OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

Thyroid cancer is one of the most prevalent cancers in the world, accounting for the increased sensitivity of diagnostic assessments, the environment, and extensive imaging. While open thyroidectomy still forms the base surgical treatment of differentiated thyroid carcinoma (DTC), its visible scarring and postoperative morbidity have mandatorily propelled a longitudinal shift to minimally invasive techniques. Robotic thyroidectomy using the bilateral axillo-breast approach (BABA) is an emerging transformative technique that combines robotic precision and visualization with oncologic efficacy and superior cosmetic outcomes to enhance recovery. Molecular diagnostics such as next-generation sequencing (NGS) and microRNA classifiers have transformed preoperative planning. These tools aid in accurate risk stratification, enabling clinicians to determine the course of surgery and avoid overtreatment. Artificial intelligence (AI) enhances precision medicine by improving nodule classification, predicting surgical risks, providing intraoperative navigation guidance, and supporting postoperative histopathological evaluations. Despite these innovations, cost, accessibility, and ethical governance issues highlight persistent challenges. This review consolidates the current state of robotic-assisted surgery for thyroid cancer with molecular profiling and AI. It proposes future aims and strides toward precision surgery that is accessible worldwide.

Objective To explore the application value of anhydrous ethanol as an alternative to methanol in the preparation of chromosomal specimens from peripheral blood lymphocytes, and to establish a set of quantitative analytical methods for objectively evaluating the effectiveness of specimen preparation. Methods Residual blood samples from routine laboratory slide preparation were used for lymphocyte culture. The standard slide preparation method was employed. The fixative in the control group was methanol and glacial acetic acid (3∶1). Four experimental groups were set up based on the ratio of anhydrous ethanol to glacial acetic acid in the fixative (volume ratios of 3∶1, 5∶1, 7∶1, and 9∶1 for experimental groups 1, 2, 3, and 4, respectively). A chromosomal analysis was conducted using an automated chromosome scanning/image analysis system to evaluate the morphology and dispersion of metaphase chromosomes in both control and experimental groups. Comparisons were made between the control and experimental groups regarding the dic + r aberration rate, ace aberration rate, chromosomal aberration rate, chromosome dispersion index, chromosome overlapping ratio, and dispersion index/overlapping ratio. Results Microscopic evaluation revealed that the preparation quality of experimental groups 1 and 2 was comparable to the control group. No statistically significant differences were observed in dic + r aberration rate between each of the experimental groups and the control (P > 0.05). All experimental groups except group 4 showed no significant differences in ace aberration rate and chromosome aberration rate compared with the control group (P > 0.05). Experimental groups 1 and 2 showed no significant differences in chromosome dispersion index, overlapping ratio, and dispersion index/overlapping ratio compared with the control group (P > 0.05). Conclusion A mixture of anhydrous ethanol and glacial acetic acid at a 5∶1 ratio is recommended for use as a fixative in the preparation of chromosomal specimens from peripheral blood lymphocytes. A quantitative index system for assessing the quality of chromosomal specimens was established, enabling objective evaluation of slide preparation effectiveness.

Meropenem （MEM） is one of the important drugs for the treatment of severe infections， but the standard dose is often difficult to achieve an effective therapeutic concentration target. This article reviews the related studies on the population pharmacokinetics of MEM in patients with severe infection. It is found that the apparent volume of distribution （Vd） and clearance rate are the most important factors affecting the dose adjustment， and the factors affecting Vd include serum albumin， age， overall weight， shock status， and chest/abdomen/cerebrospinal fluid drainage. The main factors affecting the clearance rate were renal function， renal replacement therapy treatment mode and combination therapy. For adult patients with severe infections in China， MEM is recommended to be administered in an individualized manner based on glomerular filtration rate， with a dosage range of 500 to 1 500 mg given every 4 to 6 hours， and prolonged infusion is preferred. When the minimum inhibitory concentration （MIC） of the pathogenic bacteria reaches 64 mg/L， therapeutic drug monitoring is required. For therapeutic efficacy， it is essential to ensure that the trough concentration remains above the MIC； to prevent drug resistance， it should be maintained above 4×MIC. Regarding safety， it is recommended that the upper limit of the trough concentration be 32 mg/L， and blood sampling for monitoring can be conducted as early as after 1 to 2 doses of administration.

Linxian County in Henan Province, Northern China is known as the region with the highest incidence and mortality rate of esophageal cancer worldwide. Since 1959, the Henan medical team has conducted field work on esophageal cancer prevention and treatment in Linxian. Through three generations of effort exerted by oncologists over 65 years of research on esophageal cancer prevention and treatment in Linxian, the incidence rate of esophageal squamous cell carcinoma in this area has dropped by nearly 50%, and the 5-year survival rate has increased to 40%, reaching the international leading level. This article aims to summarize the history, present opportunities and new challenges, and explore the experience of esophageal cancer prevention and treatment in Linxian (referred to as the “Linxian experience”), providing reference and guidance to cancer prevention and treatment research in China.

Objective: This study aimed to explore the relationships between various exercise components (frequency, intensity, duration) and social anxiety. Methods: A sample of 844 college students in China participated in this study. The Physical Activity Rating Scale-3 assessed participants’ daily physical activity. Social anxiety levels were measured using the Liebowitz Social Anxiety Scale. A questionnaire was developed to collect demographic information and examine the relationships between exercise components and social anxiety levels. Results: One-way analysis of variance revealed significant differences in social anxiety levels across varying physical activity intensities. Specifically, students engaging in high levels of physical activity exhibited the lowest social anxiety. Post hoc analyses identified that exercise frequency F3 (p<0.01), exercise duration D5 (p<0.01), and exercise intensity I3 (p<0.01) were significantly associated with the lowest social anxiety levels. Among these components, regression analysis indicated that exercise duration (p<0.01) had the most substantial impact on social anxiety levels, followed by exercise frequency (p<0.05). In contrast, exercise intensity (p>0.05) did not significantly affect social anxiety levels. Conclusion The most influential factors associated with decreased social anxiety were: 1) moderate to high exercise intensity, 2) exercise duration of at least one hour, and 3) exercise frequency of at least 1–2 times per week. Among these factors, exercise duration and frequency demonstrated significantly stronger associations with reduced social anxiety. Therefore, it is advisable to prioritize exercise duration and frequency in physical activity programs for college students to reduce social anxiety and achieve more substantial outcomes.

Objective: This study aimed to explore the relationships between various exercise components (frequency, intensity, duration) and social anxiety. Methods: A sample of 844 college students in China participated in this study. The Physical Activity Rating Scale-3 assessed participants’ daily physical activity. Social anxiety levels were measured using the Liebowitz Social Anxiety Scale. A questionnaire was developed to collect demographic information and examine the relationships between exercise components and social anxiety levels. Results: One-way analysis of variance revealed significant differences in social anxiety levels across varying physical activity intensities. Specifically, students engaging in high levels of physical activity exhibited the lowest social anxiety. Post hoc analyses identified that exercise frequency F3 (p<0.01), exercise duration D5 (p<0.01), and exercise intensity I3 (p<0.01) were significantly associated with the lowest social anxiety levels. Among these components, regression analysis indicated that exercise duration (p<0.01) had the most substantial impact on social anxiety levels, followed by exercise frequency (p<0.05). In contrast, exercise intensity (p>0.05) did not significantly affect social anxiety levels. Conclusion The most influential factors associated with decreased social anxiety were: 1) moderate to high exercise intensity, 2) exercise duration of at least one hour, and 3) exercise frequency of at least 1–2 times per week. Among these factors, exercise duration and frequency demonstrated significantly stronger associations with reduced social anxiety. Therefore, it is advisable to prioritize exercise duration and frequency in physical activity programs for college students to reduce social anxiety and achieve more substantial outcomes.

Objective: This study aimed to explore the relationships between various exercise components (frequency, intensity, duration) and social anxiety. Methods: A sample of 844 college students in China participated in this study. The Physical Activity Rating Scale-3 assessed participants’ daily physical activity. Social anxiety levels were measured using the Liebowitz Social Anxiety Scale. A questionnaire was developed to collect demographic information and examine the relationships between exercise components and social anxiety levels. Results: One-way analysis of variance revealed significant differences in social anxiety levels across varying physical activity intensities. Specifically, students engaging in high levels of physical activity exhibited the lowest social anxiety. Post hoc analyses identified that exercise frequency F3 (p<0.01), exercise duration D5 (p<0.01), and exercise intensity I3 (p<0.01) were significantly associated with the lowest social anxiety levels. Among these components, regression analysis indicated that exercise duration (p<0.01) had the most substantial impact on social anxiety levels, followed by exercise frequency (p<0.05). In contrast, exercise intensity (p>0.05) did not significantly affect social anxiety levels. Conclusion The most influential factors associated with decreased social anxiety were: 1) moderate to high exercise intensity, 2) exercise duration of at least one hour, and 3) exercise frequency of at least 1–2 times per week. Among these factors, exercise duration and frequency demonstrated significantly stronger associations with reduced social anxiety. Therefore, it is advisable to prioritize exercise duration and frequency in physical activity programs for college students to reduce social anxiety and achieve more substantial outcomes.

Objective:To discuss the optimal doping concentration of vanadium(V)and silicon(Si)co-doped TiO? coating(V-Si TiO?)formed on titanium surface by electrochemical treatment,to evaluate its antibacterial effect under visible light irradiation,and to clarify its visible light response mechanism.Methods:The medical pure titanium sheets were subjected to micro-arc oxidation followed by high-temperature calcination,and V-Si TiO2 coatings with different doping concentrations were prepared by adjusting the ratio of V to Si in the electrolyte.The experiment was divided into 1V:10Si(V5Si50)group,2V:10Si(V10Si50)group,and 3V:10Si(V15Si50)group;control group was set up(contains only bacterial culture medium).The optimal doping concentration was screened based on comprehensive evaluation of surface morphology,ion release,photocatalytic ability,and biocompatibility;cell counting kit-8(CCK-8)method was used to detect the proliferation activities and the survival rates of the cells in various group.Subsequently,the optimized coating was characterized and compared by scanning electron microscope(SEM),atomic force microscopy(AFM),digital eddy current coating thickness gauge,X-ray diffraction(XRD),X-ray photoelectron spectroscope(XPS),and ultraviolet-visible absorption spectroscopy(UV-vis).The experiment was divided into PT group(blank control),PEO group(no element doping),V10 group(V doping),Si50 group(Si doping),and V10Si50 group(2V:10Si).The ability of the coating materials to degrade methylene blue(MB)and generation of reactive oxygen species(ROS)under visible light were detected.For antibacterial experiments,Staphylococcus aureus(S.aureus)and Escherichia coli(E.coli)were used.The colony counts on plates in various groups were recorded after visible light irradiation for 2 h and dark treatment for 2 h,respectively.The ROS levels were detected using 2',7'-dichlorofluorescein diacetate(DCFH-DA)ROS probe.ROS scavenging experiment was performed using the optimal doping concentration V10Si50 group,and the two kinds of bacteria were divided into blank control group,N-acetylcysteine(NAC)group,V10Si50 group,and NAC+V10Si50 group.The colony counts on plates in various groups were recorded after visible light irradiation for 2 h.Results:The V concentration of 0.01 mol·L?1 and Si concentration of 0.05 mol·L?1 in the electrolyte solution were the optimal doping concentrations for the V-Si TiO? coating.The SEM observation results showed that compared with V5Si50 group and V15Si50 group,the surface pore size of the coating material in V10Si50 group was significantly decreased(P<0.05),and the coating thickness was significantly increased(P<0.05);its crystal structure was mainly anatase type,and the MB degradation rate of the coating material in V10Si50 group after 9 h of visible light catalysis was significantly increased(P<0.05).Compared with control group,the cell proliferation activity and cell survival rate in V10Si50 group were significantly increased at 1,2,and 4 d of cell culture(P<0.05);at 2 and 4 d of cell culture,the cell proliferation activity and cell survival rate in V5Si50 group and V15Si50 group were significantly decreased(P<0.05).Compared with PT,PEO,and Si50 groups,the colony counts of two kinds of the bacteria in V10 group and V10Si50 group after visible light irradiation for 2 h were significantly decreased(P<0.05).Compared with PT group and PEO group,the ROS levels in two kinds of the bacteria in V10Si50 group after 2 h of irradiation were significantly increased(P<0.05).Compared with V10Si50 group,the colony counts of two kinds of the bacteria in NAC+V10Si50 group were significantly increased(P<0.05).Conclusion:A reasonably loaded V-Si TiO? coating material(V10Si50)was screened out,which maintained good biological activity and significantly enhanced the antibacterial effect under visible light irradiation.

Objective:To investigate the different expression levels of programmed cell death 1 ligand 1 (PD-L1) in non-small cell carcinoma (NSCLC) of distribution characteristics of TCM constitutions and prognosis.Methods:The clinical data of 355 NSCLC patients who had been treated with immune checkpoint inhibitors (ICIs) from January 2019 to June 2023 in the Cancer Medical Center of the First Affiliated Hospital of Hunan University of Chinese Medicine were retrospectively analyzed, and their TCM constitutions were determined. According to the expression level of PD-L1, they were divided into three groups: low expression group (TPS≤1%), medium expression group (1% < TPS < 49%) and high expression group (TPS≥50%). Overall survival (OS) of patients was followed up, and the median OS were compared. Kaplan-Meier method was used to draw survival curves, and Log-rank test was used to compare the difference of survival curves. The independent risk factors of OS were analyzed by COX regression.Results:The distribution of different TCM constitutions showed statistical significance across the three groups ( P<0.05). The median OS for the medium and high expression groups were 21.082 months and 25.714 months, respectively, both significantly higher than the 14.437 months for the low expression group ( P<0.05). The survival curve of TCM constitutions showed that the constitutions significantly correlated with the prognosis of ICIs treatment were qi deficiency, phlegm dampness, and blood stasis ( P<0.05 or P<0.01). The median OS from high to low was 44.971 months for phlegm-dampness constitution, 23.297 months for qi-deficiency constitution, and 11.763 months for blood-stasis constitution. COX regression analysis indicated that medium PD-L1 expression ( HR=0.622, 95% CI=0.459,0.844, P=0.002), high PD-L1 expression ( HR=0.509, 95% CI=0.361,0.718, P<0.001), phlegm-dampness constitution ( HR=0.556, 95% CI=0.335,0.924, P=0.024), and blood-stasis constitution ( HR=2.952, 95% CI=1.929,4.518, P<0.001) were independent prognostic factors. Conclusions:The higher the expression level of PD-L1 in NSCLC patients, the better the prognosis of ICIs treatment. The prognosis of ICIs treatment is better for people with phlegm-dampness constitution and poor for those with blood stasis constitution.