Gastroblastoma (GB) is a rare gastric epithelial tumor without special clinical manifestations, whose histologic origin and pathogenesis remain unclear due to less related reports.Low-grade cell forms with biphasic differentiation are typical histological characteristics of GB.Immunohistochemistry and molecular tests can help with its differential diagnosis.GB is an invasive low-grade malignant tumor and the first treatment is surgical resection.However, there is no uniform standard treatment plan at present and most patients have a good prognosis.In this article, the histopathology, diagnosis and identification diagnosis of GB was reviewed to provide a theoretical basis for its origin, development, treatment and patient prognosis.

BACKGROUND: The available evidence regarding the benefits of percutaneous coronary intervention (PCI) on patients receiving dialysis with coronary artery disease (CAD) is limited and inconsistent. This study aimed to evaluate the association between PCI and clinical outcomes as compared with medical therapy alone in patients undergoing dialysis with CAD in China. METHODS: This multicenter, retrospective study was conducted in 30 tertiary medical centers across 12 provinces in China from January 2015 to June 2021 to include patients on dialysis with CAD. The primary outcome was major adverse cardiovascular events (MACE), defined as a composite of cardiovascular death, non-fatal myocardial infarction, and non-fatal stroke. Secondary outcomes included all-cause death, the individual components of MACE, and Bleeding Academic Research Consortium criteria types 2, 3, or 5 bleeding. Multivariable Cox proportional hazard models were used to assess the association between PCI and outcomes. Inverse probability of treatment weighting (IPTW) and propensity score matching (PSM) were performed to account for potential between-group differences. RESULTS: Of the 1146 patients on dialysis with significant CAD, 821 (71.6%) underwent PCI. After a median follow-up of 23.0 months, PCI was associated with a 43.0% significantly lower risk for MACE (33.9% [ n  = 278] vs . 43.7% [ n  = 142]; adjusted hazards ratio 0.57, 95% confidence interval 0.45-0.71), along with a slightly increased risk for bleeding outcomes that did not reach statistical significance (11.1% vs . 8.3%; adjusted hazards ratio 1.31, 95% confidence interval, 0.82-2.11). Furthermore, PCI was associated with a significant reduction in all-cause and cardiovascular mortalities. Subgroup analysis did not modify the association of PCI with patient outcomes. These primary findings were consistent across IPTW, PSM, and competing risk analyses. CONCLUSION This study indicated that PCI in patients on dialysis with CAD was significantly associated with lower MACE and mortality when comparing with those with medical therapy alone, albeit with a slightly increased risk for bleeding events that did not reach statistical significance.
Humans ; Percutaneous Coronary Intervention/methods* ; Male ; Female ; Coronary Artery Disease/drug therapy* ; Retrospective Studies ; Renal Dialysis/methods* ; Middle Aged ; Aged ; China ; Proportional Hazards Models ; Treatment Outcome

Objective:To explore the structural equation model to explore the levels of work-related musculoskeletal disorders (WMSDs) and various risk factors in the feet and ankle of China's occupational population, providing scientific basis for for preventing WMSDs in feet and ankles.Methods:Data of 73497 national occupational epidemiological cases were selected from June 2018 to December 2023 used the Chinese version of the Electronic Questionnaire on Musculoskeletal Disorders. The adverse ergonomic factors and their source classification standard and confirmatory factor analysis were used to investigate foot and ankle WMSDs and their related risk factors (including individual factors, work organization, work posture, work type, fatigue, etc.) in key occupational groups in China, and structural equation model hypothesis, fitting, verification, and path and intermediary effect analysis were carried out. The model fit evaluation indexes included Chi-square specific degrees of freedom ( χ2/ df), gauge fit index (NFI), Tucker Lewis index (TLI), goodness of Fit index (GFI), adjusted Goodness of Fit index (AGFI) and approximate root mean square error (RMSEA) . Results:A total of 73497 occupational workers were surveyed, with local muscle fatigue and WMSDs incidence rates in the feet and ankles being 17.17% and 12.06%, respectively. The fitting index of the adjusted structural equation model basically meets the standard (GFI=1, AGFI=1, RMESA=0.042, NFI=0.716, TLI=0.663). The top three factors affecting feet and ankle WMSDs are feet and ankle muscle fatigue, work type, and work organization, with standardized path coefficients of 0.221, 0.105, and 0.095, respectively. The top two factors affecting feet and ankle muscle fatigue are work organization and work type, with standardized path coefficients of 0.548 and 0.383, respectively. Feet and ankle muscle fatigue, work type, work organization, and work posture have a direct effect on feet and ankle WMSDs, with effect values of 0.221, 0.105, 0.095, and 0.077, respectively. The organization and type of work can also have indirect effects through feet and ankle muscle fatigue, with effect values of 0.121 and 0.084, respectively.Conclusion:Feet and ankle muscle fatigue has a direct impact on WMSDs, and plays a mediating role between ankle and ankle WMSDs caused by work organization and work type. Feet and ankle muscle fatigue is an important pathway leading to feet and ankle WMSDs. It is recommended that employers and managers detect job fatigue early and take corresponding prevention and intervention measures, which can play a key role in preventing feet and ankle WMSDs.

Objective:To investigate the screening, clinical and genetic characteristics and prognosis of hereditary tyrosinemia type Ⅰ (HT-Ⅰ) in some areas of Shanghai, and to summarize the relevant characteristics of Chinese cases reported at home and abroad.Methods:From December 2010 to May 2023, the clinical data of children diagnosed with HT-Ⅰ by tandem mass spectrometry combined with genetic detection in Neonatal Screening Center of Shanghai Children′s Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:A total of 282 149 neonates were screened for genetic metabolic disease by tandem mass spectrometry, and 1 case of HT-Ⅰ was diagnosed, with an incidence of 1∶282 149. Complex heterozygous mutations of FAH genes c. 974C>T and c. 22G>T were found by genetic testing. c. 22G>T was not reported as a new mutation. Diet and drug therapy were given immediately after diagnosis. At present, the follow-up was up to 8 months, and the physical and intellectual development were normal. A total of 32 literatures meeting the inclusion criteria were obtained through database search, and 46 cases of HT-Ⅰ Chinese children were reported. Most of the clinical manifestations were abdominal distension, poor appetite, jaundice, etc., accompanied by different degrees of abnormal coagulation function, hepatosplenomegalysis, cirrhosis and even liver failure. A total of 25 alleles were reported, and the variation of c. 455G>A was the most common. Conclusions:HT-Ⅰ is rare in the population of Shanghai, China, and new mutations enrich the variation spectrum of HT-Ⅰ, which provides basis for family genetic counseling and prenatal diagnosis of children.

Objective:To explore the structural equation model to explore the levels of work-related musculoskeletal disorders (WMSDs) and various risk factors in the feet and ankle of China's occupational population, providing scientific basis for for preventing WMSDs in feet and ankles.Methods:Data of 73497 national occupational epidemiological cases were selected from June 2018 to December 2023 used the Chinese version of the Electronic Questionnaire on Musculoskeletal Disorders. The adverse ergonomic factors and their source classification standard and confirmatory factor analysis were used to investigate foot and ankle WMSDs and their related risk factors (including individual factors, work organization, work posture, work type, fatigue, etc.) in key occupational groups in China, and structural equation model hypothesis, fitting, verification, and path and intermediary effect analysis were carried out. The model fit evaluation indexes included Chi-square specific degrees of freedom ( χ2/ df), gauge fit index (NFI), Tucker Lewis index (TLI), goodness of Fit index (GFI), adjusted Goodness of Fit index (AGFI) and approximate root mean square error (RMSEA) . Results:A total of 73497 occupational workers were surveyed, with local muscle fatigue and WMSDs incidence rates in the feet and ankles being 17.17% and 12.06%, respectively. The fitting index of the adjusted structural equation model basically meets the standard (GFI=1, AGFI=1, RMESA=0.042, NFI=0.716, TLI=0.663). The top three factors affecting feet and ankle WMSDs are feet and ankle muscle fatigue, work type, and work organization, with standardized path coefficients of 0.221, 0.105, and 0.095, respectively. The top two factors affecting feet and ankle muscle fatigue are work organization and work type, with standardized path coefficients of 0.548 and 0.383, respectively. Feet and ankle muscle fatigue, work type, work organization, and work posture have a direct effect on feet and ankle WMSDs, with effect values of 0.221, 0.105, 0.095, and 0.077, respectively. The organization and type of work can also have indirect effects through feet and ankle muscle fatigue, with effect values of 0.121 and 0.084, respectively.Conclusion:Feet and ankle muscle fatigue has a direct impact on WMSDs, and plays a mediating role between ankle and ankle WMSDs caused by work organization and work type. Feet and ankle muscle fatigue is an important pathway leading to feet and ankle WMSDs. It is recommended that employers and managers detect job fatigue early and take corresponding prevention and intervention measures, which can play a key role in preventing feet and ankle WMSDs.

Objective:To analyze the differences in screening neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency in different birth seasons, establish screening thresholds for G6PD concentration in each season using indirect methods, and verify the reliability of the results.Methods:This was a cross-sectional study.A total of 140 823 newborns were collected from the Neonatal Screening Center of Shanghai Children′s Hospital from January 2020 to December 2023, including 41 029 cases, 35 796 cases, 33 969 cases and 30 029 cases in spring, summer, autumn and winter groups, respectively.The concentration of G6PD on the dried blood filter paper was determined using an automatic fluorescence analyzer.The distribution and statistical index of concentration values in four seasons were analyzed.The Kolmogorov-Smirnov test was used for normal distribution.The skewed distribution data was converted into approximately normal distribution using Box-Cox.Outliers were eliminated using the interquartile range (Turkey) method.The cumulative frequency distribution map was drawn through R language programming.The linear regression equation Y=B X+ A was fitted.The 0.5th percentile ( P0.5) was used as the screening threshold, which was compared with the reference value given by the manufacturer or laboratory and with the reference change value (RCV). Results:In the spring group, the positive rate was 4.02‰, 91 cases were confirmed, and the incidence was 1∶451.In the summer group, the positive rate was 7.18‰, 90 cases were confirmed, and the incidence was 1∶398.In the autumn group, the positive rate was 3.21‰, 86 cases were confirmed, and the incidence was 1∶395.In the winter group, the positive rate was 2.26‰, 61 cases were confirmed, and the incidence was 1∶492.The incidence rate did not change significantly in the four seasons ( P>0.05).The G6PD concentrations in the four seasons were compared in pairs, and the result was winter>autumn>spring>summer.The thresholds for G6PD screening were established indirectly: 25.08 U/dL, 22.83 U/dL, 26.63 U/dL and 38.01 U/dL in spring, summer, autumn and winter groups, respectively.The relative deviation in the threshold between the summer group and the laboratory was lower than RCV, while that between the other groups was higher than RCV.According to the screening threshold, the negative and positive conformity rates of 12 batches of 120 samples in the inter-laboratory evaluation program of Chinese Taiwan Preventive Medicine Foundation of China reached 100%. Conclusions:There is no difference in the incidence of G6PD deficiency between birth seasons.It is feasible to establish the screening threshold in each season using indirect methods, which is conducive to improving the efficiency of screening.

Objective:To analyze the differences in screening neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency in different birth seasons, establish screening thresholds for G6PD concentration in each season using indirect methods, and verify the reliability of the results.Methods:This was a cross-sectional study.A total of 140 823 newborns were collected from the Neonatal Screening Center of Shanghai Children′s Hospital from January 2020 to December 2023, including 41 029 cases, 35 796 cases, 33 969 cases and 30 029 cases in spring, summer, autumn and winter groups, respectively.The concentration of G6PD on the dried blood filter paper was determined using an automatic fluorescence analyzer.The distribution and statistical index of concentration values in four seasons were analyzed.The Kolmogorov-Smirnov test was used for normal distribution.The skewed distribution data was converted into approximately normal distribution using Box-Cox.Outliers were eliminated using the interquartile range (Turkey) method.The cumulative frequency distribution map was drawn through R language programming.The linear regression equation Y=B X+ A was fitted.The 0.5th percentile ( P0.5) was used as the screening threshold, which was compared with the reference value given by the manufacturer or laboratory and with the reference change value (RCV). Results:In the spring group, the positive rate was 4.02‰, 91 cases were confirmed, and the incidence was 1∶451.In the summer group, the positive rate was 7.18‰, 90 cases were confirmed, and the incidence was 1∶398.In the autumn group, the positive rate was 3.21‰, 86 cases were confirmed, and the incidence was 1∶395.In the winter group, the positive rate was 2.26‰, 61 cases were confirmed, and the incidence was 1∶492.The incidence rate did not change significantly in the four seasons ( P>0.05).The G6PD concentrations in the four seasons were compared in pairs, and the result was winter>autumn>spring>summer.The thresholds for G6PD screening were established indirectly: 25.08 U/dL, 22.83 U/dL, 26.63 U/dL and 38.01 U/dL in spring, summer, autumn and winter groups, respectively.The relative deviation in the threshold between the summer group and the laboratory was lower than RCV, while that between the other groups was higher than RCV.According to the screening threshold, the negative and positive conformity rates of 12 batches of 120 samples in the inter-laboratory evaluation program of Chinese Taiwan Preventive Medicine Foundation of China reached 100%. Conclusions:There is no difference in the incidence of G6PD deficiency between birth seasons.It is feasible to establish the screening threshold in each season using indirect methods, which is conducive to improving the efficiency of screening.

Gastroblastoma (GB) is a rare gastric epithelial tumor without special clinical manifestations, whose histologic origin and pathogenesis remain unclear due to less related reports.Low-grade cell forms with biphasic differentiation are typical histological characteristics of GB.Immunohistochemistry and molecular tests can help with its differential diagnosis.GB is an invasive low-grade malignant tumor and the first treatment is surgical resection.However, there is no uniform standard treatment plan at present and most patients have a good prognosis.In this article, the histopathology, diagnosis and identification diagnosis of GB was reviewed to provide a theoretical basis for its origin, development, treatment and patient prognosis.

Objective:To investigate the screening, clinical and genetic characteristics and prognosis of hereditary tyrosinemia type Ⅰ (HT-Ⅰ) in some areas of Shanghai, and to summarize the relevant characteristics of Chinese cases reported at home and abroad.Methods:From December 2010 to May 2023, the clinical data of children diagnosed with HT-Ⅰ by tandem mass spectrometry combined with genetic detection in Neonatal Screening Center of Shanghai Children′s Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:A total of 282 149 neonates were screened for genetic metabolic disease by tandem mass spectrometry, and 1 case of HT-Ⅰ was diagnosed, with an incidence of 1∶282 149. Complex heterozygous mutations of FAH genes c. 974C>T and c. 22G>T were found by genetic testing. c. 22G>T was not reported as a new mutation. Diet and drug therapy were given immediately after diagnosis. At present, the follow-up was up to 8 months, and the physical and intellectual development were normal. A total of 32 literatures meeting the inclusion criteria were obtained through database search, and 46 cases of HT-Ⅰ Chinese children were reported. Most of the clinical manifestations were abdominal distension, poor appetite, jaundice, etc., accompanied by different degrees of abnormal coagulation function, hepatosplenomegalysis, cirrhosis and even liver failure. A total of 25 alleles were reported, and the variation of c. 455G>A was the most common. Conclusions:HT-Ⅰ is rare in the population of Shanghai, China, and new mutations enrich the variation spectrum of HT-Ⅰ, which provides basis for family genetic counseling and prenatal diagnosis of children.

Objective:To explore the clinical, biochemical and genetic characteristics of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes. Methods:Two children with 17β hydroxysteroid dehydrogenase 10 (HSD17B10) deficiency and a child with β-ketothiolase deficiency (BKD) diagnosed at Shanghai Children′s Hospital between 2014 and 2021 were selected as the study subjects. Clinical data of the children were collected. The children were subjected to blood acylcarnitine, urinary organic acid and genetic testing, and candidate variants were analyzed with bioinformatic tools.Results:The main symptoms of the three children had included epilepsy, developmental delay, hypotonia and acidosis. Their blood acylcarnitine methylcrotonyl carnitine (C5: 1), 3-hydroxyisovalerylcarnitine (C5-OH) and 3-hydroxybutylcarnitine (C4OH) were increased to various extents, and urine organic acids including methyl crotonylglycine and 2-methyl-3-hydroxybutyric acid were significantly increased. Child 1 and child 2 were respectively found to harbor a c. 347G>A (p.R116Q) variant and a c. 274G>A (p.A92T) variant of the HSD17B10 gene, and child 3 was found to harbor compound heterozygous variants of the ACAT1 gene, namely c. 547G>A (p.G183R) and a c. 331G>C (p.A111P). Among these, the c. 274G>A (p.A92T) and c. 331G>C (p.A111P) variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variant of unknown significance (PP3_Strong+ PM2_supporting) and likely pathogenic (PM3+ PM2_Supporting+ PP3_Moderate+ PP4). Conclusion:Both the HSD17B10 deficiency and BKD can lead to Isoleucine metabolism disorders, which may be difficult to distinguish clinically. Genetic testing can further confirm the diagnosis. Discoveries of the HSD17B10: c. 274G>A (p.A92T) variant and the ACAT1: c. 331G>C (p.A111P) variant have enriched the mutational spectrum of the two diseases.