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

Purpose: This study evaluated a school-based mental health program within a psychiatry clerkship to enhance medical students’ competencies in mental health literacy, empathy, communication, and adaptability. The program aimed to bridge theoretical knowledge with practical skills through experiential learning in a real-world, community-based setting. Methods: The study utilized convenience sampling to select 32 medical students from the 2023–2024 psychiatry clerkship cohort. Four focus group discussions, each lasting 60–90 minutes, provided qualitative data, which were analyzed using reflexive thematic analysis in Atlas.ti (ATLAS.ti GmbH, Germany) to identify themes related to professional development. Results: Five key themes emerged, highlighting significant gains in context-sensitive communication, empathy, and mental health literacy specific to adolescent issues. The students reported increased clinical confidence, enhanced resilience through psychological techniques such mindfulness and motivational interviewing, and benefited from sustained engagement and peer support, fostering collaboration and stress management. Conclusion The school-based mental health program enhanced essential competencies in mental health literacy, empathy, communication, and practical skills for medical students. By integrating experiential learning into medical education, the program addressed training gaps, equipping future healthcare providers with the skills necessary for holistic and patient-centered mental healthcare across diverse clinical settings. The approach showed potential for broader applications in medical education to prepare students for comprehensive mental health support skills.

Purpose: This study evaluated a school-based mental health program within a psychiatry clerkship to enhance medical students’ competencies in mental health literacy, empathy, communication, and adaptability. The program aimed to bridge theoretical knowledge with practical skills through experiential learning in a real-world, community-based setting. Methods: The study utilized convenience sampling to select 32 medical students from the 2023–2024 psychiatry clerkship cohort. Four focus group discussions, each lasting 60–90 minutes, provided qualitative data, which were analyzed using reflexive thematic analysis in Atlas.ti (ATLAS.ti GmbH, Germany) to identify themes related to professional development. Results: Five key themes emerged, highlighting significant gains in context-sensitive communication, empathy, and mental health literacy specific to adolescent issues. The students reported increased clinical confidence, enhanced resilience through psychological techniques such mindfulness and motivational interviewing, and benefited from sustained engagement and peer support, fostering collaboration and stress management. Conclusion The school-based mental health program enhanced essential competencies in mental health literacy, empathy, communication, and practical skills for medical students. By integrating experiential learning into medical education, the program addressed training gaps, equipping future healthcare providers with the skills necessary for holistic and patient-centered mental healthcare across diverse clinical settings. The approach showed potential for broader applications in medical education to prepare students for comprehensive mental health support skills.

Objective To evaluate the reliability and validity and perform cost-consequence analysis of the brief version of the Montreal cognitive assessment(MoCA)for identifying cognitive impairment in a community-based population ≥50 years of age.Methods The internal consistency and retest reliability of the brief version of the MoCA were analyzed,and the area under the curve(AUC),sensitivity,and specificity were determined to discriminate mild cognitive impairment(MCI)and dementia with the clinical dementia rating(CDR)as the diagnostic criterion.The consistency between the brief version and the full version was analyzed by the Kappa test and the Bland-Altman method,and the number of individuals entering the diagnostic assessment and the overall assessment time were estimated and compared between the two versions.Results A total of 303 individuals were included in this study,of whom 192,94,and 17 had normal cognitive function,MCI,and dementia,respectively.The Cronbach's α and re-test coefficients of the brief version of MoCA were 0.754 and 0.711(P<0.001),respectively.The brief version showed the AUC,sensitivity,and specificity of 0.889,74.5%,and 93.8% for identifying MCI,and 0.994,100%,and 93.8% for identifying dementia,respectively.When the brief version of MoCA was used to identify 94 patients with MCI in 303 individuals,107 individuals required additional diagnostic assessment,with an overall assessment time of 142.4 h,which represented decreases of 21.3% and 32.7%,respectively,compared with those of the full version.When the brief version of MoCA was used to identify 17 patients with dementia in 303 individuals,35 individuals required additional diagnostic assessment,with an overall assessment time of 70.4 h,a decrease of 29.5% in the time cost compared with the full version.Conclusions The brief version of MoCA can identify cognitively impaired individuals in a community-based middle-aged and elderly population,with diagnostic validity comparable to that of the full version but less time cost and fewer individuals needing additional diagnostic assessment to detect true-positive cases.It could be expanded for use in the community-based primary screening setting.
Humans ; Aged ; Middle Aged ; Cognitive Dysfunction/diagnosis* ; Male ; Female ; Mental Status and Dementia Tests ; Reproducibility of Results ; Dementia/diagnosis* ; Sensitivity and Specificity ; Aged, 80 and over ; Cost-Benefit Analysis

Bovine rotavirus(BRV)is an important pathogen causing diarrhea in calves.To understand the genomic charac-teristics and genetic variations in bovine rotavirus,and to further enrich data on the biological characteristics of rotavirus,we aimed to amplify 11 gene segments of the isolated and cultured G6P[1]bovine rotavirus BLL strain,perform whole genome se-quencing,and analyze the molecular characteristics.MEGA7.0 and DNAMAN software were used for homology and typing a-nalysis,and the whole genome phylogenetic tree was constructed to analyze genetic evolution relationships.The complete geno-type of the BLL strain was G6-P[1]-I2-R2-C2-M2-A3-N2-T6-E2-H3.Phylogenetic analysis of the VP7 and VP4 genes of the BLL strain showed that the VP7 gene had the highest homology with RVA/Cow-wt/HB01/China/2021,and the VP4 gene of the BLL strain was in the same branch as RVA/Human-tc/ISR/Ro8059/1995.From the sequence alignment of VP8*amino acids,the sialic acid domain of the BLL strain was found to be similar to that in other P[1]strains,but different from those in other types of strains,except for residue 189,which was the same as that in Ro8059 but different from that in other strains.The results suggested that the BLL strain might potentially infect humans.Therefore,continued monitoring and study of the biological characteristics of this strain are necessary to provide more information and evidence supporting further research on the cross-species transmission of group A rotavirus in China.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Against the backdrop of frequent regional conflicts and natural disasters worldwide，emergency medical rescue for mass casualty events faces significant challenges. To address critical issues such as rapid triage for polytrauma，optimization of treatment strategies，and determination of intervention priorities，the International Trauma Medicine Community has established multiple trauma scoring systems to guide clinical decision-making. Intelligent portable ultrasound，leveraging its technical advantages of lightweight portability，non-invasiveness，safety，and real-time imaging，demonstrates increasingly prominent clinical value in prehospital trauma assessment. This study systematically reviews relevant literature from the past two decades，summarizing advancements in the application of intelligent portable ultrasound within prehospital emergency care and disaster medicine. Based on research focus considerations，this paper specifically examines the diagnostic efficacy and clinical value of this technology across three core domains：chest trauma，abdominal trauma，and musculoskeletal trauma.

AIM To explore the effects of Dahuang Lingxian Recipe on Th1/Th2 cell immune imbalance in a rat model of cholestatic liver fibrosis(CLF).METHODS 20 SD rats were randomly divided into the normal group,the model group,the ursodeoxycholic acid group(0.063 g/kg)and the Dahuang Lingxian Recipe group(4.8 g/kg),with 5 rats in each group.Except for those of the normal group,the rats of all other groups had open surgery of common bile duct ligation,followed by the gavage of corresponding drug two days later,and the procurement of the samples after gavage in the third week.The rats had their degree of liver fibrosis observed by HE and Masson stainings;their levels of serum total bile acid(TBA),alkaline phosphatase(AKP),γ-glutamyltransferase(γ-GT),alanine aminotransferase(ALT),aspartate aminotransferase(AST)and total bilirubin(TBil)measured by the kit;their hepatic percentage of TGF-β1,p-Smad2 and p-Smad3 positive cells detected by immunofluorescence and immunohistochemical staining;their.hepatic expressions of TGF-β1,Smad4,NF-κB p65,Collagen Ⅰ and Collagen Ⅲ protein and mRNA detected by Western blot and RT-qPCR;their levels of helper T cell 1(Th1)and helper T cell 2(Th2)in peripheral blood detected by flow cytometry,and their ratio of Th1/Th2 calculated as well.RESULTS Compared with the model group,the groups intervened with either ursodeoxycholic acid or Dahuang Lingxian Recipe displayed well-ordered liver cells,hepatic lobules and hepatic cords;a small amount of fatty degeneration;significantly reduced connective hyperplasia of hepatic fibers;significantly narrowed fibrous cords;a small amount of blue fibrous septa;greatly improved pathological injuries including inflammatory infiltration of central vein and portal area;decreased levels of serum TBA,TBil,AKP,γ-GT,ALT and AST(P＜0.05);decreased hepatic expressions of TGF-β1,p-Smad2 and p-Smad3(P＜0.05);decreased hepatic expressions of TGF-β1,Smad4,NF-κB p65,Collagen Ⅰ and Collagen Ⅲ protein and mRNA(P＜0.05);and increased counts of Th1 cells in peripheral blood,decreased counts of Th2 cells,resultsing increased Th1/Th2 ratio(P＜0.05).And an even better effect was observed in the Dahuang Lingxian Recipe group.CONCLUSION Dahuang Lingxian Recipe can reduce or reverse CLF by inhibiting hepatic stellate cell activation through maintaining Th1/Th2 cell immune balance via the NF-κB/TGF-β1 signaling pathway.

Purpose: This study evaluated a school-based mental health program within a psychiatry clerkship to enhance medical students’ competencies in mental health literacy, empathy, communication, and adaptability. The program aimed to bridge theoretical knowledge with practical skills through experiential learning in a real-world, community-based setting. Methods: The study utilized convenience sampling to select 32 medical students from the 2023–2024 psychiatry clerkship cohort. Four focus group discussions, each lasting 60–90 minutes, provided qualitative data, which were analyzed using reflexive thematic analysis in Atlas.ti (ATLAS.ti GmbH, Germany) to identify themes related to professional development. Results: Five key themes emerged, highlighting significant gains in context-sensitive communication, empathy, and mental health literacy specific to adolescent issues. The students reported increased clinical confidence, enhanced resilience through psychological techniques such mindfulness and motivational interviewing, and benefited from sustained engagement and peer support, fostering collaboration and stress management. Conclusion The school-based mental health program enhanced essential competencies in mental health literacy, empathy, communication, and practical skills for medical students. By integrating experiential learning into medical education, the program addressed training gaps, equipping future healthcare providers with the skills necessary for holistic and patient-centered mental healthcare across diverse clinical settings. The approach showed potential for broader applications in medical education to prepare students for comprehensive mental health support skills.

Purpose: This study evaluated a school-based mental health program within a psychiatry clerkship to enhance medical students’ competencies in mental health literacy, empathy, communication, and adaptability. The program aimed to bridge theoretical knowledge with practical skills through experiential learning in a real-world, community-based setting. Methods: The study utilized convenience sampling to select 32 medical students from the 2023–2024 psychiatry clerkship cohort. Four focus group discussions, each lasting 60–90 minutes, provided qualitative data, which were analyzed using reflexive thematic analysis in Atlas.ti (ATLAS.ti GmbH, Germany) to identify themes related to professional development. Results: Five key themes emerged, highlighting significant gains in context-sensitive communication, empathy, and mental health literacy specific to adolescent issues. The students reported increased clinical confidence, enhanced resilience through psychological techniques such mindfulness and motivational interviewing, and benefited from sustained engagement and peer support, fostering collaboration and stress management. Conclusion The school-based mental health program enhanced essential competencies in mental health literacy, empathy, communication, and practical skills for medical students. By integrating experiential learning into medical education, the program addressed training gaps, equipping future healthcare providers with the skills necessary for holistic and patient-centered mental healthcare across diverse clinical settings. The approach showed potential for broader applications in medical education to prepare students for comprehensive mental health support skills.