Hereditary multiple exostoses (HME) is an autosomal dominant genetic disease characterized by multiple benign cartilage-capped tumors primarily at the juxta-epiphyseal region of the long bone or on the lfat bones. Because the tumor can interfere with normal epiphysis, it causes bone deformities. The clinical features include short stature, the mechanical axis deviation, and function impairment. Recent studies showed that EXT gene mutation was associated with HEM. The EXT gene was involved in the biosynthesis of heparin sulfate. The gene mutations resulted in abnormal chondrocyte differentiation. This paper reviews the research progress in clinical manifestation, pathogenesis, biochemistry, the genotype-phenotype correlations, and treatment in HME.

[Objective]To evaluate the effectiveness of ultrasound screening for degenarative dislocation of hip(DDH)in infant.[Method]Fifty infant hips were accepted for the ultrasound screening and the pelvic radiograph simultaneously.The author measured the ? angle on ultrasonography and the acetabulum index(AI)on the radiograph,then evaluated the data by different criteria.[Result]Forty-two hips were diagnosised as DDH according to the X-ray,but by the ultrasound there only 13 hips were abnormal.The author analyzed the data by paired-sample x2 test,there was significant difference between two methods(P

Objective To establish the method of gene mutation screening for HME and investigate the relationship between genotype and clinical phenotype in HME patients. Methods Fifteen cases of HME probands were divided into the following four subgroups: mild (M) and severe ( Ⅰ S, Ⅱ S, Ⅲ S) according to the clinical diagnosis. DNA samples were obtained from the probands and family members. All of the EXT1 and EXT2 gene exons and their boundary sequences were amplified by PCR, and sequenced by directsequencing. Then the relationship between the genotypes and clinical phenotype was analyzed. Results Among the fifteen cases of HME probands, nine harbored EXT1 gene mutation, while the other 6 were positive for EXT2 gene mutation. Moreover, six novel mutations in EXT1 gene, including I8 + 2T ＞ G, c. 1182delG,c. 1108G ＞T(p. E370X) ,c. 335delA,c. 361C ＞T(p. Q121X) and c. 1879_1881delCAC were identified. In 9 patients with EXT1 gene mutation, 2 (22. 2% ) were M-type, 2 (22. 2% ) were Ⅰ S -type, 4 (44. 4% )were Ⅱ S-type,and 1 ( 11.1% ) was ⅢS-type. Whereas, 5 cases (83.3%) were M-type and only one case was Ⅱ S-type( 16. 7% ) in 6 patients with EXT2 gene mutation. Conclusions An accurate and simple gene diagnostic method for HME was established. Six novel EXT1 gene mutations, including I8 + 2T ＞ G,c. 1182delG, c. 1108G ＞T(p. E370X), c. 335delA, c. 361C ＞T(p. Q121X)and c. 1879_1881delCAC were identified as well. The clinical phenotype of the patients with EXT1 gene mutation was more severe compared to those with EXT2 gene mutations.

Objective To investigate cerebral hemodynamic changes in patients with unilateral stenosis of carotid artery by using CTP and CTA,and to analyze the dependability of the degree of artery stenosis and cerebral hemodynamic changes.Methods Fifty patients with unilateral stenosis of carotid artery underwent toshiba aquilion one CTP and CTA.The patients were divided into mod-erate stenosis group,severe stenosis group and occlusion group according to the NASCET criteria.The rCBF,rCBV,rMTT and rTTP were measured ,and compared between stenosis and contralateral hemispheres ,and the dependability were analyzed between the de-gree of unilateral carotid artery stenosis and relative perfusion parameters by using ranking-test.Results (1)There were 20 cases of unilateral carotid artery occlusion,13 severe stenosis,1 7 moderate stenosis.(2 )No statistical significance on rCBF and rCBV was found among the three stenotic groups (P>0.05).There were statistical significances on rMTT and rTTP among the three stenotic groups(P<0.05).(3)There were statistically no correlations between the values of rCBV,rCBF and the degree of artery stenosis.There were statistically positive correlations between the values of rMTT,rTTP and the degree of artery stenosis with the pearson correlations 0.512 and 0.708. Conclusion rMTT and rTTP are more sensitive parameters for evaluation of cerebral hemodynamics and dependability of carotid ar-tery stenosis on the CTP and CTA.These have an important value to guide the clinical treatment.

Objective·To directly detect the bacteria in positive blood culture specimens by the separation gel tube combined with MicroflexTM matrixassisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS),perform direct antimicrobial susceptibility test based on the results of mass spectrometry,and preliminary explore the redesign of conventional positive blood culture specimen processing flow.Methods·449 positive-alarm blood culture specimens of monobacterial infections in clinical microbiology laboratory of Xirhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine from September 1,2015 to August 31,2016 were collected and prepared according to the new positive blood culture specimens processing flow.The new redesigned processing flow included smear staining and microscopy,separation gel/mass spectrometry direct identification,bacteria film/mass spectrometry identification,pure colony/mass spectrometry identification,direct antimicrobial susceptibility test,and conventional antimicrobial susceptibility test,etc.According to the results of microscopic examination,identification test,and antimicrobial susceptibility test,level Ⅰ direct microscopic examination report,positive blood culture level Ⅱ (direct identification/bacteria film identification or direct antimicrobial susceptibility) report,and level Ⅲ final report were provided sequentially.Results·With the new redesigned processing flow,bacterial specieslevel identification reports for 82.2％,95.8％,and 100％ of positive blood samples could be obtain at 10 am and 17 pm on the current day and 10 am in the next morning,respectively,and be sent to clinical departments.Initial antimicrobial susceptibility reports for the bacteria that were considered as clinical significant pathogens by preliminary assessment could be provided in the next day of blood culture positive alarm with a higher coincidence rate as compared to the results of traditional antimicrobial susceptibility tests.Conclusion·The time from blood culture positive alarm to the provision of initial identification and antimicrobial susceptibility reports is shorter by 1-2 d for the redesigned processing flow than for the traditional one,which can provide fast and accurate etiologic diagnosis evidence for bloodstream infections for clinicians and is important for improving early diagnosis and treatment of clinical bloodstream infections.

Objective To explore the 5,10-methylenetetrahydrofolate reductase( MTHFR) and 5-methyltet-rahydrofolate-homocysteine methyltransferase reductase( MTRR) gene polymorphisms among the Han women in Laiwu City.Methods A total of 559 Han women were recruited.And their oral epithelial cells were collected to extract genome DNA in order to detect gene polymorphisms of MTHFR and MTRR using fluorescence quantitative PCR.Then the results were compared with those in other cities in China.Results The frequency of MTHFR 677CC,677CT and 677TT of Han women in Laiwu city was 14.3%,46.7%and 38.1%,respectively.The frequency of MTHFR 677TT among Laiwu women was significantly different to those of Zhenjiang, Wuhan, Kunming, Deyang, Huizhou, Qionghai (P<0.05).The frequency of AA,AC,CC gene type on MTHFR A1298C was 78.2%,19.7% and 2.1%,respec-tively, the frequency was significantly different to those of Zhenjiang, Wuhan, Kunming, Deyang, Huizhou, Qionghai (P<0.05).The frequency of AA,AG,GG gene type on MTRR A66G was 53.3%,38.8%and 7.9%,respectively. The frequency of MTRR 66GG was significantly different to that of Qionghai(P<0.05).Conclusion The MTHFR, MTRR polymorphism distribution of Han women in Laiwu City has the characteristic of region specificity,respectively.

Objective To investigate the functional and radiographic outcomes of pre-bent elastic stable intramedullary nail in treatment of distal radial shaft fractures in children. Methods From January 2006 to December 2008, 18 children with distal radial shaft fracture were treated by close reduction and internal fixation with a pre-bent elastic stable intramedullary nail. The age range was from 5 years to 15 years,with an average of 9 years and 8 months. All the cases were closed fractures, and followed up at least 12 months. The time interval from injury to surgery were 1 to 9 days. Fracture sites were located at the distal radial shaft. Among them, 15 cases suffered ipsilateral ulnar fracture, and the others for solitery radial fracture. Closed reductions were performed under C-arm fluoroscopy. All affected arms were immobilized in the functional position postoperatively by the plaster cast beyond elbows. Results The average time of fracture complete union was 5 months (ranged from 3 months to 7 months). The average preoperative angulation of the fractures: anteroposterior view 16.2±7.5 degrees, lateral view 26.2±13.1 degrees. The average postoperative angulation of the fractures: anteroposterior view 2.7±1.5 degrees, lateral view 1.4±1.2 degrees. All fractures maintained good alignment postoperatively, and 94.4% (17/18) of the patients regained a full range of rotation of the forearm. One patient suffered limitation of rotation in forearm less than 10°, and this had improved by final follow-up. Complications included soft tissue irritation at the site of nail insertion in one patient and transient scar hypersensitivity in another. Conclusion Fixation with a pre-bent elastic stable intramedullary nail is an effective, safe and convenient method for treating distal radial shaft fractures in children.

OBJECTIVETo investigate the chemical constituents of an endophytic fungus, Nodulisporium sp. A4, from the medicinal plant Aquilaria sinensis and search for antitumor natural products.

METHODThe fungus was cultured in liquid medium and extracted with EtOAc. The compounds were isolated by various chromatographic methods (silica gel, reverse silica gel, Sephadex-LH20, preparative TLC and so on) and recrystallization. Structural elucidation was conducted by extensive analysis of spectroscopic data as well as by comparison with literature reports. The antitumor activity of isolated compounds was tested by MTT method in vitro.

RESULTSeven compounds were isolated and identified from the broth culture, their structures were determined to be 5-methyl-2-vinyltetrahydrofuran-3-ol (1), 6-methyl-2-(5-methyl-5-vinyltetrahydrofuran-2-yl) hept-5-en-2-ol (2), 6alpha-hydroxycyclonerolidol (3), rel-(1S,4S, 5R,7R,10R)-10-desmethyl-1-methyl-11-eudesmene (4), tyrosol (5), 8-methoxynaphthalen-1-ol (6), and 1,8-dimethoxynaphthalene (7). Three compounds were isolated and identified from the mycelia as ergosterol (8), ergosterol peroxide (9), and cerevisterol (10). The in vitro pharmalogical evaluation results displayed that compounds 3 and 4 showed 89.1%, 44.2% and 82.3%, 79.8% inhibition against tumor cell lines SF268 and NCI-H460 at 100 mg x L(-1), respectively.

CONCLUSIONCompound 1 was a new natural product, compounds 2, 3, 7 and 10 were reported from the genus Nodulisporium sp. for the first time. Compounds 3 and 4 exhibited weak inhibitory effects on the proliferation of tumor cell lines SF268 and NCI-H460.

Cell Line, Tumor ; Cell Proliferation ; drug effects ; Endophytes ; chemistry ; Humans ; Organic Chemicals ; chemistry ; isolation & purification ; pharmacology ; Thymelaeaceae ; microbiology ; Xylariales ; chemistry

Objective To explore the risk factors of postoperative pulmonary infection in patients with craniocerebral injury and establish a nomogram model to predict the risk of postoperative pulmonary infection after craniocerebral injury.Methods The clinical data of 169 patients with craniocerebral injury,admitted to and underwent craniotomy in our hospital from January 2013 to December 2018,were retrospectively analyzed.The clinical data of patients with postoperative pulmonary infection and without postoperative pulmonary infection were compared.The risk factors of postoperative pulmonary infection were analyzed by multivariate Logistic regression.R language was used to establish a nomogram model to predict the risk of postoperative pulmonary infection after craniocerebral injury.Receiver operating characteristic (ROC) curve was used to explore the prediction efficiency of the nomogram model for pulmonary infection after craniocerebral injury.Results Among the 169 patients,74 (43.8％) were complicated with pulmonary infection and 95 (56.2％) were not complicated with pulmonary infection.As compared with non-pulmonary infection group,pulmonary infection group had significantly higher percentages of patients with open craniocerebral injury and Glasgow coma scale (GCS) scores＜7,significantly higher American Society of Anesthesiologists (ASA) grading,lower albumin level one week after surgery,statistically longer operation time,and significantly higher percentages of patients with conscious disorder,patients accepted intraoperative blood transfusion,patients used breathing machine,and patients stayed in bed for 4 weeks or more (P＜0.05).Multivariate Logistic regression analysis showed that GCS scores (OR=0.243,95％CI:0.122-0.497,P=0.000),ASA grading (OR=3.349,95％CI:2.233-5.021,P=0.000),disturbance of consciousness (OR=3.185,95％CI:1.217-8.334,P=0.018),and useofventilator (OR=3.376,95％CI:1.590-7.167,P=0.002) were independent risk factors for postoperative pulmonary infection in patients with craniocerebral injury.The scores of the nomograrn model were 13.7,100.0,38.0 and 27.5 in GCS scores,ASA grading,disturbance of consciousness and use of ventilator,respectively.The consistency index of the nomogram model for predicting postoperative pulmonary infection in patients with craniocerebral injury was 0.835.ROC curve showed that the area under the curve predicted by nomogram model for postoperative pulmonary infection in patients with craniocranial injury was 0.840 (95％CI:0.778-0.901).Conclusion Based on the risk factors for pulmonary infection after craniocerebral injury,a nomogram model for predicting the risk of pulmonary infection is established,which has a good differentiation degree and prediction effect,and can provide a reference for medical staffto identify high-risk patients at an early stage,so as to take more targeted intervention measures.

Objective To investigate the expression levels of serum miR-210and miR-375in patients with non-small cell lung cancer (NSCLC).Methods A total of 25NSCLC patients (NSCLC group) and 14healthy volunteers (control group) were enrolled in this study.The relative expression levels of 9miRNAs (miR-182, miR-126, miR-31, miR-21, miR-221, miR-200b, miR-183, miR-210and miR-375) in 6 NSCLC patients and 6healthy volunteers were measured by RT-qPCR.The dysregulated miRNAs will be selected as candidate miR-NAs.The diagnostic value were evaluated by ROC curve.Results Compared with control group, 2 (miR-210and miR-375) out of 9miRNAs were up-regulated in NSCLC group, and the differences were statistically significant (P＜0.05), while the other 7miRNAs were not consistent with the reported literatures.Therefore, miR-210and miR-375were selected as candidate miRNAs.We found that the relative expression level of miR-210in the lung adenocarcinoma group was significantly different from control group (P＜0.05), while there was no significant difference between the squamous cell carcinoma group and the control group (P＞0.05).There was no significantly statistical difference in the relative expression level of miR-375between lung squamous cell carcinoma group, lung adenocarcinoma group and the control group (P＞0.05).The AUC of serum miR-210of lung adenocarcinoma group was 0.737 5 (95％CI:0.498 3-0.976 7, P=0.091 4) with a medium diagnostic value.Conclusion MiR-210is highly expressed in the serum of patients with lung adenocarcinoma, suggesting that miR-210may be a novel tumor marker for the diagnosis of lung adenocarcinoma.The value of miR-375in the diagnosis of lung cancer still needs to be further explored.