OBJECTIVETo investigate the impact of polymorphisms of DNA homologous recombination (HR) repair genes RAD51-G135C and XRCC3-C241T on the prognosis of acute myeloid leukemia (AML) with inv(16)/t(16;16)(CBFbeta-MYH1).

METHODSOne hundred and three de novo inv(16)/t(16;16) (CBFbeta-MYH11) AML patients were followed-up and retrospectively analyzed. Polymorphisms of RAD51-G135C and XRCC3-C241T were detected by PCR-RFLP. The prognostic factors,including sex, age, white blood cell count, platelet count, hemoglobin level, karyotype, KIT mutation, RAD51-G135C and XRCC3-C241T polymorphisms at diagnosis, for complete remission (CR) achievement, overall survival (OS) and relapse-free survival (RFS) were analyzed by univariate and multivariate analyses.

RESULTSThe median follow-up of all patients was 28 (1 - 106) months. The overall CR rate was 92.2%. The estimated 5-year OS and RFS rates were 43.6% (95% CI 37.7% - 49.5%) and 26.4% (95% CI 21.1% - 31.7%), and the median OS and RFS were 53 (95% CI 133.4 - 72.7) and 27 (95% CI 22.9 - 31.1) months, respectively. In multivariate analysis, higher WBC (P = 0.004) and older than 30 years of age (P = 0.035) were independent poor factors for CR achievement, the XRCC3-241T variant (P = 0.007) and higher WBC (P = 0.009) were independent poor factors for 5-year RFS, and higher WBC (P = 0.002) and trisomy 8 (P = 0.035) were independent poor factors for 5-year survival. Polymorphism of RAD51-G135C had no significant impact on the prognosis.

CONCLUSIONThe XRCC3-241T variant is an independent poor prognostic factor for AML with inv(16)/t(16;16)/CBFbeta-MYH11.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Chromosome Inversion ; Chromosomes, Human, Pair 16 ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Karyotype ; Leukemia, Myeloid, Acute ; diagnosis ; genetics ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Polymorphism, Single Nucleotide ; Prognosis ; Rad51 Recombinase ; genetics ; Young Adult

OBJECTIVETo investigate the relationship between DNA homologous recombination (HR) repair genes RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia (AML) with recurrent chromosome translocation.

METHODSGenomic DNA was extracted from bone marrow cells of 625 de novo AML patients and peripheral blood cells of 806 patient family members and 704 unrelated volunteers. Genotypes of RAD51-G135C and XRCC3-C241T were analyzed by PCR-RFLP. Cell lines with genotypes differed from XRCC3-C241T were selected and irradiated in vitro. The CBFβ-MYH11 fusion gene was detected by TaqMan real-time PCR.

RESULTSThe XRCC3-C241T variant (C/T + T/T) showed 6.22-fold and 6.99-fold increase in the risk of developing the AML with inv(16)/t(16;16)/CBFβ-MYH11 as compared with the volunteer and family member controls respectively; the RAD51-G135C homozygote-type (C/C) variant showed 0.87-fold (P = 0.010) and 1.15-fold (P = 0.001) respectively increase in the risk of this subtype AML. In the irradiated group, the CBFβ-MYH11 mRNA level in HL-60 cells was 59.49 times increased than that in KG1a cells. However, the RAD51-G135C and XRCC3-C241T variants had no correlations with the risk of development of t(15;17)/PML-RARα(+)AML, t(8;21)/AML1-ETO(+) AML and 11q23 AML subtypes.

CONCLUSIONThe XRCC3-C241T variant and the RAD51-G135C homozygote-type significantly increase the risk of the development of AML with inv(16)/t(16;16)/CBFβ-MYH11.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Child ; Child, Preschool ; DNA-Binding Proteins ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Leukemia, Myeloid, Acute ; etiology ; genetics ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Polymorphism, Single Nucleotide ; Rad51 Recombinase ; genetics ; Translocation, Genetic ; Young Adult

OBJECTIVETo study the safety, effectiveness and feasibility of suprapubis-assisted umbilical laparoendoscopic mini-dual-site surgery (SAU-LEMDS) in the treatment of varicocele.

METHODSThis study included 80 varicocele patients aged 24 - 44 (mean 28.5 +/- 2.6) years, 25 cases of grade I, 45 cases of grade II and 10 cases of grade III, 58 cases in the left side, 6 in the right and 16 in both sides, and all with asthenospermia. The patients were treated by SAU-LEMDS under subarachnoid anesthesia combined with general anesthesia in a supine position with a head-down-feet-up slope of 15 degrees. Two 5 mm trocars were inserted bilaterally at the umbilical edge, one with a 5 mm 30 degrees laparoscope placed in it, and another into the abdominal cavity below the pubic hairline with a 5 mm laparoendoscopic clipper placed in it. The operation procedure was similar to that of standard laparoscopic ligation of spermatic veins, with reservation of the spermatic artery and double-ligation of spermatic veins. And the procedure was repeated for the contralateral lesion in the bilateral cases. Postoperative follow-up was conducted for the incidences of orchiatrophy and testicular hydrocele and changes of seminal parameters.

RESULTSAll the operations were successful, with the mean operation time of (10 +/- 5.0) min (range 8 to 25 min) for the unilateral cases and (18 +/- 6.5) min (range 15 to 30 min) for the bilateral cases, the mean blood loss of (1.5 +/- 0.5) ml (range 1 to 2 ml), and the mean postoperative hospital stay of (2 +/- 0.5) d (range 1.5 to 3 d). The patients were followed up for 6 -24 (12 +/- 2.5) months, which showed significant improvement in sperm motility as compared with the baseline ([28.53 +/- 5.21] vs [19.62 +/- 3.56]%, P < 0.05), with 28 cases (35.0%) restored to normal. Recurrence was found in 4 cases (5.0%). Testicular hydrocele occurred in 7 cases (8.75%), but orchiatrophy in none. The scars in the umbilicus and suprapubis were invisible because of the wrinkles and pubic hair.

CONCLUSIONSAU-LEMDS is safe, effective and feasible for the treatment of varicocele. It is superior to umbilical laparoendoscopic single-site surgery (U-LESS) for its less invasiveness, simpler operation, and better cosmetic appearance.

Adult ; Asthenozoospermia ; Humans ; Laparoscopy ; adverse effects ; methods ; Length of Stay ; Ligation ; methods ; Male ; Operative Time ; Postoperative Period ; Recurrence ; Spermatic Cord ; blood supply ; Testicular Hydrocele ; etiology ; Treatment Outcome ; Umbilicus ; Varicocele ; surgery ; Veins

OBJECTIVETo analyze the complete remission (CR) rate, disease free survival (DFS) and overall survival (OS) of de novo acute myeloid leukemia (AML) patients treated with HA based three drugs induction chemotherapy and to explore the impact of cytogenetic abnormalities on the prognosis.

METHODSTwo hundred and forty-three untreated de novo AML patients were treated with HA based three drugs induction therapy. CR rate, DFS and OS were calculated. One hundred and eighty-four patients who had karyotype results were divided into four or three groups according to SWOG or MRC criteria respectively. Differences in CR rate, DFS and OS among different groups were evaluated.

RESULTSThe CR rate of all the 243 cases was 77.4%. The median DFS of the 188 CR patients was 28.5 (ranged from 1.0 to 153.0) months, DFS rates at 3 and 5 years were 45.4% and 40.2% respectively. The median OS of the 243 patients was 18.4 (range from 0.5 to 154.0) months. OS rates at 3 and 5 years were 36.9% and 31.4% respectively. According to SWOG criteria, CR rate, median DFS and OS were 97.8%, 87.4 months and 89.0 months for the favorable group; 81.9%, 17.6 months and 22.3 months for the intermediate group; 61.5%, 9 months and 11.5 months for the adverse group; and 79.3%, 29.0 months, 19.9 months for the unknown group, respectively. The differences among the four groups were statistically significant (P < 0.001). According to MRC criteria, CR rate, median DFS and OS were 96.1%, 79.9 months, 72.2 months for the favorable group; 80%, 17.6 months, 19.7 months for the intermediate group; and 43.8%, 16.5 months, 12 months for the adverse group, respectively. The differences among the three groups were statistically significant excepting for DFS between intermediate and adverse groups.

CONCLUSIONSHA based triple-drug induction regimens are highly effective in obtaining higher CR rate and longer survival time. Cytogenetics is the important prognostic factor for AML patients and SWOG karyotype subtyping criteria is more appropriate than that of MRC, the differences among the three groups being statistically significant.

Adolescent ; Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Child ; Cytarabine ; administration & dosage ; Disease-Free Survival ; Female ; Follow-Up Studies ; Harringtonines ; administration & dosage ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; drug therapy ; genetics ; Male ; Middle Aged ; Prognosis ; Remission Induction ; Retrospective Studies ; Treatment Outcome

Objective To investigate the clinical efficacy and prognosis of bipolar radiofrequency ablation for atrial fibrillation in patients with cardiac valve disease.Methods Sixty patients with atrial fibrillation and valvular heart diseases who merely underwent cardiac valve surgery were selected as the control group,and seventy-five patients who underwent bipolar radiofrequency ablation modified Maze procedure along with concomitant cardiac valve surgery were selected as the observation group.The perioperative technological characteristics and postoperative restoration of sinus rhythm in different time-points of the two groups were retrospectively analyzed.Results There was no significant differences in terms of the surgical pathway and types of replaced cardiac valves (P ＞ 0.05),but the cardiopulmonary bypass time and aortic-cross clamping time of the observation group were significantly longer than those in the control group(P ＞ 0.05).Successful restoration of sinus rhythm in the observation group was significantly higher than that of the control group 3 months,6 months,and 1 year after operation respectively.Conclusion Bipolar radiofrequency ablation modified Maze procedure along with concomitant cardiac valve surgery is clinically effective during the short term for the patients with atrial fibrillation and valvular heart diseases.

The objective of this study was to investigate the correlation between the gene polymorphisms of drug metabolizing enzymes and the outcome of the first induction chemotherapy in patients with de novo acute myeloid leukemia (AML). 113 de novo AML patients were enrolled in this study. The genotypes of 11 single nucleotide polymorphisms (SNP) in drug metabolizing enzymes were detected by the SNPstream(®) Genotyping System. The correlation between the distribution of genotypes and the complete remission rate of first induction chemotherapy was analyzed by logical regression. The results showed that patients with variant genotype of CYP2D6 (rs16947) had a lower complete remission (CR) rate, as compared to those with wild type (p = 0.033, OR = 0.32, 95%CI 0.112 - 0.915); meanwhile the patients with variant genotype of GSTO2 (rs156697) had a higher CR rate as compared to those with wild type (p = 0.011, OR = 3.023, 95%CI 1.289 - 7.089). Combined analysis of the above polymorphisms, showed that patients with variant genotype of CYP2D6 and wild genotype of GSTO2 (V + W) had lower CR rates in comparison to patients with wild genotypes of both polymorphisms (p = 0.017, OR = 0.183, 95%CI 0.045 - 0.735). It is concluded that CYP2D6 (rs16947) and GSTO2 (rs156697) polymorphisms are independent factors influencing CR rates of the first induction chemotherapy in de novo AML patients.
Adolescent ; Adult ; Aged ; Antineoplastic Agents ; therapeutic use ; Child ; Cytochrome P-450 CYP2D6 ; genetics ; Female ; Genotype ; Glutathione Transferase ; genetics ; Humans ; Leukemia, Myeloid, Acute ; drug therapy ; enzymology ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Remission Induction ; Treatment Outcome ; Young Adult

OBJECTIVETo analyze coincidence rate of acute myeloid leukemia (AML) sub-typing between transmission electron microscopy (TEM) and clinical discharge diagnosis.

METHODSReviewing sub-typing results of TEM, light microscopy, flow cytometric analyzing, molecular biological detection and karyotype in 793 AML cases, comparing their coincidence rates with discharge diagnosis to reveal advantages of AML sub-typing by TEM.

RESULTSGeneral coincidence rates of TEM, light microscopy, flow cytometric analyzing, molecular biological detection and karyotype on AML sub-typing were 63%, 59%, 52%, 47%, 26% and 23% respectively, and clinical coincidence rates of TEM on M1, M2a, M4 and M5, M6, M7, t (8; 21) and t (15; 17) were 39%, 34%, 17%, 74%, 50%, 73%, 87% and 89% respectively.

CONCLUSIONTEM has a higher coincidence rate in general AML sub-typing, especially strong screenings on t (15; 17), t (8; 21), M7, M5 and M6, but lower coincidence rates on M1, M2a and M4 sub-typing than other methods.

Humans ; Leukemia, Myeloid, Acute ; classification ; diagnosis ; Microscopy, Electron, Transmission ; Retrospective Studies

CD59 is a glycosyl-phosphatidyl inositol-anchored protein with the capacity to block the formation of membrane-attack complex, and protect the cells from complement-mediated cytolysis. The study was aimed to investigate whether CD59 is deficient in acute promyelocytic leukemia (APL) blast cells. Expression of CD59 on APL blast cells was analysed by flow cytometry. Expression of CD59 on NB4 cells was determined by flow cytometry before and after treating with all trans retinoic acid (ATRA). Pig-A gene coding region was sequenced. The results showed that the deficiency of CD59 expression in 12 out of 19 APL samples was found, its incidence was significantly higher than that in other acute myeloid leukemia (AML) samples (deficiency of CD59 expression in 14 of 40 non-APL AML samples, p=0.042). The expression of CD59 became normal after the patients achieved complete remission (CR), which indicated that the deficient of CD59 expression was only found in APL blast cells, but also found in APL cell line NB4 cells. The expression of CD59 was not changed after NB4 cells were induced to differentiate by ATRA. Sequencing pig-A gene coding region of NB4 cells and one APL patient with deficiency of CD59 displayed that the mutation of pig-A gene was not observed, therefore the deficiency of CD59 expression in APL cells did not result from mutation of pig-A gene. It is concluded that the deficiency of CD59 expression exists in APL blast cells more probably.
Adolescent ; Adult ; CD59 Antigens ; genetics ; metabolism ; Female ; Humans ; Leukemia, Promyelocytic, Acute ; genetics ; metabolism ; Male ; Membrane Proteins ; metabolism ; Middle Aged ; Tretinoin ; pharmacology ; Tumor Cells, Cultured ; Young Adult

OBJECTIVETo explore the relationship between the optical density index of serum aspergillus galactomannan (GM) assay and invasive aspergillosis (IA).

METHODSFrom Jan 2008 to Dec 2011, 825 hematological diseases patients with neutrophil count <0.5×10⁹/L⁹ by continuous blood count tests were admitted into our hospital. The optical density index of GM assay was ≥0.5 at least once. Of 825 patients, 247 cases were manifested as fever during hospitalization. The optical density index of GM antigen was detected by enzyme-linked immunosorbent assay, and the sensitivity and specificity of optical density ranged in 0.5-1.5.

RESULTSIn this study, the sensitivity and specificity of GM assay with continuous twice samples (73% and 93%, respectively) were higher than single sample (66% and 80%, respectively) when optical density index ≥1.0. 69 cases were diagnosed as proven IA with the incidence rate of 8.36%.

CONCLUSIONThe cut-off level for serum GM antigen assay should be decided as optical density index in two continuous samples of ≥1.0.

Adolescent ; Adult ; Aged ; Antigens, Fungal ; blood ; Aspergillosis ; blood ; diagnosis ; etiology ; Enzyme-Linked Immunosorbent Assay ; Female ; Hematologic Diseases ; blood ; microbiology ; Humans ; Male ; Mannans ; blood ; immunology ; Middle Aged ; Sensitivity and Specificity ; Young Adult