OBJECTIVE: To analyze the distribution characteristics of glucose-6-phosphate-dehydrogenase (G6PD) mutations and their enzyme activity in newborns patients with G6PD deficiency in Guilin region. METHODS: From July 2022 to July 2024, umbilical cord blood samples from 4 554 newborns in Guilin were analyzed for G6PD mutations using fluorescence PCR melting curve analysis. Enzyme activity was detected in 4 467 cases using the rate assay. RESULTS: Among 4 467 newborns who underwent G6PD activity testing, 162 newborns (3.63%) were identified as G6PD-deficient, including 142 males (6.04%) and 20 females (0.94%), the prevalence of G6PD deficiency was significantly higher in males than in females (P < 0.001). Genetic analysis of 4 554 newborns detected G6PD mutations in 410 cases (9%), including 171 males (7.13%) and 239 females (11.09%), with a significantly higher mutation detection rate in females than in males (P < 0.001). A total of nine single mutations and four compound heterozygous mutations were identified. The most common mutations were c.1388G>A (33.66%), c.1376G>T (23.66%) and c.95A>G (16.34%). Among newborns who underwent both enzyme activity and genetic mutation testing, males with G6PD mutations had significantly lower enzyme activity than that of females with G6PD mutations(P < 0.001). Specifically, among newborns carrying the mutations c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T or c.871G>A, males consistently exhibited lower enzymatic activity than females with the same mutations (P < 0.001). Furthermore, in male G6PD-deficient newborns, the enzyme activity levels in those carrying c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T, or c.871G>A were lower than those in both the control group and the c.519C>T group (P < 0.05). CONCLUSION This study provides a comprehensive profile of G6PD deficiency incidence and mutation spectrum in the Guilin region. By analyzing enzyme activity and genetic mutation results, this study provides insights into potential intervention strategies and personalized management approaches for the prevention and treatment of neonatal G6PD deficiency in the region.
Humans ; Infant, Newborn ; Glucosephosphate Dehydrogenase Deficiency/epidemiology* ; Glucosephosphate Dehydrogenase/genetics* ; Female ; Male ; Mutation ; China/epidemiology*

Objective To investigate the protective effect of total saponins of Panax japonicus(TSPJ)against CCl4-induced acute liver injury(ALI)in rats and explore the underlying pharmacological mechanisms.Methods Male SD rat models of CCl4-induced ALI were given intraperitoneal injections of distilled water,100 mg/kg biphenyl bisabololol,or 50,100,and 200 mg/kg TSPJ during modeling(n=8).Liver functions(AST,ALT,TBil and ALP)of the rats were assessed and liver pathologies were observed with HE staining.Immunohistochemistry was used to detect the expressions of PI3K/Akt/NF-κB signaling pathway molecules in liver tissue;ELISA was used to determine the levels of T-SOD,GSH-Px,and MDA.Western blotting was performed to detect the expression levels of PI3K-Akt and SIRT6-NF-κB pathways in the liver tissue.Results Network pharmacological analysis indicated that the key pathways including PI3K/Akt mediated the therapeutic effect of TSPJ on ALI.In the rat models of ALI,treatments with biphenyl bisabololol and TSPJ significantly ameliorated CCl4-induced increase of serum levels AST,ALT,ALP,TBil and MDA and decrease of T-SOD and GSH-Px levels(all P<0.01).The rat models of ALI showed significantly increased expression of p-NF-κB(P<0.01),decreased expressions of PI3K,p-Akt and SIRT6 proteins,and elevated expression levels of p-NF-κB,TNF-α and IL-6 proteins in the liver,which were all significantly improved in the treatment groups(P<0.05 or 0.01).Conclusion TSPJ can effectively alleviate CCl4-induced ALI in rats by suppressing inflammatory responses and oxidative stress in the liver viaregulating the PI3K/Akt and SIRT6/NF-κB pathways.

Objective To investigate the protective effect of total saponins of Panax japonicus(TSPJ)against CCl4-induced acute liver injury(ALI)in rats and explore the underlying pharmacological mechanisms.Methods Male SD rat models of CCl4-induced ALI were given intraperitoneal injections of distilled water,100 mg/kg biphenyl bisabololol,or 50,100,and 200 mg/kg TSPJ during modeling(n=8).Liver functions(AST,ALT,TBil and ALP)of the rats were assessed and liver pathologies were observed with HE staining.Immunohistochemistry was used to detect the expressions of PI3K/Akt/NF-κB signaling pathway molecules in liver tissue;ELISA was used to determine the levels of T-SOD,GSH-Px,and MDA.Western blotting was performed to detect the expression levels of PI3K-Akt and SIRT6-NF-κB pathways in the liver tissue.Results Network pharmacological analysis indicated that the key pathways including PI3K/Akt mediated the therapeutic effect of TSPJ on ALI.In the rat models of ALI,treatments with biphenyl bisabololol and TSPJ significantly ameliorated CCl4-induced increase of serum levels AST,ALT,ALP,TBil and MDA and decrease of T-SOD and GSH-Px levels(all P<0.01).The rat models of ALI showed significantly increased expression of p-NF-κB(P<0.01),decreased expressions of PI3K,p-Akt and SIRT6 proteins,and elevated expression levels of p-NF-κB,TNF-α and IL-6 proteins in the liver,which were all significantly improved in the treatment groups(P<0.05 or 0.01).Conclusion TSPJ can effectively alleviate CCl4-induced ALI in rats by suppressing inflammatory responses and oxidative stress in the liver viaregulating the PI3K/Akt and SIRT6/NF-κB pathways.

Objective To explore the effect of personality characteristics on the facial esthetic satisfaction of edentulous patients,in order to provide reference for improving esthetic satisfaction after complete denture restoration.Methods Twenty-two edentulous sub-jects were randomly selected.Before complete denture treatment,the emotional stability of patients was assessed by Eysenck personality questionnaire N scale score(EPQ-N).Before and three months after treatment,patients completed the orofacial esthetic questionnaire,and 3D stereophotogrammetry was performed to evaluate the changes in facial appearance.In addition,multiple linear regression model was established by using N scale score,changes in facial appearance and facial esthetic satisfaction score.Results After complete denture treatment,the difference in the ratio of the middle and lower parts of the face between patients and the normal group was re-duced by(3.85±2.63)%,and the difference of the nasolabial angle between patients and the normal group was reduced by(6.66°±5.39°).The multiple linear regression model showed that N scale score and changes of the differencein the facial proportion between edentulous subjects and normal population were influencing factors of patients'esthetic satisfaction on the facial appearance,and the N scale score and changes of the difference inthe nasolabial anglebetween patients and normal population were influencing factors of the patients'aesthetic satisfaction on the facial profile.Moreover,the effect of two independent variables(N scale score and facial soft tissue change)on the aesthetic satisfaction of facial appearance and facial profile was statistically significant(P＜0.001).Furthermore,when the N score increased,the patients'aesthetic satisfaction on the facial appearance and facial profile decreased(B＜0).Conclusion Personality can affect the aesthetic satisfaction of edentulous patients.Consequently,we should take reasonable measures for patients with different personality in the process of complete denture restoration,so as to achieve the goal of improving patients'aesthetic satisfaction.

Objective To investigate the effect of leflunomide(LEF)on the expression of associated autophagy genes in synoviocytes of rheumatoid arthritis(RA)by regulating HIF-1α signal pathway.Methods Three genera-tions of RA synovial cells were divided into blank control group,LEF group and Tripterygium wilfordii polyglyco-sides group.The blank control group was added with the same volume of DMEM culture medium.The drug group was treated with LEF(concentration 0.2 mg/ml)and Tripterygium wilfordii polyglycosides(concentration 0.03 mg/ml),the proliferation and apoptosis of synovial cells were detected by flow cytometry,the expression of IL-1 β,TNF-α,ANGPTL-4 and VEGF was detected by ELISA,the expression of HIF-1α mRNA was detected by qRT-PCR,and the expression of HIF-1 α,Beclin-1 and BNIP3 protein was detected by Western blot.Results Com-pared with Tripterygium wilfordii polyglycosides group,the expression of IL-1 α,TNF-α,ANGPTL-4 and VEGF in synovial supernatant of LEF group decreased;compared with the blank control group,the expression of HIF-1αmRNA in synovial cells of LEF group and Tripterygium wilfordii polyglycosides group decreased,and the effect of LEF group was the most obvious;compared with the blank control group,the protein expressions of HIF-1α,Bec-lin-1 and BNIP3 in synovial cells of LEF group and Tripterygium wilfordii polyglycosides group decreased,and the effect of LEF group was the most obvious.Conclusion LEF can inhibit the expression of inflammatory factors in RA synovial cells,inhibit HIF-1α signaling pathway,inhibit the expression of autophagy-related genes Beclin-1 and BNIP3,and improve the pathological state of synovitis.

Objective:To analyze the screening test results of people infected with human immunodeficiency virus (HIV) in the window period confirmed to be "negative" by Western blotting, with a view to finding a way to identify people infected with HIV during the window period as soon as possible.Methods:In the serum (plasma) samples of HIV-positive people screened by the fourth-generation chemiluminescent immunoassay in medical institutions at all levels in Pudong New District, Shanghai from 2014 to 2021, a total of 100 people (200 samples) were confirmed as "negative" and the fourth-generation enzyme-linked immunosorbent assay was screened positive. According to the follow-up results, it was divided into the early infection group (24 cases) and the uninfected group (76 people), and the fourth-generation rapid diagnostic test (RDT) was performed. The compliance rates of positive results of screening and follow-up were compared, and the epidemiological data of early HIV infections were analyzed. The chi-square test was used for statistical analysis.Results:Of the 200 samples, 48(24.00%) were early infected. A total of 106 samples antigens and (or) antibodies were positive by the fourth-generation RDT screening, and the compliance rate with the follow-up results was 45.28%(48/106), of which those of the fourth-generation RDT screening antigen positive and follow-up results were 100.00%(36/36), which was higher than the antibody positive results (24.68%(19/77)). The difference was statistically significant ( χ2=57.49, P<0.001). Of the 24 cases of early HIV infections, 19(79.2%) had acute symptoms. Only one out of six people≥50 years old had asked about the partner about his HIV status before engaging high-risk sex, and 13 out of 18 people <50 years old had asked the partners about their HIV status or to detect HIV before engaging high-risk sex. The difference was statistically significant ( χ2=5.71, P=0.017). Out of the six people ≥50 years old, only one actively tested HIV, and 12 out of 18 people <50 years old actively tested HIV, and the difference was statistically significant ( χ2=4.53, P=0.033). Conclusions:The Western blotting confirmed "negative" samples may be false negative. The comprehensive evaluation which combined with the fourth-generation screening test could help to screen out HIV window infection. In addition, the publicity, education and monitoring of high-risk population need to be further strengthened.

As artificial intelligence technology rapidly advances, its deployment within the medical sector presents substantial ethical challenges. Consequently, it becomes crucial to create a standardized, transparent, and secure framework for processing medical data. This includes setting the ethical boundaries for medical artificial intelligence and safeguarding both patient rights and data integrity. This consensus governs every facet of medical data handling through artificial intelligence, encompassing data gathering, processing, storage, transmission, utilization, and sharing. Its purpose is to ensure the management of medical data adheres to ethical standards and legal requirements, while safeguarding patient privacy and data security. Concurrently, the principles of compliance with the law, patient privacy respect, patient interest protection, and safety and reliability are underscored. Key issues such as informed consent, data usage, intellectual property protection, conflict of interest, and benefit sharing are examined in depth. The enactment of this expert consensus is intended to foster the profound integration and sustainable advancement of artificial intelligence within the medical domain, while simultaneously ensuring that artificial intelligence adheres strictly to the relevant ethical norms and legal frameworks during the processing of medical data.
Artificial Intelligence/legislation & jurisprudence* ; Humans ; Consensus ; Computer Security/standards* ; Confidentiality/ethics* ; Informed Consent/ethics*

Although microsurgical vasoepididymostomy (MVE) is an effective treatment for epididymal obstructive azoospermia, some patients may experience delayed patency or suboptimal semen parameters after patency. However, research into patency time, semen quality postpatency, and associated influencing factors remains limited. This study aimed to address these issues by evaluating 181 patients who underwent at least one-sided MVE employing asingle-armed longitudinal intussusception vasoepididymostomy technique, with a follow-up period of over 12 months for 150 patients. The overall patency rate was 75.3%, with 86.0% of patients achieving patency within 6 months following MVE. Unexpectedly, factors such as age, history of epididymitis, duration of surgery, side of anastomosis, sperm motility in epididymal fluid, and the site of anastomosis showed no correlation with patency time. Nonetheless, our univariate and multivariate linear regression analysis indicated that only the site of anastomosis was positively correlated with and could independently predict postoperative total motile sperm count. Therefore, the site of anastomosis might serve as a predictor for optimal postoperative semen quality following the MVE procedure.
Male ; Humans ; Epididymis/surgery* ; Semen Analysis ; Azoospermia/surgery* ; Microsurgery/methods* ; Adult ; Anastomosis, Surgical/methods* ; Vas Deferens/surgery* ; Sperm Motility ; Sperm Count ; Middle Aged ; Vasovasostomy/methods*

Objective:To analyze the impact of intrauterine infusion of autologous peripheral blood mononuclear cells (PBMCs) and enriched platelet plasma (PRP) on pregnancy outcomes in patients with recurrent implantation failure (RIF).Methods:A total of 96 patients with repeated implantation failures who underwent frozen embryo cycles at Hunan Provincial Maternal and Child Health Care Hospital from March 2021 to June 2023 were selected and randomly divided into a control group (19 cases), PBMCs group (31 cases), and PRP group (46 cases). The control group did not receive uterine cavity infusion treatment; Intrauterine perfusion of PBMCs in the PBMCs group; The uterine cavity of the PRP group was infused with PRP. We compared the general situation, endometrial thickness on the day of conversion, endometrial thickness on the day of transplantation, embryo implantation rate, and clinical pregnancy rate among three groups.Results:There was no statistically significant difference in age, body mass index (BMI), years of infertility, menstrual cycle, serum basal follicle stimulating hormone (FSH), basal estradiol (E 2), number of transfer cycles, number of transferred embryos, and number of high-quality embryos among the three groups (all P>0.05). There was no statistically significant difference in endometrial thickness on the conversion day among the control group, PRP group, and PBMCs group (all P>0.05). The endometrial thickness on the day of transplantation in the PRP group was greater than that in the control group and PBMCs group (all P<0.05), and there was no statistically significant difference in endometrial thickness on the day of transplantation between the control group and PBMCs group (all P>0.05). The embryo implantation rate and clinical pregnancy rate of the PRP group and PBMCs group were higher than those of the control group, and the difference was statistically significant (all P<0.05). There was no statistically significant difference in embryo implantation rate and clinical pregnancy rate between the PRP group and the PBMCs group (all P>0.05). The patients did not experience any adverse reactions such as infection, abdominal pain, or vaginal bleeding during intrauterine infusion therapy. Conclusions:Infusing autologous PBMCs or PRP into the uterine cavity before re embryo transfer in RIF patients can significantly improve embryo implantation rate and clinical pregnancy rate, and can improve assisted pregnancy outcomes; Intrauterine infusion of autologous PRP has no significant advantage over PBMCs in improving clinical pregnancy outcomes in patients with RIF; But it is more beneficial for improving the thickness of the endometrium.

Objective:To study the learning curve of percutaneous patent foramen ovale (PFO) occlusion guided solely by transthoracic echocardiography (TTE), as well as the success rate and safety of the learning curve.Methods:To retrospectively analyze these patients with indications for PFO occlusion admitted in our department from April 2021 to April 2022, and obtained 100 samples the author's initial cases guided solely by TTE, including 25 men and 75 women, with a mean age of (48.22±10.44) years old.Analyze preoperative baseline data: gender, age, height, weight, body mass index, the tunnel length and size of the PFO measured by transesophageal echocardiography, the grade of contrast-transcranial doppler test, combined atrial septal aneurysm, etc.Operation time, success rate, and complications were analyzed in all patients.Results:With the accumulation of cases, the operation time gradually shortened, accumulated to about 50 cases, the operation time has significantly shortened ( P<0.05), and the learning curve was leveled off after 50 cases ( P<0.05), there was statistical difference.The comparison of the success rate and complication of cases within the learning curve and those after completing the learning curve was no statistical significance( P>0.05). Conclusion:The learning curve of percutaneousc closure of patent foramen ovale guided solely by TTE is long, requiring about 50 cases to complete the learning curve. The success rate and safety of the learning curve are high. This procedure is worth popularizing.