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Aim To explore the material basis of anti-tumor effect of Compound Muji Granules. Methods The anti-tumor pharmacodynamics of Compound Muji Granules in vitro was studied by microfluidic chip technology. The fingerprint of Compound Muji Granules was established by HPLC. The "Spectrum-Material-Effect" of Compound Muji Granules was analyzed by grey correlation analysis,partial least squares regression analysis and network pharmacology approach. Results Seven batches of Compound Muji Granules with different extraction methods were successfully established. The results of grey correlation analysis showed that there was a positive correlation between Compound Muji Granules and 7 of the 14 components with pharmacodynamic correlation coefficient >0.80. The contribution of anti liver tumor was peak number 48(luteolin)>6(gallic acid)>19(chlorogenic acid)>59(quercetin)>67(kaempferol)>65(naringin)>38(ellagic acid),in that order. Conclusions Through the establishment of "Spectrum-Material-Effect" research method,it is clear that the above seven active monomers may be the anti-tumor material basis of Compound Muji Granules.
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Objective:To evaluate the efficacy of arch-clamping technique in Sun’s procedure to repair acute type A aortic dissection.Methods:20 consecutive patients[17 males with mean age of (49.7±10.9)years old] with acute type A aortic dissection who underwent total arch replacement and frozen elephant trunk implantation (TAR+ FET) from May 2019 to April 2020 were divided into group with using arch-clamping technique during operation (arch-clamping group) or group without (traditional group). Circulatory arrest time, cardiopulmonary bypass time, recovery time, ventilation time, platelet count during the first 3 days postoperatively, blood loss during the first 12 h postoperatively, death, cerebral infarction and acute renal failure were compared. Patients with advanced age(age>70 years old ), or malperfusion syndrome preoperatively or who did not receiving TAR+ FET surgery were excluded from this study.Results:Circulatory arrest time[(4.1±0.6 )min vs. (17.2±2.6)min, P=0.001] and cardiopulmonary bypass time[(158.4±6.8 )min vs. (198.2±12.6)min, P=0.01] were significantly lower in arch-clamping group, compared with traditional group. Postoperative recovery time[(8.9±2.6 )h vs. (16.0±7.3)h, P=0.94] and ventilation time[(13.6±2.2)h vs. (34.1±14.3)h, P=0.18] were non significantly lower in arch-clamping group. Although postoperative platelet counts were higher in arch-clamping group during the first three days, those difference did not reach statistical significance ( P>0.05). All patients were discharged alive. There was no significant difference among the two group with respect to drainage during the first 12 h postoperatively, death, cerebral infarction and acute renal failure. Conclusion:Arch-clamping technique decrease circulatory arrest time dramatically and provide good protection of brain, coagulation and renal function by shortening ischemia time, thereby reducing postoperative complications. It is a safe and feasible innovative approach to effectively improve surgical outcome of Sun’s procedure for repair of acute type A aortic dissection.
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OBJECTIVE@#To explore the interaction between reactive oxygen species (ROS) and ferroptosis in methylglyoxalinduced injury of mouse embryonic osteoblasts (MC3T3-E1 cells).@*METHODS@#MC3T3-E1 cells were treated with methylglyoxal to establish a cell model of diabetic osteoporosis. CCK-8 assay was used to detect the viability of MC3T3-E1 cells. Rhodamine 123 staining followed by photofluorography was used to examine mitochondrial membrane potential (MMP). The intracellular ROS level was detected by 2', 7'-dichlorodihydrofluorescein diacetate staining with photofluorograph. Alkaline phosphatase (ALP) activity in the cells was detected using an ALP kit, the number of mineralized nodules was determined with alizarin red S staining, and the level of iron ions was detected using a detection kit. The expression level of glutathione peroxidase 4 (GPX4, a marker protein that inhibits ferroptosis) in the osteoblasts was determined using Western blotting.@*RESULTS@#Treatment of MC3T3-E1 cells with 0.6 mmol/L methylglyoxal for 24 h significantly inhibited the expression level of GPX4 (P < 0.001), increased intracellular iron ion concentration, decreased the cell viability, increased the loss of MMP and intracellular ROS level, decreased both ALP activity and the number of mineralized nodules in the cells (P < 0.001). Co-treatment of MC3T3-E1 cells with 2 mmol/L N-acetylcysteine (NAC, a ROS scavenger) and methylglyoxal significantly increased the expression level of GPX4 (P < 0.01); co-treatment with 4 mmo/L FER-1 (a ferroptosis inhibitor) and methylglyoxal obviously decreased the intracellular ROS level (P < 0.001). Co-treatment of the cells either with NAC and methylglyoxal or with FER-1 and methylglyoxal attenuated methylglyoxal-induced injuries in the osteoblasts (P < 0.001).@*CONCLUSION@#The interaction between ROS and ferroptosis pathway plays an important role in methylglyoxal-induced injury of mouse embryonic osteoblasts.
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Animals , Mice , Cell Survival , Ferroptosis , Osteoblasts , Pyruvaldehyde/metabolism , Reactive Oxygen Species/metabolismРеферат
Objective To explore the effects of palliative care consultation on medical professionals who have requested it in Peking Union Medical College Hospital. Methods Semi-structured interviews were conducted with 17 medical professionals who had requested palliative care consultation.Results Palliative care consultation had the following positive effects:building a bridge for doctor-patient communication,providing psychological support to reduce the sense of occupational exhaustion for medical professionals,providing technical support for medical professionals to help patients relieve symptoms,helping medical professionals in the multidisciplinary learning of palliative care,adding humanistic care and neglected ethical concerns.Conclusion Palliative care consultation improves the quality of care for dying patients,and the capacity of consultation needs to be enhanced urgently.
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Humans , Hospitals , Palliative Care , Qualitative Research , Referral and ConsultationРеферат
With the acceleration of the aging in China, the demand of health care for the elderly is increasing, which puts forward higher requirements for the education of geriatric nurses. There is no education system yet to develop geriatric nurse practitioners in China. Therefore, this paper introduces the length of schooling, curriculum contents, cultivation goals, the practice time, sites and main contents, the types and forms of teaching methods, the contents and requirements of course and graduation assessment of the training programs for master's and doctoral students abroad, so as to provide reference for the training of geriatric nurse practitioners in China.
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As the operation volume in hospitals is increasing year by year, surgical instruments are widely used, which pose a great challenge to the daily management of surgical instruments. The authors investigated the existing problems which occurred in the management of surgical instruments, and came out with instruments coding navigation index and specialized placement scheme for the operating room as solutions. The specific measures included dividing sterile items into specialized categories, setting cabinets respectively for specialized and general subjects, building equipment coding and identification, establishing surgical instruments navigation index and carrying out training program, to serve as reference for efficient and fine management of surgical instruments.
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With the use of light at different length and intensities, light therapy can regulate the circadian rhythm of the patients with Alzheimer's disease (AD). This paper reviewed the existing domestic and foreign researches, discovered that light therapy improved the sleep quality, cognitive function, and negative emotions, etc., of AD patients, and attracted more and more people's attention. However, some other studies found that light therapy did not significantly improve the sleep quality and cognitive function of AD patients. The specific mechanism is still unclear, and further studies are needed in the future.
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To study the effect of serum containing Xihuang pill on the proliferation of human breast cancer cell lines MDA-MB-435 and MCF-7 and the gene and protein expressions of Bcl-2, Bax, TP53, in order to explore the effect and mechanism of Xihuang pill in resisting breast cancer. The serum of the rats was prepared by the method of MTT assay. The expressions of Bcl-2 and Bax were detected by RT-PCR. The serum levels of Bcl-2 and Bax and the mRNA expression of TP53 were detected by immunofluorescence. The rats with serum containing Xihuang pill could inhibit the proliferation of MDA-MB-435 cells and MCF-7 cells (<0.05). The serum containing Xihuang pill increased TP53 and Bax in MDA-MB-435 cells (<0.05), and the ratio of Bcl-2/Bax was decreased (<0.05). Meanwhile, the serum containing Xihuang pill could up-regulate the mRNA expression of Bax in MCF-7 cells and decrease the expression of Bcl (<0.05), but there was no significant difference between the expression of TP53mRNA and Bax protein expressions after the treatment of MCF-7 cells with Xihuang pill serum. Serum containing Xihuang pill can induce the apoptosis of human breast cancer cells, and the mechanism of estrogen receptor-negative breast cancer cell apoptosis may be induced by up-regulating the mRNA expression of TP53, which can induce the expression of Bax and promote the metastasis of Bax to mitochondria, and ultimately play the role of inducing apoptosis.
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Objective To investigate and analyze the current setup, operation, nurse staffing,professional ability of nurses and professional standardized training system of tertiary hospitals in Zhejiang.Methods Cross-sectional study was used to investigate the nursing directors and 105 nurses from 36 tertiary hospitals of Zhejiang.The tools included the general questionnaire of anesthesia recovery rooms in Zhejiang tertiary hospitals, anesthesia specialty nurse job description questionnaire, and anesthesia recovery room nurses clinical specialized ability questionnaire.Data of the study were concluded and analyzed in the end.Results 35 of the 36 hospitals surveyed have in place anesthesia recovery care, accounting for 97%.The ratio of recovery room beds to operating bed was 0.48, and the ratio of nurses to recovery room beds was 0.52.In addition to the entire process involvement in the recovery and care of patients during recovery, the job of nurses covers administration of anesthesiology related items, equipment, drug management, cost management and cost entry, pain management and nursing.Nurse training methods depend on continuing education mainly.Anesthesia recovery room nurses′ clinical skills scored in average 82.96±1.52 points.Conclusions Most of these tertiary hospitals have in place anesthesia recovery rooms, yet with such challenges as shortage of beds, and overload/understaffing of nurses.Nurses are mostly trained in the departments, and a system of standardized training and qualification is to be further improved and established for such nurses.
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Objective To explore the effect of execution sheet for health education in chronic heart failure (CHF) patients. Methods About 50 CHF patients hospitalized from October 2015 to December 2015 were assigned as the control group and another 50 CHF patients hospitalized from January to March 2016 were set up as the experiment groups. The control group was instructed by the regular health education and the experiment group was instructed by the execution sheet for health education. Results The executive ability in the experiment group were stronger than that of control group (P<0.01). The level of self management among the patients in the experiment group was higher than those of the that control group. Conclusions The health education execution sheet increase the patients' self-management and strengthen nursing ability for discharged patients. It is worthy of popularization in clinical practice.
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Objective To summarize the clinical results of the surgical treatment for Stanford B aortic dissection patients with proximal aortic aneurysm(including aortic root,ascending,arch) by enblock technique.Methods From Jun.2011 to Oct.2015,20 patients with Stanford type B aortic dissection and proximal aortic aneurysm underwent open surgery by enbloc technique in our center.Among them,there were 15 male and 5 female.Average age of patients was(40.65 ± 13.55) years (range:22-65 years).The comorbidities of proximal aortic diseases are ascending aortic aneurysm in 10,aortic root aneurysm in 8,and aortic arch aneurysm in 2.All the surgeries were accomplished by hypothermic cardiopulmonary bypass assist.The combined surgery includes:extra-anatomy bypass grafting in 16,Bentall procedure in 15,ascending aortic repair in 5.Before surgery and discharged from hospital computed tomography angiography(CTA) was performed in each patient.All patients except 2 were followed.During the follow-up,CTA was performed and recorded.Results The average operation time,cardiopulmonary bypass time,aortic clamping time and selective cerebral perfusion (SCP) time are (6.47 ± 1.01)h (4.5-9 h),(173.60 ± 43.39) min (109-303 min),(91.25 ± 28.63) min (51-165 min),(27.25 ± 6.80) min (17-43 min),respectively.The mean nasopharyngeal temperature during SCP is(23.77 ± 1.27)℃ (21.6-26℃).There were no operative deaths.The mean follow-up time is (32.44 ± 17.27)months (range:8-60 months).Two patients underwent aortic re-intervention during follow-up.And 2 patients were lost follow-up(The follow-up rate is 90%).One late death was found.The patient succumbed to sudden distal aortic rupture.Other patients are survived without any complications.Conclusion Enblock technique is a relatively simple procedure in total aortic arch repair surgery.And it can be a safely surgical treatment for type B aortic dissection patients with proximal aortic aneurysm.The indications of enblock technique for Stanford B aortic dissection patients are those who combined with proximal aortic aneurysm.
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Objective To evaluate the prevalence and risk factors of progressive liver fibrosis in patients with non-alcoholic fatty liver disease (NAFLD).Methods A total of 2 054 subjects who underwent health check up and were diagnosed as NAFLD in 9 institutions were included in the study.Blood routine and biochemical findings were collected to calculate aspartate aminotransferase-to-platelet ratio index (APRI).Subjects were divided into three groups according to diagnostic threshold of liver fibrosis:APRI <0.43 group,APRI 0.43-0.53 group and APRI ≥ 0.54 group.The correlation between APRI and biochemical variables was analyzed,and the risk factors of progressive fibrosis were also analyzed.Results Among 2 054 subjects (male/female 1 598/456) there were 61 cases with APRI ≥ 0.98 (2.97%,progressive fibrosis),318 with APRI ≥0.54 (15.48%),1 475 with APRI < 0.43 (71.81%),261 with APRI 0.43-0.53 (12.71%).Logistic stepwise regression analysis showed that TG (P =0.002,OR =1.095,95%CI:1.033-1.161),2 hPG(P =0.000,OR =1.103,95% CI:1.058-1.151,BUN(P =0.034,OR =1.215,95 % CI:1.014-1.454) were risk factors,and H DL-C (P =0.034,OR =0.353,95 % CI:O.135-0.924) was a protective factor for the progression of fibrosis.Conclusion The progressive fibrosis in patients with NAFLD is closely associated to blood glucose and lipid metabolism disorder.
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Objective To explore the clinical effects of Ilizarov technology combined with closed minimally invasive osteotomy and slow tissue distraction in the treatment of complex crus malformations.Methods From June 2006 to February 2016,83 cases suffering complex crus malformations in our department were treated by Ilizarov technique combined with closed minimally invasive osteotomy and slow tissue distraction.Of whom,39 cases were traumatic bone defect,36 cases were bone osteomyelitis,8 cases were congenital pseudarthrosis of tibia.Bone defect ranged from 6 to 11 cm,with an average of 8 cm.All cases were conducted by segmental resection of bone lesions combined with closed minimally invasive osteotomy and Ilizarov technique.The functional evaluation was carried out according to the Paley evaluation criterion.Bone healing time,duration of external fixation,postoperative limb lengthening and limb function recovery were recorded.Results Eighty-three patients were followed up for 8 to 36 months,with an average of 16 months.All patients' crus malformations were completely corrected.The external fixation time was from 6 to 18 months,with an average of 10.3 months;the length of the limb lengthening was from 4.5 to 9 cm,with an average of 6.3 cm;and bone healing time was from 6 to 15 months,with an average of 9.8 months.According to the Paley evaluation criterion,53 cases were excellent,24 cases were good,6 cases were general.Conclusion Ilizarov technology combined with closed minimally invasive osteotomy and slow tissue distraction a reliable method to correct the complex deformity of the tibia and fibula.
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<p><b>OBJECTIVE</b>To estimate the prevalence of parvovirus B19 infection in Chinese Xiamen area blood donors.</p><p><b>METHODS</b>Blood samples from blood donors were tested for detection of parvovirus B19 DNA and antibody. The direct sequencing and genetype analysis of B19 DNA positive samples were performed.</p><p><b>RESULTS</b>Six out of 10452 samples were B19 DNA positive. The viral loads of the 6 samples were between 3.59×10-1.07×10IU/ml; the positive rate of B19-IgM was 4.64%(50/1078) and B19-IgG was 16.79%(181/1078). The positive rate of B19-IgG increased with ages, and was not related with the sex.</p><p><b>CONCLUSION</b>The overall prevalence of parvovirus B19 infection in blood donors is lower in Chinese Xiamen area than that in other areas, however, there is still a certain percentage of viremia in donors and the attention should be paid to blood safety in the future work.</p>
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The clinical data of 192 patients undergoing endoscopic thyroidectomy via thoracic and mammary approach from June 2010 to July 2015 were retrospectively analyzed.Tunnel bleeding occurred in 11 cases (hemorrhage group),which was associated with the incorrect level of puncture(P < 0.01).The tunnel bleeding was stopped by percutaneous packet-suturing in all 11 cases.There were no significant differences in postoperative drainage [(65.4 ± 7.5) and (63.8 ± 7.1) ml],subcutaneous petechiae [1/11 and 1.1% (2/181)],nursing costs[(135 ±20) and(132 ± 16) yuan],postoperative hospital stay[(4.5 ± 1.6) and (4.4 ± 1.3) d] and rehemorrhage [0/11 and 0.6% (1/181)] between hemorrhage and nonhemorrhage groups.The results show that percutaneous packet-suturing is reliable and effective method for tunnel bleeding without additional postoperative complications.
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<p><b>BACKGROUND</b>SmD1-amino-acid 83-119 peptide (SmD183-119) is the major epitope of Smith (Sm) antigen, which is specific for adult systemic lupus erythematosus (SLE). The anti-SmD183-119 antibody has exhibited higher sensitivity and specificity than anti-Sm antibody in diagnosing adult SLE. However, the utility of anti-SmD183-119antibodies remains unclear in children with SLE (cSLE). This study aimed to assess the characteristics of anti-SmD183-119antibody in the diagnosis of cSLE.</p><p><b>METHODS</b>Samples from 242 children with different rheumatological and immunological disorders, including autoimmune diseases (SLE [n = 46] and ankylosing spondylitis [AS, n = 11]), nonautoimmune diseases (Henoch-Schonlein purpura [HSP, n = 60], idiopathic thrombocytopenia purpura [n = 27], hematuria [n = 59], and arthralgia [n = 39]) were collected from Shanghai Children's Medical Center from March 6, 2012 to February 27, 2014. Seventy age- and sex-matched patients were enrolled in this study as the negative controls. All the patients' sera were analyzed for the anti-SmD183-119, anti-Sm, anti-U1-nRNP, anti-double-stranded DNA (dsDNA), anti-nucleosome, anti-SSA/Ro60, anti-SSA/Ro52, anti-SSB, anti-Scl-70, and anti-histone antibodies using the immunoblotting assay. The differences in sensitivity and specificity between anti-SmD183-119 and anti-Sm antibodies were compared by Chi-square test. The correlations between anti-SmD183-119and other auto-antibodies were analyzed using the Spearman's correlation analysis. A value of P< 0.05 was considered statistically significant.</p><p><b>RESULTS</b>Thirty-six out of 46 patients with cSLE were found to be positive for anti-SmD183-119, while 12 patients from the cSLE cohort were found to be positive for anti-Sm. Compared to cSLE, it has been shown that anti-SmD183-119 was only detected in 27.3% of patients with AS and 16.7% of patients with HSP. In comparison with anti-Sm, it has been demonstrated that anti-SmD183-119 had a higher sensitivity (78.3% vs. 26.1%, χ2 = 25.1, P< 0.05) and a lower specificity (90.8% vs. 100%, χ2 = 13.6, P< 0.05) in the diagnosis of cSLE. Further analysis revealed that anti-SmD183-119antibodies were positively correlated with anti-dsDNA, anti-nucleosome, and anti-histone antibodies in cSLE. Moreover, it has been clearly shown that anti-SmD183-119 was more sensitive than anti-Sm in discriminating autoimmune diseases from nonautoimmune disorders in patients with arthralgia or hematuria.</p><p><b>CONCLUSIONS</b>Measurement of anti-SmD183-119in patients with cSLE has a higher sensitivity and a marginally lower specificity than anti-Sm. It has been suggested that inclusion of anti-SmD183-119testing in the integrated laboratory diagnosis of cSLE may significantly improve the overall sensitivity in child populations.</p>
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Child , Female , Humans , Male , Autoantibodies , Allergy and Immunology , Autoantigens , Allergy and Immunology , Immune System Diseases , Allergy and Immunology , Immunoblotting , Lupus Erythematosus, Systemic , Allergy and Immunology , Peptides , Chemistry , Allergy and Immunology , snRNP Core Proteins , Allergy and ImmunologyРеферат
<p><b>BACKGROUND</b>Accurate assessment of intra- as well as extra-cardiac malformations and radiation dosage concerns are especially crucial to infants and children with interrupted aortic arch (IAA). The purpose of this study is to investigate the value of prospective electrocardiogram (ECG)-triggered dual-source computed tomography (DSCT) angiography with low-dosage techniques in the diagnosis of IAA.</p><p><b>METHODS</b>Thirteen patients with suspected IAA underwent prospective ECG-triggered DSCT scan and transthoracic echocardiography (TTE). Surgery was performed on all the patients. A five-point scale was used to assess image quality. The diagnostic accuracy of DSCT angiography and TTE was compared with the surgical findings as the reference standard. A nonparametric Chi-square test was used for comparative analysis. P <0.05 was considered as a significant difference. The mean effective radiation dose (ED) was calculated.</p><p><b>RESULTS</b>Diagnostic DSCT images were obtained for all the patients. Thirteen IAA cases with 60 separate cardiovascular anomalies were confirmed by surgical findings. The diagnostic accuracy of TTE and DSCT for total cardiovascular malformations was 93.7% and 97.9% (P > 0.05), and that for extra-cardiac vascular malformations was 92.3% and 99.0% (P < 0.05), respectively. The mean score of image quality was 3.77 ± 0.83. The mean ED was 0.30 ± 0.04 mSv (range from 0.23 mSv to 0.39 mSv).</p><p><b>CONCLUSIONS</b>In infants and children with IAA, prospective ECG-triggered DSCT with low radiation exposure and high diagnostic efficiency has higher accuracy compared to TTE in detection of extra-cardiac vascular anomalies.</p>
Тема - темы
Female , Humans , Infant , Infant, Newborn , Male , Aorta, Thoracic , Diagnostic Imaging , Pathology , Coronary Angiography , Methods , Electrocardiography , Methods , Radiation DosageРеферат
The aim of the present study was to investigate whether the physiological features of Ano1 were affected by enhanced green fluorescent protein (EGFP) fusing at Ano1 C-terminal. The eukaryotic expression vectors of Ano1 and EGFP-Ano1 were constructed, and these plasmids were transfected into Fischer rat thyroid follicular epithelial (FRT) cells using liposome. The expression and location of Ano1 were examined by using inverted fluorescence microscope. The ability of Ano1 to transport iodide was detected by kinetics experiment of fluorescence quenching. The results showed that both Ano1 and EGFP-Ano1 were expressed on FRT cell membrane and could be activated by Ca(2+). There was no significant difference of the ability to transport iodide between Ano1 and EGFP-Ano1. These results suggest Ano1 and EGFP-Ano1 have similar physiological feature.
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Animals , Rats , Anoctamin-1 , Cell Membrane , Physiology , Chloride Channels , Metabolism , Epithelial Cells , Physiology , Genetic Vectors , Green Fluorescent Proteins , Metabolism , Microscopy, Fluorescence , Plasmids , Recombinant Fusion Proteins , Metabolism , Thyroid Gland , Cell Biology , TransfectionРеферат
<p><b>OBJECTIVE</b>To understand the characteristics of infections from blood donors with HBsAg⁻/HBV DNA⁺ in Xiamen area.</p><p><b>METHODS</b>Donors in Xiamen area were assayed by routine ELISA and those with negative results were tested by nucleic acid amplification testing (NAT). HBsAg⁻/HBV DNA⁺ samples were tested by quantitative detection of HBV DNA. Epidemiological analysis and following up examination were conducted in HBsAg⁻/HBV DNA⁺ donors.</p><p><b>RESULTS</b>Out of 130659 samples 113 were tested as HBsAg⁻/HBV DNA⁺ and with a rate of 0.09%. Among those, 62 samples were tested by quantitative detection of HBV DNA. All of the quantitative results were less than 1 × 10³ IU/ml and 93.5% (58/62) of which were less than 100 IU/ml. The possitive rate of HBsAg⁻/HBV DNA⁺ donors rose with ages. The possitive rate in male donors was higher than that in female and was lower in highly educated ones. Students and public servants had a lower positive rate.</p><p><b>CONCLUSION</b>The possitive rate of HBsAg⁻/HBV DNA⁺ donors is higher in Xiamen and the distribution of possitive donors has certain epidemiological characteristics. It is necessary to mobilize and recruit more people with a lower rate of HBsAg⁻/HBV DNA⁺ infection.</p>
Тема - темы
Female , Humans , Male , Asian People , Blood Donors , China , Epidemiology , DNA, Viral , Blood , Enzyme-Linked Immunosorbent Assay , Hepatitis B , Epidemiology , Hepatitis B Surface Antigens , Blood , Hepatitis B virus , Nucleic Acid Amplification TechniquesРеферат
<p><b>OBJECTIVE</b>To identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.</p><p><b>METHODS</b>Two patients, five unaffected relatives of the family and 100 unrelated healthy controls were collected. The coding sequences and intron/exon boundaries of EXT1 gene were amplified with polymerase chain reaction (PCR) and sequenced.</p><p><b>RESULTS</b>A heterozygous c.600G>A (p.Trp200X) mutation in exon 1 of the EXT1 gene was detected in the patients. The same mutation was not found in unaffected family members and 100 healthy controls.</p><p><b>CONCLUSION</b>The hereditary multiple osteochondromas in the family is caused by a nonsense mutation (p.Trp200X) in the EXT1 gene.</p>