2.A novel mutation-L539fs/47 of hERG in a Chinese long QT syndrome family
Jiangfang LIAN ; Xiaoyan HUANG ; Weifeng XU ; Xi YANG ; Ying WANG ; Di LI ; Jianqing ZHOU
Journal of Pharmaceutical Analysis 2010;22(3):188-191
Objective To identify the mutation of human ether-a-go-go-related gene (hERG) and analyze the clinical characteristics of a Chinese family with long ST syndrome (LQTS). Methods The electrocardiogram and DNA samples were obtained from a Chinese LQTS family of 26 members. Genotype was performed with polymorphic short tandem repeat (STR) markers at the known LQT1, LQT2, and LQT3 loci. SSCP analysis was used to find aberrant conformers. hERG mutation was confirmed by cloning and sequencing. Results Three gene carriers were linked to chromosome 7q35-36, where the potassium channel gene hERG was encoded. A 19-base pair deletion was identified. The mutation was located at nucleotide position 1 619-1 637 between transmembrane domains S4 and S5. Furthermore, A1692G polymorphism was found both in the normal control and patients. Conclusion A novel 19 bp deletion mutation of hERG is identified in a Chinese family. All gene carriers are demonstrated to be typical LQT2 ECG phenotype.
3.Repair of lower extremity soft tissue defect with free musculo-cutaneous flaps bridging with healthy contralateral posterior tibial vessel.
Xia CHENGDE ; Di HAIPING ; Xue JIDONG ; Zhao YAOHUA ; Li XIAOLIANG ; Li QIANG ; Niu XIHUA ; Li YONGLIN ; Lian HONGKAI
Chinese Journal of Plastic Surgery 2015;31(3):183-187
OBJECTIVETo observe the clinical effects of free musculo-cutaneous flap bridging with contralateral posterior tibial vessel on repair of lower extremity soft tissue defect.
METHODSFrom February 2006 to June 2013, 10 patients with soft tissue defect on lower shank and foot were included. The posterior tibial vessel on healthy lower extremity was chosen as recipient vessel and anastomosed with free latissimus dorsi musculo-cutaneous flap, or free latissimus dorsi musculo-cutaneous flap combined with thoracic-umbilical skin flap or anterolateral femoral musculo-cutaneous flap. The retrograde bridged flap was transposed to repair defect on contralateral lower shank and foot. The wound area ranged from 40 cm x 21 cm to 22 cm x 15 cm, with flap size from 48 cm x 26 cm to 25 cm x 18 cm. Meanwhile the defects on donor sites were covered with skin graft and both lower extremities were fixed with kirschner wires at middle tibia and calcaneus. The kirschner wires were removed at 4 weeks and pedicles were cut off 5-8 weeks postoperatively. Six patients received posterior tibial vessel reanastomosis at the same time of pedicle cutting.
RESULTSAll the 10 flaps survived and 3 patients received thinning of flaps due to excessive thickness. During the follow-up period of 3 months to 2 years follow up, the ambulatory function of injured legs recovered gradually with satisfactory appearance. The reanastomosed posterior tibial vessel on the healthy side was recovered.
CONCLUSIONSAppropriate bridged musculo-cutaneous flaps is suitable for extensive soft tissue defect of lower shank and foot. It is a safe and effective method for limb salvage.
Foot ; Free Tissue Flaps ; transplantation ; Humans ; Lower Extremity ; Skin Transplantation ; Soft Tissue Injuries ; surgery ; Wound Healing
4.Gastric dynamics analysis of TEAS combined SNP induced general anesthesia when controlled hypotension dropped to 60% of the MAP baseline.
Le-Le ZHANG ; Jian-Qiao FANG ; Xiao SHAO ; Lin-Li LIAN ; Xiao-Jing YU ; Zhen-Hua DONG ; Ya-Di MO
Chinese Journal of Integrated Traditional and Western Medicine 2015;35(1):98-103
OBJECTIVETo observe the effect of gastric dynamics by transcutaneous electrical acupoint stimulation (TEAS) combined general anesthesia when controlled hypotension dropped to 60% of the mean arterial prenssure (MAP) baseline, and to provide experimental evidence for organ protection in clinical controlled hypotension.
METHODSEighteen male beagles were randomly divided into three groups, the general anesthesia group (blank), the general anesthesia induced controlled hypotension group (control), and the general anesthesia combined TEAS induced controlled hypotension group (experiment), 6 in each group. Controlled hypotension was performed in the latter two groups with isoflurane inhalation and intravenous injection of sodium nitroprusside (SNP). The mean arterial pressure (MAP) was lowered to 60% of the MAP baseline and kept for 60 min. Controlled hypotension was not performed in Beagles of the control group. For Beagles in the experiment group, TEAS [2/100 Hz, (4 ± 1) mA] was applied to bilateral Hegu (LI4), Quchi (LI11), Zusanli (ST36), and Sanyinjiao (SP6) from stable physiological conditions to the end of maintaining stages. Changes of EGG frequencies and EGG amplitudes were monitored. Serum levels of gastrin (GAS) and motilin (MTL) were also detected at corresponding time points during and after experiment.
RESULTSAs for the pressure control effect of TEAS combined general anesthesia in the controlled hypotension, during the process of controlled hypotension (T1-T4), MAP levels of two controlled pressure groups remained relatively stable, and were kept at 60% of the MAP baseline. When the blood pressure dropped to the target low MAP and maintained at 60 min (T1-T4), EGG amplitudes of Beagles in all the three groups showed decreasing tendency. But it was more obviously lower than its basic level in the control group (P <0.05), while it was not obviously decreased in the experiment group (P < 0.05). EGG frequencies of Beagles in all the three groups showed no obvious change during this stage. By the end of the MAP rising stage (T8), the EGG amplitude of the experimental group was significantly higher than that of the control group and the blank group (P < 0.05), while it didn' t show any obvious increase in the control group. During this period, EGG frequencies of the two controlled hypotension groups decreased more than those of the blank group. Two h after rising blood pressure (at T9), EGG amplitudes and frequencies in the two controlled hypotension groups basically restored to their respective baselines and levels of the blank group at T9. At 2 h (T9) after controlled hypotension, serum levels of GAS and MTL were lower than those of basic levels in the two controlled hypotension groups (P <0.05). However, serum levels of GAS and MTL had an increasing trend in the two controlled hypotension groups at 24-72 h (T10-T12). Besides, the increasing speed and amplitude was better in experiment group than in the control group at T10-T12. However, there was no statistical difference between the two groups (P > 0.05). At 72 h (T12) serum levels of GAS and MTL had basically restored to their basic levels in the two controlled hypotension groups and that of the blank control group.
CONCLUSIONEGG amplitudes could be effectively improved in TEAS combined general anesthesia for controlled hypotension at 60% of the MAP baseline, the recovery of the serum GAS level accelerated, gastric power improved and stomach protected.
Acupuncture Points ; Anesthesia ; methods ; Anesthesia, General ; Animals ; Arteries ; Dogs ; Gastrins ; Hypotension, Controlled ; Male ; Motilin ; Nitroprusside ; Transcutaneous Electric Nerve Stimulation
5.Virtual screening for natural CETP inhibitors by structure-based pharmacophore.
Xiao-qian HUO ; Lian-sheng QIAO ; Lu-di JIANG ; Yu-su HE ; Gong-yu LI ; Yan-ling ZHANG
China Journal of Chinese Materia Medica 2015;40(15):3063-3067
Cholesterol ester transfer protein (CETP) is a key regulator of high density lipoprotein (HDL). Owing to its important role in the reverse of cholesterol transport, CETP has become a hotspot target in modulating lipid drug design. In this paper, structure based pharmacophore (SBP) models for CETP inhibitors were built based on the protein structure 4F2A from Protein Database (PDB). The best pharmacophore contained six hydrophobic features, one hydrogen bond acceptor feature and nine excluded volume features, with the N and CAI value was 3.33 and 2.31 respectively. Then the model was used to search the traditional Chinese medicine database (TCMD) and 629 compounds originated from 315 TCM herbs were obtained. Molecular docking was also used to validate SBP by analyzing the critical amino acid residue and the interaction between potential active compounds and receptor. In this study, several TCM herbs, like Lycii Frutus and Schisandrae chinensis fructus, which contained more optimal SBP based screening results, have been reported hypolipidemic effect, and need to be studied deeply in a more focused research on herbal active constituents. Therefore, this study could provide reliable fundamental data for exploring the action mechanisms of TCM, and be applicable to identify lead candidates, which can be utilized as starting scaffolds for natural CETP inhibitors.
Cholesterol Ester Transfer Proteins
;
antagonists & inhibitors
;
Drug Evaluation, Preclinical
;
methods
;
Medicine, Chinese Traditional
;
Molecular Docking Simulation
6.Investigation on the Consistency of Five Measurement Systems for Serum Lipids
Qian DI ; Ling QIU ; Lian HOU ; Jun DONG ; Fang ZHAO ; Pengchang LI ; Kai WANG ; Xinqi CHENG ; Xiuzhi GUO
Journal of Modern Laboratory Medicine 2016;31(3):36-42,47
Objective To explore achieving the consistent method of blood lipid examination by comparing the results of 5 dif-ferent blood lipid detection system commonly used in the use of refernce method to assign freach blood serum before and af-ter calibration.Methods Used the indoor quality control total variation (CV%)to evaluate the 5 blood lipid examination system of the imprecision.Referenced the United States Clinical and Laboratory Standardization Institution (CLSI)9A2 EP program,compared with 54 fresh blood serum in 5 commonly used examination system of Total Cholesterol (TC)and Tri-glyceride (TG),and then estimated the bias between the different detection systems and mean value.8 of the samples were determined by the reference method and estimate the bias of different system.The fresh frozen serum samples assigned by reference method were used to evaluate the above examination system,then compare and estimate the bias again with the same 54 fresh serum samples.Compared the variation of 54 samples in different detection system before and after calibra-tion.Results The TG imprecision of 5 examination system were between 3.76%~23.65%,the TC imprecision between 2.19%~23.43%,that mean the results were good,the r value of TG were between 0.996 7~0.999 6 and the TC were 0.956 2~0.996 7.But there were obvious differences between the results of the systems,and the biggest difference were 14.72%~34.21% in TG and 3.11%~14.57% in TC.After use the serum assignment by reference method,the variation of the systems has been significantly decreased.Conclusion Using the reference method to assign the fresh serum of different blood lipid detection system can effectively improve the consistency of the results.
7.A novel mutation of the KCNH2 gene in a family with congenital long QT syndrome.
Jiangfang LIAN ; Jianqing ZHOU ; Xiaoyan HUANG ; Ying WANG ; Xi YANG ; Di LI
Chinese Journal of Medical Genetics 2010;27(1):77-80
OBJECTIVETo perform mutation analysis in a family with long QT syndrome.
METHODSThe medical record of the affected child and his parents were collected. The locus of gene associated with the long QT syndrome was mapped by linkage analysis. Mutation analysis was done by PCR-single strand conformation polymorphism (SSCP) and direct sequencing.
RESULTSA mutation (L539fs/47) and a SNP (L564L) were found in exon 7 of the KCNH2 gene of the proband. The mutation was from the father.
CONCLUSIONA novel mutation of L539fs/47 in the KCNH2 gene was identified in the LQTS family, which might be the disease-causing mutation for the family.
Base Sequence ; ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; genetics ; Female ; Frameshift Mutation ; Humans ; Long QT Syndrome ; congenital ; genetics ; Male ; Molecular Sequence Data ; Pedigree ; Polymorphism, Single Nucleotide ; Young Adult
8.Clinical study of application of platform switching to dental implant treatment in esthetic zone.
Qian LI ; Ye LIN ; Li-xin QIU ; Xiu-lian HU ; Jian-hui LI ; Ping DI
Chinese Journal of Stomatology 2008;43(9):537-541
OBJECTIVETo evaluate the clinical results of dental implant treatment with platform switching technique in esthetic zone and to investigate its technical characteristics.
METHODSSeventeen patients who were partially edentulous in esthetic zone were included and received a total of 26 Frialit-2 system implants in Center of Dental Implantation, Peking University School and Hospital of Stomatology from January to December 2001, and the platform switching technique was applied. The mean follow-up time was 56.3 months (24 to 74 months). Clinical examination and X-ray were conducted.
RESULTSClinical results of all implant restoration that used platform-switched abutments were satisfied. No implant loss or other severe complications occurred. The medians of marginal bone loss 1 year and 5 years after final restoration was 0.13 (-0.12 - 0.55) mm and 0.27 (-0.04 - 0.77) mm respectively. The medians of interimplant crestal bone resorption was 0.14 (0.00 - 0.30) mm and 0.21 (0.09 - 0.31) mm after 1 year and 5 years' functional loading respectively. According to Jemt classification of papilla, 23 sites reached II degree, and 10 sites reached III degree among 36 sites 5 years after prostheses. The mean value of pink esthetic score (PES) was 11.8 (10 - 14).
CONCLUSIONSPlatform switching is a simple and reliable technique for dental implant treatment, helping to control marginal bone loss and ensure an esthetic results in the esthetic zone.
Adult ; Alveolar Bone Loss ; surgery ; Dental Implantation ; methods ; Esthetics, Dental ; Female ; Humans ; Male ; Middle Aged ; Young Adult
9.Application of matrix assisted laser desorption ionization-time of flight-mass spectrometry in detecting K-ras gene mutation of colorectal cancer.
Jia-di XING ; Lian-hai ZHANG ; Jing-jing LI ; Zi-yu LI ; Xiang-qian SU ; Jia-fu JI
Chinese Journal of Gastrointestinal Surgery 2013;16(1):80-83
OBJECTIVETo investigate the clinical value of matrix assisted laser desorption ionization-time of flight-mass spectrometry (MALDI-TOF-MS) in detecting K-ras gene mutation.
METHODSSixty-one paraffin-embeded specimens of colorectal cancer were selected. MALDI-TOF-MS and regular sequencing were used to test the mutation of codon 12 and 13 in K-ras exon 2.
RESULTSOnly 47 specimens could be detected successfully in regular sequencing, while all the specimens were tested successfully in MALDI-TOF-MS. Fourteen specimens had K-ras mutation in regular sequencing (30.0%), while 22 specimens had mutation in MALDI-TOF-MS (36.1%). Six specimens with mutation were found in MALDI-TOF-MS but were wild-type in regular sequencing. Same mutation types from 14 specimens were confirmed by both regular sequencing and MALDI-TOF-MS. MALDI-TOF-MS was able to detect the mutation in 2 specimens that was not identified in regular sequencing.
CONCLUSIONSMALDI-TOF-MS is a feasible approach of K-ras gene mutation testing in colorectal cancer, which is less demanding in terms of specimen quality and is more sensitive as compared to regular sequencing.
Colorectal Neoplasms ; genetics ; Genes, ras ; Humans ; Mutation ; Sensitivity and Specificity ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; methods
10.Lovastatin changes activities of lactate dehydrogenase A and B genes in rat myocardial cells.
Wei-Zao GUO ; Hong JI ; Zhi-Hong YAN ; Lin LI ; Di LI ; Cui-Lian LU
Chinese Medical Journal 2011;124(3):423-428
BACKGROUNDLactate dehydrogenase (LDH) is a crucial regulator of energy metabolism in many organs including the heart. Lovastatin is widely used in prevention and treatment of coronary heart disease and is a drug with substantial metabolic influences. Our study aimed to determine the activities of the lactate dehydrogenase A and B (LDHA and LDHB) genes following lovastatin treatment.
METHODSThe rat myocardial cell line H9c2(2-1) in culture was exposed to 100 nmol/L lovastatin for 24 hours or for five days. The functions of the LDHA and LDHB genes were examined at the transcriptional (mRNA) level with quantitative real-time polymerase chain reaction (Q-RT-PCR), and at the translational (protein) level with immunoblotting.
RESULTSWhen compared with control levels, the LDHA mRNA went up by (151.65 ± 16.72)% (P = 0.0132) after 24 hours and by (175.28 ± 56.54)% (P = 0.0366) after five days of lovastatin treatment. Although 24 hours of lovastatin treatment had no significant effects on LDHB mRNA levels, when the treatment was extended to five days, LDHB mRNA levels were significantly down-regulated to (63.65 ± 15.21)% of control levels (P = 0.0117). After 24 hours of treatment with lovastatin, there were no significant changes in protein levels of either LDHA or LDHB. When treatment time was extended to five days, the protein levels of LDHA were up-regulated by (148.65 ± 11.81)% (P = 0.00969), while the protein levels of LDHB were down-regulated to (64.91 ± 5.47)% of control levels (P = 0.0192).
CONCLUSIONSLovastatin affects gene activities of LDHA and LDHB differently, which may reveal novel pharmacological effects of lovastatin.
Animals ; Anticholesteremic Agents ; pharmacology ; Blotting, Western ; Cell Line ; Isoenzymes ; genetics ; metabolism ; L-Lactate Dehydrogenase ; genetics ; metabolism ; Lovastatin ; pharmacology ; Myocytes, Cardiac ; drug effects ; enzymology ; Rats ; Reverse Transcriptase Polymerase Chain Reaction