Objective To observe the clinical and echocardiographic manifestations of Williams syndrome(WS).Methods Two children with WS were retrospectively enrolled,and 21 cases of WS in literature were reviewed,and clinical and echocardiographic manifestations of WS were observed.Results Clinical manifestations of 23 cases including 21 cases of"elf"face,8 cases of intellectual disability,7 cases of developmental delay,7 cases of inguinal hernia,6 cases of hypothyroidism,4 cases of hypercalcemia,3 cases of urinary system abnormalities(1 case of hydrocele,1 case of ureteral dilation and tortuosity,and 1 case of kidney stones),2 cases of behavioral abnormalities,2 cases of feeding difficulties,1 case of congenital hypertrophic pyloric stenosis,1 case of binocular esotropia,1 case of hyperbilirubinemia,and 1 case of corpus callosum dysplasia.Echocardiography showed cardiovascular malformations in all 23 cases,including 20 cases of supravalvular aortic stenosis(SVAS),18 cases of pulmonary artery stenosis(PAS)and 10 cases of other cardiovascular malformations.Conclusion WS presented multiple system abnormalities in clinic,and cardiovascular malformations,especially SVAS and PAS could often be detected with echocardiography.

Objective:To summarize the clinical characteristics, diagnostic and therapeutic approaches, and prognosis of posttransplant lymphoproliferative disease (PTLD) following kidney transplantation.Methods:A retrospective case series analysis was conducted on 7 PTLD patients after kidney transplantation treated in the Department of Transplant Oncology, Tianjin First Central Hospital between January 2018 and December 2023. Clinical features, laboratory findings, imaging and pathological characteristics, treatment modalities, and outcomes were analyzed.Results:Among 7 PTLD patients, there were 5 male and 2 females with a median age of 41 (17-65) years. The median time of onset after operation was 4 (0.5-11) years. Among them, 2 patients had early onset (<1 year post-transplantation) and 5 patients had late onset (>1 year). The clinical manifestations included abdominal mass in 4 cases, anemia in 4 cases, fever in 3 cases, lymphadenopathy in 4 cases, gastrointestinal bleeding in 1 case, abdominal pain in 2 cases, and intestinal obstruction in 2 cases. Pathological types included diffuse large B-cell lymphoma in 4 cases, Burkitt lymphoma in 1 case, marginal zone lymphoma in 1 case, and polymorphic PTLD in 1 case. Reducing the immunosuppressant level was the basal treatment plan, and rituximab, chemotherapy, surgery, radiotherapy and CD19-targeted chimeric antigen receptor therapy were given according to the pathological classification. Until the date of submission, 2 patients had died, 4 had a complete response, and 1 had a partial response. None of the patients had acute rejection, and 1 patient had chronic renal insufficiency.Conclusions:PTLD after kidney transplantation presents with nonspecific manifestations, necessitating prompt imaging and histopathological evaluation for definitive diagnosis. At the same time, a series of measures should be given to improve the prognosis, including discontinuous use of anti-metabolic drugs, dosage decline of calcitric phosphatase inhibitor by 50% or convert it to sirolimus treatment, and corresponding treatment according to the specific conditions of the recipient.

Objective To investigate the value of CT radiomics for predicting effect of neoadjuvant chemotherapy(NACT)for locally advanced gastric cancer(LAGC).Methods Totally 325 LAGC patients who received NACT were retrospectively enrolled,among them 247 were taken as training set,while the rest 78 were taken as validation set.Tumor regression scale(TRG)was evaluated according to postoperation pathology after NACT,and the efficacy of NACT was evaluated.Univariate logistic regression was used to analyze and screen clinical predictors of effect of NACT,and clinical model was constructed.Radiomics features were extracted based on venous phase enhanced CT pre-and post-NACT,and Delta radiomics features(i.e.the ratio of the difference of pre-and post-NACT radiomics features and pre-NACT radiomics features)were calculated.The best features were screened based on pre-NACT,post-NACT and Delta radiomics features to construct radiomics labels,the optimal label was screened and used to construct combined model through combining clinical model.Receiver operating characteristic(ROC)curve was plotted,and the area under the curve(AUC)was calculated to evaluate predicting efficiency of the above models.Decision curve analysis(DCA)was performed to explore the clinical value of each model.Results In training set,significant effect was found in 67 cases,but not in 180 cases,while in validation set,significant effect was found in 18 cases but not in 60 cases.Borrmann classification of LAGC before NACT was the clinical predictor(P=0.031),and clinical model was constructed,which had AUC of 0.577 and 0.520 in training and validation sets,respectively.Based on pre-NACT,post-NACT and Delta radiomics features,19,14 and 17 best features were selected,and AUC of the established radiomics labels of Pre-Rad,Post-Rad and Delta-Rad in training set was 0.672,0.796 and 0.789,while in validation set was 0.558,0.805 and 0.666,respectively.Post-Rad was the optimal label,which was used to construct combined model.AUC of the obtained combined model in training and validation sets was 0.824 and 0.818,respectively,both higher than that of clinical model(both P＜0.001)but not different with that of Post-Rad(both P＞0.05).Taken 0.4 to 0.7 as the threshold,the combined model had higher clinical net benefit than the other two.Conclusion Venous CT radiomics could effectively predict effect of NACT for LAGC.Combining with clinical features could improve its predictive efficacy.

In this study,the carboxylated magnetic beads were coupled with bivalent nanobodies a-gainst porcine epidemic diarrhea virus(PEDV)M protein to construct immunomagnetic beads(IM-NBs-Ⅱ),The capture and enrichment function of IMNBs-Ⅱ was verified by using PEDV propaga-ted in Vero cells.A one-step RT-qPCR detection method for PEDV was established by combining the characteristics of IMNBs-Ⅱ with the detection advantages of reverse transcription fluorescence quantitative polymerase chain reaction(RT-qPCR).Specific analysis found that this method has no cross reactivity with swine fever virus,porcine reproductive and respiratory syndrome virus,por-cine parvovirus,porcine circovirus,indicating that it has good specificity.Sensitivity analysis re-vealed that the detection sensitivity of the RT-qPCR based on IMNBs-Ⅱ was increased 10 times compared to traditional RT-qPCR methods.Detection of the clinical samples confirm that the RT qPCR method based on IMNBs-Ⅱ is suitable for rapid and accurate detection of clinical feces and tissue samples.The method established in this study effectively avoids contamination issues during nucleic acid extraction,simplifies experimental procedures,and saves detection time,which pro-vides a method for efficient detection of PEDV.

Objective: To explore the effects of sleep on subsequent day physical activity (PA) in children and adolescents, so as to provide a reference for refining PA intervention strategies and further investigating their underlying mechanisms. Methods: Through searching databases including Web of Science Core Collection, PubMed, EBSCOhost, ScienceDirect, Cochrane Library, CNKI, Wanfang and VIP cross sectional, cohort and experimental studies on sleep and subsequent day PA among children and adolescents were identified, with the searching period spanning from database inception to June, 2025. Based on the characteristics of the included literature, two sleep variables[sleep duration (SD) and sleep efficiency (SE)] and three physical activity variables[moderate to vigorous physical activity (MVPA), light physical activity (LPA), and total physical activity (TPA)] were selected. The relationship between these two types of variables was analyzed for pooled effect sizes using Stata 17.0. Results: A total of 14 studies were included, with 64.3% published in 2018 or later, involving 11 361 children and adolescents from 17 countries. Meta analysis results showed that both SD ( ES=0.04, 95%CI =0.01-0.07) and SE ( ES=0.24, 95%CI =0.01-0.47) were positively correlated with subsequent day MVPA (both P <0.05). However, no statistically significant associations were found with LPA ( ES=-0.04, 95%CI =-0.13 to 0.06; ES=-0.02, 95%CI =-0.15 to 0.11) or TPA( ES=0.09, 95%CI =-0.02 to 0.20; ES=0.02, 95%CI = -0.03 to 0.06)(all P >0.05). Subgroup analysis revealed that in the "≤6 years" subgroup, SD and SE were positively correlated with TPA ( ES=0.22, 95%CI =0.09-0.35) and MVPA ( ES=1.19, 95%CI =1.06-1.32), respectively; in the "6-12 years" subgroup, SD was positively correlated with MVPA ( ES=0.05, 95%CI =0.02-0.08); in the "≥12 years" subgroup, SE was positively correlated with LPA ( ES=0.08, 95%CI =0.00-0.16), while SD was negatively correlated with LPA ( ES=-0.23, 95%CI = -0.31 to -0.16) (all P <0.05). Conclusion Adequate SD and good SE can effectively enhance subsequent day MVPA among children and adolescents, although these sleep effects vary by age group.

In this study,the carboxylated magnetic beads were coupled with bivalent nanobodies a-gainst porcine epidemic diarrhea virus(PEDV)M protein to construct immunomagnetic beads(IM-NBs-Ⅱ),The capture and enrichment function of IMNBs-Ⅱ was verified by using PEDV propaga-ted in Vero cells.A one-step RT-qPCR detection method for PEDV was established by combining the characteristics of IMNBs-Ⅱ with the detection advantages of reverse transcription fluorescence quantitative polymerase chain reaction(RT-qPCR).Specific analysis found that this method has no cross reactivity with swine fever virus,porcine reproductive and respiratory syndrome virus,por-cine parvovirus,porcine circovirus,indicating that it has good specificity.Sensitivity analysis re-vealed that the detection sensitivity of the RT-qPCR based on IMNBs-Ⅱ was increased 10 times compared to traditional RT-qPCR methods.Detection of the clinical samples confirm that the RT qPCR method based on IMNBs-Ⅱ is suitable for rapid and accurate detection of clinical feces and tissue samples.The method established in this study effectively avoids contamination issues during nucleic acid extraction,simplifies experimental procedures,and saves detection time,which pro-vides a method for efficient detection of PEDV.

Objective To observe the clinical and echocardiographic manifestations of Williams syndrome(WS).Methods Two children with WS were retrospectively enrolled,and 21 cases of WS in literature were reviewed,and clinical and echocardiographic manifestations of WS were observed.Results Clinical manifestations of 23 cases including 21 cases of"elf"face,8 cases of intellectual disability,7 cases of developmental delay,7 cases of inguinal hernia,6 cases of hypothyroidism,4 cases of hypercalcemia,3 cases of urinary system abnormalities(1 case of hydrocele,1 case of ureteral dilation and tortuosity,and 1 case of kidney stones),2 cases of behavioral abnormalities,2 cases of feeding difficulties,1 case of congenital hypertrophic pyloric stenosis,1 case of binocular esotropia,1 case of hyperbilirubinemia,and 1 case of corpus callosum dysplasia.Echocardiography showed cardiovascular malformations in all 23 cases,including 20 cases of supravalvular aortic stenosis(SVAS),18 cases of pulmonary artery stenosis(PAS)and 10 cases of other cardiovascular malformations.Conclusion WS presented multiple system abnormalities in clinic,and cardiovascular malformations,especially SVAS and PAS could often be detected with echocardiography.

Objective To investigate the value of CT radiomics for predicting effect of neoadjuvant chemotherapy(NACT)for locally advanced gastric cancer(LAGC).Methods Totally 325 LAGC patients who received NACT were retrospectively enrolled,among them 247 were taken as training set,while the rest 78 were taken as validation set.Tumor regression scale(TRG)was evaluated according to postoperation pathology after NACT,and the efficacy of NACT was evaluated.Univariate logistic regression was used to analyze and screen clinical predictors of effect of NACT,and clinical model was constructed.Radiomics features were extracted based on venous phase enhanced CT pre-and post-NACT,and Delta radiomics features(i.e.the ratio of the difference of pre-and post-NACT radiomics features and pre-NACT radiomics features)were calculated.The best features were screened based on pre-NACT,post-NACT and Delta radiomics features to construct radiomics labels,the optimal label was screened and used to construct combined model through combining clinical model.Receiver operating characteristic(ROC)curve was plotted,and the area under the curve(AUC)was calculated to evaluate predicting efficiency of the above models.Decision curve analysis(DCA)was performed to explore the clinical value of each model.Results In training set,significant effect was found in 67 cases,but not in 180 cases,while in validation set,significant effect was found in 18 cases but not in 60 cases.Borrmann classification of LAGC before NACT was the clinical predictor(P=0.031),and clinical model was constructed,which had AUC of 0.577 and 0.520 in training and validation sets,respectively.Based on pre-NACT,post-NACT and Delta radiomics features,19,14 and 17 best features were selected,and AUC of the established radiomics labels of Pre-Rad,Post-Rad and Delta-Rad in training set was 0.672,0.796 and 0.789,while in validation set was 0.558,0.805 and 0.666,respectively.Post-Rad was the optimal label,which was used to construct combined model.AUC of the obtained combined model in training and validation sets was 0.824 and 0.818,respectively,both higher than that of clinical model(both P＜0.001)but not different with that of Post-Rad(both P＞0.05).Taken 0.4 to 0.7 as the threshold,the combined model had higher clinical net benefit than the other two.Conclusion Venous CT radiomics could effectively predict effect of NACT for LAGC.Combining with clinical features could improve its predictive efficacy.

Objective:To summarize the clinical characteristics, diagnostic and therapeutic approaches, and prognosis of posttransplant lymphoproliferative disease (PTLD) following kidney transplantation.Methods:A retrospective case series analysis was conducted on 7 PTLD patients after kidney transplantation treated in the Department of Transplant Oncology, Tianjin First Central Hospital between January 2018 and December 2023. Clinical features, laboratory findings, imaging and pathological characteristics, treatment modalities, and outcomes were analyzed.Results:Among 7 PTLD patients, there were 5 male and 2 females with a median age of 41 (17-65) years. The median time of onset after operation was 4 (0.5-11) years. Among them, 2 patients had early onset (<1 year post-transplantation) and 5 patients had late onset (>1 year). The clinical manifestations included abdominal mass in 4 cases, anemia in 4 cases, fever in 3 cases, lymphadenopathy in 4 cases, gastrointestinal bleeding in 1 case, abdominal pain in 2 cases, and intestinal obstruction in 2 cases. Pathological types included diffuse large B-cell lymphoma in 4 cases, Burkitt lymphoma in 1 case, marginal zone lymphoma in 1 case, and polymorphic PTLD in 1 case. Reducing the immunosuppressant level was the basal treatment plan, and rituximab, chemotherapy, surgery, radiotherapy and CD19-targeted chimeric antigen receptor therapy were given according to the pathological classification. Until the date of submission, 2 patients had died, 4 had a complete response, and 1 had a partial response. None of the patients had acute rejection, and 1 patient had chronic renal insufficiency.Conclusions:PTLD after kidney transplantation presents with nonspecific manifestations, necessitating prompt imaging and histopathological evaluation for definitive diagnosis. At the same time, a series of measures should be given to improve the prognosis, including discontinuous use of anti-metabolic drugs, dosage decline of calcitric phosphatase inhibitor by 50% or convert it to sirolimus treatment, and corresponding treatment according to the specific conditions of the recipient.

Objective:To investigate the role of RNA m6A methylation in mediating cerebellar dysplasia through analyzing the phenotypes of the mouse cerebella and the expression of several key m6A regulators upon hypobaric hypoxia treatment.Methods:Five-day old C57/BL6 mice were exposed to hypobaric hypoxia for 9 days. The status of mouse cerebellar development was analyzed by comparing the body weights, brain weights and histological features. Immunostaining of cell-type-specific markers was performed to analyze the cerebellar morphology. Real-time PCR, Western blot and immunohistochemical staining were performed to detect the expression of key m6A regulators in the mouse cerebella.Results:Compared with the control, the body weights, brain weights and cerebellar volumes of hypobaric hypoxic mice were significantly reduced ( P<0.01). The expression of specific markers in different cells, including NeuN (mature neuron), Calbindin-D28K (Purkinje cell) and GFAP (astrocyte), was decreased in hypobaric hypoxic mouse cerebella ( P<0.01), accompanied with disorganized cellular structure. The expression of methyltransferase METTL3 was significantly down-regulated in the cerebella of hypobaric hypoxic mice ( P<0.05). Conclusions:Hypobaric hypoxia stimulation causes mouse cerebellar dysplasia, with structural abnormalities in mature granular neurons, Purkinje cells and astrocytes. Expression of METTL3 is decreased in hypobaric hypoxic mice cerebellum compared with that of normobaric normoxic mice, suggesting that its mediated RNA m6A methylation may play an important role in hypobaric hypoxia-induced mouse cerebellar dysplasia.