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Table of Content

10 January 2023, Volume 39 Issue 1
Review

Clinical diagnosis,treatment and progress of non ⁃ classical 21 hydroxylase deficiency 

ZHANG Ying, LIU En.
2023, 39(1):  1-5.  doi:10.3969/j.issn.1006⁃5725.2023.01.001
Abstract ( 361 )  
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Non⁃classical 21⁃hydroxylase deficiency(NC⁃21OHD)is one of the most frequent autosomal recessive hereditary diseases. Its phenotype is usually considered diverse and lack specificity,such as polycystic ovarian syndrome(PCOS)and frequently misdiagnosed. Meanwhile,evidence ⁃ based diagnosis and follow ⁃ up management strategies faces many difficulties and many controversial scientific problems due to NC ⁃ 21OHD. We systematically discuss the clinical features,diagnosis and therapy to improve the awareness of the disease.

Clinical Advances

The application and the current research status of vaccine in respiratoryinfectious diseases

LI Rou, LING Feixiang, MA Libing.
2023, 39(1):  6-11.  doi:10.3969/j.issn.1006⁃5725.2023.01.002
Abstract ( 326 )  
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Respiratory infectious diseases are a major cause of health problems in the elderly and children,causing a huge burden of disease. Vaccines have played an important role in the prevention and control of respiratory infectious diseases and have greatly protected the health of the population,especially the elderly and children,such as the pneumococcal vaccine,Haemophilus influenzae vaccine,tuberculosis vaccine and influenza vaccine.Although many respiratory infectious diseases are vaccine ⁃preventable and the protective effect of vaccination has been confirmed by various studies,the current vaccination coverage of the target population is generally low and the health protection value of vaccines is underutilised. This paper provides a brief review of the current status and progress of research on the use of vaccines related to the main respiratory infectious diseases.

Basic Research

Role of LncRNA H19 in pyrophosis of glomerular podocyte induced by high glucose

WANG Lexin , LIU Chao, MA Tianlong, YANG Anning, XIONG Jiantuan, WU Kai, JIAO Yun, BAI Zhigang, JIANG Yideng, MA Shengchao, ZHANG Xu, LU Guanjun
2023, 39(1):  12-20.  doi:10.3969/j.issn.1006⁃5725.2023.01.003
Abstract ( 298 )  
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Objective To investigate the role of lncRNA H19 in pyrophosis of glomerular podocyte induced by high glucose(HG). Methods The background expression of lncRNA H19 in HG was detected by qRT PCR;western blot was used to detect the expression of Nephrin and Podocin;detection of NLRP3,Caspase⁃1 and IL⁃1β expression level was performed by using western blot and immunofluorescence. QRT⁃PCR was used to detect the mRNA expression of lncRNA H19 after transfection of Ad lncRNA H19 and si lncRNA H19. The cell transfec⁃ tion were set as follows:(1)control group(without treatment),negative control group of lncRNA H19 overexpres⁃ sion,lncRNA H19 overexpression group;(2)control group(without treatment),negative control group of lncRNA H19 interference and lncRNA H19 interference group(si lncRNA H19⁃1,si lncRNA H19⁃2,si lncRNA H19⁃3). Detection of NLRP3,Caspase⁃1 and IL⁃1βexpression level after transfection with Ad lncRNA H19 and si lncRNA H19 was performed by western blot. The cell transfection were set as follows:(1)control group(without treatment)high glucose group,lncRNA H19 overexpression control+high glucose group,lncRNA H19 overexpression+high glucose group,(2)control group(without treatment),high glucose group,lncRNA H19 interference control+high glucose group,and lncRNA H19 interference+high glucose group. Results (1)Compared with that in the control group(without treatment),the expression of lncRNA H19 was low in the process of renal podocyte injury induced by high glucose(P < 0.05),and the low expression of lncRNA H19 led to higher expression of pyrophosis⁃related proteins NLRP3,Caspase⁃1,and IL⁃1 β. There was a negative correlation between the expression of lncRNA H19 and the expression of pyrophosis⁃related proteins.(2)Compared with that in the control group(without treatment), the expression level of Nephrin and Podocin in renal podocytes decreased during the process of injury induced by high glucose(P < 0.05).(3)Compared with that in the lncRNA H19 overexpression control+ high glucose group overexpression of lncRNA H19 alleviated high glucose induced nephropodocyte pyrophosis,and the expression of pyrophosis⁃related proteins NLRP3,Caspase⁃1,and IL⁃1 β was low(P < 0.05).(4)Compared with that in the lncRNA H19 interference control+high glucose group,the interference of lncRNA H19 promoted the high glucose⁃ induced podocyte pyrophosis,while the pyrophosis⁃related proteins NLRP3,Caspase⁃1,and IL⁃1 β were highly expressed(P < 0.05). Conclusion In the process of podocyte pyrophosis induced by high glucose,lncRNA H19 can regulate the expression of pyrophosis⁃related proteins,which provides theoretical basis for the treatment of dia⁃ betic nephropathy in the future.

miR21⁃5p targets transcriptional activator protein STAT3 to alleviate hyperoxia⁃induced acute lung injury

ZHOU Xiangui, JIANG Yan, HAN Mei, ZHEGN Jie, QIN Song.
2023, 39(1):  21-27.  doi:10.3969/j.issn.1006⁃5725.2023.01.004
Abstract ( 291 )  
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Objective To investigate the role and mechanism of miR21⁃5p regulating transcriptional acti⁃ vator protein STAT3 in hyperoxia ⁃induced acute lung injury(HALI). Methods Forty C57BL/6J mice were ran⁃ domly divided into normoxia group,hyperoxia group,hyperoxia+miR21⁃5p group,hyperoxia+empty carrier group and the HALI mouse model was established by inhaling more than 90% oxygen concentration. The normoxia group was raised in normal air;the hyperoxia+miR21⁃5p group and the hyperoxia+empty vector group were instilled with miR21⁃5p AAV6 or empty vector through the tracheal tube,respectively,and the HALI mouse model was estab⁃ lished after three weeks of feeding. After 48 hours of hyperoxia exposure,lung tissue was collected,and ELISA kits were used to detect the levels of inflammatory factors(TNF ⁃α,IL ⁃6,IL ⁃1β)and oxidative stress markers (SOD,MDA,ROS);the lung water content was calculated;Morphological changes were observed by HE staining and pathological scoring;Tunel method to detect apoptosis rate of lung tissue cells;RT⁃PCR was used to detect the expression level of miR21⁃5p;Western blotting was used to detect the relative expression levels of STAT3 p⁃STAT3,Bax and Bcl⁃2. Results Compared with the normox group,the pathological score,lung water content and apoptosis rate of lung tissue cells in the hyperoxia group were increase(P < 0.05),and the inflammatory factor TNF ⁃α,IL ⁃6 and IL ⁃1 β The level of MDA and ROS increased(P < 0.05),the level of SOD decreased (P < 0.05),the expression of STAT3,p⁃STAT3 and Bax protein increased(P < 0.05),and the expression of Bcl⁃2 protein decreased(P < 0.05);Compared with the hyperoxia group,the pathological score,lung water content and apoptosis rate of lung tissue cells in the hyperoxia + miR21⁃5p group were reduced(P < 0.05),and the inflamma⁃ tory factor TNF⁃ α、IL⁃6 and IL⁃1 β The level of MDA and ROS decreased(P < 0.05),the level of SOD increased (P < 0.05),the expression of STAT3,p⁃STAT3 and Bax decreased(P < 0.05),and the expression of high Bcl⁃2 protein increased(P < 0.05). HE staining in the hyperoxia group showed disordered alveolar structure,septal thickening,extensive infiltration of inflammatory cells,formation of transparent membrane,and alveolar collapse. HE staining results in hyperoxia + miR21 ⁃ 5p group showed a significant reduction of lung injury. Conclusion miR21 ⁃ 5p targets transcriptional activator protein STAT3 activity to inhibit inflammatory response and apoptosis and maintain redox balance to alleviate HALI.

Role of METTL3/AMPK pathway in sevoflurane ⁃induced cognitive impairment in mice

ZHONG Zhaom⁃ ing, CAO Lei, YAO Liqun, HUANG Yongzhen.
2023, 39(1):  28-34.  doi:10.3969/j.issn.1006⁃5725.2023.01.005
Abstract ( 178 )  
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Objective To investigate the role of m6A methyltransferase 3(METTL3)/AMP⁃activated pro⁃ tein kinase(AMPK)pathway in sevoflurane(SEV)⁃induced cognitive impairment in mice. Methods The 6⁃day⁃ old mice were randomly divided into 4 groups(8 in each group):Ctrl plus sh⁃NC group,SEV plus sh⁃NC group Ctrl plus sh ⁃METTL3 group and SEV plus sh ⁃METTL3 group. Spatial memory was assessed by the Morris water maze test at postnatal days 60 to 65. The mice were then sacrificed to collect hippocampal tissues for analyzing mRNA m6A methylation by Dot blot. The dendrites in the DG subregion of hippocampus were observed by Golgi staining,and protein expressions of METTL3 and AMPK were detected by immunoblot analysis. In vitro assay was conducted to investigate the effect of up⁃regulation of METTL3 on mA level and AMPK mRNA stability in mouse hippocampal neuron cell line(HT⁃22). Results Levels of m6A and methyltransferase METTL3 were significantly increased in the hippocampus of mice exposed to SEV(P < 0.05). As compared with the sh⁃NC plus SEV group the escape latency in the sh⁃METTL3 plus SEV group was significantly shortened(P < 0.05),the platform crossing time and quadrant time were significantly increased(P < 0.05),as well as the number of dendritic spines and expressions of BDNF and p⁃AMPK were significantly increased(P < 0.05). METTL3⁃overexpressed plasmid signifi⁃ cantly increased m6A levels in HT⁃22 cells(P < 0.01),while significantly decreasedexpressions of BDNF and p⁃AMPK(P < 0.05). METTL3 upregulation significantly reduced AMPK mRNA stability(P < 0.05). Conclusions METTL3 knock⁃down can alleviate the cognitive impairment induced by SEV in young mice through a decrease in AMPK mRNA stability mediated by m6A.

STIP1 may affect ventricular myoelectric conduction after hypothermic ischemia⁃reperfusion by regulating the expression of Cx43

AN Li, GAO Hong, LIU Yanqiu, ZHONG Yi, CAO Ying, YI Jing, LIU Yang, TONG Rui, PAN Zhijun, WANG Shengzhao, WU Hao, LIU Meiyan
2023, 39(1):  35-40.  doi:10.3969/j.issn.1006⁃5725.2023.01.006
Abstract ( 264 )  
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Objective To investigate the changes of ventricular myoelectric conduction and its possible mechanism in hypothermic ischemia⁃reperfusion arrhythmia rats. Methods Healthy male SD rats aged 2 ~ 3 months were selected to prepare isolated heart perfusion models(n = 16). The rat models were randomly divided into normal control group(C group,continuous perfusion of 37 ℃ K⁃H solution for 120 min)and hypothermic ischemia⁃reper⁃ fusion group(IR group,continuous perfusion of 37 ℃ K⁃H solution for 30 min,reperfusion stopped for 60 min and then reperfusion for 30 min),with 8 rats in each group. Heart rate(HR),conduction velocity(CV)and elec⁃ trical conduction chart at the timepoint of continuous perfusion for 15 min(T0),continuous perfusion for 30 min (T1),reperfusion for 15 min(T2)and reperfusion for 30 min(T3)were collected,and the arrhythmia was recorded. The expression and distribution of STIP1 and Cx43 in the anterior wall of left ventricle after reperfusion were detected by western blot and immunohistochemistry. Results IR group had 7 cases of arrhythmia during reperfusion. Anlayis on IR group showed,HR and CV were decreased significantly at T2 and T3 when compared with T0 and T1(all P < 0.05)and the conduction direction showed divergent change. The expression of STIP1 and Cx43 protein in myocar⁃ dial tissue of IR group were apparently decreased when compared with C group(both P < 0.05),and Cx43 positive stained particle numbers in IR group were also decreased,in which the phenomenon of lateralization was observed. Conclusions STIP1 may affect ventricular myoelectric conduction after hypothermic ischemia⁃reperfusion by regu⁃ lating the expression of Cx43.

Influence of long non ⁃coding RNA XIST on epithelial ⁃mesenchymal transition in ovarian cancer cells by regulating miR⁃340⁃5p

JIANG Ping, GUO Zhe, LIANG Dianxun, YANG Xike, FU Xiaoling, LI Heli
2023, 39(1):  41-47.  doi:10.3969/j.issn.1006⁃5725.2023.01.007
Abstract ( 218 )  
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Objective To investigate the influence of long non⁃coding RNA X⁃inactive specific transcript (lncRNA XIST)on epithelial ⁃mesenchymal transition(EMT)of ovarian cancer cells by regulating miR ⁃340⁃5p. Methods Real⁃time quantitative PCR(RT⁃qPCR)was performed to determine expression levels of lncRNA XIST and miR ⁃340⁃5p in ovarian cancer tissues and cell lines. A2780 cells were divided into a control group,si ⁃NC group,si⁃lncRNA XIST group,si⁃lncRNA XIST+NC inhibitor group,and si⁃lncRNA XIST+miR⁃340⁃5p inhibitor group. Dual ⁃luciferase reporter assay was performed to confirm the regulatory relationship between lncRNA XIST and miR ⁃340⁃5p;scratch test and Transwell assay were performed to detect the migration and invasion abilities ofthe cells. The mRNA and protein expressions of EMT marker proteins(E ⁃cadherin,N ⁃cadherinand Vimentin were analyzed by RT ⁃ qPCR,Western blot andimmunofluorescence staining. Results In ovarian cancer tissues and cell lines,lncRNA XIST was highly expressed,and miR⁃340⁃5p was in low expression(P < 0.05). The A2780 cells with the highest expression of lncRNA XIST were selected as a transfection target. lncRNA XIST was able to directly down⁃regulate the expression of miR⁃340⁃5p(P < 0.05). After transfection of si⁃lncRNA XIST,the level of lncRNA XIST,scratch healing rate,number of invasive cells,and expressions of N⁃cadherin and Vimentin were decreased,whereasexpression of E⁃cadherin was increased;after co⁃transfection of si⁃lncRNA XIST with miR⁃340⁃ 5p inhibitor,the above indexes were reversed(P < 0.05). Conclusions LncRNA XIST accelerates EMT in ovarian cancer cells by down⁃regulating miR⁃340⁃5p.

Clinical Research

Predictive value of serum HSP70,HSP90 and GAS level in severe craniocerebral injury complicated with stress ulcer

LI Bing , QIAO Peng, XIAO Zhengzheng.
2023, 39(1):  48-53.  doi:10.3969/j.issn.1006⁃5725.2023.01.008
Abstract ( 258 )  
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Objective To explore the predictive value of serum heat shock protein 70(HSP70),heat shock protein 90(HSP90)and gastrin(GAS)level in severe craniocerebral injury complicated with stress ulcer. Methods A total of 126 patients with severe craniocerebral injury were selected. Serum level of HSP70,HSP90 and GAS were detected by enzyme⁃linked immunosorbent assay(ELISA)after admission,and standard decompres⁃ sive craniectomy combined with lumbar cistern drainage was performed. The incidence of stress ulcer was analyzed and the relationship of serum HSP70,HSP90 and GAS level with stress ulcer and the predictive effect of HSP70 HSP90 and GAS level were analyzed. Results The incidence of stress ulcer was 32.17% . The level of serum HSP70,HSP90 and GAS in patients with stress ulcer were higher than that in patients without stress ulcer(P < 0.05). Age,GCS of 3⁃5 at admission,serum HSP70,HSP90 and GAS level,TRF level,and random blood glucose level after admission,hypotension,hypoxemia,metabolic acidosis and application of glucocorticoid were risk factors of stress ulcer(P < 0.05),while Hb level after admission,HCT after admission,application of gastric mucosal protective drugs and ulinastatin were the protective factors(P < 0.05). The sensitivity of combination of serum HSP70,HSP90 and GAS level in predicting severe craniocerebral injury complicated with stress ulcer was higher than that of each single index(P < 0.01),and AUC was larger than that of single index prediction(P < 0.05). There was no significant difference in specificity between the combination and single prediction(P > 0.05). Conclusion The increase of serum HSP70,HSP90 and GAS level can increase the risk of stress ulcer in severe brain injury. Age,and GCS of 3⁃5 at admission are the risk factors as well,while Hb level and HCT after admission are the protec⁃ tive factors. The combined prediction of HSP70,HSP90 and GAS level is highly effective for predicting stress ulcer.

Effect of neonatal iron store on neurodevelopment of 6 ⁃ month ⁃ old infants

WANG Jing, HU Dandan, ZHANG Yue, WU Zhihua, MA Jie, WEI Ru.
2023, 39(1):  54-59.  doi:10.3969/j.issn.1006⁃5725.2023.01.009
Abstract ( 276 )  
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Objective To investigate the effect of neonatal iron store on neurodevelopment of infants aged 6 months. Methods A total of 129 neonates born from November 2016 to January 2018 were prospectively selected. Cord blood ferritin,C⁃reactive protein and α1 acid glycoprotein were detected by enzyme⁃linked immunosorbent assay. According to the ferritin concentration in the cord blood,the neonates were divided into three groups:suffi⁃ cient,insufficient and deficient. Standard questionnaire was used to collect the data of parents and infants,and Gesell developmental diagnostic scale was used for evaluation of their neurodevelopment,with a follow ⁃ up of 6 months. The groups were compared in terms of the neurodevelopment. Results The average ferritin concentration of cord blood was(75.3 ± 45.0)μg/L,including 22 cases(17.1%)in the ferritin deficient group and 54 cases (41.9%)in the ferritin insufficient group. At 6 months of age,there were significant differences in the normal rates of adaptability and gross motor among the 3 groups(P < 0.05). There were significant differences in the normal rates of adaptability and gross motor between the ferritin deficient and sufficient group(P < 0.05). Conclusion Ferritin deficiency and insufficiency are common in neonates. The proportion of newborns with cord blood ferritin sufficient to achieve normal scores in adaptability and gross motor at 6 months of age is higher than that of neonates with cord blood ferritin deficient. Iron nutrition during pregnancy and iron store in neonates deserves further attention.

Bone mineral density of lumbar spine QCT and spinal fragility fractures in middle⁃aged and elderly people in Guizhou province

LI Xiaohai, XIE Guangyou, LIANG Lisong, LIU Jiangyong, ZENG Xianchun, WANG Rongpin.
2023, 39(1):  60-65.  doi:10.3969/j.issn.1006⁃5725.2023.01.010
Abstract ( 233 )  
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Objective To analyze the bone mineral density of lumbar spine QCT and spinal fragility fractures in middle⁃aged and elderly people in Guizhou province. Methods A total of 2,380 middle⁃aged and elderly patients over 50 who underwent QCT bone mineral density examination in our hospital were enrolled. The QCT bone mineral density value was analyzed,and the correlation between QCT bone mineral density and spinal fragility fracture was analyzed by sex,age and group. Results The proportion of normal bone mass,osteopenia osteoporosis and severe osteoporosis was 80.00% ,16.26% ,2.82% and 0.92% ,respectively. The incidence of osteoporosis was 3.74%,8.17% in females and 2.52% in males,respectively,which was significantly higher in females than in males(χ2 = 35.769,P < 0.001). The proportion of low bone mass was 16.26%,21.40% in females and 14.84% in males,respectively,showing statistical significance(χ2 = 12.721,P < 0.001). With the increase of age,the bone mineral density of the population over 60 decreased,and the prevalence of osteoporosis gradually increased,especially in women,with statistical significance(P < 0.05). The prevalence of bone mass loss in men and women aged 50 ~ 59 years,60 ~ 69 years and 70 ~ 79 years increased gradually with the increase of age,especially in women(P < 0.05). There were 42 cases(1.76%)of spinal fragility fractures,including 31 males and 11 females showing no significant difference(P > 0.05). The incidence of fracture in patients with osteoporosis(14.61% was significantly higher than that in patients without osteoporosis(1.27%),and the difference was statistically significant(P < 0.001). Bone mineral density with and without spinal fragility fracture were(99.40 ± 41.78)mg/cm3 and(141.98 ± 30.56)mg/cm3 ,respectively,and the difference was statistically significant(P < 0.001). The bonemineral density of the middle aged and the elderly in different age groups was significantly lower than that of the same age group without spinal fragility fracture(P < 0.05). Conclusion QCT bone mineral density of lumbar spine can accurately reflect vertebral bone mass,and provide a quantitative basis for the prediction and prevention of osteoporosis and spinal fragility fractures in the middle⁃aged and elderly.

Predictive value of consciousness index in sedation depth in infants and children with intranasal dexmedeto⁃ midine during echocardiography

HUANG Yaying, LUO Hao, HUANG Junxiang, SONG Xingrong, TAN Yong⁃ hong, LI Bilian.
2023, 39(1):  66-70.  doi:10.3969/j.issn.1006⁃5725.2023.01.011
Abstract ( 213 )  
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Objective To investigate the value of index of consciousness (IoC in predicting the sedation depth in infants and children with different doses of intranasal dexmedetomidine during echocardiography. Methods A total of 254 children patients with non ⁃ cyanotic congenital heart disease undergoing transthoracic echocardiography were divided into group A(intranasal dexmedetomidine 3 μg/kg,n = 127)and group B(intranasal dexmedetomidine 4 μg/kg,n = 127). And IoC values were monitored before sedation(T0),before examination (T1),during examination(T2),after examination(T3),and when leaving the room(T4). Correlation analysis and receiver⁃operating characteristic(ROC)curve were used to analyze the predictive value of IoC,The University of Michigan Sedation Scale(UMSS)score,body movement score and behavior score for the sedation depth,and the area under the ROC curve was calculated. Results The sedation success rate in group B was significantly higher than that in group A(P < 0.05). The IoC value at T1,T2,T3 in group B was significantly lower than that in group A (P < 0.05). Correlation analysis showed that IoC value was negatively correlated with UMSS score(r = -0.792 P < 0.01),but positively with behavior score(r = 0.429,P < 0.01). ROC analysis showed that IoC had a better predictive value for sedation depth than other monitoring indicators. Conclusion Compared with sedation score and behavior score,IoC has better predictive value for the depth of sedation in infant and children echocardiography.

Correlation between remnant cholesterol levels and the severity of coronary artery stenosis in patients with ACS

JU Mingfei, LIU Chao, LIU Jiamei, SHAO Wen′ge, LIU Tingting, ZHAO Juan.
2023, 39(1):  71-75.  doi:10.3969/j.issn.1006⁃5725.2023.01.012
Abstract ( 234 )  
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Objective Explore the correlation between levels of remnant cholesterol(RC)and the severity of coronary artery stenosis in patients with acute coronary syndromes(ACS),and evaluate the predictive value of RC on the degree of coronary artery stenosis in patients with ACS. Methods A total of 376 ACS patients treated in the department of cardiology of the Affiliated Hospital of Chengde Medical University from April 2019 to March 2020 are divided into two groups,namely,the mild stenosis(Gensini < 36)group and the moderate to severe stenosis group(Gensini ≥ 36)according to the score results of coronary arteriography Gensini. Meanwhile,basic clinical data and blood lipids of the two are compared. Besides,the analyze ⁃ regression ⁃ binary logistic method is used to analyze the correlation between RC levels and coronary artery stenosis severity,while the ROC curve is employed to predict the accuracy of RC on the degree of coronary stenosis in patients with ACS. Results In the single variable analysis of this study,common risk factors for the severity of coronary artery stenosis among ACS patients like men,cigarette smoking,hypertension,and diabetes mellitus,vary significantly between the two groups. Compared with the mild stenosis group,the level difference of TG,non⁃HDL⁃C,RC,LDL⁃C,HDL⁃C ALB and CRE in the moderate to severe stenosis group(P < 0.05)is statistically significant. Through Analyze⁃ Regression ⁃binary logistic,it is revealed that hypertension,cigarette smoking,diabetes mellitus,HDL⁃C,non ⁃ HDL⁃C,and RC are the independent risk factors for the severity of coronary artery stenosis in ACS patients(P < 0.05). The ROC curve shows the area under the coronary stenosis severity curve of serum RC prediction in ACS patients of 0.733. Conclusion RC is positively correlated with the degree of coronary artery vascular stenosis in ACS patients,and RC can be an early screening indicator to predict the degree of coronary artery stenosis. RC which is positively correlated with the degree of coronary artery vascular stenosis in ACS patients,can be turned into an early screening indicator to predict the degree of coronary artery stenosis.

Clinical genetic analysis of a family with abnormal fetal genitalia in two pregnancies

ZHANG Ya′nan, XI Hui, FANG Fang, JIA Zhengjun, PANG Jialun, KUANG Haiyan, ZHANG Wei, PENG Ying.
2023, 39(1):  76-80.  doi:10.3969/j.issn.1006⁃5725.2023.01.013
Abstract ( 178 )  
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Objective To identify the genetic etiology of a family with abnormal genital abnormal fetal genitalia in two pregnancies and to provide reference for effective genetic counseling. Methods After karyotype analysis,ultrasound examination and autopsy of cord blood were used to make a preliminary diagnosis,CYP21A2 gene mutation was detected in the fetus and family members,and the source of mutation was verified. Results The karyotype of blood chromosome was 46,XX,inv(9)(p11q13). Ultrasonography showed abnormal fetal genitalia and adrenal enlargement. The results of autopsy were consistent with those of ultrasound examination,and the pathological examination showed the adrenal cortex of the fetus was microcapsule hyperplasia. Restriction fragment length polymorphism analysis of PCR⁃amplified fragments for the CYP21A2 gene showed the fetus had a large homozygous deletion(~30 kb),and both parents were carriers. We also identified 11 homozygous CYP21A2 gene variants in the fetus,including c.92C > T(p.P31L),c.293⁃13C > G,c.332_339del8(p.G111Vfs*21),c.518T > A (p.I173N),c.710T > A(p.I237N),c.713T > A(p.V238E),c.719T > A(p.M240K),c.844G > T(p.V282L), c.923dupT(p.L308Ffs*6)、c.955C > T(p.Q319*)and c.1069C > T(p.R357W),which were inherited from both parents. These homozygous variants indicated the formation of CYP21A1P/CYP21A2 chimeric gene due to the 30 kb homozygous deletion,resulting in inactivated of the CYP21A2 gene. Conclusions The mutation of CYP21A2 gene is the cause of 21⁃hydroxylase deficiency,which caused the fetus with external genital malformation in two pregnancies in this family. The combination of cord blood chromosome karyotype analysis,prenatal ultrasound and autopsy verification,and appropriate genetic testing programs clarified the cause of the genetics,providing an important basis for genetic counseling and prenatal diagnosis of the family.

Prognostic value of coagulation function index combined with serum cystatin C in patients with septic acute kidney injury
LI Xiaoling, ZHOU Wenjie, DENG Wei, MA Xigang.
2023, 39(1):  81-85.  doi:10.3969/j.issn.1006⁃5725.2023.01.014
Abstract ( 266 )  
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Objective To explore the prognostic value of coagulation function index combined with serum cystatin C(CysC)in patients with acute kidney injury(AKI)caused by sepsis. Methods A prospective study was performed. Seventy ⁃eight patients with septic AKI hospitalized in the ICU of Ningxia Medical University General Hospital from October 2018 to June 2020 were selected and divided into death group and survival group according to the 28⁃day outcome. Clinical data such as sex,age,past medical history,acute physiology and chronic health evaluation Ⅱ(APACHE Ⅱ)score and laboratory indexes such as platelet count(PLT),prothrombin time(PT), activated partial clotting enzyme live time(APTT),fibrinogen(Fib),D ⁃ dimer,antithrombin Ⅲ(AT Ⅲ)activity activity of protein C(PC),protein S(PS)activity and serum CysC were collected and compared in the two groups. Univariate and multivariate logistic regression were used to analyze the risk factors affecting the prognosis ofpatients with septic AKI. And receiver operating characteristic(ROC)curve was drawn to evaluate the prognostic value of related indicators. Spearman correlation analysis was used to analyze the correlation between coagulation function index and serum CysC. Results All the 78 patients with septic AKI were included in the final analysis including 55 males(70.51%)and 23 females(29.49%),with a ratio of 2.39∶1. The age ranged from 19 to 86,and the average age was(59.3 ± 16.2). Thirty⁃six patients died after 28 days,with a fatality rate of 46.2%. Univariate analysis showed that the score of PT,APTT,D⁃dimer,serum CysC and APACHEⅡ in death group were signifi⁃ cantly higher than those in the survival group[PT(S):18.0 ± 2.3 vs. 16.3 ± 2.9,APTT(S):42.7 ± 7.1 vs. 38.1 ± 7.1,D⁃dimer(mg/L):6.8(5.6,9.7)vs. 5.5(3.0,8.7),CysC(mg/L):3.1 ± 1.4 vs. 1.9 ± 1.0,APACHEⅡscore 26.1 ± 5.7 vs. 19.2 ± 4.4,both P < 0.01). Fib and PLT in the death group were significantly lower than those in the survival group[Fib(g/L):1.7(1.4,2.1)vs. 2.8(1.8,3.7),PLT(× 109 /L):81.9 ± 32.8 vs. 128.7 ± 64.6,both P < 0.01]. Sex,age,past medical history,ATⅢ,PS and PC in the two groups showed no significant difference(All P > 0.05). Multivariate logistic regression analysis showed that Fib,PLT,serum CysC and APACHEⅡ score were independent risk factors for the prognosis of septic AKI patients[odds ratio(OR)and 95% confidence interval (95%CI)respectively were 0.24(0.09 ~ 0.67),0.97(0.95 ~ 0.99),2.28(1.06 ~ 5.38),1.40(1.14 ~ 1.72)All P < 0.01]. ROC curve analysis showed that the area under ROC curve(AUC)of APACHEⅡ score,Fib,serum CysC and PLT for predicting mortality on 28 days of sepsis AKI was 0.84,0.77,0.76 and 0.75,respectively (All P < 0.05). The predictive value of the combination of the 4 indexes(AUC = 0.95)was better than that of the single index(P < 0.05). Correlation analysis showed that PT,APTT and CysC were significantly positively corre⁃ lated(r value was 0.31,0.49,respectively P < 0.01). Conclusion Fib,PLT,serum CysC and APACHEⅡ score can be used as prognostic indicators for patients with septic AKI.

Dosimetric advantages of respiratory ⁃ triggered prospective gating in stereotactic body radiation therapy for early stage non⁃small⁃cell lung cancer 

QIAN Han, WANG Hongyan, WANG Fan
2023, 39(1):  86-91.  doi:10.3969/j.issn.1006⁃5725.2023.01.015
Abstract ( 292 )  
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Objective To investigate the dosimetric advantages of respiratory ⁃triggered prospective gating in stereotactic body radiation therapy(SBRT)for early⁃stage non⁃small⁃cell lung cancer(NSCLC). Methods A total of 21 patients with pathologically confirmed early ⁃stage NSCLC were selected and received free ⁃breathing 3D ⁃ CT,4D⁃CT cine mode and end⁃expiratory prospective respiratory⁃triggered axial⁃R mode scans,respectively. With FFF,VMAT and SBRT technology under the same condition,four corresponding plans,prospective gating(Planpro), 30% ~ 70% temporal retrospective gating(Plan30⁃70),motion enveloped method(Planall)and conventional population margin⁃based 3D⁃CT(Plan3D)were designed,respectively. The planning target volume(PTV),the V5,V20,V14.4 MLD of both ipsilateral lung and bilateral lung,the normal tissue complication probability(NTCP)of the bilateral lung,heart Dmax,esophagus Dmax,the NTCP of the esophagus,spinal cord Dmax and proximal bronchial tree Dmax were compared. Results Statistically significant differences were found between Planall and Plan3D for all dosimetric parameters except spinal cord Dmax(P < 0.05). Compared with Planall,Planpro showed further reductions in PTV,ipsilat⁃ eral lung V5,V20,V14.4,MLD,bilateral lung V5,V20,V14.4,MLD,NTCP,heart Dmax and esophagus NTCP compared to Plan30⁃70 by 8.42 cc,2.06%,1.02%,26.67 cc,0.58 Gy,2.35%,0.63%,32.89 cc,0.43 Gy,0.1%,1.72 Gy and 0.09%(P = 0.004,< 0.010,0.006,< 0.001,0.006,0.004,< 0.001,0.010,< 0.001,0.005,< 0.001,0.026). Conclusion In SBRT for early ⁃ stage NSCLC,conventional population margin ⁃based 3D ⁃CT plans overestimated PTV and increased the exposure dose to organs at risk;respiratory motion management technologies,especially pro⁃ spective gating,could better protect normal tissues and organs in the chest and reduce adverse effects of radiotherapy.

The efficacy of oral appliance for comorbid insomnia and obstructive sleep apnea

ZHONG Rongbin, RAO Mingcong, HUANG Minfang.
2023, 39(1):  92-96.  doi:10.3969/j.issn.1006⁃5725.2023.01.016
Abstract ( 220 )  
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Objective This study aims to investigate the efficacy of mandibular advancement oral appliance(OA)for COMISA. Methods 14 patients with COMISA were selected as a comorbid group and 17 with primary snoring as a control group. All the patients were treated in the People′s Hospital of Guangxi Zhang Autonomous Region from April 2013 to August 2019. The polysomnography(PSG)parameters in the comorbid group before OA treatment and one month after treatment and those in the control group to treatment were compared. Results After OA treatment,sleep latency(SL),arousal index(ArI),apnea index(AI),apnea hypopnea index(AHI)decreased (P < 0.05),while total sleep time(TST),sleep efficiency(SE),N3 phase and lowest oxygen saturation(LSpO2 increased in the comorbid group(P < 0.05). As compared with the control group,the percentage of SL,ArI,N1 TST,SE and N2 was larger in the comorbid group before treatment,but the percentage of TST,SE and N2 was smaller. After treatment,REM sleep latency and ArI were larger,and TST and SE were smaller in the comorbid group(P < 0.05). Conclusions Oral appliance is a better therapy for COMISA.

Ananalysis on intestinal flora diversity in pediatric patients with different pathological types of appendicitis

LIU Yuanyuan, Nurmaimaiti, WANG Yayong, ZHOU Jingtao.
2023, 39(1):  97-102.  doi:10.3969/j.issn.1006⁃5725.2023.01.017
Abstract ( 218 )  
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Objective To investigate the structural characteristics of the appendiceal contents flora in appendicitis with different pathological types in pediatric patients from a perspective of molecular biology,and to provide a new perspective for comprehensive understanding of the pathogenic bacteria associated withappendicitis in children. Methods Based on the histopathological grouping,the pediatric patients with appendicitis were divid⁃ ed intoasimple appendicitis group(n = 6)andasuppurative appendicitis group(n = 6). The DNA from appendiceal contents was collected ,and the bacterial rRNA gene sequence V3⁃V4 high variation region was amplified and sequenced by Illumina Nova to cluster and analyze the structure,abundance and diversity inthe two groups. Results Alpha diversity analysis showedthe difference was statistically significant between the two groups(P < 0.05), and the difference was statistically significant as comparing the abundance of bacterial flora R = 0.34(P < 0.05). There were differences between the two groupsin appendicular tissue contents at the level of order,family,genus and species. At the genus level,Faecalibacterium and Agathobacter were predominant in the simple appendicitis group,while Bilophila was predominant in the pyogenic appendicitis group. Conclusions By analyzing the diversity of appendiceal contents flora in different pathological types in pediatric patientswith appendicitis,thedifferences in flora abundance and diversity between simple and purulent appendicitis can be found,providing afresh idea for histopathological studies onclinical appendicitis.

Relationship between perivascular fat density of carotid artery stenosis and cerebral infarction

NIU Wen, QIU Xiaohui, LIU Yichao.
2023, 39(1):  103-108.  doi:​10.3969/j.issn.1006⁃5725.2023.01.018
Abstract ( 138 )  
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Objective To evaluate the relationship between pericarotid fat inflammation and acute cerebral infarction,and to measure perivascular fat density(PFD)by computed tomography angiography(CTA)to reflect the inflammation of adipose tissue. Methods In this study,patients with unilateral carotid artery atherosclerosis stenosis > 50%,and completing carotid artery CTA and brain diffusion⁃weighted imaging(DWI)were enrolled. According to DWI results,the patients were divided into acute infarction group(ACI group)and non⁃acute infarc⁃ tion group(NACI group). The section of the carotid artery with the most severe lumen stenosis was selected from each patients;regions of interest(ROI)distribution were placed in the pericarotid adipose tissue on the side of the carotid artery stenosis and on the contralateral side of the axial plane,and the mean and maximum values of fat density were measured. The independent samples t ⁃test was used to evaluate the difference between the stenotic side and the contralateral PFD in the ACI group and the NACI group;the paired samples t⁃test to evaluate the difference between the stenotic side and the contralateral PFD in the two groups,and the mean and maximum values of PFD on the stenosis side of carotid artery were included in binary logistic regression analysis and ROC curve was drawn. Results The mean values(-57.87 ± 8.11 vs. -67.22 ± 8.18,P < 0.001)and maximum values (-46.53 ± 6.33 vs. -55.44 ± 7.24,P < 0.001)of PFD on stenotic side in the ACI group were higher than those inthe NACI group. There was no significant difference in the mean values(-78.82 ± 7.88 vs. -81.16 ± 7.94,P = 0.222 and maximum values(-71.32 ± 6.91 vs. -72.50 ± 6.61,P = 0.469)of PFD on contralateral side between the two groups. The paired t⁃test showed that mean values(-57.87 ± 8.11 vs. -78.82 ± 7.88,P < 0.001)and maximum values(-46.53 ± 6.33 vs. -71.32 ± 6.91,P < 0.001)of PFD on stenotic carotid artery side in the ACI group were higher than those on contralateral side,and mean values(-67.22 ± 8.18 vs. -81.16 ± 7.94,P < 0.001)and maxi⁃ mum values(-55.44 ± 7.24 vs. -72.50 ± 6.61,P < 0.001)of PFD on stenotic carotid artery side in the NACI group were also higher than those on contralateral side. Binary logistic regression analysis showed that mean values(OR = 1.185,95%CI 1.048 ~ 1.340)and maximum values(OR = 1.195,95%CI 1.054 ~ 1.353)of carotid artery PFD after adjusting for confounders were statistically significant(P < 0.05). ROC curve analysis showed that mean values of carotid artery PFD[area under the curve(AUC)0.792,95%CI 0.678 ~ 0.879,P < 0.001]and the maximum values (AUC = 0.812,95%CI 0.701 ~ 0.896,P < 0.001)had high predictive value for cerebral infarction. Conclusions Fat density around the carotid artery on stenotic side of patients with ACI is higher than that on contralateral side which indicates that the inflammatory reaction related to carotid atherosclerosis has extended to the perivascular adipose tissue. Carotid CTA technology can reflect the inflammatory of the adipose tissue around carotid artery and provide reference for the early prevention and treatment of cerebral infarction.

Drugs and Clinic Practice

The anesthetic effectiveness of esketamine versus alfentanil combined with propofol in photodynamic thera⁃ py for port⁃wine stains in pediatric patients

WANG Jiafang, LI Jin, WANG Yunfei, HU Yanyan, LI Dongsh⁃ eng, CHEN Zhijun.
2023, 39(1):  109-113.  doi:10.3969/j.issn.1006⁃5725.2023.01.019
Abstract ( 185 )  
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Objective To investigate the anesthetic effectiveness of esketamine versus alfentanil combined with propofol in photodynamic therapy for port ⁃wine stains in pediatric patients. Methods 80 pediatric patients with port⁃wine stains who had received hemoporfin⁃mediated photodynamic were selected and randomly divided into two groups,sufentanil combined with propofol group(group S,n = 40)and esketamine combined with propofol group(group A,n = 40). Anesthesia was induced and maintained with propofol in both groups. Group S was administered sufentanil 0.2 μ/kg before photodynamic therapy. In group A,esketamine 0.5 mg/kg was used before photodynamic therapy. The dosage of anesthetic drugs during treatment was recorded in both groups. Adverse events related to respiratory and circulatory system and the occurrence and degree of physical movement during photody⁃ namic therapy were noted. Anesthesia recovery time,pain scores and adverse effects during recovery period were also recorded. Results During photodynamic therapy,the incidences of hypotension,bradycardia,upper airway obstruction and hypoxemia were significantly lower in group A than in group S(P < 0.05). There were no signifi⁃ cant differences between the two groups in the overall dose of propofol,incidence of body movement,recovery time,pain score and adverse events in the recovery period(P > 0.05). Conclusions Esketamine combined with propofol can be safely and effectively used in hemoporfin⁃mediated photodynamic therapy for port⁃wine stains in pediatric patients,with little impact on breathing and circulation,and mild anesthesia⁃related adverse reactions.

Effect of different doses of tofacitinib combined with methotrexate on patients with rheumatoid arthritis and its effect on the levels of serum factors

ZHANG Yan, WANG Mingjie, XUE Yan, XU Fengjin.
2023, 39(1):  114-118.  doi:10.3969/j.issn.1006⁃5725.2023.01.020
Abstract ( 245 )  
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Objective The study aimed to explore and analyze the effects of different doses of tofacitinib combined with methotrexate on patients with rheumatoid arthritis(RA)and its effect on the levels of serum factors. Methods A total of 90 RA patients who were diagnosed and treated in Harrison International Peace Hospital from July 2019 to April 2021 were randomly assigned at a 1∶1 ratio into two groups:low⁃dose combination group(n = 45)and high ⁃dose combination group(n = 45). Patients in both groups were treated with methotrexate(10 mg once per week). Patients in low⁃dose combination group were given additional low⁃dose tofacitinib treatment(5 mg once per day),and patients in high⁃dose combination group were given additional high⁃dose tofacitinib treatment (5 mg,twice per day). Both groups were treated with continuous treatment and observation for 3 months. The mean visual analogue score(VAS),disease activity score(DAS28),the levels of C ⁃ reactive protein(CRP), erythrocyte sedimentation rate(ESR),serum factors(IL⁃35,IL⁃17,IL⁃6 and IFN⁃γ)and adverse drug reaction were compared between two groups before and after treatment. Results After treatment,the VAS scores,DAS28 scores,levels of CRP and ESR of the two groups after treatment were lower than those before treatment(P < 0.05),and these above⁃mentioned indexes in the high⁃dose combination group were significantly lower than those in the low⁃dose combination group. The levels of IL⁃17,IL⁃6 and IFN⁃γ in both groups after treatment were lower than those before treatment,while the level of IL⁃35 was higher than that before treatment(P < 0.05). In addition to IL⁃35,the levels of other serum factors(IL⁃17,IL⁃6 and IFN⁃γ)in the high⁃dose combination group were sig⁃ nificantly lower than those in the low ⁃ dose combination group. The commonly adverse drug reactions of the two groups were vomiting,nausea,diarrhea and leukopenia,etc. There was no significant difference in the adversedrug reactions between the two groups(P > 0.05). Conclusion Compared with low ⁃ dose tofacitinib combined with methotrexate,high ⁃ dose tofacitinib combined with methotrexate could effectively improve the clinical symp⁃ toms of RA patients,reduce the levels of CRP and ESR,upregulate the level of IL⁃35 whereas downregulate the levels of IL⁃17,IL⁃6 and IFN⁃γ,and it does not increase the occurrence of adverse reactions.

Medical Examination and Clinical Diagnosis

Analysis of ultrasound characteristics of malignant breast non⁃mass⁃like lesions and development of a no⁃ mogram

WU Xiaoxi, JIANG Yanhui, LIU Meiling, XIE Jingwen, CHEN Miao, ZHANG Jianxing.
2023, 39(1):  119-123.  doi:10.3969/j.issn.1006⁃5725.2023.01.021
Abstract ( 239 )  
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Objective The research aimed to analysis risk factors for malignant breast non⁃mass⁃like lesions(NML),and use these factors to construct a nomogram. Methods The clinical data and ultrasound image characteristics of 577 patients with NML were retrospectively analyzed. The risk factors of malignant NML lesions were screened,and the nomogram was constructed. The ROC curve and calibration curve of the model were drawn and the Hosmer⁃Lemeshow test was performed. Results Age,palpable lesions,microcalcification,acoustic shad⁃ owing,architectural distortion,rich blood flow and axillary enlarged node were risk factors for malignant NML lesions. The nomogram based on the above variables had an AUC of 0.869,a sensitivity of 74.5% and a specificity of 86.8%. The calibration curves showed good agreement between the predicted and actual probabilities,with the mean absolute error = 0.007. And the Hosmer ⁃ Lemeshow test showed there was no statistical difference. Conclusion The nomogram based on the clinical data of patients and ultrasound features has high clinical applica⁃ tion value,calibration degree and stability,which can assist sonographers in the diagnosis and risk stratification of NML.

Reviews
Research Progress of new magnetic resonance imaging technology in liver fibrosis 
XU Rui, HE Mingyu, LIU Xinfeng, WANG Rongpin, ZHOU Liming, DENG Feihu, DING Guoheng.
2023, 39(1):  124-128.  doi:10.3969/j.issn.1006⁃5725.2023.01.022
Abstract ( 235 )  
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Hepatic fibrosis is a pathological change based on liver injury and tissue scar repair response.If not timely intervention by drugs,advanced liver fibrosis can turn into liver cirrhosis,liver cancer,etc.However, early diagnosis and timely treatment,liver fibrosis can be cured. Accurate staging and symptomatic treatment can delay the progress of liver fibrosis and have important significance for the prognosis of liver fibrosis. With the devel⁃ opment of imaging technology,magnetic resonance imaging(MRI) are playing an increasingly important role in the diagnosis of liver fibrosis. The application of new techniques of MRI in the diagnosis of liver fibrosis is reviewed.