Objective: To investigate the clinical characteristics, diagnostic approach, and multidisciplinary treatment strategy for a rare case of congenital defect presenting as a complex of hemifacial microsomia with cardiac and spinal deformities, in order to provide a reference for the clinical management of such cases Methods : The clinical data of a 9-year-old patient with hemifacial microsomia (HFM) complicated by post-operative Tetralogy of Fallot and scoliosis were retrospectively analyzed. A definitive diagnosis was established through specialized examinations, imaging studies, bone age assessment, and intellectual evaluation. The patient presented with right-sided HFM (with 3 accessory auricles, a transverse facial cleft, a microform median cleft of the upper lip, hypoplasia of the mandible and facial soft tissues, and agenesis of the right parotid gland and coronoid process), increased orbital distance, dental malalignment, congenital absence of one lateral incisor, and rampant caries in both primary and permanent dentition. The patient had undergone open-heart surgery for Tetralogy of Fallot with a patent foramen ovale four years prior and also presented with scoliosis and systemic developmental delay (bone age approximately 7 years). A retrospective analysis of the diagnosis and treatment of this type of case was conducted in conjunction with a literature review. Results: A multi-disciplinary treatment (MDT) model was adopted. The patient first received treatment for dental caries, followed by excision of the right accessory auricles, repair of the transverse facial cleft, and correction of the microform upper lip cleft under general anesthesia. A 6-month follow-up showed significant improvement in facial appearance and good recovery of oral function. The literature review indicated that hemifacial microsomia is a congenital disease characterized by the hypoplasia of multiple tissue structures on one side of the face. Its etiology may be related to impaired blood supply to the first and second branchial arches during early pregnancy. It often affects the craniofacial bones, ears, and soft tissues, leading to functional impairments in respiration, feeding, speech, and hearing, as well as psychological issues, severely impacting the quality of life in serious cases. The combination with cardiac and spinal deformities is relatively rare and requires individualized sequential treatment plans based on clinical evaluation and surgical indications. This typically includes cardiac surgical correction, spinal orthopedics, early soft and hard tissue reconstruction (e.g., distraction osteogenesis, facial cleft repair, and accessory auricle excision), orthodontic and dental management during the growth period, and final facial contouring in adulthood. Conclusion HFM can be associated with cardiac and spinal deformities, presenting with complex clinical manifestations. Early diagnosis, MDT collaboration, and sequential treatment plans are key to improving patients’ prognosis and quality of life.

Background::Early detection of esophageal squamous cell carcinoma (ESCC) can considerably improve the prognosis of patients. Aberrant cell-free DNA (cfDNA) methylation signatures are a promising tool for detecting ESCC. However, available markers based on cell-free DNA methylation are still inadequate. This study aimed to identify ESCC-specific cfDNA methylation markers and evaluate the diagnostic performance in the early detection of ESCC.Methods::We performed whole-genome bisulfite sequencing (WGBS) for 24 ESCC tissues and their normal adjacent tissues. Based on the WGBS data, we identified 21,469,837 eligible CpG sites (CpGs). By integrating several methylation datasets, we identified several promising ESCC-specific cell-free DNA methylation markers. Finally, we developed a dual-marker panel based on methylated KCNA3 and OTOP2, and then, we evaluated its performance in our training and validation cohorts. Results::The ESCC diagnostic model constructed based on KCNA3 and OTOP2 had an AUC of 0.91 [95% CI: 0.85–0.95], and an optimal sensitivity and specificity of 84.91% and 94.32%, respectively, in the training cohort. In the independent validation cohort, the AUC was 0.88 [95% CI: 0.83–0.92], along with an optimal sensitivity of 81.5% and specificity of 92.9%. The model sensitivity for stage I–II ESCC was 78.4%, which was slightly lower than the sensitivity of the model (85.7%) for stage III–IV ESCC. Conclusion::The dual-target panel based on cfDNA showed excellent performance for detecting ESCC and might be an alternative strategy for screening ESCC.

Objective To study the incidence rate of sinus tarsi syndrome after lateral ankle sprain and observe the clinical efficacy of sinus tarsal corticosteroid injections.Methods From January 2021 to Janury 2022,391 patients with lateral ankle sprain and 88 patients with sinus tarsi syndrome using corticosteroid injections(compound betamethasone 1 ml+lidocaine hy-drochloride 4 ml)were retrospectively analyzed.There were 22 males and 66 females,aged from 29 to 60 years old with an av-erage of(41.00±7.52)years old,duration of the disease from 1 to 12 months with an average of(5.6±4.2)months.The visual analogue scale(VAS)and American Orthopedic Foot and Ankle Society(AOFAS)scores were collected before,1 month,3 months,6 months,and 12 months after treatment.Results All 88 patients completed a 12-month follow-up.The incidence rate of sinus tarsi syndrome after lateral ankle sprain was 22.5％.One month after treatment,VAS was 1.20±0.89,AOFAS score was 88.70±7.04.Three months after treatment,VAS was 1.60±1.35,AOFAS score was 85.20±10.95.Six months after treat-ment,VAS 2.35±1.39,AOFAS 80.30±9.75.Twelve months after treatment,VAS was 2.80±1.51,AOFAS score was 79.1±9.94.Significant differences were found before and after treatment at all four time points of follow-up(P＜0.05).Conclusion The re-sults of this study showed that the incidence rate of sinus tarsi syndrome after lateral ankle sprain was 22.5％.Corticosteroid injec-tions were effective in the short term with a 65％recurrence rate of symptoms within 1 year.For patients with no significant long-term effect of conservative treatment,clinicians may explore alternative approaches,including options like ankle arthroscopy.

Objective To investigate the clinical efficacy of the placement of the main mechanical support points in the early and middle stages of mechanical repair of femoral head necrosis in preventing collapse of the femoral head.Methods A retrospective analysis was performed for 17 cases 22 hips of non-traumatic femoral head necrosis in the early and middle stages from June 2018 to June 2019,including 14 males 18 hips and 3 females 4 hips,aged 34 to 47 years old.Among them,6 cases were hormonal,8 were alcoholic and 3 were idiopathic.According to China-Japan Friendship Hospital(CJFH)classification,9 hip were type L1,8 were L2,5 were L3.All cases were given dead bone scraping,autologous iliac granules pressed bone graft-ing,and allogeneic fibula column support treatment.After surgery,Sanqi Jiegu Pill(三 七 接 骨 丸)was administered orally for 3 months.X-rays of both hips were performed after surgery and follow-up,and the clinical efficacy was evaluated by hip Harris score before and after surgery.Results All cases were followed up for 24 to 38 months.The Harris score of 22 hips increased from 58 to 77 preoperative to 68 to 94 at the final follow-up.At the final follow-up,3 hips were excellent,1 1 hips were good,3 hips were acceptable,5 hips were poor.Two hips of L2 type progressed to ARCO Ⅲ B stage and continued to be observed,2 hips of L2 type and 2 hips of L3 type progressed to ARCO Ⅳ stage,and received total hip replacement,and 1 hip infection at 3 months after surgery was given a cement spacer.Conclusion Based on CJFH classification,collapse can be predicted to a cer-tain extent according to the area,volume,location and human biological characteristics of osteonecrosis,and the main mechan-ical support points are found on this basis to prevent collapse.

Objective:To detect the pharmacokinetic(PK)parameters of coagulation factor Ⅷ(FⅧ)in adult patients with severe hemophilia A,identify the potential factors influencing FⅧ PK,and optimize the use of FⅧ in individual prophylaxis regimens.Methods:PK characteristics of FⅧ were studied in a total of 23 severe hemophilia A adults.The correlation of patients'characteristics including age,von Willebrand factor antigen(vWF:Ag),blood group,weight,body mass index(BMI)and FⅧ genotype,with FⅧ PK were evaluated.Individual prophylaxis regimens were given based on FⅧ PK parameters.Results:The mean terminal half-life(t1/2)of FⅧ was 20.6±9.3 h,ranged from 11.47 h to 30.12 h.The age(r=0.580)and vWF:Ag(r=0.814)were significantly positively correlated with t1/2 of FⅧ.The mean area under the plasma concentration curve(AUC)of FⅧ was 913±399(328-1 878)IU h/dl,and the AUC of FⅧ was positively correlated with age(r=0.557)and vWF:Ag(r=0.784).The mean residence time(MRT)of FⅧ was 24.7±12.4(13.2-62.2)h,and the MRT of FⅧ was positively correlated with age(r=0.664)and vWF:Ag(r=0.868).The mean in vivo recovery(IVR)of FⅧ was 2.59±0.888(1.5-4.29)IU/dl per IU/kg,the mean clearance(CL)of FⅧ was 3±1.58(0.97-7.18)ml/(kg·h),and there was no significant correlation of IVR and CL with age and vWF:Ag.According to the individual PK parameters,ultra low-dose,low-dose and moderate-dose FⅧ were applied to 15,6,2 adults patients with severe hemophilia A for prophylaxis,respectively.Conclusion:There are significant individual differences in the FⅧ half-life of adult patients with severe hemophilia A.The older the patient,the higher the vWF:Ag level,and the longer the FⅧ half-life.Individual administration is required based on the FⅧ PK parameters to optimize prophylaxis treatment.

Objective:To evaluate the risk factors for the formation of parastomal Hernias(PSH)using meta-analysis,and to provide a theoretical basis for the prevention and treatment of PSH.Methods:Case control or Cohort study of PSH risk factors were collected by searching PubMed,CNKI,Wanfang data and other databases.Extract relevant data and perform meta-analysis using RevMan 5.3.Results:The results included a total of 16 studies,with a total sample size of 2411 cases,including 670 in the PSH group and 1741 in the non PSH group.The results showed that advanced age,female gender,BMI≥25,hypertension,COPD/chronic cough,diabetes,and postoperative Hypoproteinemia could increase the risk of PSH(P＜0.05);Smoking,previous ab-dominal surgery history,preoperative radiotherapy/chemotherapy etc.,were not significantly asso-ciated with the occurrence of PSH(P＞0.05).Conclusion:The current evidence shows that ad-vanced age,female gender,BMI≥25,hypertension,COPD/chronic cough,diabetes,postoperative Hypoproteinemia are risk factors for PSH,and extraperitoneal stoma can reduce the occurrence of PSH.

Objective:To investigate the expression of kinase-like gene CT10 regulatory fac-tor(CRKL)in intrahepatic cholangiocarcinoma(ICC)and its effect on the proliferation and invasion of intrahepatic cholangiocarcinoma cells.Methods:qRT-PCR detected CRKL transcription in ICC pa-tient tissues and adjacent tissues.Immunohistochemistry assessed CRKL expression in ICC tissues and adjacent tissues,and analyzed its relationship with clinicopathological features.For the inhibition of CRKL expression in QBC939 cells by siRNA technology,the effect of CRKL silencing on AKT and ERK signaling pathway was measured by Western blot.CRKL's influence on QBC939 cell prolifera-tion and invasion was analyzed by MTT,clonogenesis,and Transwell assays.Results:The expres-sion of CRKL in ICC tissues was up-regulated,and there were statistically significant differences in CRKL expression in ICC with different clinicopathological features such as tumor size,lymph node metastasis and TNM stage.Cellular experiments showed a significant decrease in the phosphoryla-tion of AKT and ERK upon inhibition of CRKL,and the proliferation and invasion ability of ICC cells was significantly diminished(P＜0.05).Conclusion:CRKL promotes ICC cell proliferation and invasion through AKT and ERK pathways,offering new molecular targets and directions for targeted therapy.

Extracellular vesicles (EV), as novel disease biomarkers, have shown broad applicational prospect in the field of laboratory medicine or disease diagnosis. There have been substantial advancements in EV isolation technologies, EV biomarker screening and validation, and EV detection techniques. However, to fully integrate EV into clinical laboratories, ongoing efforts are needed in several areas including multi-omics integration and big data analysis, the development of clinically suitable technologies in isolation and detection, the establishment of standardized and normalization of quality systems, and the execution of clinical trials and administration and approvals of products, so as to promote the application and transformation of EV detection technologies in disease diagnosis, therapeutic evaluation, and prognosis assessment, thereby fostering better service of people's health in the aspect of laboratory medicine.

Objective Analyze the implementation effects of the specialized disease management policy(hereinafter re-ferred to as the policy)to provide reference for strengthening operational management and enhancing the integration of business and finance in public hospitals.Methods Patient information of inpatients from a large comprehensive tertiary hospital from Jan-uary 2022 to June 2023 was collected.Four out of ten single diseases focused on by the national tertiary public hospital perform-ance assessment were included in the study group for specialized disease management,while the remaining six were used as the control group.A difference-in-differences model was adopted to analyze the changes in relevant indicators such as per capita inpa-tient expenses,average length of stay,per capita drug expenses,per capita consumable expenses,and per capita examination and treatment expenses before and after the policy implementation.Additionally,the effects of policy implementation were further analyzed based on different medical insurance types.Results A total of 22 457 patients were included,with 5 879 patients in the study group(3 164 cases before policy implementation and 2 715 cases after policy implementation),and 19 741 patients in the control group.The difference-in-differences model analysis showed that after the policy implementation,per capita inpatient expenses for specialized disease management patients decreased by 32.7％,average length of stay decreased by 31.4％,drug ex-penses decreased by 49.5％,consumable expenses decreased by 24.2％,and examination and treatment expenses decreased by 29.2％.Moreover,compared to patients under non-Wuhan medical insurance,patients under Wuhan medical insurance experi-enced a greater reduction in related indicators.Conclusion The implementation of the policy effectively reduces the burden on patients seeking medical care,improves medical treatment efficiency,contributes to hospital refined management methods,deep-ens the integration of business and finance,and facilitates the transition towards leaner operations.

Objective:To explore the main risk factors for acute myocardial infarction in young and middle-aged population.Methods:CNKI,VIP,Wanfang,CBM,PubMed,Embase,Web of Science,and the Cochrane Library databases were searched for case-control and cohort studies on the risk factors of acute myocardial infarction in young and middle-aged population from the establishment of the database to Feb 2023.The quality of the literature was evaluated using the Newcastle-Ottawa Scale(NOS).Meta-analysis was conducted using Stata 14.0 software.Results:A total of 15 articles were included in this study,including 2 961 patients in the case group and 57 604 patients in the control group.Results of the meta-analysis showed that male(OR=4.79,95%CI:3.28-6.99),hypertension(OR=2.77,95%CI:2.07-3.70),diabetes mellitus(OR=2.65,95%CI:1.89-3.71),family history of early-onset coronary heart disease(OR=3.66,95%CI:2.51-5.32),smoking(OR=2.29,95%CI:1.92-2.73),hyperlipidemia(OR=1.87,95%CI:1.67-2.10),insufficient sleep(OR=1.97,95%CI:1.57-2.47)were the risk factors for acute myocardial infarction in young and middle-aged population.Conclusion:Male,hypertension,diabetes,family history of early-onset coronary heart disease,smoking,hyperlipidemia and insufficient sleep are risk factors of acute myocardial infarction in young and middle-aged population.