Objective To investigate the influencing factors for low anterior resection syndrome(LARS)at one year after ileostomy reversal in patients who have undergone radical resection for rectal cancer,and to inform clinical interventions.Methods A retrospective cohort study was conducted on 312 patients who successfully underwent ileostomy reversal after radical resection for rectal cancer between January 2023 and January 2024 at 3 tertiary hospitals in Chongqing.Based on LARS scores at 1-year after stoma reversal,they were divided into a LARS group(score≥21)and a non-LARS group(score≤20).Clinical data were collected from the medical record system,including age,body mass index(BMI),sex,tumor size,tumor distance from the anal verge,T stage,N stage,date of low anterior resection,neoadjuvant therapy,postoperative chemotherapy,anastomotic leakage,and date of ileostomy reversal.Univariate analysis was used to screen potential influencing factors,and variables with P<0.2 were included in a multivariate logistic regression model.Binary stepwise regression analysis was applied to further analyze significant influencing factors for LARS at 1 year after ileostomy reversal.Results In the cohort,there were 127 patients assigned into the LARS group and 185 into the non-LARS group.The incidence of LARS at 1 year after ileostomy reversal was 40.70%,with mild cases accounting for 21.79%and severe ones for 18.91%,and a mean LARS score of 14.52±11.64.Multivariate logistic regression analysis showed that neoadjuvant therapy(yes vs no:OR=1.830,95%CI:1.088～3.089;P=0.023),tumor distance from anal verge≤5 cm(vs>5 cm:OR=2.044,95%CI:1.249～3.374;P=0.005),occurrence of anastomotic leakage(yes vs no:OR=7.470,95%CI:2.247～34.102;P=0.003),time to reversal(≥181 d vs 91～180 d:OR=2.297,95%CI:1.363～3.917;P=0.002),and N stage(N1～N2 vs N0:OR=1.650,95%CI:1.009～2.717;P=0.047)were significant influencing factors for LARS at 1 year after ileostomy reversal.Conclusion Our results suggest that anastomotic leakage,time to reversal≥181 d,tumor distance from anal verge≤5 cm,neoadjuvant therapy,and N stage N1～N2 are associated with the occurrence of LARS at 1 year after ileostomy reversal in patients following radical resection of rectal cancer.Clinical healthcare providers should implement early intervention and long-term follow-up for patients with high-risk factors both before and after stoma reversal.

Metastasis serves as an indicator of malignancy and is a biological characteristic of carcinomas. Epithelial-mesenchymal transition (EMT) plays a key role in the promotion of tumor invasion and metastasis and in the enhancement of tumor cell aggressiveness. Prostaglandin E synthase 3 (p23) is a cochaperone for heat shock protein 90 (HSP90). Our previous study showed that p23 is an HSP90-independent transcription factor in cancer-associated inflammation. The effect and mechanism of action of p23 on lung cancer metastasis are tested in this study. By utilizing cell models in vitro and mouse tail vein metastasis models in vivo, the results provide solid evidence that p23 is critical for promoting lung cancer metastases by regulating downstream CXCL1 expression. Rather than acting independently, p23 forms a complex with RNA-binding motif protein 14 (RBM14) to facilitate EMT progression in lung cancer. Therefore, our study provides evidence for the potential role of the RBM14-p23-CXCL1-EMT axis in the metastasis of lung cancer.

With the rapid development of minimally invasive techniques in surgery, arti-ficial intelligence (AI), particularly deep learning, is playing an increasingly important role in mini-mally invasive surgery. By automated analysis of surgical videos, AI can efficiently perform key tasks such as instrument recognition, surgical phase identification, action analysis, anatomical structure recognition, intraoperative diagnosis, adverse event monitoring and smart desmoking. These appli-cations provide essential support for real-time monitoring, surgical navigation and skill assessment during surgery. The authors summarize the current research progress of AI in minimally invasive surgery, including its applications in the fields of hepatobiliary and pancreatic surgery, as well as gastrointestinal surgery. It also explores the potential of AI in enhancing surgical safety, efficiency and skill assessment. By synthesizing the latest research achievements of AI technology in the field of surgery, as well as analyzing its technical challenges and risks, it aims to provide guidance for future innovations and clinical applications, promoting the advancement and implementation of AI in minimally invasive surgery.

Objective:To explore the diagnostic value of transcranial magnetic stimulation (TMS), transsacral magnetic root stimulation combined with sacral reflexes, external anal sphincter electromyography and pudendal nerve somatosensory evoked potentials in the assessment of neurogenic lower urinary tract dysfunction (NLUTD).Methods:Twenty-one NLUTD patients (1 with a supra-pontine lesion, 5 with a spinal cord injury, 5 with a cauda equina injury, and 10 with pelvic floor disorders) were enrolled. Needle electromyography (EMG) was used to record TMS-induced and transsacral magnetic stimulation-induced motor evoked potentials (tc-MEPs and ts-MEPs, respectively) related to the external anal sphincter (EAS). The dorsal nerve of the penis or clitoris was stimulated electrically to record the latency of the sacral reflex related to the EAS. Central motor conduction time (CMCT) and the tc/ts-MEP latency ratio were calculated to distinguish central from peripheral lesions.Results:In the one patient with a supra-pontine lesion, although the tc-MEP and ts-MEP latencies were within normal limits, the CMCT was prolonged (28.2ms) and the tc/ts-MEP ratio was large (7.4). Among the five patients with a spinal cord injury, one exhibited prolonged tc-MEP latency (50.6ms) and CMCT (47.8ms), along with a large tc/ts-MEP ratio (18.1). In the five patients with cauda equina injury and the ten with NLUTD secondary to pelvic floor disorders, CMCT was within the normal range [averaging (22.9±4.9ms) and (24.2±3.5ms), respectively], but the ts-MEP latency was prolonged [(7.1±2.1ms) and (8.6±3.7ms), respectively], and the tc/ts-MEP ratio was small [(4.4±0.9) and (4.3±1.5), respectively]. The tc/ts-MEP ratio demonstrated the best rate of abnormality detection (93.8%), with an area under the curve of 0.99, indicating good sensitivity.Conclusions:The tc/ts-MEP ratio can be useful for distinguishing central and peripheral lesions. A markedly increased tc/ts-MEP ratio may suggest central nervous system injury, whereas a decreased ratio may indicate peripheral nervous system injury.

Objective:To investigate the clinical characteristics and genetic etiology of a child with Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) and epilepsy due to a TUBG1 gene variant. Methods:A child diagnosed with CDCBM4 and epilepsy at the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in May 2024 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral venous blood samples were collected from the child and her parents for genomic DNA extraction. Trio-based whole-exome sequencing (WES) was performed, and candidate variants were validated by Sanger sequencing. According to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG), candidate variants were classified for pathogenicity. This study was approved by the Medical Ethics Committee of the Affiliated Hospital of Guangdong Medical University (Ethics No.: PJ2021-097).Results:The child, a 4-month-old female infant, had no special facial features, normal limb muscle strength, and increased muscle tone of infantile onset, with generalized tonic-clonic seizures as the main manifestation. During seizures, she exhibited head retroflexion, tightly closed eyes, and tonic convulsions of the limbs, occurring approximately 2-3 times per day. Electroencephalogram suggested bilateral anterior predominant medium-to-high amplitude 7-8 Hz mixed rhythm discharges. Head MRI revealed ventricular system dilatation and pachygyria. Trio-WES results indicated that the child has harbored a TUBG1 gene variant of c. 776C>T (p.Ser259Leu). Sanger sequencing verification showed that neither of her parents had carried the same variant, confirming it as de novo in origin. According to the ACMG guidelines, the variant was rated as pathogenic (PS2+ PS3+ PM2_Supporting+ PP3). Combining the child′s clinical phenotype, the child was diagnosed as CDCBM4 with epilepsy. Conclusion:Children with CDCBM4 and epilepsy due to TUBG1 gene variants may show pachygyria or agyria and commonly present with intellectual and motor developmental delays and seizure disorders of variable severity. The heterozygous TUBG1 c. 776C>T (p.Ser259Leu) variant is likely the genetic etiology underlying this disorder. The results of this study has expanded the mutational spectrum of the TUBG1 gene associated with CDCBM4 and epilepsy.

OBJECTIVE: To investigate the clinical characteristics and genetic etiology of a child with Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) and epilepsy due to a TUBG1 gene variant. METHODS: A child diagnosed with CDCBM4 and epilepsy at the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in May 2024 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral venous blood samples were collected from the child and her parents for genomic DNA extraction. Trio-based whole-exome sequencing (WES) was performed, and candidate variants were validated by Sanger sequencing. According to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG), candidate variants were classified for pathogenicity. This study was approved by the Medical Ethics Committee of the Affiliated Hospital of Guangdong Medical University (Ethics No.: PJ2021-097). RESULTS: The child, a 4-month-old female infant, had no special facial features, normal limb muscle strength, and increased muscle tone of infantile onset, with generalized tonic-clonic seizures as the main manifestation. During seizures, she exhibited head retroflexion, tightly closed eyes, and tonic convulsions of the limbs, occurring approximately 2-3 times per day. Electroencephalogram suggested bilateral anterior predominant medium-to-high amplitude 7-8 Hz mixed rhythm discharges. Head MRI revealed ventricular system dilatation and pachygyria. Trio-WES results indicated that the child has harbored a TUBG1 gene variant of c.776C>T (p.Ser259Leu). Sanger sequencing verification showed that neither of her parents had carried the same variant, confirming it as de novo in origin. According to the ACMG guidelines, the variant was rated as pathogenic (PS2+PS3+PM2_Supporting+PP3). Combining the child's clinical phenotype, the child was diagnosed as CDCBM4 with epilepsy. CONCLUSION Children with CDCBM4 and epilepsy due to TUBG1 gene variants may show pachygyria or agyria and commonly present with intellectual and motor developmental delays and seizure disorders of variable severity. The heterozygous TUBG1 c.776C>T (p.Ser259Leu) variant is likely the genetic etiology underlying this disorder. The results of this study has expanded the mutational spectrum of the TUBG1 gene associated with CDCBM4 and epilepsy.
Humans ; Female ; Epilepsy/genetics* ; Malformations of Cortical Development/genetics* ; Infant ; Phenotype ; Exome Sequencing ; Microtubule-Associated Proteins/genetics*

OBJECTIVE: To explore the clinical phenotype and genetic etiology of a child with Ehlers-Danlos syndrome, spondylodysplastic type 2 (EDSSPD2). METHODS: A child who was admitted to the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in July 2024 for "delayed motor development for 1 and a half year" was selected as the study subject. Clinical data of the child was collected, including medical history, family history, and results of auxiliary examinations. Peripheral venous blood samples were collected from the child and his two brothers and both parents. Genomic DNA was extracted from the child and his family members and subjected to whole-exome sequencing (WES) and copy number variation (CNV) analysis. Sanger sequencing was used to verify the parental origin of the candidate variants. Multiple protein function prediction software tools, including SIFT, PolyPhen-2, and REVEL, were used to assess the impact of candidate variants on the protein function. Based on protein database information from UniProt, a two dimensional structural schematic of the target protein was generated. The pathogenicity of the variants was classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Relevant literature on the B3GALT6 gene variants leading to EDSSPD2 was retrieved from CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases. The procedures followed in this study were reviewed and approved by the Medical Ethics Committee of Affiliated Hospital of Guangdong Medical University (Ethics No.：PJ2021-097). RESULTS: The proband was a 2-year-old male with an onset in infancy. The main clinical manifestations included loose skin, scoliosis and kyphosis, generalized hypermobility of joints, and motor developmental delay. WES has revealed two compound heterozygous variants of the B3GALT6 gene (NM_080605.4): c.766C>T (p.Arg256Trp) and c.962G>A (p.Cys321Tyr). Sanger sequencing verification showed that the c.766C>T and c.962G>A variants were respectively derived from his phenotypically normal father and mother. Bioinformatics analysis showed that for the c.766C>T (p.Arg256Trp) variant, the Arg256 site is located within the galactosyltransferase catalytic domain (GalT domain) of the β3GalT6 protein. According to the ACMG guidelines, the c.766C>T variant was classified as a likely pathogenic (PS3+PM2_supporting+PM3+PP3), and the c.962G>A was classified as a variant of unknown significance (PM2_Supporting+PM3+PP3). By following the pre-set literature retrieval strategy, a total of 12 articles related to B3GALT6 gene variants were identified (11 English and 1 Chinese), which involved a total of 71 patients. Among these, 4 reports (involving 20 patients) involved B3GALT6 gene variants leading to EDSSPD2. Among the 18 live-born EDSSPD2 patients (including the proband in this study), common clinical manifestations have included scoliosis (88.9%, 16/18), generalized hypotonia (83.3%, 15/18), and soft and lax skin (66.7%, 12/18). Some patients already showed skeletal abnormalities on prenatal ultrasound scan (22.2%, 4/18), while a few presented with cervical instability (16.7%, 3/18). One child had deceased at 18 months of age due to hypoxia caused by tracheomalacia and tracheal compression due to scoliosis. Among the 23 reported EDSSPD2 related B3GALT6 variant sites, missense variants were the most common (78.3%, 18/23), followed by nonsense variants (21.7%, 5/23). CONCLUSION Above finding has enriched the clinical and mutational spectra of EDSSPD2. Early genetic testing has important clinical value for the diagnosis, differential diagnosis, and genetic counseling of this disease.
Humans ; Male ; Ehlers-Danlos Syndrome/genetics* ; Pedigree ; N-Acetylgalactosaminyltransferases/genetics* ; Asian People/genetics* ; DNA Copy Number Variations ; Exome Sequencing ; Female ; Child ; Child, Preschool ; Phenotype ; Mutation ; China ; East Asian People ; Galactosyltransferases

BACKGROUND:In the follow-up after unicompartmental knee arthroplasty,some patients have knee pain,among which postmenopausal obese women are the most common. As an important index to measure the degree of body obesity,whether body mass index is related to the curative effect after unicompartmental knee arthroplasty and whether obesity will affect the function of knee joint after operation are worthy of further study.OBJECTIVE:To evaluate the clinical efficacy of postmenopausal obese women undergoing medial unicompartmental knee arthroplasty,and to determine the influence of body mass index on the quality of life after unicompartmental knee arthroplasty.METHODS:Female postmenopausal patients who underwent medial unicompartmental knee arthroplasty for the first time due to medial knee pain from January 2017 to January 2019 in the Fourth Clinical Medical College of Xinjiang Medical University were enrolled. A total of 270 cases were included according to inclusion and exclusion criteria,and were divided into 4 groups according to preoperative body mass index:There were 42 cases in normal group (body mass index 18.5-22.9 kg/m2),58 cases in overweight group (body mass index 23.0-24.9 kg/m2),122 cases in obese group (body mass index 25.0-29.9 kg/m2),and 48 cases in severely obese group (body mass index ≥30 kg/m2). Hospital for Special Surgery score,Western Ontario and McMaster Universities Osteoarthritis Index score,knee range of motion,visual analog scale score,and hip-knee-ankle angle were compared before,after and at the last time in each group. Patients were followed up to record the time of use of prostheses after surgery and reasons for failure or revision. The effective utilization rate of prostheses was calculated and compared in each group. Survival curve was used for statistical analysis of the effective utilization rate of prostheses.RESULTS AND CONCLUSION:(1) There was no significant difference in postoperative follow-up time,knee joint range of motion,visual analog scale score,and hip-knee-ankle angle between the groups (P>0.05). (2) The Hospital for Special Surgery score and Western Ontario and McMaster Universities Osteoarthritis Index score of each group in final follow-up were significantly improved compared with those before surgery (P<0.05),and the postoperative effect was obvious in each group (P<0.05). Regarding Hospital for Special Surgery score,the improvement effect was worse in the severely obese group. (3) The comparison of hip-knee-ankle angle between all groups immediately after surgery and the last follow-up showed that there were significant differences between the other groups at two time points (P<0.05) except the normal group (P>0.05). (4) The effective utilization rate of prosthesis in normal,overweight,obesity,and severely obese groups was 100％,95％,94％,and 94％,respectively,and there was no significant difference between the groups (x2=2.532,P=0.469). (5) It is indicated that body mass index of postmenopausal obese women had no significant effect on the effective utilization rate of medial unicompartmental prosthesis. Obesity is an important factor affecting the postoperative knee function score and the effective utilization rate of prosthesis.Weight should be properly controlled before and after unicompartmental knee arthroplasty. At the same time,female body mass index ≥ 30 kg/m2 is not the best indication for unicompartmental knee arthroplasty. It is suggested that female patients undergoing unicompartmental knee arthroplasty should controlbody mass index below 30 kg/m2.

Objective This study aims to develop and evaluate an emergency medical information management system for the medical rescue of mass casualties in public health emergencies at civil airports,focusing on on-site triage and emergency treatment.Methods A retrospective analysis was conducted to compare the effects of on-site emergency drills for mass-casualty rescue in public health emergencies at the Guangzhou Baiyun International Airport Emergency Center in 2018 and 2024.The 2018 drills involving 21 casualties for which conventional emergency medical rescue equipment and procedures were utilized were set as a control group,while the 2024 drills involving 19 casualties for which an emergency medical information processing system were set as an experimental group.Data were analyzed using descriptive epidemiology,chi-square test,and t-test in terms of in-jury conditions,triage time,and total transfer and handover time.By integrating the entire process and all elements to achieve in-formation-based handling in the practical emergency medical rescue drills,the role and advantages of the emergency medical in-formation processing system in scientific command,rapid response,rapid triage,and emergency treatment for mass casualties in public health emergencies were examined.Results The two drills had no difference in the number of casualties(x2=0.054,P=0.973).The time spent on casualty triage and the total time for transfer and handover in 2024 were significantly reduced com-pared with those in 2018(t′=18.992,14.787,both P＜0.001).Conclusion The emergency medical information management system enhances the command,response capabilities and rescue efficiency and level of emergency medical rescue of mass casual-ties in public health emergencies at civil airports.It has promoted the informatization,digitalization and intelligence construction of emergency medical rescue for public health emergencies at civil airports in China,thereby offering a reference for optimizing the informatization model of emergency medical rescue at civil airports in China.

BACKGROUND:In the follow-up after unicompartmental knee arthroplasty,some patients have knee pain,among which postmenopausal obese women are the most common. As an important index to measure the degree of body obesity,whether body mass index is related to the curative effect after unicompartmental knee arthroplasty and whether obesity will affect the function of knee joint after operation are worthy of further study.OBJECTIVE:To evaluate the clinical efficacy of postmenopausal obese women undergoing medial unicompartmental knee arthroplasty,and to determine the influence of body mass index on the quality of life after unicompartmental knee arthroplasty.METHODS:Female postmenopausal patients who underwent medial unicompartmental knee arthroplasty for the first time due to medial knee pain from January 2017 to January 2019 in the Fourth Clinical Medical College of Xinjiang Medical University were enrolled. A total of 270 cases were included according to inclusion and exclusion criteria,and were divided into 4 groups according to preoperative body mass index:There were 42 cases in normal group (body mass index 18.5-22.9 kg/m2),58 cases in overweight group (body mass index 23.0-24.9 kg/m2),122 cases in obese group (body mass index 25.0-29.9 kg/m2),and 48 cases in severely obese group (body mass index ≥30 kg/m2). Hospital for Special Surgery score,Western Ontario and McMaster Universities Osteoarthritis Index score,knee range of motion,visual analog scale score,and hip-knee-ankle angle were compared before,after and at the last time in each group. Patients were followed up to record the time of use of prostheses after surgery and reasons for failure or revision. The effective utilization rate of prostheses was calculated and compared in each group. Survival curve was used for statistical analysis of the effective utilization rate of prostheses.RESULTS AND CONCLUSION:(1) There was no significant difference in postoperative follow-up time,knee joint range of motion,visual analog scale score,and hip-knee-ankle angle between the groups (P>0.05). (2) The Hospital for Special Surgery score and Western Ontario and McMaster Universities Osteoarthritis Index score of each group in final follow-up were significantly improved compared with those before surgery (P<0.05),and the postoperative effect was obvious in each group (P<0.05). Regarding Hospital for Special Surgery score,the improvement effect was worse in the severely obese group. (3) The comparison of hip-knee-ankle angle between all groups immediately after surgery and the last follow-up showed that there were significant differences between the other groups at two time points (P<0.05) except the normal group (P>0.05). (4) The effective utilization rate of prosthesis in normal,overweight,obesity,and severely obese groups was 100％,95％,94％,and 94％,respectively,and there was no significant difference between the groups (x2=2.532,P=0.469). (5) It is indicated that body mass index of postmenopausal obese women had no significant effect on the effective utilization rate of medial unicompartmental prosthesis. Obesity is an important factor affecting the postoperative knee function score and the effective utilization rate of prosthesis.Weight should be properly controlled before and after unicompartmental knee arthroplasty. At the same time,female body mass index ≥ 30 kg/m2 is not the best indication for unicompartmental knee arthroplasty. It is suggested that female patients undergoing unicompartmental knee arthroplasty should controlbody mass index below 30 kg/m2.