OBJECTIVE: To investigate the effectiveness of applying a standardized rehabilitation process in correction of adult clubfoot with the Ilizarov technique. METHODS: Thirty-eight adult patients who underwent orthopedic treatment with Ilizarov technique for clubfoot between August 2022 and December 2024 were retrospectively analyzed. The patients were divided into a study group and a control group with 19 cases in each group according to the different rehabilitation management processes and methods. The differences in baseline data such as gender, age, side, and preoperative Holden walking function grading between the two groups were not significant ( P>0.05). In both groups, most of the clubfoot deformities were surgically corrected first, and the residual deformities were corrected by dynamic slow retraction with Ilizarov ring-type external fixation frame. The study group adopted standardized rehabilitation process management mode, including preoperative lower limb muscle strength training, postoperative pain and swelling management, weight-bearing management, gait and lower limb stability training. The control group adopted the conventional postoperative rehabilitation management mode. The occurrence of complications was recorded, including pin tract infection, ankle stiffness and pain, and deformity recurrence. Holden walking function grading was used to evaluate the walking ability of the patients. Clinical efficacy was evaluated by the QIN Sihe Deformity Correction Disability Repair and Functional Reconstruction Postoperative Efficacy Evaluation Scale. Patient satisfaction was evaluated by Likert score. RESULTS: Patients in both groups successfully completed surgery and rehabilitation and were followed up. The follow-up time ranged from 8 to 29 months, with a mean of 18.5 months. Among them, the follow-up time was (18.8±5.5) months in the study group and (18.2±5.7) months in the control group, and the difference between groups was not significant ( t=0.316, P=0.754). The postoperative incidences of pin tract infection, ankle stiffness and pain, and deformity recurrence in the study group were 10.53%, 5.26%, and 5.26%, respectively, and in the control group were 21.05%, 36.84%, and 15.79%, respectively. And the difference between groups in the incidence of ankle stiffness and pain was significant ( P=0.042). At last follow-up, both groups showed an improvement in Holden walking function grading compared to preoperative levels ( P<0.05), and the grading of the study group was significantly higher than that of the control group ( P=0.006). According to the QIN Sihe Deformity Correction Disability Repair and Functional Reconstruction Postoperative Efficacy Evaluation Scale, the grade difference between groups was not significant ( P=0.089), and the excellent and good rates of clinical efficacy in study group and control group were 89.47% (17/19) and 73.68% (14/19), respectively. Patient satisfaction in study group was significantly better than that in control group ( P=0.036). CONCLUSION Standardized rehabilitation process can effectively promote the postoperative functional recovery of adult clubfoot treated with Ilizarov technique, reduce the risk of complications and improve effectiveness.
Humans ; Ilizarov Technique/rehabilitation* ; Clubfoot/rehabilitation* ; Male ; Female ; Retrospective Studies ; Adult ; Treatment Outcome ; Young Adult ; Weight-Bearing ; Adolescent

BackgroundPrevious studies have found that patients with generalized anxiety disorder （GAD） have impaired performance in executive function， and group cognitive behavioral therapy （CBT） has been shown to be effective in alleviating negative affect in patients with GAD， while its efficacy on executive function remains unclear. ObjectiveTo explore the efficacy of group CBT on anxiety symptom and executive function in GAD patients， so as to provide references for the rehabilitation program for GAD. MethodsA total of 80 consecutive patients with GAD who were hospitalized in Sleep and Psychosomatic Medical Center of Shiyan Taihe Hospital from March 2021 to August 2022 and met the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） diagnostic criteria for GAD were enrolled， and they were assigned into study group （n=40） and control group （n=40） using random number table methods. All patients were subjected to routine medication treatment and regular health education， based on this， study group received group CBT once a week （6 weeks， 60 to 90 minutes per session）. At the enrollment and after 6 weeks of treatment， patients were assessed using Hamilton Anxiety Scale （HAMA） and Frontal Assessment Battery （FAB）. ResultsANOVA with repeated measures on HAMA score revealed a significant time effect （F=1 870.320， P<0.01）， no significant group effect and no significant time×group interaction effect （F=1.254， 0.293， P>0.05）. Significant time effect， group effect and time×group interaction effect were reported on FAB scores （F=311.190， 4.399， 7.021， P<0.05 or 0.01）. Further analysis indicated that FAB scores of both groups after treatment were higher than those at baseline （t=200.569， 115.401， P<0.01）.And the FAB score of study group was higher than that of control group after treatment （t=-3.211， P<0.01）. ConclusionGroup CBT combined with medication treatment for GAD may alleviate the anxiety symptoms and improve executive function in GAD patients. ［Funded by Shiyan Science and Technology Bureau Pilot Scientific Research Project （number， 21Y21）］

Objective To deeply analyze the problems of public hospitals in medical service satisfaction,construct a more applicable and explanatory service satisfaction evaluation model,and provide reference for the improvement path of patients'medical service satisfaction.Methods Based on the ESCI model,this paper puts forward a research hypothesis,compiles the"Medical Service Satisfaction Evaluation Scale of Public Hospitals in S City",selects S public hospitals as the research object,and evaluates medical service satisfaction from the perspective of patients.Results At present,the main problems affecting the improvement of patients'satisfaction with medical service management in public hospitals in S city are as follows:it is urgent to improve the diagnosis and treatment technology in terms of hardware quality and optimize the environmental hygiene of public hos-pitals,and it is an urgent task to shorten the waiting time for medical treatment in software quality.The score of medical service satisfaction evaluation of S public hospitals was 3.76,and the satisfaction of patients in S public hospitals with their medical serv-ices was at a moderately low level.Conclusion In view of the above problems,it is recommended to strengthen the construction of key specialties,strengthen the construction of talent team,optimize the medical process,open digital linkage services,and strengthen service management,so as to promote the improvement of patients'satisfaction with medical services.

Objective To evaluate the application of percutaneous right atrial puncture and tunneled cuffed catheter insertion and the establishment of peripheral arteriovenous(AV)access in hemodialysis patients with superior vena cava occlusion(SVCO),and to provide evidence-based support for the re-establishment of vascular access in patients with limited vascular resources.Methods Patients with SVCO were enrolled.Then,either right neck percutaneous puncture catheterization or peripheral AV access construction was performed on the patients according to their personal preference.The patients were divided into the catheter group and the AV access group accordingly.Under the guidance of double C-arm digital subtraction angiography,a puncture was made in the right brachiocephalic vein or the stump of superior vena cava.Portal venous shunt instrument RUPS100 was then inserted through the guide wire,and the hard end of the guide wire was used to puncture the right atrium to achieve sharp recanalization of the occlusive superior vena cava.Afterwards,balloon expansion of the obstructive superior vena cava lesion and the subsequent implantation of the tunneled-cuffed catheter were performed.In AV access group,after evaluating the collateral veins by venougraphy and the peripheral vessel by ultrasound,autologous AV fistula or graft was established according to the vascular conditions of the patient and their personal preferences.The demographic information and clinical outcomes,such primary and primary assisted patency of access,were documented and the incidence of complications was monitored.With the duration of patent access defined as the survival time,Kaplan-Meier survival analysis was performed to compare the patency rates of the two groups.Results A total of 45 SVCO patients were enrolled and underwent re-establishment of vascular access.Among them,21 cases were in the catheter group and 24 cases were in the AV access group.All patients had their vascular access successfully constructed and received hemodialysis,and no relevant complications or deaths occurred during the procedure.Over the mean follow-up period of(471.22±125.94)days,the primary patency rates in the catheter group 95.2％and 85.7％at 6 and 12 months,respectively,and the primary assisted patency rates were 100％and 95.2％,respectively.The primary patency rates of the AV access group were 79.2％and 62.5％at 6 and 12 months,and the primary assisted patency rates were 95.8％and 87.5％,respectively.No significant difference was observed between the two groups.Kaplan-Meier survival analysis showed that the median survival time(defined as the duration of patent access)was 670.00(468.99,871.01)days in the catheter group and 450.00(339.24,560.76)days in the AV access group,with the catheter group outperforming the AV access group.The primary patency rate of the catheter group was better than that of the AV access group(P=0.049).On the other hand,no significant difference was observed in the primary assisted patency rates of the two groups.Conclusions Long-term vascular access can be established for SVCO patients by either percutaneous catheterization through the right atrium of superior vena cava stump or the establishment of peripheral AV access.The comprehensive plan,which includes the establishment of AV access first and the subsequent catheterization,is expected to improve the total duration of long-term vascular access and prolong the overall survival of dialysis patients,which provides new ideas for re-establishing dialysis access in patients with exhausted central venous resources.

Aim To investigate the effeot of Shenqi Fuzheng injection on the prevention of immune myocarditis induced by anti-PD-1 antibody by reducing the production of inflammatory factors and the expression of myocardial injury markers. Methods Thirty-two maie PD-1 humanized mice with C57BL/6 genetic background were randomly divided into control group, myocarditis model group, anti-PD-1 antibody group and Shenqi Fuzheng injection group (n = 8). Except the control group, mice in other groups were intraperitoneally injected with myocardial myosin heavy chain peptide (5 mg • kg

In order to strengthen the supervision of the use of drugs in hospitals，the Sichuan Academy of Medical Sciences· Sichuan Provincial People’s Hospital took the lead in compiling the Principles for the Rational Use of National Key Monitoring Drugs （the Second Batch） with a number of experts from multiple medical units in accordance with the Second Batch of National Key Monitoring Rational Drug Use List （hereinafter referred to as “the List”） issued by the National Health Commission. According to the method of the WHO Guidelines Development Manual， the writing team used the Delphi method to unify expert opinions by reading and summarizing the domestic and foreign literature evidence of related drugs， and applied the evaluation， formulation and evaluation method of recommendation grading （GRADE） to evaluate the quality of evidence formed， focusing on more than 30 drugs in the List about the evaluation of off-label indications of drugs， key points of rational drug use and key points of pharmaceutical monitoring. It aims to promote the scientific standardization and effective management of clinical medication， further improve the quality of medical services， reduce the risk of adverse drug reactions and drug abuse， promote rational drug use， and improve public health.

Objective:To summarize the clinical manifestations and gene mutation features of patients with nucleotide excision repair (NER) disorders.Methods:A retrospective analysis was made on clinical data of patients with NER disorders who were admitted to the Chinese People′s Liberation Army General Hospital from October 2008 to February 2022 and diagnosed in the Outpatient Department of Beijing Children′s Hospital, Capital Medical University from October 2015 to February 2022.Literature on previously reported Chinese patients with NER disorders was reviewed.Results:(1)A total of 16 patients with NER disorders were enrolled, including 6 males and 10 females.The onset age was 7.5 (4.0, 12.0) months and the age at diagnosis was 42.0 (21.5, 77.0) months.There were 3 types of NER disorders: Cockayne syndrome (CS) in 13 cases, Xeroderma Pigmentosum (XP) in 2 cases and Cerebro-Oculo-Facio-Skeletal syndrome (COFS) in 1 case.Four disease-causing genes were detected: CSA gene in 11 cases, CSB gene in 3 cases, XPG gene in 1 case, and XPD gene in 1 case.The first symptoms of the 16 patients were photosensitivity and developmental delay, and neurological symptoms were observed in all the 3 NER disorder types.XP and CS patients had skin symptoms.CS patients presented typical facial features, visual and auditory impairment, microcephaly and changes in neuroimaging features.COFS patients showed intrauterine growth retardation.(2)Results of literature review: a total of 96 Chinese patients reported were retrieved, involving 6 disease types, including CS in 45 cases, XP in 44 cases, trichothiodystrophy in 4 cases, COFS in 1 case, XP-CS in 1 case, and ultraviolet sensitive syndrome in 1 case.Nine mutated genes were identified: CSA in 33 cases, XPA in 15 cases, CSB in 13 cases, XPV in 10 cases, XPC in 9 cases, XPG in 7 cases, XPD in 7 cases, XPF in 1 case, and MPLKIP in 1 case.The common symptoms were growth failure (62 cases), skin photosensitivity (61 cases), typical facial features (52 cases), mental retardation (49 cases) and microcephaly (48 cases). Among 36 cases had imaging data 33 cases(91.7%)had calcification of basal nucleus or globus pallidus.Three cases had intrauterine growth retardation and microcephaly during pregnancy. Conclusions:Patients with such prenatal manifestations as intrauterine growth retardation and microcephaly or with typical symptoms like skin photosensitivity, typical facial features, growth failure, mental retardation, hypertonia, and calcifications of basal ganglia should be suspected of NER disorders.Early genetic testing is recommended to confirm the diagnosis.

OBJECTIVE: To determine the composition and distribution of beta-thalassemia-associated genotypes in Liuzhou area of Guangxi, China. METHODS: From January to December 2017, 13 847 individuals who came for premarital examination, maternity examination or health check were recruited with informed consent. The subjects were analyzed by reverse dot blotting (RDB) for 17 common beta-thalassemia-associated variants among the Chinese population. Individuals with inconsistent results by blood test, electrophoresis, and RDB were subjected to Sanger sequencing to detect rare variants of the beta globin gene. RESULTS: In total 2098 individuals were found to harbor beta-thalassemia-associated variants, which included 2075 heterozygotes (98.90%), 12 compound heterozygotes (0.57%) and 11 homozygotes (0.52%). CD41-42 (48.43%) and CD17 (31.45%) were the most common variants. Three hundred and thirty eight-individuals were found to also carry heterozygous variants of the alpha globin gene, with the most common types being --SEA/aa, -a3.7/aa, aCSa/aa, -a4.2/aa. Through Sanger sequencing, rare genotypes such as beta-32/betaN, betaCD41-42/betaIVS-II-5 and betaCD30/betaN were detected. CONCLUSION Liuzhou area has a high incidence of beta-thalassemia, but with a complex variant spectrum and clinical phenotypes different from other regions. Genetic counseling and prenatal diagnosis for the carrier population is crucial for the reduction of the related birth defects. Our result may provide valuable information for the prevention and control of beta-thalassemia in this area.
China ; Female ; Genetic Counseling ; Genetic Variation ; Genotype ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; alpha-Globins ; genetics ; beta-Globins ; genetics ; beta-Thalassemia ; diagnosis ; genetics

Many human genetic diseases, including Hutchinson-Gilford progeria syndrome (HGPS), are caused by single point mutations. HGPS is a rare disorder that causes premature aging and is usually caused by a de novo point mutation in the LMNA gene. Base editors (BEs) composed of a cytidine deaminase fused to CRISPR/Cas9 nickase are highly efficient at inducing C to T base conversions in a programmable manner and can be used to generate animal disease models with single amino-acid substitutions. Here, we generated the first HGPS monkey model by delivering a BE mRNA and guide RNA (gRNA) targeting the LMNA gene via microinjection into monkey zygotes. Five out of six newborn monkeys carried the mutation specifically at the target site. HGPS monkeys expressed the toxic form of lamin A, progerin, and recapitulated the typical HGPS phenotypes including growth retardation, bone alterations, and vascular abnormalities. Thus, this monkey model genetically and clinically mimics HGPS in humans, demonstrating that the BE system can efficiently and accurately generate patient-specific disease models in non-human primates.
Animals ; Disease Models, Animal ; Female ; Gene Editing ; Humans ; Lamin Type A/metabolism* ; Macaca fascicularis ; Progeria/pathology*

Objective: To explore the clinical value of contrast-enhanced ultrasound combined with modified labeled method in labeling sentinel lymph nodes of breast cancer in comparison with nano-carbon stained method. Methods: Eighty female breast cancer patients who underwent surgery in the First Affiliated Hospital of Soochow University between July 2017 and April 2019 were enrolled. Sentinel lymph nodes in all patients were labeled by contrast-enhanced ultrasound combined with modified labeled method and nano-carbon stained method, respectively. The consistency of first lymph node labeled by the two methods was judged, the number of SLNs labeled by two methods was counted, and the pathology of the labeled SLN was compared with that after axillary dissection. Results: The two methods have good consistency in locating sentinel lymph nodes of breast cancer(Kappa=0.749, P=0.000). The number of SLNs labeled by modified labeling method was significantly less than that labeled by stained method(Z=-7.434, P=0.000). The pathology of lymph nodes labeled by both the modified labeling method and stained method coincided well with that of axillary dissection(Kappa=0.941, 0.943; P=0.000, 0.000), and diagnostic efficiency was comparable(AUC=0.964, 0.967). Conclusions Contrast-enhanced ultrasound combined with modified labeling method is simple and accurate in labeling sentinel lymph nodes of breast cancer. Accurate assessment of axillary lymph node staging can be made by precise biopsy of 1-2 SLNs.