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

Medical ultrasound technology is widely used for diagnosis and therapy in clinical practice.Ultrasound probes,which are directly contact with patients,pose a potential risk of pathogen transmission.This expert consen-sus was developed by a multidisciplinary team based on international guidelines,standards in China,and the results of a national survey,aiming to reduce the risk of healthcare-associated infection through standardizing reprocessing of medical ultrasound probes,and formulating consensus recommendations with the Delphi method.The consensus clarifies the reprocessing principles for three types of ultrasound probes of different infection risks:external-use ul-trasound probes,interventional percutaneous ultrasound probes,and internal-use ultrasound probes,puts forward systematic suggestions on the reprocessing standards and disinfection levels of ultrasound probe isolation covers and coupling agents,the reprocessing procedures and methods of ultrasound probes,as well as architectural layout and management of reprocessing,so as to provide a scientific prevention and control framework for ensuring ultrasound diagnosis and therapy safety.

Objectives:We evaluated the clinical significance of unipolar electrogram and bipolar electrogram in guiding radiofrequency ablation for outflow tract ventricular premature contractions(PVC).Methods:Data were collected from 78 patients who underwent successful radiofrequency ablation of PVC.Pre-procedure electrocardiogram showed a LBBB morphology on inferior leads.In the included patients,the right-side ablation was performed at first,and if the ablation failed,the left-side ablation was then performed.According to the location of the successful ablation target,they were divided into unilateral ablation successful group and bilateral ablation successful group.The differences in the earliest bipolar local activation to QRS(LATBi),unipolar-dV/dTmax to QRS(LATUni),and local activation time were compared between the two groups.Furthermore,the electrogram characteristics predicting bilateral ablation were explored.Results:Patients were divided into unilateral ablation group(n=57)and bilateral ablation group(n=21)according to the ablation site.There were statistically significant differences in LATBi(25[21,30]ms vs.14[10,24]ms),LATUni(7[0,17]ms vs.-23[-41,-11]ms),and ΔLATBi-Uni(15[11,25]ms vs.44[25,56]ms)between the unilateral ablation group and the bilateral ablation group(all P<0.05).Multivariate regression analysis suggested that LATBi,LATUni,and ΔLATBi-Uni were independent predictors of the need for bilateral ablation.There was no significant difference between left and right LATBi,LATUni and ΔLATBi-Uni in the bilateral ablation group.LATUni≤-1 was the most accurate parameter for predicting the need for bilateral ablation(AUC=0.941;specificity 80.7%;sensitivity 100%).Conclusions:LATUni≤-1ms is a useful indicator for predicting the need for bilateral PVC ablation in this patient cohort.

Objectives:To compare the intraoperative neurophysiological monitoring(IONM)results during 3-column osteotomy surgery in severe congenital scoliosis(CS)patients with or without intraspinal anomalies,and to explore the effect of intraspinal anomaly on the incidence of IONM alarm events and postoperative out-comes in CS patients.Methods:Clinical data of patients with severe CS who underwent 3-column osteotomy surgery in our hospital from September 2020 to May 2023 were retrospectively analyzed.The patients were divided into two groups according to whether combined with intraspinal anomalies.The basic information,the latency and amplitude of somatosensory evoked potentials(SSEPs)of both lower extremities,amplitude of tran-scranial electric motor evoked potentials(TCeMEPs),as well as the sensitivity and specificity of multimodal IONM were compared between the two groups.The incidence of IONM alarm events and postoperative out-comes were analyzed.Results:A total of 37 patients who met the criteria were included in the study,of which 14 patients combined with intraspinal anomalies,including 8 cases of syringomyelia,2 case of tethered cord,1 case of diastematomyelia,1 case of diastematomyelia combined with tethered cord,and 2 cases of sy-ringomyelia combined with tethered cord.The latency of SSEPs-P3 7 in the concave side lower extremity of CS patients with intraspinal anomalies was significantly longer than that of CS patients without intraspinal anomalies(40.9±3.3ms vs 38.0±3.7ms,P=0.03).In addition,the sensitivity and specificity of multimodal IONM were comparable between the two groups.There was no significant difference in the incidence of abnormal SSEPs,the incidence of IONM alarm events and the incidence of postoperative neurological symptoms between the two groups(P＞0.05).Conclusions:Multimodal IONM provides excellent monitoring effects in severe CS paitents undergoing 3-column osteotomy surgery.The latency of SSEPs-P37 in the concave side lower ex-tremity of CS patients with intraspinal anomalies was significantly longer than that of CS patients without in-traspinal anomalies.Intraspinal anomalies don't increase the incidence of intraoperative IONM alarm events or the incidence of postoperative neurological complications.

Objectives:We evaluated the clinical significance of unipolar electrogram and bipolar electrogram in guiding radiofrequency ablation for outflow tract ventricular premature contractions(PVC).Methods:Data were collected from 78 patients who underwent successful radiofrequency ablation of PVC.Pre-procedure electrocardiogram showed a LBBB morphology on inferior leads.In the included patients,the right-side ablation was performed at first,and if the ablation failed,the left-side ablation was then performed.According to the location of the successful ablation target,they were divided into unilateral ablation successful group and bilateral ablation successful group.The differences in the earliest bipolar local activation to QRS(LATBi),unipolar-dV/dTmax to QRS(LATUni),and local activation time were compared between the two groups.Furthermore,the electrogram characteristics predicting bilateral ablation were explored.Results:Patients were divided into unilateral ablation group(n=57)and bilateral ablation group(n=21)according to the ablation site.There were statistically significant differences in LATBi(25[21,30]ms vs.14[10,24]ms),LATUni(7[0,17]ms vs.-23[-41,-11]ms),and ΔLATBi-Uni(15[11,25]ms vs.44[25,56]ms)between the unilateral ablation group and the bilateral ablation group(all P<0.05).Multivariate regression analysis suggested that LATBi,LATUni,and ΔLATBi-Uni were independent predictors of the need for bilateral ablation.There was no significant difference between left and right LATBi,LATUni and ΔLATBi-Uni in the bilateral ablation group.LATUni≤-1 was the most accurate parameter for predicting the need for bilateral ablation(AUC=0.941;specificity 80.7%;sensitivity 100%).Conclusions:LATUni≤-1ms is a useful indicator for predicting the need for bilateral PVC ablation in this patient cohort.

Objectives:To compare the intraoperative neurophysiological monitoring(IONM)results during 3-column osteotomy surgery in severe congenital scoliosis(CS)patients with or without intraspinal anomalies,and to explore the effect of intraspinal anomaly on the incidence of IONM alarm events and postoperative out-comes in CS patients.Methods:Clinical data of patients with severe CS who underwent 3-column osteotomy surgery in our hospital from September 2020 to May 2023 were retrospectively analyzed.The patients were divided into two groups according to whether combined with intraspinal anomalies.The basic information,the latency and amplitude of somatosensory evoked potentials(SSEPs)of both lower extremities,amplitude of tran-scranial electric motor evoked potentials(TCeMEPs),as well as the sensitivity and specificity of multimodal IONM were compared between the two groups.The incidence of IONM alarm events and postoperative out-comes were analyzed.Results:A total of 37 patients who met the criteria were included in the study,of which 14 patients combined with intraspinal anomalies,including 8 cases of syringomyelia,2 case of tethered cord,1 case of diastematomyelia,1 case of diastematomyelia combined with tethered cord,and 2 cases of sy-ringomyelia combined with tethered cord.The latency of SSEPs-P3 7 in the concave side lower extremity of CS patients with intraspinal anomalies was significantly longer than that of CS patients without intraspinal anomalies(40.9±3.3ms vs 38.0±3.7ms,P=0.03).In addition,the sensitivity and specificity of multimodal IONM were comparable between the two groups.There was no significant difference in the incidence of abnormal SSEPs,the incidence of IONM alarm events and the incidence of postoperative neurological symptoms between the two groups(P＞0.05).Conclusions:Multimodal IONM provides excellent monitoring effects in severe CS paitents undergoing 3-column osteotomy surgery.The latency of SSEPs-P37 in the concave side lower ex-tremity of CS patients with intraspinal anomalies was significantly longer than that of CS patients without in-traspinal anomalies.Intraspinal anomalies don't increase the incidence of intraoperative IONM alarm events or the incidence of postoperative neurological complications.

Objective To compare the efficacy and safety of laparoscopic transabdominal preperitoneal mesh hernia repair(TAPP)and tension-free hernia repair(TFHR)in the treatment of inguinal hernia.Methods From January 2021 to June 2023,85 patients with inguinal hernia were treated in our hospital.They were grouped into TAPP group(n=42,with TAPP)and TFHR group(n=43,with open TFHR)based on the different surgical procedures.The surgical indicators,postoperative pain,serum testosterone levels of male,incidence of postoperative complications,and recurrence rate were compared between two groups.Results Intraoperative blood loss,postoperative exhaust time,and hospital stay in the TAPP group were lower than those in the TFHR group(P＜0.05);there was a difference in postoperative numerical rating scale(NRS)scores between two groups(P＜0.05),postoperative NRS scores in each group gradually decreased over time(P＜0.05),and there was an interaction among groups and time(P＜0.05),among them,TAPP group had lower scores than TFHR group at 12,24,and 48 hours after surgery(P＜0.05);one month after surgery,there were no difference in serum testosterone levels between the two groups compared before surgery(P＞0.05),and there was no difference between the two groups(P＞0.05);the incidence of postoperative complications in the TAPP group was lower than that in the TFHR group(4.76％vs 18.60％)(P＜0.05);there was no recurrence within 6 months after surgery in both groups.Conclusion The application of TAPP and open TFHR in the treatment of inguinal hernia has good results,and there is no influence on testicular function.However,compared to open TFHR,TAPP has lower intraoperative blood loss,lower postoperative pain and complications,and shorter recovery time.

Objective To compare the efficacy and safety of laparoscopic transabdominal preperitoneal mesh hernia repair(TAPP)and tension-free hernia repair(TFHR)in the treatment of inguinal hernia.Methods From January 2021 to June 2023,85 patients with inguinal hernia were treated in our hospital.They were grouped into TAPP group(n=42,with TAPP)and TFHR group(n=43,with open TFHR)based on the different surgical procedures.The surgical indicators,postoperative pain,serum testosterone levels of male,incidence of postoperative complications,and recurrence rate were compared between two groups.Results Intraoperative blood loss,postoperative exhaust time,and hospital stay in the TAPP group were lower than those in the TFHR group(P＜0.05);there was a difference in postoperative numerical rating scale(NRS)scores between two groups(P＜0.05),postoperative NRS scores in each group gradually decreased over time(P＜0.05),and there was an interaction among groups and time(P＜0.05),among them,TAPP group had lower scores than TFHR group at 12,24,and 48 hours after surgery(P＜0.05);one month after surgery,there were no difference in serum testosterone levels between the two groups compared before surgery(P＞0.05),and there was no difference between the two groups(P＞0.05);the incidence of postoperative complications in the TAPP group was lower than that in the TFHR group(4.76％vs 18.60％)(P＜0.05);there was no recurrence within 6 months after surgery in both groups.Conclusion The application of TAPP and open TFHR in the treatment of inguinal hernia has good results,and there is no influence on testicular function.However,compared to open TFHR,TAPP has lower intraoperative blood loss,lower postoperative pain and complications,and shorter recovery time.

Objective:To evaluate the clinical efficacy of Tianma Xionglin Zhixuan Tablets in treating hypertension patients with liver yang hyperactivity or comorbid phlegm-stasis syndrome and explore its therapeutic mechanisms through plasma metabolomics.Methods:Thirty-six hypertension patients(4 dropouts)diagnosed with liver yang hyperactivity or phlegm-stasis syndrome were enrolled as the treatment group from June 2022 to September 2023 at the First Affiliated Hospital of Hunan University of Chinese Medicine,while 30 healthy volunteers with balanced constitutions were recruited as the blank group.Plasma samples were collected from patients pre-and post-treatment and from healthy volunteers.Clinical outcomes,including syndrome scores,office blood pressure(BP),and 24-hour ambulatory BP,were recorded.Plasma metabolomic profiling was performed using liquid chromatography-mass spectrometry(LC-MS).Results:Compared with baseline,Tianma Xionglin Zhixuan Tablets significantly reduced traditional Chinese medicine syndrome scores(P＜0.01),office systolic/diastolic BP(P＜0.01),and 24-hour ambulatory BP parameters(24-hour mean BP,daytime/nighttime mean BP;all P＜0.01).Metabolomic analysis identified 45 differential metabolites between the blank group and pretreatment patients,and 64 metabolites altered post-treatment(VIP＞1,P＜0.05).Enrichment analysis of 16 overlapping endogenous metabolites revealed that Tianma Xionglin Zhixuan Tablets primarily modulated arachidonic acid metabolism and sphingolipid metabolism pathways.Conclusion:Tianma Xionglin Zhixuan Tablets demonstrates significant clinical efficacy in hypertension patients with liver yang hyperactivity or phlegm-stasis syndrome,potentially mediated through regulation of arachidonic acid and sphingolipid metabolism.

Objective To develop dynamic prediction models based on multiple postnatal time points to support early diagnosis and individualized intervention for bronchopulmonary dysplasia(BPD)in preterm infants with gestational age<32 weeks.Methods Clinical data of 472 preterm infants with gestational age<32 weeks admitted to the Second Xiangya Hospital of Central South University between January 2016 and November 2020 were retrospectively analyzed.Multivariable logistic regression was applied to develop five independent prediction models at postnatal days 1,7,14,21,and 28.The performance of the models was assessed using the area under the receiver operating characteristic curve(AUC)and the Hosmer-Lemeshow test.Results Baseline characteristics such as gestational age and birth weight differed significantly between the BPD group(n=147)and the non-BPD group(n=325)(P<0.05).Predictors of BPD evolved across time points:on day 1,key predictors included gestational age,birth weight,Score for Neonatal Acute Physiology II(SNAP-II),invasive mechanical ventilation,and fraction of inspired oxygen>30%;by day 7,additional variables emerged,including fasting duration>2 days,mean feeding advancement rate<8.5 mL/(kg·d),neonatal respiratory distress syndrome,apnea of prematurity,and positive sputum culture;from day 14 onward,nutrition-and treatment-related indicators were incorporated additionally.The models demonstrated good discrimination at postnatal days 1,7,14,21,and 28,with AUCs of 0.917,0.927,0.939,0.944,and 0.968,respectively,and good calibration(Hosmer-Lemeshow P>0.05).Internal validation showed AUCs ranging from 0.899 to 0.958,indicating robust performance.Conclusions Dynamic postnatal prediction models incorporating indicators spanning perinatal factors,respiratory support,nutritional management,and therapeutic interventions demonstrate high predictive performance and facilitate dynamic risk assessment for BPD in preterm infants with gestational age<32 weeks.