Objective To investigate the effects of dexmedetomidine(0.5,1.0,2.0 μg/kg)combined with ropivacaine ultrasound guided thoracic paravertebral nerve block(TPVB)in patients undergoing thoracoscopic surgery under general anesthesia on the vital signs,stress response and other indexes,and to provide reference for the optimization of anesthesia regimen in the clinic.Methods A total of 99 cases of patients undergoing thoracoscopic surgery under general anesthesia were selected,and the patients were divided into the low,medium,and high-dose groups of 33 cases each according to the method of randomized numerical table.At the end of anesthesia induction,dexmedetomidine 0.5,1.0,and 2.0 μg/kg compounded with 0.375%ropivacaine ultrasound-guided TPVB was administered to the low,medium,and high-dose groups,respectively,and all three groups were observed until 3 d postoperatively.Perioperative indicators,quality of awakening,degree of pain at 2,6,12,and 24 h postoperatively,vital signs before anesthesia(T1),at tracheal extubation(T2),and at 5 min of tracheal extu-bation(T3),and immune function,stress response,and adverse reactions during the observation time were com-pared between the groups.Results Compared with the low-dose group,remifentanil and propofol dosages were lower in the medium-and high-dose groups,and the number of postoperative self-controlled analgesia was lower(P＜0.05).Awakening,tracheal extubation,and recovery room stay were prolonged between the low,medium,and high dose groups(P＜0.05).Scores of visual analog scale(VAS)were progressively lower in the three groups at 2,6,12,and 24 h postoperatively(P＜0.05),and compared with the low-dose group,scores of VAS were lower in the medium and high-dose groups at 2,6,and 12 h postoperatively(P＜0.05).Compared with T1,heart rate(HR),mean arterial pressure(MAP)were higher in all three groups at T2,T3,and HR,MAP at T2,T3 were higher between the low,medium,and high dose groups(P＜0.05);compared with T2,HR,MAP were lower in all three groups at T3(P＜0.05).Compared with the preoperative period,levels of whole blood CD8+,serum cortisol(Cor),C-reactive protein(CRP),norepinephrine(NE),and epinephrine(E)were increased in the three groups at 3 d postoperatively,and the above indexes were elevated between the low,medium,and high dosage groups at 3 d postoperatively(P＜0.05);levels of whole blood CD3+,CD4+,CD4+/CD8+were decreased in the three groups at 3 d postoperatively,and the above indexes were elevated between the low,medium,and high dosage groups at 3 d postoperatively(P＜0.05).There was no statistically significant difference in the safety com-parison among the three groups(P＞0.05).Conclusions 1.0 μg/kg dexmedetomidine combined with ropivacaine ultrasound guided TPVB had certain advantages in reducing the degree of pain of general anesthesia thoracoscopic surgery patients,reducing the dosage of remifentanil and propofol and the number of postoperative self-controlled analgesia,while 0.5 μg/kg dexmedetomidine combined with ropivacaine ultrasound guided TPVB had certain advan-tages in improving patients'vital signs,reducing immunosuppression,stress reaction and promoting post-anesthesia awakening.Clinical anesthesia protocols could be rationally selected according to the actual situation of patients.

Objective To investigate the effects of dexmedetomidine(0.5,1.0,2.0 μg/kg)combined with ropivacaine ultrasound guided thoracic paravertebral nerve block(TPVB)in patients undergoing thoracoscopic surgery under general anesthesia on the vital signs,stress response and other indexes,and to provide reference for the optimization of anesthesia regimen in the clinic.Methods A total of 99 cases of patients undergoing thoracoscopic surgery under general anesthesia were selected,and the patients were divided into the low,medium,and high-dose groups of 33 cases each according to the method of randomized numerical table.At the end of anesthesia induction,dexmedetomidine 0.5,1.0,and 2.0 μg/kg compounded with 0.375%ropivacaine ultrasound-guided TPVB was administered to the low,medium,and high-dose groups,respectively,and all three groups were observed until 3 d postoperatively.Perioperative indicators,quality of awakening,degree of pain at 2,6,12,and 24 h postoperatively,vital signs before anesthesia(T1),at tracheal extubation(T2),and at 5 min of tracheal extu-bation(T3),and immune function,stress response,and adverse reactions during the observation time were com-pared between the groups.Results Compared with the low-dose group,remifentanil and propofol dosages were lower in the medium-and high-dose groups,and the number of postoperative self-controlled analgesia was lower(P＜0.05).Awakening,tracheal extubation,and recovery room stay were prolonged between the low,medium,and high dose groups(P＜0.05).Scores of visual analog scale(VAS)were progressively lower in the three groups at 2,6,12,and 24 h postoperatively(P＜0.05),and compared with the low-dose group,scores of VAS were lower in the medium and high-dose groups at 2,6,and 12 h postoperatively(P＜0.05).Compared with T1,heart rate(HR),mean arterial pressure(MAP)were higher in all three groups at T2,T3,and HR,MAP at T2,T3 were higher between the low,medium,and high dose groups(P＜0.05);compared with T2,HR,MAP were lower in all three groups at T3(P＜0.05).Compared with the preoperative period,levels of whole blood CD8+,serum cortisol(Cor),C-reactive protein(CRP),norepinephrine(NE),and epinephrine(E)were increased in the three groups at 3 d postoperatively,and the above indexes were elevated between the low,medium,and high dosage groups at 3 d postoperatively(P＜0.05);levels of whole blood CD3+,CD4+,CD4+/CD8+were decreased in the three groups at 3 d postoperatively,and the above indexes were elevated between the low,medium,and high dosage groups at 3 d postoperatively(P＜0.05).There was no statistically significant difference in the safety com-parison among the three groups(P＞0.05).Conclusions 1.0 μg/kg dexmedetomidine combined with ropivacaine ultrasound guided TPVB had certain advantages in reducing the degree of pain of general anesthesia thoracoscopic surgery patients,reducing the dosage of remifentanil and propofol and the number of postoperative self-controlled analgesia,while 0.5 μg/kg dexmedetomidine combined with ropivacaine ultrasound guided TPVB had certain advan-tages in improving patients'vital signs,reducing immunosuppression,stress reaction and promoting post-anesthesia awakening.Clinical anesthesia protocols could be rationally selected according to the actual situation of patients.

OBJECTIVE: To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions. METHODS: Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis. Genetic counseling and prenatal diagnosis were provided for 3 women carrying the premutations. RESULTS: The carrier rate of CGG repeats of the FMR1 gene was 1 in 178 for the intermediate type and 1 in 772 for the premutation types. The highest frequency allele of CGG was 29 repeats, which accounted for 49.29%, followed by 30 repeats (28.56%) and 36 repeats (8.83%). In case 1, the fetus had a karyotype of 45,X, in addition with premutation type of CGG expansion of the FMR1 gene. Following genetic counseling, the couple chose to terminate the pregnancy through induced labor. The numbers of CGG repeats were respectively 70/- and 29/30 for the husband and wife. In case 2, amniocentesis was performed at 20 weeks of gestation. The number of CGG repeats of the FMR1 gene was 29/-. No abnormality was found in the fetal karyotype and chromosomal copy number variations. The couple chose to continue with the pregnancy. Case 3 refused prenatal diagnosis after genetic counseling and gave birth to a girl at full term, who had a birth weight of 2440 g and no obvious abnormality found during follow-up. CONCLUSION Pregnant women should be screened for FMR1 gene mutations during early and middle pregnancy, and those with high-risk CGG expansions should undergo prenatal diagnosis, genetic counseling and family study.
DNA Copy Number Variations ; Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Genetic Counseling ; Humans ; Mutation ; Pregnancy ; Trinucleotide Repeat Expansion ; Trinucleotide Repeats

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with congenital cataracts. METHODS: Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect genetic variants. Candidate variants were verified by familial co-segregation analysis and Sanger sequencing. Bioinformatics analysis was carried out to predict the function of mutant genes. RESULTS: By comparing variants identified among affected and unaffected individuals, a heterozygous variant, c.110 G>C (p.R37P), was identified in exon 2 of the CRYGC gene among all patients, which also matched the criteria for potential disease-causing mutations. The result was confirmed by Sanger sequencing. CONCLUSION The c.110G>C variant of the CRYGC gene probably underlay the congenital cataracts in this pedigree.
Asian Continental Ancestry Group ; Cataract ; congenital ; genetics ; China ; Heterozygote ; Humans ; Mutation ; Pedigree ; gamma-Crystallins ; genetics

OBJECTIVETo screen for mutations of deafness-related genes among ethic Chinese women of child-bearing age.

METHODSIn 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip.

RESULTSTwenty women (6.17%) have carried mutations. These included 11 (3.40%) carrying a GJB2 gene mutation, 7 (2.16%) carrying a SLC26A4 gene mutation, 1 (0.31%) simultaneously carrying GJB3 and GJB2 gene mutations, and 1 (0.31%) carrying a mtDNA 12s rRNA gene mutation.

CONCLUSIONWomen of child-bearing age have a high rate for carrying mutations of common deafness-related genes, among which 235delC in GJB2 was most common. Prenatal screening of couples with normal hearing is an effective way to prevent birth of affected children.

Adult ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Female ; Humans ; Mutation

Objective:To evaluate the efficacy and adverse reaction caused by Capecitabine compared with S-1 as maintenance treat-ments for patients with advanced gastric cancer (AGC) after first-line induction chemotherapy. Methods:A total of 130 AGC patients who did not suffer disease progression after first-line chemotherapies, including XELOX (four to six cycles), SOX (four to six cycles), and mFOLFOX6 regimen (six to eight cycles), were randomized into three groups. The Capecitabine group (Cap) received maintenance che-motherapy with Capecitabine (1 000 mg/m2 twice daily for 14 days, 21 days/cycle), while the S-1 group (S1) received S-1 (40, 50, or 60 mg according to the body surface area and orally administered twice a day for 14 days, 21 days/cycle). The control group was consid-ered as the observation group. Patients with maintenance treatments received drugs until disease progression or observation of intol-erant toxicity. Results:A total of 44, 33, and 53 patients received XELOX, SOX, and mFOLFOX6 regimens, respectively. The overall DCR was 63.1%. Among the 82 patients, 35, 28, and 19 belonged to the Cap, S1, and observation groups, respectively. The comparison be-tween the efficacy of treatments in the Cap and S1 groups did not show statistically significant differences (P=0.678). The median time of progression was 8.5 months in the Cap group and 9.0 months in the S1 group (P>0.05). Both groups showed better responses than the observation group, which demonstrated a median progression of 6.0 months (P<0.001). The median overall survivals were 14.5, 15.0, and 14.0 months in the Cap, S-1, and observation groups, respectively (P=0.188). The most common adverse effects observed among the patients with maintenance treatments included myelo-suppression, gastrointestinal reaction, fatigue, hand-foot syndrome, and stomatitis. No death occurred in relation to the therapy. Conclusion:The effectiveness of Capecitabine and S-1 as maintenance chemotherapies in AGC patients after the first-line induction chemotherapy are similar, and both can prolong the time of disease pro-gression with low toxicity.

Objective To investigate the reverse effects of zoledronic acid on the malignant phenotype of Bel-7402 human hepatocarcinoma cells.Methods The AFP secretary amount of the cells was determind with RIA,and thespecfic activities of tyrosine-?-ketoglutarate transaminase(TAT),ornithine carbamyl transferase(OCT) and alkaline phospharase(ALP),?-glutamgl transpeptidase(?-GT) and aldolase(ALD) were assayed by enzymological methods.Results Treating with 0.05?g/ml zoledronic acid,the proliferation of the cells,the secretary amount of AFP,and the specific activities of ?-GT and ALD significantly decreased(P