Objective To detect the mutations of Von Hippel-Lindau (VHL) gene via analyzing the prevalence of family members of VHL syndrome,clinical diagnosis and treatment,and gene analysis of patients with hemangioblastoma.methods All members of the VHL syndrome family members improved all relevant tests and plotted the family map.5 ml peripheral blood was extracted for gene sequencing,and the sequencing Result s were compared with the reported mutations of VHL gene in NCBI database.Result s(1)Analysis of clinical data of four members of the family:Ⅰ-2,Ⅱ-1,Ⅱ-5 suffering from central nervous system hemangioblastoma, Ⅱ-3 with pancreatic,retinopathy and pheochromocytoma,and Ⅱ-5 also combined with kidney,pancreatic lesions.The second generation of patients in the family have been treated surgically.(2)Gene sequencing Result s showed that all subjects in the test had the same mutation:exon2 109 sequence ATATCACACTGCCA was deleted and termination codon UGA appeared in exon 502.Conclusion Through the mutations of the VHL syndrome family,it is found that the family mutation type is a new mutation.For patients with central nervous system hemangioblastoma-based should be suspected of the disease and improve the family history survey.Once the diagnosis of familial VHL syndrome patients are confirmed,it is necessary to inform the other members of the family for clinical screening,and carry out genetic testing to reduce the harm of the disease to the greatest extent.

3' Untranslated Regions ; genetics ; Base Sequence ; China ; DNA, Complementary ; chemistry ; genetics ; Genetic Variation ; Hepacivirus ; genetics ; Humans ; Molecular Sequence Data ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Alignment ; Sequence Analysis, DNA ; Sequence Homology, Nucleic Acid

OBJECTIVETo obtain very end full-length cDNA of hepatitis C virus (HCV) 5' untranslated region (5' UTR), and analyse its primary and secondary structure.

METHODSBy reverse transcription-nested polymerase chain reaction (RT-PCR) and restriction fragment length polymorphism (RFLP), a patient infected with genotype 2a HCV was found. Total RNA isolated from the serum as template, the cDNA of 5' noncoding region was amplified using rapid amplification of cDNA ends methods (RACE), the fragments were recombined by A-T clone strategy, the recombinants were confirmed by RFLP and PCR then sequenced. Secondary structures were analysed by RNA draw.

RESULTSVery end full-length cDNA of 2a genotype HCV 5' UTR was obtained by RACE. In five clones obtained, three contained full-length 5' UTR cDNA, and A21G, G170A, T222C, T247C, C339T substitutions were found compared with HC-J6. he homologies with HCV-1,HC-J6,HC-C2, HC-J8 were 93.6%-94.4%, 92.1%-93.0%, 98.8%-99.7%, 96.2%-96.5%, respectively; however, the substitutions did not alter the secondary structure. Two out of five clones were deleted to have 53 and 144 bases at 5' terminus of HCV 5' UTR, respectively.

CONCLUSIONSRACE is rapid and effective, works well to obtain very end of virus genome. With that, Authors obtained full-length cDNA of genotype 2a of HCV 5' UTR. There are genes deleted at 5' terminus circulated in hepatitis C patients.

5' Untranslated Regions ; genetics ; Base Sequence ; DNA, Complementary ; genetics ; DNA, Viral ; genetics ; Hepacivirus ; classification ; genetics ; isolation & purification ; Hepatitis C ; virology ; Humans ; Molecular Sequence Data ; Nucleic Acid Amplification Techniques ; methods ; Polymorphism, Restriction Fragment Length ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA

0.05). 100% occlusion was achieved in 18 patients with cerebral aneurysms by using embolization. Conclusion 3D DSA may improve the accuracy in diagnosing SAH and in showing clearly the stereo conformation of aneurysm and the relationship of sac and parent artery. It is helpful in the evaluation and guidance of embolization of cerebral aneurysms.

Objective To investigate the safety and feasibility of the modified terminal cannula ileostomy in laparoscopic anus-preserving operation of low rectal cancer (RC).Methods The retrospective cross-sectional study was conducted.The clinicopathological data of 15 patients who underwent laparoscopic radical resection of RC + terminal cannula ileostomy in the Subei People's Hospital of Jiangsu Province between September 2016 and June 2017 were collected.The patients underwent laparoscopic low anterior resection of RC,intra-abdominal sigmoid colon-rectum end-to-end anastomosis after extracting tumor specimens,and terminal cannula ileostomy in vitro.Observation indicators:(1) intraoperative situations:operation time,time of cannula ileostomy,volume of intraoperative blood loss,number of lymph node dissected,surgical margin;(2) postoperative situations:time to initial anal exsufflation,recovery time of defecation,time of tube removal,closing time of stoma,postoperative complications,duration of hospital stay;(3) follow-up situations.Follow-up using outpatient examination and telephone interview was performed to detect the anastomotic leakage-related complications up to December 2017.Measurement data with normal distribution were represented as (x)±s.Results (1) Intraoperative situations:all the 15 patients underwent successful laparoscopic radical resection of RC + terminal cannula ileostomy,without conversion to open surgery and death.The operation time,time of cannula ileostomy,volume of intraoperative blood loss and number of lymph node dissected were respectively (170 ± 34) minutes,(23 ± 4) minutes,(59 ± 27)mL and (13 ± 5) per case.No residual cancer cells were found in resection margins.(2) Postoperative situations:time to initial anal exsufflation and recovery time of defecation in 15 patients were respectively (6± 1) days and (7 ± 1) days.The stoma was automatically closed after tube removal,and time of tube removal and closing time of stoma after tube removal were respectively (23 ± 2) days and (3 ± 1) days.The incidence of postoperative complications was 1/15.One patient with catheterization-related complications was improved by strengthening dressing and antibiotic use,and the stoma was healed at 8 days after tube removal.There was no anastomotic leakage-related complications and death.The duration of hospital stay was (15±3) days.(3) Followup situations:all the 15 patients were followed up for 6-12 months.During the follow-up,there were no anastomotic leakage-related complications and death.Conclusion The modifyied terminal cannula ileostomy is safe and feasible,and is also an ideal surgical method for preventing anastomotic leakage in the laparoscopic anuspreserving operation of low RC.

Objective:To investigate the efficacy and safety of different stents assisted embolization in the treatment of subarachnoid hemorrhage(SAH) caused by V4 dissecting aneurysm of vertebral artery.Methods:The clinical data of 39 patients with spontaneous SAH V4 dissecting aneurysm treated at the Department of Neurosurgery, the Northern Theater General Hospital from January 2016 to June 2019 were analyzed retrospectively.There were 21 males and 18 females, aged (48±17) years(range:35 to 68 years).There were 24 cases of HUNT-HESS grade Ⅰ and 15 cases of grade Ⅱ.Among them, 20 cases were treated with single stent-assisted embolization, 9 cases with multi-stent-assisted embolization, 9 cases with semi-dense mesh-assisted embolization, and 1 case with dense-mesh stent-assisted embolization.The perioperative and postoperative complications, postoperative recurrence were collected.Results:Intraoperative complications included 2 cases of aneurysm rupture and 2 cases of acute thrombosis.All aneurysms were densely packed according to the angiography performed immediately after operation.Postoperative complications included 3 cases of long-term responsible vascular ischemia(modified Rankin score<2). The patients were followed up for 15.1 months(range: 12 to 29 months). At the last follow-up, aneurysms recurrence occured in 10 cases, the recurrence rate was 25.6%(10/39). There were 6 cases of recurrence and 2 cases of complications in 20 cases with single stent-assisted embolization, 3 cases of recurrence and 4 cases of complications in 9 cases with multi-stent-assisted embolization, 1 case of recurrence and 1 case of complications in 9 cases with semi-dense mesh stent.Conclusion:Endovascular treatment is feasible for patients with vertebral artery dissecting aneurysm, and the appropriate surgical method should be selected according to the vascular structure and the location of the aneurysm.

Objective:To investigate the efficacy and safety of different stents assisted embolization in the treatment of subarachnoid hemorrhage(SAH) caused by V4 dissecting aneurysm of vertebral artery.Methods:The clinical data of 39 patients with spontaneous SAH V4 dissecting aneurysm treated at the Department of Neurosurgery, the Northern Theater General Hospital from January 2016 to June 2019 were analyzed retrospectively.There were 21 males and 18 females, aged (48±17) years(range:35 to 68 years).There were 24 cases of HUNT-HESS grade Ⅰ and 15 cases of grade Ⅱ.Among them, 20 cases were treated with single stent-assisted embolization, 9 cases with multi-stent-assisted embolization, 9 cases with semi-dense mesh-assisted embolization, and 1 case with dense-mesh stent-assisted embolization.The perioperative and postoperative complications, postoperative recurrence were collected.Results:Intraoperative complications included 2 cases of aneurysm rupture and 2 cases of acute thrombosis.All aneurysms were densely packed according to the angiography performed immediately after operation.Postoperative complications included 3 cases of long-term responsible vascular ischemia(modified Rankin score<2). The patients were followed up for 15.1 months(range: 12 to 29 months). At the last follow-up, aneurysms recurrence occured in 10 cases, the recurrence rate was 25.6%(10/39). There were 6 cases of recurrence and 2 cases of complications in 20 cases with single stent-assisted embolization, 3 cases of recurrence and 4 cases of complications in 9 cases with multi-stent-assisted embolization, 1 case of recurrence and 1 case of complications in 9 cases with semi-dense mesh stent.Conclusion:Endovascular treatment is feasible for patients with vertebral artery dissecting aneurysm, and the appropriate surgical method should be selected according to the vascular structure and the location of the aneurysm.

Objective To reveal the virulence genes and the polymorphisms of chromosomal 16S rRNA gene of Yersinia enterocolitic strains isolated from different districts in Jiangsu Province,2015. Methods Five virulence genes(ail,virF,yadA,ystA and ystB)of Yersinia enterocolitic strains isolated from different districts in Jiangsu Province were detected by using polymerase chain reaction(PCR),and phylogenetic analysis of chromosomal 16S rRNA gene was performed by amplification and sequencing. Results In this study,73 Yersinia enterocolitic strains were collected in Jiangsu Province in 2015.Among them,56(76.7%)strains carried virulence genes,and ail-virF-yadA -ystA -ystB+were the dominate types in diarrhea patients and other hosts.All strains can be clustering into 4 groups according to the phylogenetic analysis of chromosomal 16S rRNA gene.Conclusions The non-pathogenic Yersinia enterocolitic(ystB+)is the dominant strain in Jiangsu province,and the pathogenic strains are also found in this region.The result of phylogenetic analysis of chromosomal 16S rRNA gene and the profiles of virulence genes are highly consistent.

Objective To compare the short-term outcomes between lateral retinacular release (LRR) via a prolonged incision versus arthroscopic LRR in osteofascial medial patellofemoral ligament reconstruction (MPFL-R) for recurrent patellofemoral dislocation.Methods From May 2012 to March 2015,51 patients with recurrent patellofemoral dislocation were treated at the Department of Joint Surgery,The Third Affiliated Hospital to Hebei Medical University.They were 16 males and 35 females,aged from 20 to 36 years (mean 27.2 years).Of them,28 underwent LRR via a prolonged incision in MPFL-R (incision group) and 23 did arthroscopic LRR in MPFL-R (microscopic group).Imaging changes were assessed by comparing preoperative and postoperative values of patella extensibility,patellar tilt angle,trochlear groove angle and tibial tuberosity-trochlear groove spacing (TT-TG);the knee joints were scored with Kujala and Lysholm functional rating systems at the last follow-ups.Results The 2 groups were compatible due to insignificant differences in the general data between them preoperatively (P ＞ 0.05).The 51 patients were followed up for 10 to 32 months (average,20 months).The rate of dislocation in the incision and microscopic groups were 0 and 8.7％ (2/23),respectively.There were no such complications in either group as patellar fracture,deep venous thrombosis of the lower extremity or limited joint extension or flexion.The last follow-ups revealed that no patients in either group were inflicted with patellofemoral re-dislocation.In the incision group,the patella extensibility,patellar tilt angle,Kujala score and Lysholm score were,respectively,19.65％ ± 0.75％,12.39°±0.76°,56.37 ±2.94 points and 51.64 ±6.22 points preoperatively,and 10.34％ ± 0.60％,8.83°±0.89°,92.68 ±2.75,and 90.71 ± 1.91 points postoperatively;in the microscopic group,the patella extensibility,patellar tilt angle,Kujala score and Lysholm score were,respectively,19.56％ ±0.62％,12.35° ± 0.66°,57.46 ± 3.08 points and 52.20 ± 6.94 points preoperatively,and 10.24％ ±0.66％,8.78° ± 0.92°,92.53 ± 3.32 points and 90.41 ± 2.90 points postoperatively.There were significant differences between the preoperative and postoperative values in both 2 groups (P ＜ 0.05).However,there were no significant differences between the preoperative and the postoperative values in trochlear groove angle or TT-TG in either group (P ＞ 0.05).There were no significant differences between the 2 groups in all the above preoperative and postoperative values (P ＞ 0.05).Conclusion In MPFL-R for recurrent patellofemoral dislocation,both LRR via a prolonged incision and arthroscopic LRR can improve the patellofemoral joint alignment and stability of the tibia,leading to good short-term outcomes.