Objective To investigate the correlation of CYP2D6 gene polymorphism and serum tamoxifen (TAM) and its active metabolites (4-hydroxy tamoxifen,4-OH-TAM) in terms of prognosis of breast cancer patients.Methods The oral mucosas and serum were obtained from 200 breast cancer patients receiving oral TAM from Jan 2008 to Oct 2010.Real-time RT-PCR was used to determine CYP2D6* 10 gene polymorphism.The relationship between CYP2D6* 10 gene polymorphism and clinicopathological features and prognosis was assessed by Chi-square test and Cox proportional model.Serum TAM and 4-OH-TAM concentration were determined by liquid chromatography-trap mass spectrometry (LC-MS).Results Of 200 breast cancer patients,CYP2D6 * 10/* 10 homozygotes were found in 94 cases (47％),CYP2D6 wt/wt wild type in 48 cases (24％) and CYP2D6 wt/* 10 heterozygote in 58 cases (29％).The concentration of serum 4-OH-TAM in patients with CYP2D6 wt/wt wild type and wt/* 10 heterozygote was significantly higher than that in patients with CYP2D6 * 10/ * 10 homozygote (F =4.31,P =0.01).CYP2D6 gene polymorphism was not related to clinicopathological features (P ＞ 0.05).Logrank test showed that patient's disease-free survival with mutational CYP2D6 (mean,47.2 months) was significantly shorter than that in patients without mutational CYP2D6 (mean,51.2 months) (P =0.018).Cox proportional model showed that CYP2D6 genotype was related to disease-free survival (HR =2.755,95％CI:1.230 ～6.173,P =0.014).Conclusions CYP2D6 *10/* 10 genotype is related to curative effect of TAM on breast cancer patients,detection of CYP2D6 * 10/* 10 genotype helps improve the choice of TAM therapy.

Mean hemoglobin (Hb) concentration of about 3 500 subjects derived from 17 studies of Himalayan highlanders (Tibetans, Sherpas, and Ladakhis) was compared with lowlanders (Chinese Han, Indian Tamils) lived in the Himalayas, and European climbers during Everest expeditions as well as Andean natives. The results found that Hb concentration in Himalayan highlanders was systemically lower than those reported for Andean natives and lowland immigrants. These comparative data demonstrated that a healthy native population may successfully reside at high altitude without a significant elevation in Hb, and the lower Hb levels of Himalayan highlanders than those of migrated lowlanders and Andean natives are an example of favourable adaptation over the generations. In addition, excessive polycythemia has frequently been used as a marker of chronic mountain sickness (CMS). Altitude populations who have a higher Hb concentration also have a higher incidence of CMS. The low Hb in Himalayans suggested as showing adaptation over many generations in Tibetan stock. Recent work in Tibet, suggested that Tibetans there may have adapted to high altitude as a result of evolutionary pressure selecting for genes which give an advantage at altitude. All of the population genomic and statistical analysis indicated that EPAS1 and EGLN1 are mostly likely responsible for high altitude adaptation and closely related to low Hb concentration in Tibetans. These data supported the hypothesis that Himalayan highlanders have evolved a genetically different erythropoietic response to chronic hypoxia by virtue of their much longer exposure to high altitude.
Adaptation, Physiological ; Altitude ; Asian Continental Ancestry Group ; genetics ; Basic Helix-Loop-Helix Transcription Factors ; genetics ; Evolution, Molecular ; Hemoglobins ; genetics ; Humans ; Hypoxia-Inducible Factor-Proline Dioxygenases ; genetics ; Tibet

ObjectiveTo evaluate the clinical effect of MSCT measurements in the pre- and postoperational osteal posterior cranial fossa for the adult patients of basilar invagination.Methods We reviewed the images of a cohort of 31 adult patients with basilar invagination,which were treated by surgical operation.According to the presence of atlantoaxial dislocation,the patients were divided into groups A and B.The basion-dens interval (BDI),atlanto-dental interval (ADI),space available of the spinal cord ( SAC),clivus-canal angle( CCA),Highly index( HI),and Chamberlian line(CBL) of the posterior cranial fossa were obtained in all the patients.Independent-sample Student's t test was used to compare the differences between groups A and groups B.Spearman correlations were analyzed between CT measurement data and effects of operations.ResultsIn Group A,the BDI,ADI,SAC,CCA,HI,CBL before and after surgery were 12.6 mm,8.3 mm,4.5 mm,3.3 mm;18.2 mm,20.8 mm,138.3°,150.4°,28.7 mm,43.4 mm,6.3 mm,3.3 mm respectively.There were significant differences ( t = 5.603,2.323,3.124,5.531,4.278 and 2.375,respectively,P ＜0.05 ).Preoperative JOA score in groups A was 10 points,and was 14 points after surgery.There was significant difference between the JOA scores before and after surgery ( t = 3.526,P ＜ 0.05 ).There were 7 effective cases and 4 stable cases after surgery in group A.Before and after surgery,JOA score and BDI,ADI,SAC,CCA,HI,CBL were significantly correlated( r = -0.667,- 0.673 ; - 0.571,- 0.619 ; 0.642,0.513 ; 0.525,0.558 ; 0.587,0.511 ; - 0.532,- 0.596,respectively,P＜0.05).The SAC,CCA,and CBL before and after surgery in group B were 18.3 mm,19.6 mm,146.8°,150.2°,2.7 mm,1.8 mm.The difference was statistically significant after operation ( t = 5.359,4.126,0.769,P ＜0.05).The BDI,ADI,and HI before and after surgery in group B were 7.2 mm,6.6 mm,2.4 mm,2.1 mm,39.3 mm,41.5 mm.And there were no significant differences (t = 1.482,2.374,0.153,P＞0.05).The preoperative JOA score in groups B was 11 points,and the postoperative score was 16 points.JOA scores before and after surgery were significantly different (t =2.874,P ＜0.05).There were 14 effective cases and 6 stable cases after operation in group B.The JOA score before and after surgery and BDI,ADI,and HI had no correlation (r =0.341,0.387;0.154,0.182; 0.192,0.167,P ＞0.05),and CBL,SAC and CCA were correlated (r = -0.756,-0.728;0.651,0.672; 0.726,0.695,P ＜0.05).ConclusionMSCT measurements for basilar invagination before and after surgery are helpful for understanding changes of osteal posterior fossa anatomy and comprehensive evaluation of surgical treatment.

Identiifcation of tissues/body lfuids in forensic science is important for criminal cases investigation such as crime scene reconstruction, conclude the character of crime. Recently, many researches of Epigenetic shows that tissue speciifc differentially methylated regions(tDMRs) have the ability to as a biomarker for identiifcation of tissues/body lfuids. In this paper, we reviewed the study progress and summarized the probability, advantage and disadvantage as well as application value and the development direction of the application of DNA methylation in the aspect of identifying the tissues/ body lfuids source, aiming at providing a reference for the related research and application.

Objective To explore the clinical value of renal dynamic imaging and urinary N-acetyl-?-D-glucosaminidase(NAG),apoptosis DNA fragment(ADF) in evaluating the damage degree of hydronephrotic kidneys(HnK) in children with hydronephrosis.Methods Level of glomerular filtration rate(GFR) was detected in 41 children with congenital hydronephrosis by renal dynamic imaging,and urine NAG,ADF in pelvis in HnK and healthy kidneys (as controls) were detected by enzyme-linked immuno-sorbent assay(ELISA).Patholo-gic changes of HnK in 41 children were graded intoⅠ~Ⅴ according to Elder standard. And GFR,urinary NAG and ADF of HnK were divi-ded into subgroup according to pathologic changes ,at the same time statistical analysis was performed within each groups. And the correlations of pathologic grades with GFR,urinary NAG and ADF of HnK were analyzed.Results 1.Kindneys GFR in healthy kidneys and Hnk were (174.33?20.43)?10-3 L/min,(143.86?17.51)?10-3 L/min respectinely,and there was significant difference between healthy kidneys and Hnk (P0.05).3.There was significant negative correlation between GFR levels of HnK and pathologic grades(r=-0.814 P0.05).Conclusions For hydronephrotic kidneys,urinary NAG can eva-luate impaired nephric tubule whereas renal dynamic imaging may evaluate the damage level of glomeruli;urine ADF may not indicate the damage level of diseased kidneys in children with congenital hydronephrosis.

Objective To evaluate the diagnostic value of bedside video electroencephalogram (VEEG) in neonatal within 6 h after birth in diagnosing hypoxic-ischemic encephalopathy ( HIE) and the correlation of bedside VEEG results and early neural and behavioral development. Methods Neonatal severe asphyxia cases were collected and bedside VEEG and HIE were recorded and graduated. The sensitivity and specificity of different VEEG degrees within 6 h after birth were calculated in prognosing HIE degree. The sensitivity and specificity of abnormal VEEG performed within 6 h, the third day and the seventh day after birth, respectively, were compared in prognosing HIE. Neonatal behavior neurological assessment (NBNA) was performed at 7 to 14 days of age, EEG and general movements assessment (GMs), developmental screening test for child under six(DST) when patients were 3 months old, and EEG, Bayley scales of infant development(BSID) at 6 months old to analyze the correlation of bedside VEEG results and early neural and behavioral development. Results Forty-eight severe asphyxia neonatal were included, among which 12 severe asphyxia and 36 HIE, including 14 mild, 12 moderate and 10 severe HIE. There were nine normal and 39(81. 3%) abnormal VEEG including 16 mild, 11 moderate, five severe abnormal and seven inactive VEEG within 6 h after birth. There were 32(88. 9%) abnormal VEEG within 6 h after birth in 36 HIE patients. Significant positive correlation was found between VEEG within 6 h after birth and HIE (r= 0.849, P<0. 01). Severe abnormal and inactive EEG within 6 h after birth showed sensitivity of 100%, specificity of 94. 7% in predicting severe HIE. The sensitivity of VEEG testing at 6 h,3 and 7 d in predicting HIE were 88. 9%, 83. 9% and 28. 6% , correspondingly the specificity were 41.7%, 91. 7% and 100%, respectively. Nine patients with continually abnormal VEEG died in hospital. The NBNA scores of patients with moderate and severe abnormal EEG were significantly lower than those with normal EEG (both P<0. 01), the NBNA scores of patients with severe abnormal EEG were significantly lower than those with moderate abnormal EEG (P<0. 05). Thirty-five patients were followed up in the hospital at 3 months old, and 32 patients had DST >85 and three had DST between 70 and 84 with abnormal EEG. GMs assessment of one of the three patients showed absence of fidget movements, cuing a chance of cerebral palsy. Fourteen patients were followed up in hospital at 6 months old, and seven of them had abnormal EEG, four had abnormal BSID with abnormal EEG. Conclusions VEEG within 6 h after birth shows high sensitivity and specificity in prognosing HIE, and much relates to short-term neural and behavior development.

Objective To analyze the epidemiological features and influencing factors of human brucellosis in Qinghai province,and to provide scientific basis for prevention and control of brucellosis.Methods From 2006 to 2010,select the high incidence areas of brucellosis in Qinghai province and five counties(Henan,Dari,Tianjun,Ping'an and Haiyan counties) included in the “Central Subsidies to Local Public Health Special Fund Human Brucellosis Prevention and Control Projects” for the survey point,as well as high-risk employees from Qinghai Biological Pharmaceutical Factory were investigated.Combined with epidemiological questionnaire investigation [done according to the “National Human Brucellosis Surveillance Program(Trial)”],clinical symptoms and signs,confirmed human brucellosis patient were tested by intradermal allergy test,rose bengal plate agglutination test(RBPT) and standard tube agglutination test (SAT),in accordance with “Diagnostic Criteria and Principles of Management of Brucellosis” (GB 15988-1995) and“Diagnostic Criteria for Brucellosis” (WS 269-2007).Results Of 8368 serum samples detected,347 were RBPT positive,and the positive rate was 4.15％;5346 serum samples were tested by SAT,180 were positive,and the positive rate was 3.37％.In June 2009,112 employees in Qinghai Biological Pharmaceutical Factory were investigated on a follow-up survey,83 were RBPT positive,the positive rate was 74.11％; 58 were SAT positive,the positive rate was 51.79％.Eight of them were new cases and 4 were chronic brucellosis.Twenty five new cases were reported between 2006 and 2010.The peak incidence was from March to July.Most of the cases were herdsmen.ConclusionStrengthening animal quarantine,strengthening public education,and improving protection awareness,can effectively control the disease brucellosis.

In order to authenticate the components of antler powder in the market, DNA barcoding technology coupled with cloning method were used. Cytochrome c oxidase subunit I (COI) sequences were obtained according to the DNA barcoding standard operation procedure (SOP). For antler powder with possible mixed components, the cloning method was used to get each COI sequence. 65 COI sequences were successfully obtained from commercial antler powders via sequencing PCR products. The results indicates that only 38% of these samples were derived from Cervus nippon Temminck or Cervus elaphus Linnaeus which is recorded in the 2010 edition of "Chinese Pharmacopoeia", while 62% of them were derived from other species. Rangifer tarandus Linnaeus was the most frequent species among the adulterants. Further analysis showed that some samples collected from different regions, companies and prices, contained adulterants. Analysis of 36 COI sequences obtained by the cloning method showed that C. elaphus and C. nippon were main components. In addition, some samples were marked clearly as antler powder on the label, however, C. elaphus or R. tarandus were their main components. In summary, DNA barcoding can accurately and efficiently distinguish the exact content in the commercial antler powder, which provides a new technique to ensure clinical safety and improve quality control of Chinese traditional medicine

Objective To study the effects of inhibing AKT2 by siRNA on SMMC7721 liver cancer cells proliferation,apoptosis,migration and invasion.Methods The siRNA targeting AKT2 was designedandthe SMMC7721AKT2- siRNAplasmidwasconstructed andtransfected into SMMC7721 cells.The stable cell lines were screened by G418.The effects of AKT2 by siRNA on SMMC7721 liver cancer cells,growth inhibition was evaluated by MTT assay.Cell cycle was analyzed by flowcytometry (FCM).Protein of P27 and CyclinD1 was evaluated by Western-blot.The ability of migration and invasion was evaluated by wound healing and Transwell assay.ResultsThe growth of SMMC7721 cells was significantly inhibited by siRNA (P＜0.05).Flow cytometry display that AKT2 by siRNA can induce G1 phase arrest,the ratio of G1 phase increased homologously and S phase declined homologously.The protein of CyclinD1 was declined and the protein of P27 was increased by Western-blot.Wound healing and Transwell assay show that the ability of cells,migration and invasion was inhibited by AKT2 by siRNA.Conclusion AKT2 by siRNA can significantly inhibit the growth of SMMC7721 cells,arrest cell cycle.AKT2 by siRNA can inhibit the ability of invasion and migration of SMMC7721 cells.

In order to authenticate the components of antler powder in the market, DNA barcoding technology coupled with cloning method were used. Cytochrome c oxidase subunit I (COI) sequences were obtained according to the DNA barcoding standard operation procedure (SOP). For antler powder with possible mixed components, the cloning method was used to get each COI sequence. 65 COI sequences were successfully obtained from commercial antler powders via sequencing PCR products. The results indicates that only 38% of these samples were derived from Cervus nippon Temminck or Cervus elaphus Linnaeus which is recorded in the 2010 edition of "Chinese Pharmacopoeia", while 62% of them were derived from other species. Rangifer tarandus Linnaeus was the most frequent species among the adulterants. Further analysis showed that some samples collected from different regions, companies and prices, contained adulterants. Analysis of 36 COI sequences obtained by the cloning method showed that C. elaphus and C. nippon were main components. In addition, some samples were marked clearly as antler powder on the label, however, C. elaphus or R. tarandus were their main components. In summary, DNA barcoding can accurately and efficiently distinguish the exact content in the commercial antler powder, which provides a new technique to ensure clinical safety and improve quality control of Chinese traditional medicine
Animals ; Antlers ; DNA Barcoding, Taxonomic ; Deer ; Medicine, Chinese Traditional ; Polymerase Chain Reaction ; Powders ; Quality Control