Objective To assess the clinical value of prognostic nutritional index(PNI)in predicting the prognosis of patients with advanced liver cancer treated with transarterial chemoembolization(TACE)combined with ablation therapy.Methods A total of 112 patients with advanced liver cancer,who received TACE combined with ablation at the Lishui Municipal Central Hospital of China from January 2020 to January 2024,were enrolled in this study.The general data,survival status,and survival time were collected.The Youden index of PNI was calculated using the receiver operating characteristic(ROC)curve model,and the optimal cutoff value was determined.Based on the optimal cutoff value,the patients were divided into low-PNI group and high-PNI group.The progression-free survival(PFS)and overall survival(OS)time were compared between the two groups,and the independent risk factors affecting PFS and OS were analyzed.Results The Youden index for PNI was 0.43,and the optimal cutoff value of PNI was 43.95.The low-PNI group included 65 patients,and the high-PNI group included 47 patients.There were no statistically significant differences in the baseline data between the two groups.The median PFS and the median OS in the high-PNI group were 13.21 months(95％CI=4.37-22.03)and 40.80 months(95％CI=31.55-50.05)respectively,which were longer than 9.20 months(95％CI=6.58-11.82)and 21.37 months(95％CI=16.56-26.17)respectively in the low-PNI group,the differences were statistically significant(both P＜0.05).The 6-month,one-year and 2-year PFS in the high-PNI group was 56.95％,47.25％and 33.87％respectively,which were higher than 43.95％,32.56％and 16.31％respectively in the low-PNI group.The one-year,2-year and 3-year cumulative survival rates in the high-PNI group were 80.77％,66.66％and 39.40％respectively,which were higher than 63.79％,34.31％and 27.75％respectively in the low-PNI group.Multivariate regression analysis indicated that the number of nodules,metastasis and PNI significantly affected OS,and metastasis and PNI strikingly affected PFS.High PNI was a protective factor for both PFS and OS.Conclusion For patients with advanced liver cancer treated with TACE combined with ablation therapy,PNI is an effective indicator for predicting the prognosis.

Objective To evaluate the combination score of albumin-bilirubin index(ALBI)and alkaline phosphatase(ALP)in predicting the prognosis of patients with cirrhosis complicated by portal hypertension after receiving transjugular intrahepatic portosystemic shunt(TIPS).Methods A total of 61 patients with cirrhosis complicated by portal hypertension,who received TIPS treatment at the Lishui Municipal Central Hospital of China from January 2016 to June 2024,were retrospectively collected.According to the Youden index of ALBI and ALP,the optimal cut-off values were calculated,and the patients were divided into low ALBI-low ALP group(0-point group),high ALBI-high ALP group(2-point group),and high ALBI-low ALP or low ALBI-high ALP group(one-point group).The efficacy of ALBI-ALP score in predicting the prognosis of patients was evaluated,and the survival rate and median survival time were compared between each other among the three groups.The independent risk factors affecting the survival time of patients were analyzed.Results The maximum Youden indexes of ALBI and ALP were 0.31 and 0.34 respectively,and the optimal cut-off values were-1.56 and 108.50 respectively.There were statistically significant differences in MELD score,Child-Pugh classification,and alanine aminotransferase level between each other among the three groups(all P＜0.05).The area under the ROC curve(AUC)of ALBI-ALP score was 0.77(95％ CI:0.66-0.89,P=0.000 2),which was better than 0.52 of the MELD score(95％ CI:0.37-0.67,P=0.77)as well as better than 0.57 of the Child-Pugh classification(95％ CI:0.43-0.72,P=0.34).The total mortality of patients was 49.18％.The mortality in the 0-point group was 11.11％(2/18),which was significantly lower than 59.46％(22/37)in the one-point group as well as than 100％(6/6)in the 2-point group,and the differences were statistically significant(x2=18.20,P＜0.001).In the 0-point group,as a large number of patients were still alive at the end of the study,the median survival time was unable to be calculated.The median survival time in the one-point group was 38.00 months(95％ CI:23.01-52.99 months),which in the 2-point group was only 1.00 month(95％ CI=0.00-2.60 months),the difference was statistically significant(x2=33.08,P＜0.000 1).In the 0-point group,one-point group and 2-point group,the one-year survival rates were 100％,66％ and 17％respectively,the 2-year survival rates were 100％,64％ and 17％ respectively,and the 3-year survival rates were 90％,53％ and 0％ respectively.Cox multivariate regression analysis showed that the combination score of ALBI and ALP(HR=7.11,95％ CI:2.95-17.15)was an independent risk factor for the survival time of patients with cirrhosis complicated by portal hypertension after receiving TIPS.Conclusion The combination score of ALBI and ALP can effectively predict the prognosis of patients with cirrhosis complicated by portal hypertension after receiving TIPS,and this score is an independent risk factor affecting the survival time of patients.

BACKGROUND: The HELIOS stent is a sirolimus-eluting stent with a biodegradable polymer and titanium oxide film as the tie-layer. The study aimed to evaluate the safety and efficacy of HELIOS stent in a real-world setting. METHODS: The HELIOS registry is a prospective, multicenter, cohort study conducted at 38 centers across China between November 2018 and December 2019. A total of 3060 consecutive patients were enrolled after application of minimal inclusion and exclusion criteria. The primary endpoint was target lesion failure (TLF), defined as a composite of cardiac death, non-fatal target vessel myocardial infarction (MI), and clinically indicated target lesion revascularization (TLR) at 1-year follow-up. Kaplan-Meier methods were used to estimate the cumulative incidence of clinical events and construct survival curves. RESULTS: A total of 2998 (98.0%) patients completed the 1-year follow-up. The 1-year incidence of TLF was 3.10% (94/2998, 95% closed interval: 2.54-3.78%). The rates of cardiac death, non-fatal target vessel MI and clinically indicated TLR were 2.33% (70/2998), 0.20% (6/2998), and 0.70% (21/2998), respectively. The rate of stent thrombosis was 0.33% (10/2998). Age ≥60 years, diabetes mellitus, family history of coronary artery disease, acute myocardial infarction at admission, and device success were independent predictors of TLF at 1 year. CONCLUSION: The 1-year incidence rates of TLF and stent thrombosis were 3.10% and 0.33%, respectively, in patients treated with HELIOS stents. Our results provide clinical evidence for interventional cardiologists and policymakers to evaluate HELIOS stent. CLINICAL TRIAL REGISTRATION ClinicalTrials.gov, NCT03916432.
Humans ; Middle Aged ; Sirolimus/therapeutic use* ; Drug-Eluting Stents/adverse effects* ; Prospective Studies ; Cohort Studies ; Treatment Outcome ; Risk Factors ; Time Factors ; Percutaneous Coronary Intervention/adverse effects* ; Cardiovascular Agents/therapeutic use* ; Coronary Artery Disease/therapy* ; Myocardial Infarction/etiology* ; Thrombosis/complications* ; Polymers ; Registries

OBJECTIVE: To summarize the clinical features and biological characteristics of Helsmoortel Van der Aa syndrome (HVDAS) due to hotspot mutations of the ADNP gene in order to facilitate early diagnosis. METHODS: Clinical data and result of genetic testing for a girl with HVDAS due to hotspot mutation of the ADNP gene was summarized. Related literature was also reviewed. RESULTS: The patient, a 2-year-old girl, had presented with growth retardation, facial dysmorphism, psychomotor and language delay and recurrent respiratory infections. Whole exome sequencing revealed that she has harbored a heterozygous c.2496_2499delTAAA (p.Asn832Lysfs*81) variant of the ADNP gene, which was not found in either of her parents. CONCLUSION Although the typical features of the HVDAS have included intellectual disability and autism spectrum disorders, growth retardation and premature primary tooth eruption may also be present. In addition, the phenotypic difference among individuals carrying hot spot variants of the ADNP gene was not prominent.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; Homeodomain Proteins/genetics* ; Nerve Tissue Proteins/genetics* ; Abnormalities, Multiple/genetics* ; Mutation ; Rare Diseases ; Growth Disorders/genetics*

Objective:To comparae the accuracy of imaging examination in preoperative parathyroid localization, and the safety and effect of total parathyroidectomy on secondary hyperparathyroidism complicated by chronic renal failure.Method:A total of 257 patients with secondary hyperparathyroidism who underwent total parathyroidectomy at the Department of General Surgery , Zhongshan Hospital, Dalian University from Mar 2012 to Mar 2022 were analyzed retrospectively.Result:Six hundred fourty parathyroid glands were found by color Doppler ultrasound and 954 parathyroid glands were by enhanced CT before the operation. Among them, the number of patients with accurate location of all 4 parathyroid glands by color Doppler ultrasound was 54, while that by enhanced CT was 216. The parathyroid detection rate by enhanced CT was significantly higher than that of color Doppler ultrasound ( χ2=325.480, P<0.001), and the accuracy rate was significantly higher tnan that of color ultrasound ( χ2=215.146, P<0.001). The average values of iPTH before operation, on the day after operation, on the 1st day and 7th day after operation were (1 880±890), (137±82), (66±46) and (34±23) pg/ml, respectively. The clinical symptoms of all patients were significantly relieved. Conclusions:Enhanced CT is superior to color Doppler ultrasound in the overall detection rate and individual localization accuracy of preoperative parathyroid localization. Total parathyroidectomy is safe and reliable in the treatment of secondary hyperparathyroidism complicated by chronic renal failure.

Objective: To investigate the clinicopathological features and immunohistochemical phenotypes of gastric SMARCA4-deficient undifferentiated carcinoma, and to discuss the daily diagnostics of this entity and analyze its prognosis. Methods: The cases of gastric SMARCA4-deficient undifferentiated carcinoma diagnosed at the Department of Pathology, Peking University Cancer Hospital, China from January 2010 to August 2022 were collected. The histological sections were reviewed, the immunohistochemical results and clinicopathological features were analyzed, and relevant literature was reviewed. Results: Pure foci of undifferentiated carcinoma were seen in 7 cases, and 1 case was accompanied by a moderately differentiated tubular adenocarcinoma component. Undifferentiated carcinoma foci showed similar sheet-like or solid diffuse growth pattern, medium-sized tumor cells characterized by 1-2 nucleoli, and abundant cytoplasm and rhabdoid appearance. The average patient age was 65±8 years. Six patients were male and 2 were female. Immunohistochemical staining showed that undifferentiated carcinoma of all 8 tumors were negative for SMARCA4 (BRG1). Among 7 patients who underwent SMARCA2 (BRM) and SMARCB1 (INI1) staining, 4 cases showed loss of BRM expression, 2 cases showed weakly positive staining, and 1 case was diffusely positive, but all 7 cases were diffusely strong positive for INI1. The neuroendocrine marker, synaptophysin, was weakly positive in 5 cases, while CgA and CD56 were negative in 8 cases. Ki-67 index was more than 70%. Two cases were mismatch repair deficient and showed the loss of MLH1/PMS2 expression, while 1 case showed only MSH2 loss. PD-L1 staining showed that combined positive score (CPS)≥1 in 4 cases (CPS ranging from 1 to 55) and CPS<1 in the other 3 cases. Four patients had clinical stage Ⅳ disease. Two of them died within 3 months after diagnosis. Conclusions: Gastric SMARCA4-deficient undifferentiated carcinoma/rhabdoid carcinoma is a rare group of highly malignant tumors with a poor prognosis. Loss of the core subunit of SWI/SNF complex may be associated with the development of dedifferentiated histological pattern and aggressive tumor progression, which may be more frequently accompanied with mismatch repair deficiency.
Male ; Female ; Humans ; Carcinoma/pathology* ; Adenocarcinoma ; Colorectal Neoplasms ; Cell Differentiation ; Stomach Neoplasms ; Biomarkers, Tumor ; DNA Helicases ; Nuclear Proteins ; Transcription Factors

Objective:To analyze and summarize the clinical effects of 3D printed porous titanium-alloy prosthesis implantation in the treatment of long bone defects of lower extremities.Methods:We retrospectively studied the clinical cases with lower extremity bone defect treated by 3D printed porous titanium prostheses from December 2017 to November 2021. 18 patients who were followed up for more than 12 months were included in this study. The enrolled patients included 12 males and 6 females, with an average of 48.9±22.5 years (range, 13-79 years), and an average body mass index of 23.1±4.3 kg/m 2 (range, 17.2-27.1 kg/m 2). There were 14 osteomyelitis-derived bone defects and 4 nonunion-derived bone defects. The bone defect locations included 10 cases of femur and 8 cases of tibia. The average bone defect distance was 13.9±9.7 cm (range, 5.8-31.2 cm), and the proportion of the defect length to the long bone (femur of tibia) was average 33.7%±16.8% (range, 15.0%-63.0%). The clinical efficacy was comprehensively evaluated through gross observation, imaging evaluation, changes in the total length of lower extremities and long bones, femorotibial angle (FTA) measurement, lower extremity functional scale (LEFS), satisfaction, complications and other indicators, focusing on the stabilization mechanism of the prosthesis and the regeneration of new bone. Results:All 18 patients were followed up for 12-35 months, with an average of 16.3 months. Postoperative X-rays at 1, 3, 12 and 24 months showed that new bone could gradually creep along the prosthesis surface. The preoperative bone defect length of long bone and total length of lower limb were respectively 39.4±4.0 cm and 80.5±5.7 cm, which were different from those of the healthy side by 1.6±1.0 cm and 1.5±1.1 cm. One week after implantation, the length of long bone and lower limb was 39.9±3.5 cm and 80.9±6.2 cm, respectively, and the average difference was 1.0±0.6 cm and 0.9±1.1 cm compared with the healthy side. At the last follow-up, the length of long bone and lower limb was 39.7±3.6 cm and 80.9±7.8 cm, with an average difference of 1.8±1.1 cm and 1.0±0.7 cm from the healthy side. There were no significant differences in the length of long bone and lower limbs at the three time points before surgery, one week after surgery and the last follow-up ( F=0.12, 0.04; P>0.05). The average FTA of the affected limb was 174.7° (173.9°, 175.5°), 175.2°(173.5°, 176.4°), and 175.0°(173.5°, 176.3°) at three time nodes, before surgery, one week after surgery and the last follow-up, respectively, and there was no significant statistical difference in pairwise comparison ( Z=0.01, P>0.05). Patients had a mean LEFS score of 50 (46, 51) at the last follow-up, significantly higher than the preoperative score of 20 (17, 21) ( Z=-5.56, P<0.001). The mean satisfaction score of the 18 patients at the last follow-up was 9.7. Two patients (11.1%) had screw fractures but all 3D printed porous titanium alloy prostheses remained stable without significant loosening or displacement. Two patients (11.1%) had nail channel infection of external fixator, all patients with channel infection were cured by intravenous antibiotics combined with local disinfection and dressing change. Conclusion:The implantation of 3D printed porous titanium-alloy prosthesis could efficiently and safely repair the long bone defects of the lower extremities. The prosthesis could maintain stable in the early and middle postoperative period. The length of the long bones and lower limbs did not change significantly with the weight-bearing and functional exercise of the limbs. The new bone could gradually crawl and grow from both ends of the defect, and the patient's limb function recovered significantly, and the patient's satisfaction was high.

The radial force of the degradable esophageal stent before and after degradation is one of the important indicators for effective treatment of esophageal stricture. Based on a combination of in vitro experiments and finite element analysis, this paper studies and verifies the biomechanical properties of a new type of degradable esophageal stent under different esophageal stricture conditions. Under radial extrusion conditions, the maximum stress at the port of the stent is 65.25 MPa, and the maximum strain is 1.98%; The peak values of stress and strain under local extrusion and plane extrusion conditions both appear in the extrusion area and the compression expansion area at both ends, which are respectively 48.68 MPa, 46.40 MPa, 0.49%, 1.13%. The maximum radial force of the undegraded stent was 11.22 N, and 97% and 51% of the maximum radial force were maintained after 3 months and 6 months of degradation, respectively. The research results verify the safety and effectiveness of the radial force of the new degradable esophageal stent, and provide a theoretical basis for the clinical treatment of esophageal stricture.
Esophageal Stenosis/surgery* ; Finite Element Analysis ; Humans ; Mechanical Phenomena ; Stents

OBJECTIVE: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation (FPHH). METHODS: Clinical data and family history for a child with FPHH were collected. Peripheral blood samples were collected from the child, his parents and two sisters. Following the extraction of DNA, high-throughput sequencing was carried out to screen for genetic variant associated with the disease. Candidate variant was verified by Sanger sequencing of his family members. RESULTS: The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation. High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene, which was unreported previously. Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree. CONCLUSION For infants with progressive skin pigmentation and hypopigmentation spots, FPHH should be suspected. The heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene probably underlay the FPHH in this pedigree.
Male ; Humans ; Pedigree ; Hypopigmentation/genetics* ; Phenotype ; Hyperpigmentation/genetics* ; China

Multi-modal therapeutics are emerging for simultaneous diagnosis and treatment of cancer. Polymeric carriers are often employed for loading multiple drugs due to their versatility and controlled release of these drugs in response to a tumor specific microenvironment. A theranostic nanomedicine was designed and prepared by complexing a small gadolinium chelate, conjugating a chemotherapeutic drug PTX through a cathepsin B-responsive linker and covalently bonding a fluorescent probe pheophorbide a (Ppa) with a branched glycopolymer. The branched prodrug-based nanosystem was degradable in the tumor microenvironment with overexpressed cathepsin B, and PTX was simultaneously released to exert its therapeutic effect. The theranostic nanomedicine, branched glycopolymer-PTX-DOTA-Gd, had an extended circulation time, enhanced accumulation in tumors, and excellent biocompatibility with significantly reduced gadolinium ion (Gd