Objective: To investigate the distribution frequency and molecular mechanism of the rare blood type Lu(a-b-) in Shenzhen, and to compare the polymorphisms of the Lutheran blood group system encoding gene LU and the In (Lu) phenotype-related gene KLF1 among Han Chinese, Indian, and Uyghur populations in Xinjiang. Methods: Serological methods were used to screen the Lu(a-b-) phenotype of blood donors in Shenzhen. Third-generation sequencing was employed to sequence the full-length of the LU and KLF1 genes in Lu (a-b-) phenotype samples as well as the samples from the Han Chinese, Indians, and Uyghur population, followed by analysis of gene haplotypes frequencies. Results: Ten individuals with the Lu(a-b-) phenotype were screened out of 14 367 blood donors in Shenzhen, yielding a frequency of approximately 0.07%. Only 2 cases showed mutations in the coding region of the LU gene, while all individuals showed heterozygous mutations in the coding region of the KLF1 gene. The highest mutation frequencies of the LU and KLF1 genes were observed in the Uyghur population in Xinjiang and the Han Chinese in Shenzhen, respectively. Conclusion: All Lu(a-b-) phenotypes are of the In (Lu) type, and their formation mechanism is mainly related to KLF1 gene mutations. Both the LU and KLF1 genes exhibit significant polymorphism in the Han Chinese, Indians, and Uyghur populations.

Background Gestational weight gain is closely related to maternal and infant health outcomes. Pregnant women are simultaneously exposed to four metals—lithium (Li), vanadium (V), uranium (U), and bismuth (Bi)—through inhalation of fine particulate matter and consumption of contaminated food and water. Existing studies suggest that exposure to these metals may be associated with gestational weight gain. However, no study has yet explored the complex relationships between exposure to mixtures of these four metals and weight gain at different stages of pregnancy. Objective To investigate the associations between mixed exposure to Li, V, U, and Bi in early pregnancy and the average weekly gestational weight gain during both early pregnancy and mid-to-late pregnancy. Methods This prospective study recruited eligible women in early pregnancy from an obstetrics clinic of a tertiary hospital in Jinan, China, between September 2021 and July 2023. Pre-pregnancy weight, current weight (at 11⁺⁰ to 13⁺⁶ weeks of gestation), and spot urine samples (≥5.0 mL) were collected at enrollment. Urinary concentrations of Li, V, Bi, and U were determined using inductively coupled plasma mass spectrometry. Participants were followed up in late pregnancy (≥28 weeks of gestation) to collect information on physical activity via questionnaire; weight measurements at the last antenatal visit (35⁺⁰ to 37⁺⁶ weeks of gestation) were obtained from the hospital information system. After adjusting for covariates, multiple linear regression and generalized additive models were used to assess the associations of individual metals with weekly weight gain in early pregnancy and in mid-to-late pregnancy. Bayesian kernel machine regression (BKMR) and quantile-based g-computation (Qgcomp) were applied to evaluate the joint effects of the metal mixture exposure on weekly weight gain at the two gestational stages. Results A total of 313 pregnant women were included. The geometric means of urinary Li, V, U, and Bi concentrations were 37.07, 0.20, 0.06, and 0.04 μg·L⁻¹, respectively; after creatinine adjustment, the corresponding values were 46.82, 0.25, 0.07, and 0.05 μg·g⁻¹ (Cr). The mean weekly gestational weight gain was (0.19±0.25) kg in early pregnancy and (0.53 ± 0.18) kg in mid-to-late pregnancy. Both multiple linear regression and generalized additive models showed that urinary V concentration was positively associated with average weekly gestational weight gain in early pregnancy, while no significant associations were found for other metals or for gestational weight gain in mid-to-late pregnancy. In the BKMR model with early-pregnancy weight gain as the outcome, V had the strongest association [posterior inclusion probability (PIP)=0.773]. When other metals were fixed at their medians, V showed a positive non-linear association with the outcome. A significant single-metal effect of V and its interaction with Li were observed. Compared with the 50th percentile of the metal mixture, the average weekly weight gain in early pregnancy increased by 0.016 (95%CI: 0.003, 0.029) and 0.018 (95%CI: 0.001, 0.036) at the 60th and 65th percentiles, respectively; conversely, at the 25th percentile, it decreased by 0.026 (95%CI: 0.002, 0.050). Overall, the joint effect of the metal mixture on early- pregnancy weight gain showed an upward trend. In the BKMR model for mid-to-late pregnancy gestational weight gain, all PIPs were<0.5, and no significant single-metal effects, interactions, or joint effects were identified. Qgcomp results confirmed a positive association between the metal mixture and early-pregnancy weight gain (b=0.031, 95%CI: 0.010, 0.051; P<0.01), with V contributing the highest positive weight (0.71). No significant association was found for weight gain in mid-to-late pregnancy (b=0.007, P=0.339). Conclusion Higher levels of co-exposure to the Li, V, Bi, and U metal mixture during early pregnancy may be associated with increased average weekly weight gain in early pregnancy. Among these metals, V exhibits a predominant role and appears to interact with Li. No association is observed between early-pregnancy metal mixture exposure and average weekly gestational weight gain in mid-to-late pregnancy. These findings suggest that monitoring and managing metal exposure during early pregnancy may be crucial for the rational regulation of gestational weight gain.

BACKGROUND:Some research has suggested that regulation of gut microbiota may influence the course of intervertebral disc degeneration.However,the causal relationship of gut microbiota on intervertebral disc degeneration is unknown.OBJECTIVE:To assess the potential causal relationship between gut microbiota and intervertebral disc degeneration using a Mendelian randomization method.METHODS:Genome-wide association analysis summary statistics for 473 gut microbiota and genome-wide association analysis summary data for intervertebral disc degeneration from the R11 of the FinnGen database(46 205 cases of intervertebral disc degeneration and 322 314 controls)from the most recent publicly available publication were applied.Inverse variance weighting,MR-Egger regression,weighted median,weighted modeling,and simple modeling were used to investigate the causal relationship between gut microbiota and intervertebral disc degeneration.Sensitivity analyses were used to test whether the results of Mendelian randomization analyses were reliable.Reverse Mendelian randomization was performed with all gut microbiota as the outcomes for effect analysis and sensitivity analysis.RESULTS AND CONCLUSION:(1)The results of the inverse variance weighting method of the forward Mendelian randomization method showed that the order Trichosporonaceae,the family UBA-6960,the family Anaerobes thermophilus,the family Salmonellaceae,the genus Pseudomonas tufts,the species Gordonella and the species Euclidia showed a positive correlation with intervertebral disc degeneration.The order Spirochaetes,the order Pseudomonas,the family Spirochaetaceae,the genus CAG-776,the genus Helicobacter,the species CAG-448 sp003150135,the species CAG-776 sp000438195,the species Brautella-A sp000285855 and the species Hanson's Brautella showed a negative correlation with intervertebral disc degeneration.(2)The results of reverse Mendelian randomization showed that intervertebral disc degeneration was positively correlated with the genus Bartonella rosea,the genus Geobacillus C,the species Escherichia fumigatus,the species Propionibacterium fumigatus,the species UBA-1777 sp900319835,the species Pseudomonas aeruginosa and the species Bacillus subtilis,while negatively correlated with the species Streptomyces mingoldii,the species Prevotella sp000434975,the species Brault's A sp000285855,the species CAG-194 sp002441865 and the species CAG-590 sp000431135.(3)No heterogeneity or horizontal pleiotropy was found in the two-way sensitivity analysis.(4)The results described above indicate that the causal relationship between gut microbiota and intervertebral disc degeneration based on the Finnish database contributes to the exploration on new biomarkers for the early prediction and treatment of intervertebral disc degeneration in clinical practice.In addition,the establishment of a large database and the integration of medical data from multiple centers can be drawn upon in biomedical research in China to provide a solid foundation for studying the relationship between gut microbiota and intervertebral disc degeneration.We will strengthen communication and cooperation with research teams in other countries to jointly promote the research on the relationship between gut microbiota and diseases and contribute to the development of global medicine.

BACKGROUND:Some research has suggested that regulation of gut microbiota may influence the course of intervertebral disc degeneration.However,the causal relationship of gut microbiota on intervertebral disc degeneration is unknown.OBJECTIVE:To assess the potential causal relationship between gut microbiota and intervertebral disc degeneration using a Mendelian randomization method.METHODS:Genome-wide association analysis summary statistics for 473 gut microbiota and genome-wide association analysis summary data for intervertebral disc degeneration from the R11 of the FinnGen database(46 205 cases of intervertebral disc degeneration and 322 314 controls)from the most recent publicly available publication were applied.Inverse variance weighting,MR-Egger regression,weighted median,weighted modeling,and simple modeling were used to investigate the causal relationship between gut microbiota and intervertebral disc degeneration.Sensitivity analyses were used to test whether the results of Mendelian randomization analyses were reliable.Reverse Mendelian randomization was performed with all gut microbiota as the outcomes for effect analysis and sensitivity analysis.RESULTS AND CONCLUSION:(1)The results of the inverse variance weighting method of the forward Mendelian randomization method showed that the order Trichosporonaceae,the family UBA-6960,the family Anaerobes thermophilus,the family Salmonellaceae,the genus Pseudomonas tufts,the species Gordonella and the species Euclidia showed a positive correlation with intervertebral disc degeneration.The order Spirochaetes,the order Pseudomonas,the family Spirochaetaceae,the genus CAG-776,the genus Helicobacter,the species CAG-448 sp003150135,the species CAG-776 sp000438195,the species Brautella-A sp000285855 and the species Hanson's Brautella showed a negative correlation with intervertebral disc degeneration.(2)The results of reverse Mendelian randomization showed that intervertebral disc degeneration was positively correlated with the genus Bartonella rosea,the genus Geobacillus C,the species Escherichia fumigatus,the species Propionibacterium fumigatus,the species UBA-1777 sp900319835,the species Pseudomonas aeruginosa and the species Bacillus subtilis,while negatively correlated with the species Streptomyces mingoldii,the species Prevotella sp000434975,the species Brault's A sp000285855,the species CAG-194 sp002441865 and the species CAG-590 sp000431135.(3)No heterogeneity or horizontal pleiotropy was found in the two-way sensitivity analysis.(4)The results described above indicate that the causal relationship between gut microbiota and intervertebral disc degeneration based on the Finnish database contributes to the exploration on new biomarkers for the early prediction and treatment of intervertebral disc degeneration in clinical practice.In addition,the establishment of a large database and the integration of medical data from multiple centers can be drawn upon in biomedical research in China to provide a solid foundation for studying the relationship between gut microbiota and intervertebral disc degeneration.We will strengthen communication and cooperation with research teams in other countries to jointly promote the research on the relationship between gut microbiota and diseases and contribute to the development of global medicine.

Parkinson's disease(PD)is a common progressive neurodegenerative disease mainly affecting the motor system.Various genetic factors and cellular mechanisms underlying PD have recently been discovered.Emerging evidence suggests that epigenetic modifications play a very important role in the pathogenesis,prevention,and treatment of PD.Epigenetic modification mediates genetic and environmental interactions mainly through complex interactions of DNA methylation,histone modification,and non-coding RNA,thereby affecting expression in the absence of changes in DNA sequence.In this review,we summarize the epigenetic modification mechanisms involved in the pathogenesis of Parkinson's disease.In this review,we summarize the epigenetic modification mechanisms involved in the pathogenesis of Parkinson's disease.Recent studies have found that traditional Chinese medicine can participate in the regulation of abnormal epigenetic modifications in the treatment of PD.Traditional Chinese medicine benefits from its multi-level and multi-target regulatory effects,and various traditional Chinese medicine monomers,compound prescriptions,and techniques have been evaluated,confirming that this is a promising approach for improving symptoms in PD.This review summarizes the mechanisms by which epigenetic modifications contribute to P D,explores the role of traditional Chinese medicine,and provides new ideas for clinical treatment and drug development in PD through epigenetic intervention.

Hypertensive nephropathy is one of the common chronic kidney diseases in China,the morbidity and mortality are increasing year by year,which seriously endangers the physical and mental health of patients.Traditional Chinese medicine believes that human is an organic whole,the five viscera and six organs are closely related in physiology and pathology,based on the theory of"holistic concept",the application of Chinese medicine in the treatment of hypertensive nephropathy can effectively improve kidney function and reduce the occurrence of adverse reactions.Therefore,based on the theory of"five viscera in one",this paper summarizes the etiology and pathogenesis of hypertensive nephropathy and the treatment of hypertensive nephropathy from the five aspects of liver,heart,spleen,lung and kidney,aiming to provide new ideas for the prevention and treatment of kidney disease by traditional Chinese medicine.

The literature related to luminal instruments published in CNKI,Wanfang and VIP databases from the establish-ment of the databases to September 27th,2024,was analyzed statistically and visually by applying CiteSpace in terms of the number of publications,authors,institutions and keywords.It's pointed out that the number of publications on luminal instru-ments in China was on a rising trend in general,and that the operating room,cleaning,disinfection,sterilization and manage-ment were the current hot spots in the research.A new thought was provided on the management and scientific research of luminal instruments in China.[Chinese Medical Equipment Journal,2025,46(3):69-74]

Objective:To analyze and summarize clinical phenotypic characteristics and genetic variations in patients with intellectual disability and pathogenic variations of the DYNC1H1 gene across 4 generations within a single family. Methods:Retrospective case analysis.Clinical data of a child with epilepsy and intellectual disability and her family members were collected from the Children′s Medical Center, Peking University First Hospital on December 2019.The child was followed up regularly.DNA was extracted from the peripheral blood of the child′s family members.Then whole-exome sequencing and Sanger sequencing were performed to identify the genetic variation type in the proband and her family members.The relationship between genotype and phenotype was further analyzed.Results:A total of 13 patients across 4 generations in the family had intellectual disability, and the proband also had drug-resistant epilepsy.The variation c. 13556C> A (p.A4519E) of the DYNC1H1 gene was confirmed by gene testing in 8 patients (no blood samples were obtained from the remaining patients). Conclusions:DYNC1H1 gene-related intellectual disability in most previously reported cases are caused by novel variations of this gene.In this study, a large family of 13 intellectual disability patients across 4 generations caused by a pathogenic mutation in the DYNC1H1 gene was summarized.The findings make precise genetic counseling possible for this family and provide a basis for further studies on the relationship between the genotype and phenotype of the DYNC1H1 gene.

Parkinson's disease(PD)is a common progressive neurodegenerative disease mainly affecting the motor system.Various genetic factors and cellular mechanisms underlying PD have recently been discovered.Emerging evidence suggests that epigenetic modifications play a very important role in the pathogenesis,prevention,and treatment of PD.Epigenetic modification mediates genetic and environmental interactions mainly through complex interactions of DNA methylation,histone modification,and non-coding RNA,thereby affecting expression in the absence of changes in DNA sequence.In this review,we summarize the epigenetic modification mechanisms involved in the pathogenesis of Parkinson's disease.In this review,we summarize the epigenetic modification mechanisms involved in the pathogenesis of Parkinson's disease.Recent studies have found that traditional Chinese medicine can participate in the regulation of abnormal epigenetic modifications in the treatment of PD.Traditional Chinese medicine benefits from its multi-level and multi-target regulatory effects,and various traditional Chinese medicine monomers,compound prescriptions,and techniques have been evaluated,confirming that this is a promising approach for improving symptoms in PD.This review summarizes the mechanisms by which epigenetic modifications contribute to P D,explores the role of traditional Chinese medicine,and provides new ideas for clinical treatment and drug development in PD through epigenetic intervention.

Objective: To develop and validate a health literacy assessment scale for junior high school students, providing an effective tool for evaluating and monitoring health literacy among Chinese adolescents. Methods: Based on school health education policy documents, a health literacy assessment framework was constructed, comprising five horizontal and four vertical dimensions. From May to June and August to September in 2024, the framework was refined through Delphi expert consultations and focus group discussions, leading to the development of the Health Literacy Assessment Scale for Junior High School Students. In September 2024, a convenience sample of 625 students from three junior high schools in Beijing and Tianjin completed the questionnaire. Item analysis, reliability, and validity tests were conducted to evaluate the scale. Results: The recovery rate for two rounds of expert consultation questionnaires was 100%. The expert authority coefficients ( Cr ) were 0.86 and 0.87 respectively (both >0.70), with Kendall W values of 0.34 and 0.27 ( P <0.05). The focus group discussions followed a rigorous structure, and after multiple rounds of item screening and revision, the version 3.0 of the junior high school students health literacy assessment scale was developed, comprising 57 items. Three items that failed to meet the comprehensive screening criteria were preliminarily removed, and the final scale contained 54 items. The scale demonstrated excellent reliability, with an overall Cronbach s α coefficient of 0.92 and split half reliability of 0.93. Confirmatory factor analysis [ χ 2/df =2.094, root mean square error of approximation ( RMSEA )=0.042, comparative fit index ( CFI )=0.911, Tucker Lewis index ( TLI )=0.907] indicated good model fit indices. Conclusions The preliminary development of the health literacy assessment scale for junior high school students follows a rigorous item screening process with well designed dimensions, demonstrating good reliability and validity, thus serving as an appropriate evaluation tool for adolescent health literacy.