Table of Content

    28 November 2017, Volume 37 Issue 11 Previous Issue    Next Issue

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    Exploration on the construction of discipline of clinical medicine and clinical talent team: a case study of the construction of “Two-hundred Talent” team#br#
    CHENG Sha-ni, ZHU Li-jun, FENG Hao, YUAN Su-wei, ZHU Jian-zheng
    2017, 37 (11):  1453. 
    doi: 10.3969/j.issn.1674-8115.2017.11.001

    Abstract ( 1703 )   PDF (6216KB) ( 1749 )  
    Currently, exploring the “World-class” disciplinary construction is a vital strategy in China. Since 2015, Shanghai Jiao Tong University School of Medicine started the project of establishing two distinguish teams—the academic clinicians and clinical investigators (“Two-hundred Talent” team), to fuel the development of clinical research. After two years of practice, both advantages and bottlenecks were found. The advantage contains: increasing selection rate among talent projects, increasing influential output, elevating capacity in clinical research. The bottlenecks contain: unbalanced disciplinary development, poor awareness of the importance of clinical research, lack of relevant supporting policies. In order to improve the quality of the clinical research and the two talent clinical research teams, institutional innovation, personalized supporting system, establishment of clinical research center, training of clinical research nurses are essential.
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    Bilirubin-induced calcium overload in synaptosomes isolated from brainstem neurons of rats#br#
    LI Dan-ping, LAI Ke, WANG Ji-ping, SHI Hai-bo
    2017, 37 (11):  1459. 
    doi: 10.3969/j.issn.1674-8115.2017.11.002

    Abstract ( 1349 )   PDF (7386KB) ( 1034 )  
    Objective · To observe real-time changes of calcium concentration ([Ca2+]i) exposure to bilirubin in synaptosomes isolated from brainstem nucleus of rats.  Methods · Forty P7-14 SD rats were randomly assigned to three groups: control group, bilirubin group (with levels of 0.1, 1 and 10 μmol/L) and bulirubin plus glycoursodeoxycholic acid (GUDCA) group. The synaptosomes were purified from brainstem nucleus by sucrose density gradient centrifugation. After loading OG-BAPTA in synaptosomes, two dimensional image of intracellular calcium and analysis of fluorescence intensity were achieved by Confocal laser scanning microscopy.  Results · Synaptosomes with well biological activity were obtained from brainstem of the SD rats. In the control group, a progressive increase in fluorescent intensity of [Ca2+]i was detected. In the bilirubin group, acuter increases in fluorescent intensity were observed in all levels of bilirubin, with a manner of both concentration and time-dependent (P<0.05). Fluorescent intensity of [Ca2+]i was reduced  in the present of GUDCA, which was not significant compared with the control group (P=0.656). However, GUDCA could abate the increase of fluorescent intensity of [Ca2+]i induced by bilirubin exposure, of which showing significant decrease in 10 μmol/L bilirubin exposure (P=0.000).  Conclusion · Bilirubin could induce calcium overload in synaptosomes. GUDCA could abate bilirubin-induced calcium overload in synaptosomes, possibly explaining its protection effect of neurons from bilirubin neurotoxicity.
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    Study of a nanovaccine targeting cholesteryl ester transfer protein against atherosclerosis
    YOU Sha-sha, LI Yong-yong, DONG Hai-qin, HE Bin
    2017, 37 (11):  1464. 
    doi: 10.3969/j.issn.1674-8115.2017.11.003

    Abstract ( 1174 )   PDF (7701KB) ( 843 )  
    Objective · To prepare nanocarriers capable of improving the immunogenicity of cholesteryl ester transfer protein (CETP) hapten.  Methods · Prepare CETP polypeptide modified by thiol in Fmoc, then Sulfo-SMCC were used to prepare CETP peptide-ovalbumin (OVA) nanoparticle and CETP peptide - OVA molecule conjugates in a two-step reaction scheme. The particle size and zeta potential of nanovaccine were determined and the morphology was observed. New Zealand White rabbits were vaccinated by subcutaneous injection of vaccine and serum collected from rabbits was detected by ELISA assay for the analysis of antibodies, high density lipoprotein cholesterol(HDL-C) and low density lipoprotein cholesterol (LDL-C). The rabbits were randomly allocated to the PBS group (n=3), traditional vaccine group (n=3), and nanovaccine group (n=3).  Results · Nanovaccine targeting CETP were successfully synthesized, with about 70 nm in size and about -8.81 mV in zeta potential, and possessed homogeneous spherical shape under transmission electron microscopy. Compared with traditional vaccine group, rabbits in nanovaccine group got higher antibodies.  Conclusion · Nanovaccine improve immunogenicity of CETP haptens, and stimulate experiment rabbits to produce higher antibodies.
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    T1ρ magnetic resonance imaging for liver fibrosis detection and staging
    LI Ruo-kun, QIANG Hu-ming, YAN Fu-hua, REN Xin-ping, WANG Tao, CHEN Wei-bo
    2017, 37 (11):  1470. 
    doi: 10.3969/j.issn.1674-8115.2017.11.004

    Abstract ( 1267 )   PDF (8322KB) ( 1027 )  
    Objective · To investigate the value of three-dimensional spin-lattice relaxation (T1ρ) magnetic resonance imaging (MRI) for liver fibrosis detection and staging and compare with two-dimentional real-time shear wave elastography (SWE).  Methods · Twenty-nine rabbit models of CCl4-induced liver fibrosis were established and six untreated rabbits served as controls. T1ρ MRI and two-dimentional real-time SWE examinations were performed at 2, 4, 6, 8, 10 and 12 weeks, respectively. T1ρ values and liver stiffness (LS) values were measured. Fibrosis was staged according to the METAVIR scoring system. Correlation test was performed among T1ρ values, LS values and fibrosis staging. Receiver operating characteristic (ROC) curve analysis was performed to compare the diagnostic performance of T1ρ and SWE in detection of fibrosis.  Results · There was a moderate positive correlation between fibrosis staging and T1ρ values (r=0.566, P=0.000), and a significantly positive correlation between fibrosis staging and LS values (r=0.726, P=0.003). Areas under ROC were 0.861 for SWE and 0.856 for T1ρ (P=0.940), 0.906 for SWE and 0.849 for T1ρ (P=0.414), 0.870 for SWE and 0.799 for T1ρ (P=0.422), and 0.846 for SWE and 0.692 for T1ρ (P=0.137), when diagnosing liver fibrosis with ≥ F1, ≥ F2, ≥ F3 and F4 stage, respectively. 
     Conclusion · T1ρ imaging has potential for liver fibrosis detection and staging with good diagnostic capability similar to that of SWE.
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    Mutation analysis of NPHS2 in Chinese Han adult-onset focal segmental glomerulosclerosis#br#
    LIU Yun-zi*, ZHOU Qiong-xiu*, REN Hong, PAN Xiao-xia, SHEN Ping-yan, WANG Wei-ming, ZHANG Wen, XIE Jing-yuan#, CHEN Nan#
    2017, 37 (11):  1477. 
    doi: 10.3969/j.issn.1674-8115.2017.11.005

    Abstract ( 1359 )   PDF (8516KB) ( 994 )  
    Objective · To screen NPHS2 mutations in adult focal segmental glomerulosclerosis(FSGS) patients based on a large Chinese FSGS cohort.  Methods · All patients were biopsy determined FSGS by the Department of Nephrology at Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine. FSGS secondary to systemic disease and other hereditary kidney disease were excluded. After extraction of genomic DNA of peripheral blood, NPHS2 was screened by directly sequencing the exon/intron junction or high-throughput sequencing, including whole exon sequencing and Panel sequencing, and then verified by Sanger sequencing. One hundred  healthy controls were enrolled to validate candidate mutations.  Results · Two hundred and four FSGS patients were enrolled,including 52 familial(25.5%) and 152 sporadic patients(74.5%),of which steroid-resistant FSGS patients accounted for 30.3%(46/152). By sequencing NPHS2 in all patients of the cohort (Sanger sequencing in 61 patients and high-throughput sequencing in 143 patients), 2 novel conserved mutations were identified, one homozygous mutation in sporadic steroid-resistant FSGS, p.N199I and one heterozygous mutation in familial FSGS, p.L321fx346. Both of them were not detected in 100 healthy controls. These two variants were predicted to be damaging by Polyphen, SIFT and Mutation Taster. Totally, the mutation rate of NPHS2 in the FSGS cohort was 1%.  Conclusion · Since the overall frequency of NPHS2 mutations is considerably low in Chinese adult-onset FSGS, NPHS2 is not the main disease-causing gene of this group of people.
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    Efficacy and prognostic factors of abiraterone combined with prednisone treating metastatic castration- resistant prostate cancer patients#br#
    FAN Lian-cheng*, DONG Bai-jun*, CHI Chen-fei, PAN Jia-hua, WANG Yan-qing, SHAO Xiao-guang, XU Fan, SHANGGUAN Xun, ZHOU Li-xin#, XUE Wei#
    2017, 37 (11):  1483. 
    doi: 10.3969/j.issn.1674-8115.2017.11.006

    Abstract ( 1397 )   PDF (9106KB) ( 1212 )  
    Objective · To assess the efficacy of abiraterone acetate (AA) plus prednisone treating metastatic castration-resistant prostate cancer (mCRPC) patients and analyze the prognostic factors for this treatment.  Methods · The medical history of 112 patients with mCRPC treated in Renji Hospital affiliated to Shanghai Jiao Tong University School of Medicine, including 70 patients in the chemotherapy-naive setting and 42 in the post-chemotherapy setting, were retrospectively reviewed. Coprimary end points were prostate specific antigen progression-free survival (PSA PFS), radiographic PFS (rPFS) and overall survival (OS). Univariable and multivariable Cox analyses were performed to determine prognostic factors that were associated with PSA PFS, rPFS and OS.  Results · At a median follow-up of 20.2 months, 59 (52.7%) patients had died. The median PSA PFS, rPFS and OS were 8.9 (7.8 ~ 10.0) months, 9.7 (9.0 ~ 10.4) months, and 22.2 (20.3 ~ 24.1) months, respectively. In multivariate analysis, previous chemotherapy, neutrophil lymphocyte ratio ( ≥ 3 vs<3), serum lactate dehydrogenase level ( ≥ 196 U/L vs<196 U/L) and ECOG PS ( ≤ 1 vs 2) were independent predictors for PSA PFS and rPFS, and previous chemotherapy, ECOG PS ( ≤ 1 vs 2) remained significant predictors for OS.  Conclusion · These results further support the favourable profile of AA plus prednisone in patients with mCRPC in China. Previous chemotherapy, ECOG PS ( ≤ 1 vs 2) remained significant predictors for OS.
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    Technique and clinical outcome of catheter ablation guided by remote magnetic navigation for ventricular arrhythmias originating from outflow tract#br#
    QIU Xiao-wei, JIN Qi, ZHANG Ning, LIN Chang-jian, LUO Qing-zhi, LIU Ao, XING Chao-fan, YE Jia-wen, LING Tian-you, CHEN Kang, PAN Wen-qi, ZHAO Jian-rong, WU Li-qun
    2017, 37 (11):  1490. 
    doi: 10.3969/j.issn.1674-8115.2017.11.007

    Abstract ( 1691 )   PDF (8902KB) ( 1038 )  
    Objective · To assess the clinical outcome of catheter ablation guided by remote magnetic navigation(RMN)  for ventricular arrhythmias (VAs) including ventricular tachycardia (VT) and ventricular premature complex (PVC) originating from ouflow tract (OT).  Methods · A total of 42 patients with idiopathic VT/PVC originated from outflow tract were enrolled. All the patients underwent catheter ablation guided by RMN and 3D Carto mapping system. OT-VAs were divided into two groups:right ventricular outflow tract(RVOT) group and left ventricular outflow tract(LVOT) group. VAs arising from LVOT were mapped and ablated by transaortic retrograde and/or transseptal puncture approaches. The primary study endpoint was acute success rate. The secondary study endpoints were procedure-related parameters, including operator X ray time, ablation time, procedure time and complications. VAs recurrence was detected by Holter electrocardiograph (ECG) which was followed-up at 3 months, 6 months and 1 year after ablation.  Results · 74% (31/42) VAs arised from RVOT. 93% (39/42) OT-VAs were achieved acute success. The acute success rate was not different between VAs from RVOT and LVOT (30/31 vs 9/11, P=0.160). Compared to LVOT group, the ablation time and fluoroscopic time of RVOT group were significantly reduced s by 31% (P=0.020) and by 33% (P=0.004). There was no major complication in two groups. Within the 11 cases of LVOT-VAs, 4 LVOT-VAs cases which were ablated by tansaortic retrograde with failure were transferred to transseptal approach and ablated successfully.  At one-year follow-up, frequent PVCs recurred in 2 out of 39 patients with acute success.  Conclusion · Catheter ablation using RMN for OT-VAs is safe and effective with relatively short operator’s X-ray time. For LVOT-VAs, mapping and ablation guided by RMN through transseptal approach can improve the acute success rate.
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    Application of improved ultrasound biomicroscopy in the clinical diagnosis of moderate and severe symblepharon in patients with thermal and chemical ocular surface burns#br#
    CHEN Liang-bo, HE Fang-lin, YAN Chen-xi, LU Lin-na, FAN Xian-qun, FU Yao
    2017, 37 (11):  1496. 
    doi: 10.3969/j.issn.1674-8115.2017.11.008

    Abstract ( 1120 )   PDF (6680KB) ( 1186 )  
     Objective · To investigate the value of technique of improved ultrasound biomicroscopy (UBM) in the clinical diagnosis of moderate and severe symblepharon after thermal and chemical ocular surface burns.  Methods · The clinical data of 33 patients (33 eyes) who had suffered moderate and severe symblepharon after thermal and chemical ocular surface burns were retrospectively analyzed. Improved UBM was applied in the examination of the anterior segment injury, through which the cornea, anterior chamber, iris, anterior chamber angle, ciliary body and lens were analyzed carefully. Also the connection between severity of symblepharon and anterior segment injury was discussed.  Results · All the 33 eyes were examined by the UBM. Corneal opacity of more than 1/2 depth of the corneal was detected in 29 eyes, and detachment of the corneal elastic layer in 1 eye, corneal interstitial fluid in 4 eyes, corneal thinning in 2 eyes, anterior synechia of iris in 6 eyes, posterior synechia of iris in 2 eyes, shallower anterior chamber in 2 eyes, exudate in the anterior chamber in 1 eye, narrow anterior chamber angle in 6 eyes, high echo of lens in 6 eyes. The anterior segment injury in severe symblepharon eyes was worse than that in moderate symblepharon eyes.  Conclusion · UBM is a noninvasive diagnostic technique, which can be used in the meticulous detection of the anterior segment of moderate and severe symblepharon patients after a slight improvement of inspection methods. It can show the pathological changes that cannot be revealed by routine ophthalmologic examination, and provide guidance for estimating the severity of the disease, the choice of surgical plan and prognosis of patients.
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    Low triiodothyronine syndrome can predict poor prognosis in peritoneal dialysis patients#br#
    MIN Dan-yan, LU Xiao-rong, LI Zhen-yuan, YAN Hao, ZHANG Min-Fang, WANG Qin, YUAN Jiang-zi, NI Zhao-hui, FANG Wei
    2017, 37 (11):  1501. 
    doi: 10.3969/j.issn.1674-8115.2017.11.009

    Abstract ( 1409 )   PDF (8198KB) ( 1238 )  
     Objective · To investigate the prevalence of low triiodothyronine syndrome (LT3S) in peritoneal dialysis (PD) patients and to evaluate the predictive value of long-term prognosis.  Methods · From Jan. 2009 to Dec. 2015, all patients who started PD for 3 months were enrolled. According to thyroid hormone levels, there were classified into LT3S group (218 cases) and normal T3 group (259 cases). The association between FT3 and mortality in PD patients was estimated using Cox risk regression model.  Results · Compared to the patients in normal T3 group, patients with LT3S had lower hemoglobin [(97.90±23.71)g/L vs (105.54±22.94)g/L], adjusted serum calcium [(2.06±0.35)mmol/L vs (2.17±0.27)mmol/L] (all P<0.01). Patients with LT3S had higher BNP {[311.00(134.59,776.00)pg/mL] vs [159.00(58.28,378.75)pg/mL]}, hrCRP {[2.85(0.95, 6.81)mg/L] vs [1.34(0.54, 3.32) mg/L]}
     and serum total cholesterol [(3.18±1.29)mmol/L vs (2.76±0.93)mmol/L] than that in patients with normal T3 group (all P<0.01). LVMI of LT3S group [(154.16±58.15)g/m2] vs (125.24±42.67)g/m2] was much higher than that of normal T3 group (P<0.01). Cox risk regression model indicated that FT3 was significantly associated with all-cause mortality (HR 0.51, 95% CI 0.41-0.63; P<0.01) and cardiovascular mortality (HR 0.60, 95% CI 0.45-0.81; P<0.01).  Conclusion · LT3S is common in PD patients. Lower FT3 was an independent risk factor of  all-cause and cardiovascular mortality in PD patients.
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    Detection rate of gastrointestinal problems in children with autism spectrum disorder#br#
    LI Ke, JIANG Xiao-dong, JI Yi-ting, LI Fei
    2017, 37 (11):  1507. 
    doi: 10.3969/j.issn.1674-8115.2017.11.010

    Abstract ( 1261 )   PDF (8239KB) ( 885 )  
     Objective · To explore the detection rate of gastrointestinal problems in autism spectrum disorder (ASD) children.  Methods · 336 ASD children aged from 3-8 years old in Department of Developmental and Behavioral Pediatrics in Shanghai Children’s Medical Center and Xinhua Hospital were recruited to the study according to the inclusion and exclusion criteria. All of the children met diagnostic criteria of ASD in Diagnostic and Statistical Manual of Mental Disorders, 5th Edition. General information about the children, including birth date, gender and gastrointestinal problems during recent 3 months, were completed by parents or caretakers. The detection rate of gastrointestinal problems was depicted in this population.  Results · Among 336 ASD individuals, gastrointestinal problems were detected in 85 children. General detection rate for gastrointestinal problems is 25.3%. Specifically, 59 (17.6%) children were with constipation, 12 (3.6%) children with vomiting, 11 (3.3%) children with diarrhea, 7 (2.1%) children with abdominal pain and 6 (1.8%) children with abdominal bloating. There was no significant difference in detection rate for gastrointestinal problems among different age groups (χ2=1.511, P=0.680), as well as in severity scores for gastrointestinal problems (F=0.773, P=0.513).  Conclusion · Gastrointestinal problems are often found in Chinese ASD children and persistently occurred in children aged 3 to 8 years old, but the severity score for gastrointestinal problems did not significantly decrease as age increased. More concern must be paid to gastrointestinal problems, especially to constipation. Gastrointestinal problems should be taken as a part of chronic disease management in ASD children.
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    Evaluation of four physical examinations in diagnosis of complete rupture of anterior cruciate ligament
    WU Yu-feng, CHEN Liang, GAO Da-wei, WANG Jin-wu
    2017, 37 (11):  1513. 
    doi: 10.3969/j.issn.1674-8115.2017.11.011

    Abstract ( 1360 )   PDF (7203KB) ( 640 )  
    Objective · To estimate the value of four physical examination methods in the diagnosis of anterior cruciate ligament complete rupture.  Methods · A retrospective study was conducted on 100 patients who underwent surgical treatment for knee joint injury from July 11, 2016 to June 10, 2017. They received four physical examinations including Lachman test, anterior drawer test, lever sign test and pivot shift test. The results of the arthroscopy inspections were used as gold standard. The sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, negative likelihood ratio, accuracy and other parameter of four physical examinations were comprehensively discussed.  Results · Arthroscopic examination confirmed that 81 patients had complete rupture of anterior cruciate ligament. The sensitivities of anterior drawer test, lever test, pivot shift test and Lachman test were 87.7%, 100.0%, 97.5% and 96.3%, and the specificities were 84.2%, 78.9%, 73.7% and 63.2%, respectively. The positive predictive values were 95.9%, 95.3%, 94.0% and 91.8%, while the negative predictive values were 61.5%, 100.0%, 87.5% and 80.0%, respectively. The accuracies were 87%, 96%, 93% and 90%,  respectively. The positive likelihood ratios were 5.6, 4.7, 3.7 and 2.6, while the negative ones were 0.1, 0, 0 and 0.1, respectively.  Conclusion · Anterior drawer test is the most effective in diagnosing the complete rupture of the anterior cruciate ligament, while lever sign test is the most effective in excluding one. Lever sign test is the most sensitive and easy to operate, especially for fresh bruise, acute injury, limb swelling and obesity, with high diagnostic value.
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    Relationship between classification of vitreoretinal interface features and pathological myopia#br#
    WANG Xiao-Han, XIAO Mei-Chun, WANG Ruo-Shi, YANG Shi-Qi, LI Tong, ZHOU Yan-Ping, WANG Feng-Hua, SUN Xiao-Dong
    2017, 37 (11):  1518. 
    doi: 10.3969/j.issn.1674-8115.2017.11.012

    Abstract ( 1272 )   PDF (8451KB) ( 852 )  
    Objective · To investigate the relationship between pathological myopia and  classification of vitreoretinal interface features using enhanced vitreous imaging optical coherence tomography (EVI-OCT).  Methods · High myopia patients were included from 2015 to 2016. All participants underwent standardized medical interviews and ophthalmic examination.  Results · The included eyes were divided into two groups of pathological myopia and simple high myopia based on myopic macular degeneration observed on fundus photography . There were four types of vitreoretinal interface changes demonstrated on EVI-OCT scans in included eyes: Type1, posterior precortical vitreous pockets (PPVP), Type2, partial posterior vitreous detachment with vitreous adhesion (VA), Type 3, epiretinal membrane (ERM), and Type 4, no traction (NT).  Pathological myopia was mostly detected in VA, ERM, and NT groups.  Conclusion · EVI-OCT was able to demonstrate the early changes of vitreoretinal interface in high myopia eyes. Vitreous adhesions and traction detected by OCT may facilitate the occurrence of pathological myopia.
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    Efficacy of EGFR tyrosine kinase inhibitors in advanced non-small cell lung cancer patients with uncommon EGFR 21L861Q mutation#br#
    HU Zhang-guo, CAO Shu-hui, ZHONG Hua
    2017, 37 (11):  1524. 
    doi: 10.3969/j.issn.1674-8115.2017.11.013

    Abstract ( 1515 )   PDF (6818KB) ( 1069 )  
    Objective · To evaluate the efficacy of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKI) in non small cell lung cancer (NSCLC) patients with uncommon EGFR 21L861Q mutation.  Methods · Between June 2011 and Marth 2015, clinical data of 21 stage Ⅲ B/ Ⅳ NSCLC patients who received EGFR-TKI harboring uncommon 21L861Q mutation in EGFR at the Shanghai Chest Hospital were collected. Objective response rate (ORR), disease control rate (DCR), progression-free survival (PFS ) and overall survival (OS ) of the patients under TKI therapy were retrospectively analyzed.  Results · ORR and DCR of the patients under TKIs therapy (first-line+second-line+third-line) were 42.9% and 66.7% respectively. PFS and OS of patients who received therapy that consisted of EGFR-TKIs (first-line+second-line+third-line) were 7.03 months (95% CI, 5.50-8.69) and 22.80 months (95% CI, 16.22-25.65).  Conclusion · Our post-hoc analyses demonstrated that EGFR-TKIs showed activity in patients with uncommon EGFR 21L861Q-mutant NSCLC, less effective than in those with common mutations.
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    Study of incidental extracerebral findings on brain nonenhanced magnetic resonance imaging#br#
    YAO Ting-ting, YUE Wei-bin, WEI Xiao-er, WANG Dan, LU Jing, LI Jing, LI Yue-hua
    2017, 37 (11):  1529. 
    doi: 10.3969/j.issn.1674-8115.2017.11.014

    Abstract ( 1260 )   PDF (6744KB) ( 922 )  
    Objective · To explore the frequency, nondetection rate, and clinical importance of incidental extracerebral findings (IECFs)on brain nonenhanced magnetic resonance imaging(MRI).  Methods · The MRI data of  7 930 cases with suspected intracerebral lesionin were retrospectively analyzed. IECFs were categorized as E1 (clinically unimportant, e.g., sinus mucosal thickening), E2 (likely unimportant, e.g.,pharyngeal mucosal symmetrical thickening), and E3 (potentially important, e.g., pharyngeal mucosal asymmetrical thickening). The nondetection rate was determined by comparing the results of the structured approach with the initial MRI reports. The medical records were examined for patients with E3 IECFs to assess clinical importance and outcome of these lesions.  Results · A total of 5 992 IECFs were found in 4 213 patients (53.13%, 4 213/7 930). IECFs with E1 was 82.2% (4 924/5 992), E2 was 16.6% (995/5 992) and E3 1.2% (73/5 992). Overall IECFs and E1 findings were occurred more commonly in male patients (P=0.000, P=0.024). And the statistically significant difference was also found among different age groups (P=0.000). The nondetection rate was 56.9% (3 409/5 992) for overall IECFs and 32.9% (24/73) for E3 IECFs. Of the 73 patients with E3 IECFs, 34 (46.6%) received final diagnosis and appropriate treatment during the study period.  Conclusion · IECFs are prevalent in clinical patients on brain MRI with a nondetection rate of 32.9% for potentially important (E3) findings. The reporting of IECFs according to clinical importance is helpful for patients’ management.
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    Correcting false-positive pathogenic categorization of benign variants by re-sequencing of the recessive deafness genes in carriers#br#
    SHI Jun, HE Long-xia, YANG Tao
    2017, 37 (11):  1535. 
    doi: 10.3969/j.issn.1674-8115.2017.11.015

    Abstract ( 1400 )   PDF (7567KB) ( 820 )  
     Objective · To correct the false-positive categorization of the rare and benign variants by re-sequencing of the recessive deafness genes in carriers.  Methods · Heterozygous carriers of known causative mutations in recessive deafness genes were identified from normal hearing relatives of the deaf probands. Targeted next-generation sequencing was performed in those carriers to identify additional variants in trans, which was presumed to be benign.  Results · A total of 30 normal-hearing carriers of heterozygous and known pathogenic mutations were identified. By targeted nextgeneration sequencing of corresponding genes, 32 non-synonymous variants in trans were identified, which were categorized to benign mutations under the recessive and full-penetrant mode. Among those variants p.A434T in SLC26A4, p.R266Q in LOXHD1, p.K96Q in MYO15A, p.T123N in GJB2 and pV1299I in CDH23 were five rare variants with minor allele frequency of less than 0.005. Some of the 5 variants were predicted to be pathogenic by prediction programs including Polyphen-2, PROVEAN, SIFT and MutationTaster, or documented to be pathogenic by Deafness Variation Database or Human Genome Mutation Database.  Conclusion · Re-sequencing of the recessive deafness genes in carriers may efficiently correct the false-positive categorization of some rare and benign variants to improve the accuracy and efficiency of the next-generation sequencing in diagnosis of monogenic recessive hereditary disorders.
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    Clinical characteristics and prognostic factors of pelvic chondrosarcoma#br#
    ZHAO Qi-wu, WANG Ji-zhuang, ZHANG Wei-bin, SHEN Yu-hui, WAN Rong
    2017, 37 (11):  1542. 
    doi: 10.3969/j.issn.1674-8115.2017.11.016

    Abstract ( 1461 )   PDF (8239KB) ( 1045 )  
    Objective · To summarize the clinical characteristics and prognostic factors of pelvic chondrosarcoma.  Methods · A total of 73 cases of chondrosarcoma  were collected, including 24 of pelvic. The clinical characteristics and prognostic factors of pelvic chondrosarcoma were analyzed by statistic methods.  Results · The ratio of men to women was 1.4:1,and the median age is 43.5 years old.  According to the classification of pelvic proposed by Enneking, there were 5 in region Ⅰ , 14 in region Ⅱ , and 5 in region Ⅲ . On histological review, 1 was grade 1, 15 were grade 2 ,and 8 were grade 3. The histologic types included 17 conventional, 3 dedifferentiated, 2 secondary, and 1 mesenchymal. The overall survival rates of pelvic chondrosarcoma were (82.2±8.1) %,(77.3±8.9) % and(52.4±12.1) % for 3, 5 and 10 years respectively. Local recurrence rate of pelvic chondrosarcoma (83.3%) was significantly higher than those of other sites (34.7%)(P=0.000), and the proportion of amputation was significantly higher than the other sites (50.0% vs 20.4%, P=0.000), but there was no significant difference in the overall survival between the two groups (P=0.216).  Conclusion · Pelvic chondrosarcoma have a higher local recurrence rate than the other sites and is tend to result in amputation. Early local recurrence after surgery indicates poor prognosis.
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    Progress of adipocyte plasma membrane associated protein
    HUANG Jing-jing, MA Yu-hang, WANG Yu-fan
    2017, 37 (11):  1548. 
    doi: 10.3969/j.issn.1674-8115.2017.11.017

    Abstract ( 1423 )   PDF (5889KB) ( 1172 )  
     Adipocyte plasma membrane associated protein (APMAP) is a novel integral membrane protein, widely expressed in many organizations in humans. It promotes the differentiation of preadipocytes to mature adipocytes, so as to maintain normal physiological metabolism function in adipocytes, and plays a major role in adipocytes differentiation. Nowadays, some progress has been made in its role of inflammation and consequently in pathogenesis of gestational diabetes mellitus and other diseases. This paper gives a brief review about the structure and function of APMAP and sums up progress of the current studies.
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    Progress in genetics of autosomal dominant hereditary spastic paraplegia
    ZHAN Fei-xia, CAO Li
    2017, 37 (11):  1552. 
    doi: 10.3969/j.issn.1674-8115.2017.11.018

    Abstract ( 1349 )   PDF (8678KB) ( 1029 )  
    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 inducing gait abnormalities or disorders. In practice, based on the modes of inheritance, it can be divided into autosomal dominant, autosomal recessive, X-linked and mitochondrial maternal inheritance. According to whether the clinical manifestations complicated or not, HSP can be divided into pure and complex form. To date, mutations in 78 distinct loci and 59 mutated gene products have been identified or reported in patients with HSP; among them 20 distinct loci and 13 mutated gene products have been found in autosomal dominant spastic paraplegia. This is a review about the genetic characteristics and research progress of autosomal dominant HSP.
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    Application progress of cardiovascular magnetic resonance for coronary atherosclerotic heart disease#br#
    Gu Wei-feng, Pu Jun
    2017, 37 (11):  1558. 
    doi: 10.3969/j.issn.1674-8115.2017.11.019

    Abstract ( 1234 )   PDF (11549KB) ( 986 )  
    Coronary atherosclerotic heart disease (CHD) is a leading cause of death and disability worldwide. Cardiovascular magnetic resonance (CMR) is a multi-parametric imaging modality that yields high spatial resolution images that can be acquired in any plane for the assessment of global and regional cardiac function, myocardial perfusion and viability, anatomy and tissue characterization, all within a single study protocol and without exposure to ionising radiation. With the development of new technologies, CMR has been much more widely used in diagnosing CHD. The evaluation of myocardial viability based on late gadolinium enhancement CMR is very important in diagnosis and treatment of acute myocardial infarction. This article is a medical review about the application progress of CMR in CHD.
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    Research progresses of relative importance of temporal envelope cues in different frequency regions#br#
    GUO Yang, SUN Yuan-yuan, XIA Liang, FENG Yan-mei
    2017, 37 (11):  1565. 
    doi: 10.3969/j.issn.1674-8115.2017.11.020

    Abstract ( 1103 )   PDF (8007KB) ( 775 )  
    Based on the dominant fluctuation rates, the speech information in temporal domain could be divided into temporal envelope, periodic fluctuation information and temporal fine structure. Temporal envelope cues are essential for speech recognition, which could be transmitted to cochlear implanters by cochlear imlpants. The roles of temporal envelope cues from various frequency regions in speech recognition are diverse. Influenced by the testing materials, research methods, listening backgrounds and the parameters used to extract temporal envelope, the relative weights of temporal envelope across frequency regions would change accordingly. The research methods as well as their advantages or disadvantages and research results of relative weights of temporal envelope cues in different frequency regions are reviewed, and the possible reasons why the relative weights of temporal envelope cues in different frequency regions for non-tonal language and tonal language were different were discussed simply.
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    Recent progress in metabolomics with regard to diabetic complications and glucose fluctuation#br#
    CHEN Shu-qing, LU Jing-yi, MA Xiao-jing, ZHOU Jian
    2017, 37 (11):  1570. 
    doi: 10.3969/j.issn.1674-8115.2017.11.021

    Abstract ( 1274 )   PDF (7604KB) ( 758 )  
    Diabetes mellitus is a common metabolic disease and poses serious threat to human health. Diabetic complications are the major causes of both morality and disability. In recent years, studies show that the glucose fluctuation plays an important role in the development of chronic diabetic complications. As a new discipline to identify the overall metabolic changes of living organisms, metabolomics provides new insights into the study of diabetes and diabetic complications. In this paper, the recent studies on the development of chronic diabetic complications and blood glucose fluctuation in the field of metabolomics were reviewed.
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    Analysis method based on the gene-panel sequencing data
    LI Jian-feng, YAN Tian-qi, CUI Bo-wen, KONG Jie, WANG Shu, CHEN Bing, HUANG Jin-yan
    2017, 37 (11):  1575. 
    doi: 10.3969/j.issn.1674-8115.2017.11.022

    Abstract ( 2338 )   PDF (9204KB) ( 1365 )  
    Objective · To establish an integrative method for the gene-panel sequencing data to automatically complete quality control, detection of gene mutation and visualization.  Methods · Integrate several methods, e.g. FastQC, preprocessing and information of sequences (Prinseq) to develop an R package that can be used to visualize and control the quality of the raw sequencing reads and final mutations result. The sequencing reads mapped against to the reference genome using Burrows-Wheeler Alignment Tool (BWA)/Torrent Mapping Alignment Program (TMAP). Lofreq, Varscan2, the Genome Analysis Toolkit (GATK) and Torrent Variant Caller (TVC) were used to detect gene mutation and get the variant call format (VCF) format file. Annotate the gene mutation sites using Annovar.  Results · Thirty-six cases of acute myeloid leukemia sequencing from Ion Torrent Personal Genome Machine (PGM) platform were passed by this analysis tool. Ten mutation sites of 2 demo data were found in DNMT3A, TET2, JAK2, PHF6, ASXL1, NPM1 and CEBPA which were validated by sanger sequencing.  Conclusion · The analysis method that integrated and developed several tools for gene-panel sequencing data analysis can accomplish the gene-panel sequencing data analysis effectively. Besides, it can reduce the false positive ratio and improve the sensitivity of gene mutation detection that provides support for the analysis of gene-panel sequencing data.
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