1.Artificial intelligence-driven multi-omics approaches in Alzheimer's disease: Progress, challenges, and future directions.
Fang REN ; Jing WEI ; Qingxin CHEN ; Mengling HU ; Lu YU ; Jianing MI ; Xiaogang ZHOU ; Dalian QIN ; Jianming WU ; Anguo WU
Acta Pharmaceutica Sinica B 2025;15(9):4327-4385
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline and memory loss, with few effective treatments currently available. The multifactorial nature of AD, shaped by genetic, environmental, and biological factors, complicates both research and clinical management. Recent advances in artificial intelligence (AI) and multi-omics technologies provide new opportunities to elucidate the molecular mechanisms of AD and identify early biomarkers for diagnosis and prognosis. AI-driven approaches such as machine learning, deep learning, and network-based models have enabled the integration of large-scale genomic, transcriptomic, proteomic, metabolomic, and microbiomic datasets. These efforts have facilitated the discovery of novel molecular signatures and therapeutic targets. Methods including deep belief networks and joint deep semi-non-negative matrix factorization have contributed to improvements in disease classification and patient stratification. However, ongoing challenges remain. These include data heterogeneity, limited interpretability of complex models, a lack of large and diverse datasets, and insufficient clinical validation. The absence of standardized multi-omics data processing methods further restricts progress. This review systematically summarizes recent advances in AI-driven multi-omics research in AD, highlighting achievements in early diagnosis and biomarker discovery while discussing limitations and future directions needed to advance these approaches toward clinical application.
2.Yield of Different Quantitative Fecal Immunochemical Test Cut-Offs in the Colorectal Cancer Screening Program
Jinhua YANG ; Jiabei HE ; Xinglin FEI ; Zenghao XU ; Kai GAO ; Mengling TANG ; Jianbing WANG ; Kun CHEN ; Mingjuan JIN
China Cancer 2025;34(1):10-16
[Purpose]To analyze the diagnostic yield of quantitative fecal immunochemical test(FIT)at different cut-offs in colorectal cancer(CRC)screening.[Methods]The sequential screening method was adapted in Jiashan CRC screening program for local residents aged 40~74 years old,which included a quantitative FIT and high-risk factor questionnaire for primary screening and subsequent colonoscopy for the diagnostic screening.Subjects who participated in quantitative FIT were included in this study between September,2021 and August,2023.The positive predictive values(PPVs)for colorectal neoplasms were calculated at the cut-offs of 100,120,140,160,180 and 200 ng/mL of FIT.The Cochran-Armitage trend test was performed to compare the trend of PPVs at different cut-offs.The effects of different starting age and FIT cut-offs on requirement of colonoscopy and advanced neoplasia detection were assessed.[Results]A total of 58 256 individuals completed the quantitative FIT,and 3 106 had fecal hemoglobin concentrations>100 ng/mL,among whom 2 186 underwent colonoscopic examination with a compliance rate of 70.38%.The colonoscopy detected 588 cases of non-advanced adenomas and 355 cases of advanced neoplasms(AN),in-cluding 30 cases of CRC and 325 cases of advanced adenomas.Progressively increasing the cut-off showed a decrease in PPVs of non-advanced adenomas and an increase of AN.The ratio of the rate of reduced requirement of colonoscopy to the missed rate of the progressive lesions was the smallest when the screening start age was 45 years old and the positive FIT threshold was set at 100 ng/mL.[Conclusion]There were significant differences in the diagnostic yield at different cut-offs of FIT.Increasing the cut-offs of FIT will elevate PPVs for the advanced neoplasms.
3.Yield of Different Quantitative Fecal Immunochemical Test Cut-Offs in the Colorectal Cancer Screening Program
Jinhua YANG ; Jiabei HE ; Xinglin FEI ; Zenghao XU ; Kai GAO ; Mengling TANG ; Jianbing WANG ; Kun CHEN ; Mingjuan JIN
China Cancer 2025;34(1):10-16
[Purpose]To analyze the diagnostic yield of quantitative fecal immunochemical test(FIT)at different cut-offs in colorectal cancer(CRC)screening.[Methods]The sequential screening method was adapted in Jiashan CRC screening program for local residents aged 40~74 years old,which included a quantitative FIT and high-risk factor questionnaire for primary screening and subsequent colonoscopy for the diagnostic screening.Subjects who participated in quantitative FIT were included in this study between September,2021 and August,2023.The positive predictive values(PPVs)for colorectal neoplasms were calculated at the cut-offs of 100,120,140,160,180 and 200 ng/mL of FIT.The Cochran-Armitage trend test was performed to compare the trend of PPVs at different cut-offs.The effects of different starting age and FIT cut-offs on requirement of colonoscopy and advanced neoplasia detection were assessed.[Results]A total of 58 256 individuals completed the quantitative FIT,and 3 106 had fecal hemoglobin concentrations>100 ng/mL,among whom 2 186 underwent colonoscopic examination with a compliance rate of 70.38%.The colonoscopy detected 588 cases of non-advanced adenomas and 355 cases of advanced neoplasms(AN),in-cluding 30 cases of CRC and 325 cases of advanced adenomas.Progressively increasing the cut-off showed a decrease in PPVs of non-advanced adenomas and an increase of AN.The ratio of the rate of reduced requirement of colonoscopy to the missed rate of the progressive lesions was the smallest when the screening start age was 45 years old and the positive FIT threshold was set at 100 ng/mL.[Conclusion]There were significant differences in the diagnostic yield at different cut-offs of FIT.Increasing the cut-offs of FIT will elevate PPVs for the advanced neoplasms.
4.Construction and application of a home care readiness program for caregivers of patients with chronic heart failure
Yu WANG ; Mengyu HE ; Minghao QI ; Mengling LEI ; Zhenyue CHEN ; Feng WANG ; Jing ZHOU
Chinese Journal of Nursing 2025;60(16):1925-1932
Objective To construct a home care readiness program for caregivers of patients with chronic heart failure based on the McMaster Family Functioning Model and explore its application effects.Methods The pro-gram was developed through literature analysis,expert correspondence and pre-testing.86 pairs of patients with chronic heart failure and their caregivers who were admitted to the Department of Cardiology of a tertiary-level hos-pital in Bengbu City were conveniently selected from December 2023 to April 2024 as the study subjects.Using the coin-flip method,the patients were randomly divided into 43 pairs in an experimental group and 43 pairs in a control group on a ward-by-ward basis.The experimental group implemented the program on the basis of routine care,and the control group was given routine care.Differences in caregiver home care readiness,caregiver caregiv-ing ability and patients' quality of life were compared between the 2 groups at the time of admission,at the time of discharge,and 1 and 3 months after discharge.Results A total of 81 pairs of patients and their caregivers completed the intervention,with 41 in the experimental group and 40 in the control group.Repeated-measures ANOVA showed that there was an interaction effect between time and group for caregiver home care readiness,caregiver caregiving ability,and patient quality of life in both groups(F=320.995,P<0.001;F=83.303,P<0.001;F=113.283,P<0.001).Simple effect analyses showed that caregiver home care readiness and caregiver caregiving com-petence scores were higher in the experimental group than those in the control group at the time of discharge and at 1 and 3 months post-discharge(P<0.001);quality of life scores of patients in the experimental group were lower than it in the control group at 1 and 3 months post-discharge(P<0.001).Conclusion The implemen-tation of the program can effectively improve the home care readiness and caregiving ability of caregivers of pa-tients with chronic heart failure,and improve the quality of life of patients.
5.Care demanded journey map for primary caregivers of the patients with spinal cord injury:a longitudinal qualitative study
Mengling LEI ; Xia CHEN ; Fangfang ZHAO ; Chengqian HUANG ; Cheng WANG
Modern Clinical Nursing 2025;24(1):46-52
Objective To identify the multidimensional care needs for primary caregivers of the patients with spinal cord injury based on a journey map so as to provide a reference for caregivers to develop supportive interventions through the whole-journey.Method A longitudinal descriptive qualitative study was conducted,and purposive sampling was employed to select 14 primary caregivers for the patients with spinal cord injury from a Grade ⅢA hospital in Hefei between March and May 2024 for 3 rounds of semi-structured interviews.Content analysis was conducted to organise the data and to extract the themes.Based on the extracted themes,a journey map of the care needs for primary caregivers was plotted.Results The journey map was plotted based on 3 phases of the patients with spinal cord injury:diagnosis,discharge transition and rehabilitation as the horizontal axis of time,and the tasks,emotions,and barriers during the care-providing period as the vertical axis of tasks.Nine themes were identified and plotted by journey map,including three domains on tasks for three phases(high demand for hospitalisation assistance,urgent need for home care skills and dual role challenge),three domains on emotional conditions for three phases(psychological adjustment,heavy negative emotion experience and positive experience)and three domains on care-giving barriers for three phases(need for disease-related knowledge,lack of medicine-related laws and changes in family economy and structure).Conclusion The journey map of the care needs for primary caregivers among the patients with spinal cord injury is complex and multi-dimensional.Medical staff should accurately devise intervention plans according to the task axis at different stages of disease.This will enable the allocation of high-quality supporting resources throughout the whole care-providing journey,thereby improving the quality of care as well as the outcomes of care.
6.Care demanded journey map for primary caregivers of the patients with spinal cord injury:a longitudinal qualitative study
Mengling LEI ; Xia CHEN ; Fangfang ZHAO ; Chengqian HUANG ; Cheng WANG
Modern Clinical Nursing 2025;24(1):46-52
Objective To identify the multidimensional care needs for primary caregivers of the patients with spinal cord injury based on a journey map so as to provide a reference for caregivers to develop supportive interventions through the whole-journey.Method A longitudinal descriptive qualitative study was conducted,and purposive sampling was employed to select 14 primary caregivers for the patients with spinal cord injury from a Grade ⅢA hospital in Hefei between March and May 2024 for 3 rounds of semi-structured interviews.Content analysis was conducted to organise the data and to extract the themes.Based on the extracted themes,a journey map of the care needs for primary caregivers was plotted.Results The journey map was plotted based on 3 phases of the patients with spinal cord injury:diagnosis,discharge transition and rehabilitation as the horizontal axis of time,and the tasks,emotions,and barriers during the care-providing period as the vertical axis of tasks.Nine themes were identified and plotted by journey map,including three domains on tasks for three phases(high demand for hospitalisation assistance,urgent need for home care skills and dual role challenge),three domains on emotional conditions for three phases(psychological adjustment,heavy negative emotion experience and positive experience)and three domains on care-giving barriers for three phases(need for disease-related knowledge,lack of medicine-related laws and changes in family economy and structure).Conclusion The journey map of the care needs for primary caregivers among the patients with spinal cord injury is complex and multi-dimensional.Medical staff should accurately devise intervention plans according to the task axis at different stages of disease.This will enable the allocation of high-quality supporting resources throughout the whole care-providing journey,thereby improving the quality of care as well as the outcomes of care.
7.Construction and application of a home care readiness program for caregivers of patients with chronic heart failure
Yu WANG ; Mengyu HE ; Minghao QI ; Mengling LEI ; Zhenyue CHEN ; Feng WANG ; Jing ZHOU
Chinese Journal of Nursing 2025;60(16):1925-1932
Objective To construct a home care readiness program for caregivers of patients with chronic heart failure based on the McMaster Family Functioning Model and explore its application effects.Methods The pro-gram was developed through literature analysis,expert correspondence and pre-testing.86 pairs of patients with chronic heart failure and their caregivers who were admitted to the Department of Cardiology of a tertiary-level hos-pital in Bengbu City were conveniently selected from December 2023 to April 2024 as the study subjects.Using the coin-flip method,the patients were randomly divided into 43 pairs in an experimental group and 43 pairs in a control group on a ward-by-ward basis.The experimental group implemented the program on the basis of routine care,and the control group was given routine care.Differences in caregiver home care readiness,caregiver caregiv-ing ability and patients' quality of life were compared between the 2 groups at the time of admission,at the time of discharge,and 1 and 3 months after discharge.Results A total of 81 pairs of patients and their caregivers completed the intervention,with 41 in the experimental group and 40 in the control group.Repeated-measures ANOVA showed that there was an interaction effect between time and group for caregiver home care readiness,caregiver caregiving ability,and patient quality of life in both groups(F=320.995,P<0.001;F=83.303,P<0.001;F=113.283,P<0.001).Simple effect analyses showed that caregiver home care readiness and caregiver caregiving com-petence scores were higher in the experimental group than those in the control group at the time of discharge and at 1 and 3 months post-discharge(P<0.001);quality of life scores of patients in the experimental group were lower than it in the control group at 1 and 3 months post-discharge(P<0.001).Conclusion The implemen-tation of the program can effectively improve the home care readiness and caregiving ability of caregivers of pa-tients with chronic heart failure,and improve the quality of life of patients.
8.Progress of single-cell protein imaging methods
Chunlu YAO ; Weijie ZHANG ; Yunlong ZHANG ; Zhaoxia DENG ; Mengling WANG ; Zuoling ZHANG ; Chen WANG ; Qinxin SONG ; Bingjie ZOU
Journal of China Pharmaceutical University 2024;55(2):147-157
Abstract: The differential expression and subcellular localization of single-cell proteins are closely related to the physiological state and pathological mechanisms of the body. The development of single-cell protein in situ imaging methods provides powerful tools for spatial single-cell proteomics research and single-cell protein profiling. This article summarizes the single-cell protein imaging methods developed in recent years, including the circulating immunofluorescence imaging methods based on ordered multi-round antibody incubation, mass spectrometry imaging based on metal element labeled antibodies, fluorescence imaging based on DNA-barcoded antibody, gene encoded fluorescence protein imaging and spectral imaging based on Raman spectroscopy or X-ray spectroscopy, with brief explanation of the imaging principles of these methods. It focuses on the multiple performance, imaging resolution and signal amplification performance of these methods, and analyzes their application characteristics in practical scientific research and clinical work, in the hope of providing some reference for the development of more revolutionary single-cell imaging methods, and promoting the development of biomedical and precision medicine.
9.Exploratory study of starting age and interval of gastroscopy for different gastric mucosal lesions
Jiayi LI ; Peng SHEN ; Zhanghang ZHU ; Mengling TANG ; Liming SHUI ; Yexiang SUN ; Zhiqin JIANG ; Hongbo LIN ; Jianbing WANG ; Mingjuan JIN ; Kun CHEN
Chinese Journal of Epidemiology 2024;45(9):1244-1250
Objective:To understand the current status of gastroscopy in diagnosing gastric lesions in general population, and to recommend the optimal age for the first gastroscopy and intervals for repeated gastroscopy.Methods:The gastroscopy records of residents aged 18-80 years in Yinzhou District of Ningbo, Zhejiang Province, between April 2010 and December 2021 were analyzed retrospectively. The detections of gastric lesions across different years, age and genders were described. Goodness of fit tests were applied to compare the differences in detection rates of different lesions in first-time endoscopy in different age groups and different populations. Generalized additive models were used to fit the trend of age specific gastric lesion detection rate explore the optimal age for gastroscopy. The appropriate gastroscopy intervals were determined according to the progress of the gastric lesions detected in repeated gastroscopy.Results:A total of 237 751 participants with 344 398 gastroscopy records were included in analyses. A total of 5 597 cases of chronic atrophic gastritis (CAG), 9 796 cases of intestinal metaplasia (IM), 165 cases of low-grade intraepithelial neoplasia (LGIN), 52 cases of high-grade intraepithelial neoplasia (HGIN) and 435 cases of gastric cancer were detected by the first gastroscopy. The overall detection rate of gastric lesions increased significantly in age group 45-70 years, and remained stable after 70 years old, with LGIN and HGIN showing notable increases at 50 and 55 years old, respectively. Repeated gastroscopy detected CAG, IM, LGIN, and HGIN at a higher rate compared with the first gastroscopy. Normal/superficial gastritis progressed in 3-5 years, whereas CAG or more severe lesions progressed in 1-6 years.Conclusion:Gastroscopy is recommended for general population aged 45 years and above. Furthermore, gastroscopy can be performed every 3-5 years for individuals with normal endoscopy results and once a year for patients with CAG or more severe gastric lesions.
10.Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome
Shengfang QIN ; Mengling YE ; Yan YIN ; Jin WANG ; Xueyan WANG ; Zhuo ZHANG ; Ximin CHEN ; Mengjia YAN ; Yuxia HE ; Danying YI ; Qin DENG
Chinese Journal of Medical Genetics 2024;41(1):32-37
Objective:To study the trinucleotide repeats of GCN (GCA, GCT, GCC, GCG) encoding Alanine in exon 3 of the PHOX2B gene among healthy individuals from southwest China and two patients with Congenital central hypoventilation syndrome (CCHS). Methods:The number and sequence of the GCN repeats of the PHOX2B gene were analyzed by capillary electrophoresis, Sanger sequencing and cloning sequencing of 518 healthy individuals and two newborns with CCHS, respectively. Results:Among the 1036 alleles of the 518 healthy individuals, five alleles were identified, including (GCN) 7, (GCN) 13, (GCN) 14, (GCN) 15 and (GCN) 20. The frequency of the (GCN) 20 allele was the highest (94.79%). And five genotypes were identified, which included (GCN) 7/(GCN) 20, (GCN) 13/(GCN) 20, (GCN) 14/(GCN) 20, (GCN) 15/(GCN) 20, (GCN) 20/(GCN) 20. The homozygous genotypes were all (GCN) 20/(GCN) 20, and the carrier rate was 89.58%. Four GCN sequences of the (GCN) 20 homozygous genotypes were identified among the 464 healthy individuals. The GCN repeat numbers in the exon 3 of the PHOX2B gene showed no significant difference between the expected and observed values, and had fulfilled the, Hardy-Weinberg equilibrium. The genotypes of the two CCHS patients were (GCN) 20/(GCN) 25 and (GCN) 20/(GCN) 30, respectively. Conclusion:It is important to determine the GCN repeats and genotypic data of the exon 3 of the PHOX2B gene among the healthy individuals. The number of GCN repeats in 518 healthy individuals was all below 20. The selection of appropriate methods can accurately detect the polyalanine repeat mutations (PARMs) of the PHOX2B gene, which is conducive to the early diagnosis, intervention and treatment of CCHS.

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