We aimed to analyze the clinical data of 10 patients (6 male and 4 female) with Fabry disease (FD). The mean age of the patients was (28.80±9.27) years. Seven patients had classical FD and three had delayed onset FD. Among the 10 patients, six had skin involvement and cutaneous angiokeratoma; five had hypohidrosis or anhidrosis; nine had intermittent neuralgia; and three had supraorbital ridge protrusion, forehead bulge, and lip thickening. Five patients had proteinuria, including one with chronic kidney disease stage 3 and one with chronic kidney disease stage 5. Cardiac involvement occurred in three patients, two had myocardial hypertrophy and one had valvular insufficiency. The activity of galactosidase decreased in seven patients (2.80-1.55 μmol·L -1·h -1). Plasma deacetyl-GL-3 was elevated in all 10 patients(3.12-120.00 ng/ml). Three patients underwent renal biopsy, wherein two cases of focal segmental glomerulosclerosis and one of mesangial proliferative glomerulonephritis was found. A large number of myeloid and zebra bodies were found in the podocytes in three patients, including a small number of myeloid and zebra bodies in the renal tubular epithelial cells in one patient with occasional zebra bodies in the renal interstitium. Nine patients had GLA gene mutations. One patient was c.102T>A, a de novo mutation. Four patients were treated with agalsidase α injection (0.2 mg/kg, intravenous infusion every 2 weeks), and their prognosis was good. FD has various clinical manifestations and multi-system involvement, which requires multidisciplinary cooperation. Detection of galactosidase activity, plasma globotriaosylsphingosine, and GLA gene mutation can help for accurate diagnosis.

Objective To evaluate the predictive value of global longitudinal strain(GLS)measured by cardiac magnetic resonance(CMR)feature-tracking technique for left ventricular remodeling(LVR)after percutaneous coronary intervention(PCI)in patients with acute ST-segment elevation myocardial infarction(STEMI).Methods A total of 403 patients undergoing PCI for acute STEMI were prospectively recruited from multiple centers in China.CMR examinations were performed one week(7±2 days)and 6 months after myocardial infarction to obtain GLS,global radial strain(GRS),global circumferential strain(GCS),ejection fraction(LVEF)and infarct size(IS).The primary endpoint was LVR,defined as an increase of left ventricle end-diastolic volume by≥20%or an increase of left ventricle end-systolic volume by≥15%from the baseline determined by CMR at 6 months.Logistic regression analysis was performed to evaluate the predictive value of CMR parameters for LVR.Results LVR occurred in 101 of the patients at 6 months after myocardial infarction.Compared with those without LVR(n=302),the patients in LVR group exhibited significantly higher GLS and GCS(P<0.001)and lower GRS and LVEF(P<0.001).Logistic regression analysis indicated that both GLS(OR=1.387,95%CI:1.223-1.573;P<0.001)and LVEF(OR=0.951,95%CI:0.914-0.990;P=0.015)were independent predictors of LVR.ROC curve analysis showed that at the optimal cutoff value of-10.6%,GLS had a sensitivity of 74.3%and a specificity of 71.9%for predicting LVR.The AUC of GLS was similar to that of LVEF for predicting LVR(P=0.146),but was significantly greater than those of other parameters such as GCS,GRS and IS(P<0.05);the AUC of LVEF did not differ significantly from those of the other parameters(P>0.05).Conclusion In patients receiving PCI for STEMI,GLS measured by CMR is a significant predictor of LVR occurrence with better performance than GRS,GCS,IS and LVEF.

Objective:To investigate the value of systemic inflammatory response syndrome (SIRS), pediatric sequential organ failure assessment (pSOFA) and pediatric critical illness score (PCIS) in predicting mortality of pediatric sepsis in pediatric intensive care units (PICU) from Southwest China.Methods:This was a prospective multicenter observational study. A total of 447 children with sepsis admitted to 12 PICU in Southwest China from April 2022 to March 2023 were enrolled. Based on the prognosis, the patients were divided into survival group and non-survival group. The physiological parameters of SIRS, pSOFA and PCIS were recorded and scored within 24 h after PICU admission. The general clinical data and some laboratory results were recorded. The area under the curve (AUC) of the receiver operating characteristic curve was used to compare the predictive value of SIRS, pSOFA and PCIS in mortality of pediatric sepsis.Results:Amongst 447 children with sepsis, 260 patients were male and 187 patients were female, aged 2.5 (0.8, 7.0) years, 405 patients were in the survival group and 42 patients were in the non-survival group. 418 patients (93.5%) met the criteria of SIRS, and 440 patients (98.4%) met the criteria of pSOFA≥2. There was no significant difference in the number of items meeting the SIRS criteria between the survival group and the non-survival group (3(2, 4) vs. 3(3, 4) points, Z=1.30, P=0.192). The pSOFA score of the non-survival group was significantly higher than that of the survival group (9(6, 12) vs. 4(3, 7) points, Z=6.56, P<0.001), and the PCIS score was significantly lower than that of the survival group (72(68, 81) vs. 82(76, 88) points, Z=5.90, P<0.001). The predictive value of pSOFA (AUC=0.82) and PCIS (AUC=0.78) for sepsis mortality was significantly higher than that of SIRS (AUC=0.56) ( Z=6.59, 4.23, both P<0.001). There was no significant difference between pSOFA and PCIS ( Z=1.35, P=0.176). Platelet count, procalcitonin, lactic acid, albumin, creatinine, total bilirubin, activated partial thromboplastin time, prothrombin time and international normalized ratio were all able to predict mortality of sepsis to a certain degree (AUC=0.64, 0.68, 0.80, 0.64, 0.68, 0.60, 0.77, 0.75, 0.76, all P<0.05). Conclusion:Compared with SIRS, both pSOFA and PCIS had better predictive value in the mortality of pediatric sepsis in PICU.

Objective To analyze the typical biomarker of cancer-related fibroblasts-fibroblast activation protein-α(FAP)expression in tumor tissue and perinephric adipose tissue and its clinical value in risk stratification of clear cell renal cell carcinoma(ccRCC).Methods A retrospective cross-sectional study was conducted on ccRCC patients who underwent nephrectomy in Dongfeng General Hospital of Sinopharm Affiliated to Hubei Medical College from June 2018 to September 2022.The expression of FAP in ccRCC renal tumor tissue(n=114),non-neoplastic renal cortex tissue(n=68)and perirenal adipose tissue(n=60)was detected by immunohistochemical staining,and immunohistochemical images were quantitatively analyzed.The benign adipose tissue around the kidneys from 19 patients with benign kidney disease were collected as a control group,and also detect FAP expression.Receiver operating characteristic(ROC)curves was used to analyze the ability of FAP expression in perirenal adipose tissue to diagnose ccRCC and predict distant metastasis.Results Compared with matched non-neoplastic renal tissues,the expression of FAP in ccRCC was not up-regulated.The receiver operating characteristic(ROC)curve analysis showed that the percentage of FAP positive staining in ccRCC tissue had good tumor clinical stage,tumor size and distant metastasis potential(P＜0.001),and the area under the curve(AUC)were 0.90(95％CI:0.81-0.98),0.79(95％CI:0.66-0.92)and 0.86(95％CI:0.74-0.99),respectively.The percentage of FAP positive staining in perinephric adipose tissue of ccRCC can predict distant metastasis,and the AUC is 0.91(95％CI:0.84～0.97).The staining intensity of FAP expression in perinephric adipose tissue of ccrcc(191.77±3.14 vs.188.90±2.89,P＜0.001)was slightly higher than that of benign renal disease,and the staining intensity of FAP in perinephric adipose tissue had a certain distinguishing value for benign and malignant renal tumors,with AUC of 0.68(95％CI:0.60～0.77).Conclusion FAP in tumor and perinephric adipose tissue is expected to be one of the effective indicators of ccrcc risk stratification.

Objective To observe the value of Zero-Shot Noise2Noise(ZS-N2N)based on Z-axis correlation for reducing noise of low dose CT(LDCT)images.Methods CT data of the cancer imaging archive were enrolled,including normal dose CT(NDCT)images and LDCT images,with 3 sets of chest and 3 sets of abdominal images.Noise on LDCT images were reduced with ZS-N2N method based on Z-axis correlation,and the peak signal-to-noise ratio(PSNR),structural similarity(SSIM)and time-consuming of reducing noise were compared with those of Self2Self,simple ZS-N2N and traditional Block-matching and 3D filtering(BM3D).Results After reducing noise,noise on Self2Self denoised images remained significant,the structure edges on BM3D denoised images were blurry with some details lost,while simple ZS-N2N and ZS-N2N based on Z-axis correlation denoised images preserved more details and had better quality.PSNR and SSIM of Self2Self denoised images were poor and the time-consuming were longer.PSNR,SSIM and time-consuming of the other 3 methods were similar,among which PSNR of ZS-N2N based on Z-axis correlation were slightly higher than BM3D and simple ZS-N2N,but the time-consuming were also slightly longer.Conclusion ZS-N2N based on Z-axis correlation had high value for reducing noise of LDCT images.

Objective To evaluate the predictive value of global longitudinal strain(GLS)measured by cardiac magnetic resonance(CMR)feature-tracking technique for left ventricular remodeling(LVR)after percutaneous coronary intervention(PCI)in patients with acute ST-segment elevation myocardial infarction(STEMI).Methods A total of 403 patients undergoing PCI for acute STEMI were prospectively recruited from multiple centers in China.CMR examinations were performed one week(7±2 days)and 6 months after myocardial infarction to obtain GLS,global radial strain(GRS),global circumferential strain(GCS),ejection fraction(LVEF)and infarct size(IS).The primary endpoint was LVR,defined as an increase of left ventricle end-diastolic volume by≥20%or an increase of left ventricle end-systolic volume by≥15%from the baseline determined by CMR at 6 months.Logistic regression analysis was performed to evaluate the predictive value of CMR parameters for LVR.Results LVR occurred in 101 of the patients at 6 months after myocardial infarction.Compared with those without LVR(n=302),the patients in LVR group exhibited significantly higher GLS and GCS(P<0.001)and lower GRS and LVEF(P<0.001).Logistic regression analysis indicated that both GLS(OR=1.387,95%CI:1.223-1.573;P<0.001)and LVEF(OR=0.951,95%CI:0.914-0.990;P=0.015)were independent predictors of LVR.ROC curve analysis showed that at the optimal cutoff value of-10.6%,GLS had a sensitivity of 74.3%and a specificity of 71.9%for predicting LVR.The AUC of GLS was similar to that of LVEF for predicting LVR(P=0.146),but was significantly greater than those of other parameters such as GCS,GRS and IS(P<0.05);the AUC of LVEF did not differ significantly from those of the other parameters(P>0.05).Conclusion In patients receiving PCI for STEMI,GLS measured by CMR is a significant predictor of LVR occurrence with better performance than GRS,GCS,IS and LVEF.

China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.

After radiotherapy for pelvic malignancies, pelvic insufficiency fracture (PIF), as a type of late injury event for pelvic bones, cannot be ignored, because it can exert a detrimental effect on patients' quality of life, and might make patients disabled and threaten their lives. Meanwhile, PIF is likely to be misdiagnosed with bone metastases. In this article, research progresses on potential pathogenesis, general characteristics, risk factors, diagnosis and treatment for PIF were reviewed.

As early as the 20 th century, it has been observed that radiotherapy (RT), as a local therapy, can activate the adaptive immune system, resulting in spontaneous regression of tumors out of the radiation field, which is known as "abscopal effect". Although the occurrence of abscopal effect is still rare, with the gradual increase in the application of immunotherapy, more and more clinical cases of abscopal effect have been reported. Increasing attention has been paid to the therapeutic potential of RT in inducing systemic anti-tumor response. Especially, the combination of RT and immunotherapy enhances the research value of abscopal effect. However, its mechanism has not been fully elucidated, and the optimal timing, dose and fractionation of RT are also under study. How to classify the beneficiary groups is also a key issue. In this article, the history of abscopal effect, and the role of RT and immunotherapy in this phenomenon were briefly introduced, and the existing controversies in clinical application were illustrated, aiming to clarify the direction of current research and development and open a new chapter for tumor treatment in a short period of time.

Objective:To compare safety and efficacy of one-stage laparoscopic common bile duct exploration plus laparoscopic cholecystectomy (LCBDE+ LC) with endoscopic retrodrade cholangiopancreatography plus laparoscopic cholecystectomy (ERCP+ LC) in elderly patients with concomitant gallbladder and common bile duct (CBD) stones.Methods:This is a two-center retrospective study with clinical data on 492 patients aged over 80 years diagnosed with concomitant gallbladder and CBD stones treated between January, 2014 and December, 2020 at The First Affiliated Hospital of Wenzhou Medical University and Quzhou Hospital Affiliated to Wenzhou Medical University. There were 254 males and 238 females, aged (83.9±3.0) years. These patients were divided into two groups based on their operative methods: the one-stage group (LCBDE+ LC, n=186) and the two-stage group (ERCP+ LC, n=306). Differences in surgery, stones and hospitalization costs were compared between the two groups. Results:When compared with the ERCP+ LC group, the LCBDE+ LC group had significantly higher incidences of previous gastrectomy [21.5%(40/186) vs 4.2%(13/306)], multiple stones [77.4%(144/186) vs 49.3%(151/306)], larger stone diameter [13.7(6.4, 18.6)mm vs 10.9(5.7, 16.1) mm], and increased hospitalization expenditure [(2.37±0.31) Wanyuan vs (3.26±0.44) Wanyuan] (all P<0.05). However, the rates of residual stone [2.7%(5/186) vs 1.3%(4/306)], stone recurrence [2.2%(4/186) vs 5.2%(16/306)], postoperatively overall complications [3.2%(6/186) vs 1.3%(4/306)], and total hospital stay [(10.7±6.2) d vs (11.3±5.4) d] were not significantly different between the two groups (all P>0.05). Conclusions:Allowing for the similar safety and effectiveness, and lower hospitalization expenditure, LCBDE+ LC was a preferred choice for patients aged over 80 year, especially in patients who had previous gastrectomy, multiple large CBD stones, or who could not accept endoscopic procedures for treatment of CBD stones.