1.Congenital analgesia: a case report and literature review.
Hong-Xia SHEN ; Jian-Feng ZHOU ; Jian-Nong CHAI
Chinese Journal of Contemporary Pediatrics 2009;11(3):197-198
Female
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Humans
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Infant
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Mutation
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Pain Insensitivity, Congenital
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complications
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genetics
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pathology
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Receptor, trkA
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genetics
2.Study of in vivo micronucleus formation in lymphocytes from the patients and its relation to malignant degrees of colorectal cancer.
Guo-jian MA ; Jian-nong ZHOU ; Sen-qing CHEN ; Rong LIU ; Kai-xian XUE
Chinese Journal of Medical Genetics 2004;21(4):365-367
OBJECTIVETo investigate the association of the micronucleus (MN) formation in lymphocytes from patients with the malignant degrees of colorectal cancer.
METHODSThe MN test in capillary blood lymphocytes was conducted in 112 patients randomly selected from in-hospital patients before therapy. Experimental data were analyzed by SPSS (v.10.1) software.
RESULTSThe differences in the frequency of MN between 7 pathological types of colorectal cancers and controls were statistically significant (P<0.01). The frequency of MN increased with the decrease of the histological differentiation in colorectal cancer, and the statistically significant differences were seen between low differentiation group and the other differentiation groups in colorectal cancers.
CONCLUSIONThere is a significant correlation between MN formation and the malignant degrees of colorectal cancer, and MN formation will be a useful biomarker for the identification of malignant degrees of colorectal cancer before operation or for the screening of high risk subgroup.
Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; blood ; genetics ; pathology ; Female ; Humans ; Lymphocytes ; metabolism ; pathology ; Male ; Micronucleus Tests ; methods ; Middle Aged
3.Transsacral local wide resection for mid-lower rectal tumors.
Xin ZHOU ; Jun-Qing SHANG ; Jian-Nong ZHOU
Chinese Journal of Gastrointestinal Surgery 2009;12(1):44-47
OBJECTIVETo evaluate the efficacy of transsacral local wide resection for mid-lower rectal tumors.
METHODSClinical data of 133 patients undergone transsacral local wide resection for mid-lower rectal tumors between September 1994 and September 2005 were analyzed retrospectively.
RESULTSNo patient died during operation. Fecal fistula occurred in 6(4.5%) patients. Negative resection margin was proved histologically in all the patients. Postoperative diagnosis was adenoma in 28 patients, hyperplastic polyp in 3 patients, carcinoid in 8 patients, gastrointestinal stromal tumor in 1 patient,adenoma with intra-mucosal carcinogenesis in 29 patients and adenocarcinoma invading into submucosa in 64 patients. Median follow-up was 76 months in 64 patients with T(1) adenocarcinoma, whose 5-year cumulative local recurrence and overall survival were 2.0% and 100% respectively. No local recurrence was observed in other patients.
CONCLUSIONTranssacral local wide resection is simple and safe for mid-lower rectal tumors, which is an appropriate procedure for mid-lower rectal benign tumor and can serve as a sphincter-saving operation for selected T(1) lower rectal carcinoma.
Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; Rectal Neoplasms ; pathology ; surgery ; Retrospective Studies ; Sacrococcygeal Region ; surgery ; Young Adult
4.Genetic characteristics of hantaviruses carried by Microtus maximowixzii in Yakeshi of Inner Mongolia, China
Mei-Li CONG ; Wen-Ping GUO ; Jian-Bo WANG ; Wen WANG ; Run-Hong ZHOU ; Ming-Hui LI ; Ju-Nong ZHANG ; Yong-Zhen ZHANG
Chinese Journal of Epidemiology 2012;33(8):832-835
Objective To analyze the viral genetic characteristics of hantaviruses carried by Microtus maximowixzii in Yakeshi of Inner Mongolia Autonomous Region and its relationship with Hantaan virus (HTNV) and Seoul virus (SEOV) viruses as well as to identify the natural host of Khabarovsk virus (KHAV).Methods HV specific RNAs were detected by RT-PCR.Complete S and M segment were amplified from the RNA-positive samples.Phylogenetic analysis were performed to estimate the genetic characterization and the relationship with other hantaviruses.Results Fifty two Microtus maximowixzii voles were captured in Yakeshi areas.Of those voles,hanta-viral RNA was tested positive in 5 samples (9.62%).Complete S and M segments sequences were obtained from 5 and 2 lung samples,respectively.The complete S segment was consisted of 1848 to 1861 bp,and the M segment consisted of 3662 bp.These viruses were closely related to each other with 92.5%-96.4% for the S segment sequences and 88.9%-95.4% for the M segment sequences.They shared a higher identity with KHAV found previously in Yakeshi and KHAV of Russia.However,they were obviously different from the other hantavirus species.The 5 strains had the consistent secondary structure of nucleocapsid protein (NP) and glycoprotein (GP).When further comparing their secondary structures with those of HTNV and SEOV,our results indicated that there were no obvious differences in NP between KHAV and both HNTV,SEOV but with obvious difference in GP.Based on the S and M segment sequences,phylogenetic analyses revealed that these 5 strains clustered together with KHAV and formed a distinct lineage.Furthermore,all known KHAV strains could be divided into two small branches with a nucleotide divergence more than 5.3%.Conclusion Our research data revealed that KHAV was highly endemic among Microtus maximowixzii in Yakeshi area which supported the notion that Microtus maximowixzii had been the natural host of KHAV in the area.
5.A novel APC gene germline mutation in a familial adenomatous polyposis pedigree.
Jian-nong ZHOU ; Sen-qing CHEN ; Xiao-mei ZHANG ; Xin ZHOU ; Ming ZHU ; Bo FENG ; Jin-tian LI ; Guo-jian MA ; Yuan-ying ZHANG
Chinese Journal of Medical Genetics 2006;23(4):388-391
OBJECTIVETo detect the adenomatous polyposis coli (APC) gene germline mutation in the proband and her family members with familial adenomatous polyposis (FAP).
METHODSThe diagnosis of a patient with FAP was validated by colonoscopy, pathology and the family history. The systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were carried out to detect APC gene germline mutations.
RESULTSA novel mutation c.1999 C >T (Q667X) of APC, which leads to premature termination of the protein, was identified in this family. This mutation manifested an aggressive form of FAP with early onset of colorectal adenocarcinoma and colonic adenoma.
CONCLUSIONThe mutation of APC Q667X is the cause of clinical phenotype of this family with FAP, and the prophylactic colectomy for the affected family members should be considered.
Adenomatous Polyposis Coli ; genetics ; Adenomatous Polyposis Coli Protein ; genetics ; Adolescent ; Adult ; Base Sequence ; Child ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; Female ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Polymerase Chain Reaction
6.Association of IVS10+12G>A polymorphism in hMSH2 gene with colorectal cancer in Chinese.
Jian-nong ZHOU ; De-qiang WANG ; Lei SONG ; Su-ping LI ; Jian-hua DING ; Guo-jian MA ; Sen-qing CHEN ; Xiao-mei ZHANG
Chinese Journal of Medical Genetics 2010;27(5):579-583
OBJECTIVETo investigate the association of the single-nucleotide polymorphism (SNP) IVS10+12 G>A in hMSH2 gene with colorectal cancer in a Chinese population of Jiangsu province.
METHODSA case-control study to investigate whether this SNP affects the risk of developing colorectal cancer was conducted. Subjects included 108 colorectal cancer patients and 180 healthy individuals. Peripheral white blood cell DNA was obtained from all subjects. The hMSH2 gene IVS10+12 G>A was genotyped using a PCR-based DHPLC, the existence of IVS10+12 G>A was verified by DNA sequencing.
RESULTSThe allele frequency of the IVS10+12 G>A in the hMSH2 gene in the healthy individuals was 51.7%. There was significant difference in the frequency of the IVS10+12 G>A between patients and healthy controls (P<0.05), and between familial patients and healthy controls (P<0.05). There was also significant difference of the frequency of the IVS10+12 G>A between patients younger than 50 years, and patients with high consumption of fried food and pickled vegetable and healthy controls respectively (P<0.05).
CONCLUSIONThis SNP may be associated with colorectal cancers in Chinese. Further investigation with larger sample size is needed.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; China ; Colorectal Neoplasms ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; MutS Homolog 2 Protein ; genetics ; Pedigree ; Point Mutation ; Polymorphism, Single Nucleotide ; Young Adult
7.Genetic polymorphisms of alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 associated with the susceptibility on esophageal cancer
Jian-Hua DING ; Su-Ping LI ; Hai-Xia CAO ; Jian-Zhong WU ; Chang-Ming GAO ; Ping SU ; Yan-Ting LIU ; Jian-Nong ZHOU ; Jun CHANG ; Gen-Hong YAO
Chinese Journal of Epidemiology 2009;30(5):455-458
Objective To evaluate the impact of alcohol dehydrogenase-2 (ADH2) and aldehyde dehydrogenase-2 (ALDH2) polymorphisms on the susceptibility of esophageal cancer. Methods A case-control study including 221 cases of esophageal cancer and 191 controls was carried out in Taixing city of Jiangsu province. ADH2 and ALDH2 genotypes were tested by PCR and denaturing high -- performance liquid chromatography (DHPLC). Results (1) Compared with ALDH2 G/G carriers, ALDH2 A/A (OR=5.69, 95%CI: 2.51-12.18) and ALDH2 G/A (OR=1.70, 95%CI: 1.08-2.68) carriers showed a significantly elevated risk of developing esophageal cancer, especially among alcohol drinkers with ALDH2 A/A (OR=8.63,95% CI: 2.07-35.95). (2) Statistical relation was not found between ADH2 genotypes and the risk of esophageal cancer, with regard to the status of alcohol consumption. (3) Whether subjects with whatever ADH2 genotype, ALDH2 G/A or A/A carriers was found to have significantly increased the risk of developing esophageal cancer, with ALDH2 A/A carriers appeared having higher esophageal cancer risk than those ALDH2 G/A carriers. (4)Compared those non-drinkers with both ALDH2 G/G and ADH2 A/A , drinkers with ALDH2 G/A or A/A and ADH2 C,/A or G/G genotypes showed a significantly elevated risk of developing esophageal cancer (OR=8.36, 95% CI: 2.98-23.46). Conclusion These results revealed that it was not ADH2 but ALDH2 polymorphisms and drinking alcohol had a significant interaction with the development of esophageal cancer, suggesting that in order to help lowering the risk of esophageal cancer, individuals who are carrying ALDH2 A/A or G/A genotypes should be encouraged to reduce their consumption of alcohols.
8.Mismatch repair gene hMLH1 A655G/A polymorphism and colorectal cancer.
Lei SONG ; Xiao-mei ZHANG ; De-qiang WANG ; Jin-tian LI ; Guo-jian MA ; Sen-qing CHEN ; Jian-nong ZHOU
Chinese Journal of Gastrointestinal Surgery 2010;13(3):216-218
OBJECTIVETo investigate the etiological role of hMLH1 gene A655 polymorphism in colorectal cancer.
METHODSA case-control study was carried out, including 115 colorectal cancer patients and 135 healthy people as control. Genomic DNA was extracted from peripheral white blood cell from all the subjects. Polymorphism was detected by PCR-based DHPLC analysis and verified by DNA sequencing.
RESULTSThe hMLH1 gene A655G polymorphism was detected in 3.0% of healthy people and 11.3% of colorectal cancer patients (P<0.01), and the difference was significant (P<0.01). The hMLH1 gene A655G polymorphism was detected in 8.2% of tubular adenocarcinoma or tubular-papillary adenocarcinoma and 27.8% of mucinous adenocarcinoma, which was also significant (P<0.05).Meanwhile, hMLH1 gene A655G polymorphism was not associated with age, gender and lymphatic metastasis (all P>0.05).
CONCLUSIONSThe hMLH1 gene A655G polymorphism may play a role in the pathogenesis of colorectal cancer. Determination of the polymorphism may be a potential marker to predict the prognosis of colorectal cancer patients.
Adaptor Proteins, Signal Transducing ; genetics ; Case-Control Studies ; Colorectal Neoplasms ; etiology ; genetics ; DNA Mismatch Repair ; Female ; Humans ; Male ; Middle Aged ; MutL Protein Homolog 1 ; Mutation ; Nuclear Proteins ; genetics ; Polymorphism, Single Nucleotide ; Prognosis ; Sequence Analysis, DNA
9.Aortic valve replacement: the experiences of 1026 cases.
Bao-ren ZHANG ; Zhi-yun XU ; Liang-jian ZOU ; Er-song WANG ; Jian-zhou XING ; Wei-yong YU ; Zhi-nong WANG
Chinese Journal of Surgery 2008;46(4):259-262
OBJECTIVETo study the changes in pathogenic causes and the prognosis of aortic valve replacement (AVR).
METHODSThe clinical data of 1026 patients undergoing AVR from December 1980 to December 2006 were analyzed retrospectively. The mortality, morbidity, changes in pathogenic causes and risk factors were analyzed.
RESULTSThe postoperative mortality and complication morbidity were 4.3% and 10.6% respectively within 30 days followed operation. Main causes of operative death were heart failure, multi organ failure and endocarditis. The major risk factors for operative death were left ventricle ejection fraction less than 0.4, endocarditis, valve regurgitation and emergency operation before AVR. Late mortality was 0.54% patient-year (3.4%), most of whom died of heart failure, endocarditis and arrhythmias. Patients underwent reoperation 0.22% patient-year (1.4%), with the causes of endocarditis and perivalvular fistula.
CONCLUSIONSMorbidity of rheumatic damage in aortic valve has decreased, while valve degeneration has increased gradually in the recent years. Avoiding prosthesis-patient mismatch, good postoperatively guide and prevention of endocarditis can improve the prognosis of AVR.
Adolescent ; Adult ; Aged ; Aortic Valve ; surgery ; Female ; Follow-Up Studies ; Heart Valve Diseases ; surgery ; Heart Valve Prosthesis Implantation ; methods ; mortality ; statistics & numerical data ; Humans ; Male ; Middle Aged ; Postoperative Complications ; epidemiology ; mortality ; Prognosis ; Retrospective Studies ; Risk Factors ; Treatment Outcome
10.Study on the risk factors of schistosomiasis transmission and control strategy in the Three Gorges Reservoir Areas.
Xing-Jian XU ; Feng-hua WEI ; Shun-xiang CAI ; Jian-bing LIU ; Yi FU ; Jiang ZHENG ; Ru-bo WANG ; Xiao-nong ZHOU ; Geng-yun LIU ; Kai-yu WANG ; Bing SUN
Chinese Journal of Epidemiology 2004;25(7):559-563
OBJECTIVETo understand the risk factors of schistosomiasis transmission in the Three Gorges Reservoir Area (TGRA) and to provide evidence for the development of control strategy.
METHODSApproaches including epidemiology, immunology and field survey were applied to investigate the potential risk factors which would involve the importation of infectious resources live mobile and migrant population, and livestock in the reservoir area. Meanwhile, observation on survival and reproductive status of snail under simulation habitats was also carried out, using ecological methods on snails. Strategy in preventing the spread of snail as infectious resources was also provided.
RESULTS175 mobile people from schistosomaisis endemic area of were tested and one person showed immunology tests positive with indirect hemagglutination test (IHA) and circumoral precipitin test (COPT), with a positive rate of 0.57%. Through the two-year period under observation, data showed that the snails with ribbon/smooth shells could survive and reproduce under habitats of simulation.
CONCLUSIONSOnce the infectious resource of schistosomiasis was introduced into the TGRA, the area became a new schistosomiasis epidemic area in TGRA which called for countermeasures to be taken.
Animals ; China ; epidemiology ; Disease Reservoirs ; Humans ; Risk Factors ; Schistosomiasis japonica ; epidemiology ; prevention & control ; transmission ; Snails ; parasitology