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Objective:To investigate the clinical and pathological characteristics and prognosis of upper tract urothelial carcinoma (UTUC) with concurrent other histological variants.Methods:The clinical data of 566 UTUC patients admitted to Peking University People's Hospital from January 2007 to April 2021 were retrospectively analyzed. Among them, 289 were males and 277 were females, with an average age of (67.3±10.0)years old. Among the patients, 97 had a history of smoking, 29 had undergone kidney transplantation, 120 had diabetes, 76 had coronary heart disease, 146 had hyperlipidemia, 271 had hypertension, and 50 had a history of chronic kidney disease. Among the UTUC cases, 366 had concurrent hydronephrosis, 55 had concurrent bladder cancer, and 43 had a history of previous bladder cancer. The distribution included 210 cases of renal pelvis carcinoma, 5 cases of carcinoma at the renal pelvis-ureter junction, 226 cases of ureteral carcinoma, and 125 cases of multifocal tumors. Patients were classified into the pure UTUC group and the UTUC with concurrent other histological variants group based on postoperative pathology, and their clinical and pathological features were compared. Logistic regression analysis was used to explore risk factors for the occurrence of histological variations in UTUC. The log-rank test was employed to compare the overall survival (OS) and cancer-specific survival (CSS) between the two groups, while Cox regression analysis was performed to investigate prognostic factors.Results:Among the 566 cases, 511 were pure UTUC and 55 were UTUC with concurrent other histological variants. Among the latter, 30 cases had squamous differentiation, 6 had glandular differentiation, 5 had mucinous differentiation, 5 had sarcomatoid carcinoma, 2 had micropapillary carcinoma, 2 had neuroendocrine carcinoma, 1 had giant cell carcinoma, and 4 had other mixed histological variations. The proportion of patients with a history of kidney transplantation was higher in the UTUC with concurrent histological variants group than that in the pure UTUC group [14.5% (8/55) vs. 4.1% (21/511)], with statistically significant difference ( P=0.003). In the UTUC with concurrent histological variants group, the proportion of postoperative high-grade tumors [98.2% (54/55) vs. 80.2% (410/511)], muscle-invasive tumors [89.1% (49/55) vs. 68.1% (348/511)], lymph node metastasis tumors [10.9% (6/55) vs. 2.3% (12/511)], and maximum tumor diameter [(3.60±2.64) cm vs. (2.96±1.98) cm] were higher than those in the pure UTUC group ( P<0.05). Multivariate logistic regression analysis showed that a history of kidney transplantation ( OR=4.991, 95% CI 1.749-13.615, P=0.002) was an independent predictive factor for the occurrence of histological variants. Follow-up was conducted for 1 to 174 months, with a median follow-up time of 32.8 months. UTUC with concurrent histological variants was significantly associated with worse OS and CSS ( P<0.05). Multivariate Cox regression analysis indicated that histological variants were an independent risk factor for OS ( HR=1.860, 95% CI 1.228-2.816, P=0.003) and CSS ( HR=2.146, 95% CI 1.349-3.412, P=0.001). Conclusions:UTUC with concurrent other histological variants exhibited higher postoperative tumor grade and stage compared to pure UTUC, and UTUC with concurrent other histological variants was an independent risk factor for worse prognosis.
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Objective:To assess the association between warm ischemia time (WIT) and renal function in patients undergoing laparoscopic partial nephrectomy.Methods:A total of 344 patients treated with laparoscopic partial nephrectomy in Peking University People’s Hospital were included. There were 240 males (69.8%) and 104 females (30.2%) with a median age of 57 (23-89) years.The median BMI was 25.6 (16.7-36.0) kg/m 2.213 cases (61.9%) were associated with hypertension.There were 66 (19.2%) patients with diabetes mellitus. There were 92 cases (26.7%) with smoking history. The median preoperative creatinine was 73 (32-170) μmol/L. The median preoperative estimated glomerular filtration rate (eGFR) was 95 (33-142) ml/(min·1.73m 2). The maximum diameter of the tumor was 2.5 (7-9) cm.314 (91.3%) patients with renal cancer stage T 1. All patients underwent warm ischemia during the operation. The patients were divided into three groups for analysis. Restricted cubic spline regression analysis was used to assess the association between WIT as a continuous variable and percentage change of eGFR. Analysis of covariance was used to compare postoperative eGFR among the three groups, and to adjust for preoperative eGFR and tumor diameter. Results:There were statistically significant differences in the percentage change of postoperative eGFR ( P=0.009) and tumor diameter ( P<0.001) among the three groups. Restricted cubic spline regression analysis showed that with the prolongation of WIT, the percentage change of postoperative eGFR gradually decreased, and the curve began to stabilize after 30 minutes (R 2=0.044, P=0.015). The results of covariance analysis showed that after adjusting for baseline preoperative eGFR and tumor size, the effect of WIT on postoperative eGFR was significantly different among the three groups ( F=3.864, P=0.022). The postoperative eGFR in the WIT<20 min group was significantly higher than that in 20 min≤WIT<30 min group( P=0.009) and WIT≥30 min group( P=0.017). There was no significant difference in postoperative eGFR between the two groups with longer WIT( P=0.806). Conclusions:In partial nephrectomy, patients with WIT less than 20 minutes had higher postoperative eGFR levels than those with WIT greater than 20 minutes. However, when WIT exceeded 20 minutes, prolonged ischemia time did not lead to further decline in renal function.
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OBJECTIVE@#To compare the short-term effects and long-term outcomes of incisional procedure and dilatation procedure to manage diverticular neck in percutaneous nephrolithotomy for diverticular stones.@*METHODS@#Clinical data of 61 patients with diverticular stones who underwent percutaneous nephrolithotomy from June 2009 to January 2019 were retrospectively collected and analyzed, which was as follous: (1) basic information: age, gender, body mass index (BMI), American Society of Anesthesiology (ASA) classifications and preoperative symptoms.(2)stone characteristic and procedure-related data: location and size of stone, skinned renal access length and procedure time.(3)perioperative clinical data: hemoglobin drop, Clavien's classification and stone-free rate. Long-term follow-ups were performed for more than 5 years after the patients were discharged.@*RESULTS@#Fifty-three patients were included based on the inclusion and exclusion criteria, and were divided into the dilation group (n=37) and the incision group (n=16) by the treatment methods of diverticular neck. There were 24 male patients (45.3%) and 29 female patients (54.7%), with a mean age of 39.96±12.88 years. Stones were mainly located in the upper pole (n=32, 60.38%) and posterior area (n=41, 77.4%), with a predominance of single stone (n=36, 67.9%). There was no statistically significant difference in demographic data and stone characteristics between the two groups except for age and stone burden. Forty-five patients (84.9%) reached stone-free status after surgeries, and 44 patients (83.0%) postoperative symptoms improved. Twelve patients were lost to the follow-ups, and 41 cases were followed up for an average of 77 months. One recurrence occurred 1 year after surgery. Fifteen patients underwent operations within the past 5 years and the overall 5-year recurrence rate for the remaining 26 patients was 34.6%. There was no statistically significant difference in the incidence of perioperative complications, postoperative stone-free rate and recurrence rate between the two groups, and the recurrence rate was significantly higher 5 years postoperatively than 1 year postoperatively. The proportion of the patients who remained lithotripsy-free and residual stone status decreased significantly.@*CONCLUSION@#Both incisional and dilatation procedures in percutaneous nephrolithotomy to manage diverticular neck could bring the satisfactory postoperative stone free rate. The recurrence rate was about 30% to 40% 5 years after surgery.
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Adult , Female , Humans , Male , Middle Aged , Kidney Calculi/surgery , Nephrolithotomy, Percutaneous , Nephrostomy, Percutaneous , Retrospective Studies , Treatment OutcomeABSTRACT
Objective:To explore the impact of occupational ionizing radiation exposure on blood indicators including white blood cell( WBC), red blood cell (RBC), hemoglobin (Hb), platelet (PLT) were analyzed. Methods:A total of 237 medical radiation workers in Yangpu district, Shanghai were recruited and divided into observation group and control group, according to individual average dose of external exposure. The annual effective dose in observation group was 0.357 7-4.704 3 mSv, and the median dose was 0.536 8 mSv (0.441 2-0.893 8). The annual effective dose in control group was 0.031 2-0.350 8 mSv, and the median dose was 0.199 2 mSv (0.143 8-0.252 8). Routine blood tests were conducted twice in the occupational health examinations from 2017 to 2019 and the results were collected. Chi-square test, Mann-Whitney U test, and generalized estimating equations (GEE) model were used for statistical analysis. Results:Compared to the first examination, the risk of having abnormal Hb increased (OR=1.029, 95%CI: 1.006-1.053). After adjusting the factors of age, gender, seniority and exposure time, the risk of Hb abnormality in the observation group was lower than that in the control group (OR=0.422, 95%CI:0.198-0.898). There was no significant difference between the observation and control groups in the risk of abnormal WBC, RBC, and PLT. Conclusion:Exposure to occupational ionizing radiation may increase the risk of abnormal Hb, while there is no significant change in WBC, RBC and PLT. Radiation workers should have full protection at work and be under appropriate occupational health management.
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Hyaluronic acid injection is becoming a popular way for penile augmentation. However, only few studies and follow-ups have investigated the various complications of hyaluronic acid injection and their corresponding management. In this study, a total of 230 patients who had penile augmentation with hyaluronic acid injection from January 2018 to December 2019 were examined on follow-up for penile girth, complications, and their corresponding management. At 1-month, 3-month, and 6-month postoperative follow-ups, the penile circumference had increased by 2.66 ± 1.24 cm, 2.28 ± 1.02 cm, and 1.80 ± 0.83 cm, respectively. During the entire 6-month follow-up, 4.3% had complications such as subcutaneous bleeding, subcutaneous nodules, and infection. There were no systemic or local allergic reactions among all the patients. All complications were treated accordingly, and no further deterioration or severe sequelae were observed. Although complications of hyaluronic acid injections are mild and rare, these may affect the patient's satisfaction postoperatively. Preoperative redundant prepuce may increase the incidence of penile edema or postoperative gel migration. Standardization of the surgery protocol and elucidation of the effects of other injection parameters are still lacking. Nevertheless, it still highlights the importance of preoperative preparation and surgical technique.
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OBJECTIVE@#To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.@*METHODS@#A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay.@*RESULTS@#There were 537 cases of β-thalassemia with over 15 kinds of genotypes, and 19 cases of α-composite β-thalassemia with 8 genotypes. Thalassemia minor appeared mostly in β-thalassemia, including 229 cases of IVS-2-654/N (42.64%), 121 cases of CD41-42/N (22.53%), 76 cases of CD17/N.(14.15%), 39 cases of CD26/N (7.26%) and 27 cases of CD27-28/N (5.03%) and the total ratio reached to 91.62%, however, 1 case of thalassemia intermediate was -29/IVS-2-654, and the genotype of 2 cases of thalassemia major was CD27-28/IVS-2-654 and CD41-42/IVS-2-654. The mutation frequency of IVS-2-654, CD41-42 and CD17 was higher in β-thalassemia, as follows: 42.93%, 22.36% and 14.13%, respectively.@*CONCLUSION@#β-Thalassemia minor is the majority of the neonants thalassemia in Wuhan area. The gene frequency of deletion type, such as IVS-2-654/N, CD41-42/N and CD17/N, is higher.
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Humans , Infant, Newborn , China , Genetic Testing , Mutation , Prevalence , beta-Thalassemia , GeneticsABSTRACT
OBJECTIVE@#To investigate the common genotypes of thalassemia of the pregnant woman in Wuhan area of China, and to make the prenantal gentic diagnosis for the fetus at high risk of thalassemia.@*METHODS@#A total of 357 pregnant woman with the primary positive screening in Wuhan area were included in this study. Genotypes were measured with PCR-flow cytometry, and fluorescence hybridization was used for detecting thalassmia gene. The husbands of the pregnant women with thalassmia were recalled for genetic analysis of thalassemia, and 9 cases of fetuses with high risk of thalassemia were detected by amniocontesis after genetic counseling.@*RESULTS@#In 357 cases of the pregnant women in Wuhan area, the 214 cases were diagnosed as thalassemia, 80 cases were diagnosed as alpha thalassemia (up to 90%), whose genotypes were determind as --/αα (78.75%) and -α/αα (15.00%), while 133 cases were determind with genotype of IVS-2-654/N (43.61%), CD41-42/N (20.30%) and CD17/N (19.55%) in beta thalassemia (up to 80%). 9 prenatal diagnosis continued pregnancy included 1case of -α/--, 1 case of -α/αα, 2 cases of --/αα, 2 cases of IVS-2-654/N and 3 cases of normal, however, the pregnancy in prenatal diagnosis of -α/-- voluntarily was terminated after genetic counseling. Follow-up results after delivery were consistent with prenatal diagnosis.@*CONCLUSION@#Minor and static thalassemia were very common in Wuhan area. Genetic detection after primary screening, genetic counseling and prenatal diagnosis in pregnant women could provide a theoretical basis for the development of regional specific prevention of intermedius and critical thalassemia which is meaning for rearing and bearing better children.
Subject(s)
Female , Humans , Pregnancy , China , Genetic Testing , Genotype , Prenatal Diagnosis , alpha-Thalassemia , beta-ThalassemiaABSTRACT
Objective To analyze the rates of occurrence,presentations and treatment of coronary intramural hematomas(IMH)after coronary artery stent implantation.Methods Retrospective analysis was carried out in non-chronic total occlusion patients who developed coronary intramural hematomas after coronary artery stent implantation between January 1,2011 to December 31,2016.Statistical analysis was made in the fields clinical data,coronary angiography features,treatment provided,and postoperative follow-up date of the patients.Results Among the 26 IMH patients,the male gender(15/26,57.7%)and existiing hypertension(17/26,65.4%)were more common risk factors for IMH after coronary artery stent implantation.Fourteen patients developed coronary dissection.The coronary intramural hematomas presented as new non-spasm and non-thrombus coronary stenosis.The coronary intramural hematomas were found to have involved the distal segment to the stents in 16 patients.Two patients received balloon dilation,five patients had stents implantation after balloon dilation,13 patients(50.0%)were treated with direct stent implantation and the other 6 patients did not have further intervention.The follow up period after hospital discharge was(2.39±1.68)years.No adverse cardiovascular event occurred.Five patients received follow-up angiography examination.Two patients and another one patient were found to have coronary intramural hematomas fully resolved at three months and one year with coronary angiographic follow up,respectively.Two patients had IMH on angiography at 1 year follow up.Conclusions Coronary intramural hematomas after coronary artery stent implantation often involved the distal segment to the stent in hypertensive patients presenting as new non-spasm and non-thrombus coronary stenosis.Patients at low risk of acute coronary occlusion could receive conservative treatment.Patients with extentsive length of intramural hematomas should consider stent implantation for treatment.
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Raynaud Syndrome(RS) is a kind of paroxysmal digital ischemic disease whose typical symptom is characteristic tricolor change featuring pallor,cyanosis,and erythema induced by cold or emotion changing.The pathogenesis of RS is still not entirely clear,and there is no radical treatment.In recent years,endoscopic thoracic sympathectomy (ETS) for Raynaud Syndrome is gradually applied.ETS produces a high rate of initial relief,and has lower risk and technical difficulty compared with other surgical options,while its poor long-term outcome can't be ignored.There is currently a lack of a large number of clinical controlled trials between different operations,and there is still a need for further improved surgical procedures and accurate postoperative evaluation criteria.In this review,the recent advances of ETS is summarized.
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Objective@#To understand the histopathological and ultrastructural pathology changes of great gerbils in the Junggar Basin to Yersinia pestis infection.@*Methods@#Forty captured great gerbils from the Junggar Basin that tested negative for anti-F1 antibodies were infected. The Y. pestis strain 2504, isolated from a live great gerbil in the natural plague foci of the Junggar Basin in 2005 with a median lethal dose (LD50) of <10 CFU/ml, was used in this study. Forty great gerbils were divided into seven infection groups and were subcutaneously infected with 7.4×105, 7.4×106, 7.4×107, 7.4×108, 7.4×109, 7.4×1010, or 3.0×1011 CFU/ml of 2504. One milliliter of physiological saline was injected in the noninfected group as a control. We collected the liver, spleen, heart, and lung from all animals for histopathologic and ultrastructural pathology examination.@*Results@#Great gerbils in the 7.4×108-3.0×1011 CFU/ml groups did not survive and exhibited pathological changes and altered ultrastructural pathology. The liver tissue of infected great gerbils showed spotty necrosis and fatty degeneration, intranuclear canaliculi with increased hepatocytes, and uneven distribution of organelles. Additionally, reactive proliferation of lymphoid tissue in the spleen, blood sinusoid lacunae with neutrophil infiltration, and phagocytosed bacteria in phagocyte cells were observed. Myocardial fiber hypertrophy and interstitial indistinction, nuclear matrices decreased in cardiac myocytes, and loose arrangement of myogenic fibers in myocardial cells were also observed. Angiectasia, capillary congestion, and tissue necrosis were found in the lung. No significant difference in histopathological and ultrastructural pathology in the parenchymal organ was observed between the 7.4×105-7.4×107 CFU/ml groups and the 7.4×108-3.0×1011 CFU/ml groups, and no specific death caused by Y. pestis infection was apparent in the 7.4×105-7.4×107 CFU/ml groups.@*Conclusion@#Y. pestis infection altered tissue and ultrastructural pathology in the parenchyma apparatus of great gerbils. In particular, the liver and spleen appeared to be the primary site of Y. pestis infection in great gerbils.
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Objective@#To observe the dynamics of antibody response in great gerbils infected with Yersinia pestis in experiment.@*Method@#A total of 211 great gerbils were captured in the southern margin of plague natural focus of Junggar Basin of the Xinjiang Uygur Autonomous Region in 2011. Among them, there were 167 great gerbils without infection of Y. pestis and 44 great gerbils infected by Y.pestis. Y.pestis No. 2504 was employed for this experimental strain, which was strong toxic strain with negativity in the reduction experiment of nitrate. 35 great gerbils without the infection of Y. pestis were divided randomly and averagely into 7 groups including 6 experimental groups and 1 control group. Great gerbils in the 1st to 6th experimental groups were exposed first with 1 × 106-1 × 1011 CFU/ml of bacterial fluid with 10 times of gradient dilution; groin areas of great gerbils in the control group were injected subcutaneously with physiological saline; and the amount of infection was all 1 ml. 17 great gerbils infected with Y. pestis and the first detection of F1-antibody titer in 1∶256-1∶4 096 were grouped according to F1-antibody titer: group 1∶4 096 (n=4), group 1∶2 048 (n=4), group 1∶1 024 (n=3), group 1∶512 (n=3) and group 1∶256 (n=3); and blood in caudal regions was collected in asepsis for the detection of F1-antibody, with a total of 5 times. 9 great gerbils which were selected from the remaining great gerbils infected with Y. pestis and detected F1-antibody negative 2 times were exposed 1×106 CFU/ml of bacterial fluid for the second infection, with the amount of infection being 1 ml. Blood in caudal regions of great gerbils after the first and second infection were collected for the detection of plague F1-antibody on the 3rd, 5th, 7th, 15th, 30th, 60th, 90th and 120th day after infection. Declined regression models for great gerbils' antibodies were established with unary linear regression equation; declined change diagrams for the antibodies were drawn to observe the declined F1-antibody after great gerbils were exposed to Y. pestis.@*Results@#In great gerbils with the first infection of Y. pestis, antibodies were detected in the 1 × 106-1 × 108 CFU/ml of group on the 30th, 15th and 15th day, respectively; the positive rates of antibody were 1/4, 3/4 and 4/5, respectively; the group 1×107 and 1× 108 CFU/ml reached to the highest antibody titer with 1∶256 on the 120th day; antibodies were revealed in the group 1×109, 1×1010 and 1×1011 CFU/ml from the 5th to 7th day when the seroconversion of all antibodies was observed; group 1×1011 CFU/ml reached to the highest antibody titer on the 120th day with 1∶4 096. In the great gerbils with the second exposure to Y.pestis, positive antibodies were detected on the 3rd day with the positive rate being 2/9; and the highest antibody titer with 1∶2 048 was noted on the 90th day. Unary linear regression equation of declined F1 antibody of great gerbils was y=0.045x- 0.321 (F=115.40, P< 0.001), and the shortest duration for F1-antibody titer declining from 1∶4 096 to 0 was 140 d and the longest duration 200 d.@*Conclusion@#Great gerbils infected with the high concentration of Y. pestis fluid show shorter duration in producing F1-antibody, the antibody positive rate is also higher, and the highest antibody titer can reach 1∶4 096. The great gerbils could hold the plague F1 antibodies for a long time which was about 140 to 200 days from the highest titer.
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Objective To predict the Hypertention by pregnancy in counting nuclear red blood cells pe-ripheral blood. Methods Blood samples were obtained from 69 pregnant women with the gestational age from 12 to 18 weeks. Peripheral blood mononuclear cells were isolated by density gradient centrifugation and then analyzed the cells marked with PE-GPA/FITC-CD71 monoclonal antibodies on the flow cytometer. Correlations between them were analyzed after tracking of hypertention by pregnancy. Results Percentage of GPA+/CD71+ cells in healthy pregnant women was 0.89 ± 0.81%, while that in pregnant women with hypertention was 3.57 ± 3.48%. There was a significant difference between the two groups (P<0.05), and the percentage of GPA+/CD71+cells in the group of hypertention by pregnancy was much higher than that in the healthy group. Conclusions The increased nuclear red blood cells in maternal peripheral blood related to hypertention by pregnancy. The counting of nuclear red blood cells in maternal peripheral blood have potential value to predict hypertention by pregnancy.
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<p><b>OBJECTIVE</b>To explore the spatial and temporal distributions of animal plague in Junggar Basin natural plague focus.</p><p><b>METHODS</b>Data regarding plague antibody (F1) in serum of Great Gerbil (Rhombomys opimus, R. opimus) which were collected from 2005 to 2012 in Junggar Basin and analyzed. The changing rates on the positivity of F1 that appeared spatially and temporally were also analyzed.</p><p><b>RESULTS</b>A total of 4 825 R. opimus serum samples were collected in 13 administrative regions in Junggar Basin.</p><p><b>RESULTS</b>showed that plague R. opimus existed in two areas-Gurbantonggut desert in the eastern-center and the clay desert of western Junggar Basin. However, in these two areas, the intensity of animal plague prevalence was different. In the former region where Yesinia pestis positive serum was detected from R. opimus, the detected rate of R. opimus was 8.39%. However, in the latter areas, the average positive rate was 1.56%. The changing trends of R. opimus plague prevalence were also varied annually. In the western Junggar Basin, the trend showed a slowly downward profile. The serum positive rate of R. opimus for Yesinia pestis decreased, from 7.59% in 2005 to 0.61% in 2008, and appeared as a resting state that none of the positive sample could be found since then. However, in the eastern-center Junggar Basin area-also named as Gurbantonggut desert which had been divided into 3 segments(western, central and eastern, according to related geographical characteristics), the changing trends of animal plague seemed quite complex. In the western segment, the animal plague had two epidemic peaks-in 2006 and 2010, with the interval of 4 years, with the higher peak of all the three geographic segments as 45.65% in 2010 and the positive serum of R. opimus for plague could be detected each year from 2006 to 2012. However, there were 3 epidemic peaks in the same period in the central and eastern segments. In the central segment, the peaks appeared in 2006, 2009 and 2011, with the intervals as 2.5 years and the average positive rate 8.92% was seen the lowest in Gurbantonggut desert. In the eastern segment, the first 2 peaks appeared the same season as in the central segment, but the third peak appeared in 2012, with the peak interval as 3 years. The positive rate of R. opimus for plague was also different in seasons, with the positive rate higher in autumn than in spring. These findings showed that the animal plague could be continuously prevalent from spring to autumn in the natural foci of plague in the Junggar Basin.</p><p><b>CONCLUSION</b>Both geographical and temporal fluctuations of animal plague existed in the natural foci of Junggar Basin which was also named as geographical heterogeneity. Consequently, animal plague could be divided into two areas-the clay plains desert in the western and the Gurbantonggut desert in the eastern-center Junggar Basin.</p>
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Animals , Gerbillinae , Plague , Epidemiology , Time , Yersinia pestisABSTRACT
Objective To study the SLC26A4 mutations in children with non -syndromic hearing loss by ge-netic testing method ,for the purpose of investigating etiology and mutation regularity of hearing loss ,and to provide basic information for the molecular diagnosis of hearing loss .Methods Blood samples and clinical data of 137 spo-radic cases with non -syndromic hearing loss and 126 normal controls were collected .The SLC26A4 gene of the pa-tients and normal controls were amplified by polymerase chain reaction (PCR) ,then subjected to automatic DNA se-quencing .Results Pathologic SLC26A4 mutations were identified in 23 out of 137 patients ,and in 23 out of 119 bi-lateral deafness ,mutate rate were 16 .79% and 19 .33% ,respectively .SLC26A4 mutations were identified in 19 out of 20(95% ) patients with bilateral LVA .A total of 11 mutations were identified in the present study ,including 4 novel mutations (E29K(c .85G>A) ,R79X(c .235C> T) ,C282G(c .844T>G) ,V285I(c .853G>A) )and 7 repor-ted mutations .In the present study ,IVS7-2A>G was the most common mutation ,and was detected in 19 out of 23(82 .61% ) patients with SLC26A4 mutations .Conclusion SLC26A4 mutations ,the common reason for non -syndromic hearing loss ,were closely related with LVA .IVS7-2A>G was the most common mutation in SLC26A4 mutant .
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<p><b>OBJECTIVE</b>To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.</p><p><b>METHODS</b>The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.</p><p><b>RESULTS</b>Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients: 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.</p><p><b>CONCLUSIONS</b>SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Chromosome Banding , Disorders of Sex Development , Diagnosis , Genetics , Karyotype , Sex-Determining Region Y Protein , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To understand the community structure of Rhombomys opimus parasitic fleas in the natural plague focus in Junggar Basin, so as to explain the relationship between the community structure and the prevalence of animal plague in this area.</p><p><b>METHODS</b>The body fleas of R.opimus which were collected in 2005-2010 from the Junggar Basin was analysed by community ecology method, an each clustered flea community was compared with information of pathogenic and serological indicators of animal plague epidemic by statistic method.</p><p><b>RESULTS</b>The community structure of R. opimus parasitic fleas included 19 species and was very complicated, with only 3 were identified as 'common' species but the others belonged to 'rare' species. Both the average richness and diversity of flea community were higher, as 1.66 and 1.5556, with dominance not obvious (0.332) and the homogeneity as moderate (0.5283). The community structure of R. opimus parasitic fleas could be changed by the following factors as: the rates of flea parasitic/flea index and the proportions of main fleas etc. The flea community could be divided into 5 clusters according to the above said elements. All these data showed that the fleas of R. opimus parasitic fleas possess the nature of multi-parasitism.</p><p><b>CONCLUSIONS</b>The community of R. opimus parasitic fleas existed heterogeneous of geographic region, and this phenomenon associated with the animal plague epidemic strength.</p>
Subject(s)
Animals , Biota , China , Epidemiology , Gerbillinae , Parasitology , Plague , Epidemiology , SiphonapteraABSTRACT
<p><b>OBJECTIVE</b>To analyze the advantages and disadvantages of bipedicular approach and uni-extrapedicular approach of vertebroplasty in treating osteoporotic vertebral compression fractures (OVCFs).</p><p><b>METHODS</b>From January 2008 to December 2010,53 patients with OVCFs were retrospectively analyzed. There were 24 males, 30 females with an average age of 66.9 years (ranged,59 to 88 years). Among them, 26 cases were treated with bipedicular approach, 28 cases were treated with uni-extrapedicular approach. The data of bone cement injection, radiology exposure times, operation time, bone cement leakage and vessels nerve complications were observed. Cobb angle, vertebral compression ration were observed by imaging data, and evaluate recovery of deformity.</p><p><b>RESULTS</b>The data of bone cement injection, radiology exposure times, operation time, VAS score were (6.6 +/- 0.8) ml and (6.8 +/- 1.5) ml, (21.7 +/- 4.0) times and (17.9 +/- 3.6) times, (40.5 +/- 5.5) min and (31.6 +/- 9.1) min, (2.8 +/- 0.6) scores and (3.1 +/- 0.5) scores respectively. Cobb angle,vertebral compression ration were (7.6 +/- 2.0) degrees and (6.9 +/- 2.6) degrees, (18.1 +/- 5.8)% and (16.5 +/- 6.1)%. There were no vascular nerve complications occurred. For bone cement leakage, 3 cases (11%) in bipedicular approach and 3 cases (11%)in uni-extrapedicular approach. There was no significant differences between two groups in VAS score, recovery of vetebral body, Cobb angle, bone cement injection and bone cement leakage, but had significant differences in radiology exposure times and operation time (P<0.05).</p><p><b>CONCLUSION</b>Both of two approaches can treat OVCFs well, especially extropedicle approach which could reduce operation time and radiation shoot frequency.</p>
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Fractures, Compression , General Surgery , Osteoporotic Fractures , General Surgery , Retrospective Studies , Spinal Fractures , General Surgery , Treatment Outcome , Vertebroplasty , MethodsABSTRACT
<p><b>OBJECTIVE</b>To study surgical treatment for the deep wound infections after the operation of posterior lumbar interlumbar fusion (PLIF) in lumbar spinal stenosis.</p><p><b>METHODS</b>From December 2005 to December 2010,10 patients with the deep wound infection of the PLIF were analyzed retrospectively, including 4 males and 6 females, with a mean age of 52.8 years (ranged from 34 to 70 years). All the patients were treated with debridement and the drainage. The sensitive antibiotics were used. The VAS score, erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and JOA lumbar score were used to compare the clinical results pre-and post-operation.</p><p><b>RESULTS</b>All the patients were followed up, and the mean duration was 24 months (ranged from 19 to 28 months). One patient developed to an intervertebral space infection and the cage was removed. One patient suffered a radical central nerve system infection and died after the debridement. Other 8 patients got a good clinical result. The VAS score decreased from preoperative 8.0 +/- 0.4 to postoperative 2.8 +/- 0.3; JOA score improved from preoperative 10.30 +/- 3.02 to postoperative 24.10 +/- 2.85; ESR decreased from preoperative (85.0 +/- 17.0) mm/h to postoperative (14.0 +/- 6.0) mm/h; both CRP and WBC decreased from preoperative (73.5 +/- 14.3) mg/L, (11.1 +/- 1.8) x 10(9)/L to postoperative (5.1 +/- 1.1) mg/L, (7.4 +/- 0.5) x 10(9)/L respectively.</p><p><b>CONCLUSION</b>Treatment of patients with deep wound infections after PLIF with debridement, drainage, and sensitive antibiotics could get a good long-term clinical result, which is important to treat the patients with high-risk factors. Early diagnosis and operation is the key to deal with the patients with deep wound infections after PLIF.</p>
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Lumbar Vertebrae , General Surgery , Retrospective Studies , Spinal Fusion , Spinal Stenosis , General Surgery , Surgical Wound Infection , General SurgeryABSTRACT
<p><b>OBJECTIVE</b>To evaluate the clinical and angiographic outcomes of vasospastic angina patients with severe organic stenosis treated by drug-eluting stents.</p><p><b>METHODS</b>Between January 2006 and December 2010, severe organic stenosis (diameter stenosis more than 70%) was evidenced in 7 out of 46 vasospastic angina patients and treated with drug-eluting stents. Coronary angiography was repeated at 6 - 18 months after percutaneous coronary intervention and the patients were clinically followed up. The clinical and angiographic outcomes were observed.</p><p><b>RESULTS</b>Nine drug-eluting stents [mean diameter 2.75 - 3.50 (3.08 ± 0.24) mm, length 24 - 33 (27.3 ± 3.6) mm] were successfully implanted in these 7 patients. Stents were implanted into left anterior descending artery (LAD) in 5 patients (71.4%), right coronary artery (RCA) in 1 patient (14.3%), both LAD and RCA in 1 patient (14.3%). Transient RCA spasm and distal LAD spasm were observed during percutaneous coronary intervention of LAD in 2 patients. Anginal attack at rest with transient ST segment elevation at V(1)-V(3) leads occurred 24 hours after LAD stenting in 1 patient. Follow-up coronary angiography showed significant in-stent restenosis or focal edge restenosis (diameter stenosis more than 50%) in 3 patients (42.9%), mild neointimal proliferation but without significant restenosis in 2 patients (28.6%), and no neointimal proliferation in 2 patients (28.6%). During clinical follow-up of 17 to 50 months after percutaneous coronary intervention, 2 patients (28.6%) remained asymptomatic, while effort angina and/or rest angina was documented in the remaining 5 patients (71.4%).</p><p><b>CONCLUSIONS</b>Our results from this small patient cohort suggest that drug eluting stent implantation for severe organic stenosis in patients with vasospastic angina is linked with high incidence of restenosis and recurrent chest pain. Further observation in larger patient cohort is warranted to clarify the efficacy of this strategy for treating vasospastic angina patients with severe organic stenosis.</p>
Subject(s)
Aged , Female , Humans , Male , Middle Aged , Angina, Unstable , Therapeutics , Angioplasty, Balloon, Coronary , Coronary Stenosis , Therapeutics , Drug-Eluting Stents , Treatment OutcomeABSTRACT
<p><b>OBJECTIVE</b>To evaluate the in-hospital outcome and determinants relating to success rate of percutaneous coronary intervention (PCI) for patients with chronic total occlusion (CTO) using contemporary techniques.</p><p><b>METHODS</b>A total of 1485 patients with total occluded coronary artery were identified from January 2004 to December 2008 in Zhongshan hospital. Of them, 638 patients were affirmed as CTO and 447 patients underwent PCI. The clinical data and the in-hospital outcome of patients underwent PCI were retrospectively analyzed.</p><p><b>RESULTS</b>Procedure success was achieved in 382 patients (85.5%). Coronary perforation (C-F type dissection or coronary perforation) occurred in 27 patients (6.0%), cardiac tamponade developed in 6 out of the 27 patients, 2 patients (0.4%) received in-hospital repeat revascularization. Two patients (0.4%) died post PCI: one died of acute stent thrombosis and the other one died of refractory heart and respiratory failure.Compared with patients of successful recanalization, patients failure to recanalization were more aged [(62.9 ± 10.4)years vs. (65.9 ± 9.9) years, P < 0.05] and excessive tortuosity (16.2% vs. 38.5%, P < 0.01), absence stump (47.1% vs. 80.0%, P < 0.01) and excessive calcification (36.9% vs. 72.3%, P < 0.01) were more common. Multiple logistic regression analysis revealed that excessive calcification (OR: 3.866, P < 0.01), absence stump (OR: 3.346, P < 0.05) and excessive tortuosity (OR: 3.055, P < 0.01) were independent predictors for the procedural failure.</p><p><b>CONCLUSIONS</b>PCI for patients with CTO is safe and effective. Apart from progress on the equipment development, procedural success rates are closely related with the clinical and angiographic features of CTO.</p>