Background and Aims:Portal hypertensive colopathy(PHC)is a common complication of portal hypertension in patients with liver cirrhosis.It may lead to gastrointestinal bleeding,yet its underlying pathogenesis remains unclear,and systematic research in China is limited.This study aimed to analyze the colonoscopic features in cirrhotic patients and to explore their associations with relevant clinical factors.Methods:A retrospective analysis was conducted on 99 cirrhotic patients who underwent colonoscopy at Xingtai People's Hospital between July 2020 and December 2024.Colonoscopy,gastroscopy,and clinical data were reviewed.Differences between patients with PHC and those without were compared in terms of sex,Child-Pugh classification,platelet count,presence of ascites,and hepatic encephalopathy.Multivariate logistic regression was used to identify independent risk factors for PHC.Additionally,colorectal lesion detection rates were compared with those of a contemporaneous cohort of 444 participants undergoing national colorectal cancer(CRC)screening at the same center.Results:Among the 105 patients with cirrhosis,the detection rates of PHC,adenomatous polyps,and CRC were 32.32%,28.28%,and 3.03%,respectively,while only 37.37%had no abnormal findings.No serious colonoscopy-related complications were observed.The proportion of males in the PHC group was significantly higher than in the non-PHC group(78.13%vs.50.75%,P=0.009).The PHC group also showed significantly higher rates of Child-Pugh class B/C,and lower platelet count(all P<0.05).There was no statistically significant difference in the incidence of ascites and hepatic encephalopathy between the two groups(P>0.05).Multivariate analysis identified that male gender(OR=3.307,95%CI=1.219-8.971)and Child-Pugh class B/C(OR=2.867,95%CI=1.046-7.861)were independent risk factors for PHC.Compared to the CRC screening cohort,cirrhotic patients had a similar adenoma detection rate(28.28%vs.25.00%,P=0.499),and a slightly higher colorectal cancer detection rate that did not reach statistical significance(3.03%vs.0.68%,P=0.135).Conclusion:Colonoscopy revealed a high rate of abnormalities in cirrhotic patients,with PHC and adenomatous polyps being the most common findings.Routine colonoscopy is recommended for cirrhotic patients without contraindications,especially males,and patients with Child-Pugh class B/C,to facilitate early detection of PHC and precancerous lesions,thereby reducing the risk of lower gastrointestinal bleeding and missed diagnoses of malignancy.

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX). METHODS: A pedigree presented at the First Hospital of Lanzhou University for CVDPX combined with CIIX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15). RESULTS: Both the proband and his affected younger brother were found to harbor a hemizygous c.443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded in the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+PS4+PP2+PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. CONCLUSION This study confirmed the diagnosis of CVDPX/CIIX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.
Adult ; Female ; Humans ; Male ; Exome Sequencing ; Filamins/genetics* ; Genetic Diseases, X-Linked/genetics* ; Heart Defects, Congenital/genetics* ; Heart Valve Diseases/genetics* ; Pedigree ; East Asian People/genetics*

OBJECTIVE: To explore the mechanism and clinical manifestations of a case with complex structural variations involving chromosomes 5, 7, and 14, and assess the value of Chromosome conformation-based karyotyping (C-MoKa) for its diagnosis. METHODS: Two half-sibs by the same father presented at the First Hospital of Lanzhou University in December 2024 for severe multi-system abnormalities were selected as study subjects. Peripheral blood samples from the their parents were subjected to conventional chromosomal karyotyping analysis. The father was further analyzed using C-MoKa, while both siblings underwent copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-05). RESULTS: Conventional karyotype analysis indicated that the father has a karyotype of 46,XY,add(5)(p15.3). CNV-seq identified multiple chromosomal abnormalities in both siblings, including duplications and deletions of chromosomes 14 and 5. C-MoKa analysis further revealed a complex chromosomal structural variation involving chromosomes 5, 7, and 14 in the father. These variations were closely associated with the severe phenotypes noted in both children. CONCLUSION Complex chromosomal structural variations can lead to multi-system abnormalities and significantly impact reproductive health. Compared to conventional karyotyping, the C-MoKa technique has shown significant advantage in identifying such complex rearrangements. The combined application of multiple techniques can improve the accuracy of diagnosis, enabling genetic counseling for carriers to reduce their risk for producing further affected offspring.
Female ; Humans ; Male ; China ; Chromosome Aberrations ; DNA Copy Number Variations/genetics* ; Karyotyping ; Pedigree ; East Asian People/genetics*

Objective:To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and chronic idiopathic intestinal pseudo-obstruction (CIIPX).Methods:A pedigree presented at the First Hospital of Lanzhou University in June 2024 for CVDPX combined with CIIPX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15).Results:Both the proband and his affected younger brother were found to harbor a hemizygous c. 443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded by the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+ PS4+ PP2+ PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. Conclusion:This study confirmed the diagnosis of CVDPX/CIIPX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.

Background and Aims:Portal hypertensive colopathy(PHC)is a common complication of portal hypertension in patients with liver cirrhosis.It may lead to gastrointestinal bleeding,yet its underlying pathogenesis remains unclear,and systematic research in China is limited.This study aimed to analyze the colonoscopic features in cirrhotic patients and to explore their associations with relevant clinical factors.Methods:A retrospective analysis was conducted on 99 cirrhotic patients who underwent colonoscopy at Xingtai People's Hospital between July 2020 and December 2024.Colonoscopy,gastroscopy,and clinical data were reviewed.Differences between patients with PHC and those without were compared in terms of sex,Child-Pugh classification,platelet count,presence of ascites,and hepatic encephalopathy.Multivariate logistic regression was used to identify independent risk factors for PHC.Additionally,colorectal lesion detection rates were compared with those of a contemporaneous cohort of 444 participants undergoing national colorectal cancer(CRC)screening at the same center.Results:Among the 105 patients with cirrhosis,the detection rates of PHC,adenomatous polyps,and CRC were 32.32%,28.28%,and 3.03%,respectively,while only 37.37%had no abnormal findings.No serious colonoscopy-related complications were observed.The proportion of males in the PHC group was significantly higher than in the non-PHC group(78.13%vs.50.75%,P=0.009).The PHC group also showed significantly higher rates of Child-Pugh class B/C,and lower platelet count(all P<0.05).There was no statistically significant difference in the incidence of ascites and hepatic encephalopathy between the two groups(P>0.05).Multivariate analysis identified that male gender(OR=3.307,95%CI=1.219-8.971)and Child-Pugh class B/C(OR=2.867,95%CI=1.046-7.861)were independent risk factors for PHC.Compared to the CRC screening cohort,cirrhotic patients had a similar adenoma detection rate(28.28%vs.25.00%,P=0.499),and a slightly higher colorectal cancer detection rate that did not reach statistical significance(3.03%vs.0.68%,P=0.135).Conclusion:Colonoscopy revealed a high rate of abnormalities in cirrhotic patients,with PHC and adenomatous polyps being the most common findings.Routine colonoscopy is recommended for cirrhotic patients without contraindications,especially males,and patients with Child-Pugh class B/C,to facilitate early detection of PHC and precancerous lesions,thereby reducing the risk of lower gastrointestinal bleeding and missed diagnoses of malignancy.

Objective:To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and chronic idiopathic intestinal pseudo-obstruction (CIIPX).Methods:A pedigree presented at the First Hospital of Lanzhou University in June 2024 for CVDPX combined with CIIPX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15).Results:Both the proband and his affected younger brother were found to harbor a hemizygous c. 443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded by the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+ PS4+ PP2+ PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. Conclusion:This study confirmed the diagnosis of CVDPX/CIIPX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.

Objective To investigate the efficacy and safety of hybrid surgery for the recanalization of carotid artery occlusion after stenting.Methods Clinical data and results of 17 patients with occlusion after carotid artery stenting and treated with hybrid surgery from June 2016 to April 2023 at the Department of Neurosurgery Cerebral Blood Flow Reconstruction Center of Xuanwu Hospital,Capital Medical University were retrospectively analyzed.According to whether the recanalization was successful,17 patients were divided into the the successful recanalization group and the failed recanalization group.Successful recanalization was defined as achieving modified thrombolysis in cerebral infarction(mTICI)grade ≥2b and residual stenosis＜50％.Baseline data(age,sex,body mass index,smoking history,alcohol consumption history,hypertension history,diabetes history,hyperlipidemia history,coronary heart disease history),clinical data(National Institutes of Health Stroke Scale[NIHSS]score at admission,fasting blood glucose,low density lipoprotein,high density lipoprotein,total cholesterol,triglyceride,occlusion side and segment,combination with severe stenosis or occlusion of the contralateral carotid artery,opening of the anterior communicating artery,opening of the posterior communicating artery,compensation of the external and internal carotid artery,compensation of the pia artery,stump morphology,and time from imaging diagnosis of occlusion to recanalization)were documented and compared between groups.The recanalization of occlusive vessels and perioperative complications were recorded.Imaging and clinical follow-up were performed 3,6 months and≥1 year after surgery.Results Among the 17 patients,the ratio of successful recanalization was 13/17.One patient had re-occlusion after operation,which was re-opened after thrombolysis,but neck hematoma with dyspnea occurred,and recovered after emergency operation.There was no postoperative stroke or death.The incidence of perioperative complications was 1/17.Compared with the successful recanalization group,the levels of high density lipoprotein and total cholesterol in the failed recanalization group were higher,and the differences between the groups were statistically significant(high density lipoprotein[1.3±0.3]mmol/L vs.[0.9±0.3]mmol/L,t=-2.139;total cholesterol:[4.2±0.8]mmol/L vs.[3.1±0.7]mmol/L,t=-2.649;both P＜0.05);There were no significant differences in other baseline data and clinical data(all P＞0.05).Imaging follow-up was completed in 9 of the 13 patients in the successful recanalization group,and the follow-up time was 3.8-36.9 months,with a median follow-up time of 22.8(12.8,34.7)months.Among them,1 patient(1/9)developed restenosis of recanalization vessels at 33.0 months after surgery and underwent stent implantation again.Conclusions The preliminary analysis showed that the occlusion after carotid artery stenting had better recanalization success and lower perioperative complications.In patients with chronic occlusion after carotid stenting,the application of a hybrid surgery for opening may be attempted under multimodal imaging assessment.

ObjectiveTo investigate the immediate effect of wearing a soft ankle brace on dynamic and static balance function and biomechanics of affected lower limbs during walking in chronic ankle instability (CAI) patients. MethodsFrom January to August, 2021, 40 CAI patients from Musculoskeletal Rehabilitation Center, Beijing Rehabilitation Hospital, Capital Medical University were measured dynamic and static balance indexes with Zebris FDM-System and Y balance test, before and after wearing a soft ankle brace; while the kinetics indexes and surface electromyography of the affected lower extremities during walking were collected with Zebris FDM-System and a surface electromyography telemeter simultaneously. ResultsThe velocity and area of center of pressure reduced in both open and closed eye modes (|t| > 2.876, P < 0.01), the Y-balance scores increased in all the directions (|t| > 21.212, P < 0.001) after wearing brace; while the peak pressures and impulses increased in the midfoot and medial forefoot regions (|t| > 2.057, P < 0.05), and decreased in the lateral heel, lateral forefoot and toe regions (|t| > 2.464, P < 0.05), and the root mean square of surface electromyography increased in the tibialis anterior and lateral gastrocnemius (|t| > 2.159, P < 0.05) during walking. ConclusionWearing soft brace can immediately improve dynamic and static balance of CAI patients, and optimize plantar kinetic distribution and enhance activation of the anterior tibial and the lateral head of gastrocnemius of the affected limb during walking, to improve motor control of CAI patients.

OBJECTIVE: To explore the association of workplace loneliness, job burnout and conscientiousness in teachers of special education. METHODS: A total of 344 teachers of special education from Guangxi Zhuang Autonomous Region were selected as study subjects by judgment sampling method. The questionnaires of Workplace Loneliness Scale, Maslach Burnout Inventory and Conscientiousness Scale of Big Five Inventory were used to conduct the survey. The mediating role of job burnout in workplace loneliness and conscientiousness was analyzed. RESULTS: The total score of workplace loneliness was 32.6±8.3. The median total score of job burnout and conscientiousness was 31.0 and 30.6 respectively. Partial correlation analysis showed that the dimensions of job burnout were positively correlated with the total score of workplace loneliness and all its dimension scores, and negatively correlated with conscientiousness score(P<0.01). The degree of explanation for the change of workplace loneliness and job burnout on conscientiousness were 9.0% and 17.0% respectively. CONCLUSION: Job burnout plays a partial mediating role in workplace loneliness and conscientiousness in teachers of special education. Reducing workplace loneliness and job burnout can help improve the conscientiousness of teachers of special education.

Previous studies have shown that postoperative cognitive dysfunction (POCD) is related to multiple factors including age, postoperative trauma, inflammation, postoperative pain, and anesthesia, among which postoperative pain is thought to play an important role in the development of POCD. This review summarizes the recent findings in the study of the role of postoperative pain in the pathogenesis of POCD in light of nerve injuries, neural remodeling and stress, and the progress in the prevention and treatment of POCD in elderly patients. It is of vital important to assess the postoperative pain and formulate adequate analgesic regimens for effective prevention and management of POCD to protect the brain functions of elderly patients.
Aged ; Cognitive Dysfunction ; etiology ; Humans ; Inflammation ; Pain, Postoperative ; complications ; therapy ; Postoperative Complications