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

Objective: To assess the effect of 12-year-old children s pit and fissure sealants on the health of first permanent molars, so as to provide evidence for optimizing caries prevention strategies among children. Methods: In March 2025, a cluster random sampling method was used to conduct oral examinations on 965 students aged 12 from Chengdu s 2021 Comprehensive Intervention Program for Pediatric Oral Diseases. Data from the Comprehensive Intervention System for Children s Oral Diseases were referenced. Participants were divided into a sealed group ( n =755) and an unsealed group ( n =210) based on whether they had received sealants on their first permanent molars. Chi square test or analysis of variance were used to compare indicators such as caries incidence, new caries detection rate, and new caries mean (DMFT increment) between the two groups Results: The sealed group showed significantly lower caries incidence, new caries detection rate, and new caries mean (33.38%, 17.65%, 0.59±1.00) compared to the unsealed group (43.81%, 24.70%, 0.87±1.22)( χ 2/F =7.79, 18.26, 9.55, all P <0.05). However, no significant difference was found in the filled teeth ratio between the two groups (20.38% , 20.16%; χ 2=0.01, P =0.94). In girls, the sealed group exhibited significantly lower caries incidence, new caries detection rate, and new caries mean (36.78%, 20.99%, 0.69± 1.10 ) than the unsealed group (57.55%, 33.52%, 1.15±1.29) ( χ 2/F =14.42, 23.76, 10.92, all P <0.05), whereas no significant differences were observed between boys in the sealed (30.47%, 14.85%, 0.50±0.89) and unsealed groups (29.81%, 16.18%, 0.59± 1.08) ( χ 2/F =0.02, 0.41, 0.74, all P >0.05). Boys had significantly lower new caries detection rates and new caries means than girls in both groups ( χ 2/F =16.20, 6.94; 29.93, 11.84, all P <0.05). In urban areas, the sealed group had lower new caries detection rates and new caries means (19.37%, 0.68±1.04) than the unsealed group (24.66%, 0.90±1.20) ( χ 2/F =6.86, 3.94, both P <0.05). In suburban areas, all indicators for the sealed group (24.71%, 13.77%, 0.42±0.87) were significantly lower than those for the unsealed group (38.81%, 24.77%, 0.82±1.28) ( χ 2/F =5.28, 15.36, 6.00, all P <0.05). Indicators from specialized dental institutions (11.25%, 4.81%, 0.16±0.56) were significantly lower than those from county level or above general hospitals (33.33%, 19.11%, 0.38±1.00) and primary healthcare institutions (37.59%, 19.24%, 0.67±1.05) ( χ 2/F =20.99, 34.31, 21.08 , all P <0.01). Conclusions The 12-year-old children s pit and fissure sealants effectively reduce the caries incidence in first permanent molars, particularly showing significant effectiveness in girls and suburban children. Intervention strategies should be optimized according to gender.

Objective:To explore the value of preoperative 18F-fluorodeoxyglucose ( 18F-FDG) positron emission tomography (PET) metabolic heterogeneity parameters in predicting tumor deposits (TD) in colorectal cancer (CRC). Methods:A retrospective analysis was conducted on 91 CRC patients who underwent surgical treatment at the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School from February 2013 to March 2024. All patients underwent preoperative 18F-FDG PET/CT examination. The LIFEx-7.5.15 software was used to delineate the primary lesion with 40% of maximum standardized uptake value (SUV max) as the relative threshold, and metabolic parameters were extracted. Intratumoral metabolic heterogeneity parameters included cumulative SUV histogram area under the curve (AUC-CSH), heterogeneity index (HI), heterogeneity factor (HF), and coefficient of variation (CV). The presence of TD was confirmed by postoperative pathological examination. Differences in data between the TD group and non-TD (NTD) group were compared. Binary logistic regression analysis was used to identify independent risk factors for TD, and receiver operating characteristic (ROC) curve was used to evaluate the predictive efficacy of each parameter for TD. Results:Postoperative pathological diagnosis showed that 27 patients were included in the TD group and 64 in the NTD group. There were statistically significant differences between the TD group and NTD group in CV ( Z=-3.145, P=0.002) and the proportion of patients with carcinoembryonic antigen (CEA) >10 ng/ml (χ 2=10.751, P=0.001), while no statistically significant differences were found in HI, HF, or AUC-CSH (all P>0.05). Binary logistic regression analysis showed that CV was an independent risk factor for TD. ROC curve analysis showed that the area under the ROC curve (AUC) of CV for predicting TD was 0.709(95% CI: 0.593-0.826), which was higher than that of other metabolic heterogeneity parameters. Conclusions:The preoperative 18F-FDG PET/CT metabolic heterogeneity parameter CV has value in predicting TD in CRC patients.

Colorectal adenoma is a definite precancerous lesion,and the"inflammation-cancer transformation"is a key pathological link in the process of colorectal adenoma-cancer evolution.Under the guidance of the theory of"preventive treatment of diseases"in TCM,prevention before disease onset and preventing the development of the occurred disease has become the consensus and the important subject of clinical research to block the"inflammation-cancer transformation"and prevent the precancerous lesions of colorectal cancer.This article discussed the effectiveness of TCM in preventing and treating the"inflammation-cancer transformation"from different aspects.Its advantages are reflected in improving the symptoms of TCM and improving the quality of life,etc.Its mechanism may be related to inhibiting the activation of cancer-promoting signals,regulating inflammation,maintaining intestinal microbial homeostasis,and protecting the intestinal barrier.By explaining the pathogenesis of adenoma-cancer transformation in TCM,this article discussed the efficacy and advantages of TCM to block"inflammation-cancer transformation",analyzed its intervention targets and pathways,providing references for the intervention of TCM in the management of precancerous lesions of colorectal cancer and the synergistic prevention and treatment of traditional Chinese and Western medicine.

Colorectal adenoma is a definite precancerous lesion,and the"inflammation-cancer transformation"is a key pathological link in the process of colorectal adenoma-cancer evolution.Under the guidance of the theory of"preventive treatment of diseases"in TCM,prevention before disease onset and preventing the development of the occurred disease has become the consensus and the important subject of clinical research to block the"inflammation-cancer transformation"and prevent the precancerous lesions of colorectal cancer.This article discussed the effectiveness of TCM in preventing and treating the"inflammation-cancer transformation"from different aspects.Its advantages are reflected in improving the symptoms of TCM and improving the quality of life,etc.Its mechanism may be related to inhibiting the activation of cancer-promoting signals,regulating inflammation,maintaining intestinal microbial homeostasis,and protecting the intestinal barrier.By explaining the pathogenesis of adenoma-cancer transformation in TCM,this article discussed the efficacy and advantages of TCM to block"inflammation-cancer transformation",analyzed its intervention targets and pathways,providing references for the intervention of TCM in the management of precancerous lesions of colorectal cancer and the synergistic prevention and treatment of traditional Chinese and Western medicine.

Objective To observe the feasibility and accuracy of simplified prenatal ultrasonic evaluation on fetal bilateral lateral fissures.Methods A total of 513 pregnant women with gestational ages ranging from 20-34 weeks were prospectively enrolled.Transabdominal ultrasound screening of fetal bilateral lateral ventricular fissures on the transforaminal plane were performed,the ultrasonic display rate and characteristics like morphology of bilateral lateral fissures were recorded,and a simple grading system(3 levels)was applied for evaluating the fissures.Fetuses with abnormalities were further examined with MR,amniotic fluid/cord blood tests or whole-exome sequencing of umbilical cord tissue after birth.The pregnancy outcomes were documented.Results Normal fetal bilateral lateral fissures were observed using simplified prenatal ultrasonic evaluation in 500 fetuses whom were then successfully delivered,and normal cortical development was found in these 500 newborns,while abnormalities were detected in 13 fetuses.The display rate of transabdominal ultrasound on transforaminal plane for fetal bilateral lateral ventricular fissures was 92.20％(473/513).From 20 to 34 weeks,the morphology of bilateral lateral fissures could be simply graded into 3 levels:Level 1 presented as a shallow arc shape from 20-22 weeks,Level 2 presented as a blunt or right-angled broad platform from 22-26 weeks,and Level 3 presented as an acute-angled broad platform from 25-34 weeks.In 500 fetuses with normal development,the morphology of the near-field lateral fissures consistently developed in parallel with the far-field lateral fissures as gestational age increased.Among 13 fetuses with abnormal findings,abnormalities of bilateral lateral fissures were found in 8 fetuses,while unilateral abnormality was noticed in 5 fetuses.MR examination of all 13 fetuses and amniotic fluid whole-genome sequencing of 9 fetuses indicated abnormal cortical development.Conclusion Simplified prenatal ultrasound based on transforaminal column cross-section could conveniently and accurately classify morphology of fetal bilateral lateral sulcus.

AIM To compare total sugar,total protein,total phenol,total flavonoid,calycosin-7-O-β-D-glucoside,liquiritin,lobetyolin,quercetin,isoferulic acid,hesperidin,glycyrrhizic acid contents and their antioxidant activities,hypoglycemic activities of big honey pill,small honey pill,water pill,concentrated pill,granule,mixture and decoction of Buzhong Yiqi Recipe.METHODS Anthraquinone-sulfuric acid method,Coomassie brilliant blue method,Folin-phenol colorimetry method,sodium nitrite-aluminum nitrate method and HPLC were adopted in the content determination of total sugar,total protein,total phenol,total flavonoid and seven constituents,respectively,after which the scavenging capacities,reducing powers on DPPH·free radical,ABTS+free radical,hydroxyl free radical,and inhibition capacity on α-glucosidase activity were detected.Subsequently,correlation analysis was performed.RESULTS Total sugar,total protein,total phenol and total flavonoid contents demonstrated significant differences among different dosage forms(P＜0.05,P＜0.01).Calycosin-7-O-β-D-glucoside,glycyrrhizin,codonoside and quercetin displayed the highest contents in the decoction,while those of isoferulic acid,hesperidin and glycyrrhizin were observable in the mixture.The water pill exhibited the strongest antioxidant activity,while those of the concentrated pill and mixture were weak;the big honey pill exhibited the strongest hypoglycemic activity,while that of the decoction was the weakest.Total protein,total phenol,total flavonoid and liquiritin contents displayed significant positive correlations between antioxidant activity(P＜0.05,P＜0.01),while hesperidin content displayed significant negative correlation between the latter(P＜0.05);total protein,calycosin-7-O-β-D-glucoside,codonoside and quercetin contents displayed significant negative correlations between hypoglycemic activity(P＜0.05,P＜0.01).CONCLUSION Active constituent contents and their biological activities of Buzhong Yiqi Recipe with different dosage forms exist differences,total sugar,total protein,total flavonoids,calycosin-7-O-β-D-glucoside,licorice glycoside,hesperidin,codonoside and quercetin can be taken as quality control indices for this prescription.

The current situation of the medical equipment allocation was introduced in some rehabilitation and recuperation institution.The problems of the medical equipment were analyzed in terms of allocation planning,demand plan submission,use management,risk management and quality control,and some measures for enhancing medical equipment management of rehabilitation and recuperation institutions were put forward in unit-based allocation planning,precision planning management,standardized use management,all-element risk management and systemic quality control.References were provided for improving medical equipment application and management in similar rehabilitation and recuperation institutions.[Chinese Medical Equipment Journal,2025,46(10):91-96]

Patients with chronic rhinosinusitis(CRS)often suffer from olfactory dysfunction(OD),which seriously affects their quality of life.Traditional therapeutic interventions have limited efficacy in improving olfactory function.Olfactory training(OT),based on the mechanism of olfacto-ry nerve plasticity,promotes the recovery of olfactory function and has become a research hotspot in recent years.This paper systematically reviewed the mechanisms by which OT promotes the reconstruc-tion of olfactory function in patients with chronic rhinosinusitis with olfactory dysfunction(CRS-OD),as well as its implementation strategies and evidence-based application effects.It proposes a patient-centered,stepwise OT nursing intervention plan that integrates digital adherence tracking and psycho-logical support,providing evidence-based support for the standardization of olfactory rehabilitation pathways.

AIM To investigate effects of petroleum ether fraction from Derris eriocarpa How on glucose and lipid metabolism in a mouse model of metabolic syndrome(MS).METHODS KM mice were fed a high-fat diet and administered streptozotocin intraperitoneally to establish MS models.The MS mice were then randomly assigned to the model group,the metformin hydrochloride group,the lovastatin group,the ursolic acid group,and the high-,medium-and low-dose D.eriocarpa petroleum ether fraction groups,with 10 mice in each group.Ten additional mice maitained on a normal diet served as the normal control group.After 4 weeks of intragastric administration,glucose and lipid metabolism indicators were measured.Hepatic pathological changes were assessed using HE staining and oil red O staining.Liver tissue mRNA expressions of ATF3,PEPCK,FXR,CYP7A1,HNF4ɑ,CYP8B1 and SRB1 were quantified by RT-qPCR.Hepatic protein expressions of ATF3,HNF4ɑ,PEPCK,FXR and CYP7A1 was analyzed by Western blot in MS mice.RESULTS Compared to the model group,the high-dose D.eriocarpa petroleum ether fraction group exhibited significant glucose tolerance improvement(reduced OGTT-AUC,P＜0.01);favorable serum lipid modulation in terms of increased HDL-C levels(P＜0.01)and decreased TG,TC,LDL-C(P＜0.01);reduced renal biomarkers(BUN,SCR)and hepatotoxic indicators of TBA,AST and ALT activities(P＜0.01);alleviated hepatic lipid accumulation and histopathological damage;downregulated mRNA and protein expressions of ATF3,HNF4ɑ and PEPCK,as well as CYP8B1 mRNA expression(P＜0.01);and upregulated mRNA and protein expressions of FXR and CYP7A1,along with SRB1 mRNA expression(P＜0.01).CONCLUSION D.eriocarpa petroleum ether fraction ameliorates glucose and lipid metabolism dysregulation in MS mice by modulating the ATF3/HNF4ɑ/CYP7A1 signaling pathway,consequently eliciting hypoglycemic,hypolipidemic,hepatoprotective and nephroprotective effects.