Severe acute pancreatitis (SAP) is a common acute abdomen clinical problem characterized by high mortality, mul-tiple complications, complicated pathogenesis and difficult treatment. Recent studies found traditional C...Severe acute pancreatitis (SAP) is a common acute abdomen clinical problem characterized by high mortality, mul-tiple complications, complicated pathogenesis and difficult treatment. Recent studies found traditional Chinese medicine (TCM) monomers have markedly good effect for treating SAP. Many TCM monomers can inhibit pancreatin, resist inflammation, im-prove microcirculation and immunoloregulation, etc. to block the pathological progress of SAP in multiple ways, reduce com-plications and lower mortality with rapid effects. It is significant for enhancing SAP treatment to deeply understand the current situation in TCM monomers for treating SAP and take precious references therein. This article summarizes the treating effects and mechanisms of TCM monomers for SAP in recent years.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
AIM: To study the germline mutation of hPMS2 gene in 26 unrelated Chinese hereditary nonpolyposis colorectal cancer (HNPCC) probands and to fulfill the screening strategy for HNPCC in Chinese. METHODS: Genomic DNA was...AIM: To study the germline mutation of hPMS2 gene in 26 unrelated Chinese hereditary nonpolyposis colorectal cancer (HNPCC) probands and to fulfill the screening strategy for HNPCC in Chinese. METHODS: Genomic DNA was extracted from the peripheral blood. To avoid the interference of pseudogene in detection of the remaining 11 exons (exon 1-5, 9, 11-15), long-range polymerase chain reaction (PCR) was conducted to amplify the complete coding region of hPMS2 gene firstly. Then 1/8 of the PCR productswere used as template to amplify the individual exon respectively and DNA sequencing was done. Direct DNA sequencing of the conventional PCR products of exon 6, 7, 8 and 10 of hPMS2 gene was performed. The same analysis was made in 130 healthy persons without family histories of HNPCC to further investigate the pathological effects of the detected missense mutation. RESULTS: One HNPCC proband fulf illed Bethesda guidelines and was found to carry the germline mutation of hPMS2 gene, which has not been reported in Chinese HNPCC families. It was a missense mutation at c.1532C>T of exon 11. It was detected in three controls as well with an occurrence rate of 2.3% (3/130). Since it could not be found in the PMS2-single nucleotide polymorphism (SNP) database, this missense mutation is a new SNP unreported up to date. Meanwhile, 260 reported SNPs of hPMS2 gene were detected in the 26 HNPCC probands. The 2nd and 5th exons were probably the hot SNP regions of hPMS2 gene in Chinese HNPCC families involving 53.1% of all reported SNP. CONCLUSION: The germline mutation of hPMS2 gene may be rare in Chinese HNPCC families. The 2nd and 5th exons are hot SNP regions of hPMS2 gene.展开更多
AIM： To detect the MLH1 gene promoter germline- methylation in probands of Chinese hereditary non- polyposis colorectal cancer （HNPCC）, and to evaluate the role of methylation in MLH1 gene promoter and molecular ge...AIM： To detect the MLH1 gene promoter germline- methylation in probands of Chinese hereditary non- polyposis colorectal cancer （HNPCC）, and to evaluate the role of methylation in MLH1 gene promoter and molecular genetics in screening for HNPCC.METHODS： The promoter germline methylation of MLH1 gene was detected by methylation-specific PCR （MSP） in 18 probands from unrelated HNPCC families with high microsatellite-instability （MSI-H） phenotype but without germline mutations in MSH2, MLH1 and MSH6 genes. At the same time, 6 kindreds were col- lected with microsatellite-stability （MSS） phenotype but without germline mutations in MSH2, MIH1 and MSH6 genes as controls. The results of MSP were confirmed by clone sequencing. To ensure the reliability of the results, family H65 with nonsense germline mutation at c.2228C 〉 A in MSH2 gene was used as the negative control and the cell line sw48 was used as the known positive control along with water as the blank control. Immunochemical staining of MIH1 protein was performed with Envision two-step method in those patients with aberrant methylation to judge whether the status of MLH1 gene methylation affects the expression of MLH1 protein.RESULTS： Five probands with MIH1 gene promoter methylation were detected in 18 Chinese HNPCC families with MSI-H phenotype but without germline mutations in MSH2, MLH1 and MSH6 genes. Two of the five probands from families H10 and H29 displayed exhaustive-methylation, fulfilling the Japanese criteria （JC） and the Amsterdam criteria （AC）, respectively. The other 3 probands presented part-methylation fulfilling the AC. Of the 13 probands with unmethylation phenotype, 8 fulfilled the JC and the Bethesda guidelines （BG）, 5 fulfilled the AC. The rate of aberrant methylation in MLH1 gene in the AC group （22.2%, 4/18） was higher than that in the JC/BG groups （5.6%, 1/18） in all HNPCC families with MSI-H phenotype but without germline mutations in PISH2, PIIH1 and MSH6 genes. However, no proband with methy展开更多
AIM: To investigate the germline mutations of MSH6 gene in probands of Chinese hereditary non-polyposis colorectal cancer (HNPCC) families fulfilling different clinical criteria. METHODS: Germline mutations of MSH6 ge...AIM: To investigate the germline mutations of MSH6 gene in probands of Chinese hereditary non-polyposis colorectal cancer (HNPCC) families fulfilling different clinical criteria. METHODS: Germline mutations of MSH6 gene were detected by PCR-based DNA sequencing in 39 unrelated HNPCC probands fulfilling different clinical criteria in which MSH2 and MLH1 mutations were excluded. To further investigate the pathological effects of detected missense mutations, we analyzed the above related MSH6 exons using PCR-based sequencing in 137 healthy persons with no family history. The clinicopathological features were collected from the Archive Library of Cancer Hospital, Fudan University and analyzed. RESULTS: Four germline missense mutations distributed in the 4th, 6th and 9th exons were observed. Of them, three were not found in international HNPCC databases and did not occur in 137 healthy controls, indicating that they were novel missense mutations. The remaining mutation which is consistent with the case H14 at c.3488A>T of exon 6 of MSH6 gene was also found in the controls, the rate was approximately 3.65% (5/137) and the type of mutation was not found in the international HNPCC mutational and SNP databases, suggesting that this missense mutation was a new SNP unreported up to date. CONCLUSION: Three novel missense mutations and a new SNP observed in the probands of Chinese HNPCC families, may play an important role in the development of HNPCC.展开更多
BACKGROUND Laparoscopic cholecystectomy(LC)and laparoscopic common bile duct exploration(LCBDE)has been widely used for management of gallbladder and common bile duct(CBD)stones.Post-operative clip migration is a rare...BACKGROUND Laparoscopic cholecystectomy(LC)and laparoscopic common bile duct exploration(LCBDE)has been widely used for management of gallbladder and common bile duct(CBD)stones.Post-operative clip migration is a rare complication of laparoscopic biliary surgery,which can serve as a nidus for stone formation and cause recurrent cholangitis.CASE SUMMARY A 59-year-old female was admitted to hospital because of fever and acute right upper abdominal pain.She has a history of LC and had a LCBDE surgery 2 mo ago.Physical examination revealed tenderness in the upper quadrant of right abdomen.Computed tomography scan demonstrated a high-density shadow at the distal CBD,which was considered as migrated clips.The speculation was confirmed by endoscopic retrograde cholangiopancreatography examination,and two displaced Hem-o-lok clips were removed with a stone basket.No fever or abdominal pain presented after the operation.In addition to the case report,literature regarding surgical clip migration after laparoscopic biliary surgery was reviewed and discussed.CONCLUSION Incidence of postoperative clip migration may be reduced by using clips properly and correctly;however,new methods should be explored to occlude cystic duct and vessels.If a patient with a past history of LC or LCBDE presents with features of sepsis and recurrent upper quadrant pain,clip migration must be considered as one of the differential diagnosis.展开更多
AIM： TO detect the germline mutations Of hMLH1 and hMSH2 based on mRNA sequencing to identify hereditary non polyposis oolorectal cancer （HNPCC） families. METHODS： Total RNA was extracted from peripberal blood of ...AIM： TO detect the germline mutations Of hMLH1 and hMSH2 based on mRNA sequencing to identify hereditary non polyposis oolorectal cancer （HNPCC） families. METHODS： Total RNA was extracted from peripberal blood of 14 members from 12 different families fulfilling Amsterdam criteria II. mRNA of hMLH1 and hMSH2 was reversed with special primers and heat-resistant reverse tmnscriptase, cDNA was amplified with expand long template PCR and cDNA sequendng analysis was followed. RESULT： Seven germline mutations were found in 6 families （6/12, 50%）, in 4 hMLH1 and 3 hMSH2 mutations （4/12, 33.3%）; （3/12, 25%）. The mutation types involved 4 missense, 1 silent and 1 frame shift mutations as well as 1 mutation in the non-coding area. Four out of the seven mutations have not been reported previously. The 4 hMLH1 mutations were distributed in exons 8, 12, 16, and 19. The 3 hMSH2 mutations were distributed in exons 1 and 2. Six out of the 7 mutations were pathological, which were dislTibuted in 5 HNPCC families. CONCLUSION： Germline mutations of hMLH1 and hMSH2 can be found based on cDNA sequencing so as to identify HNPCC family, which is highly sensitive and has the advantages of cost and time saving.展开更多
Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregul...Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregular caliber flagella.Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins(CFAPs;e.g.,CFAP43,CFAP44,CFAP65,CFAP69,CFAP70,and CFAP251)responsible for the MMAF phenotype in infertile men from different ethnic groups.However,none of them have been identified in infertile Pakistani males with MMAF.In the current study,two Pakistani families with MMAF patients were recruited.Whole-exome sequencing(WES)of patients and their parents was performed.WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families(Family 1:ENST00000357060.3,p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state;Family 2:ENST00000357060.3,p.Thr526Serfs*43 in a homozygous state).Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype.Semiquantitative reverse-transcriptase polymerase chain reaction(qRT-PCR)was carried out to detect the effect of the mutation on mRNA of the affected gene.Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients.To the best of our knowledge,this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype.This study will help researchers and clinicians to understand the genetic etiology of MMAF better.展开更多
AIM： To detect germline mutations of MLH1, and investigate microsatellite instability and expression of MLH1 in tumor tissues of hereditary non-polyposis colorectal cancer （HNPCC） with two novel germline mutations,...AIM： To detect germline mutations of MLH1, and investigate microsatellite instability and expression of MLH1 in tumor tissues of hereditary non-polyposis colorectal cancer （HNPCC） with two novel germline mutations, and further investigate the pathobiology of the two novel mutations of MLH1. METHODS： RNA was extracted from the peripheral blood of 12 patients from 12 different families that fulfilled the Amsterdam 11 Criteria for HNPCC. Germline mutations of MLH1 were determined by RT-PCR, followed by cDNA sequencing analysis. PCR-GeneScan analysis was used to investigate microsatellite instability with a panel of five microsatellite markers （BAT26, BAT25, D5S346, D2S123 and mfd15）, along with immunohistochemical staining to detect the expression of MLH1 protein in two patients＇ tumor tissues with novel mutations. RESULTS： Three germline mutations were found in four patients, one of the mutations has previously been reported, but the other two, CGC→TGC at codon 217 of exon 8 and CCG→CTG at codon 581 of exon 16, have not been reported. The two patients＇ tumor tissues with novel mutations had high-frequency microsatellite instability that showed more than two unstable loci, and both tumors lost their MLH1 protein expression. CONCLUSION： The two novel germline mutations of MLH1 in HNPCC families i.e. CGC→TGC at codon 217 of exon 8 and CCG→CTG at codon 581 of exon 16, are very likely to have pathological significance.展开更多
Infertility is a major health issue,affecting approximately 15%of couples of child-bearing age.Although nearly half of idiopathic infertility cases are assumed to have a genetic basis,the underlying causes remain larg...Infertility is a major health issue,affecting approximately 15%of couples of child-bearing age.Although nearly half of idiopathic infertility cases are assumed to have a genetic basis,the underlying causes remain largely unknown in most infertile men.展开更多
The leakage of iterations from chaotic attractor near crisis due to dynamical inter-action between discontinuity and noninvertibility has been studied.The scaling law of the mean life time is derived analytically.The ...The leakage of iterations from chaotic attractor near crisis due to dynamical inter-action between discontinuity and noninvertibility has been studied.The scaling law of the mean life time is derived analytically.The numerical result shows very good agreement.展开更多
This paper reports the results of a double-blind trial in 220 patients with acute cerebral in-farction evidenced by computerized tomography, who were randomly divided into a Chuanxiong group(134 cases) and a low molec...This paper reports the results of a double-blind trial in 220 patients with acute cerebral in-farction evidenced by computerized tomography, who were randomly divided into a Chuanxiong group(134 cases) and a low molecular weight dextran group (86 cases) . A weighted scoring system was adopt-ed to evaluate the neurological function and living capability. The results showed that the total therapeuticefficacy rate in the Chuanxiong group and in the dextran 40 group were 86. 6% and 62. 8% respectively.The effects of Chuanxiong on the treatment of acute cerebral infarction was superior to the low molecularweight dextran, and the difference between the two groups was statistically significant (P<O. 01) .展开更多
以工业硅为原料,利用介质熔炼、定向凝固和电子束熔炼三种熔体处理技术对工业硅中的B、P和金属杂质进行了去除,制备出了99.9999%级多晶硅材料,其中,杂质B和P的含量分别低于0.20 ppmw(parts per million(weight),百万分之一质量),金属杂...以工业硅为原料,利用介质熔炼、定向凝固和电子束熔炼三种熔体处理技术对工业硅中的B、P和金属杂质进行了去除,制备出了99.9999%级多晶硅材料,其中,杂质B和P的含量分别低于0.20 ppmw(parts per million(weight),百万分之一质量),金属杂质总含量(TM)低于0.23 ppmw。研究发现,介质熔炼去除杂质B的过程中,熔体中发生氧化还原反应可以有效去除大部分的杂质Al和Ca;电子束熔炼过程中,利用饱和蒸气压原理可以有效去除挥发性杂质P、Al、Ca,同时降束诱导多晶硅定向凝固,可将其他金属杂质进一步去除。本研究通过各技术间的耦合除杂,减少了冶金法提纯多晶硅的工序,为连续化、规模化生产提供了技术支撑。展开更多
基金Project supported by the Adminisitration of Traditional Chinese Medicine of Zhejiang Province (Nos. 2003C130 and 2004C142), the Medical Science and Technology of Health Department of Zhejiang Province (No. 2003B134), the Technology and Development of Technological Bureau of Hangzhou (No. 2003123B19), China
文摘Severe acute pancreatitis (SAP) is a common acute abdomen clinical problem characterized by high mortality, mul-tiple complications, complicated pathogenesis and difficult treatment. Recent studies found traditional Chinese medicine (TCM) monomers have markedly good effect for treating SAP. Many TCM monomers can inhibit pancreatin, resist inflammation, im-prove microcirculation and immunoloregulation, etc. to block the pathological progress of SAP in multiple ways, reduce com-plications and lower mortality with rapid effects. It is significant for enhancing SAP treatment to deeply understand the current situation in TCM monomers for treating SAP and take precious references therein. This article summarizes the treating effects and mechanisms of TCM monomers for SAP in recent years.
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.
基金Supported by The Initiation Fund for Prominent Young Researchers of Shanghai Medical College,Fudan University
文摘AIM: To study the germline mutation of hPMS2 gene in 26 unrelated Chinese hereditary nonpolyposis colorectal cancer (HNPCC) probands and to fulfill the screening strategy for HNPCC in Chinese. METHODS: Genomic DNA was extracted from the peripheral blood. To avoid the interference of pseudogene in detection of the remaining 11 exons (exon 1-5, 9, 11-15), long-range polymerase chain reaction (PCR) was conducted to amplify the complete coding region of hPMS2 gene firstly. Then 1/8 of the PCR productswere used as template to amplify the individual exon respectively and DNA sequencing was done. Direct DNA sequencing of the conventional PCR products of exon 6, 7, 8 and 10 of hPMS2 gene was performed. The same analysis was made in 130 healthy persons without family histories of HNPCC to further investigate the pathological effects of the detected missense mutation. RESULTS: One HNPCC proband fulf illed Bethesda guidelines and was found to carry the germline mutation of hPMS2 gene, which has not been reported in Chinese HNPCC families. It was a missense mutation at c.1532C>T of exon 11. It was detected in three controls as well with an occurrence rate of 2.3% (3/130). Since it could not be found in the PMS2-single nucleotide polymorphism (SNP) database, this missense mutation is a new SNP unreported up to date. Meanwhile, 260 reported SNPs of hPMS2 gene were detected in the 26 HNPCC probands. The 2nd and 5th exons were probably the hot SNP regions of hPMS2 gene in Chinese HNPCC families involving 53.1% of all reported SNP. CONCLUSION: The germline mutation of hPMS2 gene may be rare in Chinese HNPCC families. The 2nd and 5th exons are hot SNP regions of hPMS2 gene.
基金Supported by Shanghai Medical Development Fund for Major Projects, No. 05III004Shanghai Pujiang Projects for Talents, No. 06PJ14019
文摘AIM： To detect the MLH1 gene promoter germline- methylation in probands of Chinese hereditary non- polyposis colorectal cancer （HNPCC）, and to evaluate the role of methylation in MLH1 gene promoter and molecular genetics in screening for HNPCC.METHODS： The promoter germline methylation of MLH1 gene was detected by methylation-specific PCR （MSP） in 18 probands from unrelated HNPCC families with high microsatellite-instability （MSI-H） phenotype but without germline mutations in MSH2, MLH1 and MSH6 genes. At the same time, 6 kindreds were col- lected with microsatellite-stability （MSS） phenotype but without germline mutations in MSH2, MIH1 and MSH6 genes as controls. The results of MSP were confirmed by clone sequencing. To ensure the reliability of the results, family H65 with nonsense germline mutation at c.2228C 〉 A in MSH2 gene was used as the negative control and the cell line sw48 was used as the known positive control along with water as the blank control. Immunochemical staining of MIH1 protein was performed with Envision two-step method in those patients with aberrant methylation to judge whether the status of MLH1 gene methylation affects the expression of MLH1 protein.RESULTS： Five probands with MIH1 gene promoter methylation were detected in 18 Chinese HNPCC families with MSI-H phenotype but without germline mutations in MSH2, MLH1 and MSH6 genes. Two of the five probands from families H10 and H29 displayed exhaustive-methylation, fulfilling the Japanese criteria （JC） and the Amsterdam criteria （AC）, respectively. The other 3 probands presented part-methylation fulfilling the AC. Of the 13 probands with unmethylation phenotype, 8 fulfilled the JC and the Bethesda guidelines （BG）, 5 fulfilled the AC. The rate of aberrant methylation in MLH1 gene in the AC group （22.2%, 4/18） was higher than that in the JC/BG groups （5.6%, 1/18） in all HNPCC families with MSI-H phenotype but without germline mutations in PISH2, PIIH1 and MSH6 genes. However, no proband with methy
基金Supported by Shanghai Medical Development Fund for Major Projects, No. 05Ⅲ004 and Shanghai Pu Jiang Projects for Talented-Men, 06PJ14019
文摘AIM: To investigate the germline mutations of MSH6 gene in probands of Chinese hereditary non-polyposis colorectal cancer (HNPCC) families fulfilling different clinical criteria. METHODS: Germline mutations of MSH6 gene were detected by PCR-based DNA sequencing in 39 unrelated HNPCC probands fulfilling different clinical criteria in which MSH2 and MLH1 mutations were excluded. To further investigate the pathological effects of detected missense mutations, we analyzed the above related MSH6 exons using PCR-based sequencing in 137 healthy persons with no family history. The clinicopathological features were collected from the Archive Library of Cancer Hospital, Fudan University and analyzed. RESULTS: Four germline missense mutations distributed in the 4th, 6th and 9th exons were observed. Of them, three were not found in international HNPCC databases and did not occur in 137 healthy controls, indicating that they were novel missense mutations. The remaining mutation which is consistent with the case H14 at c.3488A>T of exon 6 of MSH6 gene was also found in the controls, the rate was approximately 3.65% (5/137) and the type of mutation was not found in the international HNPCC mutational and SNP databases, suggesting that this missense mutation was a new SNP unreported up to date. CONCLUSION: Three novel missense mutations and a new SNP observed in the probands of Chinese HNPCC families, may play an important role in the development of HNPCC.
基金Medical and Health Technology Plan of Zhejiang Province,No.2019RC179.
文摘BACKGROUND Laparoscopic cholecystectomy(LC)and laparoscopic common bile duct exploration(LCBDE)has been widely used for management of gallbladder and common bile duct(CBD)stones.Post-operative clip migration is a rare complication of laparoscopic biliary surgery,which can serve as a nidus for stone formation and cause recurrent cholangitis.CASE SUMMARY A 59-year-old female was admitted to hospital because of fever and acute right upper abdominal pain.She has a history of LC and had a LCBDE surgery 2 mo ago.Physical examination revealed tenderness in the upper quadrant of right abdomen.Computed tomography scan demonstrated a high-density shadow at the distal CBD,which was considered as migrated clips.The speculation was confirmed by endoscopic retrograde cholangiopancreatography examination,and two displaced Hem-o-lok clips were removed with a stone basket.No fever or abdominal pain presented after the operation.In addition to the case report,literature regarding surgical clip migration after laparoscopic biliary surgery was reviewed and discussed.CONCLUSION Incidence of postoperative clip migration may be reduced by using clips properly and correctly;however,new methods should be explored to occlude cystic duct and vessels.If a patient with a past history of LC or LCBDE presents with features of sepsis and recurrent upper quadrant pain,clip migration must be considered as one of the differential diagnosis.
基金Supported by the Key Programs of Shanghai Medical Subjects, No. 05 Ⅲ 004
文摘AIM： TO detect the germline mutations Of hMLH1 and hMSH2 based on mRNA sequencing to identify hereditary non polyposis oolorectal cancer （HNPCC） families. METHODS： Total RNA was extracted from peripberal blood of 14 members from 12 different families fulfilling Amsterdam criteria II. mRNA of hMLH1 and hMSH2 was reversed with special primers and heat-resistant reverse tmnscriptase, cDNA was amplified with expand long template PCR and cDNA sequendng analysis was followed. RESULT： Seven germline mutations were found in 6 families （6/12, 50%）, in 4 hMLH1 and 3 hMSH2 mutations （4/12, 33.3%）; （3/12, 25%）. The mutation types involved 4 missense, 1 silent and 1 frame shift mutations as well as 1 mutation in the non-coding area. Four out of the seven mutations have not been reported previously. The 4 hMLH1 mutations were distributed in exons 8, 12, 16, and 19. The 3 hMSH2 mutations were distributed in exons 1 and 2. Six out of the 7 mutations were pathological, which were dislTibuted in 5 HNPCC families. CONCLUSION： Germline mutations of hMLH1 and hMSH2 can be found based on cDNA sequencing so as to identify HNPCC family, which is highly sensitive and has the advantages of cost and time saving.
基金This work was supported by the National Natural Science Foundation of China(No.32070850)the National Natural Science Foundation of China(No.31630050,31890780,and 32061143006)+2 种基金the National Key Research and Developmental Program of China(2018YFC1003900,2019YFA0802600,and 2016YFC1000600)the Strategic Priority Research Program of the Chinese Academy of Sciences(No.XDB19000000)the Fundamental Research Funds for the Central Universities(No.YD2070002006).
文摘Multiple morphological abnormalities of the sperm flagella(MMAF)is a specific type of asthenoteratozoospermia,presenting with multiple morphological anomalies in spermatozoa,such as absent,bent,coiled,short,or irregular caliber flagella.Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins(CFAPs;e.g.,CFAP43,CFAP44,CFAP65,CFAP69,CFAP70,and CFAP251)responsible for the MMAF phenotype in infertile men from different ethnic groups.However,none of them have been identified in infertile Pakistani males with MMAF.In the current study,two Pakistani families with MMAF patients were recruited.Whole-exome sequencing(WES)of patients and their parents was performed.WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families(Family 1:ENST00000357060.3,p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state;Family 2:ENST00000357060.3,p.Thr526Serfs*43 in a homozygous state).Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype.Semiquantitative reverse-transcriptase polymerase chain reaction(qRT-PCR)was carried out to detect the effect of the mutation on mRNA of the affected gene.Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients.To the best of our knowledge,this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype.This study will help researchers and clinicians to understand the genetic etiology of MMAF better.
基金the Key Project of Shanghai Medical Subjects,No.05Ⅲ004 and Shanghai Pujiang Program,No.06PJ14019
文摘AIM： To detect germline mutations of MLH1, and investigate microsatellite instability and expression of MLH1 in tumor tissues of hereditary non-polyposis colorectal cancer （HNPCC） with two novel germline mutations, and further investigate the pathobiology of the two novel mutations of MLH1. METHODS： RNA was extracted from the peripheral blood of 12 patients from 12 different families that fulfilled the Amsterdam 11 Criteria for HNPCC. Germline mutations of MLH1 were determined by RT-PCR, followed by cDNA sequencing analysis. PCR-GeneScan analysis was used to investigate microsatellite instability with a panel of five microsatellite markers （BAT26, BAT25, D5S346, D2S123 and mfd15）, along with immunohistochemical staining to detect the expression of MLH1 protein in two patients＇ tumor tissues with novel mutations. RESULTS： Three germline mutations were found in four patients, one of the mutations has previously been reported, but the other two, CGC→TGC at codon 217 of exon 8 and CCG→CTG at codon 581 of exon 16, have not been reported. The two patients＇ tumor tissues with novel mutations had high-frequency microsatellite instability that showed more than two unstable loci, and both tumors lost their MLH1 protein expression. CONCLUSION： The two novel germline mutations of MLH1 in HNPCC families i.e. CGC→TGC at codon 217 of exon 8 and CCG→CTG at codon 581 of exon 16, are very likely to have pathological significance.
基金supported by the Fundamental Research Funds for the Central Universities(WK2070080005)。
文摘Infertility is a major health issue,affecting approximately 15%of couples of child-bearing age.Although nearly half of idiopathic infertility cases are assumed to have a genetic basis,the underlying causes remain largely unknown in most infertile men.
基金Supported by the Chinese National Basic Research Project“Nonlinear Science”the National Natural Science Foundation of Chinathe Science Foundation of Shaanxi Province.
文摘The leakage of iterations from chaotic attractor near crisis due to dynamical inter-action between discontinuity and noninvertibility has been studied.The scaling law of the mean life time is derived analytically.The numerical result shows very good agreement.
文摘This paper reports the results of a double-blind trial in 220 patients with acute cerebral in-farction evidenced by computerized tomography, who were randomly divided into a Chuanxiong group(134 cases) and a low molecular weight dextran group (86 cases) . A weighted scoring system was adopt-ed to evaluate the neurological function and living capability. The results showed that the total therapeuticefficacy rate in the Chuanxiong group and in the dextran 40 group were 86. 6% and 62. 8% respectively.The effects of Chuanxiong on the treatment of acute cerebral infarction was superior to the low molecularweight dextran, and the difference between the two groups was statistically significant (P<O. 01) .
文摘以工业硅为原料,利用介质熔炼、定向凝固和电子束熔炼三种熔体处理技术对工业硅中的B、P和金属杂质进行了去除,制备出了99.9999%级多晶硅材料,其中,杂质B和P的含量分别低于0.20 ppmw(parts per million(weight),百万分之一质量),金属杂质总含量(TM)低于0.23 ppmw。研究发现,介质熔炼去除杂质B的过程中,熔体中发生氧化还原反应可以有效去除大部分的杂质Al和Ca;电子束熔炼过程中,利用饱和蒸气压原理可以有效去除挥发性杂质P、Al、Ca,同时降束诱导多晶硅定向凝固,可将其他金属杂质进一步去除。本研究通过各技术间的耦合除杂,减少了冶金法提纯多晶硅的工序,为连续化、规模化生产提供了技术支撑。
