Background/Aims: Liver transplantation (LT) following total hepatectomy is a life-saving treatment for hepatocellular carcinoma (HCC). The HCC recurrence after LT hinders the effectiveness of the procedure. The objective of this study is to develop a pre-operative risk stratification model based on a liquid biopsy. Methods: We conducted a comprehensive multi-omics study of 260 HCC patients from three centers, including clinical data, low-coverage whole-genome sequencing of cell-free DNA (cfDNA) from plasma, as well as whole-exome, single-nucleus RNA, and spatial transcriptomics from matched tumor and non-tumor tissues. Results: We identified cfDNA-derived copy number alteration (CNA) signatures associated with post-transplant recurrence. By integrating cfDNA-derived CNA profiles with single-cell transcriptomic data, we traced recurrence-associated cfDNA to a distinct subpopulation of malignant cells within the primary tumor. These cells were embedded in a pro-metastatic microenvironment of specialized endothelial subtypes and cancer-associated fibroblasts. Notably, most recurrence-associated lesions were detectable in cfDNA prior to liver transplantation (LT). Building on these insights, we developed the ZJU Criteria based on CNA fragments and tumor markers, a pre-LT risk prediction tool that integrates conventional clinical factors with cfDNA-derived CNA signatures, and validated it using internal and independent external cohorts. Conclusion Our findings suggest that post-transplant recurrence commonly originates from advanced subclones that emerge late during tumor evolution. The ZJU Criteria provides an accurate, non-invasive strategy that significantly improves pre-LT risk stratification and clinical decision-making for patients with HCC.

BACKGROUND:Mechanical alignment is the"gold standard"alignment technique in total knee arthroplasty,but regardless of advances in prosthetic materials and robotic-assisted navigation,mechanical alignment-total knee arthroplasty still has a patient dissatisfaction rate of about 20％.OBJECTIVE:To evaluate the early efficacy of navigation-assisted total knee arthroplasty using functional alignment.METHODS:A total of 44 consecutive cases(50 knees)that underwent computer navigation-assisted total knee arthroplasty with functional alignment from October 2019 to June 2023 were retrospectively analyzed,including 12 males(14 knees)and 32 females(36 knees).A total of 46 consecutive cases(50 knees)that underwent navigation-assisted total knee arthroplasty with mechanical axis alignment by the same surgical team during the same period were selected as controls,including 5 males(5 knees)and 41 females(45 knees).The tibial osteotomy angle,tibial plateau osteotomy amount,femoral osteotomy angle,distal femoral,posterior and anterior osteotomy amount,and joint line movement were observed in the two groups of patients.Preoperative and postoperative flexion and extension gap internal and external laxity,hip-knee-ankle angle,mechanical lateral distal femoral angle,mechanical medial proximal tibial angle,joint line convergence angle,sagittal femoral component angle,posterior tibial slope,arithmetic hip-knee-ankle angle,joint line obliquity,coronal plane alignment of the knee classification,Western Ontario and McMaster Universities Osteoarthritis Index,and Hospital for Special Surgery score and forgotten joint score were compared between the two groups.RESULTS AND CONCLUSION:(1)The intraoperative tibial plateau osteotomy angle in the functional alignment group was greater than that in the mechanical axis alignment group,and the proportion of gap imbalance(2％)was smaller than that in the mechanical axis alignment group(18％).The differences were all significant(P＜0.05).(2)The hip-knee-ankle angle,mechanical medial proximal tibial angle,arithmetic hip-knee-ankle angle,and joint line obliquity in the functional alignment group were smaller than those in the mechanical axis alignment group postoperatively,and the differences were significant(P＜0.05).(3)The most common coronal plane alignment of the knee classification before surgery was type Ⅰ(80％in the functional alignment group and 42％in the mechanical axis alignment group).(4)The proportion of joint line obliquity＜177°(44％)in the functional alignment group was greater than that in the mechanical axis alignment group(14％)postoperatively.(5)Hospital for Special Surgery score at 1 month,6 months,and last follow-up after surgery was higher in the functional alignment group than that in the mechanical axis alignment group;the differences were statistically significant(P＜0.05).The Western Ontario and McMaster Universities Osteoarthritis Index 1 month after surgery was lower in the functional alignment group than that in the mechanical axis alignment group;the difference was statistically significant(t=-2.85,P=0.005).There was no significant difference in postoperative range of motion and forgotten joint score between the two groups(P＞0.05).(6)It is indicated that navigation-assisted total knee arthroplasty using functional alignment optimizes early clinical efficacy.The functional alignment technique has advantages in restoration of constitutional alignment and joint line obliquity and avoids soft tissue release compared to mechanical alignment technique.

Objective:To explore the clinical efficacy of "four-step" aortic valve anatomic repair for bicuspid aortic valve(BAV) with aortic regurgitation(AR).Methods:From August 2021 to November 2024, a total of 298 consecutive patients with BAV-AR underwent aortic valve anatomic repair(AVr) in Shanghai Zhongshan Hospital Fudan University, 266 males and 32 females, with age of 39(29.5, 48.5) years. All patients underwent " four-step" three-dimensional anatomic repair of the aortic annulus and leaflets, 129(43.3%) patients via upper mini-sternotomy and 169(56.7%) patients via conventional median sternotomy, with the main steps including: (1) deep dissecting and annuloplasty of the virtual basal ring(VBR); (2) symmetrical repairing of leaflets; (3) replacement or remodeling of the sinus of Valsalva; (4) annuloplasty of the sinotubular junction(STJ). Basal and perioperative data were retrospectively collected, and statistical analysis was performed in conjunction with follow-up data.Results:All patients successfully underwent anatomical repair without transferring to valve replacement during operation. Among them, 43 patients underwent aortic root reimplantation technique(Reimplantation group), while 255 patients underwent modified aortic root sleeve remodeling technique(Sleeve group). The median cardiopulmonary bypass time for the Reimplantation and Sleeve groups were 154(134, 169) minutes and 111(95, 129) minutes, respectively( P<0.05); the median aortic cross-clamp time were 112(100, 131) minutes and 80(67, 94) minutes, respectively( P<0.05). Preoperative TEE showed 35 patients(81.4%) and 229 patients(89.8%) with moderate and severe AR in Reimplantation and Sleeve groups, respectively. Postoperative TEE showed 41 patients(95.3%) with no/trace AR and 2 patients(4.7%) with central mild AR in Reimplantation group, while 212 patients(83.1%) with no/trace AR and 43 patients(16.9%) with central mild AR in Sleeve group. Follow-up was completed in all patients, with a median follow-up of 12.9(4.7, 21.2) months. Echocardiography was obtained in 271 patients(90.9%) at the latest follow-up, including no/trace AR in 167 patients(56.0%), mild AR in 89 patients(29.9%), moderate AR in 14 patients(4.7%), and severe AR in 1 patient(0.3%). Conclusion:Aortic valve anatomic repair by standardized "four-step" approach is safe and reproducible. Satisfied short- and mid-term outcome have obtained in selected BAV-AR patients.

Objective:To explore the clinical efficacy of "four-step" aortic valve anatomic repair for bicuspid aortic valve(BAV) with aortic regurgitation(AR).Methods:From August 2021 to November 2024, a total of 298 consecutive patients with BAV-AR underwent aortic valve anatomic repair(AVr) in Shanghai Zhongshan Hospital Fudan University, 266 males and 32 females, with age of 39(29.5, 48.5) years. All patients underwent " four-step" three-dimensional anatomic repair of the aortic annulus and leaflets, 129(43.3%) patients via upper mini-sternotomy and 169(56.7%) patients via conventional median sternotomy, with the main steps including: (1) deep dissecting and annuloplasty of the virtual basal ring(VBR); (2) symmetrical repairing of leaflets; (3) replacement or remodeling of the sinus of Valsalva; (4) annuloplasty of the sinotubular junction(STJ). Basal and perioperative data were retrospectively collected, and statistical analysis was performed in conjunction with follow-up data.Results:All patients successfully underwent anatomical repair without transferring to valve replacement during operation. Among them, 43 patients underwent aortic root reimplantation technique(Reimplantation group), while 255 patients underwent modified aortic root sleeve remodeling technique(Sleeve group). The median cardiopulmonary bypass time for the Reimplantation and Sleeve groups were 154(134, 169) minutes and 111(95, 129) minutes, respectively( P<0.05); the median aortic cross-clamp time were 112(100, 131) minutes and 80(67, 94) minutes, respectively( P<0.05). Preoperative TEE showed 35 patients(81.4%) and 229 patients(89.8%) with moderate and severe AR in Reimplantation and Sleeve groups, respectively. Postoperative TEE showed 41 patients(95.3%) with no/trace AR and 2 patients(4.7%) with central mild AR in Reimplantation group, while 212 patients(83.1%) with no/trace AR and 43 patients(16.9%) with central mild AR in Sleeve group. Follow-up was completed in all patients, with a median follow-up of 12.9(4.7, 21.2) months. Echocardiography was obtained in 271 patients(90.9%) at the latest follow-up, including no/trace AR in 167 patients(56.0%), mild AR in 89 patients(29.9%), moderate AR in 14 patients(4.7%), and severe AR in 1 patient(0.3%). Conclusion:Aortic valve anatomic repair by standardized "four-step" approach is safe and reproducible. Satisfied short- and mid-term outcome have obtained in selected BAV-AR patients.

OBJECTIVE: To establish digital model of Ideberg typeⅡregional glenoid fracture anatomical plate with 3D metal printing technology. METHODS: The scapular imaging data of a 34-year-old healthy male volunteer were retrospectively selected. Mimics 15.01, NX 12.0 and other software were used to design Ideberg typeⅡ regional scapular fracture guide plate system. STL data were input into a metal 3D printer to print 1∶1 scapular model and anatomical plate of scapular pelvis with guide sleeve. The fit of the plate was tested in vitro and the accuracy of the screw position was evaluated by imaging. The printing time of scapular model, design of the nail path and making time of the anatomic guided plate were recorded. RESULTS: 3D metal-printed Ideberg typeⅡ guide plate for scapular fracture fitted well to 3D printed scapular model, the locking screw was oriented accurately, and X-ray and CT showed good screw position. The printing time of scapula model, time of nail path design and special-shaped anatomical guide plate production were 52.0, 15.0 and 320 min, respectively. CONCLUSION Anatomical plates based on 3D metal printing technology could achieve good adhesion of Ideberg typeⅡ regional fractures and precise screw placement, providing a new and accurate surgical method for the treatment of Ideberg typeⅡ glenoid fractures.
Humans ; Printing, Three-Dimensional ; Male ; Adult ; Bone Plates ; Fractures, Bone/diagnostic imaging* ; Fracture Fixation, Internal/methods* ; Pelvic Bones/surgery* ; Metals ; Scapula/surgery* ; Models, Anatomic

OBJECTIVES: To investigate the clinical characteristics and prognosis of chronic disseminated candidiasis (CDC) in children with acute leukemia (AL) following chemotherapy. METHODS: A retrospective analysis was conducted on children diagnosed with CDC (including confirmed, clinically diagnosed, and suspected cases) after AL chemotherapy from January 2015 to December 2023 at Fujian Medical University Union Hospital, Zhangzhou Municipal Hospital, and Quanzhou First Hospital Affiliated to Fujian Medical University. Clinical characteristics and prognosis were analyzed. RESULTS: The incidence of CDC in children with AL following chemotherapy was 1.92% (32/1 668). Among the children with acute lymphoblastic leukemia, the incidence of CDC in the high-risk group was significantly higher than in the low-risk group (P=0.002). All patients presented with fever unresponsive to antibiotics during the neutropenic period, with 81% (26/32) involving the liver. C-reactive protein (CRP) levels were significantly elevated (≥50 mg/L) in 97% (31/32) of the patients. The efficacy of combined therapy with liposomal amphotericin B and caspofungin or posaconazole for CDC was 66% (19/29), higher than with caspofungin (9%, 2/22) or liposomal amphotericin B (18%, 2/11) monotherapy. The overall cure rate was 72% (23/32). The proportion of patients with CRP ≥50 mg/L and/or a positive β-D-glucan test for more than 2 weeks and breakthrough infections during caspofungin treatment was significantly higher in the treatment failure group compared to the successful treatment group (P<0.05). CONCLUSIONS CDC in children with AL after chemotherapy may be associated with prolonged neutropenia due to intensive chemotherapy. Combination antifungal regimens based on liposomal amphotericin B have a higher cure rate, while persistently high CRP levels and positive β-D-glucan tests may indicate poor prognosis.
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Antifungal Agents/therapeutic use* ; Candidiasis/diagnosis* ; Chronic Disease ; Leukemia/complications* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications* ; Prognosis ; Retrospective Studies

OBJECTIVE: To analyze the distribution characteristics of glucose-6-phosphate-dehydrogenase (G6PD) mutations and their enzyme activity in newborns patients with G6PD deficiency in Guilin region. METHODS: From July 2022 to July 2024, umbilical cord blood samples from 4 554 newborns in Guilin were analyzed for G6PD mutations using fluorescence PCR melting curve analysis. Enzyme activity was detected in 4 467 cases using the rate assay. RESULTS: Among 4 467 newborns who underwent G6PD activity testing, 162 newborns (3.63%) were identified as G6PD-deficient, including 142 males (6.04%) and 20 females (0.94%), the prevalence of G6PD deficiency was significantly higher in males than in females (P < 0.001). Genetic analysis of 4 554 newborns detected G6PD mutations in 410 cases (9%), including 171 males (7.13%) and 239 females (11.09%), with a significantly higher mutation detection rate in females than in males (P < 0.001). A total of nine single mutations and four compound heterozygous mutations were identified. The most common mutations were c.1388G>A (33.66%), c.1376G>T (23.66%) and c.95A>G (16.34%). Among newborns who underwent both enzyme activity and genetic mutation testing, males with G6PD mutations had significantly lower enzyme activity than that of females with G6PD mutations(P < 0.001). Specifically, among newborns carrying the mutations c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T or c.871G>A, males consistently exhibited lower enzymatic activity than females with the same mutations (P < 0.001). Furthermore, in male G6PD-deficient newborns, the enzyme activity levels in those carrying c.1388G>A, c.1376G>T, c.95A>G, c.1024C>T, or c.871G>A were lower than those in both the control group and the c.519C>T group (P < 0.05). CONCLUSION This study provides a comprehensive profile of G6PD deficiency incidence and mutation spectrum in the Guilin region. By analyzing enzyme activity and genetic mutation results, this study provides insights into potential intervention strategies and personalized management approaches for the prevention and treatment of neonatal G6PD deficiency in the region.
Humans ; Infant, Newborn ; Glucosephosphate Dehydrogenase Deficiency/epidemiology* ; Glucosephosphate Dehydrogenase/genetics* ; Female ; Male ; Mutation ; China/epidemiology*

Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

BACKGROUND:Mechanical alignment is the"gold standard"alignment technique in total knee arthroplasty,but regardless of advances in prosthetic materials and robotic-assisted navigation,mechanical alignment-total knee arthroplasty still has a patient dissatisfaction rate of about 20％.OBJECTIVE:To evaluate the early efficacy of navigation-assisted total knee arthroplasty using functional alignment.METHODS:A total of 44 consecutive cases(50 knees)that underwent computer navigation-assisted total knee arthroplasty with functional alignment from October 2019 to June 2023 were retrospectively analyzed,including 12 males(14 knees)and 32 females(36 knees).A total of 46 consecutive cases(50 knees)that underwent navigation-assisted total knee arthroplasty with mechanical axis alignment by the same surgical team during the same period were selected as controls,including 5 males(5 knees)and 41 females(45 knees).The tibial osteotomy angle,tibial plateau osteotomy amount,femoral osteotomy angle,distal femoral,posterior and anterior osteotomy amount,and joint line movement were observed in the two groups of patients.Preoperative and postoperative flexion and extension gap internal and external laxity,hip-knee-ankle angle,mechanical lateral distal femoral angle,mechanical medial proximal tibial angle,joint line convergence angle,sagittal femoral component angle,posterior tibial slope,arithmetic hip-knee-ankle angle,joint line obliquity,coronal plane alignment of the knee classification,Western Ontario and McMaster Universities Osteoarthritis Index,and Hospital for Special Surgery score and forgotten joint score were compared between the two groups.RESULTS AND CONCLUSION:(1)The intraoperative tibial plateau osteotomy angle in the functional alignment group was greater than that in the mechanical axis alignment group,and the proportion of gap imbalance(2％)was smaller than that in the mechanical axis alignment group(18％).The differences were all significant(P＜0.05).(2)The hip-knee-ankle angle,mechanical medial proximal tibial angle,arithmetic hip-knee-ankle angle,and joint line obliquity in the functional alignment group were smaller than those in the mechanical axis alignment group postoperatively,and the differences were significant(P＜0.05).(3)The most common coronal plane alignment of the knee classification before surgery was type Ⅰ(80％in the functional alignment group and 42％in the mechanical axis alignment group).(4)The proportion of joint line obliquity＜177°(44％)in the functional alignment group was greater than that in the mechanical axis alignment group(14％)postoperatively.(5)Hospital for Special Surgery score at 1 month,6 months,and last follow-up after surgery was higher in the functional alignment group than that in the mechanical axis alignment group;the differences were statistically significant(P＜0.05).The Western Ontario and McMaster Universities Osteoarthritis Index 1 month after surgery was lower in the functional alignment group than that in the mechanical axis alignment group;the difference was statistically significant(t=-2.85,P=0.005).There was no significant difference in postoperative range of motion and forgotten joint score between the two groups(P＞0.05).(6)It is indicated that navigation-assisted total knee arthroplasty using functional alignment optimizes early clinical efficacy.The functional alignment technique has advantages in restoration of constitutional alignment and joint line obliquity and avoids soft tissue release compared to mechanical alignment technique.

Objective To explore the experience of robot-assisted laparoscopic surgery in the treatment of residual malformation of urachus with children.Methods The clinical date of 10 children with urachal remnants malformation treated by Da Vinci Robot Assisted Laparoscopic Surgery in Wuhan Children's Hospital from July 2021 to July 2023 were retrospectively analyzed.Robot-assisted laparoscopic surgery was used to analyze the intraoperative situation,postoperative complications,surgical effect and pathological results.Results All 10 cases were treated by Da Vinci Robot Assisted Laparoscopic Surgery without Laparotomy and complete excision,while maintain the umbilical integrality,8 cases with symptoms were resected after preoperative imaging diagnosis,1 case was asymptomatic and resected due to continuous enlargement of the cyst,and 1 case was found to be resected during other operations.The average operation time was(140.70±17.66)min,the median blood loss was 7.5(4.5,27.5)ml,the postoperative urethral catheterization was(6.2±1.26)d,the hospital stay was(9.9±0.94)d and the average cost was(46378.92±2777.13)yuan.All the urachal remnants were confirmed by Pathology as 9 cases of urachal cysts and 1 case of urachal fistula.Conclusion Robot-assisted laparoscopic surgery is safe and effective in the treatment of urachal remnants malformation in children,the surgical procedure for resected repair of the anterior abdominal wall has unique advantages.