Objective To investigate the significances of karyotyping analysis on umbilical cord vein blood lymphocytes in the diagnosis of abnormal karyotypes in middle to late period of pregnant fetus.Methods A volume (0.5 ～ 1 ml) of umbilical cord vein blood was extracted from pregnant women in third trimester pregnancy with prenatal detection indications,and collected in sterilized anticoagulant tube.Lymphocytes were cultured and collected for karyotyping analysis after fixed and dropped on slides.Data were analyzed statistically.Results Lymphocytes were cultured successfully in 1 211 cases out of total 1 213 cases collected.Totally 142 abnormal karyotypes were found,which includes 81 cases (detection rate 6.68 ％) of non-heteromorphic abnormal chromosomes and 61 cases (detection rate 5.03％) of heteromorphic chromosomes.Among these abnormal karyotypes,50 cases (accounting for 35.21％ in total abnormal cases) of aneuploidy include 4 cases of chimerical karyotype.Structural abnormalities were found in 31 cases (accounting for 21.83％ in total abnormal cases) samples including 11 cases of translocations,17 cases of inversion and 3 cases of deletion.Conclusions Based on our findings,karyotyping analysis on umbilical cord vein blood lymphocytes could be an effective method for detect abnormal karyotypes in middle to late period of pregnant fetus and played an important role in prenatal diagnosis.

BACKGROUND:Stroke is the leading cause of death and long-term disability. This study was undertaken to investigate the factors influencing daily activities of patients with cerebral infarction so as to take interventional measures earlier to improve their daily activities. METHODS:A total of 149 patients with first-episode cerebral infarction were recruited into this prospective study. They were admitted to the Encephalopathy Center, Department of Neurology, the First Affiliated Hospital of Wenzhou Medical College in Zhejiang Province from August 2008 to December 2008. The baseline characteristics of the patients and cerebral infarction risk factors on the first day of admission were recorded. White blood cell (WBC) count, plasma glucose (PG), and many others of laboratory targets were col ected in the next morning. Barthel index (BI) was calculated at 2 weeks and 3 months respectively after onset of the disease at the outpatient clinic or by telephone cal . Lung infection, urinary tract infection and atrial fibrillation if any were recorded on admission. The National Institute of Health Stroke Scale (NIHSS) scores and the GCS scores were recorded within 24 hours on and after admission, at the second week, and at the third month after the onset of cerebral infarction respectively. RESULTS:The factors of BI at 2 weeks and 3 months after onset were the initial PG level, WBC count and initial NIHSS scores. Besides, urinary tract infection on admission was also the factor for BI at 3 months. CONCLUSION:Active measures should be taken to control these factors to improve the daily activities of patients with cerebral infarction.

OBJECTIVETo study the epidemiological features of tic disorders (TD) among schoolchildren in Wenzhou area.

METHODSStratified cluster sampling was carried out to investigate TD in 9742 schoolchildren aged 7 to 16 years old in Wenzhou.

RESULTSThe average prevalence rate of TD among school-age children was 104/10 000 (166/10 000 for males, 29/10 000 for females). There was a significantly higher prevalence rate for males than that for females (chi(2) = 43.96, P < 0.001, prevalence ratio = 5.7, prevalence ratio 95% CI: 3.20 - 10.30). The prevalence rates of clinical subtypes in males was significantly higher than that of females while pupils was significantly higher than that in high school students (chi(2) = 11.33, P < 0.01, prevalence ratio = 2.2, prevalence ratio 95% CI: 1.37 - 3.43). Prevalence rate of transient tic disorders (TTD), chronic motor vocal tic disorder (CMVTD), tourette syndrome (TS) were 34/10 000, 27/10 000 and 43/10 000 respectively with the highest among 9-10 years old group. The mean onset age of TD was 8.5 +/- 2.8 years. The peak of onset was among 6-10 year olds. The rate of delayed diagnosis of the disorders was 69.3% and the median in delayed diagnosis was 1.0 year.

CONCLUSIONTD is a common disease with high rate of misdiagnoses among schoolchildren in Wenzhou area. Physicians and population should be trained to identify the syndromes and to practice correct diagnosis and effective treatment as early as possible.

Adolescent ; Child ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Humans ; Male ; Prevalence ; Sex Factors ; Tic Disorders ; epidemiology ; prevention & control ; Tourette Syndrome ; epidemiology ; prevention & control

OBJECTIVETo study the prevalence and distribution of Tourette syndrome (TS).

METHODSNine thousand, seven hundred and forty-two children and juveniles aged 7 - 16 years in Wenzhou were studied, using cluster random sampling method.

RESULTSThe prevalence of TS among school-age children was estimated to be 0.43% (0.74% for males and 0.07% for females). The prevalence of male children and juveniles was higher than that of female children and juveniles (chi(2) = 25.09, P < 0.001, prevalence ratio = 10.95, prevalence ratio 95% CI: 3.38 - 35.46). The highest prevalence of TS was between 9 - 10 years old. The mean age at onset of TS was 7.7 +/- 2.7 years, with 45.2% of them among 6 - 7 year olds. The rate of delayed diagnosis and rates of misdiagnosis and misclassification of the syndromes were 78.6%, 42.9% and 23.8%, respectively.

CONCLUSIONTourette syndrome had been a common disease of children and juveniles in Wenzhou area. The disease was correlated with age and sex, often misdiagnosed and misclassified. Physicians and as well as general publics should be trained to identify the cases.

Adolescent ; Age Factors ; Child ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Humans ; Male ; Prevalence ; Sex Factors ; Tourette Syndrome ; diagnosis ; epidemiology

OBJECTIVETo investigate the effects and mechanisms of Curcumol beta-cyclodextrin Compound (CbetaC) on the proliferation and apoptosis of esophageal carcinoma cell line TE-1.

METHODSThe CbetaC was prepared by saturated solution and confirmed by infrared absorption spectroscopy. The effects of CbetaC (at 25, 50, 100 mg/L) on the proliferation of human esophageal carcinoma cell line TE-1 in vitro was analyzed by MTT assay. The cell cycles and apoptosis were detected by flow cytometer. The relative expression of survivin mRNA was detected by real-time fluorescent quantitative PCR and calculated by the 2(-deltaCt) method. The protein expression of survivin was measured by Western blot.

RESULTSCompared with the control group, results of MTT showed that CbetaC at each dose significantly inhibited the proliferation of TE-1 cells in a dose-dependent manner (P < 0.05). The results of flow cytometry showed that CbetaC resulted in the cell cycle arrest at G0/G1 and G2/M phase, and promoted the cell apoptosis. Besides, when compared with the control group, the protein and mRNA expressions of survivin obviously decreased in each CbetaC group (P < 0.05).

CONCLUSIONSCbetaC could inhibit the proliferation of esophageal carcinoma cell TE-1 and promote the apoptosis. Its inhibition on the survivin expression was correlated with its inhibition on the malignant phenotypes of esophageal carcinoma cells.

Apoptosis ; drug effects ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Esophageal Neoplasms ; pathology ; Humans ; Sesquiterpenes ; pharmacology ; beta-Cyclodextrins ; pharmacology

Background: and Purpose Mutations in the FIG4 gene have been linked to amyotrophic lateral sclerosis (ALS) type 11 in Caucasian populations. The purpose of this study was to identify FIG4 variants in a cohort of 15 familial ALS (FALS) indexes and 275 sporadic ALS (SALS) patients of Han Chinese origin. Methods: All 23 exons of FIG4 were sequenced using targeted next-generation sequencing.An extensive literature review was performed to detect genotype-phenotype associations of FIG4 mutations. Results: No FIG4 variants were identified in the FALS patients. One novel heterozygous missense variant (c.352G>T [p.D118Y]) and one novel heterozygous nonsense variant (c.2158G>T [p.E720X]) in FIG4 were identified in two SALS patients. The p.E720X variant is interpreted as likely pathogenic while the p.D118Y variant is a variant of uncertain significance. The patient carrying the p.E720X mutation developed lower-limb-onset slowly progressive ALS, and survived for 11.5 years. The patient harboring the FIG4 p.D118Y variant also presented with progressive ALS, with the score on the ALS Functional Rating Scale–Revised (ALSFRS-R) decreasing by 0.4 per month. The rate of decrease in the ALSFRS-R scores from symptom onset to diagnosis seemed to be lower in the patients carrying FIG4 variants than the no-FIG4-mutation ALS patients in this study. Conclusions Our findings suggest that ALS patients carrying FIG4 mutations are not common in the Chinese population and are more likely to exhibit slow progression.

Objective:To investigate the efficacy of intravenous infusion of tranexamic acid(TXA)on perioperative blood loss in geriatric patients with hip fracture.Methods:In this retrospective study, 54 out of 95 patients with hip fracture aged from 65 years to 100 years, treated at the Department of Trauma and Osteology, West China Hospital of Sichuan University from June 2020 to June 2021 were finally enrolled.Their clinical data were collected.All patients underwent closed reduction PFNA surgery.They were divided into three groups: (1)Control group(n=18): intravenous infusion of normal saline at 30 min before surgery; (2)Single dose group(n=18): TXA(25 mg/kg)was intravenously injected at 30min before surgery; (3)multiple dose group(n=18): 25 mg/kg of TXA was intravenously injected at 30 min before surgery and 15 mg/kg injected again at 3 h and 6 h after surgery.Total blood loss and the incidence of postoperative deep venous thrombosis among 3 group patients were compared.Results:There were no statistically significant differences in gender, age, preoperative platelets, preoperative activated partial thrombin time and preoperative prothrombin time among control group, single dose group and multiple dose group(all P>0.05). Perioperative blood loss was estimated to be 620(330, 1080)ml, 380(270, 490)ml and 520(190, 750)ml in the control group, single dose group and multiple dose group, respectively, with statistical significance( H=8.666, P<0.05). Total blood loss in single dose group was less than in both control( P<0.05, with statistical significance)and in multiple groups( P>0.05, without statistical significance), and total blood loss in multiple dose group was lower than in control( P>0.05, without statistical significance), and higher than in single dose group( P>0.05, without statistical significance). Color ultrasonography was performed on the 1 st and 7 th day after surgery in 3 groups, and no deep venous thrombosis or pulmonary embolism was found in all groups. Conclusions:Intravenous infusion of TXA at half an hour before surgery can effectively reduce the total peri-operative blood loss without increasing the risk of thrombosis.A multiple preoperative intravenous drip of TXA should be cautious as compared with a single preoperative intravenous drip of TXA.

Objective To observe the effect of cobalt chloride precondi-tioning on the expression of stromal cell derived factor ( SDF -1 ) and CXC family chemokine receptor 4 ( CXCR4) protein in rats with cerebral ischemia .Methods The 45 SD rats were randomly divided into sham group with 15 rats, model group with 15 rats, and test group with 15 rats.For model group and test group , cerebral ischemia model was estab-lished with suture emboli method.The rats in test group before modeling 2 d, 1 d were given intraperitoneal injection of cobalt chloride ( 30 mg· kg -1 ).Western blotting was used to detect the expression of SDF -1, CXCR4 protein.Apoptosis rate of rat brain cells in each group was tested by Terminal deoxynucleotidyl transferase -mediated dUTP-biotin nick end labeling assay ( TUNEL ).And after 2 days, calculate brain tissue necrosis area of the rats in model group and test group by staining with triphenyl tetrazolium chloride ( TTC ).Results Compared with sham group ( SDF-1 , CXCR4 protein is very low ) , the expression of SDF-1, CXCR4 proteins in the test group and model group increased at each time point ( P<0.05 ) .That was suggested that the expression of CXCR4 and SDF-1 could be up-regulated by cobalt chloride.At time of 2 d after model established , brain cell apoptosis rate in test group was significantly lower than that in model group [ (9.31 ±0.79 )%vs (18.99 ±1.13 )%, P<0.05 ].The brain infarct area in test group was significantly lower than that in model group ( P<0.05 ).Conclusion Chromium chloride can increase the expression of SDF -1, CXCR4 proteins, reduce the brain cell apoptosis rate , and narrow the area of necrosis of cerebral ischemia , which has a protec-tive effect for the ischemic brain tissue.

Gastric carcinoma is a heterogeneous malignant disease involving genetic factors.To identify predictive markers for gastric cancer treatment in Chinese patients,we evaluated the association between polymorphisms of the gene encoding cytochrome P450 2A6 (CYP2A6) and outcomes of S-1 plus oxaliplatin (SOX) chemotherapy treatment.Clinical data on 60 consecutive gastric cancer patients receiving SOX regimen were collected prospectively.We sequenced all exons of CYP2A6 and a total of 22 different polymorphisms were detected in the present study.Comprehensive analyses of these genetic polymorphisms were performed to determine their association with both safety and efficacy of SOX regimen.Our results showed that polymorphisms of CYP2A6 were associated with the safety and efficacy of SOX treatment.Among them,missense mutations CYP2A6 rs60823196 and rs138978736 could be possible risk factors (P ＜ 0.05) for severe diarrhea induced by SOX,whereas CYP2A6 rs138978736 could be a conceivable predictor for overall survival of patients treated with SOX adjuvant chemotherapy.Further large-scale randomized prospective studies are warranted to confirm these findings.

OBJECTIVETo explore etiologic fraction (EF) and interaction of serum hepatitis B surface antigen (HBsAg) carriage and other risk factors for primary hepatocellular carcinoma (PHC) in Wenzhou, Zhejiang, China.

METHODS1:1 matched case-control study was carried out in Wenzhou, with 180 cases of PHC and 180 controls. EF and interactions of serum positive HBsAg [HBsAg(+)] and other risk factors for PHC were analyzed by Mantel-Haenszel stratified method and conditional multiple logistic regression.

RESULTSSerum HBsAg(+), poor economic status during the past five years, preferring intake of pickled vegetables, history of PHC in their first-degree relatives, and negative life events all were risk factors for PHC, with EFs of 0.728, 0.245, 0.224, 0.084, and 0.234, respectively. There existed interactions of HBsAg(+) with other risk factors, including poor economic status during the past five years, preferring intake of pickled vegetables, history of PHC in their first-degree relatives, and negative life events, with etiologic fractions attributable to interaction [EF (A x B)] of 0.770, 0.630, 0.848, and 0.627, and indices of interaction of 0.789, 0.638, 0.852, and 0.634, respectively.

CONCLUSIONSMain risk factor for PHC in Wenzhou, Zhejiang, China could include HBsAg(+), poor economic status during the past five years, preferring intake of pickled vegetables, history of PHC in their first-degree relatives, and negative life events. HBsAg(+) plus any of the following factors, such as poor economic status during the past five years, preferring intake of pickled vegetables, history of PHC in their first-degree relatives, and negative life events, could increase the risk of PHC.

Adult ; Aged ; Aged, 80 and over ; Carcinoma, Hepatocellular ; etiology ; Female ; Hepatitis B Surface Antigens ; blood ; Humans ; Liver Neoplasms ; etiology ; Logistic Models ; Male ; Middle Aged