Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene. Subsequently, potential mutation was screened from all exons of the APC gene with PCR amplification and direct sequencing.</p><p><b>RESULTS</b>Germline mutations have been identified in 5 FAP pedigrees, which included c.3184_3187delCAAA, c.5432C>T, c.3925_3928delAAAA and c.3925_3929del AAAAG(in two pedigrees). Small deletional mutations were found primarily in the area of AAAAG tandem repeat sequences.</p><p><b>CONCLUSION</b>C.3925_3929 located in AAAAG tandem repeats is probably the hot spot for APC gene mutations, which are mostly deletional mutations, especially the 5 bp base deletion at codon 1309.</p>

Influence of pelvic obliquity in lateral position to acetabular component orientation during total hip arthroplasty / 中华骨科杂志

Objective To explore the influence of pelvis obliquity in lateral position to acetabular component orientation during total hip arthroplasty (THA),and the method to correct.Methods Fifty patients (62 hips) were performed THA with posterolateral incision in lateral position by the same team.The patients were randomized and divided into experimental group (EX,with 25 cases,34 hips) and control group (CON,with 25 cases,28 hips).In EX group,the acetabular components were placed by means of the gradienter and plumb correcting technique during THA.While in CON group,the acetabular components were placed by traditional method during THA.The acetabular abduction angles were measured postoperatively,and compared between the two groups.Results The average obliquity of pelvis was-1.647°±4.512°in EX group when putting the patient in lateral position before correcting.Through the application of gradienter and plumb,the average abduction angle of acetabular component was 42.685°±3.355° postoperatively,with the difference of 1.962°±1.515° compared with the preoperative angles.And in CON group,the average abduction angle of acetabular component was 44.534°±4.844° postoperatively,with the difference of 4.244°±3.042°.The difference of abduction angle in CON group was much higher than that in EX group (P＜0.05).Conclusion The pelvic obliquity when putting the patient under lateral position will affect the surgeons'judgments of placing acetabular component during THA,furthermore,lead to inconsistency among the abduction angles obtained preoperatively,intraoperatively and postoperatively.By applying the correcting method with gradienter and plumb,the discrepancy can reduce obviously between the abduction angle measured postoperatively and that of measured during operation comparing with traditional method.

Reconstruction of acetabular bone defect by using bone grafting combining with titanium mesh and/or reinforcement cup in total hip arthroplasty / 中华骨科杂志

Objective To evaluate effect of bone grafting combining with titanium mesh and/or reinforcement cup in reconstruction of acetabular bone defect in total hip arthroplasty (THA).Methods From January 2008 to November 2011,32 patients,including 23 males and 9 females,aged from 51 to 76 years (average,66 years),underwent THA with acetabular defect reconstruction by using bone grafting combining with titanium mesh and/or reinforcement cup.There were 6 cases of primary THA and 26 cases of revision THA.Twelve cases (Paprosky Ⅱ B) and 7 cases (Paprosky Ⅱ C) underwent impaction bone grafting with titanium mesh; 6 cases (Paprosky Ⅱ C) underwent impaction bone grafting with reinforcement cup; 6 cases (Paprosky Ⅲ A) underwent impaction bone grafting and structural bone grafting with winged reinforcement cup; 1 case (Paprosky Ⅲ A) underwent double-layer impaction bone grafting with titanium mesh and reinforcement cup.Harris score and Gill classification were used to evaluate clinical and radiological results,respectively.Results All cases (32 hips) were followed up for an average of 22 months (range,12 to 25months).One year postoperatively,Harris score improved from preoperative 44.00±11.71 to postoperative 78.41 ±9.32.Twenty-four cases were excellent,4 good,4 fair,and the excellent and good rate was 87.5％.Three cases occurred mild displacement of acetabular rotation center; one case occurred dislocation.There was no loosing,subsidence,and bone resorption in other 28 cases at final follow-up.ConcLusion Bone grafting with titanium mesh and/or reinforcement cup is effective in reconstruction of acetabular bone defect in THA,which can improve the stability of acetabular cup.

Identification of the regulation elements in heat-inducible Lehsp23.8 promoter / 生物工程学报

The promoter of mitochondria-localized small heat shock protein gene in Lycopersicon esculentum (Lehsp23.8) is characterized as strongly heat-inducible. In this study, to determine how the expression of Lehsp23.8 is regulated, we conducted five expression vectors carrying the gus gene driven by the 5' deletion products of the Lehsp23.8 promoter. The corresponding transgenic tobacco plants were generated via Agrobacterium tumefaciens-mediated transformation. Transgenic plants were identified by PCR and Southern blotting analysis. GUS activities under heat-shock conditions were characterized in transgenic tobacco plants. After heat shock, obvious GUS staining was detected in the leaves, shoots, roots, flowers and fruits of the transgenic tobacco plants. The result of fluorometric GUS assays in leaves showed that the heat-induced GUS activity of the 565 bp promoter was the strongest, while that of the 255 bp promoter was the lowest. Deletion analysis shows that the smallest promoter fragment (-255 bp to -23 bp) is sufficient for heat induction. It also indicates that the sequences between -255 bp and -565 bp serve as enhancers, while the sequences between -565 bp and -871 bp can repress the heat-induced activity of the Lehsp23.8 promoter.

Functional reconstruction in ankylosing spondylitis patients with bilateral hips and knees bony ankylosis / 中国矫形外科杂志

Objective To investigate the feasibility,operation design and postoperative rehabilitation in ankylosing spondylitis patients with bilateral hips and knees bony ankylosis,who were operated on the 4 joints during one hospitalization period. Method Two operations were performed in one hospitalization period in three ankylosing spondylitis patients on the 2 hip joints and 2 knee joints respectively.One case,the left hip replacement was operated in the first operation,and the right hip and the double knees were operated in the second operation;the other two cases,unilateral hip and knee were operated in two operations respectively.Patients began to contract their lower limbs’ muscles initiatively after narcosis.The limbs were put on the CPM,the hips and knees were bent and extended repeatedly on the third day after operations.The patients began to leave bed and learned to walk 2 weeks after operations.They could walk 100 steps with aids when they leaft hospital. Result In six-month follow-up,the range of hip motion(degree)were 105?~145?(average 135?);the range of knee motion(degree)was 45?~60?(average 54?).The hip’ function score adopted Harris score system:the average of 83 and were all good;the knee’ function score adopted American Association of Knee Surgery score system in 1989:all were excellent except a good one(left knee of first case,the score was 74/75). Conclusion Performing operations on the 2 bony ankylosis hips and 2 bony ankylosis knees in the ankylosing spondylitis patients in one hospitalization period can shorten the treatment cycle,release the distress,and lighten the economic load,meanwhile it is convenient for operation and postoperative rehabilitation.It is better to do the unilateral hip and knee in a single operation.

Protective effects of nifedipine on endothelial cells in spontaneously hypertensive rats / 中国组织工程研究

BACKGROUND: Research has proved that nifedipine can improve the functions of vascular endothelial cells. However, it still needs further study on its mechanism on dilating vessels.OBJECTIVE: To observe the effects of controlled-release nifedipine to nitrogen monoxide(NO) and induced nitric oxide synthase(iNOS) in spontaneously hypertensive rats(SHR).DESIGN: Comparative observational study based on experimental animals.SETTING: Experimental animal centre in a medical college.MATERIALS: This study was completed in Experimental Animal Centre of Shandong University during April to May 2002. Twenty-one recombinant inbred rats of clean class with body mass of(300 ± 2) grams were provided by Experimental Animal Centre of Shandong University. They were randomly divided into three groups: control group, normal group and low dose group,each with 7 rats.METHODS: Saline(10 mL/kg), 10 mL/kg and 3 mL/kg controlled-release nifedipine solution(0. 3 g/L) were poured into stomach to rats in control group, normal dose group and low dose group once everyday for 15 days respectively. Eyeball was removed to collect blood and heart and lung were removed at the same time to test the content of NO and iNOS in serum after last administration.MAIN OUTCOME MEASURES: Content of NO, comparison of iNOS activity between groups.RESULTS: There was significant difference on NO content between normal dose group and control group, low dose group after 15 days' administration ( P < 0. 01 ) . Compared with control group and low dose group, there was significant difference on the iNOS activity in heart and lung of normal dose group(P <0.01, P <0.05).CONCLUSION: While nifedipine reduces the blood pressure, it can also improve the content of NO and resist the increasing activity of iNOS casued by increased blood pressure.

Differential expression of genes in endothelial cells induced by mildly modified low density lipoprotein / 中国组织工程研究

BACKGROUND: It is indicated in research that mildly modified low density lipoprotein (mm-LDL) is related to atherogenesis and it not only stores LDL and provides very strong biological activity, but also expresses many kinds of bioactive substances, like macrophage colony stimulating factor (MCSF) induced in cell culture and in animal body.OBJECTIVE: Differential display-PCR (DD-PCR) technique is used to study the genetic expressed difference in mm-LDL inducing vascular endothelial cells so as to lay the foundation for further explanation of the relationship between mm-LDL and arteriosclerosis.DESIGN: Repeated measurement was designed.SETTING: Taishan Medical College.MATERIALS: The experiment was performed in Basic Institute of Taishan Medical College from July 2003 to July 2004. Medium of human umbilical vein endothelial cells (HUVECs) was M199. Culture was done at 37 ℃, in 50 mL/L CO2. When cells grew to the fusion state, mm-LDL was added in the medium to the terminal concentration of 400 mg/L and then,induction was followed in 30 hours.METHODS: DD- reverse transcription (RT)-PCR technique was used to analyze genetic expression difference of human vascular endothelial cells induced with mm-LDL and reverse Northern analysis was performed to testify DD genetic fragments.mRNA in liver of mice.RESULTS: Human vascular endothelial cells induced with inm-LDL displayed some up and down-regulated genetic fragments. Up-regulated genes included thymosin 34, FGFRI protooncogene-chaperone protein, FK506 binding protein, rTSβ protein and intercellular adhesion molecule-1 (Ⅰ-CAM-1). Down-regulated genes included Apo bec-1 binding protein-l, cytochromeB561 and ERP72.CONCLUSION: DDRT-PCR testifies that mm-LDL induces changes of some genetic expression of human umbilicus vein endothelial cells in vitro and pathological changes of mm-LDL vascular endothelial cells, terminally results in atherogenesis.

THE EXPERIMENTAL STUDY OF STRESS FRACTURE OF THE METATARSAL BONES IN NORMAL CHINESE ADULTS / 中国运动医学杂志

The stress fracture is often resulted from forced march, heel-and-toe walking race, trudge over a longdistance etc. The stress fracture in metatarsal bone is very common. After analysis of bearing-force onmetatarsal bone, the feet are simplified as weight-bearing-cantilever beam structure, while the metatarsalbone as lever units which support the bending cantilever. 16 metatarsal bones were taken from freshcadavers of normal Chinese adults. TYPE 2H cantilever stress teeting machine was used for the experiment.This study analyzes the injury mechanism of stress fracture theoretically, the defines limit of stress fractureof the metatarsal bone, and makes biomechanical analysis for the fracture types. This experiment providesthe data and materials for prevention and diagnosis of stress fracture and the possibility of methods andpaths for stress fracture experiment of the biomaterials.