1.Study on the distribution of FMR1 CGG repeat numbers among 16 610 women of childbearing age in China
Yahui SHEN ; Wei HOU ; Xiaolin FU ; Manli ZHANG ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Rui XIAO ; Yanping LU
Chinese Journal of Reproduction and Contraception 2025;45(4):398-402
Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.
2.Research on the application of the comprehensive quality control model based on the ICF concept and PDCA in the rehabilitation of stroke convalescence
Zhiqiang WANG ; Zhaoxiang MENG ; Xiaolin WANG ; Bin CAI ; Bo CHEN ; Jibing WANG ; Xibin ZHANG ; Kui WANG ; Xing JIN
Modern Hospital 2025;25(1):135-139
Objective To observe the rehabilitation treatment effect of using a comprehensive quality control model based on ICF concept and PDCA cycle management mode to intervene in stroke recovery patients.Methods The time segmenta-tion method was employed for grouping.A total of 114 stroke patients admitted to the hospital from June 1,2022 to February 28,2023 were selected as the control group,and 109 patients admitted from March 1,2023 to November 1,2023 were chosen as the study group.There was no statistically significant difference in the clinical data of the two groups of patients before treatment.The control group received conventional rehabilitation treatment,while the study group implemented the rehabilitation treatment based on the ICF concept and the PDCA"big loop with small loops"cyclic management mode on the basis of the control group.The basic information of the two groups of patients was compared,and the rehabilitation effects of the patients were comprehensively e-valuated by using the Fugl-Meyer assessment of upper and lower limb functions(with a total of 100 indicators),the Functional Independence Measure(FIM)score of daily activity ability(including 13 motor quality of life indicators and 5 cognitive quality of life indicators),and the satisfaction evaluation.Results After treatment,the scores of upper and lower limb function assess-ment and daily activity ability in both groups were significantly higher than those before treatment.Among them,all the scores of the study group were significantly better than those of the control group(P<0.01),and the satisfaction of the study group was also significantly improved compared with that of the control group(P<0.05).Conclusion The comprehensive quality control model based on the ICF concept and the PDCA cycle can significantly improve the rehabilitation effects and patient satisfaction of stroke patients in the recovery period.
3.Study on the distribution of FMR1 CGG repeat numbers among 16 610 women of childbearing age in China
Yahui SHEN ; Wei HOU ; Xiaolin FU ; Manli ZHANG ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Rui XIAO ; Yanping LU
Chinese Journal of Reproduction and Contraception 2025;45(4):398-402
Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.
4.Triglyceride-glucose index and homocysteine in association with the risk of stroke in middle-aged and elderly diabetic populations
Xiaolin LIU ; Jin ZHANG ; Zhitao LI ; Xiaonan WANG ; Juzhong KE ; Kang WU ; Hua QIU ; Qingping LIU ; Jiahui SONG ; Jiaojiao GAO ; Yang LIU ; Qian XU ; Yi ZHOU ; Xiaonan RUAN
Shanghai Journal of Preventive Medicine 2025;37(6):515-520
ObjectiveTo investigate the triglyceride-glucose (TyG) index and the level of serum homocysteine (Hcy) in association with the incidence of stroke in type 2 diabetes mellitus (T2DM) patients. MethodsBased on the chronic disease risk factor surveillance cohort in Pudong New Area, Shanghai, excluding those with stroke in baseline survey, T2DM patients who joined the cohort from January 2016 to October 2020 were selected as the research subjects. During the follow-up period, a total of 318 new-onset ischemic stroke patients were selected as the case group, and a total of 318 individuals matched by gender without stroke were selected as the control group. The Cox proportional hazards regression model was used to adjust for confounding factors and explore the serum TyG index and the Hcy biochemical indicator in association with the risk of stroke. ResultsThe Cox proportional hazards regression results showed that after adjusting for confounding factors, the risk of stroke in T2DM patients with 10 μmol·L⁻¹
5.Research on the relationship between resting-state spontaneous electroencephalography and task-evoked electroencephalography.
Huan HE ; Xiaolin XIAO ; Jin YUE ; Minpeng XU ; Dong MING
Journal of Biomedical Engineering 2025;42(3):620-627
In recent years, it has become a new direction in the field of neuroscience to explore the mode characteristics, functional significance and interaction mechanism of resting spontaneous electroencephalography (EEG) and task-evoked EEG. This paper introduced the basic characteristics of spontaneous EEG and task-evoked EEG, and summarized the core role of spontaneous EEG in shaping the adaptability of the nervous system. It focused on how the spontaneous EEG interacted with the task-evoked EEG in the process of task processing, and emphasized that the spontaneous EEG could significantly affect the performance of tasks such as perception, cognition and movement by regulating neural activities and predicting external stimuli. These studies provide an important theoretical basis for in-depth understanding of the principle and mechanism of brain information processing in resting and task states, and point out the direction for further exploring the complex relationship between them in the future.
Humans
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Electroencephalography/methods*
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Brain/physiology*
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Rest/physiology*
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Cognition/physiology*
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Evoked Potentials/physiology*
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Task Performance and Analysis
6.Analyses of human papilloma virus vaccination willingness and its influencing factors among adult women in Qinghai Province
Jin XU ; Xiaoqing LIU ; Guiyan MA ; Xiaolin LI ; Lei WANG ; Yan LIU ; Kezhong A
Shanghai Journal of Preventive Medicine 2025;37(10):865-870
ObjectiveTo analyze the willingness to receive human papilloma virus (HPV) vaccine and its influencing factors among adult women in Qinghai Province, so as to provide scientific basis for the formulation of targeted health intervention strategies. MethodsA multi-stage whole cluster random sampling method was used to conduct a questionnaire survey on the willingness to receive HPV vaccine in eight cities or states of Qinghai Province from December 2024 to January 2025. Hierarchical multiple regression analyses were used to identify the influencing factors associated with HPV vaccination willingness. ResultsThe results of the 923 participants participated the questionnaire survey revealed that adult women’s HPV vaccination willingness scores differed statistically significant by educational level (F=9.596, P<0.001) and occupation (F=8.494, P<0.001). The hierarchical multiple regression modeling showed that perception of susceptibility (β=0.078, P<0.05), cues to action(β=0.134, P<0.05), and subjective norms (β = 0.407, P<0.001) were positively associated with HPV vaccination willingness among adult women, while perceptual disorder (β =-0.113, P<0.001) was negatively associated with it. ConclusionThe willingness to receive HPV vaccine among adult women in Qinghai Province is influenced by perception of susceptibility, perceptual disorder, cues to action, and subjective norms. Policy makers and public health agencies should therefore adopt targeted strategies, such as optimizing health education, improving vaccine accessibility, lowering barriers to vaccination, and reinforcing supportive social networks, to increase HPV vaccine uptake and ultimately achieve the goal of effective prevention, control, and elimination of cervical cancer.
7.Progress on feeding and eating behavior problems in children with autism spectrum disorder
Ning SHAO ; Yanyan WANG ; Xiaolin LIU ; Yan JIN ; Zhiwei ZHU ; Chao SONG
International Journal of Pediatrics 2025;52(1):11-16
Autism spectrum disorder(ASD)is a multifactorial,pervasive neurodevelopmental disorder.As the morbidity rate of ASD in children increases year by year,feeding and eating behaviors,as an important and common clinical problem in children with ASD,are gaining more and more attention.Many children with ASD often have food selection issues,chewing problems,food allergy and related gastrointestinal symptoms,and even serious diseases such as eating disorders,which negatively impact on their growth and development.There are many factors affecting feeding and eating behavior problems in children with ASD,such as sensory processing,ritualistic eating behavior,gastrointestinal symptoms,age,and parenting pressure.There are also a variety of interventions that can help to improve feeding and eating behavior problems in children with ASD.Strengthening the understanding of these influencing factors and intervention treatment methods is beneficial for improving the quality of life in children with ASD.
8.Status quo and research hotspots of palliative care development in China: a bibliometric analysis
Xiaolin WANG ; Ying WU ; Yumiao WU ; Youjun HE ; Jin QIAO
Chinese Journal of General Practitioners 2025;24(4):414-419
Objective:To analyze the status quo and research hotspots of palliative care development in China.Methods:It was a bibliometric analysis. Literature on palliative care in China was searched in databases of CNKI, Wanfang Data and Web of Science from 2018 to 2023. CiteSpace software was used for bibliometric analysis in terms of publication number, citation frequency, keyword co-occurrence network, and the evolution of research hotspots.Results:A total of 582 articles were included for analysis, with 534 in Chinese language (91.75%) and 48 in English (8.25%). From 2018 to 2023, the overall number of publications on palliative care in China had shown an upward trend. Most highly cited articles were published in nursing journals, and a total of 89 articles (15.29%) were marked as supported by national level funding projects. Keyword co-occurrence chart showed that the most frequent keywords were "palliative care", follwed by "end-of-life care""nurses""palliative medicine""review", and "hospice care". Keyword clustering analysis and emergent word analysis suggested that researches in the field of palliative care were gradually shifting from implementation strategies and models (2018-2020) to service practice effectiveness, personnel core competencies, social culture, patient quality of life, and other aspects(2021—2023).Conclusion:The field of palliative care in China has received more and more attention. In recent years, the research topics havs focused on the practical effectiveness of services, the capacity building of service personnel, and the overall social impact of service implementation.
9.Research on the application of the comprehensive quality control model based on the ICF concept and PDCA in the rehabilitation of stroke convalescence
Zhiqiang WANG ; Zhaoxiang MENG ; Xiaolin WANG ; Bin CAI ; Bo CHEN ; Jibing WANG ; Xibin ZHANG ; Kui WANG ; Xing JIN
Modern Hospital 2025;25(1):135-139
Objective To observe the rehabilitation treatment effect of using a comprehensive quality control model based on ICF concept and PDCA cycle management mode to intervene in stroke recovery patients.Methods The time segmenta-tion method was employed for grouping.A total of 114 stroke patients admitted to the hospital from June 1,2022 to February 28,2023 were selected as the control group,and 109 patients admitted from March 1,2023 to November 1,2023 were chosen as the study group.There was no statistically significant difference in the clinical data of the two groups of patients before treatment.The control group received conventional rehabilitation treatment,while the study group implemented the rehabilitation treatment based on the ICF concept and the PDCA"big loop with small loops"cyclic management mode on the basis of the control group.The basic information of the two groups of patients was compared,and the rehabilitation effects of the patients were comprehensively e-valuated by using the Fugl-Meyer assessment of upper and lower limb functions(with a total of 100 indicators),the Functional Independence Measure(FIM)score of daily activity ability(including 13 motor quality of life indicators and 5 cognitive quality of life indicators),and the satisfaction evaluation.Results After treatment,the scores of upper and lower limb function assess-ment and daily activity ability in both groups were significantly higher than those before treatment.Among them,all the scores of the study group were significantly better than those of the control group(P<0.01),and the satisfaction of the study group was also significantly improved compared with that of the control group(P<0.05).Conclusion The comprehensive quality control model based on the ICF concept and the PDCA cycle can significantly improve the rehabilitation effects and patient satisfaction of stroke patients in the recovery period.
10.Status quo and research hotspots of palliative care development in China: a bibliometric analysis
Xiaolin WANG ; Ying WU ; Yumiao WU ; Youjun HE ; Jin QIAO
Chinese Journal of General Practitioners 2025;24(4):414-419
Objective:To analyze the status quo and research hotspots of palliative care development in China.Methods:It was a bibliometric analysis. Literature on palliative care in China was searched in databases of CNKI, Wanfang Data and Web of Science from 2018 to 2023. CiteSpace software was used for bibliometric analysis in terms of publication number, citation frequency, keyword co-occurrence network, and the evolution of research hotspots.Results:A total of 582 articles were included for analysis, with 534 in Chinese language (91.75%) and 48 in English (8.25%). From 2018 to 2023, the overall number of publications on palliative care in China had shown an upward trend. Most highly cited articles were published in nursing journals, and a total of 89 articles (15.29%) were marked as supported by national level funding projects. Keyword co-occurrence chart showed that the most frequent keywords were "palliative care", follwed by "end-of-life care""nurses""palliative medicine""review", and "hospice care". Keyword clustering analysis and emergent word analysis suggested that researches in the field of palliative care were gradually shifting from implementation strategies and models (2018-2020) to service practice effectiveness, personnel core competencies, social culture, patient quality of life, and other aspects(2021—2023).Conclusion:The field of palliative care in China has received more and more attention. In recent years, the research topics havs focused on the practical effectiveness of services, the capacity building of service personnel, and the overall social impact of service implementation.

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