Objective:To explore the clinical features and management of a child with Chitayat syndrome.Methods:A child presented at the Fengqing People′s Hospital on August 8 2019 was selected as the study subject. Clinical data of the child were retrospectively analyzed. Peripheral blood samples were collected from the child, father and sister. Whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genome Browser, AlphaFold, and PolyPhen-2 were employed for protein structure simulation and amino acid sequence conservation analysis. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Literature was retrieved from databases including CNKI, Wanfang, and PubMed using the keyword "Chitayat syndrome". The clinical characteristics and prognosis of patients with Chitayat syndrome were reviewed and analyzed. This study was approved by the Ethics Committee the Seventh Affiliated Hospital of Sun Yat-sen University (Ethics No.: KY-2024-086-01).Results:The child was born at full term and had special facial features, skeletal abnormalities, recurrent respiratory tract infections and global developmental delay. WES and Sanger sequencing revealed that she has harbored a heterozygous c. 266A>G p. (Tyr89Cys) variant of the ERF gene. Protein structure modeling suggested that the mutant protein has increased spatial distance between the side chain group and DNA, which may reduce its binding affinity to DNA. Amino acid sequence analysis indicated that the p. Tyr89 residue is highly conserved across multiple species. The variant was therefore classified as pathogenic (PM1+ PM2_Supporting+ PM6+ PS1+ PP3). The patient was diagnosed with "Chitayat syndrome". Nutritional support and rehabilitation training were recommended, though the child had died of severe pneumonia at 13 months old. Literature retrieval has collected 7 relevant articles, which involved 14 cases of Chitayat syndrome confirmed by genetic testing. Together with our case, all patients had facial dysmorphisms and skeletal deformities. Fourteen patients (93.3%) had respiratory distress. Seven of them (46.7%) had recurrent respiratory infections and 7 (46.7%) were confirmed with respiratory tract malacia. Eight (53.3%) patients had neuropsychological retardation, while 8 (53.3%) had growth delay. The main interventions for Chitayat syndrome include respiratory and nutritional support, and rehabilitation training for developmental delays. Conclusion:Chitayat syndrome is rarely seen and its clinical manifestations may vary. Airway management and early intervention of developmental delay are important for improving the prognosis.

OBJECTIVE: To explore the clinical features and management of a child with Chitayat syndrome. METHODS: A child presented at the Fengqing People's Hospital on August 8 2019 was selected as the study subject. Clinical data of the child were retrospectively analyzed. Peripheral blood samples were collected from the child and his father and sister. Whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genome Browser, AlphaFold, and PolyPhen-2 were employed for protein structure simulation and amino acid sequence conservation analysis. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Literature was retrieved from databases including CNKI, Wanfang, and PubMed using the keyword "Chitayat syndrome". The clinical characteristics and prognosis of patients with Chitayat syndrome were reviewed and analyzed. This study was approved by the Ethics Committee the Seventh Affiliated Hospital of Sun Yat-sen University (Ethics No.: KY-2024-086-01). RESULTS: The child was born at full term and had special facial features, skeletal abnormalities, recurrent respiratory tract infections and global developmental delay. WES and Sanger sequencing revealed that he has harbored a heterozygous c.266A>G p.(Tyr89Cys) variant of the ERF gene. Protein structure modeling suggested that the mutant protein has increased spatial distance between the side chain group and DNA, which may reduce its binding affinity to DNA. Amino acid sequence analysis indicated that the p.Tyr89 residue is highly conserved across multiple species. The variant was therefore classified as pathogenic (PM1+PM2_Supporting+PM6+PS1+PP3). The patient was diagnosed with "Chitayat syndrome". Nutritional support and rehabilitation training were recommended, though the child had died of severe pneumonia at 13 months old. Literature retrieval has collected 7 relevant articles, which involved 14 cases of Chitayat syndrome confirmed by genetic testing. Together with our case, all patients had facial dysmorphisms and skeletal deformities. Fourteen patients (93.3%) had respiratory distress. Seven of them (46.7%) had recurrent respiratory infections and 7 (46.7%) were confirmed with respiratory tract malacia. Eight (53.3%) patients had neuropsychological retardation, while 8 (53.3%) had growth delay. The main interventions for Chitayat syndrome include respiratory and nutritional support, and rehabilitation training for developmental delays. CONCLUSION Chitayat syndrome is rarely seen and its clinical manifestations may vary. Airway management and early intervention of developmental delay are important for improving the prognosis.
Humans ; Male ; Exome Sequencing ; Female ; Mutation ; Child, Preschool ; Infant ; Developmental Disabilities/genetics*

Objective To explore the role of ferroptosis in DIC through bioinformatics analysis of hub genes involved in ferroptosis in doxorubicin-induced cardiomyopathy(DIC),combined with in vitro experimental validation.Methods Divalent iron fluorescence staining confirms the occurrence of ferroptosis in myocardial cells of DIC.The GSE207737 dataset was retrieved from the Gene Expression Comprehensive Database(GEO)and intersected with the FerrDb database to identify ferroptosis-related genes.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses of the intersected genes and intersecting the genes obtained from LASSO regression analysis and SVM-SFR machine learning methods were used to obtain ferroptosis hub genes for DIC.Real-time PCR was used to validate H9C2 cells in the control and DIC model groups,and Western blotting was used to further validate those whose bioinformatics and real-time PCR results that did not match.Results Thirty-eight ferroptosis-related genes in DIC were identified,and GO and KEGG analyses showed that these genes mainly participate in cell metabolism.Five hub genes for ferroptosis in DIC were obtained using machine learning methods:Mpc1,Prdx1,Kdm4a,Alox 12b,and Tfrc.Through in vitro experiments,the mRNA expression levels of Mpc1,Prdx1,and Kdm4a were downregulated in the DIC model group compared to those in the control group(P＜0.001),whereas the mRNA expression level of Alox12b was upregulated(P＜0.001).There were no significant differences in the mRNA or protein expression levels of Tfrc(P＞0.05).Conclusion Mpc1,Prdx1,Kdm4a,and Alox12b are key genes involved in ferroptosis in doxorubicin-induced cardiomyopathy and potential targets for the prevention and treatment of doxorubicin-induced cardiomyopathy in ferroptosis.

Objective:To explore the risk factors of pneumoconiosis complicated with pulmonary tuberculosis, to construct a clinical prediction model for patients with pneumoconiosis complicated with pulmonary tuberculosis, and to provide a scientific basis for the prevention of pneumoconiosis complicated with pulmonary tuberculosis.Methods:In January 2024, a total of 232 patients with pneumoconiosis (including coal workers' pneumoconiosis and silicosis) who were treated in the Department of Respiratory and Critical Care Medicine of the Third People's Hospital of Xinjiang Uygur Autonomous Region (Xinjiang Uygur Autonomous Region Occupational Disease Hospital) from January 2022 to January 2023 were randomly selected as the study subjects. Collectted basic patient information and diagnostic data. Multivariate logistic regression analysis was used to screen the risk factors related to pneumoconiosis complicated with pulmonary tuberculosis. According to the results of multivariate logistic regression analysis, a nomogram was established, and the area under the receiver operating characteristic (ROC) curve (AUC), calibration curve and decision curve analysis (DCA) were used to evaluate the predictive ability.Results:Among the 232 patients with pneumoconiosis, 73 were complicated with pulmonary tuberculosis, accounting for 31.47% (73/232). Multivariate logistic regression analysis determined that dust exposure time, type of work, smoking history, and lung function level were all risk factors for pneumoconiosis complicated with tuberculosis ( OR=10.33, 95% CI=1.92~55.66, OR=5.43, 95% CI=1.91~15.44, OR=3.10, 95% CI=1.15~8.37, OR=4.00, 95% CI=1.62~9.87; P<0.05). The constructed nomogram model has good clinical applicability when the area under the receiver operating characteristic (ROC) curve is 0.77 [95% CI (0.69, 0.73) ], the calibration curve is close to the ideal diagonal, the absolute error between the simulation curve and the actual curve is 0.03, and the DCA decision curve shows that the probability threshold of the nomogram model is 1%-90%. Conclusion:The risk of pneumoconiosis complicated with tuberculosis is high, and the risk factors of dust exposure time, smoking history, type of work and lung function level are high. This nomogram model can be used to predict the risk of pulmonary tuberculosis in patients with pneumoconiosis, which is helpful for early intervention.

Objective To explore the role of ferroptosis in DIC through bioinformatics analysis of hub genes involved in ferroptosis in doxorubicin-induced cardiomyopathy(DIC),combined with in vitro experimental validation.Methods Divalent iron fluorescence staining confirms the occurrence of ferroptosis in myocardial cells of DIC.The GSE207737 dataset was retrieved from the Gene Expression Comprehensive Database(GEO)and intersected with the FerrDb database to identify ferroptosis-related genes.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses of the intersected genes and intersecting the genes obtained from LASSO regression analysis and SVM-SFR machine learning methods were used to obtain ferroptosis hub genes for DIC.Real-time PCR was used to validate H9C2 cells in the control and DIC model groups,and Western blotting was used to further validate those whose bioinformatics and real-time PCR results that did not match.Results Thirty-eight ferroptosis-related genes in DIC were identified,and GO and KEGG analyses showed that these genes mainly participate in cell metabolism.Five hub genes for ferroptosis in DIC were obtained using machine learning methods:Mpc1,Prdx1,Kdm4a,Alox 12b,and Tfrc.Through in vitro experiments,the mRNA expression levels of Mpc1,Prdx1,and Kdm4a were downregulated in the DIC model group compared to those in the control group(P＜0.001),whereas the mRNA expression level of Alox12b was upregulated(P＜0.001).There were no significant differences in the mRNA or protein expression levels of Tfrc(P＞0.05).Conclusion Mpc1,Prdx1,Kdm4a,and Alox12b are key genes involved in ferroptosis in doxorubicin-induced cardiomyopathy and potential targets for the prevention and treatment of doxorubicin-induced cardiomyopathy in ferroptosis.

Objective:To explore the clinical features and management of a child with Chitayat syndrome.Methods:A child presented at the Fengqing People′s Hospital on August 8 2019 was selected as the study subject. Clinical data of the child were retrospectively analyzed. Peripheral blood samples were collected from the child, father and sister. Whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genome Browser, AlphaFold, and PolyPhen-2 were employed for protein structure simulation and amino acid sequence conservation analysis. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Literature was retrieved from databases including CNKI, Wanfang, and PubMed using the keyword "Chitayat syndrome". The clinical characteristics and prognosis of patients with Chitayat syndrome were reviewed and analyzed. This study was approved by the Ethics Committee the Seventh Affiliated Hospital of Sun Yat-sen University (Ethics No.: KY-2024-086-01).Results:The child was born at full term and had special facial features, skeletal abnormalities, recurrent respiratory tract infections and global developmental delay. WES and Sanger sequencing revealed that she has harbored a heterozygous c. 266A>G p. (Tyr89Cys) variant of the ERF gene. Protein structure modeling suggested that the mutant protein has increased spatial distance between the side chain group and DNA, which may reduce its binding affinity to DNA. Amino acid sequence analysis indicated that the p. Tyr89 residue is highly conserved across multiple species. The variant was therefore classified as pathogenic (PM1+ PM2_Supporting+ PM6+ PS1+ PP3). The patient was diagnosed with "Chitayat syndrome". Nutritional support and rehabilitation training were recommended, though the child had died of severe pneumonia at 13 months old. Literature retrieval has collected 7 relevant articles, which involved 14 cases of Chitayat syndrome confirmed by genetic testing. Together with our case, all patients had facial dysmorphisms and skeletal deformities. Fourteen patients (93.3%) had respiratory distress. Seven of them (46.7%) had recurrent respiratory infections and 7 (46.7%) were confirmed with respiratory tract malacia. Eight (53.3%) patients had neuropsychological retardation, while 8 (53.3%) had growth delay. The main interventions for Chitayat syndrome include respiratory and nutritional support, and rehabilitation training for developmental delays. Conclusion:Chitayat syndrome is rarely seen and its clinical manifestations may vary. Airway management and early intervention of developmental delay are important for improving the prognosis.

Objective:To explore the risk factors of pneumoconiosis complicated with pulmonary tuberculosis, to construct a clinical prediction model for patients with pneumoconiosis complicated with pulmonary tuberculosis, and to provide a scientific basis for the prevention of pneumoconiosis complicated with pulmonary tuberculosis.Methods:In January 2024, a total of 232 patients with pneumoconiosis (including coal workers' pneumoconiosis and silicosis) who were treated in the Department of Respiratory and Critical Care Medicine of the Third People's Hospital of Xinjiang Uygur Autonomous Region (Xinjiang Uygur Autonomous Region Occupational Disease Hospital) from January 2022 to January 2023 were randomly selected as the study subjects. Collectted basic patient information and diagnostic data. Multivariate logistic regression analysis was used to screen the risk factors related to pneumoconiosis complicated with pulmonary tuberculosis. According to the results of multivariate logistic regression analysis, a nomogram was established, and the area under the receiver operating characteristic (ROC) curve (AUC), calibration curve and decision curve analysis (DCA) were used to evaluate the predictive ability.Results:Among the 232 patients with pneumoconiosis, 73 were complicated with pulmonary tuberculosis, accounting for 31.47% (73/232). Multivariate logistic regression analysis determined that dust exposure time, type of work, smoking history, and lung function level were all risk factors for pneumoconiosis complicated with tuberculosis ( OR=10.33, 95% CI=1.92~55.66, OR=5.43, 95% CI=1.91~15.44, OR=3.10, 95% CI=1.15~8.37, OR=4.00, 95% CI=1.62~9.87; P<0.05). The constructed nomogram model has good clinical applicability when the area under the receiver operating characteristic (ROC) curve is 0.77 [95% CI (0.69, 0.73) ], the calibration curve is close to the ideal diagonal, the absolute error between the simulation curve and the actual curve is 0.03, and the DCA decision curve shows that the probability threshold of the nomogram model is 1%-90%. Conclusion:The risk of pneumoconiosis complicated with tuberculosis is high, and the risk factors of dust exposure time, smoking history, type of work and lung function level are high. This nomogram model can be used to predict the risk of pulmonary tuberculosis in patients with pneumoconiosis, which is helpful for early intervention.

AIM:To investigate the effect of As-tragaloside Ⅳ(As-Ⅳ)on low-glucose mediated tu-mor immunosuppression microenvironment and its molecular mechanism.METHODS:MTT assay was used to detect the effect of As-Ⅳ on the prolifera-tion of CD4+T cells in low-glucose microenviron-ment in vitro.By ELISA experiment and qPCR detec-tion of interleukin 2(IL-2),interferon-gamma(IFN-γ),CD40L and transforming growth factor beta 1(TGF-β1)level;Western blot was used to detect the expression of glucose transporter 1(Glut-1),key glycolytic enzymes(HK,PFK1 and PK),AKT/mTOR signaling pathway and AKT/GSK3β signaling pathway in CD4+T cells.Molecular docking and AKT inhibitor experiments were used to verify the re-sults.B16-PKM2-OE was used to establish a low-glucose tumor microenvironment animal model for verification.RESULTS:MTT assay showed that As-Ⅳ promoted the proliferation of CD4+T cells in low-glucose microenvironment(P＜0.05).The results of ELISA and qPCR experiments showed that As-Ⅳcould increase the levels of IL-2,IFN-γ and CD40L,and reduce the level of TGF-β1 in tumor tissues(P＜0.05).Western blot results showed that As-Ⅳ pro-moted Glut-1 protein expression on the surface of CD4+T cells,up-regulated the expression of glycoly-sis key enzymes,and activated AKT/mTOR and AKT/GSK-3β signaling in a concentration-dependent manner.Molecular docking and join AKT inhibitors As the experiment results indicate-Ⅳ activated AKT/mTOR signaling and AKT/GSK-3β signal;Animal experiments showed that As-Ⅳ exerted anti-tumor effect by activating the proliferation and activation of CD4+T cells in low-glucose microenvironment.CONCLUSION:As-Ⅳ promote sugar by activation of AKT/Glut signal micro environment of CD4+T cell proliferation and activation play a role of anti-tu-mor.

Objective To examine the effect of ground cage use on Oncomelania hupensis spread, so as to provide insights into precision snail control. Methods Twenty ground cages that were frequently used to capture rice field eels were purchased, including 11 packaging tape-made cages, 7 plastic cages and 2 nylon rope-made cages. The eel-capturing activity was mimicked, and 20 ground cages were assigned in settings with relatively high (1.00 snail/0.1 m² and higher) and low snail densities (< 1.00 snail/0.1 m²) in Xindai Township, Pinghu City, Zhejiang Province during the period from 15 : 00 to 8 : 00 of the following day on April 13, 26 and 28. The numbers of snails carried by different types of ground cages were compared in settings with different types of snail densities using the rank-sum test. Results A total of 11 cage-times were assigned in settings with a high snail density, and a total of 77 snails were captured, with a mean number of 7 snails in each cage-time and 2.15 snails in 0.1 m² ground cage. The mean numbers of snails carried by packaging tape-made and plastic cages were 2.47 snails/0.1 m² cage and 0.37 snails/0.1 m² cage, respectively. A total of 24 cage-times were assigned in settings with a low snail density, and a total of 8 snails were captured, with a mean number of 0.33 snails in each cage-time and 0.09 snails in 0.1 m² ground cage. The mean numbers of snails carried by packaging tape-made cages were 0.12 snails/0.1 m² cage; however, no snails were carried by plastic or nylon rope-made cages. The number of snails carried by ground cages was higher in settings with a high snail density than in settings with a low snail density (Z = −4.019, P < 0.01), and the number of snails carried by packaging tape-made cages was higher in settings with a high snail density than in settings with a low snail density (Z = −4.086, P < 0.01). No significant differences were found in the numbers of snails carried by different types of ground cages. Conclusion The use of ground cage in snail habitats is a contributor to snail spread.

AIM:To investigate the effect of As-tragaloside Ⅳ(As-Ⅳ)on low-glucose mediated tu-mor immunosuppression microenvironment and its molecular mechanism.METHODS:MTT assay was used to detect the effect of As-Ⅳ on the prolifera-tion of CD4+T cells in low-glucose microenviron-ment in vitro.By ELISA experiment and qPCR detec-tion of interleukin 2(IL-2),interferon-gamma(IFN-γ),CD40L and transforming growth factor beta 1(TGF-β1)level;Western blot was used to detect the expression of glucose transporter 1(Glut-1),key glycolytic enzymes(HK,PFK1 and PK),AKT/mTOR signaling pathway and AKT/GSK3β signaling pathway in CD4+T cells.Molecular docking and AKT inhibitor experiments were used to verify the re-sults.B16-PKM2-OE was used to establish a low-glucose tumor microenvironment animal model for verification.RESULTS:MTT assay showed that As-Ⅳ promoted the proliferation of CD4+T cells in low-glucose microenvironment(P＜0.05).The results of ELISA and qPCR experiments showed that As-Ⅳcould increase the levels of IL-2,IFN-γ and CD40L,and reduce the level of TGF-β1 in tumor tissues(P＜0.05).Western blot results showed that As-Ⅳ pro-moted Glut-1 protein expression on the surface of CD4+T cells,up-regulated the expression of glycoly-sis key enzymes,and activated AKT/mTOR and AKT/GSK-3β signaling in a concentration-dependent manner.Molecular docking and join AKT inhibitors As the experiment results indicate-Ⅳ activated AKT/mTOR signaling and AKT/GSK-3β signal;Animal experiments showed that As-Ⅳ exerted anti-tumor effect by activating the proliferation and activation of CD4+T cells in low-glucose microenvironment.CONCLUSION:As-Ⅳ promote sugar by activation of AKT/Glut signal micro environment of CD4+T cell proliferation and activation play a role of anti-tu-mor.