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

Idiopathic pulmonary fibrosis （IPF） can be classified as pulmonary collateral disease，and its pathogenesis is mainly characterized by the loss of Qi meridian nourishment，the loss of Yin meridian nourishment，and the formation of blood stasis in the blood vessels. Qi Yin deficiency is the pathological basis that runs through IPF，and obstruction of meridians and collaterals is a key element in the development of the disease. The dysfunction of "spleen being in charge of the defensive function" is closely related to the formation of the pathological pattern of "lung deficiency and collateral stasis" in IPF. The term "spleen being in charge of the defensive function" originated from the Yellow Emperor's Inner Canon. If the spleen is healthy，the Qi will be filled with vitality. Positive energy is stored inside，evil cannot be dried up. Its concept is quite similar to the immune defense function in modern medicine. If the principle of "spleen being in charge of the defensive function" is lost，the key structure and function of the IPF alveolar epithelial barrier may be abnormal，and it can interact with various innate immune cells to promote inflammation and fibrosis processes. Therefore，this article explains the imbalance of immune homeostasis in IPF alveolar epithelium from two aspects：the barrier function of alveolar epithelial cells（AECs） and their interaction with innate immune cells. And based on the theory of "spleen being in charge of the defensive function"，using traditional Chinese medicine for strengthening the spleen and nourishing Qi to treat IPF from the perspective of the spleen. This not only strengthens the scientific connotation of "spleen being in charge of the defensive function" in the pathogenesis of IPF，but also provides new research directions and ideas for its future clinical prevention and treatment.

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.

Objective:To investigate the clinical value of puncture biopsy for the diagnosis of vessels that encapsulate tumor clusters (VETC) and macrotrabecular-massive (MTM) subtypes of hepatocellular carcinoma (HCC).Methods:One hundred and eighty-four patients with HCC who underwent surgical resection at the Fifth Medical Centre of Chinses PLA General Hospital from November 2023 to July 2024 were prospectively collected, including 154 males and 30 females, aged (57.1±8.6) years. By simulating the clinical puncture procedure, puncture biopsy tissue specimens were obtained postoperatively from the patient's isolated tumors. The puncture biopsies and surgical resection specimens were stained with HE and CD34, and evaluated for VETC and MTM. Patients were divided into two groups based on the histopathological VETC results of surgically resected specimens: the VETC-positive group ( n=41) and the VETC-negative group ( n=143); and two groups based on the histopathological MTM results of surgically resected specimens: the MTM-positive group ( n=39) and the MTM-negative group ( n=145). Clinical data such as gender, age, tumor length, and alpha-fetoprotein (AFP) were recorded. Logistic regression analysis was performed to screen the risk factors of VETC and MTM. Evaluating the diagnostic efficacy of puncture biopsy for VETC and MTM. Results:The results of multivariable logistic analysis showed that puncture biopsy VETC-positive ( OR=63.97, 95% CI: 16.28-251.29), grade of M2 microvascular invasion ( OR=5.07, 95% CI: 1.31-19.59) and tumor length ≥5 cm ( OR=3.42, 95% CI: 1.11-10.52) were the risk factors for VETC-positive (all P<0.05); whereas the risk factors for MTM-positive were only puncture biopsy MTM-positive ( OR=34.78, 95% CI: 12.06-100.29, P<0.001). Puncture biopsy correctly diagnosed VETC subtype in 163 patients with a diagnostic accuracy of 0.89, sensitivity of 0.61, specificity of 0.97, positive predictive value (PPV) of 0.83, and negative predictive value (NPV) of 0.90; MTM subtype was correctly diagnosed in 164 patients with a diagnostic accuracy of 0.89, sensitivity of 0.72, specificity of 0.94, PPV of 0.76, and NPV of 0.93. Using the three indicators of puncture biopsy diagnosis, tumor length and AFP level as a combined indicator, the accuracy to diagnose VETC was 0.83, sensitivity was 0.71, specificity was 0.87, PPV was 0.60, and NPV was 0.91; and the combined indicator diagnosis of MTM had a diagnostic accuracy of 0.85, a sensitivity of 0.82, specificity of 0.86, PPV of 0.68 and NPV of 0.95. Conclusion:Puncture biopsy has high specificity and accuracy in the diagnosis of VETC and MTM subtypes, but the sensitivity is relatively limited, and the role of puncture combined with clinical factors in improving diagnostic efficacy is limited.

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.

Objective:To investigate the clinical value of puncture biopsy for the diagnosis of vessels that encapsulate tumor clusters (VETC) and macrotrabecular-massive (MTM) subtypes of hepatocellular carcinoma (HCC).Methods:One hundred and eighty-four patients with HCC who underwent surgical resection at the Fifth Medical Centre of Chinses PLA General Hospital from November 2023 to July 2024 were prospectively collected, including 154 males and 30 females, aged (57.1±8.6) years. By simulating the clinical puncture procedure, puncture biopsy tissue specimens were obtained postoperatively from the patient's isolated tumors. The puncture biopsies and surgical resection specimens were stained with HE and CD34, and evaluated for VETC and MTM. Patients were divided into two groups based on the histopathological VETC results of surgically resected specimens: the VETC-positive group ( n=41) and the VETC-negative group ( n=143); and two groups based on the histopathological MTM results of surgically resected specimens: the MTM-positive group ( n=39) and the MTM-negative group ( n=145). Clinical data such as gender, age, tumor length, and alpha-fetoprotein (AFP) were recorded. Logistic regression analysis was performed to screen the risk factors of VETC and MTM. Evaluating the diagnostic efficacy of puncture biopsy for VETC and MTM. Results:The results of multivariable logistic analysis showed that puncture biopsy VETC-positive ( OR=63.97, 95% CI: 16.28-251.29), grade of M2 microvascular invasion ( OR=5.07, 95% CI: 1.31-19.59) and tumor length ≥5 cm ( OR=3.42, 95% CI: 1.11-10.52) were the risk factors for VETC-positive (all P<0.05); whereas the risk factors for MTM-positive were only puncture biopsy MTM-positive ( OR=34.78, 95% CI: 12.06-100.29, P<0.001). Puncture biopsy correctly diagnosed VETC subtype in 163 patients with a diagnostic accuracy of 0.89, sensitivity of 0.61, specificity of 0.97, positive predictive value (PPV) of 0.83, and negative predictive value (NPV) of 0.90; MTM subtype was correctly diagnosed in 164 patients with a diagnostic accuracy of 0.89, sensitivity of 0.72, specificity of 0.94, PPV of 0.76, and NPV of 0.93. Using the three indicators of puncture biopsy diagnosis, tumor length and AFP level as a combined indicator, the accuracy to diagnose VETC was 0.83, sensitivity was 0.71, specificity was 0.87, PPV was 0.60, and NPV was 0.91; and the combined indicator diagnosis of MTM had a diagnostic accuracy of 0.85, a sensitivity of 0.82, specificity of 0.86, PPV of 0.68 and NPV of 0.95. Conclusion:Puncture biopsy has high specificity and accuracy in the diagnosis of VETC and MTM subtypes, but the sensitivity is relatively limited, and the role of puncture combined with clinical factors in improving diagnostic efficacy is limited.

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.