Efficacy comparison among high risk factors questionnaire and Asia-Pacific colorectal screening score and their combinations with fecal immunochemical test in screening advanced colorectal tumor / 中华胃肠外科杂志

Objective: To investigate the effects of high risk factors questionnaire (HRFQ), Asia-Pacific colorectal screening (APCS) score and their combinations with fecal immunochemical test (FIT) in screening advanced colorectal neoplasia, in order to provide an evidence for further optimization of cancer screening program. Methods: A retrospective cohort study method was used to summarize and analyze the results of colorectal tumor screening in Jiashan County, Zhejiang Province from March 2017 to July 2018. Those with severe diseases that were not suitable for colonoscopy and those with mental and behavioral abnormalities who can not cooperate with the screening were excluded. Those who met any one or more of the followings in the HRFQ questionnaire were classified as high-risk people of HRFQ: (1) first-degree relatives with a history of colorectal cancer; (2) subjects with a history of cancer or any other malignant tumor; (3) subjects with a history of intestinal polyps; (4) those with two or more of the followings: chronic constipation (constipation lasted for more than 2 months per year in the past two years), chronic diarrhea (diarrhea lasted for more than 3 months in the past two years, and the duration of each episode was more than one week), mucus and bloody stools, history of adverse life events (occurring within the past 20 years and causing greater trauma or distress to the subject after the event), history of chronic appendicitis or appendectomy, history of chronic biliary disease or cholecystectomy. In this study, those who were assessed as high risk by HRFQ were recorded as "HRFQ (+)", and those who were not at high risk were recorded as "HRFQ (-)". The APCS questionnaire provided risk scores based on 4 risk factors including age, gender, family history and smoking: (1) age: 2 points for 50-69 years old, 3 points for 70 years old and above; (2) gender: 1 point for male, 0 point for women; (3) family history: 2 points for first-degree relatives suffering from colorectal cancer; (4) smoking: 1 point for current or past smoking, 0 point for non-smokers. The population was divided into low-risk (0-1 point), intermediate-risk (2-3 points), and high-risk (4-7 points). Those who were assessed as high risk by APCS were recorded as "APCS (+)", and those with intermediate and low risk were recorded as "APCS (-)". The hemoglobin threshold for a positive FIT was set to 100 μg/L. Those who were assessed as high risk by APCS with positive FIT were recorded as "APCS+FIT (+)". Those who were assessed as high risk by APCS with negative FIT, those who were assessed by APCS as low-middle risk with positive FIT, and those who were assessed by APCS as low-middle with negative FIT were all recorded as "APCS+FIT(-)". Observation indicators in this study were as follows: (1) the screening compliance rate of the cohort and the detection of advanced colorectal tumors; (2) positive predictive value, negative predictive value, sensitivity and specificity of HRFQ and APCS and their combination with FIT for screening advanced colorectal tumors; (3) comparison of the detection rate between HRFQ and APCS questionnaire for different colorectal lesions. Using SPSS 21.0 software, the receiver operating characteristic (ROC) curve was drawn to evaluate the clinical value of HRFQ and APCS combined with FIT in screening advanced colorectal tumors. Results: From 2017 to 2018 in Jiashan County, a total of 53 268 target subjects were screened, and 42 093 people actually completed the questionnaire, with a compliance rate of 79.02%. A total of 8145 cases underwent colonoscopy. A total of 3607 cases among HRFQ positive population (5320 cases) underwent colonoscopy, and the colonoscopy compliance rate was 67. 80%; 8 cases were diagnosed with colorectal cancer and 88 cases were advanced colorectal adenoma. A total of 2977 cases among APCS positive population (11 942 cases) underwent colonoscopy, and the colonoscopy compliance rate was 24.93%; 17 cases were diagnosed with colorectal cancer and 148 cases were advanced colorectal adenoma. The positive rate of HRFQ screening was lower than that of APCS [12.6% (5320/42 093) vs. 28.4% (11 942/42 093), χ2=3195. 547, P<0.001]. In the FIT positive population (6223 cases), a total of 4894 cases underwent colonoscopy, and the colonoscopy compliance rate was 78.64%; 34 cases were diagnosed with colorectal cancer and 224 cases were advanced adenoma. The positive predictive values of HRFQ and APCS and their combination with FIT for screening advanced colorectal tumors were 2.67%, 5.54%, 5.44%, and 8.56%; negative predictive values were 94.89%, 96.85%, 96.11% and 96.99%; sensitivity was 29.27%, 50.30%, 12.20 % and 39.02%; specificity was 55.09%, 64.03%, 91.11% and 82.51%, respectively. The ROC curves constructed by HRFQ, APCS, FIT, HRFQ+FIT and APCS+FIT indicated that APCS+FIT presented the highest efficacy in screening advanced colorectal tumors (AUC: 0.608, 95%CI: 0.574-0.642). The comparison of the detection rates of different colorectal lesions between HRFQ and APCS questionnaires showed that there were no significant differences in detection rate of inflammatory polyps and hyperplastic polyps between the two questionnaires (both P>0.05). However, as compared to HRFQ questionnaire, APCS questionnaire had higher detection rates in non-advanced adenomas [26.10% (777/2977) vs. 19.43% (701/3607), χ2=51.228, P<0.001], advanced adenoma [4.97% (148/2977) vs. 2.44% (88/3607), χ2=30.249, P<0.001] and colorectal cancer [0.57% (17 /2977) vs. 0.22% (8/3607), χ2=5.259, P=0.022]. Conclusions: APCS has a higher detection rate of advanced colorectal tumors than HRFQ. APCS combined with FIT can further improve the effectiveness of advanced colorectal tumor screening.

Application of enhanced recovery after surgery in postoperative rehabilitation of osteoporotic lumbar compression fractures with percutaneous vertebroplasty or percutaneous kyphoplasty / 中国骨伤

OBJECTIVE@#To study effects of postoperative regular training of core muscle strength guided by the concept of enhanced recovery after surgery (ERAS) on the rehabilitation of elderly patients with osteoporotic lumbar vertebral compression fracture after vertebroplasty (PVP) and kyphoplasty(PKP).@*METHODS@#Ninety-four elderly patients with osteoporotic lumbar compression fractures who underwent PKP or PVP from January 2016 to January 2018 and met inclusion criteria were divided into observation group and control group. All the patients were treated with routine anti osteoporosis therapy after operation. There were 47 patients in the observationgroup, including 18 males and 29 females, with an average age of (62.62±3.21) years old;in the control group, there were 47 cases, including 17 males and 30 females, with an average age of (62.38±2.84) years old. The patients in the control group were trained by traditional way, and the patients in observation group were instructed to conduct regular training of core muscle strength according to ERAS concept. The patients were followed up for 1, 3 and 6 months after operation. Patients' conditions were quantitatively evaluated according to Barthel scale, JOA low back pain score and Oswestry Disability Index, and the differences in treatment effects between two groups were statistically analyzed and compared.@*RESULTS@#All the patients were followed up, and the Barthel scale, JOA low back pain score and Oswestry Disability Index score of the observation group were all better than those of the control group on the 1st and the 3rd months after surgery(@*CONCLUSION@#Early regular core strength training has a positive effect on early functional recovery and improvement of life ability after PKP or PVP for elderly patients with osteoporotic lumbar compression fractures, which is in line with the concept of accelerated rehabilitation surgery.

Preliminary application of CPC/PMMA composite bone cement in kyphoplasty for the elderly / 中国骨伤

OBJECTIVE@#From the perspective of clinical application to analyze the effectiveness and reliability of CPC/PMMA bone cement in percutaneous kyphoplasty (PKP) for the treatment of elderly patients with osteoporotic thoracolumbar fractures.@*METHODS@#A retrospective analysis was performed on 62 patients with osteoporotic compression fracture of single-vertebral thoracic or lumbar segment who underwent PKP surgery and had a bone density less than or equal to -3.0 SD from February 2016 to December 2016. Among them, 23 patients were in CPC/PMMA group, with an average age of (77.6±2.2) years old, 39 patients in PMMA group, with an average age of (77.1±1.1) years old. The indexes between two groups were compared, including the visual analogue scale (VAS), height ratio of anterior vertebra (AVHR), local Cobb angle, cement leakage, new adjacent vertebral fracture(NAVF).@*RESULTS@#There were no significant difference in gender, age, follow-up time and preoperative VAS, AVHR, local Cobb angle between two groups (>0.05), at the 1 day after operation, VAS, AVHR, local Cobb angle in all patients got obvious improvement (0.05). At the same time, there was no statistically significant difference in the incidence of new adjacent vertebral fracture and cement leakage (>0.05). The pain in both groups continued to improve at follow up after operation (<0.05), the local Cobb angle increased (<0.05) and AVHR decreased slightly (<0.05). However, the images of conventional methods (X-ray or CT) could not find signs about CPC degeneration and new bone ingrowth.@*CONCLUSION@#CPC/PMMA composite bone cement is safe and reliablein PKP for treatment of elderly patients with osteoporotic thoracolumbar fractures, which can effectively relieve pain and maintain vertebral body stability. It has the same curative effect as PMMA bone cement. It was worthy to research more in future, although no direct evidences support the CPC/PMMA composite bone cement can reduce the incidence of adjacent vertebral fracture, CPC degeneration or new bone ingrowth.

Association between platelet count and the risk and progression of hand, foot, and mouth disease among children

OBJECTIVE: We aimed to evaluate the association between platelet (PLT) count and the risk and progression of hand, foot, and mouth disease (HFMD). METHODS: In total, 122 HFMD patients and 40 healthy controls were enrolled in the study. The differences between variables among the different subgroups were compared. Logistic regression analyses were performed to assess the relationship between various parameters and HFMD risk/progression. Sensitivity analysis was conducted by detecting the trend of the association between PLT count quartiles and HFMD risk/progression. A generalized additive model was used to identify the nonlinear relationship between PLT count and HFMD risk/progression. The relationship between gender and PLT count as well as the risk/progression of HFMD was detected using a stratified logistic regression model. RESULTS: Significant differences were observed in terms of age, male/female ratio, white blood cell (WBC) count, and PLT count between patients with stage I-II, III-IV HFMD and healthy controls. Moreover, the alanine aminotransferase and magnesium levels between patients with stage I-II and III-IV HFMD significantly differed. Moreover, a significant difference was noted in the male/female ratio among the different PLT groups. The group with a low PLT count had a lower risk of HFMD progression than the group with a high PLT count (Q4) (p=0.039). Lower age, male gender, and WBC count were found to be associated with HFMD risk. Meanwhile, PLT count was correlated to HFMD progression. The sensitivity analysis yielded a similar result using the minimally adjusted model (p for trend=0.037), and minimal changes were observed using the crude and fully adjusted model (p for trend=0.054; 0.090). A significant nonlinear relationship was observed between PLT count and HFMD progression after adjusting for age, gender, and WBC (p=0.039). CONCLUSIONS: PLT was independently associated with HFMD progression in a nonlinear manner.

Effective strategies for improving the stability of peptides in vivo / 药学学报

Peptides have been extensively used in the fields of gene/drug delivery and disease targeting therapy. However, natural peptides are sensitive to protease digestion with short circulatory half-lives in vivo. Many studies on structural modifications of peptides have been reported to improve the delivery or therapeutic effect. In this review we focus on the recent literature on peptide stability in accordance with different structural modifications and summarize the methods and influential factors that are involved in the improvement of stability and half-life in vivo. This review will provide the scientific basis and theoretical references for further investigations and applications in vivo.

Clinical comparative study of short-segment and long-segment fixation for single-segment thoracic and lumbar spine III stage Kümmell disease / 中国骨伤

OBJECTIVE@#By comparing the clinical efficacy of short-segment and long-segment fixation for single-segment thoracic and lumbar spine III stage Kümmell disease to explore a more suitable fixed segment for the disease.@*METHODS@#The clinical data of 46 patients with single-segment thoracic and lumbar spine III stage Kümmell disease treated from July 2013 to December 2016 were retrospectively analyzed. Forty-six patients were divided into short-segment fixation group(one vertebra above and below the diseased vertebra) and long-segment fixation group(two vertebrae on the upper and lower of the diseased vertebra) according to different methods of cement stick fixation. There were 25 patients in the short-segment fixation group, including 9 males and 16 females, with an average age of (75.3±4.5) years old, lumbar spine bone mineral density T-value of (-3.1±0.3) g/cm³, follow-up time of (13.0±2.3) months; there were 21 patients in long-segment fixation group, 6 males and 15 females, with an average age of (74.5±3.9) years old, lumbar spine bone mineral density T-value of (-3.2±0.3) g/cm³, follow-up time of (14.7±3.6) months.The gender, age, follow-up time, operation time, intraoperative blood loss, cement leakage, and the rate of adjacent vertebrae fractures were compared between two groups, as well as pain VAS score, ODI, and kyphosis angle before and after surgery.@*RESULTS@#There were no significant differences in age, gender, bone density, pain VAS score, ODI, and kyphosis between two groups before surgery. The operation time and intraoperative blood loss of short-segment fixation group were less than that of long-segment fixation group. The pain VAS score, ODI and kyphosis of the two groups were significantly improved at 7 days after the operation and at the latest follow-up, there was no significant difference between two groups. There were no significant differences in bone cement leakage(9/25 vs 11/21) and adjacent vertebrae fractures(4/25 vs 3/21).@*CONCLUSIONS@#Both long-segment fixation and short-segment fixation can effectively relieve pain, correct kyphosis, improve functional index, and achieve better clinical results, but short-segment fixation has less operation time and less intraoperative blood. So single-segment thoracic and lumbar spine III stage Kümmell disease does not need to extend the fixed segment, short-segment fixation is more in line with clinical needs and worthy of further study.

Diagnostic value of endobronchial ultrasound-guided transbronchial needle aspiration for lung cancer and mediastinal lesions / 复旦学报（医学版）

Objective To investigate the diagnostic value of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in lung carcinoma and mediastinal lesions.Methods From Jan.,2015 to Dec.,2015,368 patients with hilar and/or mediastinal lymphadenopathy or mass outside the airways by CT scan or PET/CT in Department of Pulmonary Medicine,Zhongshan Hospital,Fudan University were enrolled and recieved EBUS-TBNA examination.All of their clinical data were collected.Results Retrospective analysis was performed in the 368 patients.In the 252 patients diagnosed as malignancy,232 patients were diagnosed by EBUS-TBNA,while the other 116 patients were diagnosed as benign disease.The diagnostic concordance rate was 92.9 ％.A total of 387 lymph nodes and 56 masses outside the airways were found among the 368 patients received EBUS-TBNA procedure.The sensitivity and specificity of EBUS-TBNA were 92.1 ％ and 100 ％,respectively.Conclusions EBUS-TBNA is an effective and safe method with high specificity and sensitivity in diagnosis of unknown hilar and/or mediastinal lymphadenopathy,mediastinal mass as well as lymph node staging in lung cancer patients.

Monitoring EGFR T790M mutations by Blocker PCR in plasma of advanced non-small-cell lung cancer patients with EGFR-TKI acquired resistance / 复旦学报（医学版）

Objective To evaluate the feasibility of Blocker PCR assays in monitoring T790M mutations in plasma of non-small-cell lung cancer (NSCLC) patients with epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) acquired resistance.Methods Blocker PCR assays were employed to identify mutations in plasma for 127 advanced NSCLC with acquired EGFR-TKI resistance.In addition,the paired tumor re-biopsy or PE samples were obtained to analyze EGFR mutations.Meanwhile,we evaluated the detection accuracy of Blocker PCR assays in comparison with the next generation sequencing (NGS).Results Among the 127 patients,40.15％ (51/127) EGFR T790M was detected in the plasma,78.44％ (40/51) coexisted with an EGFR activating mutation.Additionally,54.54 ％ (6/11) EGFR T790M was identified in re-biopsy tissues,while 43.75 ％ (14/32) were detected in the plasma.Furthermore,the concordance rate of Blocker PCR and NGS in identifying EGFR sensitizing mutations and EGFR T790M mutations was 100％.Conclusions Blocker PCR is a highly sensitive and reliable method in monitoring EGFR T790M mutations in the plasma of NSCLC patients with EGFR-TKI acquired resistance.

Transfection of CTGF siRNA inhibits transdifferentiation in human lens epithelium cell line B3 in vitro / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To investigate the expression of connective tissue growth factor (CTGF) and α-SMA in human lens epithelium cell (HLEC) line B3 after transfection by liposome-coated siRNA targeting CTGF.METHODS: HLECs were transfected with small interfering RNA (siRNA) targeting CTGF,labeled with 5`-fluorescein isothiocyanate (5`-FITC) and coated with lipofectamine.The transfection ratio was evaluated via fluorescence intensity.Cell counting kit-8 (CCK-8) assay was performed to assess cytoviability of both non-transfected and transfected HLECs.Quantitative RT-PCR,cell immunochemistry and Western blot analysis were conducted to detect the expression changes of CTGF and α-SMA after transfection.RESULTS: A highly effective transfection ratio was observed in siRNA co-transfected with lipofectamine.The transfection ratio reached 95% at 24h.The proliferation of HLECs was inhibited by siRNA after 72h transfection.The expression of CTGF and α-SMA significantly decreased in HLECs after transfected by CTGF siRNA for 24h.This effect was not found in negative control siRNA.CONCLUSIONS: SiRNA targeting CTGF decreased CTGF and α-SMA expression in HLECs,which is a potential therapeutic strategy for posterior capsular opacification.

The application of breast blood oxygen functional imaging combined with mammography examination in breast cancer screening / 预防医学

Objective To evaluate the effect of breast blood oxygen functional imaging combined with mammography on breast cancer screening in women aged over 40 years.Methods A total of 10 076 cases of women in our hospital underwent breast blood oxygen functional imaging and mammography X -ray examination.The breast imaging report and data system (BI -RADS)III level of women performed on the biopsy pathology were used as the gold standard.The effect of different inspection methods were compared and analyzed.Results Among 10 076 cases,235 cases were diagnosed as BI -RADS,which was diagnosed by blood oxygen functional imaging system and a molybdenum target X -ray diagnosis of III.Thirteen cases with early breast cancer were diagnosed by needle biopsy.And 222 cases were diagnosed benign lesions.The sensitivity of the blood oxygen functional imaging system was 69.23% (9 /13)and 85.58% (190 /222), respectively.The sensitivity of molybdenum target X -ray was 76.92% (10 /13),and the specificity was 82.88% (184 /222).The sensitivity of combined detection was 100.0% (13 /13)and the specificity was 82.88% (184 /222).The accuracy index of combined molybdenum target X -ray (0.829)was significantly higher than that of single detection (0.548 and 0.598)(U =2.117,2.501,P <0.05).Conclusion Breast blood oxygen functional imaging instrument combined with molybdenum target examination could effectively improve the accuracy of diagnosis in breast cancer screening among women over 40 years.

Changes of brain - derived neurotrophic factor expression in gene modified bone marrow mesenchymal stem cells / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To study the changes of brain - derived neurotrophic factor ( BDNF ) expression in gene modified bone marrow mesenchymal stem cells ( BMSC) . ●METHODS:BMSC were divided into blank control group ( without transfected BMSC ) , negative control group ( empty vector without BDNF gene transfected BMSC) and experimental group ( BDNF gene transfected BMSC) . The expression of BDNF mRNA in BMSC was measured by Realtime PCR, and the expression of BDNF in BMSC was measured by ELlSA. ●RESULTS:The BDNF mRNA expressions of 3, 4, 5, 6, 7 and 8-generation BMSC cells in the experimental group were higher than those in the blank control group and negative control group. The differences were statistically significant (P3: F=491. 788, P ●CONCLUSION:Long-term expression of BDNF in BMSC can be enhanced by genetic engineering.

Effect of light damage on the function of blood-retinal barrier in rats / 国际眼科杂志(Guoji Yanke Zazhi)

Abstract?AIM: To investigate the influence on blood-retina barrier after intense light exposure in rats.?METHODS: The rats were randomly divided into light exposure group and control group. Rats in light exposure group were exposed in white light (10000lux, 12h on-off, continuing 1-14d) .Rats in control group were only exposed in natural light.The eyes of the rats in the two groups were removed when the rats in light exposure group acceptted intense light after 1, 3, 7 and 14d.We observed the change of retinal structure using hematoxylin-eosin ( HE ) staining, and observed the change of retinal ultrastructure using electron microscope.We quantified the change of retinal vascular permeability using laser scanning confocal fluorescence microscope and spectrophotometry after perfusion of Evans-blue, to evaluate the change of blood-retinal barrier.?RESULTS: At 1d after intense light exposure, the retinal ultrastructure of rats changed, such as denaturation of photoreceptor cells and falling of membranous disc outer segment and thinning of the outer nuclear layer thickness, and so on;and the longer the rats exposure to intense light, the more serious change of the retinal ultrastructure were found.At 3d later, photoreceptor cells began apoptosis.At 14d later, the outer nuclear layer became thinner obviously, and the number of cells reduce obviously.At 1d after intense light exposure, EB leaked from the retinal vascular, and at 14d later the leaking of EB was more obvious.?CONCLUSION: The photoreceptor cell of the outer nuclear layer of retina will degenerate and apoptosis, and the outer nuclear layer will be thinner, and the structure and function of blood-retinal barrier will be destroied, if the eyes of rats exposed in intense light.

Simultaneous determination of six terpenoids in Crotonis Crassifolii Radix by HPLC / 中草药

Objective: To establish an HPLC method for simultaneous determination of chettaphanin I, teucvidin, crassifolin B, cyperenoic acid, crassifolin A, and cyperenol in Crotonis Crassifolii Radix. Methods: The separation was performed on a Kromasil 100-5 C18 column (250 mm×4.6 mm, 5 μm) with acetonitrile (A)-0.02% trifluoroacetic acid water (B) as the mobile phase in a gradient elution (0-35 min, 35% A; 35-55 min, 35%-60% A; 55-80 min, 60% A) at a flow rate of 1.0 mL/min. The detective wavelength was set at 210 nm, and the column temperature was set at 25℃. Results: The six terpenoids all have good separating degree and good linearity (r>0.999 7). The sample recoveries of compounds 1-6 were 100.2% (RSD=0.48%), 99.13% (RSD=0.48%), 98.48% (RSD=0.96%), 99.22% (RSD=1.10%), 101.1% (RSD=1.35%), and 102.5% (RSD=0.95%), respectively. Conclusion: The established method is rapid and accurate, and has high repeatability, which could provide the scientific evidence for the quality control of Crotonis Crassifolii Radix.

Comparison of biological behavior of 99Tcm-ciprofloxacin (Infecton) and 99Tcm-HIgG in rabbit models of inflammation / 中华核医学杂志

Objective 99Tcm-ciprofloxacin(Infecton)and 99Tcm-HIgG are both radiopharmaceuticals for inflammation and infectious disease imaging.It was reported that99Tcm-ciprofloxacin (Infecton)Was able to distinguish inflammation from infection.while 99Tcm-HIgG was a nonspecific agent.The study Was designed to compare the in vivo characteristics between 99Tcm-ciprofloxacin(Infecton)and 99Tcm-HIgG in rabbit model of inflammation.Methods Eight rabbits were grouped as inflammation model(the first group).infection model(the second group),concomitant inflammation and infection model(the third group),and control(the fourth group)groups.A total of 185 MBq(0.5 m1)99Tcm-ciprofloxacin(Infecton)Was administered intravenously to each rabbit.a serious dynamic images were acquired till 24 h post-injection.Repeated examination with99Tcm-HIgG was carried out 2 d later.Resuits 99Tcm-ciprofloxacin(Infecton)scan was negative in the inflammation models and controls.and was positive in the infection models.In the third group99Tcmciprofloxacin(Infecton)showed infection focus in the left thigh but negative uptake at inflammation focus in the right thigh.99Tcm-HIgG scan were positive in all models.The optimal image time for99Tcm-ciprofloxacin(Infecton)was 3 h after administration.but positive image could still be observed 24 h later.Conclusion 99Tcm-ciprofloxacin(Infecton)appears to specifically accumulate in the infective lesion.

Comparison of clinical and genetic phenotypes between Chinese and Korean hereditary nonpolyposis colorectal cancer families / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To compare the clinical and genetic features between Chinese and Korean hereditary nonpolyposis colorectal cancer (HNPCC) families.</p><p><b>METHODS</b>Thirty-one Chinese HNPCC families and 63 HNPCC Korean families were involved in this study. The clinical data of the probands and families were collected. Genomic DNAs were prepared from peripheral blood samples of probands for DNA test. PCR and DHPLC were employed to screen the mutations. Sequencing analysis was followed to find out the exact mutation site and feature in samples showing abnormalities in SSCP or DHPLC analysis.</p><p><b>RESULTS</b>In a total, there were 136 malignant neoplasms diagnosed in the 31 Chinese families, about 77.9% of them were colorectal cancer. The mean age of colorectal cancer at diagnosis was (48.6+/- 29.0) years. Gastric cancer was the second most common cancer in these familiesîSeven pathogenic mutations (3 in hMLH1 gene and 4 in hMSH2 gene) were detected in the 31 probands, including 2 missense mutations, 2 nonsense mutations, 2 frameshift mutations and 1 large-fragment deletion. The total mutation rate was 22.6%. In the 63 Korean families, 293 malignant neoplasms were documented, 82.6% of them were diagnosed as colorectal cancer. The mean age of colorectal cancer at diagnosis was (45.9+/- 11.0) years. Gastric cancer was also the most common extracolonic cancer in these Korean families. Nineteen pathogenic mutations (17 in hMLH1 gene and 2 in hMSH2 genes) were detected in the 63 probands, including 12 frameshift mutations, 5 missense mutations, 1 nonsense mutation and 1 base-change at the splicing site. The total mutation rate was 30.2%.</p><p><b>CONCLUSION</b>(1) Chinese and Korean HNPCC families had many similar clinical features, such as early-onset of colorectal cancer, predominance in distal colon and rectum, lower incidence of synchronous or metachronous colorectal cancers as compared with Western countries, and a frequent occurrence of gastric cancer in the families. (2) The total mutation rate of hMLH1 and hMSH2 gene in Chinese and Korean HNPCC families was similar and lower than that reported in Western countries. But the mutation characteristics, such as predominant gene, mutation type and mutation distribution, were different in the two populations.</p>

Hypermethylation of hMLH1 promoter in sporadic colorectal cancer / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To identify CpG island hypermethylation of 5'region of hMLH1 promotor and to explore its relationship to microsatellite instability(MSI)in sporadic colorectal carcinoma.</p><p><b>METHODS</b>Forty-one pairs of tissue specimens (normal and cancer) were collected from 41 patients with colorectal cancer. Hypermethylation of hMLH1 promoter was detected by methylation specific PCR; the relationship between methylation and clinicopathological features was analyzed. Combined with BAT25 and BAT26, the MSI status was detected using an automated fluorescent DNA sequencer.</p><p><b>RESULTS</b>Hypermethylation of hMLH1 promoter was detected in 75.6 % (31/41) of samples. Mean age of unmethylation cases (49.2 y) was significantly younger than that of methylation cases (63.6 y) (P<0.05), but there were no differences between two groups in other clinicopathological features. MSI was detected in 43.9 % samples (18/41); hypermethylation of hMLH1 promoter was detected in 94.4 % (17/18) of MSI(+) samples, which was higher than that in MSI(-) samples (60.9 %,14/23, P<0.05).</p><p><b>CONCLUSION</b>Age-related hypermethylation is generally found in patients with sporadic colorectal cancers, which may cause MSI and might be the mechanism in the development of colorectal cancer of elderly people.</p>

Clinical features and mutation analysis of a poly-(A)8 tract in M3 cholinergic receptor gene in Chinese HNPCC families / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To characterize the clinical features of Chinese HNPCC families and to screen the mutations of a poly-(A)8 tract in M3 cholinergic receptor gene in these families.</p><p><b>METHODS</b>The clinical features of 15 Chinese HNPCC families were characterized. Genomic DNAs from 15 probands were prepared. PCR and direct DNA sequencing analysis were employed to examine the mutations of a poly-(A)8 tract in exon 8 of M3 cholinergic receptor gene.</p><p><b>RESULTS</b>Total 55 cancer patients were found in 15 families including 41 cases of colorectal carcinoma with an average of 2.73 colorectal carcinomas developed per family. Thirty out of forty-one (73%) patients were diagnosed before age of 50 years. Proximal colon was involved in 51% of patients, while anus and rectum were 40 %. Synchronous and metachronous multiple colorectal cancers developed in 5 patients (12%). Two thirds of families belonged to Lynch II syndrome, and total 18 extracolonic malignancies in 14 patients were identified. Gastric carcinoma was the most common extracolonic types. In 15 HNPCC probands, no mutation was detected in the poly-(A)8 tract of exon 8 of M3 cholinergic receptor gene.</p><p><b>CONCLUSION</b>M3 cholinergic receptor gene might have little relation with HNPCC in Chinese population. The criteria for Chinese HNPCC are useful and practical in clinical application.</p>