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Liu T.,Capital Medical University | Liu Q.,Capital Medical University | Wang Y.-X.,Capital Medical University | Yang D.,Capital Medical University | And 4 more authors.
Chinese Medical Journal | Year: 2010

Background: A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to investigate the feasibility of use of amniocytes to diagnose 22q11.2 microdeletion syndrome prenatally. Methods: The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method. Results: The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation. Conclusion: Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11.2 microdeletion syndrome is technically feasible using amniocytes. Source


Li Y.,Ministry of Health Beijing Hospital | Zhu J.,Henan Provincial Corps Hospital of Chinese Peoples Armed Police Force | Ding J.,Henan Provincial Corps Hospital of Chinese Peoples Armed Police Force
Medical Science Monitor | Year: 2015

Background: VKORC1 is reported to be capable of treating several diseases with thrombotic risk, such as cardiac valve replacement. Some single-nucleotide polymorphisms (SNPs) in VKORC1 are documented to be associated with clinical differences in warfarin maintenance dose. This study explored the correlations of VKORC1–1639 G/A, 1173 C/T and 497 T/G genetic polymorphisms with warfarin maintenance dose requirement in patients undergoing cardiac valve replacement. Material and Methods: A total of 298 patients undergoing cardiac valve replacement were recruited. During follow-up, clinical data were recorded. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied to detect VKORC1–1639 G/A, 1173 C/T and 497 T/G polymorphisms, and genotypes were analyzed. Results: Correlations between warfarin maintenance dose and baseline characteristics revealed statistical significances of age, gender and operation methods with warfarin maintenance dose (all P<0.05). Warfarin maintenance dose in VKORC1–1639 G/A AG + GG carriers was obviously higher than in AA carriers (P<0.001). As compared with patients with TT genotype in VKORC1 1173 C/T, warfarin maintenance dose was apparently higher in patients with CT genotype (P<0.001). Linear regression analysis revealed that gender, operation method, method for heart valve replacement, as well as VKORC1–1639 G/A and 1173 C/T gene polymorphisms were significantly related to warfarin maintenance dose (all P<0.05). Conclusions: VKORC1 gene polymorphisms are key genetic factors to affect individual differences in warfarin maintenance dose in patients undergoing cardiac valve replacement; meanwhile, gender, operation method and method for heart valve replacement might also be correlate with warfarin maintenance dose. © Med Sci Monit, 2015. Source


Li Y.,Ministry of Health Beijing Hospital | Zhu J.,Henan Provincial Corps Hospital of the Chinese People Armed Police Force | Ding J.Q.,Henan Provincial Corps Hospital of the Chinese People Armed Police Force
Genetics and Molecular Research | Year: 2015

We aimed to confirm the correlations between rs2359612 and rs9923231 single nucleotide polymorphisms (SNPs) in the vitamin K epoxide reductase complex subunit 1 (VKORC1) gene and the risk of cardiovascular and cerebrovascular diseases (CCVDs) using meta-analysis. Electronic databases were exhaustively searched for relevant case-control studies by employing stringent inclusion and exclusion criteria. Manual retrieval was also conducted to obtain additional pertinent literature. The STATA statistical software was employed for the process of evidence synthesis. The initial literature search broadly identified 225 studies relevant to our topic of interest, and after multiple rounds of screening, 10 clinical case-control studies met the final inclusion criteria and were selected for this meta-analysis. The selected studies represented a combined total of 7329 patients with CCVD and 7951 healthy controls. Our meta-analysis demonstrated that the VKORC1 rs2359612 and rs9923231 SNPs were closely associated with high risk for CCVD (rs2359612: allelic: OR = 1.23, 95%CI = 1.00- 1.50, P = 0.047; dominant: OR = 1.32, 95%CI = 1.19-1.46, P < 0.001; rs9923231: allelic: OR = 0.74, 95%CI = 0.63-0.87, P < 0.001; dominant: OR = 0.67, 95%CI = 0.55-0.82, P < 0.001). Our meta-analysis provides strong evidence that two SNPs in the VKORC1 gene, rs2359612 and rs9923231, contribute to the risk of CCVD. © FUNPEC-RP. Source


Li Y.,Ministry of Health Beijing Hospital | Zhu J.,Henan Provincial Corps Hospital of The Chinese Peoples Armed Police Force | Ding J.Q.,Henan Provincial Corps Hospital of The Chinese Peoples Armed Police Force
Genetics and Molecular Research | Year: 2015

This meta-analysis investigated the correlation between the PPARγ2 Pro12Ala polymorphism and cardiovascular disease (CVD). Electronic database and manual searches were conducted to retrieve studies published relevant to the PPARγ2 Pro12Ala polymorphism and CVD. Rigorous inclusion and exclusion criteria were employed for selection of high-quality patients-control studies. Statistical data analyses on allelic, dominant, homozygous, heterozygous, and recessive inheritance models were performed using the R 3.1.0 and Stata 12.0 software. We enrolled 12 case-control studies consisting of 10,189 patients with CVD [1070 with myocardial infarction (MI), 7849 with coronary artery disease (CAD), and 1270 with acute coronary syndromes (ACS)] and 17,899 controls. The results of meta-analyses revealed that the PPARγ2 Pro12Ala (rs1801282) polymorphism was correlated with a higher risk of CVD under both allelic and dominant models, while no statistical significance was found under homozygous, heterozygous, or recessive models. Subgroup analysis based on disease showed that the PPARγ2 Pro12Ala (rs1801282) polymorphism was correlated with a higher risk of MI under both allelic and dominant models, while no statistical significance was found for association with CAD or ACS under allele or dominant models. Furthermore, under homozygous, heterozygous, and recessive models, the PPARγ2 Pro12Ala (rs1801282) polymorphism had no statistically significant association with MI, CAD, or ACS. The results of this meta-analysis suggest that the PPARγ2 Pro12Ala (rs1801282) polymorphism might be correlated with a higher risk of CVD, particularly MI, and could serve as an important early indicator for CVD. ©FUNPEC-RP. Source


Huang S.,Peking University | Peng W.,Ministry of Health Beijing Hospital | Tian X.,Peking University | Liang H.,Peking University | And 4 more authors.
Journal of Anesthesia | Year: 2015

Background: Transcutaneous electrical acupoint stimulation (TEAS), a non-invasive and non-pharmacological adjunctive intervention for perioperative analgesia, may also reduce the incidence of postoperative pulmonary complications. The effect of TEAS on video-assisted thoracic surgical (VATS) patients is still unknown, however. The purpose of this study was to investigate the effects of TEAS of different frequency on perioperative anesthetic dosage, recovery, complications, and prognosis for patients undergoing VATS lobectomy. Methods: Eighty VATS lobectomy patients with no previous experience of TEAS or acupuncture were randomly assigned to four groups: control (con), 2/100, 2, and 100 Hz. The last three experimental groups received TEAS at the indicated frequencies for 30 min before induction, during the operation, and for another 30 min 24 and 48 h after surgery. 2/100 Hz is a type of alternating frequency which goes between 2 and 100 Hz every 3 s. TEAS was administered over acupoints Neiguan, Hegu, Lieque, and Quchi on the sick lateral. Electrodes were applied to the patients in the control group, but no TEAS was used. Anesthetic dosage, blood gas analysis results, lung function indexes FEV1 and FVC, post-anesthesia care unit (PACU) status, postoperative complications, and quality of life scores were recorded and analyzed statistically. Results: Intraoperative opioid consumption was lowest in the 2/100 Hz group, with statistical significance (con, P ≤ 0.001; 2 Hz, P ≤ 0.001; 100 Hz, P = 0.026). Compared with preoperative FEV1 and FVC, postoperative FEV1 and FVC were significantly lower in all groups; during one-lung ventilation, arterial oxygen partial pressure (PaO2) decreased more slowly in the 2/100 Hz group than in the con group (P = 0.042). Moreover, in the 2/100 Hz group extubation time was shorter (P = 0.038), visual analgesia scale score lower (P = 0.047), and duration of PACU stay shorter (P = 0.043) than in the con group. In the 100 Hz group incidence of postoperative nausea and vomiting (PONV) was lower than the con group (P = 0.044). In all groups mean postoperative physical component scores were significantly lower than mean preoperative scores. Conclusions: TEAS is a safe noninvasive adjunctive intervention for anesthesia management among patients undergoing VATS lobectomy. TEAS at 2/100 Hz can reduce intraoperative opioid dosage and slow the decrease of PaO2 during one-lung ventilation. It can also effectively reduce pain score, extubation time, and PACU stay immediately after surgery. Further, 100 Hz TEAS can reduce PONV morbidity. © 2015 Japanese Society of Anesthesiologists Source

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