Objective To explore the effect of dexmedetomidine on blood coagulation following radical gastrectomy.Methods ASA Ⅰ or Ⅱ patients aged 51-70 years weighing 53-75 kg scheduled for radical gastrectomy were randomly allocated to two groups:dexmedetomidine group (group D)and control group (group C).Dexmedetomidine 0.5 μg/kg was intravenously infused over 10 minutes before anesthesia induction,followed by a rate of 0.5 μg·kg-1 ·h-1 until peritoneal closure in group D and volume-matched normal saline was administrated in group C.Radical gastrectomy was performed under total intravenous anesthesia with propofol and remffentanil.A series of warming measures were implemented and artificial colloid and heparin flushing fluid were not used.Postoperative patient-controlled intravenous analgesia was performed to maintain visual analogue scale≤3.The blood samples were collected for TEG and standard coagulation monitoring before dexmedetomidine and saline administration and 3 h after surgery.Results The temperature and hematocrit in the postoperative period were significantly less than the preoperative period in two groups (P＜0.01).In both groups,the activity of plasma antithrombin Ⅲ was significantly decreased and the concentration of plasma FDP was significantly increased in the postoperative period when compared with the preoperative period (P ＜0.01).In group D,the R time was significantly shortened and MA value was significantly increased in the postoperative period when compared with the preoperative period (P＜0.05) and there were no significant differences in the K time and α angle between the preoperative and postoperative period.In group C,the R and K time were significantly shortened and the value for MA and α angle were significantly increased in the postoperative period compared with the preoperative period (P＜0.01).The platelet counts,PT,APTT,and plasma fibrinogen concentration were comparable between the preoperative and postoperative period in both groups.The requirements of propofol and remifentanil in group D were significantly less than group C (P＜0.05).In the preoperative period,the plasma antithrombin Ⅲ activity,FDP concentration,and the values for all TEG variables were similar in both groups.In the postoperative period,the value for MA and the concentration of plasma FDP in group D were less than that in group C and the value for R and the activity of plasma AT Ⅲ in group D were more than group C (P＜0.05 or P＜0.01) and there were no significant differences in the K time and α angle in both groups.There were no significant differences in the temperature,hematocrit,platelet counts,PT,APTT,and plasma fibrinogen concentration in the preoperative and postoperative periods between the two study groups.Conclusion Adjunctive dexmedetomidine in general anesthesia could inhibit the decrease of R time and raise of the value for MA,inhibit the decrease of plasma an tithrombin Ⅲ activity and raise of FDP concentration,which indicated that dexmedetomidine can improve blood coagulation state after radical gastrectomy.

OBJECTIVE: To determine the frequencies of deafness gene mutations among patients with non-syndromic hearing loss (NSHL) from northern Jiangsu province. METHODS: A total of 117 patients with NSHL were enrolled. The coding region of GJB2 gene, IVS7-2A>G and 2168A>G mutations of SLC26A4 gene, and 1555A>G and 1494C>T mutations of mitochondrial DNA 12S rRNA were subjected to Sanger sequencing. Patients in whom no mutation was detected were further tested by targeted gene capture and high-throughput sequencing. RESULTS: Among the 117 patients, 86 (73.50%) were found to carry mutations. GJB2 gene mutations were found in 61 patients (52.14%), including 22 (18.80%) with homozygous mutations and 39 (33.33%) with heterozygous mutations. SLC26A4 gene mutations were found in 19 patients (16.24%), including 4 (3.42%) with homozygous mutations and 15 with heterozygous mutations (14.53%). Mitochondrial 12S rRNA gene mutation was found in 6 patients (5.13%). Targeted gene capture and high-throughput sequencing of 8 patients identified 4 further cases, including 1 with RDX gene 129_130del and 76_79del compound heterozygous mutations, 1 with OTOF gene 1274G>C homozygous mutation, 1 with SLC26A4 gene 919-2A>G and IVS16-6G>A compound heterozygous mutation, and 1 with SLC26A4 gene 919-2A>G and A1673T compound heterozygous mutation. CONCLUSION The frequency of mutation among patients with NSHL from north Jiangsu was 73.50%, and GJB2 gene was most commonly mutated.
China ; Connexins ; DNA Mutational Analysis ; DNA, Mitochondrial ; Hearing Loss ; genetics ; Humans ; Membrane Proteins ; Mutation ; Sulfate Transporters

Objective:To investigate the clinical, imaging and genetic features of patients with global developmental delay combined with epilepsy and striatal degeneration caused by POLR3A gene mutations.Methods:A total of three patients from two families with non-consanguineous marriages admitted to the Department of Pediatric Neurology of Xiangya Hospital of Central South University in 2020 were examined in detail. Peripheral blood DNA was extracted, and whole-exome sequencing was performed on the patients, combined with Sanger sequencing for verification. The mutation and protein function predictor softwares were applied to analyze the mutation sites.Results:All three patients presented with global developmental delay, seizures, dystonia. Head magnetic resonance imaging of all patients suggested basal ganglia atrophy and striatal degeneration. All had compound heterozygous mutations of c.1980 G>C; c.1771-6 C>G and c.2044C>T; c.1771-7 C>G in POLR3A gene as indicated by whole-exome sequencing. Sanger sequencing validation confirmed that the compound heterozygous mutations were originated from the parents of probands from the two families, respectively. Bioinformatic analysis suggested pathogenic features of the mutations.Conclusions:Compound heterozygous mutations in POLR3A gene , including a splice site mutation result in global developmental delay combined with epilepsy, striatal degeneration. Clinicians should promote the awareness of POLR3 related spectrum disorders, thus make early recognition and diagnosis.