Table of Content

    28 September 2017, Volume 37 Issue 9 Previous Issue    Next Issue

    For Selected: Toggle Thumbnails
    Case study of the molecular classification and prognostic prediction of gastric cancer based on nonnegative matrix factorization#br#
    CAO Ying-ying, ZHU Xiao-qiang, CHEN Hao-yan
    2017, 37 (9):  1188. 
    doi: 10.3969/j.issn.1674-8115.2017.09.001

    Abstract ( 954 )   PDF (8193KB) ( 1295 )  
    Objective · To explore the molecular classification and prognostic prediction of gastric cancer based on nonnegative matrix factorization (NMF).  Methods · Cases of gastric cancer were acquired from Gene Expression Omnibus (GEO). Expression profiling of lncRNA was performed by using a lncRNA-mining approach. NMF model was built with Consensus Cluster Plus package. The relationship among NMF subgroups and clinical relevance was assessed.  Results · According to the molecular classification based on NMF, samples were divided into three subgroups. Significant difference was observed in relapse state, lymph node ratio, Lauren classification, TNM stage and age of onset among three subgroups. High-risk group was identified with shortest relapse time by survival analysis both in GSE62254 and GSE15459. Multivariate Cox proportional-hazards regression showed that NMF model based molecular classfication could be regarded as an independent risk factor for gastric cancer. Gene set variance analysis (GSVA) and gene set enrichment analysis (GSEA) showed that the high-risk subgroup was enriched in several tumor development pathways.  Conclusion · Based on NMF model, the molecular classification of gastric cancer can be used for treatment decision and prognostic prediction.
    Related Articles | Metrics
    Effectiveness of defecation reconstruction following nerve transfer in rats by PRV retrograde tracing
    ZHU Xiao-zhong, ZHU Hong-yi, BAO Bing-bo, LI Xing-wei, GAO Tao, ZHENG Xian-you
    2017, 37 (9):  1196. 
    doi: 10.3969/j.issn.1674-8115.2017.09.002

    Abstract ( 591 )   PDF (6569KB) ( 918 )  
    Objective · To investigate the effectiveness of nerve transfer in repairing defecation function after spinal cord injury by the pseudorabies virus (PRV) retrograde tracing.  Methods · The spinal cords were transected between L6 and S1 nerve root in 20 rats. The nerve transferring surgery was then conducted in 10 rats (Group B) and the remaining rats were control (Group A). After six months, all rats were injected with 6 μL PRV, sacrificed after 3 d and perfused with paraformaldehyde. Spinal cords were then harvested and frozen sections were prepared for observation.  Results · There was no detectable infection of PRV proximal to the injury level in Group A, while infected neurons proximal to the injury level were widely observed in Group B.  Conclusion · Nerve transfer has potent effect on defecation reconstruction after spinal cord injury in rats. PRV retrograde tracing can prove the existence of new neuron pathway.
    Related Articles | Metrics
    Effect of Roux-en-Y gastric bypass surgery on hepatic glucolipid metabolism in rats with obesity combined with type 2 diabetes mellitus#br#
    FENG Sui-bin, LIU Hai-jun, ZHOU Zhou, WANG Xiao, HU Cheng, ZHANG Xue-li1
    2017, 37 (9):  1201. 
    doi: 10.3969/j.issn.1674-8115.2017.09.003

    Abstract ( 626 )   PDF (7942KB) ( 693 )  
    Objective · To study the effects of Roux-en-Y gastric bypass (RYGB) surgery on hepatic glycolipid metabolism in the rat models with obesity combined with type 2 diabetes mellitus (T2DM) and investigate the molecular mechanisms involved.  Methods · The rats were randomly divided into control group, high-fat diet+DM group, sham-operated group and operated group, ten each. The changes of body weights and food intakes, as well as the results of intraperitoneal glucose tolerance test (IPGTT) and insulin tolerance test (ITT) were monitored. The mRNA and protein expressions of farnesoid X receptor (FXR), fibroblast growth factor 21 (FGF21) and glucose-6-phosphatase (G6Pase) were respectively detected.  Results · The body weights and food intakes were significantly reduced in operated group, as compared to the high-fat diet+DM group and sham-operated group.The areas under the curve of IPGTT and ITT in operated group were reduced. Meanwhile, red lipid droplets of the operated group were obviously less than those of high-fat diet+DM group and sham-operated group by oil red-O staining. Furthermore, the mRNA expressions of FXR and FGF21 in operated group were significantly higher than those of high-fat diet+DM group and sham-operated group, while G6Pase mRNA expression was reduced. The protein levels of FXR and FGF21 were also higher in operated group than in high-fat diet+DM group and sham-operated group, but G6Pase level was decreased.  Conclusion · RYGB could improve the glycolipid metabolism of rats with obesity combined with T2DM by activating FXR-G6Pase pathway.
    Related Articles | Metrics
    Survey on infants aged 12 months in Shanghai Jing'an District by Denver Development Screening Test and analysis of their intellectual development relevant risk factors#br#
    SHI Hui-qing, WANG Hong-bing, CHEN Jin-jin
    2017, 37 (9):  1207. 
    doi: 10.3969/j.issn.1674-8115.2017.09.004

    Abstract ( 656 )   PDF (7282KB) ( 618 )  
     Objective · To investigate the developmental state of infants in early childhood and identify risk factors for their early development in community.  Methods · Cluster sampling was conducted to collect data of infants aged 12 months by Denver Developmental Screening Test (DDST) in Shanghai Jing’an District. Logistic analysis was employed to detect factors influencing the intellectual development of infants.  Results · A total of 4 102 infants were enrolled in the survey. The prevalence for abnormal screening result was 1.0%, while 4.3% for suspicious abnormal result. Logistic analysis revealed that low birth weight (OR=6.24, 95% CI 1.69-22.98, P=0.006), low head circumference (OR=5.22, 95% CI 1.20-22.84, P=0.031), mothers older than 35 years in pregnancy (OR=3.61, 95%CI 1.32-9.84, P=0.012) or history of brain impairment (OR=3.96, 95% CI 1.55-10.10, P=0.003) were the risk factors for abnormal screening result. Spearman rank correlation analysis showed a significant negative relationship between breastfeeding duration and suspicious abnormal screening result (ρ=-0.031, P=0.046).  Conclusion · It is essential to draw attention to early developmental screening and interference, especially to infants with mothers older than 35 years in pregnancy, low birth weight, low head circumference or high-risk infants. Breastfeeding is helpful for decreasing detection rate of abnormal result.
    Related Articles | Metrics
    Association between obesity and chronic kidney disease among a middle-aged and elderly Chinese community population#br#
    WU Xue-yan*, CHENG Di*, MA Li-na, LIN Lin, DU Rui, XU Yu, XU Min, BI Yu-fang, WANG Wei-qing, LU Jie-li
    2017, 37 (9):  1213. 
    doi: 10.3969/j.issn.1674-8115.2017.09.005

    Abstract ( 776 )   PDF (9101KB) ( 966 )  
     Objective · To investigate the relationship between obesity and chronic kidney disease (CKD) in a community-based study among a middle-aged and elderly Chinese population.  Methods · A survey of 10 375 inhabitants aged 40 years or older in Jiading District of Shanghai was performed using cluster sampling. All the subjects were recruited to undergo questionnaire interview, anthropometric measurements, and biochemical measurements. Blood and urine samples were collected to measure biochemical features, including plasma glucose, lipid profiles, liver and renal function, as well as urinary albumin and creatinine. Obesity status was diagnosed according to the World Health Organization (WHO) criteria. According to body mass index (BMI) levels, the subjects were divided into normal weight group (BMI<25 kg/m2), overweight group
     (25 kg/m2 ≤ BMI<30 kg/m2) and obesity group (BMI ≥ 30 kg/m2). The estimated glomerular filtration rate (eGFR) was calculated based on American Chronic Kidney Disease-Epidemiology Collaboration (CKD-EPI) equation. Logistic regression analysis was used to analyze the risk of CKD among people with different BMI levels.  Results · Increased BMI levels were associated with more unfavorable metabolic profiles. After a variety of factors were adjusted, each 1 kg/m2 increment of BMI was associated with a 9% higher risk of prevalent CKD, and the odds ratio (OR) was 1.09 (95% CI:1.07-1.12). Results from multivariate Logistic regression analysis showed that in the total population, compared with individuals in the normal weight group, those in the overweight and obesity groups had 51% (OR=1.51, 95% CI: 1.27-1.78) and 181% (OR=2.81, 95% CI: 2.20-3.61) higher risk of prevalent CKD.  Conclusion · In the middle-aged and elderly community population in China, overweight and obesity are associated with an increased risk of prevalent CKD.
    Related Articles | Metrics
    Indicating value of lower extremity atherosclerotic disease ultrasound screening for cardiovascular diseases in type 2 diabetes patients#br#
    HUA Xiao-han, LIU Ying-feng, ZENG Hui, ZHAO Jun-gong, ZHAO Jun, LIU Fang, JIA Wei-ping
    2017, 37 (9):  1220. 
    doi: 10.3969/j.issn.1674-8115.2017.09.006

    Abstract ( 793 )   PDF (9490KB) ( 664 )  
    Objective · To verify the indicating value of the simple screening of lower extremity atherosclerosis artery disease (LEAD) by lower extremity arterial ultrasound examination for coronary atherosclerotic heart disease (CAD) in patients with type 2 diabetes.  Methods · A total of 606 type 2 diabetes patients were enrolled. Their clinical data and biochemical parameters (hepatorenal function, glycometabolism, tumor markers) were collected. All patients were undertaken lower extremity vascular ultrasound and CT angiography (CTA) scan for coronary artery disease. According to the results of lower extremity ultrasound, patients were divided into two groups, patients with LEAD group (n=318) and patients without LEAD group (n=288). According to the history of coronary CTA or percutaneous coronary intervention (PCI) or percutaneous transluminal coronary angioplasty (PTCA), the patients were divided into CAD group (n=280) and non-combined CAD group (n=326). The prevalence of CAD in different LEAD groups was compared and their relationship was analyzed.  Results · The degree of LEAD was proportional to the prevalence of CAD. Both of the prevalences of CAD in group with arterial stenosis >50% (81%) and group with plaque and stenosis<50% (63%) were significantly higher than that in group without plaque (29%) (P=0.021, P=0.015, respectively). Spearman analysis found that age, sex, duration of diabetes, systolic blood pressure, total cholesterol, LEAD, femoral artery intima-media thickness were positively correlated with CAD. However, high density lipoprotein cholesterol and glomerular filtration rate were negatively associated with CAD. Logistic regression analysis revealed that duration of diabetes, existence of LEAD were independent associated factors of CAD. After adjusting the confounding factors, odds ratio risk analysis showed the risk increased 4.818 times in patients with LEAD (OR=5.818, 95% CI 2.62712.888, P=0.000).  Conclusion · The evaluation of LEAD by ultrasound has an indicating value for CAD in type 2 diabetes patients.
    Related Articles | Metrics
    Clinical trial of serum miR-499 and miR-652 for early diagnosis of acute coronary syndrome#br#
    CAO Hui-min, YOU Sha-sha, XUE Yu-chen, HE Bin
    2017, 37 (9):  1226. 
    doi: 10.3969/j.issn.1674-8115.2017.09.007

    Abstract ( 712 )   PDF (7938KB) ( 771 )  
    Objective · To investigate the potential value of serum miRNAs for early diagnosis of acute coronary syndrome (ACS).  Methods · Blood samples were collected from 28 emergency patients with suspected ACS in 3 h after enrollment. Eighteen patients were finally diagnosed as ACS and ten as nonACS according to the ACS guideline. The expression levels of cardiac miR-499 and myocardial injury related miR-652 were measured with qRT-PCR. At the same time levels of troponin I (cTnI) were monitored. Then the correlations between miRNAs and cTnI were analyzed. In addition, 95% reference range was established.  Results · The expression levels of serum miRNAs increased in ACS patients within 3 h and serum miR-499 in the ACS patients was 9.2 times the amount in the non-ACS patients (P=0.009). Serum miR-499 (r=0.595, P=0.001) and miR-652 (r=0.579, P=0.001) levels both had positive correlations with cTnI. The area under the ROC curve (AUC) of serum miR-499 and miR-652 was 0.786 and 0.583, respectively. The sensitivity and specificity of miR-499 were 72.22% and 80.00%, respectively, while 72.22% and 60.00% for miR-652. The reference ranges of serum miR-499 and miR-652 were 0.001-2.723 and 0.122-9.660, respectively.  Conclusion · Cardiac miR-499 in serum has potential to be a biomarker for early diagnosis of ACS.
    Related Articles | Metrics
    Association between mid-upper arm circumference and non-alcoholic fatty liver disease or insulin resistance in middle-aged and elderly Chinese community population#br#
    HOU Ya-nan, XUAN Li-ping, PENG Kui, DU Rui, XU Yu, CHEN Yu-hong, LU Jie-li, BI Yu-fang, XU Min, WANG Wei-qing, NING Guang
    2017, 37 (9):  1232. 
    doi: 10.3969/j.issn.1674-8115.2017.09.008?

    Abstract ( 497 )   PDF (10327KB) ( 770 )  
    Objective · To investigate the association between mid-upper arm circumference (MUAC) and non-alcoholic fatty liver disease (NAFLD) or insulin resistance in middle-aged and elderly Chinese community population.  Methods · A cross-sectional study was conducted in 6 570 residents aged 40 years or older in Jiading District of Shanghai in 2014. All participants received standard questionnaire, anthropometric measurements, biochemical evaluation and ultrasonic examination. NAFLD was defined by hepatic ultrasonography, after excluding subjects with excess alcohol consumption and medical history of liver diseases. Participants were divided into 4 groups according to the quartiles of MUAC, then association between MUAC and NAFLD or insulin resistance was analyzed.   Results · With the increase of MUAC level, body mass index (BMI), waist circumference, systolic blood pressure, diastolic blood pressure, triacylglycerol, fasting insulin, HOMA-IR levels, low-density lipoprotein-cholesterol, alanine aminotransferase, γ-glutamyl transpeptidase, and aspartic transaminase levels were increased significantly (all P<0.01), as well as the prevalence of NAFLD, hypertension, dyslipidemia, and insulin resistance (all P<0.01). A fully adjusted multivariate Logistic regression analysis revealed that with the increase of MUAC level, the risk of having NAFLD and insulin resistance were increased among women. However, among men, there was no correlation between MUAC and NAFLD or insulin resistance.  Conclusion · MUAC is significantly associated with NAFLD and insulin resistance in middle-aged and elderly female Chinese community population.
    Related Articles | Metrics
    Application of CT/MRI image registration and fusion combined with 3D printing technique in pre-surgical planning of refractory pelvic tumors#br#
    QU Yang, AI Song-tao, YANG Fei, ZHANG Heng-hui, WANG Yi-ping, TAO Xiao-feng, HAO Yong-qiang, DAI Ke-rong
    2017, 37 (9):  1239. 
    doi: 10.3969/j.issn.1674-8115.2017.09.009

    Abstract ( 819 )   PDF (9466KB) ( 1285 )  
    Objective · To explore the value of applying CT/MRI image registration and fusion combined with 3D printing technique in pre-surgical planning of refractory pelvic tumors.  Methods · A retrospective analysis was performed on the cases with refractory pelvic tumors admitted between March 2014 and December 2016 in Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine. CT/MRI examinations were performed as a routine pre-surgical procedure, and the resulting images were subject to rapid registration and fusion with the Medraw software in order to accurately determine the tumor boundaries and to be used as references in designing and making patient-specific tumor models, prostheses, and implants by 3D printing technique.  Results · A total of 13 cases with refractory pelvic tumors were included in this study (8 cases of chondrosarcoma, 1 case of osteosarcoma with aneurysmal bone cyst, 1 case of dedifferentiated sarcoma, 1 case of fibrous connective tissue hyperplasia, 1 case of solitary fibrous tumor/hemangiopericytoma, and 1 case of metastatic squamous cell carcinoma) with an average age of (50.0±8.5) years. According to the Enneking classification,there were 2 cases in zone Ⅰ , 2 in zones Ⅰ + Ⅱ , 1 in zones Ⅱ + Ⅲ , 3 in zones Ⅰ + Ⅱ + Ⅲ , 1 in zones Ⅰ + Ⅱ + Ⅳ , 1 in zones Ⅰ+Ⅱ+Ⅲ+Ⅳ, 1 in zones Ⅰ+Ⅳ, 1 in zones Ⅱ+Ⅳ, and 1 in zone Ⅳ . The mean maximal tumor diameter was (15.15±4.81) cm without implicating the pelvic blood vessels. Results from intraoperative frozen section at resection boundaries and the installation of prosthesis showed that the actual surgical procedure was consistent with the surgical planning based on the reported image fusion technique.  Conclusion · CT/MRI image registration and fusion technique combined with 3D printing technique can accurately determine the resection boundary of pelvic tumors and assist in designing of individualized prosthesis model and surgical guide, which has a great value in pre-surgical planning and clinical treatment of refractory pelvic tumors.
    Related Articles | Metrics
    Relationship between radiographic parameters for postoperative wrist joint stability and the prognosis of patients with giant cell tumor of distal radius#br#
    ZANG Shi-zhao, ZHANG Wei-bin, SHEN Yu-hui
    2017, 37 (9):  1246. 
    doi: 10.3969/j.issn.1674-8115.2017.09.010

    Abstract ( 722 )   PDF (9559KB) ( 665 )  
    Objective · To analyze whether the radiographic parameters for wrist joint stability and some clinical features are associated with the prognosis of Campanacci grade 3 distal radial giant cell tumor of bone.  Methods · Clinical and radiological data of 15 patients with giant cell tumors of distal radius who were treated with wide en bloc excision with fibular autograft and internal fixation from August 2003 to July 2016 were retrospectively reviewed. The relationship between clinical features (including age, tumor size, pathological fracture, articular invasion, primary or recurrent), radiographic parameters for wrist joint stability and the prognosis was investigated statistically.  Results · There was only 1 patient lost at last follow-up. The average duration of follow-up was 62.3 ±43.3 months. The MSTS score was 21.6±2.0 before surgery and 23.1±2.2 after surgery with recovered function, although the difference was not significant statistically (P=0.106). The pain score (MSTS) improved significantly with 2.9±0.7 before and 4.1±0.5 after operation (P=0.000). The function score (MSTS) was 3.0±0.7 preoperatively and 3.7±0.7 postoperatively (P=0.012). The postoperative ranges of motion and grip strength compared to contralateral extremity were (63.4±12.6) % and (68.5±10.8)% respectively. Complications occurred in 5 patients (35.7%), with 1 infection, 3 non-union and 1 subluxation. No patient suffered from dysfunction of common peroneal nerve. The fibuloulnar angle after K wire removed was significantly larger in good MSTS group (8.8?±5.6?) than in excellent MSTS group (2.2?±2.4?) (P=0.018). The interval of distal fibuloulnar joint before and after K wire removed was significantly different (P=0.003). The Pearson correlation analysis suggested the time of bone union was positively correlated with fibular inclination (r=0.60, P=0.022).  Conclusion · The radiographic parameters for wrist joint stability are associated with the patients' prognosis after wide en bloc excision and fibular autograft, which may guide the fibular reconstruction.
    Related Articles | Metrics
    Analysis on associated factors of elderly patients’ stay in emergency department of a hospital in Shanghai#br#
    SHI Sheng-yi, HU Lan, YAN Han-ting, LU Yi-ming, YE Jing
    2017, 37 (9):  1254. 
    doi: 10.3969/j.issn.1674-8115.2017.09.011

    Abstract ( 859 )   PDF (7560KB) ( 621 )  
    Objective · To investigate the effect of population aging on health condition of Emergency Department (ED) visitors, the disease constitution of ED, the pressure of emergency treatment and the emergency department length of stay (EDLOS).  Methods · Patient data from ED of a tertiary hospital in Shanghai from Jan. 2014 to Dec. 2016 were collected and retrospectively analyzed, including gender, age, arrival time, diagnosis, EDLOS, outcome, chronic disease, infection or tumor, etc. Statistics was used to determine possible factors associated with prolonged EDLOS.  Results · A total of 15 429 cases were selected. The number of the elderly patients ( ≥ 65 years old) was 8 480 (54.96%). The elderly patients’ EDLOS was significantly longer than patients younger than 65 years (P=0.000). The incidence of chronic aging diseases was significantly higher in elderly patients (67%) than in who were below 65 years old (52%). Tumor and infection were independent risk factors for EDLOS (P=0.000). The proportion of elderly patients with acute onset and unknown diseases was only 14%.  Conclusion · The increasing proportion of elderly patients in ED is the main reason leading to the pressure of emergency treatment. The elderly patients who had chronic diseases prolong the EDLOS and cost the most medical resources of emergency treatment. So the gerontology should be rapidly expanding. Meanwhile, the complex chronic aging diseases, acute onset of chronic disease and varying severity of disease in the elderly patients should be treated by the new stepping mode “Family- Hospitalization-Emergency”. [
    Related Articles | Metrics
    Effects of ACE2/Apelin signaling on vascular autophagy regulation and  hypertension pathogenesis#br#
    ZHANG Yan, CHENG Yu-wen, ZHONG Jiu-chang
    2017, 37 (9):  1261. 
    doi: 10.3969/j.issn.1674-8115.2017.09.012

    Abstract ( 666 )   PDF (7758KB) ( 586 )  
     Autophagy provides protective effects on the maintenance of normal vascular structure and function. However, an overactivation of autophagy contributes to the pathogenesis of hypertension and other vascular diseases. The imbalance of vascular autophagy is involved in the occurrence and development of hypertensive vascular remodeling and injury, which is closely related to abnormal expression or activity of ACE2/Apelin signaling. This review will focus on the latest advancement and regulatory roles of ACE2/Apelin signaling in vascular autophagy and the pathogenesis of hypertension.
    Related Articles | Metrics
    Research progress of correlation between interleukin-17 and schizophrenia#br#
    FANG Xin-yu, ZHANG Chen
    2017, 37 (9):  1266. 
    doi: 10.3969/j.issn.1674-8115.2017.09.013

    Abstract ( 767 )   PDF (7518KB) ( 610 )  
    Schizophrenia is a severe, recurrent mental disorder with a poor prognosis and brings a great burden to patients' family and society. However, its etiology and pathogenesis have not been fully elucidated. Previous studies have implicated abnormalities of the immune system in schizophrenia. Besides, it has also been shown that there does exist a significant association between schizophrenia and interleukins, a kind of cytokine as an important component of the immune system. The present review aims to provide an updated overview of the relevance between interleukin-17 and schizophrenia.
    Related Articles | Metrics
    Effect of autophagy on epithelia-mesenchymal transition
    LI Bo-ning, LAI Dong-mei
    2017, 37 (9):  1271. 
    doi: 10.3969/j.issn.1674-8115.2017.09.014?

    Abstract ( 547 )   PDF (8117KB) ( 567 )  
     Autophagy is a self-renewing cellular process by which defective proteins and aged organs are eliminated. It is noteworthy that autophagy correlates with the initiation and progression of cancer. During epithelial-mesenchymal transition (EMT), cells with epithelial phenotype gain mesenchymal characteristics, thus facilitate invasion and metastasis. Autophagy may suppress EMT by the following mechanisms, such as decreasing hypoxia inducible factor-1 (HIF-1) in hypoxia to downregulate transcription of EMT related genes, regulating TGF-β/Smad signaling pathway negatively, utilizing selective autophagy adaptor, p62, to modulate EMT transcription factors. Further studies of the association between autophagy and EMT may contribute to indentify new targets of cancer therapy.
    Related Articles | Metrics
    Role of DNA methyltransferase 3A in hematological malignancies#br#
    SHI Xiao-dong, DAI Yu-jun, WANG Yue-ying
    2017, 37 (9):  1276. 
    doi: 10.3969/j.issn.1674-8115.2017.09.015

    Abstract ( 877 )   PDF (9445KB) ( 782 )  
    DNA methyltransferase 3A (DNMT3A) is one of the critical epigenetic modifiers responsible for de novo DNA methylation. DNMT3A mutations are identified in some kinds of hematological malignancies, especially in acute myeloid leukemia (AML) with high frequency, indicating poor prognosis. Recent researches have shown that abnormalities of epigenetic related genes such as DNMT3A play important roles in the development and progression of hematological malignancies, which was named as class Ⅲ mutation associated with the pathogenesis of AML. In this review, the progresses of clinical and basic researches about DNMT3A mutation in hematological malignancies were summarized.
    Related Articles | Metrics
    Progress of pathogenesis of hereditary spastic paraplegia type 4#br#
    ZHAN Fei-xia, CAO Li
    2017, 37 (9):  1282. 
    doi: 10.3969/j.issn.1674-8115.2017.09.016

    Abstract ( 1207 )   PDF (7286KB) ( 580 )  
    Hereditary spastic paraplegia (HSP) is a group of significantly clinically and genetically heterogeneous neurodegenerative disorders, which are predominantly characterized by progressive lower limbs weakness and spasticity, and spastic paraplegia type 4 (SPG4) is the most common type among them. So far, mutations in 78 distinct loci and 59 mutated genes have been identified in patients with HSP. The protein spastin coded by the SPAST gene plays a critical role in regulating length, number and activity of microtubules, as well as the occurrence and development of various organelles. It is generally believed that the mutated spastin leads to partial or total loss of the function, which is the main pathogenetic mechanism. While recent studies have also suggested that there may exist acquired neurotoxic effects of mutant proteins by the two isoforms (M1, M87) coded by the SPAST gene, which is also one of the critical mechanisms. In this paper, the pathogenesis of SPG4 was reviewed.
    Related Articles | Metrics
    Progress in genetics of autoimmune hepatitis#br#
    WEI Yi-ran, MA Xiong, TANG Ru-qi
    2017, 37 (9):  1287. 
    doi: 10.3969/j.issn.1674-8115.2017.09.017?

    Abstract ( 720 )   PDF (7692KB) ( 652 )  
    Autoimmune hepatitis (AIH) is an autoimmune liver disorder characterized by chronic inflammation of liver. Although the etiology of AIH remains obscure, genetic and environmental factors may contribute to the development of AIH. In the past years, investigators have attempted to uncover the genetic architecture of AIH. Multiple genetic loci have been reported to be associated with AIH, in which human leukocyte antigen (HLA) alleles were strongly associated with disease onset and clinical manifestations for decades. A recent genome wide association study identified that two loci (SH2B3 and CARD10) increased susceptibility of AIH, in addition to the HLA loci. The genetic study is aiming to help to elucidate the genetic pathogenesis
     for AIH.
    Related Articles | Metrics
    Application and development of genetic knockout animal models in researches of obsessive-compulsive disorder#br#
    WANG Pei, XU Ting-ting, ZHAO Qing, WANG Zhen
    2017, 37 (9):  1292. 
    doi: 10.3969/j.issn.1674-8115.2017.09.018

    Abstract ( 677 )   PDF (7887KB) ( 556 )  
    Recently, some progress has been made in the clinical study of obsessive compulsive disorder (OCD). Human research has inherent limitation because of its non-invasive nature, while animal models can break through the shortcomings of human research, allowing us to more accurately study the pathophysiology of OCD. Therefore, many researchers tried to use genetic knockout animal models to further study the etiology of OCD. In this review, recent progress about this kind of research was reviewed. [
    Related Articles | Metrics
    Function and application of soluble vascular endothelial growth factor receptor-1 in age-related macular degeneration#br#
    XIAO Mei-chun, WANG Xiao-han, WANG Feng-hua
    2017, 37 (9):  1297. 
    doi: 10.3969/j.issn.1674-8115.2017.09.019?

    Abstract ( 498 )   PDF (10834KB) ( 703 )  
    Age-related macular degeneration (AMD) is the leading cause of blindness in people over 50 years old. Vascular endothelial growth factor (VEGF) plays a critical role in the development of wet AMD. At present, the main treatment is monoclonal antibodies against VEGF, but the maintenance time is short, and it requires frequent and repeated treatment. Recently with the fast development of gene therapy, soluble VEGF receptor -1 (sFlt-1), which may act as one of the biomarkers of AMD, is gaining more attention. sFlt-1 is the unique endogenous VEGF inhibitor. With the development of AMD, serum sFlt-1 decreases markedly. This article reviewed the molecular structure and pathophysiological function of sFlt-1, its role in the advance of AMD, and the preclinical studies as well as clinical studies about it.
    Related Articles | Metrics
    Developments in reconstruction of severe face and neck disfigurement#br#
    HUANG Xin, ZAN Tao
    2017, 37 (9):  1304. 
    doi: 10.3969/j.issn.1674-8115.2017.09.020

    Abstract ( 596 )   PDF (8495KB) ( 723 )  
    Severe defects and deformities of face and neck normally arise from burns, tumor extirpation and trauma. They had long been a major therapeutic challenge in the realm of plastic and reconstructive surgery on account of massive involvement of skin and soft tissues, combined composite tissue injuries, high demands on aesthetic and functional outcomes, and scarce suitable reconstructive materials. After an extensive review of literature published recently, this article delineated up-to-date developments in autologous reconstruction and face allotransplantation, especially their indications and limitations in treating these patients. Meanwhile, an outlook on opportunities and challenges of these two treatment modalities was given.
    Related Articles | Metrics
    Mechanisms of probiotics to improve type 2 diabetes mellitus#br#
    LI Xue-lin, GU Yan-yun, ZHANG Yi-fei
    2017, 37 (9):  1309. 
    doi: 10.3969/j.issn.1674-8115.2017.09.021

    Abstract ( 902 )   PDF (12606KB) ( 771 )  
    There are tens of thousands of microbiota in the intestine, and the balance of these microbiota is essential to maintain intestinal stability and body metabolism. Once the intestinal flora structure is disordered, a variety of metabolic diseases will follow. In recent years, the international scientific researches focus on the relationship between intestinal flora and metabolic diseases, especially type 2 diabetes mellitus (T2DM). And the probiotics, as a kind of active microorganism that regulate the micro-ecological balance of the host's gut, can change the intestinal flora and their metabolites, and thus improve the host energy metabolism and reduce low level chronic inflammation and oxidative stress. Therefore, its intake has gradually become an usual method of preventing and controlling T2DM. This review provides an overview of the effects of probiotics on host intestinal flora and the mechanisms of improving T2DM, as well as a theoretical reference for the clinical application of probiotics.
    Related Articles | Metrics