OBJECTIVE: To assess the association between the single nucleotide polymorphisms (SNP) rs174575 and rs2845574 of the fatty acid desaturase 2 (FADS2) gene and gestational diabetes mellitus (GDM). METHODS: A total of 1 514 pregnant women who visited West China Second University Hospital of Sichuan University between January 1, 2013 and December 31, 2021 were enrolled in this study. Among them, 583 were diagnosed with gestational diabetes mellitus (GDM group), and 931 had normal pregnancies (control group). The SNPs rs174575 and rs2845574 of the FADS2 gene were analyzed using Sanger DNA sequencing. Plasma levels of insulin (INS), apolipoprotein A1 (apoA1) and apolipoprotein B (apoB) were measured using enzymatic methods, chemiluminescence and immunoturbidimetry. This study was approved by the Medical Ethics Committee of the West China Second University Hospital of Sichuan University (Ethics No.: 2020-036). RESULTS: The main genotype at the rs174575 C/G and rs2845574 C/T loci were CC in both GDM and control groups. No significant difference was found between the GDM and control groups regarding the genotypic or allelic frequencies of rs174575 and rs2845574 sites (P > 0.05). Among the GDM group, individuals with the GG genotype at the rs174575 site had lower plasma HDL-C levels compared to those with the CC genotype (P < 0.05), and had higher atherogenic indices (AI) compared with the CC and CG genotype (P < 0.05; P < 0.05). Individuals with the TT genotype at the rs2845574 site had higher AI compared with the CT genotype (P < 0.05). Among the control group, individuals with the GG genotype had lower diastolic blood pressure (DBP) compared to those with the CC genotype (P < 0.05). Additional subgroup analysis demonstrated that the rs174575 polymorphism was associated with AI levels in obesity subgroup of GDM, TG levels in non-obese subgroup of control and DBP levels in the obese subgroup of control (P < 0.05; P < 0.05; P < 0.05). CONCLUSION The FADS2 rs174575 and rs2845574 polymorphisms in GDM patients are associated wit HDL-C and AI levels, and the FADS2 rs174575 polymorphisms was also associated with DBP levels in normal pregnant women. The AI and DBP levels have a BMI-dependent effect.
Humans ; Female ; Pregnancy ; Fatty Acid Desaturases/genetics* ; Polymorphism, Single Nucleotide ; Adult ; Diabetes, Gestational/blood* ; Blood Pressure/genetics* ; Lipids/blood* ; Genotype ; Genetic Predisposition to Disease

Facing of mounting resource constraints and rising demands for personalization in medical education,regional anatomy teaching urgently requires transformation.In this paper,we focus on the regional anatomy of the thoracic wall,in order to explore a novel AI-driven teaching paradigm.Anchored in the core principle of"virtual-real integration with cadaveric dissection as the cornerstone,"the paradigm redefines educational objective and constructs an intelligent,closed-loop teaching model integrating students,computers,and instructors.Leveraging the robust support of digital intelligence(e.g.,DeepSeek),this paradigm incorporates interactive method including group collaboration,branching instruction,and gamified assessments.It achieves a comprehensive intelligent transformation of the entire teaching process-from goal setting and plan customization to activity implementation,task completion,outcome exchange,multidimensional evaluation,and reflective iteration.This new paradigm centers on medical students and leverages digital intelligence to activate deep personalized learning potential.It seamlessly integrates fundamental anatomical knowledge with clinical scenarios(e.g.,key anatomy in breast cancer surgery,flap design in breast reconstruction),and significantly enhances clinical decision-making abilities,scientific research and innovative thinking,as well as medical humanistic literacy,paving a new path for intelligent medical education.

Objective To explore the integration value of mobile virtual reality devices in the classroom teaching of human anatomy,and to evaluate their potential impact on the in-depth construction of human anatomy knowledge,the cultivation of spatial cognitive ability,and the transformation of teaching paradigms from the perspectives of cognitive load theory and situated learning.Methods The undergraduate students majoring in clinical medicine in Peking University were selected as the research objects.Among them,students in grade 2019 were the control group,and students in grade 2022 were the experimental group,introducing movable virtual anatomy equipment and other teaching auxiliary method in theory and practice courses.The final exam scores of the two groups of students were compared,and a questionnaire survey was conducted for the experimental group after the course,and the survey result were statistically analyzed.Results The final examination result showed that the average score of the experimental group was 82.47±10.19,and the average score of the control group was 74.82±16.56,which was significantly higher in the experimental group than in the control group,with statistical significance(P＜0.05).The questionnaire survey result showed that compared with traditional classroom teaching,94.62％of students preferred the new auxiliary teaching mode such as VR,96.77％of students believed that VR assisted teaching could achieve the traditional teaching effect or better,95.7％of them think that it improved students' interest in learning human anatomy,and 98.92％thought that it improved students' knowledge of anatomy.Conclusion The application of mobile virtual reality devices in anatomy classroom teaching provides immersive and interactive 3D visualization teaching scenarios,effectively reducing students' cognitive load on abstract and complex anatomical structures,promoting spatial understanding and knowledge internalization,significantly improving teaching effectiveness and self-learning ability,thus changing the traditional anatomy teaching mode and laying a solid foundation for the development of future medical education and the cultivation of medical talents.

Objective:To investigate the relationship between the single nucleotide polymorphisms (SNP) rs174575 and rs2845574 in the fatty acid desaturase 2 ( FADS2) gene and gestational diabetes mellitus (GDM). Methods:A total of 1 514 pregnant women who visited West China Second University Hospital, Sichuan University, between January 1, 2013, and December 31, 2021, were enrolled in this study. Among them, 583 were diagnosed with gestational diabetes mellitus (GDM group), and 931 had normal pregnancies (control group). The SNPs rs174575 and rs2845574 in the FADS2 gene were analyzed using Sanger DNA sequencing. Plasma levels, insulin (INS), apolipoprotein A1 (apoA1) and apolipoprotein B (apoB) levels were measured using enzymatic methods, chemiluminescence and immunoturbidimetry. This study was approved by Medical Ethics Committee of the West China Second University Hospital, Sichuan University (Ethics No. 2020-036). Results:① The main type of genotype at the rs174575 C/G and rs2845574 C/T polymorphic sites were CC in both GDM and control groups. No statistically significant differences were observed between the GDM and control groups regarding the genotype frequencies or allele frequencies of rs174575 and rs2845574 sites ( P>0.05). ② Among the GDM group, individuals with the GG genotype at the rs174575 site had lower plasma HDL-C levels compared to those with the CC genotype ( P<0.05), and had higher atherogenic indices (AI) than CC and CG genotype ( P<0.05; P<0.05). Individuals with the TT genotype at the rs2845574 site had higher AI than CT genotype ( P<0.05). Among the control group, individuals with the GG genotype had lower diastolic blood pressure (DBP) compared to those with the CC genotype ( P<0.05). ③ Additional subgroup analysis demonstrated that the rs174575 polymorphism was associated with AI levels in obesity subgroup of GDM, TG levels in non-obese subgroup of control and DBP levels in obese subgroup of control ( P<0.05; P<0.05; P<0.05). Conclusion:The FADS2 rs174575 and rs2845574 polymorphisms in GDM patients were associated wit HDL-C and AI levels, and the FADS2 rs174575 polymorphisms was also associated with DBP levels in normal pregnant women. The AI and DBP levels have BMI-dependent effect.

Objective:To investigate the relationship between the single nucleotide polymorphisms (SNP) rs174575 and rs2845574 in the fatty acid desaturase 2 ( FADS2) gene and gestational diabetes mellitus (GDM). Methods:A total of 1 514 pregnant women who visited West China Second University Hospital, Sichuan University, between January 1, 2013, and December 31, 2021, were enrolled in this study. Among them, 583 were diagnosed with gestational diabetes mellitus (GDM group), and 931 had normal pregnancies (control group). The SNPs rs174575 and rs2845574 in the FADS2 gene were analyzed using Sanger DNA sequencing. Plasma levels, insulin (INS), apolipoprotein A1 (apoA1) and apolipoprotein B (apoB) levels were measured using enzymatic methods, chemiluminescence and immunoturbidimetry. This study was approved by Medical Ethics Committee of the West China Second University Hospital, Sichuan University (Ethics No. 2020-036). Results:① The main type of genotype at the rs174575 C/G and rs2845574 C/T polymorphic sites were CC in both GDM and control groups. No statistically significant differences were observed between the GDM and control groups regarding the genotype frequencies or allele frequencies of rs174575 and rs2845574 sites ( P>0.05). ② Among the GDM group, individuals with the GG genotype at the rs174575 site had lower plasma HDL-C levels compared to those with the CC genotype ( P<0.05), and had higher atherogenic indices (AI) than CC and CG genotype ( P<0.05; P<0.05). Individuals with the TT genotype at the rs2845574 site had higher AI than CT genotype ( P<0.05). Among the control group, individuals with the GG genotype had lower diastolic blood pressure (DBP) compared to those with the CC genotype ( P<0.05). ③ Additional subgroup analysis demonstrated that the rs174575 polymorphism was associated with AI levels in obesity subgroup of GDM, TG levels in non-obese subgroup of control and DBP levels in obese subgroup of control ( P<0.05; P<0.05; P<0.05). Conclusion:The FADS2 rs174575 and rs2845574 polymorphisms in GDM patients were associated wit HDL-C and AI levels, and the FADS2 rs174575 polymorphisms was also associated with DBP levels in normal pregnant women. The AI and DBP levels have BMI-dependent effect.

Background: Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype–phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes. Methods: In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing. The effects of the variants were evaluated by in-silico programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity. Results: Among the 367 patients with CH, 17 TSHR variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic TSHR variants. In vitro experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with TSHR biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with DUOX2 biallelic variants. Conclusions We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.

Objective:To assess the association of -c.108C>T and c. 192Q>R polymorphisms of paraoxonase 1 ( PON1) gene with preeclampsia (PE) and the influence of genotypes on the metabolic and oxidative stress indexes among Chinese women. Methods:This case-control study has included 334 patients with PE and 1337 healthy pregnant women. The -c.108C>T and c. 192Q>R genotypes were determined by PCR and restriction fragment length polymorphism method. Metabolic and oxidative stress parameters were also analyzed.Results:No statistical difference in the genotypic and allelic frequencies for the -c.108C>T and c. 192Q>R polymorphisms of the PON1 gene was found between the PE patients and the healthy controls ( P>0.05). Nevertheless, the 192Q-108T haplotype of these polymorphisms was associated with an increased risk of PE ( P = 0.007). Total antioxidant capacity(TAC)and atherosderosis index were higher in patients with the -108TT genotype compared with those with a CT genotype ( P < 0.05); whilst total oxidant status was lower in patients with a CT genotype compared with those with a CC genotype ( P = 0.036). Malondialdehyde level was higher in patients with a 192RR genotype compared with those with a QQ genotype ( P = 0.019). TAC level was higher in patients with a RR genotype compared with those with a QR genotype ( P = 0.015). Conclusion:The 192Q-108T haplotype of the PON1 gene is associated with the risk for PE. These polymorphisms may be associated with abnormal lipid metabolism and oxidative stress among Chinese PE patients.

Chlamydia psittaci is a worldwide distributed zoonotic pathogen that infects a variety of birds.In order to char-acterization of the duck originated C.psittaci strains,lung samples were collected from suspected infection ducks and was de-tected by real-time PCR.The positive samples were homogenized in phosphate buffered saline with kanamycin and streptomy-cin,and then inoculated onto L929 cells monolayer.After several sets of passages,chlamydial inclusions of the isolate in cul-tured cells were observed after Giemsa staining or by electron microscope.For species identification,16S rRNA,16-23S IGS gene fragments were sequenced and analyzed.Genotyping of the isolate was performed by comparative analysis of the obtained ompA gene sequence with that of different genotype of C.psittaci strains.A C.psittaci strain was successfully isolated from the lung sample of duck by cell culture and was identified as genotype A.This study expanded our understanding of the host range of genotype A C.psittaci strain,and provided basis for further research on the pathogenicity,transmission,and public health risk of this pathogen.

Objective To investigate the-75 G/A single-nucleotide polymorphism in the promoter region of apolipoprotein A1 gene(apoA1)and its association with gestational diabetes mellitus(GDM)in pregnant women and to provide references for the exploration in the molecular genetic basis of GDM.Methods A total of 626 GDM patients and 1022 normal pregnant women,ie,the controls,were included in the study.The genotyping of apoA1-75 G/A polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP)analysis.Total cholesterol(TC),triglycerides(TG),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),and glucose(Glu)were measured by enzymatic methods.Plasma insulin(INS)was measured by chemiluminescence immunoassay.The protein levels of apoA1 and apoB were measured by the turbidimetric immunoassay.Results Allele frequencies of G and A were 0.718 and 0.282 in the GDM group and 0.713 and 0.287 in the control group,respectively.Distribution of the genotype frequencies was found to be in Hardy-Weinberg equilibrium in both the GDM and control groups.There was no significant difference in the frequencies of alleles G and A and the genotypes of apoA1-75 G/A polymorphism between the GDM and the control group(P>0.05).In the GDM group,the carriers with the genotype AA were associated with significantly higher levels of TC,HDL-C,and apoA1 than those with genotypes GG and GA did(all P<0.05).After the GDM patients were divided into obese and non-obese subgroups,the genotype-related apoA1 variation was observed only in obese patients,while the genotype-related TC and HDL-C variations were evident in non-obese patients(P<0.05).In the control group,carriers of genotypes AA and GA had higher systolic blood pressure(SBP)and HDL-C than the carriers of genotype GG did(all P<0.05).Carriers of genotypes AA had significantly lower Glu levels than carriers of genotypes GG and GA did(P<0.05).The control subjects were further divided into subgroups according to their body mass index(BMI).Analysis of the subgroups showed that AA carriers were associated with higher SBP levels in the obese control women only,while lower Glu levels were evident in both obese and non-obese control women.Conclusion These results suggest that-75 G/A polymorphism in the apoA1 gene is not associated with GDM.However,the genetic variation is closed associated with the plasma apoA1,HDL-C,and TC levels in GDM patients and plasma HDL-C,Glu,and SBP levels in the control subjects.The apoA1 variant-associated lipids and SBP variation is BMI dependent in both groups.

OBJECTIVE: To explore the proliferation inhibitory effect of quinones from Blaps rynchopetera defense secretion on colorectal tumor cell lines. METHODS: Human colorectal cancer cell HT-29, human colorectal adenocarcinoma cell Caco-2 and normal human colon epithelial cell CCD841 were chosen for the evaluation of inhibitory activity of the main quinones of B. rynchopetera defense secretion, including methyl p-benzoquinone (MBQ), ethyl p-benzoquinone (EBQ), and methyl hydroquinone (MHQ), through methyl thiazolyl tetrazolium assay. The tumor-related factors, cell cycles, related gene expressions and protein levels were detected by enzyme-linked immunosorbent assy, flow cytometry, RT-polymerase chain reaction and Western blot, respectively. RESULTS: MBQ, EBQ, and MHQ could significantly inhibit the proliferation of Caco-2, with half maximal inhibitory concentration (IC₅₀) values of 7.04 ± 0.88, 10.92 ± 0.32, 9.35 ± 0.83, HT-29, with IC₅₀ values of 14.90 ± 2.71, 20.50 ± 6.37, 13.90 ± 1.30, and CCD841, with IC₅₀ values of 11.40 ± 0.68, 7.02 ± 0.44 and 7.83 ± 0.05 µg/mL, respectively. Tested quinones can reduce the expression of tumor-related factors tumor necrosis factor α, interleukin (IL)-10, and IL-6 in HT-29 cells, selectively promote apoptosis, and regulate the cell cycle which can reduce the proportion of cells in the G₁ phase and increase the proportion of the S phase. Meanwhile, tested quinones could up-regulate mRNA and protein expression of GSK-3β and APC, while down-regulate that of β-catenin, Frizzled1, c-Myc, and CyclinD1 in the Wnt/β-catenin pathway of HT-29 cells. CONCLUSION Quinones from B. rynchopetera defense secretion could inhibit the proliferation of colorectal tumor cells and reduce the expression of related factors, which would be functioned by regulating cell cycle, selectively promoting apoptosis, and affecting Wnt/β-catenin pathway-related mRNA and protein expressions.
Humans ; beta Catenin/metabolism* ; Caco-2 Cells ; Quinones/pharmacology* ; Glycogen Synthase Kinase 3 beta/metabolism* ; Cell Proliferation ; Colorectal Neoplasms/metabolism* ; Cell Line, Tumor ; Apoptosis ; Benzoquinones/pharmacology* ; RNA, Messenger ; Wnt Signaling Pathway