding as early as possible, strengthening breastfeeding, increasing calorie intake in the first week after birth, improving the velocity of weight gain, and preventing moderate-severe bronchopulmonary dysplasia in VPIs.
Female
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Fetal Growth Retardation
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Gestational Age
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Hospitalization
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Humans
;
Incidence
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Infant
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Infant, Newborn
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Infant, Premature
;
Infant, Very Low Birth Weight
;
Prospective Studies
;
Risk Factors
3.A retrospective study to compare the treatment outcomes with and without surgical navigation for fracture of the orbital wall.
Chun-Lin ZONG ; Yu-Lin SHI ; Jun-Qi JIA ; Ming-Chao DING ; Shi-Ping CHANG ; Jin-Biao LU ; Yuan-Li CHEN ; Lei TIAN
Chinese Journal of Traumatology 2021;24(1):11-17
PURPOSE:
To evaluate the outcomes with and without aid of a computer-assisted surgical navigation system (CASNS) for treatment of unilateral orbital wall fracture (OWF).
METHODS:
Patients who came to our hospital for repairing unilateral traumatic OWF from 2014 to 2017 were included in this study. The patients were divided into the navigation group who accepted orbital wall reconstruction aided by CASNS and the conventional group. We evaluated the surgical precision in the navigation group by analyzing the difference between actual postoperative computed tomography data and preoperative virtual surgical plan through color order ratios. We also compared the duration of surgery, enophthalmos correction, restoration of orbital volumes, and improvement of clinical symptoms in both groups systemically. Quantitative data were presented as mean ± SD. Significance was determined by the two-sample t-test using SPSS Version 19.0 A p < 0.05 was considered statistically significant.
RESULTS:
Seventy patients with unilateral OWF were included in the study cohort. The mean difference between preoperative virtual planning and actual reconstruction outcome was (0.869 ± 0.472) mm, which means the reconstruction result could match the navigation planning accurately. The mean duration of surgery in the navigation group was shorter than it is in the control group, but not significantly. Discrepancies between the reconstructed and unaffected orbital-cavity volume and eyeball projection in the navigation group were significantly less than that in the conventional group. One patient had remnant diplopia and two patients had enophthalmos after surgery in the navigation group; two patients had postoperative diplopia and four patients had postoperative enophthalmos in the conventional group.
CONCLUSION
Compare with the conventional treatment for OWF, the use of CASNS can provide a significantly better surgical precision, greater improvements in orbital-cavity volume and eyeball projection, and better clinical results, without increasing the duration of surgery.
4.Effects of different transdermal penetration enhancers applied to herbal cake-partitioned moxibustion on liver lipids, HSL and HMG-CoA reductase in hyperlipidemia rabbits
Zong-Li LIAO ; Chong-Zheng ZHU ; Jing TAN ; Feng-Jiao LUO ; Lu SUN ; Wen-Tao HUANG ; Yan-Ping CHEN ; Ren-Da YANG ; Xiao-Rong CHANG
Journal of Acupuncture and Tuina Science 2020;18(3):157-164
Objective: To observe the effects of laurocapram and borneol as transdermal penetration enhancers applied to herbal cake-partitioned moxibustion on liver lipids, hormone-sensitive lipase (HSL) and hydroxymethylglutaryl CoA (HMG-CoA) reductase in hyperlipidemia rabbits.Methods: Forty New-Zealand rabbits were randomly divided into 5 groups using the random number table method, with 8 rats in each group. Rabbits in the blank group were fed routinely with a normal diet; rabbits in the other groups were fed with high-fat diet for 12 weeks to establish the hyperlipidemia model. Rabbits in the blank and the model groups were not given any intervention. After the model was prepared successfully, rabbits in the non-transdermal penetration enhancer group received herbal cake-partitioned moxibustion without transdermal penetration enhancers; rabbits in the laurocapram group and the borneol group received herbal cake-partitioned moxibustion with laurocapram or borneol respectively. After 4 weeks of treatment, the serum was isolated and enzyme-linked immunosorbent assay (ELISA) was applied for the detection of HSL and HMG-CoA reductase. The liver tissues were isolated, and total cholesterol (TC) and triglycerides (TG) were measured by enzymatic methods. One-step method was applied for high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) detection, and transmission turbidimetry was for apolipoprotein A1 (Apo-A1) and apolipoprotein B (Apo-B) detection. Results: The serum concentrations of the drugs in the laurocapram and the borneol groups were significantly higher than those in the non-transdermal penetration enhancer group (both P<0.05); all drug penetrations in the borneol group were significantly higher than those in the laurocapram group (both P<0.05), except for tanshinone ⅡA. Compared with the non-transdermal penetration enhancer group, the HSL was significantly increased while the HMG-CoA reductase was significantly decreased in the laurocapram and the borneol groups (both P<0.05); between groups, the HSL in the borneol group was significantly higher than that in the laurocapram group (P<0.05). Compared with the blank group, the levels of LDL-C, TG, TC and Apo-B in rabbit liver were significantly increased in the model group (P<0.05); compared with the model group, the levels of LDL-C, TG, TC and Apo-B in the non-transdermal penetration enhancer, the laurocapram, and the borneol groups were significantly decreased (all P<0.05); between groups, the TG and TC in the laurocapram group and the LDL-C, TG, TC and Apo-B in the borneol group were significantly lower than those in the non-transdermal penetration enhancer group (all P<0.05), and the TG, LDL-C and Apo-B in the borneol group were significantly lower than those in the laurocapram group (all P<0.05). Compared with the blank group, the HDL-C and Apo-A1 were significantly decreased in the model group (both P<0.05), while compared with the model group, the HDL-C and Apo-A1 were significantly increased in the non-transdermal penetration enhancer, the laurocapram, and the borneol groups (all P<0.05). Between groups, the Apo-A1 in the laurocapram group, the HDL-C and Apo-A1 in the borneol group were significantly higher than those in the non-transdermal penetration enhancer group (all P<0.05).Conclusion: The application of laurocapram and borneol, as transdermal penetration enhancers, in herbal cake-partitioned moxibustion can promote the penetration of the drugs in the herbal cake, increase the levels of HDL-C and Apo-A1, improve the metabolism of HSL and HMG-CoA reductase, and also simultaneously reduce the levels of TC, TG, LDL-C and Apo-B in the liver. The transdermal penetration enhancement effect of borneol is slightly better than or equivalent to that of laurocapram.
5.Blockade of HCN2 Channels Provides Neuroprotection Against Ischemic Injury via Accelerating Autophagic Degradation in Hippocampal Neurons.
Cheng CHEN ; Li LIU ; Ya-Qiao SHU ; Ping JING ; Yun LU ; Xiao-Xue ZHANG ; Xian-Gang ZONG ; Lian-Jun GUO ; Chang-Jun LI
Neuroscience Bulletin 2020;36(8):875-894
In the central nervous system, hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are essential to maintain normal neuronal function. Recent studies have shown that HCN channels may be involved in the pathological process of ischemic brain injury, but the mechanisms remain unclear. Autophagy is activated in cerebral ischemia, but its role in cell death/survival remains controversial. In this study, our results showed that the HCN channel blocker ZD7288 remarkably decreased the percentage of apoptotic neurons and corrected the excessive autophagy induced by oxygen-glucose deprivation followed by reperfusion (OGD/R) in hippocampal HT22 neurons. Furthermore, in the OGD/R group, p-mTOR, p-ULK1 (Ser), and p62 were significantly decreased, while p-ULK1 (Ser), atg5, and beclin1 were remarkably increased. ZD7288 did not change the expression of p-ULK1 (Ser), ULK1 (Ser), p62, Beclin1, and atg5, which are involved in regulating autophagosome formation. Besides, we found that OGD/R induced a significant increase in Cathepsin D expression, but not LAMP-1. Treatment with ZD7288 at 10 μmol/L in the OGD/R group did not change the expression of cathepsin D and LAMP-1. However, chloroquine (CQ), which decreases autophagosome-lysosome fusion, eliminated the correction of excessive autophagy and neuroprotection by ZD7288. Besides, shRNA knockdown of HCN2 channels significantly reduced the accumulation of LC3-II and increased neuron survival in the OGD/R and transient global cerebral ischemia (TGCI) models, and CQ also eliminated the effects of HCN2-shRNA. Furthermore, we found that the percentage of LC3-positive puncta that co-localized with LAMP-1-positive lysosomes decreased in Con-shRNA-transfected HT22 neurons exposed to OGD/R or CQ. In HCN2-shRNA-transfected HT22 neurons, the percentage of LC3-positive puncta that co-localized with LAMP-1-positive lysosomes increased under OGD/R; however, the percentage was significantly decreased by the addition of CQ to HCN2-shRNA-transfected HT22 neurons. The present results demonstrated that blockade of HCN2 channels provides neuroprotection against OGD/R and TGCI by accelerating autophagic degradation attributable to the promotion of autophagosome and lysosome fusion.
6.Analysis on epidemic of human brucellosis in Jiangxi Province from 2011 to 2017
Yu-ping HUANG ; Jun ZONG ; Chang-hui XIONG ; Huan-hong PAN ; Guo-liang HU ; Xiao-qing LIU
Chinese Journal of Disease Control & Prevention 2019;23(4):407-411
Objective To investigate the epidemic characteristics of human brucellosis in Jiangxi province from 2011 to 2017,thereby providing reference for future prevention and control work. Methods We analyzed the case information reported in the National Notifiable Infectious Diseases Reporting Information System of Jiangxi Province during 2011-2017 by combining with the monitoring data. Results A total of 239 cases were recorded over these six years, with an average incidence rate of 0.08/100 000. Most cases and agglomerations were concentrated in the Nanchang area (48 cases/4 cases), with the case distribution ranging from 1 in 2011 to all in 2016, and the number of counties(districts) involved had increased from 1 in 2011 to 68 in 2017, which increased rapidly year by year ( 2= 94.31, P<0.001). The gender ratio was 3.12 ∶〗1(181 ∶〗58). Most cases were concentrated in the 40-65 age group, while farmers and herdsmen were high-risk population, accounting for 59.83 % (143/239). The incidence of brucellosis peaked from May to September (May peak and September peak). In 2012-2017, 7 160 blood samples were collected from risk population, with 95 being positive for Brucella (1.33 %). From 2013 to 2017, 62 strains of the Brucella, 4 were Brucella melitensis type1, 54 were Brucella melitensis type3 and 4 were Brucella suis were isolated from 193 cases. Conclusions The human brucellosis was aggravated in Jiangxi province, with the expansion of regional scope. Therefore, more efforts should be focused on regulation to prevent and control brucellosis better.
7.Abnormal Activity of Sympathetic Nervous System in Girls with Adolescent Idiopathic Scoliosis: A Cross-sectional Study.
Zong Shan HU ; Zhi Hui ZHAO ; Chang-Chun TSENG ; Jie LI ; Gene Chi-Wai MAN ; Tsz-Ping LAM ; Yong QIU ; Chun-Yiu Jack CHENG ; Ze Zhang ZHU ; Zhen LIU
Biomedical and Environmental Sciences 2018;31(9):700-704
8.Significance of selective neck dissection in patients with cN0 thyroid carcinoma.
Zheng-jiang LI ; Chang-ming AN ; Dan-gui YAN ; Xi-wei ZHANG ; Zong-min ZHANG ; Zhen-gang XU ; Ping-zhang TANG
Chinese Journal of Oncology 2013;35(10):783-786
OBJECTIVETo investigate the significance of selective neck dissection in patients with cN0 thyroid carcinoma who have a high-risk of lateral neck lymph node metastasis.
METHODSSixty three patients with cN0 thyroid carcinoma who have a high-risk of lateral neck lymph node metastasis were prospectively studied at the Department of Head and Neck Surgery, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College between August 2006 and June 2011. The patients with cN0 thyroid carcinoma easy to occur neck lymph node metastasis include: The maximum diameter of primary tumor is ≥ 2 cm; The primary tumor invaded the thyroid capsule; Lymph node metastasis in level VI is found; Lymph node enlargement in level III or/and IV were detected preoperatively by ultrasonography, but not considered as metastasis. The surgical procedure is that the selective neck dissection in level III and IV is performed depending on the collar incision of thyroid surgery. The lymph node chosen from the specimen has a frozen section. If lymph node metastasis is found in the frozen section, a functional neck dissection should be performed through prolonging the collar incision.
RESULTSAll cases were pathologically confirmed as thyroid papillary carcinoma. The occult metastasis rate of lateral neck lymph nodes was 39.7%. According to the univariate analysis, the patients with thyroid capsule invasion and lymph node metastasis in level VI were more likely to have lateral neck lymph node metastasis, and the occult metastasis rate was 46.9% and 54.3%, respectively (P = 0.028, P = 0.008), and there were statistically no significant difference in the primary tumor size and the preoperative neck lymph node status by ultrasonography with occult metastasis of lateral neck lymph nodes (P = 0.803 and P = 0.072). According to the multivariate analysis, there was a significant correlation only between the lymph node metastasis in level VI and occult metastasis of lateral neck lymph nodes (P = 0.017), but there was no significant correlation with the thyroid capsule invasion, primary tumor size and neck lymph node status by preoperative ultrasonography in prediction of occult metastasis of lateral neck lymph nodes (all P > 0.05).
CONCLUSIONSSelective neck dissection is feasible for the patients with cN0 thyroid carcinoma who have a high-risk lateral neck lymph node metastasis and the lateral occult metastatic lymph node can be promptly found and removed. We suggest that the selective neck dissection for level III and IV should be routinely performed in cN0 thyroid carcinoma patients with thyroid capsule invasion and lymph node metastasis in level VI.
Adolescent ; Adult ; Aged ; Carcinoma ; diagnostic imaging ; pathology ; surgery ; Carcinoma, Papillary ; Female ; Follow-Up Studies ; Humans ; Lymph Nodes ; diagnostic imaging ; pathology ; surgery ; Lymphatic Metastasis ; Male ; Middle Aged ; Neck ; Neck Dissection ; Neoplasm Invasiveness ; Prospective Studies ; Thyroid Neoplasms ; diagnostic imaging ; pathology ; surgery ; Tumor Burden ; Ultrasonography ; Young Adult
9.Evaluation on the effect of comprehensive control strategy of schistosomiasis with emphasis on infection source control in Anhui province.
Zhi-Guo CAO ; Tian-Ping WANG ; Jia-Chang HE ; Shi-Qing ZHANG ; Geng-Xin CHEN ; Gong-Hua ZHANG ; Hao WANG ; Zong-Gui HE
Chinese Journal of Preventive Medicine 2012;46(2):114-118
OBJECTIVETo evaluate the effect of comprehensive control strategy of schistosomiasis with emphasis on infection source control in Anhui province.
METHODSForty endemic villages in Guichi district, Chizhou city, Anhui province were selected as national pilot villages in the years from 2006 to 2008, and another 10 provincial pilot villages were respectively selected from 10 highly endemic villages in 7 cities in 2007. The comprehensive infection source control measures, including "replace cattle with machines", "raise livestock in pens", "improve the sanitary toilets", "supply safe water " and so on were carried out among the above pilot villages. At the end of 2008, 13 national pilot villages and 6 provincial pilot villages were selected to investigate the popularity of schistosomiasis, and the effect of the comprehensive control strategy in those villages were compared.
RESULTSAfter implementing the comprehensive control strategy, the infectious rate of schistosomiasis in national pilot villages decreased from 4.57% (487/10 659) to 1.76% (147/8370), with the reduction rate at 61.49%, whose difference showed statistical significance (χ(2) = 115.16, P < 0.01); and the density of infected snails decreased from 0.0067/0.1 m(2) to 0.0008/0.1 m(2), the infectious rate of snails decreased from 0.28% to 0.04%, whose reduction rates were 88.06% and 85.71% respectively. While as to the provincial pilot villages, the infectious rate of schistosomiasis decreased from 1.27% (54/4254) to 0.21% (14/6592), with the reduction rate at 83.46%, whose difference showed statistical significance (χ(2) = 94.57, P < 0.01); and the density of infected snails decreased from 0.0025/0.1 m(2) to 0.0003/0.1 m(2), the infection rate of snails decreased from 0.13% to 0.05%, whose reduction rates were 88.00% and 61.54% respectively.
CONCLUSIONThe comprehensive control strategy with emphasis on infection source control implemented in marshland and lake regions can effectively control the transmission of schistosomiasis.
Animals ; China ; epidemiology ; Disease Reservoirs ; parasitology ; Humans ; Infection Control ; methods ; Livestock ; Pilot Projects ; Rural Health ; Schistosomiasis ; epidemiology ; parasitology ; prevention & control ; Snails ; parasitology
10.Use of covered Cheatham-Platinum stent as the primary modality in the treatment for native coarctation of the aorta.
Zong-ping CHANG ; Shi-liang JIANG ; Zhong-ying XU ; Ge-jun ZHANG ; Lian-jun HUANG ; Shi-hua ZHAO ; Jian LING ; Hong ZHENG ; Jing-lin JIN ; Wen-hui WU ; Hai-bo HU ; Shi-guo LI ; Ji-hong YU ; Chao-wu YAN
Chinese Medical Journal 2012;125(6):1005-1009
BACKGROUNDBare stent implantation in the treatment for native and recurrent coarctation of the aorta (CoA) has become established as an alternative to surgery and balloon angioplasty. However, this modality still encounters significant complications during the procedure and/or follow-up. The covered Cheatham-Platinum (CP) stent commonly used to be chosen as a rescue treatment in these patients. The purpose of this study was to evaluate the use of covered CP stent as the primary modality in the treatment for native CoA.
METHODSTwenty-five covered CP stents and 2 bare CP stents were implanted in 25 patients with native CoA. All patients after the intervention were invited for follow-up examinations.
RESULTSThe peak systolic gradient across the lesion decreased significantly from a median value of 67.5 mmHg (quartile range, 19.3 mmHg) to 2 mmHg (quartile range, 4.0 mmHg) (P < 0.0001). Stenotic segment diameter increased from a median value of 5.0 mm (quartile range, 1.5 mm) to 17.9 mm (quartile range, 2.5 mm) (P < 0.0001). The median ratio of diameter of the coarctation postprocedure to preprocedure was 4.2 (quartile range, 1.6). All of the CP stents were placed in the suitable position without any acute complications. During a follow-up period of up to 72 months, no complications were encountered. Most of the patients (21/25) were normotensive, apart from four patients requiring antihypertensive medication during the follow-up.
CONCLUSIONThe implantation of covered CP stent as the primary modality is safe and effective in the treatment for native CoA in adolescents and adults.
Adolescent ; Adult ; Angioplasty, Balloon ; Aortic Coarctation ; pathology ; physiopathology ; therapy ; Female ; Humans ; Male ; Middle Aged ; Platinum ; Stents ; adverse effects ; Systole

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