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 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.

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

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.

Objective To evaluate the terminal segment of the intracranial vertebral artery (tICVA) fine and atherosclerotic lesions using high-resolution MRI (HRMRI) in order to guide endovascular interventional therapy.Methods From October 2015 to October 2016,4 patients with bilateral tICVA diagnosed with digital subtraction angiography (DSA) and admitted to Xuanwu Hospital,Capital Medical University were analyzed retrospectively.At the same time,time of flight (TOF) and black blood imaging were used.The bilateral tICVA imaging features in 4 patients were analyzed.Congenital dysplasia of vertebral artery and atherosclerotic lesions were identified.Results DSA revealed that bilateral tICVA fine or occlusion.HRMRI evaluation of the vascular wall structure showed that vascular dysplasia in 4 cases were all located on the right sides,showing no obvious thickening of the wall thickness,and the diameter was less than 1/2 of the contralateral side.One patient had atherosclerotic stenosis on the left and 3 had occlusion,showing local wall thickening,plaque formation,and resulting in the narrowing of the corresponding lumen and even occlusion.Three of the patients were treated with endovascular intervention.Conclusion HRMRI is helpful to differentiate hypoplasia in terminal intracranial vertebral artery and atherosclerotic stenosis or occlusion,identifying the dominant side of the vertebral artery and providing image basis for endovascular treatment of vertebral artery.

Objective To investigate the feasibility and safety of endovascular recanalization of chronic occlusion of large intracranial artery.Methods From January 2009 to January 2017,the clinical and imaging data of 15 patients with chronic occlusion of large intracranial artery admitted to the Department of Interventional Neuroradiology,Xuanwu Hospital,Capital Medical University for endovascular recanalization were analyzed retrospectively.Twelve patients were V4 segment occlusion of vertebral artery and 3 were internal carotid artery occlusion.Preoperative whole brain digital subtraction angiography (DSA) was used to assess the occlusion length and location.High-resolution magnetic resonance imaging (MRI) was used to evaluate the nature of occlusion and the feasibility of recanalization.The intraoperative bilateral femoral artery sheath placement was conducted in 13 cases,one side was used for recanalization and stenting,and the other side was compensated by filling the distal occlusion of the artery through collateral circulation as the reference path map,and increased the feasibility of recanalization.According to the thrombolysis in cerebral infarction (TICI) grades after procedure,the forward flow after recanalization was systematically evaluated,and grade ≥2b was defined as the success of recanalization.Results The median time between the first onset of symptoms and recanalization was 50 (range,18-365) days.The occluded recanalization sites included intracranial segment of vertebral artery in 12 cases and intracranial segment of internal carotid artery in 3 cases.Recanalization was successful in 13 cases and recanalization failure of the intracranial segment of vertebral artery was in 2 cases.Recanalization was successful in 13 cases,and intracranial vertebral artery recanalization failed in 2 cases.Of the 13 patients of successful recanalization,the forward flow of angiography returned to grade TICI 3 in 12 cases after recanalization,and returned to TICI 2b in 1 case;the symptoms of 7 cases were improved,the symptoms of 4 cases did not have any change,and the symptoms of 2 patients aggravated after procedure and developed transient ischemic attack or stroke.After 11 patients were followed up for a median of 39 (3-89) months,the median mRS score was 1 (0-2).Conclusion For recanalization of chronic large intracranial artery occlusion,using preoperative high-resolution magnetic resonance imaging evaluation and intraoperative bilateral sheath placement technique may increase the patency rate and reduce the perioperative complications.

Objective To evaluate the imaging changes of the arterial wall and lumen at the site of intracranial large artery lesions with high-resolution magnetic resonance imaging (HR-MRI) before and after Wingspan stent implantation.Methods From December 2013 to December 2014,9 patients with symptomatic intracranial arterial stenosis (stenosis rate:70%-99%) admitted to the Department of Interventional Neuroradiology,Xuanwu Hospital,Capital Medical University were enrolled retrospectively.The sites of the lesions included middle cerebral arteries,basilar artery,and intracranial segment of vertebral artery.Head 3D HR-MRI technique was used to analyze and compare the changes of the tube-wall enhancement areas in the lesion sites through image registration and matching.The consistency of stenosis rates measured by HR-MRI and DSA was compared through Pearson correlation analysis and Bland-Altman Plot.Results The success rate of technique was 100% without related complications.(1) After Wingspan stent implantation,the gadolinium enhancement in the vascular walls of the stenosis sites was decreased significantly compared with that before procedure.The area of enhancement decreased was 87±16% after stent implantation compared with before implantation,and the difference was statistically significant (t=2.325,P=0.049).(2) Before stent implantation,the mean stenosis rates of the HR-MRI and DSA measurements were 82±6% and 82±8% respectively,and the difference was not statistically significant (t=0.051,P=0.961);after procedure,the mean stenosis rates of HR-MRI and DSA measurements were 16±12% and 21±12% respectively,and the difference was not statistically significant (t=1.345,P=0.216).(3) The Pearson correlation coefficients of HR-MRI and DSA for stenosis rate measurement before and after stent implantation were 0.347 (P=0.361) and 0.545 (P=0.129) respectively.Bland-Altman statistical images showed that most of the data points were within the consistency limit (x-±1.96 s).Conclusions As an in vivo noninvasive imaging means,HR-MRI can be used to assess the changes of vascular walls of the lesion sites,the vascular lumen,and the original plaques after the intracranial stent release.It can also be used to evaluate the reconstruction of intracranial arterial walls.

OBJECTIVE: To investigate the relationship between the severity of allergic asthma and the levels of atrial natriuretic peptide (ANP), and to analyze the potential role of ANP signaling in the pathogenesis of asthma.
 METHODS: We recruited 96 subjects, including 23 healthy volunteers, 25 stable allergic asthmatics, 21 mild allergic asthmatics and 27 moderate allergic asthmatics, from the Affiliated Hospital of Guilin Medical University. ANP, IFN-γ and IL-4 levels in serum were detected by enzyme-linked immunosorbent assay (ELISA), and the mRNA and protein expressions of natriuretic peptide receptor A (NPRA), transcription factor T-bet and GATA3 were measured by RT-PCR and Western blot.
 RESULTS: The levels of ANP in serum and the expressions of NPRA mRNA and protein in the peripheral blood mononuclear cell (PBMC) from the mild asthma group or the moderate group were elevated compared with those in the stable asthma group or the mild group, respectively (P<0.05). Consistently, expressions of GATA3 and levels of IL-4 showed the same tendency (P<0.05). In addition, levels of ANP in serum were positively correlated with the severity of asthma, whereas negatively correlated with the ratio of T-bet/GATA3 and IFN-γ/IL-4 (r=-0.85, P<0.05; r=-0.88, P<0.05, respectively).
 CONCLUSION Levels of ANP signaling in serum were significantly increased with the severity of allergic asthma, suggesting a close relation with the pathogenesis of asthma; ANP signaling may play a role in the pathogenesis of allergic asthma through inducing the Th2-type immune response.
Asthma ; Atrial Natriuretic Factor ; Enzyme-Linked Immunosorbent Assay ; Fetal Proteins ; GATA3 Transcription Factor ; Humans ; Hypersensitivity ; Interleukin-4 ; Leukocytes, Mononuclear ; RNA, Messenger ; Receptors, Atrial Natriuretic Factor ; Signal Transduction ; T-Box Domain Proteins