Objective To study the mutation of STK11 gene in a Chinese family and a sporadic patient with Peutz-Jeghers syndrome (PJS),and to provide a basis for genetic diagnosis and counseling.Methods One sporadic patient and two patients from a family with PJS were collected,all of whom had typical mucosal pigmentation and gastrointestinal polyposis.Blood samples were obtained from the two patients and six unaffected relatives in this family,the sporadic patient,and 100 healthy controls.DNA was extracted,and PCR was performed to amplify nine exons and their adjacent introns in the STK11 gene followed by direct sequencing.The sequencing results were aligned to the published sequence of STK11 gene from Genbank.Results No mutation was found in the STK11 gene of any of the patients,unaffected relatives,or healthy controls.Conclusions Genetic heterogeneity exists in Peutz-Jeghers syndrome,hinting that there may be other causative genes or sites for this entity.

Objective To study the function of atractylodes macrocephala koidz volatile oil for transplanted tumor in animals. Methods The animal model of transplanted tumor-ECA was used. The anti-tumor function of atractylodes macrocephala koidz volatile oil was observed. Results Atractylodes macrocephala koidz volatile oil can suppress ECA when given at 100 mg/kg and 50 mg/kg doses into abdominal cavity. When a larger dose at 150 mg/kg was given, the life-span of mice can extended to 197 %. Conclusion Atractylodes macrocephala koidz volatile oil can suppress tumor effectively.

Objective To observe the lumbosacral plexus nerves by diffusion tensor tractography (DTT) and quantitatively evaluate them by using diffusion tensor imaging (DTI) in healthy volunteers.Methods A total of 60 healthy volunteers (30 males and 30 females) underwent DTI scanning.Mean FA values of the lumbosacral plexus nerves (both sides of lumbar roots L3 to S1,proximal and distal to the lumbar foraminal zone) were quantified.Differences among various segments of lumbar nerve roots were compared with ANOVA test and SNK test.Differences between two sides of the lumbar nerve roots at the same lumbar segment were compared with paired-samples t test.Differences between the proximal and the distal nerve to the the lumbar foraminal zone at the same lumbar segment were compared with paired-samples t test.The lumbosacral plexus nerve was visualized with tractography.Results (1) The lumbosacral plexus nerve was clearly visualized with tractography.(2) Mean FA values of the lumbar nerve roots L3 to S1 were as followings:proximal to the left lumbar foraminal zone 0.202 ± 0.021,0.201 ± 0.026,0.201 ± 0.027,0.191 ±0.016,distal to the left lumbar foraminal zone 0.222 ± 0.034,0.250 ± 0.028,0.203 ± 0.026,0.183 ± 0.020,proximal to the right lumbar foraminal zone 0.200 ± 0.023,0.202 ± 0.023,0.205 ± 0.027,0.191 ±0.017,distal to the right lumbar foraminal zone 0.225 ±0.032,0.247 ±0.027,0.205 ± 0.033,0.183 ±0.021.Mean FA values were significantly different between the proximal nerve to the distal nerve in lumbar nerve roots L3,L4,S1 (t =-9.114-2.366,P ＜ 0.05),but not significantly different in L5 (P ＞ 0.05).Differences were not found between the right and left side nerves at the same lumbar segment (P ＞ 0.05).(3) The whole length of the lumbar roots nerve L3 to S1 can be visualized clearly by using DTT.Conclusions Diffusion tensor imaging and tractography can show and provide quantitative information of human lumbosacral plexus nerves.DTI is a potential tool for the diagnosis of lumbosacral plexus nerve disease.

Objective To evaluate systematically whether or not the treatment of herbs invigorating spleen and removing dampness,blood stasis and toxin with chemotherapy is better than chemotherapy alone for advanced colorectal cancer.Methods The randomized controlled trails (RCT) involving combined treatment of herbs with chemotherapy,published from January 2000 to October 2015,were searched in CBM,CNKI,Wanfang Data,VIP,PubMed,Embase databases.Stata 14.0 software was used to analyze the data.Results 19 RCT containing 941 patients were included in this reta-analysis.Compared with chemotherapy alone,the combined treatment of Chinese herbal medicine and chemotherapy was obviously better in 1-year survival rate (RR =1.28,95 ％ CI 1.14-1.45),2-year survival rate (RR =1.52,95 ％ CI 1.05-2.18),3-year survival rate (RR =2.76,95 ％ CI 1.56-4.88),objective response (RR =1.11,95 ％ CI 1.04-1.19),Karnofsky score (RR =1.46,95 ％ CI 1.27-1.68) and traditional chinese medicine (TCM) symptom score (RR =1.58,95 ％ CI 1.33-1.75).The adverse effect rate was statistically reduced in the combined treatment group:leukopenia (RR =0.59,95 ％ CI 0.40-0.8),nausea and vomiting (RR =0.68,95 ％ CI 0.59-0.79),diarrhea (RR =0.67,95 ％ CI 0.53-0.85),neurotoxicity (RR =0.79,95 ％ CI 0.65-0.96).Conclusion Compared with chemotherapy alone,the treatment of herbs invigorating spleen and removing dampness,blood stasis and toxin combined with chemotherapy for advanced colorectal cancer can significantly increase survival rate and objective response rate,improve the quality of life,and meanwhile decrease the adverse effect rate.

Objective To explore the diagnostic value of comparing enhanced transvaginal ultrasound (E-TVS),none enhanced transvaginal ultrasound (TVS),and transrectal ultrasound (TRS) in preoperative detection of deep infiltrating endometriosis (DIE) in the rectosigmoid by Meta-analysis.Methods The literatures published from January 1990 to June 2016 were searched.The information of literatures were selected and evaluated.The included data was statistically analyzed by Meta-disc 1.4 software.Results Totally 25 literatures were enrolled.The pooled sensitivity,specificity,positive likelihood ratio,negative likelihood ratio,diagnostic odds ratio were 0.92,0.96,16.64,0.09,227.95 for E-TVS,0.83,0.97,16.95,0.17,112.97 for TVS,0.94,0.96,14.43,0.08,208.72 for TRS,respectively.Area under the curve were 0.980 4,0.966 3,0.979 0,respectively.Conclusion Diagnostic value of the three ultrasonography in preoperative detection of DIE in the rectosigmoid are E-TVS,TRS,TVS.E-TVS can be used as the preferred method of ultrasonic diagnosis of DIE in the rectosigmoid.

Adenocarcinoma ; pathology ; Adenomatoid Tumor ; metabolism ; pathology ; surgery ; Adenomyoma ; pathology ; Adult ; Antibodies, Monoclonal, Murine-Derived ; metabolism ; Biomarkers, Tumor ; metabolism ; Calbindin 2 ; metabolism ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Keratins ; metabolism ; Leiomyoma ; pathology ; Lymphatic Vessel Tumors ; metabolism ; pathology ; Middle Aged ; Uterine Neoplasms ; metabolism ; pathology ; surgery ; Young Adult

Carcinoma, Hepatocellular ; genetics ; DNA Methylation ; DNA-Binding Proteins ; genetics ; Histone-Lysine N-Methyltransferase ; Humans ; Liver Neoplasms ; genetics ; Nuclear Proteins ; genetics ; Promoter Regions, Genetic ; genetics ; Transcription Factors ; genetics

Cationic liposome is a greatly promising gene carrier. In this paper, the structure trait of cationic liposome was briefly introduced, the mechanism of cationic liposomes mediated gene delivery and the main influencing factor of transfection efficiency in the transfection process were discussed chiefly.
Cations ; chemistry ; Genetic Therapy ; Genetic Vectors ; genetics ; Liposomes ; chemistry ; Transduction, Genetic ; Transfection

Objective To survey the prevalence rates of adult carotid atherosclerosis in water-sourceoriginated high iodine area in Shandong province in 2008 and discuss the relationship between water-sourceoriginated high iodine and carotid atherosclerosis occurrence. Methods Yuncheng county was chosen as observation area which included Dachenlou, Weigai, Liuyi and Ershilipu villages. Juye county was chosen as control that included Zhangxi, Bihainan, Xiaguan and Qiji villages. Two hundred and ninety-nine participants aged over 40 from water-source-originated high iodine areas and 323 residents aged over 40 from normal iodine areas were investigated.Portable-type B mode color Doppler was performed to examine the carotid artery of all participants. The adult carotid atherosclerosis was diagnosed and graded through the ultrasonograms. Results The prevalence rates of adult carotid atherosclerosis in the 4 water-source-originated high iodine villages of Dachenlou, Weigai, Liuyi and Ershilipu were 47.1% (33/70) ,62.2% (51/82) ,67.5% (52/77) and 58.6% (41/70), respectively and the prevalence rates of adult carotid atherosclerosis in the 4 normal iodine villages of Zhangxi, Bihainan, Xiaguan and Qiji were 40.7%(35/86),40.8% (31/76),38.2% (34/89) and 37.5% (27/72), respectively. The prevalence rates of adult carotid atherosclerosis standardized by age in the 4 high iodine villages and the 4 normal iodine villages were 45.81% ,58.18% ,61.63%,55.34% and 34.66%,36.25%,43.01% ,41.30%, respectively. The prevalence rates were higher in high iodine villages than that in control villages(T = 26, P ＜ 0.05 ). There were 136 people scored "0", 120 people scored "1 -3",43 people scored "4 - 7", and total 299 people. There were 201 people scored "0", 87 people scored "1 - 3", 35 people scored "4 - 7", and total 323 people. The expected prevalence rates and severity of adult carotid atherosclerosis was significantly different between high iodine area and normal iodine area (x2 = 17.54,18.42, all P ＜ 0.01).Conclusion The prevalence rate and severity of adult atherosclerosis in water-source-originatod high iodine area is higher than that in normal iodine area.

OBJECTIVETo analyze the clinical and cytogenetic features of myelodysplastic syndrome(MDS) associated with del(20q).

METHODSThe cytogenetic profiles, clinical manifestations, laboratory data, and transformation in course of disease were analyzed.

RESULTS(1) Of 29 MDS patients with del(20q), eleven (37.9%) had normal karyotype in addition to del(20q) aberration. Among them, nine patients were categorized into refractory anemia(RA)/RA with ringed sideroblasts(RAS) group and two into RA with excess Hasts(RAEB)/RAEB in transformation(RAEB-T) group. The breakpoint in 20q11 was commonly seen in patients with RA/RAS(63.2%), while del(20q12) was predominant in patients with RAEB/RAEB-T(accounting for 70% in all RAEB/RAEB-T patients). It was observed that RAEB/RAEB-T patients had higher frequencies of extra chromosomal aberrations(50%) and complex karyotype(30%) than did the RA/RAS patients (26.3%, 5.3% respectively); (2) Almost all patients revealed prominent pancytopenia, dyserythropoiesis and dysgranulopoiesis and 58.6% patients showed dysmegakaryopoiesis; positive periodic acid schiff staining of nucleated erythrocytes or reduction of neutrophils were found in 62.5% of patients; 81.8% of patients expressed lymphoid antigens; (3) Two cases transformed to acute myeloid leukemia.

CONCLUSIONDel(20q) may be an early and primary cytogenetic event in the development of hematologic malignancies. Pancytopenia and dysplasia of bone marrow cells are prominent in patients with MDS associated with del(20q); lymphoid antigen expression is a common occurrence; more additional chromosomal abnormalities and complex karyotypes appear when the disease becomes worse.

Adolescent ; Adult ; Aged ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; Female ; Humans ; Immunophenotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; immunology