Objective To investigate the relationship between JAK2 V617F mutation and vascular embolism diseases,in order to provide important basis for clinical diagnosis and treatment and prevention of embolism.Methods Patients who were hemoglobin ＞ 160 g/L,platelets ＞ 300×109/L treated in department of neurology,heart and vascular surgery in Xuanwu Hospital of Capital Medical University were collected.Vessel embolism and JAK2 V617F mutation situation and correlation were retrospectively analyzed.Results Among the total 56 cases,JAK2 V617F gene mutation positive rate was 37.50 ％ (21/56),the incidence of embolism was 40.07 ％ (23/56),there was correlation between JAK2 V617F mutation and embolism (P =0.014).Conclusion JAK2 V617F mutation is helpful to early diagnosis and treatment of myeloproliferative neoplasm,reduce thrombosis complication,improve the quality of life.

Objective To explore the changes of plasma fibrinogen ,plasminogen and D-dimmer before and after thrombolytic therapy in patients with acute myocardial infarction (AMI) ,to provide the evidence for treatment and prognosis AMI .Methods 93 cases of patients with AMI were divided into twe groups ,reperfusion group of 77 cases ,obstract group of 16 cases .At the same pe-riod ,30 cases myocardial infarction of patients with non thrombolytic therapy were selected as control group .The levels of plasma Fib ,Plg and D-dimer in each group were detected at different times .Results The levels of Fib and D-D in AMI patients were higher than those in the control group before thrombolysis therapy (P<0 .05) .Compared with before thrombolysis therapy ,the Fib and Plg levels of AMI patients were decreased significantly after thrombolytic therapy 6 h(P<0 .01) ,and returned to the normal level after 48 h .The D-dimmer level of AMI patients was increased significantly after thrombolytic therapy 6 h(P<0 .01) ,and returned to the normal level after 7 d .After thrombolytic therapy 6 h ,the levels of Fib and Plg of reperfusion group were decreased signifi-cantly(P<0 .05) ,the level of D-dimmer was increased significantly (P<0 .05) .Conclusion The levels of plasma fibrinogen ,plas-minogen and D-dimmer have important reference value for monitor the thrombolytic therapy effect in patients with AMI .

Objective To explore the application value of monoexponential, biexponential models multiple b values diffusion weighted imaging(DWI) in distinguishing pancreatic cancer from non-tumorous pancreas.Methods Subjects comprised 37 pancreatic cancers confirmed by clinical or surgery.Pancreas multiple b values DWI was performed using 3.0T scanner.Standard apparent diffusion coefficient (ADCstandard) was calculated using monoexponential diffusion model.Pure diffusion coefficient (ADCslow), pseudodiffusion coefficient (ADCfast) and perfusion fraction (f) were calculated using intravoxel incoherent motion(IVIM) diffusion model.Parameters of pancreatic cancers and non-tumorous pancreas were compared using independent samples t test.Results Mean ADCslow value of pancreatic cancer was higher than that of non-tumorous pancreas (0.611×10-3 mm2/s vs 0.521×10-3 mm2/s,P=0.037).Mean ADCfast and f values of pancreatic cancer were lower than that of non-tumorous pancreas (5.066×10-3 mm2/s vs 7.188×10-3 mm2/s,P=0.035;55.8% vs 64.0%,P=0.016;respectively).ADCslow of pancreatic cancer was positively correlated to ADCstandard (r=0.824,P=0.000).ADCfast of pancreatic cancer was negatively correlated to f(r=-0.558,P=0.000).Conclusion ADCslow, ADCfast and f derived from IVIM-DWI model can distinguish pancreatic cancer from non-tumorous pancreas.IVIM-DWI may be a promising and non-invasive tool for early diagnosing and differentiating pancreatic carcinoma from non-tumorous pancreas.

Objective A database of normal people's external nose was established through 3D measurement. This database was used to customize the external nose for patients with nasal defects and to assist the operator to carry out the whole nose reconstruction surgery, so as to carry out the postoperative evaluation.Methods 3D scanning of the subject's face, measurement of relevant indexes of the nose and establishment of a database, the operator used normal nose database to customize the customized external nose for 17 patients with nasal defects, assisted them in the whole nose reconstruction surgery, and used independent sample t test for data statistics to evaluate the expected effect of surgery. Results There was no statistically significant differences between the postoperative actual data and the preoperative personalized data (P> 0.05) in right root wing distance, left root wing distance, nose length, nasal base width, nose width, right side vertical bisect nasal line, left side vertical bisect nasal line, nose height, medial malleolus spacing, face width, mouth split width, facial height, nasal width index, nasal width index, interondylar-nasal width index and nasal high index. The actual data of nasal deep was statistically different from preoperative personalized data (P < 0.05). Conclusions Analysis showed no significant difference between the actual data nasal surgery and preoperative customization data. 3D measurement of normal human external nasal establishment database to customize the external nose for patients with nasal defects, can assist the surgeon to perform total nasal reconstruction surgery and improve predictability and make surgery more precise. Postoperative assessments can also be performed to compare preoperative and postoperative outcomes.

Objective To analyze CYP17A1 gene mutation in a patient with 46,XY disordered sex development and to explore the possible influence on the phenotype of the patient.Methods Eight exons of CYP17AI gene in the patient and her parents were amplified and directly sequenced.In order to construct Mini-gene system,PCR fragments containing wildtype and mutant splicing sites were inserted in expression vector,and then transfected into cells.RT-PCR was used to observe the influence of splicing site mutation.Wildtype and aberrant splicing CYP17A1 cDNA expression plasmids were constructed and transfected into cells respectively,and CYP17A1 enzyme activity was tested in vitro.Results Mutation analysis revealed compound heterozygous CYP17A1 mutations,with Y329fs in one allele and a synonymous substitution( c.1263G＞A:GCG＞GCA) in another allele.In vitro analysis showed that the synonymous substitution induced a novel splicing site,which resulted in aberrant splicing of CYP17A1 mRNA and lacked six or seven amino acids after 415 in splicing product.In vitro transfection and enzyme activity experiment showed that the aberrant splicing product abolished the enzyme activity completely.However,this mutation did not completely influence splicing.The patient also had a part of normal splicing product,which was a coincidence to the phenotype of the patient.Conclusion This is the first description of an exonic splicing mutation in CYP17A1 relevant to the 17ot-hydroxylase deficiency phenotype.The functional study of the aberrant splicing variant has been initiated.

Objective Based on the three years' peer review data of a project fund,the results of fund peer review were analyzed and evaluated,to provide references for further improvement of the peer review and management.Methods Based on the fund's peer review results of 2145 projects in three years,descriptive statistics,single-item identification index were adopted,as well as RJ normality test,t-test and other statistical methods,to analyze and assess the overall data of fund,project categories,individual scores,etc.Results The score distribution of the three year peer review project of the fund is almost normal distribution,and the overall consistency of peer review shows a better trend.The analysis shows that the peer review experts of the fund have better consistency in terms of project innovation,rationality and characteristics.While there were differences in the peer review of applicability.Conclusions The three year peer review data of the fund show that three years' evaluation results are reliable,reasonable,and the quality of evaluation is good,showing a better development trend in both project quality and expert consistency.

Objective: The purpose is to explore the method and clinical effects of total nasal reconstruction with the assistance of three-dimensional (3D) scanning, 3D printing and monitoring the blood circulation after operation. Methods: 3D scanning: Artex Eva 3D scanner was used to record the nose data of 500 volunteers from Xuzhou Medical University and its affiliated hospital from September 2016 to February 2017. A nose database of normal individuals was established, of which male was 138 and female was 362. In addition, 3D facial scanning was performed in patients wish to total nasal reconstruction. 3D printing: The individualized nasal structure was designed, with the assistant of patients′facial characteristics, combined with the normal nose database and the opinion of the patients. Anactual nose model was used as guidance during the operation. Postoperative monitoring: The blood flow and the retraction rate of forehead flap after surgery were measured using Laser Doppler Flowmeter and Geomagic Qualify software. The blood flow values, the temperature and the surface area of the flap were recorded and analyzed. Results: The nasal database of normal people in the Huaihai region successfully established. Overall, the width of the nose takes up a quarter of the width of the faces, and the length is 1/3 of the distance from the hairline to the chin. From February 2017 to June 2018, 7 cases underwent total nasal reconstruction operations were performed by this procedure. The nasal models were all successfully printed out, as the guide of flap taken during the operation. The mean operation time of the cases was (2.45±0.75) h, and the follow-up time was 5-15 months, with an average of 12.5 months. After the operations, the retraction rate of the forehead flap were (21.8±2.72)% in one month, and (29.1±1.82)% in six months. All patients are satisfied with the nasal appearance. Conclusions Nasal reconstruction with forehead flap based on 3D scanning and 3D printing, provides objective targets for nasal fine-structure in a noninvasive way. The postoperative monitoring of the blood flow promotes the successful completion of the total nose reconstruction.

Purpose To explore the application of intra voxel incoherent motion diffusionweighted imaging (IVIM-DWI) quantitative parameters in evaluating the pathological stage of pancreatic cancer by comparing the manifestations of IVIM-DWI in patients with pancreatic cancer in different differentiaed degrees as there lacked effective screening instrument for the early diagnosis of pancreatic cancer.Materials and Methods Sixteen patients with pathologically proved pancreatic cancer (10 with high-moderation differentiation while 6 with low differentiation) were enrolled,and 3.0T MRI was used to conduct pancreatic DWI with multiple b values.IVIM double-exponential model was used to analyze the measurement parameters of DWI with multiple b values,so as to measure the slow apparent diffusion coefficient (ADCslow),fast apparent diffusion coefficient (ADCfast) and filling fraction (f).Results The ADCslow value was evidently lower in patients with high-moderate differentiated pancreatic cancer than those with low differentiated pancreatic cancer [(0.546± 0.041)× 10-3 mm2/s vs.(0.677± 0.120)× 10-3 mm2/s,P＜0.05],and f value was notably higher in patients with high-moderate differentiated pancreatic cancer than those with low differentiated pancreatic cancer [(59.3 ± 8.8)％ vs.(41.7±22.4)％,P＜0.05].The area under the curve of ADCslow was higher than that of f when distinguishing high-moderate differentiated and low differentiated pancreatic cancer (0.850＞0.750).The sensitivity and specificity were 100.00％ and 83.33％ when ADCslow ≤ 0.599×10-3 mm2/s,and were 100.00％ and 66.67％ when f＞44.7％ in distinguishing high-moderate differentiated and low differentiated pancreatic cancer,respectively.Conclusion ADCslow and f,as the quantitative parameters for IVIM-DWI,can distinguish high-moderate differentiated and low differentiated pancreatic cancer,and predict the pathological stage of pancreatic cancer before operation.Moreover,they also have high diagnostic efficacy in distinguishing high-moderate differentiated and low differentiated pancreatic cancer.

Objective:To analyze the clinical characteristics and influencing factors of vascular involvement in Beh?et′s Disease (BD) to improve and provideunderstanding of insights for clinicians to better understand this condition.Methods:Clinical data from 220 BD patients admitted to the First Affiliated Hospital of Guangxi Medical University from January 2012 to May 2022 were collected. Clinical manifestations and laboratory findings were compared between BD patients with and without vascular involvement, as well as between those with improved conditions and those with progressive conditions. Binary logistic regression was used to analyze the influencing factors.Results:①The average age of the 220 BD patients was 36.5±15.3 years. Among them, 23 patients (10.5%) had vascular involvement, including 20 males (87.0%).②Compared to BD patients without vascular involvement, those with vascular involvement had significantly higher rates of smoking [6.1%(12/197) vs.34.8%(8/23), χ2=17.19, P<0.001], cardiac involvement [1.5%(3/197) vs. 13.0%(9/23), χ2=6.42, P=0.011], and elevated C-reactive protein(CRP) levels (78.3% vs. 56.3%, χ2=4.08, P=0.043).③ Among BD patients with vascular involvement, 11 cases (47.8%) had venous lesions, and 20 cases (87.0%) had arterial lesions, with 8 cases (34.8%) having both venous and arterial involvement. The most common type of vascular involvement was arterial dilatation (11 cases), mainly aneurysms (10 cases), and deep venous thrombosis of the lower extremities (7 cases).④The 23 BD patients with vascular involvement were followed up for an average of 18.3 months. Among them, 16 patients (69.6%) showed stable improvement, while 7 patients (30.4%) experienced disease progression, including 4 deaths (1 male and 3 females). A total of 91.3% (21/23) of the patients received glucocorticoid therapy. Immunosuppressive therapy was administered to 82.6% (19/23) of the patients, with 65.2% (10/23) receiving with cyclophosphamide and 43.5% receiving with thalidomide. Additionally, 13% (3/23) of the patients were treated with cyclosporine and methotrexate, respectively, and 8.7% (2/23) were treated with received mycophenolate mofetil. Anticoagulant therapy was given to 21.7% (5/23) of the patients, using either warfarin or low molecular weight heparin. Biologic therapy was administered to 17.4% (4/23) of the patients, and surgical intervention was performed in 43.5% (10/23) of the patients. ⑤Binary logistic regression analysis identified male gender [ OR(95% CI)=5.70(1.60, 20.90), P=0.009] as an indepe-ndent risk factor for vascular involvement in BD. Conclusion:The incidence of vascular involvement in BD is 10.5%, with a higher prevalence in males. Arterial involvement is more common than venous involvement, with arterial aneurysms being the most common manifestation. Clinicians should pay attention to CRP and total cholesterol levels in BD patients.