2.A population genetic study of 22 autosomal loci of single nucleotide polymorphisms.
Jian-pin TANG ; Feng-hui JIANG ; Mei-sen SHI ; Chuan-chao XU ; Rui CHEN ; Xiao-pin LAI
Chinese Journal of Medical Genetics 2012;29(6):720-722
OBJECTIVETo evaluate polymorphisms and forensic efficiency of 22 non-binary single nucleotide polymorphism (SNP) loci.
METHODSOne hundred ethnic Han Chinese individuals were recruited from Dongguan, Guangdong. The 22 loci were genotyped with matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS).
RESULTSNine loci were found with a single allele, 4 loci were found to be biallelic, whilst 9 loci were found to have 3 alleles. For 13 polymorphic loci, the combined discrimination power and power of exclusion were 0.999 98 and 0.9330, respectively. For the 9 non-biallelic loci, the combined discrimination power and power of exclusion were 0.9998 and 0.8956, respectively. For motherless cases, the combined power of exclusion was 0.6405 for 13 polymorphic SNPs and 0.6405 for 9 non-binary SNPs.
CONCLUSIONNon-binary loci have a greater discrimination power and exclusion power per SNP.
Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Gene Frequency ; Genetic Load ; Genetics, Population ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide
3.Molecular investigation of a possible case of HIV transmission after a blood transfusion.
Li-li SHI ; Qi ZHAO ; Yan JIANG ; Pin-liang PAN ; Gui-yun ZHANG ; Mao-feng QIU
Chinese Journal of Preventive Medicine 2013;47(5):427-430
OBJECTIVEA molecular technique based on quasispecies analysis for tracing postexposure HIV transmission was applied in an investigation of a possible case of HIV transmission after blood transfusion.
METHODSSixteen plasma specimens were collected from 3 HIV infections (T1-T3) involved in a possible HIV transmission chain and 13 HIV/AIDS (C1-C13) controls. The RNAs were extracted and then amplified by RT-PCR, the PCR products were cloned and sequenced.BioEdit 6.0.7 and MEGA 4.0 software were used to analyze gene sequences, calculate gene dispersion ratio and construct phylogenetic tree.
RESULTSThe sequences of 13 specimens were successfully obtained.The HIV strains from T1, T2 and T3 were CRF07_BC recombinants, those from 5 out of the 6 controls lived in the same city with T2 and T3 were CRF07_BC recombinants as well, while those from 4 controls living in the same city with T1 were CRF01_AE recombinants. Compared with the clone sequences from T1, the mean gene dispersion ratio of T2 was the least (2.0%), followed by C12 (2.8%) , T3 (2.9%) and others. The phylogenetic tree showed that all clones from T1, T2, T3 and C12 might cluster together,and implied that the direction of HIV transmission was from T3 to T2, and then to T1.
CONCLUSIONThe results support the possible epidemiological clue that HIV was transmitted from T3 to T2, and then to T1, indicating that molecular epidemiological investigation could provide more direct evidence for tracing postexposure HIV transmission.
Female ; HIV ; genetics ; HIV Infections ; epidemiology ; genetics ; transmission ; Humans ; Male ; Molecular Epidemiology ; Phylogeny ; RNA, Viral ; genetics ; Sequence Analysis, RNA ; Transfusion Reaction
5.Application of intraoperative real-time ultrasound combined with neuronavigation for resetting deep Intracranial lesions
Tao JIANG ; Xian-Ming FU ; Xiao-Feng JIANG ; Chao-Shi NIU ; Ying JI ; Xiang-Pin WEI ; Guang-Qun LI
Chinese Journal of Neuromedicine 2009;8(8):832-835,838
Objective To evaluate the application of intraoperative real-time ultrasound combined with neuronavigation in surgical resection of deep intracranial lesions. Methods Fifteen patients with deep intracranial lesions underwent surgical resection of the lesions with guidance by Brain-Lab neuronavigation and intraoperative real-time ultrasound. The lesions were localized by ultrasound, and in cases of brain shift, intraoperative real-time ultrasound was used for lesion relocalization, surgical guidance, and monitoring of the tumor remnants during the operation. Results The lesions and their surrounding structures were accurately localized. Intraoperative real-time ultrasound identified brain shift of varying degrees, which was corrected under ultrasound guidance. Total resection of the lesions was achieved in 12 cases, and subtotal resection was performed in 2 cases. In the other case, the inflammatory lesion was identified as chronic granuloma by biopsy. All the patients showed improvements of the clinical symptoms after the operations. Conclusion Intraoperative real-time ultrasound during neuronavigation allows accurate localization of deep intracranial lesions and facilitates preoperative surgical planning to define the scope of resection, avoid the cortical brain tissue and important deep structures, and help evaluate the lesion residues for a second operation. Intraoperative real-time ultrasound may help improve the therapeutic effects and reduce the surgical complications.
6.Directed shift of vaginal flora after topical application of sucrose gel in a phase III clinical trial: a novel treatment for bacterial vaginosis.
Zhong-ming ZENG ; Qin-pin LIAO ; Chen YAO ; Li GENG ; Li-hua FENG ; Hui-rong SHI ; Xiao-yan XIN ; Ping LI ; Hui-lan WANG ; Yi-cun PANG ; Shu-wen LIU ; Shi-bo JIANG
Chinese Medical Journal 2010;123(15):2051-2057
BACKGROUNDBacterial vaginosis (BV) is one of the most common infectious diseases among sexually active women and is associated with the increased acquisition of a variety of sexually transmitted diseases. This study aimed to compare the efficacy of a non-antibiotic sucrose gel against an antibiotic metronidazole gel for the treatment of BV.
METHODSA randomized, double-blinded, multi-center, parallel-group, placebo-controlled phase III clinical trial was conducted at eight hospitals in China. A total of 560 subjects with clinically diagnosed BV were randomly assigned into three groups for vaginally receiving sucrose, metronidazole, and placebo gels, respectively, twice daily for five consecutive days. The efficacy of therapeutic cure, defined as an achievement of both microbiologic cure (a Nugent score of 3 or less) and clinical cure (a resolution of the clinical findings from the baseline visit), was evaluated at the 1st and 2nd test-of-cure (TOC) visits at 7-10 and 21-35 days after the start of treatment, respectively.
RESULTSTherapeutic cure rates for sucrose, metronidazole, and placebo gel groups were 83.13%, 71.30% and 0.92%, at the 1st TOC, and 61.04%, 66.67% and 7.34%, at the 2nd TOC, respectively. While there was no significant difference between the sucrose and metronidazole gel groups at the 2nd TOC (P = 0.305), and sucrose gel was more effective than metronidazole gel at the 1st TOC (P = 0.009).
CONCLUSIONThese findings suggest that sucrose gel restores normal vaginal flora more rapidly than metronidazole gel and can be used as a novel treatment for BV.
Administration, Intravaginal ; Adolescent ; Adult ; Anti-Bacterial Agents ; administration & dosage ; therapeutic use ; Double-Blind Method ; Female ; Humans ; Metronidazole ; administration & dosage ; therapeutic use ; Middle Aged ; Sucrose ; administration & dosage ; therapeutic use ; Treatment Outcome ; Vaginosis, Bacterial ; drug therapy ; Young Adult
7.Immunohistochemical study of perivascular epithelioid cell neoplasms.
Qiu-Yuan XIA ; Qiu RAO ; Qin SHEN ; Biao LIU ; Li LI ; Qun-Li SHI ; Shan-Shan SHI ; Bo YU ; Ru-Song ZHANG ; Heng-Hui MA ; Zhen-Feng LU ; Xuan WANG ; Pin TU ; Xiao-Jun ZHOU
Chinese Journal of Pathology 2013;42(6):381-385
OBJECTIVETo study the clinicopathologic features, immunophenotype and genetic changes of perivascular epithelioid cell neoplasms (PEComa).
METHODSA total of 25 cases of PEComa located in various anatomic sites were selected for immunohistochemical staining (SP or EnVision method). TFE3 fluorescence in-situ hybridization was also performed to determine the TFE3 gene status.
RESULTSThe age of patient ranged from 21 to 61 years (mean = 43 years). The male-to-female ratio was 1: 1.3. Histologically, 22 cases represented conventional angiomyolipomas, composed of a mixture of adipose tissue, spindle element, epithelioid smooth muscle cells and abnormal thick-walled blood vessels in various proportions. Three cases involving lung, soft tissue and broad ligament had subtle but distinctive morphologic features. Nested or sheet-like architecture with epithelioid or spindle cells was observed. Immunohistochemical study showed that HMB 45, melan A, smooth muscle actin and cathepsin K were expressed in 80% (20/25), 88% (22/25), 88% (22/25) and 100% (25/25) of PEComa, respectively. Within positive cases, the average proportion of positive tumor cells was 36%, 41%, 35% and 90% respectively for HMB 45, melan A, smooth muscle actin and cathepsin K. TFE3 was negative in all of the 22 renal and hepatic PEComa studied, while it was positive in the 3 cases of extra-hepatorenal PEComa. None of the 25 cases exhibited evidence of TFE3 gene fusion or amplification.
CONCLUSIONSExtra-hepatorenal PEComa have distinctive morphologic features and are associated with TFE3 overexpression. Cathepsin K immunostaining demonstrates high sensitivity and specificity in PEComa, better than other commonly employed immunomarkers. This marker is thus useful in diagnosis of PEComa and distinction with other neoplasms.
Actins ; metabolism ; Adult ; Angiomyolipoma ; metabolism ; pathology ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; genetics ; metabolism ; Cathepsin K ; metabolism ; Female ; Humans ; Immunohistochemistry ; Kidney Neoplasms ; metabolism ; pathology ; Liver Neoplasms ; metabolism ; pathology ; MART-1 Antigen ; metabolism ; Male ; Melanoma-Specific Antigens ; metabolism ; Middle Aged ; Perivascular Epithelioid Cell Neoplasms ; metabolism ; pathology ; Young Adult
8.A prospective multicenter clinical control trial on treatment of refractory nephrotic syndrome with mycophenolate mofetil in children.
Zhu-Wen YI ; Xiao-Chuan WU ; Hong XU ; Li-Jun ZHOU ; Yu-Bin WU ; Shi-Pin FENG ; Jian-Hua ZHOU ; Qing YANG ; Guang-Hua ZHU ; Ai-Min LIU ; Min-Jiang WEI ; Li YU ; Zhi-Feng ZENG
Chinese Journal of Contemporary Pediatrics 2008;10(5):575-578
OBJECTIVETo evaluate the efficacy and safety of mycophenolate mofetil (MMF) plus prednisone on refractory nephrotic syndrome (RNS) in children.
METHODSOne hundred and forty-two children with RNS from ten clinical trial centers were divided into two groups: MMF (n=87) and control (n=55). The MMF group patients were administered with oral MMF (30-40 mg/kg daily) for at least 6 months. Afterwards the patients who responded to MMF received another 6 months MMF treatment at a dosage of 10-20 mg/kg daily. The controls were treated with pulse intravenous infusion of cyclophosphamide (CTX) (10 mg/kg daily) for 2 days every 2 weeks for 3 months. Then CTX was administered at a dosage of 500 mg/m2 once a month 4, 7 and 10 months after treatment. While the patients received MMF or CTX treatment, they were treated with oral prednisone (0.5-1 mg/kg daily) for 2 to 3 months, and then the dosage of prednisone was gradually reduced. Urinary protein, liver and renal functions, and side effects of drugs were examined at regular intervals for one year.
RESULTSOf the 87 patients, 58 achieved complete remission, 16 achieved partial remission, 9 achieved early remission and 4 had no response to treatment. In the control group, 35 achieved complete remission, 9 achieved partial remission, 1 achieved early remission and 10 had no response to treatment. The total remission rate in the MMF group (95.4%) was significantly higher than that in the control group (81.8%) (P<0.01). After treatment 67 patients (65.4%) in the MMF group had negative proteinuria compared with 36 patients (65.4%) in the control group (P>0.05). MMF was found to be more effective in reducing proteinuria, and improving hypoproteinemia, oliguria, hyperlipemia, and edema than CTX. MMF was better tolerated with lower incidences of adverse reactions than CTX.
CONCLUSIONSThe combined therapy of MMF and prednisone is more effective and tolerable than pulse intravenous infusion of CTX for treatment of RNS in children.
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Immunosuppressive Agents ; therapeutic use ; Infant ; Male ; Mycophenolic Acid ; adverse effects ; analogs & derivatives ; therapeutic use ; Nephrotic Syndrome ; drug therapy ; Prednisone ; therapeutic use ; Prospective Studies
9.First-line Xeloda (Capecitabine) treatment for advanced and recurrent colorectal cancer.
Zhong-zhen GUAN ; Dong-geng LIU ; Bao-ming YU ; Wei-qin WU ; De SHI ; Yu ZHAO ; Yu-quan WEI ; Li-qun ZOU ; Xiao-ding WU ; Wen ZHUANG ; Feng-yi FENG ; Pin ZHANG ; Shi-ying YU ; Hui-hua XIONG ; Qiang FU ; Shu ZHENG ; Jian-jin HUANG ; Gang WU ; Chuan-yong YANG ; Sheng-rong SUN ; Qing-lan RUAN
Chinese Journal of Oncology 2004;26(2):119-121
OBJECTIVETo evaluate the efficacy and safety of capecitabine as first-line therapy in patients with advanced and recurrent colorectal cancer.
METHODSFrom December 2000 to November 2001, sixty patients with advanced and recurrent colorectal cancer received first-line capecitabine treatment given at a dose of 1250 mg/m(2) twice daily, on days 1 - 14 every 21 days. At least 2 cycles were administered.
RESULTSThe overall response rate was 23.3% with 14 PR, 24 SD (40.0%) and 15 PD. The median survival time was 14.7 months. The survival rate was 63.9% at 12-months and 33.4% at 24-months. Grade III-IV adverse effects were diarrhea in 4 patients (6.6%), anemia in 2 (3.3%) and hand-foot syndrome (HFS) in 1 (1.7%); Grade I-II adverse effects were hyperpigmentation in 20 (33.3%), HFS in 18 (30.0%) and diarrhea in 10 (16.7%).
CONCLUSIONCapecitabine is an efficacious and better-tolerated alternative treatment for the patients with advanced and recurrent colorectal cancer.
Adult ; Aged ; Antimetabolites, Antineoplastic ; therapeutic use ; Capecitabine ; Colorectal Neoplasms ; drug therapy ; mortality ; Deoxycytidine ; adverse effects ; analogs & derivatives ; therapeutic use ; Female ; Fluorouracil ; analogs & derivatives ; Humans ; Male ; Middle Aged ; Survival Rate
10.Therapeutic effect of Jinlongshe Granule () on quality of life of stage IV gastric cancer patients using EORTC QLQ-C30: A double-blind placebo-controlled clinical trial.
Da-zhi SUN ; Jian-peng JIAO ; Xuan ZHANG ; Jing-yu XU ; Min YE ; Li-juan XIU ; Ying ZHAO ; Ye LU ; Xuan LIU ; Jing ZHAO ; Jun SHI ; Zhi-feng QIN ; Pin-kang WEI
Chinese journal of integrative medicine 2015;21(8):579-586
OBJECTIVETo evaluate the impact of Jinlongshe Granule (, JLSG) on quality of life (QOL) of stage IV gastric cancer patients.
METHODSThis randomized, double-blind and placebo-controlled clinical trial included 50 patients with advanced gastric cancer. They were equally randomized into a JLSG group and a placebo group. Patients in both groups received routine Chinese herbal decoctions according to Chinese medicine (CM) treatment based on syndrome differentiation. Patients in JLSG group received additional JLSG, and those in the placebo group received an additional placebo. In the JLSG group, 19 patients who completed the study were used for analysis. In the placebo group, finally the data of 20 patients who completed the study were used for analysis. The treatment course was at least 3 months, and the follow-up duration was at least 6 months in 5 interviews. Repeated measurements of the subscale items and individual items in European Organization for Research and Treatment of Cancer Core Quality of Life Questionnaire C30 (EORTC QLQ-C30) obtained at the 5 interviews were compared using different patient groups, changes over time and changes within one group over time independently to observe the tendency of changes in the scores.
RESULTSUsing time as the variant, there was signifificant difference in 4 functional scales (physical, role, emotional and social, P<0.05), 3 symptom scales (fatigue, nausea and vomiting and pain,P<0.05) and a global health status/QOL scale (P<0.05) and 6 single symptoms dyspnoea (P>0.05), insomnia (P<0.05), appetite loss (P<0.05), constipation (P<0.05), diarrhea (P>0.05) and financial difficulties (P<0.05). There was also signifificant difference in these items between the two groups when the placebo group and group over time were used as variants (P<0.05 or P<0.01).
CONCLUSIONAdditional use of JLSG on the basis of routine CM treatment could improve the somatic function, role function, emotional function, social function, cognitive function and general QOL of patients with advanced gastric cancer, and relieve the symptoms of fatigue, nausea and vomiting, pain, loss of appetite and constipation.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Double-Blind Method ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Middle Aged ; Placebos ; Quality of Life ; Stomach Neoplasms ; drug therapy ; physiopathology ; Young Adult