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Objective: To evaluate the effect of trifoliate flap design of radial forearm flap in reconstruction of defects after mouth floor cancer resection. Methods: From June 2016 to December 2019, 12 patients with defect after resection of mouth floor cancer were treated with trifoliate flap design of radial forearm flap. All of these patients were T2 stage, included 9 well-differentiated squamous cell carcinoma (SCC) and 3 moderate differentiated SCC. The defect size ranged from 8.0 cm×6.0 cm to 5.0 cm×4.5 cm after resection of tumor and neck dissection. All defects were repaired with trifoliate flap design of radial forearm flap. The flap size ranged from 8.0 cm×2.0 cm to 4.0 cm×1.5 cm, the donor site was sutured directly on Z plasty. Results: All flaps completely survived well. Both the wound and the donor site were stage Ⅰ healing. With the average follow-up of 38.6 months, the swallowing and speech function were satisfactory. Conclusions: Trifoliate flap design of radial forearm flap can effectively repair the postoperative defect of mouth floor cancer, and the donor site can be directly sutured on Z plasty. This technique can avoid forearm scar caused by skin grafting and the formation of the second donor site.
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Humains , Avant-bras/chirurgie , Plancher de la bouche , Tumeurs , 33584/méthodes , Transplantation de peau , Lambeaux chirurgicaux , Résultat thérapeutiqueRÉSUMÉ
As people age, the population of the elderly increases rapidly. With the change of work and lifestyle, the problems such as reduced physical activity and irregular routine become more serious, which results in the significantly increased incidence of skeletal muscle atrophy, and reduced health status and life quality of elderly. At the same time, the imbalance of diets, the decrease of physical activity, and the fluctuation of hormone levels further aggravate the occurrence of skeletal muscle atrophy, and its pathological mechanisms mainly correlated with chronic inflammation, mitochondrial dysfunction, deficient autophagy, increased apoptosis, impaired muscle satellite cell function, and disrupted circadian rhythm. Skeletal muscles, as the largest peripheral biological clock of the body, can affect the fiber structure, mitochondrial function, and muscle mass of skeletal muscles by regulating the circadian core genes BMAL1 and CLOCK. As an important intervention strategy to improve skeletal muscle masses, exercise can also activate the circadian signal pathway and regulate its phase, thus improving muscle regeneration and muscle strengths and delaying muscle atrophy. Therefore, from the perspective of circadian rhythm, this article summarizes the occurrence of muscular atrophy and the molecular mechanism of potential exercise intervention to provide new ideas for the targeted regulation of the prevention, treatment, and rehabilitation of muscular atrophy.
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Objective@#To explore the influence of birthweight and delivery mode on overweight/obesity and abdominal obesity in primary school students, and to provide evidence for childhood obesity prevention.@*Methods@#After physical examination, questionnaire survey was conducted among 3 361 students and their parents from 3 primary schools in Guangzhou selected through stratified clustering sampling. Information about birthweight and delivery mode was collected. Logistic regression model was used to analyze the association of birthweight and delivery mode with overweight/obesity and abdominal obesity. The multiplicative interaction term and the Delta method was used to explore the potential interaction.@*Results@#The prevalence rate of overweight and obesity for primary school students was 21.33%, and the rate of abdominal obesity was 12.08%. Multivariate Logistic regression analysis showed that delivery by cesarean section was associated with 44% increased risk of overweight/obesity(OR=1.44, 95%CI=1.16-1.80), as compared to vaginal delivery. Higher birthweight was linked to increased risk of overweight/obesity(OR=1.62, 95%CI=1.09-2.42). There was no significant association of birth weight and delivery mode with abdominal obesity in multivariate analysis(P>0.05). Additionally, a positive additive interaction was seen between delivery mode and parental obesity for students risk of overweight/obesity(RERI=0.33, 95%CI=0.02-0.65), as well as for the risk of abdominal obesity(RERI=0.39, 95%CI=0.12-0.65).@*Conclusion@#Cesarean section delivery and higher birthweight are linked to increased risk of overweight and obesity in primary school students. The synergistic effect of cesarean section and parental obesity may increase the risk of childhood obesity.
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Aim To evaluate the protective effect of Averrhoa Carambola L. Roots DMDD alleviating myocardial injury in diabetes mellitus (DM) mice and its mechanism. Methods SD mice were given high-glucose-high-fat diet combined with streptozotocin to induce DM model, and were administered with DMDD. The fasting blood glucose (FBG) was recorded. The left ventricular end-diastolic pressure (LVEDP), left ventricular systolic pressure (LVSP), maximum upstroke velocity of left ventricular pressure (+ dp/dt
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OBJECTIVE@#To study the clinical characteristics of the patients with tiny lumbar disc herniation and severe symptoms(tLDHSS) and the therapeutic effects of percutaneous endoscopic lumbar discectomy(PELD).@*METHODS@#From January 2014 to February 2019, 34 patients with tLDHSS were reviewed retrospectively, including 20 males and 14 females, aged from 31 to 73 (48.8±10.1) years, with a follow up duration ranged from 8 to 48 (21.8±10.3) months. The clinical manifestations, imaging and surgical data were analyzed. The visual analogue scale (VAS) and Oswestry Disability Index (ODI) scores were analyzed before operation, 1 month after operation and at the latest follow-up. The preoperative and postoperativescores were compared. At the latest follow up, the Macnab system was used to evaluate the effects of the operation.@*RESULTS@#The main symptom of 34 cases was severe radiation pain on one side of lower limbs. The duration of preoperative symptoms ranged from 0.33 to 84 months. The disc herniation was found in 7 cases of L and 27 cases of LS. According to the MSU division of lumbar disc herniation, 31 cases were located in area B. In all cases, it was confirmed that the protruding nucleus compressed the nerve root, and in 26 cases, the nerve root was obviously inflamed. The operation time ranged from 30 to 80 min, with a mean time of (43.5±9.5) min. The preoperative VAS score was 8.1±1.3 and ODI score was 31.8±6.7. And the VAS score was 1.1± 0.3, 0.7±0.4 on the first month after operation and the latest follow up, respectively. The ODI score was 5.3±2.1 and 0 to 10 (with a median score of 2) on the first month after operation and the latest follow-up respectively. The postoperative VAS and ODI scores were improved compared with preoperative scores.At the latest follow up, 28 cases got an excellent result and 6 cases good according to Macnab evaluation system. During the follow-up period, only one patient had recurrent disc herniation.@*CONCLUSION@#The main symptom of patients with tLDHSS is severe radiation pain on one side of lower limb. It manifests as sudden onset and shorter course of disease. Severe local inflammation was induced by local compression of the protruding nucleus pulposus on the nerve root out of the dura. For this kind of patients, thin layer CT scan has an important diagnostic value. In the treatment of this kind of patients, the symptoms are relieved rapidly, the curative effect is definite and the recurrence rate is low.
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Adulte , Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Discectomie percutanée , Endoscopie , Déplacement de disque intervertébral , Membre inférieur , Vertèbres lombales , Douleur , Études rétrospectives , Résultat thérapeutiqueRÉSUMÉ
<p><b>OBJECTIVE</b>To analyze the complications of lumbar intervertebral disc herniation treated with percutaneous endoscopic lumbar discectomy(PELD), and discuss how to avoid these complications.</p><p><b>METHODS</b>The data of 132 patients with lumbar intervertebral disc herniation underwent PELD from October 2013 and June 2015 were retrospectively analyzed, including 85 males and 47 females with an average age of 42.9 years old. There were 6 cases of L₃,₄, 68 of L₄,₅ and 58 of L₅S₁. The incidences of intraoperative and postoperative complications were analyzed.</p><p><b>RESULTS</b>There was spinal dura mater injury in 1 patient, but no cerebrospinal fluid leakage and nerve function deficit was found, the muscle strength did not decrease postoperatively and the incision healed well. Two patients converted to open surgery ultimately because of stenosis of the intervertebral foramen and adhesion between nucleus pulposus and spinal dura mater; two patients complicated with early recurrence(in 3 months);nucleus pulposus residue developed in 3 patients; all of them were treated by open surgery and got satisfactory results. One patient with heart disease history complicated with supraventricular tachycardia after surgery and 2 patients with the increased cerebrospinal fluid pressure during surgery.</p><p><b>CONCLUSIONS</b>PELD have a steep learning curve, and the technology is a safe and effective method in treating lumbar disc herniation, but the beginners must have enough open surgery experience, and to grasp indications strictly.</p>
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Objective To study neutral particle particle(NEUT-X)change in the solid tumor patients with chemotherapy by granulocyte colony-stimulating factor(G-CSF).Methods Chose that 52 cases of cancer chemotherapy with G-CSF(study group),32 cases of cancer chemotherapy patients without G-CSF(study control group)and 50 cases of healthy(healthy control group).The automatic hematology analyzer Sysmex XE-2100 were been examined the peripheral blood routine and collected the data which wes the morphological parameters of peripheral white blood cell.The changes of neutrophil N-X pa-rameters during chemotherapy were analyzed,and the clinical infection fever rates of three groups were collected to reveal the relationship between leukocyte morphological parameters and body resistance.Results In the study group,study control group and healthy control group,the NEUT-X was 1 324(890.2,1 358.0),1 440(1 397.3,1 466.3)and 1 329(1 295.1, 1 359.4),and the difference was statistically significant between the three groups(F=10.778,P=0.002).In study group, the count of WBC before and after G-CSF was 0.99(0.22,1.75)×109/L and 7.53(1.00,14.05)×109/L respitively and there was the significant difference(Z=-2.395,P=0.005).In study group patients the NEUT-X was 1 382(1 323.6,1 440.4)and 1 324(890.2,1 358.0)respectively and there was a significant difference(Z=-2.832,P=0.004).Between the study group and the study control group,there were 23/52 cases and 4/32 cases infection in patients with fever case(Z=9.14,P=0.002).Conclusion By G-CSF the leukocyte counts increased in patients with chemotherapy,and reduced neu-trophil NEUT-X parameters,and the infection rate was higher than the non G-CSF patients.The neutrophil granularity will be useful for evaluating of patients with chemotherapy for solid tumor immunity.
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<p><b>OBJECTIVE</b>To investigate the effects of inhaled short-acting bronchodilators on diaphragm function and neural respiratory drive in patients with chronic obstructive pulmonary disease (COPD) during maximal isocapnic ventilation (MIV).</p><p><b>METHODS</b>Forty-seven patient with moderate to severe COPD were randomized into 4 groups: placebo group (n=12), salbutamol group (n=13), ipratropium group (n=10), and combined group (salbutamol and ipratropium, n=12). Each subject received an initial MIV for 3 min at baseline and inhaled placebo (400 µg), salbutamol (400 µg), ipratropium (80 µg), or both salbutamol and ipratropium, followed 30 min later by another 3 min of MIV. The parameters of diaphragm function and neural respiratory drive were monitored continuously and calculated during MIV.</p><p><b>RESULTS</b>During the initial MIV, all the patients experienced a linear increase in root mean square (RMS) of diaphragm electromyogram with a gradual decrease in transdiaphragmatic pressure (Pdi), minute ventilation (VE), and VE/RMS, and these parameters all improved significantly after inhalation of the bronchodilators. Compared with the placebo group at the same time point, the 3 bronchodilator-treated groups showed significantly decreased RMS and Borg score and increased Pdi, VE and VE/RMS; VE/RMS was the highest in the combined treatment group (P<0.05). The Delta Borg was significantly correlated with Delta Pdi, Delta VE, Delta RMS, and Delta VE/RMS (P<0.05).</p><p><b>CONCLUSIONS</b>In COPD patients, inhaled short-acting bronchodilators can alleviate diaphragm fatigue during MIV, increase lung ventilation, reduce neural respiratory drive, and improve neuro-ventilatory coupling to relieve dyspnoea, and the combination of β-2 agonists and anti-muscarinic antagonists produces a stronger efficacy.</p>
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Humains , Administration par inhalation , Salbutamol , Utilisations thérapeutiques , Bronchodilatateurs , Utilisations thérapeutiques , Muscle diaphragme , Ipratropium , Utilisations thérapeutiques , Broncho-pneumopathie chronique obstructive , Traitement médicamenteux , RespirationRÉSUMÉ
<p><b>OBJECTIVE</b>To explore the correlation among prevertebral hyperintensity (PVH), sagittal canal diameter on MRI and neurologic function of patients after cervical vertebral hyperextension injury without fracture and dislocation.</p><p><b>METHODS</b>The clinical data of 100 patients with cervical vertebral hyperextension injury without fracture and dislocation were retrospectively analyzed from September 2010 to December 2013. The patients were divided into PVH group and non-PVH group according to the presence of PVH on T2-weighted magnetic resonance imaging. There were 39 patients in PVH group, including 31 males and 8 females, aged from 21 to 83 years old with an average of (58.10 ± 14.78) years; and the other 69 patients in non-PVH group, including 49 males and 12 females, aged from 32 to 77 years old with an average of (55.05 ± 10.36) years. The sagittal disc level canal diameters of subaxial cervical spine were measured on mid-sagittal magnetic resonance imaging. The age, sex, cause of injury, and the segments of spinal stenosis were recorded. American Spinal Injury Association (ASIA) impairment scale and motor score were used to evaluate the neurological status.</p><p><b>RESULTS</b>The ASIA motor score of the group with PVH was 52.56 ± 31.97 while the ASIA motor score was 67.70 ± 22.83 in non-PVH group (P = 0.013). More patients with intramedullary hyperintensity signal on MRI were observed in the PVH group than in non-PVH group (P = 0.006). There was a significant positive correlation between ASIA motor score and sagittal disc level canal diameter of injury segment (P = 0.003). The neurological status was worse in patients with multi-level sagittal canal diameters below 8 mm.</p><p><b>CONCLUSION</b>The PVH and the disc-level canal sagittal diameter of the injury segment are associated with neurological status. The patients with multi-level sagittal canal stenosis are vulnerable to severe cervical spinal cord injury.</p>
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Adulte , Sujet âgé , Sujet âgé de 80 ans ou plus , Femelle , Humains , Mâle , Adulte d'âge moyen , Vertèbres cervicales , Plaies et blessures , Imagerie par résonance magnétique , Études rétrospectives , Canal vertébral , Anatomopathologie , Traumatismes de la moelle épinière , AnatomopathologieRÉSUMÉ
Objective To know about recent experience of the quality control of blood clotting,to analyze the reasons for its out-of-control,and then to explore the influencing factors of coagulation tests.Methods According to the testing standards of coagula-tion quality control products of Clinical Laboratory Center,Ministry of Health,each batch of products were taken standardized tests.The external quality control results of blood clotting from 2009 to 2013 were analyzed and counted up combined with the in-ternal quality control and daily work performance.Results The overall performance of external quality control was good (from 2009 to 2013).The total scores in 2009 were 90%,95%,were 100% and 100% in 2010,were 95% and 95% in 2011,were 100%and 85% in 2012,and were 100% and 100% in 2013.Conclusion Laboratory internal quality control should be guaranteed.The quality control of pre-analysis,post and analysis and analysis-in-course can improve clinical coagulation testing quality.
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<p><b>OBJECTIVE</b>To investigate the efficacy of hematopoietic stem cell (HSC) transplantation via the hepatic artery vs. the portal vein for end-stage liver disease (ESLD).</p><p><b>METHODS</b>Patients with hepatic decompensation were prospectively recruited from September 2010 to September 2012 to receive HSC transplantation via the hepatic artery or the portal vein. Liver function was examined at 3, 6, and 12 months after transplantation. Liver biopsy Results were analyzed using the Knodell score.</p><p><b>RESULTS</b>Eighty patients (58 males and 22 females) were enrolled in the study. The Child-Pugh score was grade B in 69 cases, and grade C in the remaining 11 cases. HSC transplantation was performed via the portal vein in 36 patients and via the hepatic artery in 44 patients. ALT levels decreased while serum albumin levels increased significantly in both groups at 6 and 12 months after HSC transplantation (P<0.05 compared with pre-transplantation levels). Total bilirubin levels decreased significantly in both groups at 3, 6, and 12 months after HSC transplantation (P<0.05 compared with pre-transplantation levels). Additionally, prothrombin time decreased in both groups at 12 months after HSC transplantation (P<0.05 compared with pre-transplantation level). There were no significant differences in ALT, total bilirubin and prothrombin time between the two groups either before or after transplantation. Moreover, Knodell score decreased significantly at 6 and 12 months. Histological examination showed that liver cell edema, degeneration, necrosis, and inflammation were significantly relieved at 3, 6, and 12 months after transplantation. The incidence of portal vein thrombosis, upper gastrointestinal bleeding, and hepatic encephalopathy were 1.25%, 3.75%, and 2.5% respectively. The one-year survival rate was 100%.</p><p><b>CONCLUSIONS</b>Autologous HSC transplantation improves liver function and histology in ESLD patients. The administration route of HSC has no significant impact on the efficacy of transplantation.</p>
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Adulte , Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Survie sans rechute , Maladie du foie en phase terminale , Anatomopathologie , Thérapeutique , Transplantation de cellules souches hématopoïétiques , Méthodes , Artère hépatique , Perfusions artérielles , Perfusions veineuses , Tests de la fonction hépatique , Veine porte , Études prospectives , Résultat thérapeutiqueRÉSUMÉ
<p><b>OBJECTIVE</b>To explore the dynamic change and clinical efficacy of acupuncture at Sifeng (EX-UE 10) on appetite regulating factors in the serum of infantile anorexia.</p><p><b>METHODS</b>Eighty cases, in compliance with the diagnostic criteria, aged from 3 to 6 years were randomized into an acupuncture group and a medication group, 40 cases in each one. Additionally, a healthy control group (30 cases) was set up. In the acupuncture group, the pricking method was adopted at Sifeng (EX-UE 10) with the three-edged needle. A few light yellow, transparent viscous liquid or blood was squeezed out after pricking. The treatment was given once a week, for 4 weeks totally. In the medication group, erkangning syrup was administered, 3 times a day, for 4 weeks totally. The ghrelin, leptin and neuropeptide Y (NPY), and the clinical efficacy were observed before and after treatment in each group.</p><p><b>RESULTS</b>The levels of ghrelin and NPY before treatment in acupuncture group and the medication group were lower apparently than those in the healthy control group (all P < 0.01), but the level of leptin was higher appa-rently than that in the healthy control group (P < 0.01). After treatment, the levels of ghrelin and NPY were higher apparently than those before treatment in the acupuncture group (both P < 0.01), and the level of leptin was lower apparently than that before treatment (P < 0.01). All of the above indices in the acupuncture group were improved obviously after treatment as compared with those in the medication group (all P < 0.01). The remarkable and effective rate were 82.5% (33/40) and 32.5% (13/40) and the total effective rate were 95.0% (38/40) and 45.0% (18/40) in the acupuncture group and medication group separately, the results in the acupuncture group were superior to the medication group (both P < 0.01).</p><p><b>CONCLUSION</b>Acupuncture at Sifeng (EX-UE 10) effectively promotes the secretion of ghrelin and NPY and inhibit leptin. It effectively promotes appetite for the children and the efficacy is superior to erkangning syrup.</p>
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Enfant d'âge préscolaire , Femelle , Humains , Mâle , Points d'acupuncture , Thérapie par acupuncture , Anorexie , Sang , Thérapeutique , Appétit , Ghréline , Sang , Leptine , Sang , Neuropeptide Y , Sang , Résultat thérapeutiqueRÉSUMÉ
<p><b>BACKGROUND</b>Celastrol is a major active component of Tripterygium wilfordii named "Thunder God Vine", which is widely used to treat rheumatoid arthritis in China. The present study aims to demonstrate that celastrol has potent anticancer activity against glioma in vitro and in vivo.</p><p><b>METHODS</b>Proliferation, migration, and tube formation of ECV-304 cells were determined by MTT and matrigel assays. The antiangiogenesis effect of celastrol was assessed by the chick chorioallantoic membrane assay and the in vivo matrigel plug assay. Tumor microvessels (MVD) were determined immunohistochemically with anti-CD34 antibody. Vascular endothelial growth factor (VEGF) expression was defined as positive if distinct staining of the cytoplasm was observed in at least 10% of tumor cells at the deepest invasive site, central portion and superficial part of the tumor. MVD was estimated by averaging the counts of three times at a x 200 field in the most vascularized area of the deepest invasive site.</p><p><b>RESULTS</b>Celastrol purified from T. wilfordii inhibited the proliferation of vascular endothelial cells (ECV-304) with an IC50 value of 1.33 microg/ml. Celastrol, at the concentration of 0.2 microg/ml, significantly inhibited cell migration and tube formation. Celastrol inhibited angiogenesis in a dose-dependent manner both in vitro and in vivo. Subcutaneous administration of celastrol 5 days a week for 4 consecutive weeks significantly reduced tumor volume in a dose-dependent manner in the SHG-44 xenograft model. Celastrol at each different dose level lowered the density of MVD significantly in tumor bearing nude mice compared to the control group. Immunohistochemistry experiments further revealed that celastrol also decreased the level of VEGFR-1 and VEGFR-2 expression, but not the level of VEGF expression.</p><p><b>CONCLUSIONS</b>Celastrol elicits antiangiogenic effects in vitro and in vivo, and could be of potential use in the treatment of malignant cancers such as glioblastoma.</p>
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Animaux , Embryon de poulet , Femelle , Humains , Souris , Inhibiteurs de l'angiogenèse , Pharmacologie , Lignée cellulaire tumorale , Mouvement cellulaire , Prolifération cellulaire , Poulets , Chorioallantoïde , Gliome , Traitement médicamenteux , Métabolisme , Immunohistochimie , Souris de lignée BALB C , Souris nude , Microvaisseaux , Triterpènes , Pharmacologie , Facteur de croissance endothéliale vasculaire de type A , Métabolisme , Récepteur-1 au facteur croissance endothéliale vasculaire , Métabolisme , Récepteur-2 au facteur croissance endothéliale vasculaire , Métabolisme , Tests d'activité antitumorale sur modèle de xénogreffeRÉSUMÉ
Objective To explore the clinic effects in duplication blepharoplasty with the multiple tiny inci- sions.Methods The line of drooping blepharon was set in routine in 183 patients,the incisions with 3~4mm long would be made in middle and the both canthi sides on the line,cutting 1.5~2mm long flaps of the muscle orbicularis oculi off in the down rim of the incisions.Excessive fats also released form the orbital septum in patients with swelling blepharon.Then put up the muscle tendon of blepharon and sutured with the slcin on the up rim of tarsal plate.Results The reaction of tissue after operation was very light,swelling in the incision could disappear after 7~23 days and the incision scars weretiny and unclear,tbe double-fold eyelids had a good appearance in long time.Con- clusion It is an effective and usable procedure to the patients without skin loosening or serious swelling blepharon by means of multiple tiny incisions in blepharoplasty.
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<p><b>OBJECTIVE</b>To study the inhibition effect of celastrol on neovascularization.</p><p><b>METHODS</b>The effect of celastrol on the in vitro proliferation of endothelial cell of vessel (ECV) was examined by MTT assay. The effect of celastrol on endothelial cell migration, tube formation on Matrigel and Chick chorioallantoic membrane angiogenesis was also examined. Matrigel plug assay was used to evaluate the effect of celastrol on angiogenesis in vivo.</p><p><b>RESULTS</b>The proliferation of ECV was inhibited significantly by celastrol with IC(50) being 1.33 microg/ml. Celastrol inhibited endothelial cell migration and tube formation in a dose-dependent manner. Celastrol also inhibited angiogenesis both in Matrigel plug of mouse model and in chick chorioallantoic membranes.</p><p><b>CONCLUSION</b>Celastrol, which can inhibit angiogenesis, could be developed as an antiangiogenic drug.</p>
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Animaux , Souris , Inhibiteurs de l'angiogenèse , Pharmacologie , Cellules endothéliales , Souris de lignée BALB C , Triterpènes , PharmacologieRÉSUMÉ
Objective To investigate the phenotypes and genotypes of a hereditary protein C(PC) deficiency pedigree.Methods Imrnunoassay(ELISA)was used for PC antigen and PS antigen; Immunoturbidimetry assay was used for measuring AT antigen;Chromogenic substrate assay was used for measuring the activity of PC,PS and AT in Sysmex 1500 automatic Blood Coagulation Analyzer.Polymerase chain reaction(PCR)for amplification of the fragment of each exon and side sequences of PC gene in 10 members of the 3 generations;Direct DNA sequencing was used to examine the mutation site.Results Among 10 members of the 3 generation pedigree,8 of them had a PC:Ag level of 1.06-1.92 mg/L(normal references 3.00-6.00 rag/L),the activity of PC was between 41% and 67%(normal references 70%- 140%),which was significantly lower than the normal references while the levels of PS:Ag,PS:A,AT:Ag and AT:A were all within normal range.DNA sequencing analysis showed that there was a G to T mutation in exon IX of the PC gene at 12 918 position in 8 members.This mutation resulted in the substitution of terminator TGA for TGG which encoding tryptophan at 372 amino acid.There was a polymorphism in 2 405C/ T,2 418A/G,2 583A/T in the promotor area.Conclusions This pedigree is a type I hereditary protein C deficiency.There is a G12 918T mutation in exon IX of PC gene.This mutation is reported for the first time and there is a polymorphism in 2 405C/T,2 418A/G,2 583A/T in the promotor area.