1.Case-control study on clinical features and influencing factors of children with autism spectrum disorders
Yuying HE ; Ying YANG ; Dongdong SHAO ; Xirui CHEN ; Li HE ; Jie ZHANG ; Yanni CHEN
Chinese Journal of Applied Clinical Pediatrics 2017;32(8):607-612
Objective To explore the early clinical characteristics and influencing factors in children with autism spectrum disorders(ASD).Methods From January 2005 to December 2014,193 children with ASD were collec-ted by continuous grouping method from Children's Rehabilitation Training Center in Xi'an.According to the 1∶1 matched case-control study requirements,and the other 193 children from kindergartens and primary schools in the urban areas of Xi'an were collected as healthy control group from March 1 to July 1,2016.The age of children in the case group was(40.78±14.86)months and the age of the healthy control group was(40.61±14.40)months.There were 167 boys and 26 girls in 2 groups and the ratio of boys to girls was 6.42∶1.00.The general status questionnaires,medical history questionnaire,diagnostic chart,Autism Behavior Checklist(ABC)and Family Environment Scale of Chinese version(FES-CV)were completed by parents between 2 groups.Childhood Autism Rating Scale(CARS)was completed by doctors in the case group.By using Excel software,the original questionnaires were completed in 2 entries by 2 persons to set up the database.All data were analyzed by SPSS 17.0 statistical software and conditional Logistic regression was used for multivariate analysis.Results Seventy point eight percent(137/193 cases)of children with ASD had been found abnormal under 2 years old or at 2 years old,and 54.9%(106/193 cases)had been diagnosed under 3 years old or at 3 years old.The average delay from the discovery to the diagnosis was 17 months.The initial abnormalities appea-rances were mainly manifested as no response to calling in 153 cases(79.3%),very little active contact with others in 141 cases(73.1%),silent or less use of oral language in 137 cases(71%),avoiding contact with the eyes of others or lack of facial expressions in 121 cases(62.7%).Their signs were easy to be misdiagnosed as mental retardation and language retardation.Children in the case group began to walk alone at the age of 8 months to 3 years old,and only 62.2%(120/193 cases)of them could walk alone at the age of 18 months or before.The age of conscious speech was at 8 months to 4 years and 4 months,and only 39.4%(76/193 cases)of the ASD children could speak at the age of 18 months or before.The total scores of the ABC scale of the case group were(56.520±22.140)scores and the sub-scales and total scores were significantly higher than those of the healthy control group,and the difference was statistically significant(t=16.845,27.390,16.527,26.320,23.371,32.206,all P<0.001).The positive consistent rate of ABC and clinical diagnosis was 56.5%.The total scores of CARS in the case group was(36.4±8.6)scores,and the positive consistent rate of CARS and clinical diagnosis was 78.8%.There was a statistical significance between the 2 groups in parental education,mother's occupation,family history(x2=29.670,44.593,15.439,6.095,all P<0.05),and there were statistical significance in the main caregivers,family harmony and family income(x2=19.006,7.129,109.027,all P<0.05).There was no statistical significance between the 2 dimensions of independence and achievement orientation between the 2 groups(t=-1.559,-0.139,P=0.120,0.890).The case group in the family cohesion,expressiveness,intellectual-cultural orientation,active-recreational orientation,moral-religious emphasis,organization and control of the 7 dimension scores were significantly lower than those in the healthy control group,and the differences were statistically significant(t=-7.683,-5.734,-8.762,-14.109,-2.026,-4.530,-2.464,all P<0.05).In the case group,the scores of the conflict dimension were higher than those of the healthy control group,and the difference was statistically significant(t=4.925,P<0.001).There was a statistical significance between the 2 groups in gestational age and birth hypoxia(x2=6.898,27.180,all P<0.05).According to multivariate analysis of Logistic regression,people other than parents serving as the primary support,anoxia of newborn,mother of non professional and technical personnel and lower scores of family active-recreational orientation might be the risk factors of ASD,family per capita income of 3 000 Yuan RMB or more monthly,mother education level of high school and above,and lower scores of family conflict might be the protective factors for ASD.Conclusions Clinical features of most ASD children can be easily identified under 2 years old,but if the diagnosis is delayed,the related intervention is late,so importance should be attached to early diagnosis.Mother's occupation and education level,family economic status,family environment,their supervisors,and anoxia of newborn may be the effective entry points in the prevention and treatment of ASD.
2.The inhibitory effects of Pinella's ingredients on the growth of cervical cancer cell lines
Li WANG ; Yongjie YANG ; Suiqi GUI ; Songhua CHEN ; Xirui GE ; Guiling LI
Fudan University Journal of Medical Sciences 2009;36(6):675-680
Objective To investigate the effects of Pinella's ingredients on the viability of cells, morphology, microstructure, cell cycle and apoptosis in human cervical cancer cell lines. Methods The β-sitosterol and/or total protein of Pinella were incubated at different concentrations with cervical cancer cell line SiHa. The effects of β-sitosterol and/or total protein of Pinella on the viability of cells were tested by MTT assay. The effects of β-sitosterol on morphology, microstructure, cell cycle and apoptosis were studied by phase-contrast microscope, electron microscope and flowcytometry, respectively. Results β-sitosterol could obviously inhibit the viability of SiHa cells in a time-and dose-dependent manner. The total protein of Pinella had no effects on SiHa cells' viability. 20 μmol/L β-sitosterol induced the accumulation of SiHa cells in S phase in the cell cycle. And the percents of apoptosis and necrosis increased. The morphology and microstructure of SiHa cells changed significantly after treated with 20 μmol/L β-sitosterol. Conclusions The total protein of Pinella had little influence on the viability of cervical cancer cells SiHa. The viability of SiHa cells could be suppressed by β-sitosterol. β-sitosterol could induce the accumulation of cells in S phase and the percent of apoptosis and necrosis. The morphology and microstructure changed significantly after treated with β-sitosterol. Therefore, β-sitosterol might be a prospect safe and low toxicity anti-cervical cancer drug.
3.Cytotoxicity of LAK Cells from Cancer Patients against Tumor Cells
Songhua CHEN ; Wei LIU ; Yufang CHE ; Huimin DAI ; Qiuda WANG ; Yu WANG ; Xirui GE ;
Chinese Journal of Cancer Biotherapy 1996;0(04):-
The peripheral blood lymphocytes (PBLs) from 111 cancer patients were isolated and cultured respectively for 23 - 27 days in the medium mainly conditioned by IL-2 and PHA. With ~(125) I-UdR release method, sampling in random way, we examed the cytotoxicities of PBLs and lymphokine-activated-killer (LAK) cells in different culture periods in vitro. The statistic analysis on sufficient data gave the following results: 1. The cytotoxicity against K562 cells increased from 34.78 ?25% of the PBLs to 68.04 ?17.3% of the cells cultured for 8-13 days, afterward, kept about 70% to 23 - 27 days. The constitutional proportion patterns showed that the freshly isolated samples dispersed at a wide range of cytotoxicities (10 - 90%), and that most of the cultured samples ( ~ 85%) concentrated on the range of higher cytotoxicities (50 ~ 95% ) after 8-13 days. 2. The cytotoxicity against Raji cells rose from 8.9 ?8% of the fresh PBLs to 42.1 ?22% of the LAK cells at 8 - 13 days, and maintained about 35% in the following periods. The constitutional proportion patterns of the cytotoxicity against Raji illustrated that all the fresh PBL samples were below 25% of cytotoxicity, and that during the culture, one part of the samples ( ~ 30%) acquired the higher cytotoxicities (50 -90% ), but the other part of the samples ( - 40%) remained at lower cytotoxicities (below 35% ) . The mechanisms behind these phenomena are worth further investigating.
4.Bone adaptive digital analysis for femur bone being in disuse and overload condition.
Journal of Biomedical Engineering 2008;25(5):1074-1078
Mature femur bone, through the process of bone remodeling, renews itself and adapts to mechanical load. In this study, a biomechanical model involving strain and other variable parameters was developed for bone remodeling and used to simulate the removal of bone mass and bone regeneration in the disuse and overload condition. The results exhibit that elastic modulus in bone lateral portion is decreasing and porosity is increasing for acquiring equilibrium strain. The conclusion of simulation for reality femur model is more accurate than what is obtained from simplified model or from only one volume element. These indicate the significance of acquiring scientific data to the development of consummate simulation model.
Adaptation, Physiological
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physiology
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Bone Remodeling
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physiology
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Computer Simulation
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Elasticity
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Femur
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diagnostic imaging
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physiology
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Finite Element Analysis
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Humans
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Models, Biological
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Porosity
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Stress, Mechanical
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Time Factors
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Tomography, X-Ray Computed
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Weight-Bearing
5.Impact and Interaction of Disease Severity and Hospital Preparations Associated with 28-Day Fatality Risk in COVID-19 Hospitalizations:A Retrospective Cohort Study
Xinru HU ; Fan YANG ; Yingtian WANG ; Chen WANG ; Xirui QIU ; Fangyi CHEN ; Wei WANG ; Xiaoxiao WANG
Journal of Nanjing University of Traditional Chinese Medicine 2024;40(6):618-627
OBJECTIVE To identify the influence factors associated with 28-day fatality among COVID-19 hospitalizations and to analyze the interaction between the disease severity at admission and the use of hospital preparations.METHODS A retrospective review of records from COVID-19 hospitalizations aged 18 to 90 who were admitted to the Jiangsu Province Hospital of Chinese Medi-cine from December 15,2022 to January 15,2023 were conducted.Patients who died or were lost to follow-up within 48 h of admis-sion were excluded.Patients were divided into survival and death groups based on their 28-day fatality status.Descriptive statistics were used to characterize the two groups and multivariate logistic regression models were employed to identify factors influencing 28-day fatality risk.The interaction between the severity of illness at admission and the use of hospital preparations was explored through cross-over analysis and hierarchical regression analysis.RESULTS Significant differences were observed between the survival and death groups in terms of severity of illness at admission,hospital preparations usage,steroid therapy,age,platelet count,lactate dehydro-genase levels,and urea(P<0.05.Crossover analysis and hierarchical logistic regression analysis revealed a significant antagonistic interaction between the severity of illness at admission and the use of hospital formulations both before adjustment(RERI=-20.678,95%CI:-33.703~-7.652;APAI=-2.301,95%CI:-4.027~-0.575 and after adjusting for gender,age,clinical characteristics and further adjusting for laboratory parameters(RERI=-5.972,95%CI:-10.564~-1.380;APAI=-2.205,95%CI:-4.131~-0.279,and it was an antagonistic interaction both before(SI=0.279,95%CI:0.157~0.493 and after adjustment(SI=0.222,95%CI:0.095~0.523.CONCLUSION The use of hospital preparations significantly reduces the 28-day fatality risk among COV-ID-19 hospitalizations and a clear antagonistic interaction was observed between the disease severity at admission and the use of hospi-tal preparations.
6.Qualitative study on psychological experience and demand of parents of children with delayed recovery after congenital heart disease surgery
Haiying XING ; Xuemei SUN ; Yafei LIU ; Jingli CHEN ; Xirui YIN ; Wolei FENG ; Yanjiao WANG ; Zixian DONG ; Yan JIA
Chinese Journal of Modern Nursing 2024;30(5):569-575
Objective:To explore the psychological experience and demand of parents of children with delayed recovery after congenital heart disease surgery.Methods:This study adopted phenomenological research methods from qualitative research. Using the purposive sampling method, parents of postoperative delayed recovery children with congenital heart disease who met the inclusion criteria were selected as the research objects from October to November 2019 at Fuwai Hospital, Chinese Academy of Medical Sciences. Semi-structured interviews were conducted with the parents of the children, and the data were analyzed by Colaizzi 7-step analysis method.Results:Finally, 13 parents of children with delayed recovery after congenital heart disease surgery were included. According to the interview results, four themes were extracted, which were negative psychological experience of parents of children with delayed recovery, positive psychological experience and expectation change of parents, heavy economic burden of parents and diversified needs of parents.Conclusions:During the delayed recovery period, psychological experience of parents is complex and their needs are diverse. The nursing staff should identify and pay attention to the causes of the negative psychological experience of the parents of the children, timely channel their negative emotions and strengthen the positive psychological experience in many aspects. They can assist parents to seek social help to reduce physical and mental pressure and meet the diverse needs of parents by providing high-quality nursing services and multi-channel information support.
7.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
8.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
9.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
10.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.