1.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
2.Correlation study of transcranial sonography combined with serum biomarkers and cognitive status in patients with Parkinson′s disease
Hai WANG ; Yingchun ZHANG ; Changwei DING ; Caishan WANG ; Yujing SHENG ; Xiaofang CHEN ; Ying ZHANG ; Min YANG ; Pan MAO ; Yong YANG ; Ping FENG ; Chengjie MAO ; Jing CHEN ; Chunfeng LIU
Chinese Journal of Ultrasonography 2024;33(6):512-518
Objective:To explore the correlation between transcranial sonography (TCS) combined with serum homocysteine (Hcy), blood glucose, blood lipids, the cognitive status of Parkinson′s disease (PD) patients, and to analyze the clinical application value of these parameters in assessing the cognitive status of PD patients.Methods:A total of 152 PD patients admitted to the Second Affiliated Hospital of Soochow University from January 2020 to June 2023 were retrospectively collected as the PD group, and 101 healthy examinees matched for age and gender during the same period were selected as control group. Clinical data [age, gender, duration of illness, Montreal Cognitive Assessment (MoCA) score, Mini-Mental State Examination (MMSE) score, Unified Parkinson′s Disease Rating Scale Part Ⅲ (UPDRS-Ⅲ) score, Hoehn-Yahr (H-Y) stage, etc.], serum tests (Hcy, blood glucose, total cholesterol, triglycerides, low-density lipoprotein, high-density lipoprotein concentration), and TCS examination results (third ventricular width, midbrain area, peak systolic velocity of bilateral middle cerebral arteries, bilateral middle cerebral artery resistance index, bilateral substantia nigra hyperechoic area) were collected. The two groups were divided into pure PD group and PD group with elevated Hcy, pure control group and control group with elevated Hcy, based on an Hcy concentration threshold of ≥15 μmol/L. The differences in the above parameters among the four groups were compared. The correlation between Hcy and cognitive status (MoCA score, MMSE score) of PD patients and the above parameters were analyzed.Results:The MoCA score and MMSE score of the PD group with elevated Hcy were lower than those of the pure PD group, and the UPDRS-Ⅲ score and H-Y stage were higher than those of the pure PD group (all P<0.001). The order of Hcy concentration from high to low was PD group with elevated Hcy, pure Hcy elevation group, pure PD group, and pure control group. The differences in serum data and TCS data among the four groups were statistically significant (all P<0.001). Spearman correlation analysis showed: ①In the PD group, the concentration of Hcy was positively correlated with glucose concentration, H-Y stage, low-density lipoprotein concentration, right middle cerebral artery resistance index, UPDRS-Ⅲ score, total cholesterol concentration, triglyceride concentration, left middle cerebral artery resistance index, third ventricular width, and age ( rs=0.422, 0.350, 0.348, 0.334, 0.325, 0.300, 0.293, 0.283, 0.221, 0.164, all P<0.05); Hcy concentration was negatively correlated with midbrain area, MMSE score, MoCA score, peak systolic velocity of right middle cerebral artery, peak systolic velocity of left middle cerebral artery, and high-density lipoprotein concentration ( rs=-0.328, -0.282, -0.245, -0.229, -0.224, -0.192, all P<0.05). ②Clinical data, serum data, and TCS data of PD patients were all correlated with MoCA score and MMSE score, with midbrain area showing the largest positive correlation ( rs=0.524, 0.516; both P<0.05) and H-Y stage showing the largest negative correlation( rs=-0.490, -0.468; both P<0.05). Conclusions:PD patients with elevated Hcy have lower cognitive scores than pure PD patients. The correlation between Hcy concentration and blood glucose concentration is the highest in PD patients, followed by H-Y stage. The cognitive scores of PD patients are most correlated with midbrain area and unrelated to substantia nigra hyperechoic area. Lowering serum Hcy concentration in PD patients may be one of the ways to delay cognitive impairment.
3.Factors affecting the self-reported life quality of patients with acromegaly
Shengmin YANG ; Huijuan ZHU ; Lian DUAN ; Hui PAN ; Xue BAI ; Rui JIAO ; Yuelun ZHANG ; Tongxin XIAO ; Qingjia ZENG ; Yi WANG ; Xinxin MAO ; Yong YAO ; Kan DENG
Chinese Journal of Endocrinology and Metabolism 2024;40(6):494-499
Objective:To explore influencing factors of the self-reported brief life quality satisfaction score(Brief-QoL) in patients with acromegaly and understand the persistent low Brief-QoL scores in cases achieving biochemical remission.Methods:This study included 836 acromegaly patients who were hospitalized at Peking Union Medical College Hospital between January 2012 and December 2020. We retrospectively examined how clinical characteristics, biochemical parameters, comorbidities, and symptoms influenced Brief-QoL. Among patients who achieved biochemical remission, differences in clinical symptoms and comorbidities were analyzed between the high and low quality of life groups.Results:Patients with well-controlled biochemical indicators at the last follow-up had generally high Brief-QoL. However, patients with symptoms such as headaches (47.8% in the low-score group vs 14.9% in the high-score group, P<0.001) and joint pain (69.6% in the low-score group vs 19.0% in the high-score group, P<0.001) had low Brief-QoL despite biochemical remission. Receiving combined treatment(52.4% in the low-score group vs 27.5% in the high-score group, P=0.030) and having comorbid diabetes or hyperlipidemia were significant factors leading to decreased quality of life. Conclusion:Brief-QoL is suitable for follow-up of outpatient patients. Early identification of factors affecting quality of life and timely intervention can facilitate the realization of standardized management.
4.Proteomic Study on the Effect of Wenshen Tongdu Formula (温肾通督方) on Spleen B Cells in Spinal Cord Injury Model Mice
Lei SHI ; Chengjie WU ; Sixian CHEN ; Yalan PAN ; Lining WANG ; Ruihua ZHAO ; Mao WU ; Yong MA ; Yang GUO
Journal of Traditional Chinese Medicine 2023;64(22):2329-2338
ObjectiveTo explore the effects and possible mechanism of Wenshen Tongdu Formula (温肾通督方, WTF) on spinal cord injury. MethodsThirty-six C57BL/6 female mice were randomly divided into sham operation group, model group and WTF group, with 12 mice in each group. The spinal cord injury model was established in the model group and the WTF group using the modified Allen's method, while in the sham operation group the spinal cord was only exposed. Since the 1st day after surgery, 50 g/(kg·d) of WTF solution was given to the WTF group by gavage, while 20 ml/(kg·d) of normal saline was given to the sham operation and model group by gavage, all for 14 days. Before surgery and on the 1st, 7th, and 14th days after surgery, the motor function of the mice was evaluated using the inclined plane test and hind limb motor function score (by BMS). On the 3rd day after surgery, the nerve electrophy-siology was detected through electromyography and motor evoked potential; the spleen length was measured, and B cells in the spleen were sorted by magnetic beads; the differential expression of proteins were detected through proteomics technology; and the protein expression of mitochondrial outer membrane transport porin 20 (Tom20) and downstream cleaved caspase-3 in spleen B cells were measured using Western blotting. On the 14th day after surgery, MRI was used to observe the recovery of the spinal cord. ResultsCompared to those in the sham operation group at the same time, the BMS scores and subscores and the inclined plane test angle in the model group were reduced on the 1st, 7th and 14th days after surgery; the peak value of electromyogram and motor evoked potential were reduced, and the spleen length was shortened, while the expression of Tom20 and cleaved caspase-3 increased in splenic B cells increased (P<0.05). Compared to those in the model group at the same time, the BMS subscores on the 14th day and the angle of the inclined plane test on the 7th and 14th days after surgery increased in the WTF group; the peak value of electromyography and motor evoked potential, as well as the length of spleen increased, and the expression of Tom20 and cleaved caspase-3 decreased (P<0.05). The proteomics results showed that there were 100 differential proteins in the WTF group versus the model group, of which 37 were up-regulated and 63 were down-regulated. GO enrichment analysis showed that differential proteins mainly played their roles in oxygen binding, exogenous apoptosis negative feedback, zinc ion response, and oxygen transport. KEGG enrichment analysis showed that differential proteins were mainly concentrated in metabolic pathways, Huntington's disease, oxidative phosphorylation and other pathways. Subcellular localization showed that differential proteins were associated with mitochondria. Magnetic resonance imaging on the 14th day after surgery showed that the spinal cord structure of the mice in the sham operation group was intact, and the segments were clear, with normal spinal cord signal; the low signal area in the spinal cord injury area increased in the model group, and the spinal cord became significantly thinner; the injured segment had obvious depression in the WTF group, but the structure was more complete than that in the model group. ConclusionWTF may promote spinal cord injury repair by regulating immune function, and its mechanism may be related to inhibiting pyroptosis of spleen B cells.
5.Transcranial sonography image characteristics of substantia nigra in different Parkinson′s disease subtypes and their correlation with iron metabolism
Chenchu YING ; Yingchun ZHANG ; Changwei DING ; Caishan WANG ; Yujing SHENG ; Xiaofang CHEN ; Ying ZHANG ; Min YANG ; Pan MAO ; Yong YANG ; Ping FENG ; Chengjie MAO ; Jing CHEN ; Chunfeng LIU
Chinese Journal of Ultrasonography 2023;32(4):332-338
Objective:To explore the pathological mechanism of SN hyperechogenicity by investigating the characteristics of substantia nigra (SN) hyperechogenicity on transcranial sonography (TCS) and serum iron metabolism parameters in the postural instability gait difficulty and tremor dominant subtypes of Parkinson′s disease (PD), and the correlation between them.Methods:A total of 155 PD patients recruited in Parkinson′s Disease Specialty in the Second Affiliated Hospital of Soochow University from January 2019 to December 2021 were divided into postural instability gait difficulty group( n=95) and tremor dominant group( n=60). Meanwhile, 49 healthy gender- and age-matched healthy individuals who sought for physical examination during the same period were included as the control group. All subjects underwent TCS and blood test, and the echo of SN between the postural instability gait difficulty group and tremor dominant group, serum iron metabolism parameters among the three groups were compared. The postural instability gait difficulty group and tremor dominant group were subdivided into with SN hyperechogenicity (SN+ )subgroup and without SN hyperechogenicity (SN-) subgroup respectively according to TCS results, and the differences in serum iron metabolism parameters between the subgroups were further compared. The association between SN hyperechogenicity and serum iron metabolism parameters of the postural instability gait difficulty group and tremor dominant group were further analyzed. Results:The total area of bilateral SN+ , the area of SN+ on the larger side, and the ratio of the total area of SN+ to the midbrain area (S/M) in postural instability gait difficulty group were larger than those in tremor dominant group (all P<0.001). The value of serum ceruloplasmin and transferrin in both postural instability gait difficulty group and tremor dominant group were lower than those in control group (all P<0.001), and compared with tremor dominant group and control group, the postural instability gait difficulty group had lower serum ferritin(all P<0.01). In both postural instability gait difficulty group and tremor dominant group, serum ceruloplasmin in SN+ subgroup was lower than that in SN-subgroup ( P=0.001, 0.032). Moreover, there was a negative correlation between serum transferrin and the area of SN hyperechogenicity in two subgroups(postural instability gait difficulty group: rs=-0.454, P<0.001; tremor dominant group: rs=-0.494, P<0.001). Conclusions:Compared with the tremor dominant patients, the postural instability gait difficulty patients have larger area of SN hyperechogenicity and lower serum ferritin level. The area of SN hyperechogenicity is significantly negatively correlated with serum transferrin level, indicating that the production of this imaging characteristics is related to iron metabolism.
6.Effect of postoperative trunk shift on long-term shoulder imbalance after single segment hemivertebra resection in children: risk factors and prognosis
Xiyu PAN ; Jun QIAO ; Zhen LIU ; Saihu MAO ; Xu SUN ; Zezhang ZHU ; Yong QIU
Chinese Journal of Orthopaedics 2022;42(11):696-705
Objective:To investigate the risk factors of long-term shoulder imbalance in patients presented postoperative shoulder imbalance who underwent single segment hemivertebra resection, and the role of postoperative trunk shift in shoulder imbalance.Methods:All of 30 patients who presented shoulder imbalance after hemivertebrae resection and short fusion from July 2006 to December 2018 were reviewed in this study, including 16 males and 14 females, aged 4.53±2.05 years (range, 2-8 years). Among them, 10 cases were thoracic hemivertebra, 12 thoracolumbar hemivertebra and 8 lumbar hemivertebra. According to the vertical height difference at the highest point of soft tissue shadows on both shoulders in the final follow-up upright posteroanterior radiograph, which was shoulder imbalance (SI), they were divided into two groups: Group B (balance, shoulder imbalance less than 10 mm) and Group IB (imbalance, shoulder imbalance more than 10 mm). Several radiographic parameters were measured preoperatively, 3 months after surgery and at the final follow-up, such as SI, distance between C 7 plumbline and center sacral vertical line (C 7PL-CSVL), Cobb angle of main curve, cobb angle of proximal curve (CAPC), Cobb angle of distal curve (CADC), upper instrumented vertebra offset (UO), lower instrumented vertebra offset (LO), upper instrumented vertebra slope (US), lower instrumented vertebra slope (LS), T1 tilt and sagittal vertical axis (SVA). Results:The mean follow-up period was 54.3±33.7 months (range, 24-132 months). A mean of 3.1 segments were fused. 7 cases (70%) of thoracic, 6 cases (50%) of thoracolumbar and 3 cases of lumbar hemivertebrae (37.5%) with shoulder imbalance at 3 months after surgery remained imbalanced at the last follow-up. Thirteen cases presented coronal imbalance postoperative (C 7PL-CSVL>2 cm), among 6 cases whose trunk shafted to the side of the higher shoulder postoperatively, 5 cases presented aggravated SI at final follow-up, and among 7 cases whose trunk shafted to the side of the lower shoulder postoperatively, 6 cases presented aggravated SI at final follow-up, while the difference had statistical significance ( P=0.029). The static analysis indicated that postoperative and long-term C 7PL-CSVL, long-term lowest instrumented vertebra and long-term T 1 tilt were risk factors of shoulder imbalance at final follow-up. Conclusion:A proportion of congenital scoliosis patients who presented shoulder imbalance after hemivertebra resection plus short fusion are less likely to achieve shoulder balance at the final follow-up. Long-term shoulder imbalance is often presented in the patients whose trunk shafted to the side of the higher shoulder postoperatively.
7.Analysis of HIV-1 genetic subtype and pretreatment drug resistance among men who have sex with men infected with HIV-1 from 19 cities of 6 provinces in China.
Ran ZHANG ; Ting Li DONG ; Wen Li LIANG ; Zhao Bing CAO ; Zhen XIE ; Kang Mai LIU ; Fei YU ; Geng Feng FU ; Yu Qi ZHANG ; Guo Yong WANG ; Qiao Qin MA ; Shao Bin WU ; Yan LI ; Wei DONG ; Zhen JIANG ; Jie XU ; Zun You WU ; Jun YAO ; Pin Liang PAN ; Mao Feng QIU
Chinese Journal of Epidemiology 2022;43(4):523-527
Objective: To investigate the distribution of HIV-1 genetic subtypes and pretreatment drug resistance (PDR) among men who have sex with men (MSM) from 19 cities of 6 provinces in China. Methods: From April to November 2019, 574 plasma samples of ART-naive HIV-1 infected MSM were collected from 19 cities in Hebei, Shandong, Jiangsu, Zhejiang, Fujian, and Guangdong provinces, total ribonucleic acid (RNA) was extracted and amplified the HIV-1 pol gene region by nested polymerase chain reaction (PCR) after reverse transcription. Then sequences were used to construct a phylogenetic tree to determine genetic subtypes and submitted to the Stanford drug resistance database for drug resistance analysis. Results: A total of 479 samples were successfully amplified by PCR. The HIV-1 genetic subtypes included CRF01_AE, CRF07_BC, B, CRF55_01B, CRF59_01B, CRF65_cpx, CRF103_01B, CRF67_01B, CRF68_01B and unrecognized subtype, which accounted for 43.4%, 36.3%, 6.3%, 5.9%, 0.8%, 0.8%, 0.4%, 0.4%, 0.2% and 5.5%, respectively. The distribution of genetic subtypes among provinces is statistically different (χ2=44.141, P<0.001). The overall PDR rate was 4.6% (22/479), the drug resistance rate of non-nucleoside reverse transcriptase inhibitors, nucleoside reverse transcriptase inhibitors, and protease inhibitors were 3.5% (17/479), 0.8% (4/479) and 0.2% (1/479), respectively. The PDR rate of recent infections was significantly higher than that of long-term infections (χ2=4.634, P=0.031). Conclusions: The HIV-1 genetic subtypes among MSM infected with HIV-1 from 19 cities of 6 provinces in China are diverse, and the distribution of subtypes is different among provinces. The overall PDR rate is low, while the PDR rate of recent infections was significantly higher than that of long-term infections, suggesting the surveillance of PDR in recent infections should be strengthened.
China/epidemiology*
;
Cities
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Drug Resistance
;
Drug Resistance, Viral/genetics*
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Female
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Genotype
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HIV Infections/epidemiology*
;
HIV Seropositivity/drug therapy*
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HIV-1/genetics*
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Homosexuality, Male
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Humans
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Male
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Phylogeny
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Reverse Transcriptase Inhibitors/therapeutic use*
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Sexual and Gender Minorities
8.Analysis on Antidepressant Mechanism of Verbascoside Based on RNA-Seq Technology
Xiaoyan XUE ; Jin PAN ; Huishan SHI ; Yong WANG ; Jiang WU ; Zhili GAO ; Qiancheng MAO ; Hualin ZHONG ; Ting MA ; Ke MA
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(14):148-157
9.Application of copy number variation sequencing combined with short tandem repeat in analysis of abortion and prenatal diagnosis.
Yuanbao ZHANG ; Xiaolian XU ; Cun HUANG ; Yong LI ; Xinzhe HONG ; Liangwei MAO ; Jiong GAO ; Weijun PAN
Chinese Journal of Medical Genetics 2021;38(6):577-580
OBJECTIVE:
To explore the cause of abortion and strategy of prenatal diagnosis for pregnant women with high risk for chromosomal abnormalities by using copy number variation sequencing (CNV-seq) and short tandem repeats (STR) analysis.
METHODS:
A total of 36 samples were collected, including amniotic fluid, abortion tissue, whole blood, chorionic villi and umbilical cord blood. CNV-seq and STR analysis were carried out to detect microdeletions, microduplications, chromosomal aneuploidies, mosaicisms and triploidies.
RESULTS:
Among all samples, 1 was detected with 4p15.1p16.3 and 14q11.1q22.1 duplication, 1 was detected with 19p13.3 deletion, 8 were detected with chromosomal aneuploidies, 4 were detected with mosaicisms, two were detected with triploidies. No definite pathogenic CNVs were detected in 20 samples, which yielded a positive detection rate of 44.44%.
CONCLUSION
As a high-throughput detection method, CNV-seq has the advantages of rapidity, simplicity and high accuracy. It may suit prenatal diagnosis and analysis of abortion factors in combination with STR analysis.
Abortion, Spontaneous/genetics*
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DNA Copy Number Variations
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Female
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Humans
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Karyotyping
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Microsatellite Repeats
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Pregnancy
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Prenatal Diagnosis
10.Posterior column osteotomy for the treatment of "Lenke 5-like" lumbar congenital scoliosis
Xiyu PAN ; Jun QIAO ; Zhen LIU ; Saihu MAO ; Xu SUN ; Zezhang ZHU ; Yong QIU
Chinese Journal of Orthopaedics 2021;41(22):1598-1606
Objective:To explore the efficacy and correction mechanism of posterior column osteotomy for treatment of "Lenke 5-like" lumbar congenital scoliosis.Methods:From April 2008 to September 2019, 16 patients with lumbar congenital scoliosis underwent posterior column osteotomy were retrospectively reviewed including 6 males and 10 females, aged 23.9±11.7 years (range, 14-48 years). Among them, 8 cases were unsegmentation, 5 malformation and 3 mixed type. The average segments of PCO were 5.3. Posterior column osteotomy was adapted after the insertion of pedicle screws, then removed spinous process, ligaments, superior and inferior facet and corrected the deformity with the rods. The pre- and post-operative and last follow-up radiographic parameters were measured: Cobb angle of lumbar curve, distance between C 7 plumbline and center sacral vertical line (C7PL-CSVL), deformity angle (DA), disc correction angle (DCA) of instrumented segments, disc angle above upper instrumented vertebra (DAAU), lower instrumented vertebra disc angle (LDA), upper instrumented vertebra slope (US), lower instrumented vertebra slope (LS), lower instrumented vertebra offset (LO) and sagittal parameters such as thoracic kyphosis (TK), lumbar lordosis(LL) and thoracic junctional kyphosis (TJK). The Scoliosis Research Society-22 questionnaire (SRS-22) were conducted at preoperation and the final follow up to evaluate the clinical outcomes. Results:The mean follow-up period was 16.69±7.65 months (range, 12-36 months). The coronal DA was 26.74°±10.59° while the sagittal DA was 14.70°±11.63°. The pre- and post-operative Cobb angle were 51.19°±12.91° and 23.25°±12.86° while the correction rate was 57.17%±16.31% and reached 24.26°±13.19° in the last follow-up. The improvement of DAAU, LDA, US, LS, and LO pre- and post-operative had statistical significance ( P<0.001). The pre- and post-operative and the last follow-up C 7PL-CSVL were 27.13±17.08 mm, 21.81±12.80 mm and 20.24±15.02 mm. The pre-operative, postoperative and last follow-up DAAU were -4.35°±2.12°, 1.36°±2.34° and 1.60°±2.45°. The pre- and post-operative LDA were -7.03°±4.40° and 2.42°±3.39°, and the last follow-up LDA was 2.81°±2.98°. US and LS decreased from pre-operative 12.01°±8.33° and 21.46°±5.79° to 2.84°±7.52° and 11.64°±6.06°. The mean US and LS were 4.22°±6.56° and 11.56°±6.02° in the last follow-up. LO decreased after surgery and keep unchanged in the last follow-up, which were 12.71°±6.43°, 6.31°±5.17° and 7.01°±4.73°, respectively. For the sagittal plane parameters, the changes of TK, LL, and TJK reached statistical significance through the surgery. LL increased from 33.69°±14.01° to 44.28°±10.07° through the surgery and reached 41.97°±6.69° at the last follow-up while TK increased from 13.41°±12.37° to 23.52°±8.10°, TJK decreased from 29.02°±20.74° to 16.20°±12.62° after the surgery and reached 16.07°±13.33° at the last follow-up. The pre-operative, post-operative and last follow-up thoracic kyphosis were 13.41°±12.37°, 23.52°± 8.10°, and 24.21°±7.39°. There was no statistical significance of the change of C 7PL-CSVL, SVA, SSA and PI-LL through the surgery ( P>0.05). At the final follow-up, the self-image and psychologic status scores of SRS-22 were significantly higher than that before surgery ( t=15.457, P<0.001; t=14.726, P<0.001), and there was no significant difference in the rest of the domain ( P>0.05). Conclusion:"Lenke5-like" lumbar congenital scoliosis could obtain satisfactory correction of coronal and sagittal deformities with the treatment of posterior column osteotomy, while there was no significant loss of correction during follow-up. The incidence of surgical complications is low.

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