OBJECTIVETo identify the antithrombin (AT) phenotype and gene mutation of a kindred with hereditary antithrombin deficiency.

METHODSPlasma AT activity and AT antigen level of the propositus and his kindred members were determined with chromogenic substrate method and immunoassay, respectively. All the seven exons and intron-exon boundaries of antithrombin gene were analyzed by PCR and direct sequencing of amplified PCR products from the propositus.

RESULTSThe propositus AT antigen level was normal but his AT activity was only 65% of normal value suggesting that he had type II AT deficiency. A heterozygous G13830A mutation in exon 6 resulting in Arg393His missense mutation in his AT polypeptide was identified in the propositus. The same phenotype and gene mutation were found in other 3 kindred members.

CONCLUSIONThe type II AT deficiency found in this kindred is caused by heterozygous G13830A mutation in AT gene.

Adult ; Antithrombin III ; genetics ; metabolism ; Antithrombin III Deficiency ; genetics ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree

Objective To study the first-time killing efficacy and the chain-killing efficacy of four gel baits against Blattella germanica: 1% chlorpyrifos, 0.05% fipronil, 2.15% imidacloprid, and 0.5% dinotefuran and provide a basis for drug selection in controlling Blattella germanica. Methods Laboratory killing efficacy test was conducted according to the national standard GB/T 13917.7-2009 and the chain-killing efficacy test was conducted for three rounds.The first round of chain efficacy test was conducted by feeding the cockroaches killed in the laboratory efficacy test, and each next round by feeding the cockroaches killed in the last round.Median lethal time (LT₅₀), 95% confidence limit, and toxicological regression equation of each test were calculated by software DPS V9.01. Results The LT₅₀ of the efficacy test with 1% chlorpyrifos gel bait was 0.745 5 (0.603 4-0.890 3) d.The LT₅₀ of the first, second and third chain experiments increased by 3.30, 2.18 and 2.76 times, respectively.The LT₅₀ of the efficacy test with 0.05% fipronil gel bait was 0.846 5(0.464 7-1.228 0)d, and increased by 5.42, 2.09 and 1.48 times, respectively, in the first, second and third chain experiments.The LT₅₀ of the efficacy test with 2.15% imidacloprid gel bait was 3.192 1(2.865 0-3.506 0)d, and increased by 1.13, 1.65 and 1.15 times, respectively in the first, second and third chain experiments.The LT₅₀ of the efficacy test with 0.5% dinotefuran gel bait was 0.997 1(0.805 8-1.191 6) d, and increased by 3.85, 1.37 and 1.78 times, respectively in the first, second and third chain experiments. Conclusion In the laboratory killing efficacy test, 1% chlorpyrifos, 0.05% fipronil, and 0.5% dinotefuran gel baits are better than 2.15% imidacloprid gel bait.In the chain-killing efficacy test, 2.15% imidacloprid and 0.5% dinotefuran gel baits are better than 1% chlorpyrifos and 0.05% fipronil gel baits.Based on our results, we recommend the use of 0.5% dinotefuran gel bait for comprehensive and sustained killing effect.

Ph chromosome occurs in nearly all patients with CML, and eliminating Ph-positive clone is a major target in the treatment of CML. IFN-alpha is a well-known effective treatment in chronic phase CML. The cytogenetic response and the prognostic factors in 128 CML patients treated with IFN-alpha were retrospectively studied. IFN-alpha administered singly at a dose of 3 million U/day for 2 - 3 times a week or in combination with either hydroxyurea (Hu), busulfan (Bu), low dose Ara-C or harringtonine. Karyotyping was examined by G-banding before and after IFN-alpha-based treatment. The results showed that all patients achieved complete hematological remission. Cytogenetic response occurred in 36 of 118 patients with standard t (9;22) translocation; 3 of these 36 patients had a complete cytogenetic response (Ph = 0), 13 had major cytogenetic responses (Ph < 35%) and 20 had minimal response (Ph > 35%). The total cytogenetic effectiveness was 13.6% (16/118). Four of seven patients with complicated variant translocation also achieved cytogenetic response, 2 of them had a major cytogenetic response and 2 had minimal response. Factors influenced the prognosis associated with cytogenetic response included sex, patient status at diagnosis and IFN-alpha administered singly or in combination with other chemotherapeutic agents. IFN-alpha could not prevent the progression of CML. It is concluded that Ph(+)CML patients with both standard and variant translocation had major cytogenetic response to IFN-alpha treatment at a dose of 6 - 9 million U/week in single or combination with Hu/Bu, however, IFN-alpha treatment could not prevent disease progression. Long term survival was also observed in patients with variant translocation treated with IFN-alpha. Regular cytogenesis examination in CML patients is necessary during IFN-alpha therapy, which is useful to reflect curative effect and progression of the disease.
Adolescent ; Adult ; Aged ; Antineoplastic Agents ; therapeutic use ; Chromosome Aberrations ; Chromosomes, Human, Pair 22 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Cytogenetic Analysis ; Female ; Humans ; Interferon-alpha ; therapeutic use ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; drug therapy ; genetics ; pathology ; Leukemia, Myeloid, Chronic-Phase ; drug therapy ; genetics ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Translocation, Genetic ; Treatment Outcome

This study was purposed to construct three siRNA eukaryotic expression vector specific to mouse Qa-1 gene, to investigate its silencing effect on Qa-1 gene and to select the most efficient siRNA plasmid specific to mouse Qa-1 gene. Three siRNA peptides specific to mouse Qa-1 through siRNA Web design tools of Ambion company were chosed. Jingsai Company helped to complete the siRNA eukaryotic expression vector. The mouse NIH3T3 cells cultured in RPMI 1640 medium with 10% fetal bovine serum were divided into four groups: three groups of the cells were transfected with lipofectamine 2000 reagent and three different siRNA eukaryotic expression vectors, while one group cells were transfected with lipofectamine 2000 reagent alone as negative control. Cells were collected at 24, 48, 72 hours after transfection; the RNA level of Qa-1 was detected by RT-PCR, and the expression position was examined with flow cytometry analysis by using anti-Qa-1 monoclonal antibody. The results indicated that the constructed three siRNA eukaryotic expression vectors were found to be specific to mouse Qa-1 gene. The sequence analysis showed that the sequence was identical to what chosed from web tools. NIH3T3 cells in vitro were adhered in culture that cell shape appeared to change after transfection. RT-PCR and flow cytometry analysis by using anti-Qa-1 monoclonal antibody approved that both Qa-1 RNA and the expression of Qa-1 on cell surface decreased. The decreased levels in the three groups were different. At 24, 48 and 72 hours, the expression of Qa-1 on NIH3T3 cells decreased as in the following: H2-T231: 60.9%, 81.9%, 43.6%; H2-T232: 64.5%, 73.9%, 61.1%; H2-T233: 61.9%, 71.2%, 47.5%. H2-T232 was most efficient one in all three time points. It is concluded that all three siRNA eukaryotic expression vectors selected can successfully suppress the expression of the Qa-1, and from them H2-T232 is most efficient.
Animals ; Base Sequence ; Cells, Cultured ; Gene Silencing ; Genetic Vectors ; Histocompatibility Antigens Class I ; genetics ; Mice ; NIH 3T3 Cells ; Plasmids ; RNA, Small Interfering ; genetics ; Transfection

OBJECTIVETo investigate the relationship between the biological features and the treatment efficacy and prognosis in acute myeloid leukemia subtype M2 (AML-M2) patients with chromosome 8 and 21 translocation.

METHODSBy using Cox regression model and Kaplan-Meier analyses, prognostic factors in 54 cases of de novo adult AML with t(8;21) in our institute from 1990 to 2003 were retrospectively analyzed.

RESULTThe complete remission (CR) rates were 81.9% for all M2 patients, 82.4% for patients with normal karyotype, 88.5% for patients with t(8;21) [P > 0.05 for normal karyotype vs t(8;21)], 100.0% for 28 patients with t(8;21) alone and 75.0% for 24 patients with additional chromosome abnormalities (P < 0.01). The actuarial 3 year overall survival(OS) was 26% for M2 patients with normal karyotype, 25% for patients with t(8;21) [P > 0.05 for normal karyotype vs t(8;21)], in whole t(8;21) group, 46.4% for patients with t(8;21) alone and 0% for patients with additional chromosome abnormalities (P < 0.01). Multivariate analysis of prognostic factors showed that chromosome abnormalities besides t(8;21) was the only factor affecting CR, disease-free survival (DFS) and OS. DFS of allogeneic hematopoietic stem cell transplantation (HSCT) and intermediate-dose cytarabine/high dose cytarabine (IDAC) groups were better than the group received routine dose cytarabine as postremission therapy (P < 0.01).

CONCLUSIONAML with t(8;21) is not a single defined AML subset, and patients with additional chromosome abnormalities have a worse prognosis. HSCT and IDAC could improve the outcome. HSCT is the best choice for patients with high risks, especially with additional chromosome abnormalities.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia, Myeloid, Acute ; drug therapy ; genetics ; surgery ; therapy ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Translocation, Genetic

OBJECTIVETo explore the relation of angiotensin-converting enzyme (ACE) gene polymorphism, angiotensin II type I receptor (ATIR) gene polymorphism and other factors on cerebral infarction.

METHODSOne thousand three hundred fifty-one subjects from Tangshan coalmine were enrolled with study method of cluster sampling. Face to face interviews were conducted to fill in questionnaires by trained interviewers. ACE gene, ATIR gene and inflammation factors including tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), IL-8, IL-10, C reactive protein (CRP), fibrinogen (Fg), fibrin monome polymerized velocity (FMPV), absorbance maximum (A(max)), FMPV/A(max), were measured.

RESULTSNo different prevalence rates of ACE genotype were found on cerebral infarction. The distributions of AA genotype of ATIR gene in the cerebral infarction was higher than that of the controls. The prevalence of AA genotype was higher than other groups, but the prevalence of combined genotype did not show much difference. Under the existence of factors that related to cerebral infarction, AA genotype frequencies were higher than those of non-smoking and with hypertension. IL-6, ATIR gene polymorphism, sex, FMPV/A(max) were strongly related to cerebral infarction. The level of IL-6 was higher than the normal ones.

CONCLUSIONSThe prevalence of cerebral infarction obviously increased in the hypertensive groups having AA genotype of ATIR gene. In the cerebral infarction groups, the level of IL-6 was higher than that in the normal population, indicating that these can be resulted from local inflammation and immunity reactivity. Environmental and genetic factors in the pathogenesis of cerebral infarction might have coordinating functions.

Aged ; Cerebral Infarction ; genetics ; Cross-Sectional Studies ; Female ; Genotype ; Humans ; Logistic Models ; Male ; Middle Aged ; Peptidyl-Dipeptidase A ; genetics ; Polymorphism, Genetic ; Receptor, Angiotensin, Type 1 ; genetics

Objective To ohserve the rat myocardial damage induced by citreoviridin(CIT)in the status of combined selenium and protein deficiency.Methods According to 2×2 factorial design,forty 4-week-old healthy Wistar rats were randomly divided into four groups.i.e.combined selenium and protein adequate with no CIT and with some CIT groups(Se+Pro+CIT-.Se+Pro+CiT+),combined selenium and protein deficiency with no CIT and with some CIT groups(Se-Pro-CIT-,Se-Pro-CIT+).The numbers of male and female were fifty-fifty.Theserats were fed with combined selenium and protein adequate and combined selenium and protein deficiency fodder until the 16th week. Cardiac toxicity of CIT was evaluated by general state of health, heart weight index, myocardial pathological change, the levels of selenium and the activities of glutathion peroxidase (GSH-Px) and creatine kinase (CK) in serum, and the activity of superoxide dismutase(SOD) of myocardium. Results The interaction effects of combined selenium and protein deficiency and adequate CIT on body weight, serum levels of selenium and albumin, heart weight index, the activities of CK and GSH-Px in serum and SOD of myocardium were statistically not significant(F= 0.000, 1.210, 0.625, 0.981, 2.785, 0.074, 0.001, all P> 0.05). The main effects of combined selenium and protein on the levels of serum selenium and albumin, heart weight index and the activity of GSH-Px in serum were statistically significant(F = 507.698, 87.734, 4.201, 109.389, all P < 0.05). The main effects of CIT on body weight, the levels of serum selenium and albumin, heart weight index and the activity of CK in serum were statistically significant(F = 10.929, 4.371, 26.108, 24.844, 4.439, all P < 0.05). The mean levels of serum selenium of Se-Pro- groups [(70.4 ± 40.0), (87.7 ± 59.6 )μg/L] were lower than those of Se+Pro+ groups [(446.1 ± 74.8),(502.1 ± 39.2)μg/L, all P < 0.05]. The mean levels of serum albumin of Se-Pro- groups [(34.36 ± 1.28 ), (33.38 ±2.48)g/L] were lower than those of Se+Pro+ groups[(40.69 ± 1.30), (38.71 ± 2.15)g/L, all P < 0.05]. The mean levels of heart weight index of CIT+ groups[(4.14 ± 0.36) × 10-3, (4.39 ± 0.53) x 10-3] were higher than those of CIT-groups[(3.56 ± 0.26) x 10-3, (3.80 ± 0.28) x 10-3, all P < 0.05] respectively at the same levels of selenium and protein. The mean levels of CK in serum of Se-Pro-CIT+ group[(2.54 ± 0.56)kU/L] was lower than that of Se-Pro-CIT- group [(3.37 ± 0.67 )kU/L, P < 0.05]. The mean levels of activity of GSH-Px in serum of Se-Progroups[(408.1 ± 412.6), (510.5 ± 392.0)U/L] were lower than those of Se+Pro+ groups[(1667.8 ± 102.2),(1731.5 ± 144.4)U/L, all P < 0.05]. In Se+Pro+CIT+ group, there was part of intercalary disc of cardiac myocytes fragmented;the conjunctions between myoeytes were broken;in some region, cardiac myocytes became edematous,even dissolved. In Se-Pro-CIT- group, the change of cardiac myocytes membrane structures was not obvious;filament structure was disappeared around nucleus;deposition of mass floccule could be seen. In Se-Pro-CIT+ group,the structure of sarcomeres was not obvious;mitochondrial cristae was loosened;cavities in myocytes could be seen occasionally;there were lots of disseminated sareoplasmic reticulum extending. Conclusions .CIT is the main risk factor in inducing myocardial damage. The deficiency of combined selenium and protein can aggravate the damage,but its independent pathogenic effect is weak.

ObjectiveTo clarify the causative effect of citreoviridin toxins(CIT) as well as nutritional deficiency of selenium and protein on rat myocardial injury at biochemical level.Methods According to 2 × 2 factorial design,48 healthy male Wistar rats aged 4-week were randomly divided into four groups:exposed to CIT along with nutritional deficiency of selenium and protein,nutritional deficiency of selenium and protein,exposed to CIT and control groups.After the rats in each group began to be fed with selenium and protein deficiency and(or) adequate fodder for 3 months,8 mg/kg body weight of CIT was fed daily to the rats in the two CIT toxin groups for two months.After that the CIT dose was raised up to 10 mg/kg body weight each day within the final 2 weeks.At the experimental endpoint,all the rats were sacrificed by femoral artery bleeding after ether anesthesia,and serum and heart specimens were collected for biochemical analysis by detecting serum Tn-Ⅰ and albumin,serum activities of CK and GSH-Px,myocardial SOD and T-AOC.ResultsThe interactions between Se & protein and CIT in rat final body weight,serum albumin,and Tn-Ⅰ was observed(F=8.186,6.160,19.183,all P＜ 0.05),whereas interactions in rat body weight of 12 weeks,serum GSH-Px,CK as well as myocardial SOD,T-AOC activity were not found (F=1.633,1.987,0.075,0.474,1.145,all P ＞ 0.05).Under the nutritional deficiency of selenium and protein,serum albumin and Tn-Ⅰ level in the groups with CIT toxin[ (42.88 ± 1.19) g/L,(668.6 ± 55.8) ng/L,respectively]were lower than that of the group without CIT toxin[ (47.59 ± 1.05)g/L,(989.3 ± 49.2)ng/L,respectively,all P ＜0.05].The main effects of selenium and protein on rat body weight of 12 weeks,serum GSH-Px,myocardial SOD and T-AOC were statistically significant between different groups (F =96.860,58.086,4.475,25.485,all P ＜ 0.05).Rat body weights of 12 weeks in the two groups of nutritional deficiency of selenium and protein[ (186.33 ± 7.89),(197.83 ± 7.89)g] were all lower than others[ (274.08 ± 7.89),(265.42 ± 7.89)g,all P ＜ 0.05]; serum GSH-Pxs in the two groups of nutritional deficiency of selenium and protein[ (317.5 ± 102.6),(296.9 ± 90.5)U/L] were all lower than others[ (926.1 ± 110.9),( 1181.7 ± 85.9)U/L,all P ＜ 0.05] ; myocardial SODs in the two groups of nutritional deficiency of selenium and protein [ (65.22 ± 5.91 ) × 106, (62.68 ± 5.61 ) × 106 U/kg] were all lower than others [(74.07 ± 7.24) × 106, (80.07 ± 5.91) × 106 U/kg,all P＜ 0.05]; myocardial T-AOCs in the two groups of nutritional deficiency of selenium and protein[ (1.138 ± 0.086) × 106,(0.806 ± 0.081 ) × 106 U/kg] were all lower than others[(1.688 ± 0.105) × 106,(1.163 ± 0.086) × 106 U/kg,all P ＜ 0.05].Conclusions Animal model with selenium and protein deficiency is successfully established.However,the results of biochemical index tested in the experimental rats show no regularity effect,which needs to be checked again in the future study.

ObjectiveTo observe the morphological feature of myocardial changes in adult rat exposed to citreoviridin(CIT) with selenium and protein deficiency.MethodsAccording to 2 × 2 factorial design,48 healthy male Wistar rats aged 4-week were randomly divided into four groups:group Ⅰ (Se-Pro-CIT+,low selenium and low protein plus CIT group),group Ⅱ (Se-Pro-CIT-,low selenium and low protein without CIT group),group Ⅲ (Se+Pro+CIT+,adequate selenium and adequate protein plus CIT group),and group Ⅳ (Se+Pro+CIT-,adequate selenium and adequate protein without CIT group),12 rats in each group.After one week of normal adaptive feeding,all the rats were fed with selenium and protein deficiency feed for 2 months,and then the animals in group Ⅰ and group Ⅲwere fed with 8 mg·kg-1 ·d-1 of CIT for 2 more months,after that the CIT dose was increased to 10 mg·kg-1 ·d-1 for the final 2 weeks.At the end of the experiment,all the rats were sacrificed by femoral artery bleeding,and body and heart weight were measured.Heart weight index was calculated and histopathological changes were observed under light microscope.Results Heart weight indexes of the 4 groups(Se-Pro-CIT+,Se-Pro-CIT-,Se+Pro+CIT+ and Se+Pro+CIT- groups) were (3.65 ± 0.45) × 10-3,(3.05 ± 0.19) × 10-3,(3.83 ± 1.06) × 10-3 and (3.31 ± 0.52) × 10-3,respectively.The results of factorial analysis showed that the effects of CIT on heart weight index were statistically significant(F =8.524,P ＜ 0.05 ),the effects of Se + Pro were not statistically significant(F =1.347,P ＞ 0.05),and there were no interactions between the two factors (F =0,048,P ＞ 0.05).Morphologically,tissue fibrosis around branch coronary artery in group Ⅰ rats,plenty of cardiocyte pycnosis in group Ⅱ,and myocardial scattered necrotic foci in group Ⅲ were observed,accompanied by inflammatory cell infiltration in group Ⅲ,and normal myocardial structure in group Ⅳ rats.Conclusions Citreoviridin plays a major role in causing myocardial injury( degeneration and necrosis) and CIT combined with selenium and protein deficiency can aggravate the

[ Objective ] To assess the resistance risk of Culex pipiens pallens to pyriproxyfen in Culexpipiens pallens, to predict the rate of resistance development and to provide the reference for scientific and rational application of insecticides. [ Methods ] The resistance strain was developed by group selection, and the realized heritability ( h2 ) of Culex pipiens pallens resistance to deltamethrin was estimated by Tabashnik's method. [ Results] The resistance of Culex pipiens pallens to pyriproxyfen had increased by 5.69-fold after 12 generations of indoor breeding, and the h2 of Culex pipiens pallens to pyriproxyfen was 0.02, indicating that a relatively risk of resistance development. [ Conclusion] The results indicate that Culex pipiens pallens has resistance risk to pyriproxyfen, so the application of the insecticide must be scientific and rational.