OBJECTIVE: To review the major progress in primary angle closure glaucoma (PACG). METHODS: Contents of this article were selected from the original papers or reviews related to primary angle closure glaucoma published...OBJECTIVE: To review the major progress in primary angle closure glaucoma (PACG). METHODS: Contents of this article were selected from the original papers or reviews related to primary angle closure glaucoma published in Chinese and foreign journals. A total of 76 articles were selected from several hundred original articles or reviews. The content of selected articles is in accordance with our purpose and the authors are authorized scientists in the study of glaucoma. RESULTS: Primary angle closure glaucoma is the most common type of glaucoma in the Sino-Mongoloid population. PACG in Chinese can be classified into three types depending on the mechanism of angle closure: 1. Multimechanism: 54.8% of Chinese PACG is caused by co-existing factors. The pattern of angle closure appears to mainly be creeping closure. After iridectomy, almost 40% of the cases still manifest a positive response to the darkroom provocative test and progressive synechial closure or recurrent angle closure may occur. Several mechanisms are involved in this form of PACG such as pupillary blocking component, iris crowding component and anterior positioned ciliary body. These factors can coexist in the follow patterns: pupillary blocking and iris crowding coexist; pupillary blocking and anterior positioned ciliary body coexist or three of them co-exist. 2. Pupillary block: (38.1% of Chinese PACG) is caused by iris bombe due to pupillary block with acute or subacute attack. It responds well to iridectomy or laser iridotomy. 3. Non-pupillary blocking: (7.8% of Chinese PACG). They usually have a deeper anterior chamber, and tend to be younger (below 40 years of age). Angle closure in this form of PACG is caused by: iris crowding mechanism or/and anteriorly positioned ciliary body against iris root to angle. It is critical to distinguish multi-mechanism PACG from other types. The initial treatment for this type of PACG is also iridectomy, but after the pupillary block component is eliminated by iridectomy, the residual non-pupillary blocking compo展开更多
AIM: To compare the racial differences of anatomical distribution of colorectal cancer (CRC) and determine the association of age, gender and time with anatomical distribution between patients from America (white) and...AIM: To compare the racial differences of anatomical distribution of colorectal cancer (CRC) and determine the association of age, gender and time with anatomical distribution between patients from America (white) and China (oriental).METHODS: Data was collected from 690 consecutive patients in Cleveland Clinic Florida, U.S.A. and 870consecutive patients in Nan Fang Hospital affiliated to the First Military Medical University, China over the past 11years from 1990 to 2000. All patients had colorectal adenocarcinoma diagnosed by histology and underwent surgery.RESULTS: The anatomical subsite distribution of tumor,age and gender were significantly different between white and oriental patients. Lesions in the proximal colon (P＜0.001) were found in 36.3 % of white vs 26.0 % of oriental patients and cancers located in the distal colon and rectum in 63.7 % of white and 74 % of oriental patients (P＜0.001). There was a trend towards the redistribution from distal colon and rectum to proximal colon in white males over time, especially in older patients (＞80 years).No significant change of anatomical distribution occurred in white women and Oriental patients. The mean age at diagnosis was 69.0 years in white patients and 48.3 years in Oriental patients (P＜0.001).CONCLUSION: This is the first study comparing the anatomical distribution of colorectal cancers in whites and Chinese patients. White Americans have a higher risk of proximal CRC and this risk increased with time. The proportion of white males with CRC also increased with time.Chinese patients were more likely to have distal CRC and developed the disease at a significantly earlier age than white patients. These findings have enhanced our understanding of the disease process of colorectal cancer in these two races.展开更多
Aim： To evaluate the best individualized prostate biopsy strategies for Chinese patients with suspected prostate cancer. Methods： The present study included 221 Chinese patients who underwent transrectal ultrasound ...Aim： To evaluate the best individualized prostate biopsy strategies for Chinese patients with suspected prostate cancer. Methods： The present study included 221 Chinese patients who underwent transrectal ultrasound guided prostate biopsies for the first time. All patients underwent the same 10-core biopsy protocol. In addition to the Hodge sextant technique, four more biopsies were obtained from the base and middle regions of bilateral peripheral zones. The differences between 10-core and sextant strategies in cancer detection among patients with different prostate specific anitgen （PSA） levels were evaluated. The relationship between PSA level, number of positive biopsy cores and organ-confined cancer rate in prostate cancer patients was also analyzed. Results： The overall prostate cancer detection rate was 40.7% in the 221 patients. The 10-core strategy increased cancer detection by 6.67% （6/90） in our patients （P 〈 0.05）. The increased cancer detection rates decreased significantly when the patient PSA level increased from 0-20 ng/mL to 20.1-50 ng/mL and 〉 50 ng/mL （P 〈 0.01）. The number of positive biopsy cores in prostate cancer patients increased significantly with increasing patient PSA level （P 〈 0.01）. The rate of organ-confined prostate cancer decreased significantly with increasing patient PSA level （P 〈 0.01）. Conclusion： The extended 10- core strategy is recommended for Chinese patients with PSA 〈 20 ng/mL and the sextant strategy is recommended for those with PSA〉 50 ng/mL. For patients with PSA ranging from 20.1 ng/mL to 50 ng/mL, the 10-core strategy should be applied in patients with life expectancy 〉 10 years and the sextant strategy should be applied in those with life expectancy 〈 10 years. （Asian J Androl 2008 Mar; 10： 325-331）展开更多
AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic...AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized questionnaire.PCR-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Polymorphism of CYP2E1 gene may have some effect in 展开更多
AIM：To study the nuclear microsatellite instability (nMSI) at BAT26 and mitochondral microsalellite instability (mtMSI) in the occurrence and development of hepatocellular carcinoma and the relationship between nMSI ...AIM：To study the nuclear microsatellite instability (nMSI) at BAT26 and mitochondral microsalellite instability (mtMSI) in the occurrence and development of hepatocellular carcinoma and the relationship between nMSI and mtMSI.METHODS: nMSI was observed with PCR and mtMSI with PCR-SSCP in 52 cases of hepatocellular carcinoma.RESULTS:mtMSI was detected in 11 out of the 52 cases of hepatocellular carcinoma (21.2%). Among the 11 cases of hepatocellular carcinoma with mtMSI, 7 occured in one locus and 4 in 2 loci. The frequency of mtMSI in the 52 cases of hepatocellular carcinoma showed no correlation to sex, age,infection of hepatitis B, liver cirrhosis as well as positive AFP of the patients (P>0.05). In addition, nMSI was detected in 3 out of 52 cases of hepatocellular carcinoma (5.8%) and there was no correlation of the incidence of mtMSI to that of nMSI (P>0.05).CONCLUSION:mtMSI may be involved in the coccurrence and development of hepatocellular carcinoma and it is independent of nMSI.展开更多
AIM:This study aimed to determine whether metabolic syndrome is directly or indirectly,through fatty liver,associated with elevated gamma-glutamyl transpeptidase (GGT) levels in Japanese women. METHODS:From 4 366 wome...AIM:This study aimed to determine whether metabolic syndrome is directly or indirectly,through fatty liver,associated with elevated gamma-glutamyl transpeptidase (GGT) levels in Japanese women. METHODS:From 4 366 women who received their annual health check-up,4 211 women were selected for analysis. All 4 211 women were negative for both hepatitis B surface antigen and antibody to hepatitis C virus.Clinical and biochemical variables were examined by using univariate and multivariate analysis. RESULTS:A raised GGT level (>68 IU/L) was seen in 258 (6.1%) of the 4 211 women.In univariate analysis,all variables examined (age,body mass index,blood pressure, hemoglobin concentration,fasting blood glucose, glycosylated hemoglobin Alc,cholesterol,triglyceride,and uric acid) were associated with the elevated GGT level, whereas in multivariate analysis,four variables (age≧50 yr, hemoglobin≧14 g/dL,triglyceride≧150 mg/dL,and presence of diabetes) were significantly and independently associated with raised GGT level.Clinical variables predicting the presence of ultrasonographic evidence of fatty liver were also examined by multivariate analysis;four variables were associated with the presence of fatty liver:BMI≧25 kg/m^2, hemoglobin≧14 g/dL,triglyceride≧150 mg/dL,and uric acid ≧ 7 mg/dL.There was no significant association between the raised GGT level and the presence of fatty liver. Hypertriglyceridemia was significantly and independently associated with both the raised GGT level and the presence of fatty liver. CONCLUSION:Metabolic syndrome seemed to be directly, not indirectly through fatty liver,associated with the raised GGT level in Japanese women.展开更多
AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed usi...AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4 typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER+ phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1), which had not been reported previously, were identified. The same mutations were also found in other affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismatch repair genes. High-level microsatellite instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of mismatch repair gene might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.展开更多
In a panmictic population of constant size N, random pairs of individuals will have a most recent shared ancestor who lived slightly more than 0.5 log<sub>2</sub>N generations previously, on average. The p...In a panmictic population of constant size N, random pairs of individuals will have a most recent shared ancestor who lived slightly more than 0.5 log<sub>2</sub>N generations previously, on average. The probability that a random pair of individuals will share at least one ancestor who lived 0.5 log<sub>2</sub>N generations ago, or more recently, is about 50%. Those individuals, if they do share an ancestor from that generation, would be cousins of degree (0.5 log<sub>2</sub>N) - 1. Shared ancestry from progressively earlier generations increases rapidly until there is universal pairwise shared ancestry. At that point, every individual has one or more ancestors in common with every other individual in the population, although different pairs may share different ancestors. Those ancestors lived approximately 0.7 log<sub>2</sub>N generations in the past, or more recently. Qualitatively, the ancestries of random pairs have about 50% similarity for ancestors who lived about 0.9 log<sub>2</sub>N generations before the present. That is, about half of the ancestors from that generation belonging to one member of the pair are present also in the genealogy of the other member. Qualitative pairwise similarity increases to more than 99% for ancestors who lived about 1.4 log<sub>2</sub>N generations in the past. Similar results apply to a metric of quantitative pairwise genealogical overlap.展开更多
Cultivated rice (Oryza sativa L.) is structured into five genetic groups, indica, aus, tropical japonica, temperate japonica and aromatic. Genetic characterization of rice germplasm collections will enhance their util...Cultivated rice (Oryza sativa L.) is structured into five genetic groups, indica, aus, tropical japonica, temperate japonica and aromatic. Genetic characterization of rice germplasm collections will enhance their utilization by the global research community for improvement of rice. The USDA world collection of rice germ-plasm that was initiated in 1904 has resulted in over 18,000 accessions from 116 countries, but their ancestry information is not available. A core subset, including 1,763 accessions repre-senting the collection, was genotyped using 72 genome-wide SSR markers, and analyzed for genetic structure, genetic relationship, global distribution and genetic diversity. Ancestry analysis proportioned this collection to 35% indica, 27% temperate japonica, 24% tropical japonica, 10% aus and 4% aromatic. Graphing model-based ancestry coefficients demon-strated that tropical japonica showed up mainly in the American continents and part of the South Pacific and Oceania, and temperate japonica in Europe and the North Pacific far from the equator, which matched the responses to tem-perature. Indica is adapted to the warm areas of Southern Asia, South China, Southeast Asia, South Pacific and Central Africa and around the equator while aus and aromatic are special types of rice that concentrates in Bangladesh and India. Indica and aus were highly diversified while temperate and tropical japonicas had low diversity, indicated by average alleles and pri-vate alleles per locus. Aromatic has the most polymorphic information content. Indica and aromatic were genetically closer to tropical ja-ponica than temperate japonica. This study of global rice has found significant population stratification generally corresponding to major geographic regions of the world.展开更多
Background: HPV infection represents an important etiologic factor for Oropharyngeal Squamous Cell Carcinoma (OPSCC). The different ethnic backgrounds could be related to different susceptibility to Human Papillomavir...Background: HPV infection represents an important etiologic factor for Oropharyngeal Squamous Cell Carcinoma (OPSCC). The different ethnic backgrounds could be related to different susceptibility to Human Papillomavirus (HPV). The aim of our study was to assess the whole of genetic ancestry in HPV status in OPSCC patients. Methods: We conducted a cross-sectional study on patients with OPSCC admitted to the Barretos Cancer Hospital, Brazil from 2014 to 2019. Of these, DNA extraction was performed on 40 patients and genetic ancestry was assessed using a specific panel of 46 informative ancestry markers. Results: We observed a predominance of European ancestry (63%), followed by African (18%), Amerindian (9%) and Asian (8%) both in the OPSCC HPV-positive and HPV-negative group. We did not find any statistically significant differences between the HPV-positive and HPV-negative OPSCC groups in relation to European (p = 0.499), African (p = 0.448), Asian (p = 0.275) or Amerindian (p = 0.836) ancestry. Conclusions: We found a predominance of European ancestry, both in the HPV-positive and HPV-negative groups. In our study, we did not find statistically significant differences between HPV-positive or HPV-negative groups in relation to ancestry.展开更多
The worldwide chicken gene pool encompasses a remarkable,but shrinking,number of divergently selected breeds of diverse origin.This study was a large-scale genome-wide analysis of the landscape of the complex molecula...The worldwide chicken gene pool encompasses a remarkable,but shrinking,number of divergently selected breeds of diverse origin.This study was a large-scale genome-wide analysis of the landscape of the complex molecular architecture,genetic variability,and detailed structure among 49 populations.These populations represent a significant sample of the world's chicken breeds from Europe(Russia,Czech Republic,France,Spain,UK,etc.),Asia(China),North America(USA),and Oceania(Australia).Based on the results of breed genotyping using the Illumina 60K single nucleotide polymorphism(SNP)chip,a bioinformatic analysis was carried out.This included the calculation of heterozygosity/homozygosity statistics,inbreeding coefficients,and effective population size.It also included assessment of linkage disequilibrium and construction of phylogenetic trees.Using multidimensional scaling,principal component analysis,and ADMIXTURE-assisted global ancestry analysis,we explored the genetic structure of populations and subpopulations in each breed.An overall 49-population phylogeny analysis was also performed,and a refined evolutionary model of chicken breed formation was proposed,which included egg,meat,dual-purpose types,and ambiguous breeds.Such a large-scale survey of genetic resources in poultry farming using modern genomic methods is of great interest both from the viewpoint of a general understanding of the genetics of the domestic chicken and for the further development of genomic technologies and approaches in poultry breeding.In general,whole genome SNP genotyping of promising chicken breeds from the worldwide gene pool will promote the further development of modern genomic science as applied to poultry.展开更多
Background Early clinical trials with the Endeavor zotarolimus eluting stent （ZES） in western populations demonstrated low rates of target lesion revascularization with a favorable safety profile including low late ...Background Early clinical trials with the Endeavor zotarolimus eluting stent （ZES） in western populations demonstrated low rates of target lesion revascularization with a favorable safety profile including low late stent thrombosis with up to 5 years of follow-up. The aim of this clinical registry study was to evaluate real world clinical performance of the ZES coronary system in Chinese patients. Methods The China Endeavor Registry is a prospective, multicenter registry assessing the safety of the ZES system in a real world patient population. It was conducted at 46 centers in China in routine treatment of patients with coronary artery stenosis, including patients with clinical characteristics or lesion types that are often excluded from randomized controlled trials. The registry included 2210 adult patients who underwent single-vessel or multi-vessel percutaneous coronary intervention. The primary end point was the rate of major adverse cardiac events （MACE） at 12 months. Results The 12-month rate of MACE for all patients in the registry was 3.03%. Cardiac death or myocardial infarction rate was 1.28% and target lesion revascularization rate was 1.66%, non-target lesion target vessel revascularization （TVR） was 0.52%, TVR was 2.18%, and target vessel failure was 3.22%. There was only one case of emergent cardiac bypass surgery. The 12-month overall incidence of all Academic Research Consortium （ARC）-defined stent thrombosis was 0.43%. Conclusion Mid-term results from the real-world China Endeavor Registry suggest that Endeavor ZES was safe and effective in Chinese patients.展开更多
At some future time, each person alive today will be either an ancestor of everyone or an ancestor of no one. If the global population were unstructured by geography, race, religion and other factors, the time to futu...At some future time, each person alive today will be either an ancestor of everyone or an ancestor of no one. If the global population were unstructured by geography, race, religion and other factors, the time to future common ancestry for present-day humans would be between 33 and 66 generations, or about 1000 - 2000 years. In a structured population, migration and intermarriage are the necessary conditions for global common ancestry. Simulation of random and hierarchical migration models, shows that time to future global ancestry is generally less than triple, and often less than twice, that required for an unstructured population. The models suggest that someone alive today will become a common ancestor of the entire world population by about 5000 CE, or sooner;and that all current humans who are destined to become global common ancestors will be so by about 8000 CE, or sooner. At which time, everybody then alive will have the exact same genealogical ancestors from the present day.展开更多
Simulation was used to investigate the effects of population structure and migration on metrics of pairwise shared ancestry. Random and hierarchical structures, or migration geometries, were examined. Compared to panm...Simulation was used to investigate the effects of population structure and migration on metrics of pairwise shared ancestry. Random and hierarchical structures, or migration geometries, were examined. Compared to panmictic populations, progress to all qualitative metrics of pairwise ancestry is delayed in structured populations. However, unless migration is very low, the time required is generally less than triple and often less than twice that required in a panmictic population of the same total size. Population structure also increases, to a similar degree, the time required for a population-wide most recent common ancestor (MRCA). As a result, the relationships between various qualitative metrics of pairwise shared ancestry and MRCA time are relatively unaffected by population structure. For example, the mean time to most recent shared ancestor (MRSA) with global sampling of pairs is 40% - 50% of the MRCA time for almost all simulated structures and migration levels. Quantitative pairwise genealogical overlap is strongly affected by population structure. With global sampling, pairwise quantitative overlap never approaches 1.0, as it does in panmictic populations;and instead eventually becomes stationary at much lower values. Possible implications of the present results for human pairwise shared ancestry are discussed. For globally sampled pairs, the longest time to most recent shared ancestor (MRSA) for humans is suggested to be approximately 2100 years before the present. If generation time is 30 years, then all humans are 69th, or closer, cousins. For people with recent European ancestry, the MRSA time may be only half as long, about 1000 years.展开更多
文摘OBJECTIVE: To review the major progress in primary angle closure glaucoma (PACG). METHODS: Contents of this article were selected from the original papers or reviews related to primary angle closure glaucoma published in Chinese and foreign journals. A total of 76 articles were selected from several hundred original articles or reviews. The content of selected articles is in accordance with our purpose and the authors are authorized scientists in the study of glaucoma. RESULTS: Primary angle closure glaucoma is the most common type of glaucoma in the Sino-Mongoloid population. PACG in Chinese can be classified into three types depending on the mechanism of angle closure: 1. Multimechanism: 54.8% of Chinese PACG is caused by co-existing factors. The pattern of angle closure appears to mainly be creeping closure. After iridectomy, almost 40% of the cases still manifest a positive response to the darkroom provocative test and progressive synechial closure or recurrent angle closure may occur. Several mechanisms are involved in this form of PACG such as pupillary blocking component, iris crowding component and anterior positioned ciliary body. These factors can coexist in the follow patterns: pupillary blocking and iris crowding coexist; pupillary blocking and anterior positioned ciliary body coexist or three of them co-exist. 2. Pupillary block: (38.1% of Chinese PACG) is caused by iris bombe due to pupillary block with acute or subacute attack. It responds well to iridectomy or laser iridotomy. 3. Non-pupillary blocking: (7.8% of Chinese PACG). They usually have a deeper anterior chamber, and tend to be younger (below 40 years of age). Angle closure in this form of PACG is caused by: iris crowding mechanism or/and anteriorly positioned ciliary body against iris root to angle. It is critical to distinguish multi-mechanism PACG from other types. The initial treatment for this type of PACG is also iridectomy, but after the pupillary block component is eliminated by iridectomy, the residual non-pupillary blocking compo
文摘AIM: To compare the racial differences of anatomical distribution of colorectal cancer (CRC) and determine the association of age, gender and time with anatomical distribution between patients from America (white) and China (oriental).METHODS: Data was collected from 690 consecutive patients in Cleveland Clinic Florida, U.S.A. and 870consecutive patients in Nan Fang Hospital affiliated to the First Military Medical University, China over the past 11years from 1990 to 2000. All patients had colorectal adenocarcinoma diagnosed by histology and underwent surgery.RESULTS: The anatomical subsite distribution of tumor,age and gender were significantly different between white and oriental patients. Lesions in the proximal colon (P＜0.001) were found in 36.3 % of white vs 26.0 % of oriental patients and cancers located in the distal colon and rectum in 63.7 % of white and 74 % of oriental patients (P＜0.001). There was a trend towards the redistribution from distal colon and rectum to proximal colon in white males over time, especially in older patients (＞80 years).No significant change of anatomical distribution occurred in white women and Oriental patients. The mean age at diagnosis was 69.0 years in white patients and 48.3 years in Oriental patients (P＜0.001).CONCLUSION: This is the first study comparing the anatomical distribution of colorectal cancers in whites and Chinese patients. White Americans have a higher risk of proximal CRC and this risk increased with time. The proportion of white males with CRC also increased with time.Chinese patients were more likely to have distal CRC and developed the disease at a significantly earlier age than white patients. These findings have enhanced our understanding of the disease process of colorectal cancer in these two races.
文摘Aim： To evaluate the best individualized prostate biopsy strategies for Chinese patients with suspected prostate cancer. Methods： The present study included 221 Chinese patients who underwent transrectal ultrasound guided prostate biopsies for the first time. All patients underwent the same 10-core biopsy protocol. In addition to the Hodge sextant technique, four more biopsies were obtained from the base and middle regions of bilateral peripheral zones. The differences between 10-core and sextant strategies in cancer detection among patients with different prostate specific anitgen （PSA） levels were evaluated. The relationship between PSA level, number of positive biopsy cores and organ-confined cancer rate in prostate cancer patients was also analyzed. Results： The overall prostate cancer detection rate was 40.7% in the 221 patients. The 10-core strategy increased cancer detection by 6.67% （6/90） in our patients （P 〈 0.05）. The increased cancer detection rates decreased significantly when the patient PSA level increased from 0-20 ng/mL to 20.1-50 ng/mL and 〉 50 ng/mL （P 〈 0.01）. The number of positive biopsy cores in prostate cancer patients increased significantly with increasing patient PSA level （P 〈 0.01）. The rate of organ-confined prostate cancer decreased significantly with increasing patient PSA level （P 〈 0.01）. Conclusion： The extended 10- core strategy is recommended for Chinese patients with PSA 〈 20 ng/mL and the sextant strategy is recommended for those with PSA〉 50 ng/mL. For patients with PSA ranging from 20.1 ng/mL to 50 ng/mL, the 10-core strategy should be applied in patients with life expectancy 〉 10 years and the sextant strategy should be applied in those with life expectancy 〈 10 years. （Asian J Androl 2008 Mar; 10： 325-331）
基金Supported by Natural Science Foundation of Fujian Province,China,No.C001009
文摘AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized questionnaire.PCR-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Polymorphism of CYP2E1 gene may have some effect in
基金Supported by the National-Natural Science Foundation of China,No.30070043
文摘AIM：To study the nuclear microsatellite instability (nMSI) at BAT26 and mitochondral microsalellite instability (mtMSI) in the occurrence and development of hepatocellular carcinoma and the relationship between nMSI and mtMSI.METHODS: nMSI was observed with PCR and mtMSI with PCR-SSCP in 52 cases of hepatocellular carcinoma.RESULTS:mtMSI was detected in 11 out of the 52 cases of hepatocellular carcinoma (21.2%). Among the 11 cases of hepatocellular carcinoma with mtMSI, 7 occured in one locus and 4 in 2 loci. The frequency of mtMSI in the 52 cases of hepatocellular carcinoma showed no correlation to sex, age,infection of hepatitis B, liver cirrhosis as well as positive AFP of the patients (P>0.05). In addition, nMSI was detected in 3 out of 52 cases of hepatocellular carcinoma (5.8%) and there was no correlation of the incidence of mtMSI to that of nMSI (P>0.05).CONCLUSION:mtMSI may be involved in the coccurrence and development of hepatocellular carcinoma and it is independent of nMSI.
文摘AIM:This study aimed to determine whether metabolic syndrome is directly or indirectly,through fatty liver,associated with elevated gamma-glutamyl transpeptidase (GGT) levels in Japanese women. METHODS:From 4 366 women who received their annual health check-up,4 211 women were selected for analysis. All 4 211 women were negative for both hepatitis B surface antigen and antibody to hepatitis C virus.Clinical and biochemical variables were examined by using univariate and multivariate analysis. RESULTS:A raised GGT level (>68 IU/L) was seen in 258 (6.1%) of the 4 211 women.In univariate analysis,all variables examined (age,body mass index,blood pressure, hemoglobin concentration,fasting blood glucose, glycosylated hemoglobin Alc,cholesterol,triglyceride,and uric acid) were associated with the elevated GGT level, whereas in multivariate analysis,four variables (age≧50 yr, hemoglobin≧14 g/dL,triglyceride≧150 mg/dL,and presence of diabetes) were significantly and independently associated with raised GGT level.Clinical variables predicting the presence of ultrasonographic evidence of fatty liver were also examined by multivariate analysis;four variables were associated with the presence of fatty liver:BMI≧25 kg/m^2, hemoglobin≧14 g/dL,triglyceride≧150 mg/dL,and uric acid ≧ 7 mg/dL.There was no significant association between the raised GGT level and the presence of fatty liver. Hypertriglyceridemia was significantly and independently associated with both the raised GGT level and the presence of fatty liver. CONCLUSION:Metabolic syndrome seemed to be directly, not indirectly through fatty liver,associated with the raised GGT level in Japanese women.
基金Supported by the Shanghai Medical Development Project,No.993025
文摘AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4 typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER+ phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1), which had not been reported previously, were identified. The same mutations were also found in other affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismatch repair genes. High-level microsatellite instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of mismatch repair gene might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.
文摘In a panmictic population of constant size N, random pairs of individuals will have a most recent shared ancestor who lived slightly more than 0.5 log<sub>2</sub>N generations previously, on average. The probability that a random pair of individuals will share at least one ancestor who lived 0.5 log<sub>2</sub>N generations ago, or more recently, is about 50%. Those individuals, if they do share an ancestor from that generation, would be cousins of degree (0.5 log<sub>2</sub>N) - 1. Shared ancestry from progressively earlier generations increases rapidly until there is universal pairwise shared ancestry. At that point, every individual has one or more ancestors in common with every other individual in the population, although different pairs may share different ancestors. Those ancestors lived approximately 0.7 log<sub>2</sub>N generations in the past, or more recently. Qualitatively, the ancestries of random pairs have about 50% similarity for ancestors who lived about 0.9 log<sub>2</sub>N generations before the present. That is, about half of the ancestors from that generation belonging to one member of the pair are present also in the genealogy of the other member. Qualitative pairwise similarity increases to more than 99% for ancestors who lived about 1.4 log<sub>2</sub>N generations in the past. Similar results apply to a metric of quantitative pairwise genealogical overlap.
文摘Cultivated rice (Oryza sativa L.) is structured into five genetic groups, indica, aus, tropical japonica, temperate japonica and aromatic. Genetic characterization of rice germplasm collections will enhance their utilization by the global research community for improvement of rice. The USDA world collection of rice germ-plasm that was initiated in 1904 has resulted in over 18,000 accessions from 116 countries, but their ancestry information is not available. A core subset, including 1,763 accessions repre-senting the collection, was genotyped using 72 genome-wide SSR markers, and analyzed for genetic structure, genetic relationship, global distribution and genetic diversity. Ancestry analysis proportioned this collection to 35% indica, 27% temperate japonica, 24% tropical japonica, 10% aus and 4% aromatic. Graphing model-based ancestry coefficients demon-strated that tropical japonica showed up mainly in the American continents and part of the South Pacific and Oceania, and temperate japonica in Europe and the North Pacific far from the equator, which matched the responses to tem-perature. Indica is adapted to the warm areas of Southern Asia, South China, Southeast Asia, South Pacific and Central Africa and around the equator while aus and aromatic are special types of rice that concentrates in Bangladesh and India. Indica and aus were highly diversified while temperate and tropical japonicas had low diversity, indicated by average alleles and pri-vate alleles per locus. Aromatic has the most polymorphic information content. Indica and aromatic were genetically closer to tropical ja-ponica than temperate japonica. This study of global rice has found significant population stratification generally corresponding to major geographic regions of the world.
文摘Background: HPV infection represents an important etiologic factor for Oropharyngeal Squamous Cell Carcinoma (OPSCC). The different ethnic backgrounds could be related to different susceptibility to Human Papillomavirus (HPV). The aim of our study was to assess the whole of genetic ancestry in HPV status in OPSCC patients. Methods: We conducted a cross-sectional study on patients with OPSCC admitted to the Barretos Cancer Hospital, Brazil from 2014 to 2019. Of these, DNA extraction was performed on 40 patients and genetic ancestry was assessed using a specific panel of 46 informative ancestry markers. Results: We observed a predominance of European ancestry (63%), followed by African (18%), Amerindian (9%) and Asian (8%) both in the OPSCC HPV-positive and HPV-negative group. We did not find any statistically significant differences between the HPV-positive and HPV-negative OPSCC groups in relation to European (p = 0.499), African (p = 0.448), Asian (p = 0.275) or Amerindian (p = 0.836) ancestry. Conclusions: We found a predominance of European ancestry, both in the HPV-positive and HPV-negative groups. In our study, we did not find statistically significant differences between HPV-positive or HPV-negative groups in relation to ancestry.
基金supported by the Ministry of Science and Higher Education of the Russian Federation(No.075-152021-1037,Internal No.15.BRK.21.0001)。
文摘The worldwide chicken gene pool encompasses a remarkable,but shrinking,number of divergently selected breeds of diverse origin.This study was a large-scale genome-wide analysis of the landscape of the complex molecular architecture,genetic variability,and detailed structure among 49 populations.These populations represent a significant sample of the world's chicken breeds from Europe(Russia,Czech Republic,France,Spain,UK,etc.),Asia(China),North America(USA),and Oceania(Australia).Based on the results of breed genotyping using the Illumina 60K single nucleotide polymorphism(SNP)chip,a bioinformatic analysis was carried out.This included the calculation of heterozygosity/homozygosity statistics,inbreeding coefficients,and effective population size.It also included assessment of linkage disequilibrium and construction of phylogenetic trees.Using multidimensional scaling,principal component analysis,and ADMIXTURE-assisted global ancestry analysis,we explored the genetic structure of populations and subpopulations in each breed.An overall 49-population phylogeny analysis was also performed,and a refined evolutionary model of chicken breed formation was proposed,which included egg,meat,dual-purpose types,and ambiguous breeds.Such a large-scale survey of genetic resources in poultry farming using modern genomic methods is of great interest both from the viewpoint of a general understanding of the genetics of the domestic chicken and for the further development of genomic technologies and approaches in poultry breeding.In general,whole genome SNP genotyping of promising chicken breeds from the worldwide gene pool will promote the further development of modern genomic science as applied to poultry.
文摘Background Early clinical trials with the Endeavor zotarolimus eluting stent （ZES） in western populations demonstrated low rates of target lesion revascularization with a favorable safety profile including low late stent thrombosis with up to 5 years of follow-up. The aim of this clinical registry study was to evaluate real world clinical performance of the ZES coronary system in Chinese patients. Methods The China Endeavor Registry is a prospective, multicenter registry assessing the safety of the ZES system in a real world patient population. It was conducted at 46 centers in China in routine treatment of patients with coronary artery stenosis, including patients with clinical characteristics or lesion types that are often excluded from randomized controlled trials. The registry included 2210 adult patients who underwent single-vessel or multi-vessel percutaneous coronary intervention. The primary end point was the rate of major adverse cardiac events （MACE） at 12 months. Results The 12-month rate of MACE for all patients in the registry was 3.03%. Cardiac death or myocardial infarction rate was 1.28% and target lesion revascularization rate was 1.66%, non-target lesion target vessel revascularization （TVR） was 0.52%, TVR was 2.18%, and target vessel failure was 3.22%. There was only one case of emergent cardiac bypass surgery. The 12-month overall incidence of all Academic Research Consortium （ARC）-defined stent thrombosis was 0.43%. Conclusion Mid-term results from the real-world China Endeavor Registry suggest that Endeavor ZES was safe and effective in Chinese patients.
文摘At some future time, each person alive today will be either an ancestor of everyone or an ancestor of no one. If the global population were unstructured by geography, race, religion and other factors, the time to future common ancestry for present-day humans would be between 33 and 66 generations, or about 1000 - 2000 years. In a structured population, migration and intermarriage are the necessary conditions for global common ancestry. Simulation of random and hierarchical migration models, shows that time to future global ancestry is generally less than triple, and often less than twice, that required for an unstructured population. The models suggest that someone alive today will become a common ancestor of the entire world population by about 5000 CE, or sooner;and that all current humans who are destined to become global common ancestors will be so by about 8000 CE, or sooner. At which time, everybody then alive will have the exact same genealogical ancestors from the present day.
文摘Simulation was used to investigate the effects of population structure and migration on metrics of pairwise shared ancestry. Random and hierarchical structures, or migration geometries, were examined. Compared to panmictic populations, progress to all qualitative metrics of pairwise ancestry is delayed in structured populations. However, unless migration is very low, the time required is generally less than triple and often less than twice that required in a panmictic population of the same total size. Population structure also increases, to a similar degree, the time required for a population-wide most recent common ancestor (MRCA). As a result, the relationships between various qualitative metrics of pairwise shared ancestry and MRCA time are relatively unaffected by population structure. For example, the mean time to most recent shared ancestor (MRSA) with global sampling of pairs is 40% - 50% of the MRCA time for almost all simulated structures and migration levels. Quantitative pairwise genealogical overlap is strongly affected by population structure. With global sampling, pairwise quantitative overlap never approaches 1.0, as it does in panmictic populations;and instead eventually becomes stationary at much lower values. Possible implications of the present results for human pairwise shared ancestry are discussed. For globally sampled pairs, the longest time to most recent shared ancestor (MRSA) for humans is suggested to be approximately 2100 years before the present. If generation time is 30 years, then all humans are 69th, or closer, cousins. For people with recent European ancestry, the MRSA time may be only half as long, about 1000 years.
