OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of five children with Lamb-Shaffer syndrome (LAMSHF). METHODS: Five children with LAMSHF diagnosed at the Department of Pediatrics, the First Medical Center of Chinese PLA General Hospital from April 2021 to December 2024 were selected as study subjects. Clinical data of the children was collected. Genomic DNA was extracted from peripheral blood samples of the children and their parents. Whole exome sequencing (WES) was carried out to screen for variants. This study was approved by the Medical Ethics Committee of the Chinese PLA General Hospital (Ethics No.: S2025-411-01). RESULTS: All five children had presented with global developmental delay. Among them, two had manifestations of autism spectrum disorder, two had abnormal electroencephalogram findings, four had abnormal MRI results, and two had ocular abnormalities. WES has detected five novel variants in the SOX5 gene. Among these, c.1771G>C (p.Gly591Arg) was unreported previously. Sanger sequencing confirmed that none of the parents had carried the same variants, suggesting that they were all de novo variants. According to the guidelines from the American College of Medical Genetics and Genomics (ACMG), two nonsense variants and one missense variant were classified as pathogenic, whilst two missense variants were classified as likely pathogenic. CONCLUSION This study has clarified the correlation between the clinical phenotypes of five children with LAMSHF and variants of the SOX5 gene, which expanded the mutational spectrum of the SOX5 gene and provided a basis for the clinical diagnosis and genetic counseling.
Humans ; Male ; Female ; Phenotype ; Child, Preschool ; Child ; SOXD Transcription Factors/genetics* ; Exome Sequencing ; Mutation ; Infant

The advent of new media technologies has fundamentally transformed professional ethics development in public hospitals,offering unprecedented opportunities through their real-time communication capabilities,interactive features,and ex-tensive reach.These technological advancements have remarkably improved medical ethics education outcomes,diversified public oversight mechanisms,and enhanced public sentiment management.Concurrently,they have introduced complex challenges,in-cluding information inaccuracy and professional ethics dilution,necessitating robust responses from healthcare institutions in digit-al infrastructure development and public opinion management.This article provides a comprehensive and in-depth research per-spective on the construction of professional ethics in public hospitals in the new era through a combination of theoretical analysis and practical exploration.To address these issues,this article proposes practical paths such as building an intelligent public opin-ion supervision system,modernizing traditional medical ethics culture,establishing an evaluation system for medical ethics that integrates new media technology,and innovating clean governance warning education.The study highlights the critical role of public participation,recommending the development of an open and transparent interactive mechanism through new media plat-forms.This approach aims to foster a comprehensive,multi-level ecosystem for the construction of professional ethics,offering in-sights into improving doctor-patient relationships and enhancing medical service quality,while also contributing to the high-quality development of the healthcare sector.In the future,we should further explore the deep integration of new media technology and the construction of professional ethics to build a more systematic and intelligent management system to meet the development needs of the digital age.

The advent of new media technologies has fundamentally transformed professional ethics development in public hospitals,offering unprecedented opportunities through their real-time communication capabilities,interactive features,and ex-tensive reach.These technological advancements have remarkably improved medical ethics education outcomes,diversified public oversight mechanisms,and enhanced public sentiment management.Concurrently,they have introduced complex challenges,in-cluding information inaccuracy and professional ethics dilution,necessitating robust responses from healthcare institutions in digit-al infrastructure development and public opinion management.This article provides a comprehensive and in-depth research per-spective on the construction of professional ethics in public hospitals in the new era through a combination of theoretical analysis and practical exploration.To address these issues,this article proposes practical paths such as building an intelligent public opin-ion supervision system,modernizing traditional medical ethics culture,establishing an evaluation system for medical ethics that integrates new media technology,and innovating clean governance warning education.The study highlights the critical role of public participation,recommending the development of an open and transparent interactive mechanism through new media plat-forms.This approach aims to foster a comprehensive,multi-level ecosystem for the construction of professional ethics,offering in-sights into improving doctor-patient relationships and enhancing medical service quality,while also contributing to the high-quality development of the healthcare sector.In the future,we should further explore the deep integration of new media technology and the construction of professional ethics to build a more systematic and intelligent management system to meet the development needs of the digital age.

OBJECTIVE: Therapeutic angiogenesis has become a promising approach for treating ischemic heart disease (IHD). The present study aims to investigate the effects of Qishen Granule (QSG) on angiogenesis in myocardial ischemia (MI) and the potential mechanism. METHODS: In vivo study was conducted on rat model of myocardial infarction. QSG was performed daily at a dose of 2.352 g/kg for four weeks. Cardiac function was assessed by echocardiogram and pro-angiogenic effects were evaluated by Laser Doppler and CD31 expression. Oxygen-glucose deprivation (OGD) was applied in cultured human umbilical vein endothelial cells (HUVECs). Cell viability, wound healing and tube formation assay were used to test functions of HUVECs. ELISA and Western blots were used to assess protein expressions of bone morphogenetic protein 2-delta-like 4-notch homolog 1 (BMP2-Dll4-Notch1) signaling pathway. RESULTS: The results showed that QSG improved heart function, cardiac blood flow and microvessel density in myocardial ischemic rats. In vitro, QSG protected HUVECs by promoting the cell viability and tube formation. QSG upregulated bone morphogenetic protein-2 (BMP2) and downregulated delta-like 4 (Dll4) and notch homolog 1 (Notch1) expressions both in rats and HUVECs. CONCLUSION QSG protected against MI by promoting angiogenesis through BMP2-Dll4-Notch1 pathway. BMP2 might be a promising therapeutic target for IHD.

OBJECTIVES: To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations. METHODS: Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction. RESULTS: Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10^-41 and 1-7.64×10^-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China. CONCLUSIONS The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans ; China/ethnology* ; Ethnicity/genetics* ; Forensic Genetics/methods* ; Genetics, Population ; Genotype ; Haplotypes ; Phylogeny ; East Asian People/genetics*

Objective:To analyze the mediating role of maladaptive cognition between family relationships and internet gaming disorder (IGD) in adolescents.Methods:From September 2021 to April 2023, a total of 52 adolescents with IGD (IGD group) from the First Affiliated Hospital of Zhengzhou University and 51 normal adolescents (HC group) from community were selected as study subjects.The severity of adolescent internet addiction was assessed using the Young internet addiction scale (YIAS).Family relationships and maladaptive cognition were evaluated by the Chinese version of family environment scale (FES-CV) and the Chinese adolescents’ maladaptive cognitions scale (CAMCS).SPSS 22.0 software was used for descriptive analysis, correlation analysis and mediation analysis.Two-sample t-tests were used for quantitative data comparison, and chi-square tests were used for qualitative data comparison. Pearson correlation analysis was conducted to analyze the relationship of variables, and the intermediate variable test was performed using Bootstrap method. Results:(1) Compared with HC group, the score of YIAS in IGD group was higher, and the difference was statistically significant((63.69±10.36), (28.96±5.20), t=21.571, P<0.05). Compared with the HC group, the conflict score of FES-CV in the IGD group was higher((4.79±2.02), (3.33±1.42), t=4.228, P<0.05), and the cohesion score of FES-CV was lower ((4.46±1.64), (5.57±1.33), t=-3.768, P<0.05).Compared with the HC group, the CAMCS score in IGD group was higher, and the difference was statistically significant((28.88±10.11), (22.98±9.11), t=3.116, P<0.05). (2) There was a positive correlation between conflict of family relationships and IGD ( r=0.504, P<0.01), and a negative correlation between cohesion of family relationships and IGD( r=-0.474, P<0.01) in IGD group. (3) Path analysis and mediation effect test showed that conflict in family relationships positively predicted IGD ( β=0.331, 95% CI=0.100-0.563) and maladaptive cognition ( β=0.372, 95% CI=0.108-0.636). Maladaptive cognitive positively predicted IGD ( β=0.464, 95% CI=0.232-0.696). Maladaptive cognition played a mediating role between conflict of family relationships and IGD, and the mediating effect value was 0.173 (95% CI=0.020-0.366), accounting for 34.33%(0.173/0.504) of the total effect. Conclusion:Family relationships are related to IGD in adolescents. Maladaptive cognition may play a mediating role between family relationships and IGD in adolescents.

Objective:To analyze the mediating role of maladaptive cognition between family relationships and internet gaming disorder (IGD) in adolescents.Methods:From September 2021 to April 2023, a total of 52 adolescents with IGD (IGD group) from the First Affiliated Hospital of Zhengzhou University and 51 normal adolescents (HC group) from community were selected as study subjects.The severity of adolescent internet addiction was assessed using the Young internet addiction scale (YIAS).Family relationships and maladaptive cognition were evaluated by the Chinese version of family environment scale (FES-CV) and the Chinese adolescents’ maladaptive cognitions scale (CAMCS).SPSS 22.0 software was used for descriptive analysis, correlation analysis and mediation analysis.Two-sample t-tests were used for quantitative data comparison, and chi-square tests were used for qualitative data comparison. Pearson correlation analysis was conducted to analyze the relationship of variables, and the intermediate variable test was performed using Bootstrap method. Results:(1) Compared with HC group, the score of YIAS in IGD group was higher, and the difference was statistically significant((63.69±10.36), (28.96±5.20), t=21.571, P<0.05). Compared with the HC group, the conflict score of FES-CV in the IGD group was higher((4.79±2.02), (3.33±1.42), t=4.228, P<0.05), and the cohesion score of FES-CV was lower ((4.46±1.64), (5.57±1.33), t=-3.768, P<0.05).Compared with the HC group, the CAMCS score in IGD group was higher, and the difference was statistically significant((28.88±10.11), (22.98±9.11), t=3.116, P<0.05). (2) There was a positive correlation between conflict of family relationships and IGD ( r=0.504, P<0.01), and a negative correlation between cohesion of family relationships and IGD( r=-0.474, P<0.01) in IGD group. (3) Path analysis and mediation effect test showed that conflict in family relationships positively predicted IGD ( β=0.331, 95% CI=0.100-0.563) and maladaptive cognition ( β=0.372, 95% CI=0.108-0.636). Maladaptive cognitive positively predicted IGD ( β=0.464, 95% CI=0.232-0.696). Maladaptive cognition played a mediating role between conflict of family relationships and IGD, and the mediating effect value was 0.173 (95% CI=0.020-0.366), accounting for 34.33%(0.173/0.504) of the total effect. Conclusion:Family relationships are related to IGD in adolescents. Maladaptive cognition may play a mediating role between family relationships and IGD in adolescents.

Objective To explore the safety and effectiveness of the comprehensive therapy of "Five-in-One" of traditional Chinese medicine combined with low concentration of atropine in the prevention and control of myopia in adolescents. Methods Eighty adolescents diagnosed with mild myopia were included in the study. According to the wishes of the subjects and their guardians, they were divided into control group with 40 cases and traditional Chinese medicine intervention group with 40 cases. The control group received 0.01% atropine sulfate eye drops in both eyes once before bedtime every night, the traditional Chinese medicine intervention group underwent twice-weekly comprehensive therapy of "Five-in-One" of traditional Chinese medicine on the basis of local application of medication in the control group. Both groups received a 12-month intervention course. Follow-up visits were conducted before intervention and at 3, 6, and 12 months after treatment. The international standard visual acuity chart was used to examine the changes in unaided distance visual acuity before and after treatment in both groups. The changes of distant visual acuity of naked eye before and after treatment were measured in two groups. The changes in equivalent spherical lens power before and after treatment in both groups were measured by mydriatic refraction combined with a computer optometer. The changes in axial length before and after treatment were measured using an optical biometer. The adverse reactions after treatment in both groups were compared. Results In the control group, the uncorrected distance visual acuity decreased compared with that before intervention as the treatment time prolonged, while was gradually increased in the traditional Chinese medicine intervention group compared with that before intervention (P < 0.05). At 12 months after treatment, the uncorrected distance visual acuity in the traditional Chinese medicine intervention group was higher than that in the control group (P < 0.05). With the prolongation of treatment time, the equivalent spherical lens power gradually increased in both groups (P < 0.05).At 12 months after treatment, the equivalent spherical lens power in the traditional Chinese medicine intervention group was lower than that in the control group (P < 0.05). The axial length gradually increased with the prolongation of treatment time in both groups (P < 0.05). At 6 and 12 months after treatment, the axial length in the traditional Chinese medicine intervention group was shorter than that in the control group (P < 0.05). After using 0.01% atropine, 8 children in the control group developed outdoor photophobia symptoms; after treatment with the comprehensive therapy of "Five-in-One" of traditional Chinese medicine combined with 0.01% atropine sulfate eye drops in the traditional Chinese medicine intervention group, 4 children developed outdoor photophobia symptoms, but the symptoms disappeared after 2 weeks of medication. Conclusion The comprehensive therapy of "Five-in-One" in traditional Chinese medicine combined with low-concentration atropine is significantly more effective than low-concentration atropine alone in effectively controlling the progression of refractive myopia and reducing its adverse reactions.

Objective:To explore the characteristic of dynamic function network connectivity (dFNC) of resting brain networks in internet gaming disorder (IGD) adolescents.Methods:Forty-four adolescent IGD subjects (IGD group, male/female: 38/6) and fifty healthy controls (HC group, male/female: 40/10) were collected, and the subjects completed demographic questionnaires, Young internet addiction scale(YIAS), Chinese adolescents' maladaptive cognitions scale(CAMAS), and functional magnetic resonance imaging (fMRI) tests. The fMRI data were preprocessed on the Matlab platform, and the preprocessed data was divided into 64 components for group level independent component analysis.The dynamic functional connectivity of obtained 18 effective independent components was analyzed by sliding time window technique, and the difference of dynamic functional connectivity of brain triple network between the IGD group and HC group was compared using SPSS 22.0 software.Results:Four repeated dFNC states were identified through cluster analysis.Each state indicated that different functional networks had different connection strengths.State 3, the most frequent state, had been indicated that the whole brain network of the subject was in a state of weak functional connectivity.The second frequent state was state 1, which indicated enhanced functional connectivity within the subject's central executive network (CEN).State 2 had been indicated enhanced functional connectivity within the subject's salience network (SN).State 4 had been indicated generally enhanced functional connectivity in the subjects' brain networks, and this state was the least frequent.The results of non-parametric permutation test on the time attribute showed that compared with the HC group, the IGD group had a longer time score (IGD group: 0.24±0.19, HC group: 0.13±0.15, t=1.19, P<0.05, non-parametric substitution test) for state 1 with strong connectivity within the CEN, which was positively correlated with the YIAS score and game time ( r=0.418, P=0.003; r=0.515, P=0.004).Compared with HC group, the functional connectivity of ICD group between the internal insula of the SN and the dorsal anterior cingulate cortex was enhanced ( P<0.05, FDR corrected), while the average residence time in weakly connected state 3 was longer ( Z=2.09, P<0.05, nonparametric substitution test). Conclusions:The difference in dynamic functional connectivity of the triple network in the brain of IGD adolescents under resting state is mainly manifested by strong connections in CEN, functional connections between insula and dorsal anterior cingulate cortex in SN is enhanced, and weakening of overall functional connections, which may play an important role in the pathological mechanism of IGD.

OBJECTIVE To analyze and identify the metabolites of isoimperatorin in normal rats in vivo. METHODS After the rats were intragastrically administered, the plasma, urine and feces samples of rats in normal and dosed groups were collected, and the samples were processed by solid phase extraction. Then, UHPLC-HRMS(Q-Exactive Orbitrap MS) high- resolution mass spectrometry was used to analyze biological samples, and the metabolites were screened and identified. RESULTS In both positive and negative ion modes, a total of 32 metabolites were accurately analyzed and identified based on the precise molecular masses obtained, chromatographic retention behavior, control mass spectral cleavage patterns, characteristic fragment ions, and relevant literature reports. The main metabolic pathways were furan ring opening, lactone hydrolysis, oxidation, methylation, glucuronidation, sulfation and their complex reactions. Among them, the glucuronidation product was discovered for the first time. CONCLUSION This study comprehensively clarifies the transformation pathways of isoimperatorin in rats, which can provide a basis for its pharmacodynamic study and metabolism study analysis of the other furocoumarins.