Objective To investigate the clinical value of observing the differences of GSK‐3βprotein expression and activity lev‐el in the peripheral blood mononuclear cells between type 2 diabetes mellitus patients and healthy people .Methods Using ELISA to detect the GSK‐3βprotein expression and activity levels of people who contained 30 patients with type 2 diabetes whose blood glu‐cose were not controlled (test group 1) ,30 cases of patients with type 2 diabetes whose blood glucose were controlled (test group 2) and 30 cases of healthy human and all the data were analyzed .Results The GSK‐3βprotein content of Type 2 diabetes mellitus group was higher than the control group(P<0 .05) ,the activity level of GSK‐3βin test group 1 was higher than the control group and test group(P<0 .05) .The GSK‐3β protein content of test group 2 was higher than the control group(P< 0 .05) .The male GSK‐3βactivity level in the test group 1 was higher than the men′s in the control group(P<0 .05) .Conclusion The GSK‐3βprotein content has a high expression in the type 2 diabetes mellitus patients .After drug treatment ,the patients ,who have controlled the blood glu‐cose effectively ,still showes high expression of the GSK‐3βprotein content ,but the activity levels showes a significant decline .In male pa‐tients with type 2 diabetes blood sugar in the control group of GSK‐3βshowes significantly higher activity level .

{L-End}Objective To establish a method for the simultaneous determination of dimethyltin (DMT), trimethyltin (TMT), diethyltin (DET), and triethyltin (TET) in human whole blood using high performance liquid chromatography-inductively coupled plasma-mass spectrometry (ICP-MS). {L-End}Methods The 1.0 mL of blood was added with 4.0 mL 65% aqueous solution (containing 6% acetic acid), extracted and separated by C₄ column (150 mm×3 mm×3 μm) using a mobile phase of methanol and 4% acetic acid aqueous solution (containing 0.25 mmol/L tropolone) at a volume ratio of 35∶65, and detected by ICP-MS. {L-End}Results The linear range of DMT, TMT, DET, and TET was 30.60-550.80, 29.00-522.00, 46.10-829.80, and 34.05-612.90 μg/L, respectively. All correlation coefficients were 0.999. The detection limit of DMT, TMT, DET and TET was 21.40, 20.30, 32.27 and 23.80 μg/L, respectively. The recovery rate was 81.9%-104.9%. The within-run and between-run relative standard deviation was 1.6%-6.9% and 0.1%-10.0%, respectively. The samples can be stored at -20 ℃ and 4 ℃ for at least three days. {L-End}Conclusion This method can be used for trace analysis of DMT, TMT, DET, and TET in whole blood.

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands. METHODS: All affected individuals in this pedigrees were male and had deceased during childhood, with no biological specimen left. Based on their typical neurological dysfunction and tendency for self-mutilation, the diagnosis of LNS was suspected. Sanger sequencing was carried out to detect potential variant of the HPRT1 gene among female members from the pedigree. Following the identification of the pathogenic variant, prenatal diagnosis was provided for a high-risk fetus. RESULTS: The proband's mother and three other females were found to harbor heterozygous c.500_501delGGinsC (p.Arg167fs*23) variant of the HPRT1 gene, which was unreported previously. Prenatal diagnosis showed that the fetus was a male and had inherited the same pathogenic variant. CONCLUSION The c.500_501delGGinsC variant of the HPRT1 gene probably underlay the LNS in this pedigree. Above finding has provided a basis for prenatal diagnosis and genetic counseling for this pedigree.
Male ; Female ; Humans ; Pregnancy ; Lesch-Nyhan Syndrome/genetics* ; Pedigree ; Hypoxanthine Phosphoribosyltransferase/genetics* ; Prenatal Diagnosis ; China ; Mutation

Objective: To investigate the specificity of endogenous metabolic profile in plasma of patients with occupational acute methyl acetate poisoning using non-targeted metabolomics. Methods: A total of six patients with occupational acute methyl acetate poisoning were selected as the poisoning group, while 10 healthy workers without occupational exposure history of chemical hazards in the same industry were selected as the control group using the judgment sampling method. Metabolites in patient plasma of the two groups were detected using ultra-high performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry, and non-targeted metabolomics analysis was performed. Principal component analysis and partial least squares discriminant analysis were used to identify differential metabolites and analyze their metabolic pathways. Results: There were significant differences in metabolite profiles in patient plasma between poisoning group and control group. A total of 195 differentially expressed metabolites were screened in plasma of patients in poisoning group, including 119 upregulated and 76 downregulated metabolites. Lipid substances (lipids and lipid-like molecules) accounted for the highest proportion (21.5%). The differential metabolites of poisoning group were related to folate biosynthesis, amino acid metabolism, pyrimidine metabolism, sphingolipid biosynthesis and other metabolic pathways in plasma compared with the control group (all P<0.05). Conclusion: Occupational acute methyl acetate poisoning affects metabolism of the body. The folic acid biosynthesis, amino acid and lipid metabolism and other pathways may be involved in the occurrence and development of poisoning.

OBJECTIVE: To evaluate the bacteriostatic effect of ε-polylysine( ε-PL) on four common putrefactive bacteria including Staphylococcus aureus,Enterococcus faecalis,Pseudomonas aeruginosa,and E. coli and its effect on urine lead level. METHODS: Broth dilution method was used for the determination of the minimum inhibitory concentration( MIC) ofε-PL on the four kinds of putrefactive bacteria; the inhibitory effects of ε-PL with final mass concentration of 40. 000 mg / L on the urine sample were observed; graphite furnace atomic absorption spectrometry was used for determining the lead level in the 40. 000 mg / L( mass concentration) ε-PL solution and the urine lead level in normal healthy groups; the bacteriostatic effects of ε-PL and nitric acid were compared. RESULTS: The MIC of ε-PL on Staphylococcus aureus,Enterococcus faecalis,Pseudomonas aeruginosa,and E. coli was 40. 000 mg / L. There was no bacterial growth in the urine sample with40. 000 mg / L( mass concentration) ε-PL when urine was kept at room temperature for 24 hours to 15 days. The lead level was < 2. 0 μg / L in the 40. 000 mg / L( mass concentration) ε-PL solution. When the ε-PL with final mass concentration of 40. 000 mg / L and the nitric acid with a volume fraction of 1. 0% were respectively used as the antiseptics,the descending rates of the lead levels in the urine samples were similar,and after the urine sample was preserved for 15 days,the descending rates of the urine lead were both smaller than 10. 0% after be stored for 15 days. CONCLUSION: ε-PL can substitute nitric acid as a new natural preservative for preservation of samples for urine lead determination.

Objective    To investigate the safety of endoscopic thoracic sympathicotomy in the treatment of primary hyperhidrosis based on ambulatory surgery mode. Methods    Retrospective analysis was performed on the clinical data of 158 patients with primary hyperhidrosis who received endoscopic thoracic sympathicotomy in the Affiliated Hospital of Zunyi Medical University from January 2019 to March 2021. There were 68 (43.2%) males and 90 (56.8%) females with an average age of 14-33 (20.5±3.1) years. The basic information of the patients, operation time, intraoperative blood loss, postoperative pain score, hospitalization expenses and postoperative complications were observed and recorded. Results    All surgeries were successfully completed and the patients were discharged as planned. The operation time was 41.8±13.9 min, the intraoperative blood loss was 10.5±7.3 mL, the postoperative anesthesia recovery time was 15.0±5.9 min, and the pain score was 3.0±0.9 points. The total length of hospitalization was 1.6±1.0 days. The total postoperative expenses were 9 471.7±1 698.9 yuan. Pneumothorax occurred after the operation in 3 patients. Telephone follow-up on the 30th day after the operation showed no recurrence of sweaty hands, pneumothorax or rapid heart rate, and no serious complications or death related to the day operation within 30 days after the operation. Conclusion    Endoscopic thoracic sympathicotomy based on ambulatory surgery mode is safe and effective in the treatment of primary hyperhidrosis.