Objective:To investigate the clinical phenotypes and genetic variant characteristics in children with epilepsy.Methods:A total of 91 children with epilepsy admitted to the Women′s and Children′s Hospital Affiliated to Ningbo University from July 2021 to October 2022 were selected as the study subjects. Peripheral blood samples were collected from the children for whole exome sequencing. Candidate genetic variants were validated by Sanger sequencing and copy number variation sequencing (CNV-seq). The clinical phenotypes and treatment outcomes of the children with epilepsy were followed up, and an analysis of the relationship between genotype and phenotype was conducted. This study was approved by the Women′s and Children′s Hospital Affiliated to Ningbo University (Ethics No.: EC2020-048).Results:Among the 91 children with epilepsy, 21 cases (23.08%, 21/91) were found to carry pathogenic or likely pathogenic variants. Of these, 18 cases had involved single base variant or insertional deletion, while 3 cases involved copy number variations. The gene with the highest detection rate was PRRT2 (38.10%, 8/21). Among the children with genetic variants, 47.62% (10/21) had onset during infancy, with 8 diagnosed with Benign familial infantile epilepsy (BFIE), 8 with Developmental epileptic encephalopathy (DEE), and 3 with Epileptic encephalopathy (EE). One case of Dravet syndrome (DS) and one case of Infantile spasms (IS) were also noted. The clinical manifestations of children were diverse and primarily included generalized tonic-clonic seizures and focal seizures. Among them, 52.38% (11/21) had exhibited cluster seizures, 23.81% (5/21) showed fever sensitivity, and 14.29% (3/21) experienced status epilepticus. After pharmacological treatment, 42.86% (9/21) of children had achieved complete seizure control, while 61.90% (13/21) had intellectual disability and 19.05% (4/21) had co-morbid autism spectrum disorder. Conclusion:Pathogenic or likely pathogenic variants were identified in 23.08% of the pediatric epilepsy cases, with the PRRT2 gene being the most frequently involved. Among children carrying genetic variants, 47.62% had seizure onset during infancy. Genetic factors are an important cause of epilepsy, and early genetic testing may facilitate precise diagnosis, treatment, and prognostic evaluation.

Abstract Modern western medicine typically focuses on treating specific symptoms or diseases, and traditional Chinese medicine (TCM) emphasizes the interconnections of the body’s various systems under external environment and takes a holistic approach to preventing and treating diseases. Phenomics was initially introduced to the field of TCM in 2008 as a new discipline that studies the laws of integrated and dynamic changes of human clinical phenomes under the scope of the theories and practices of TCM based on phenomics. While TCM Phenomics 1.0 has initially established a clinical phenomic system centered on Zhenghou (a TCM definition of clinical phenome), bottlenecks remain in data standardization, mechanistic interpretation, and precision intervention. Here, we systematically elaborates on the theoretical foundations, technical pathways, and future challenges of integrating digital medicine with TCM phenomics under the framework of “TCM phenomics 2.0”, which is supported by digital medicine technologies such as artificial intelligence, wearable devices, medical digital twins, and multi-omics integration. This framework aims to construct a closed-loop system of “Zhenghou–Phenome–Mechanism–Intervention” and to enable the digitization, standardization, and precision of disease diagnosis and treatment. The integration of digital medicine and TCM phenomics not only promotes the modernization and scientific transformation of TCM theory and practice but also offers new paradigms for precision medicine. In practice, digital tools facilitate multi-source clinical data acquisition and standardization, while AI and big data algorithms help reveal the correlations between clinical Zhenghou phenomes and molecular mechanisms, thereby improving scientific rigor in diagnosis, efficacy evaluation, and personalized intervention. Nevertheless, challenges persist, including data quality and standardization issues, shortage of interdisciplinary talents, and insufficiency of ethical and legal regulations. Future development requires establishing national data-sharing platforms, strengthening international collaboration, fostering interdisciplinary professionals, and improving ethical and legal frameworks. Ultimately, this approach seeks to build a new disease identification and classification system centered on phenomes and to achieve the inheritance, innovation, and modernization of TCM diagnostic and therapeutic patterns.

OBJECTIVE: To investigate the clinical phenotypes and genetic variant characteristics in children with epilepsy. METHODS: A total of 91 children with epilepsy admitted to the Women's and Children's Hospital Affiliated to Ningbo University from July 2021 to October 2022 were selected as the study subjects. Peripheral blood samples were collected from the children for whole exome sequencing. Candidate genetic variants were validated by Sanger sequencing and copy number variation sequencing (CNV-seq). The clinical phenotypes and treatment outcomes of the children with epilepsy were followed up, and an analysis of the relationship between genotype and phenotype was conducted. This study was approved by the Women's and Children's Hospital Affiliated to Ningbo University (Ethics No.: EC2020-048). RESULTS: Among the 91 children with epilepsy, 21 cases (23.08%, 21/91) were found to carry pathogenic or likely pathogenic variants. Of these, 18 cases had involved single base variant or insertional deletion, while 3 cases involved copy number variations. The gene with the highest detection rate was PRRT2 (38.10%, 8/21). Among the children with genetic variants, 47.62% (10/21) had onset during infancy, with 8 diagnosed with Benign familial infantile epilepsy (BFIE), 8 with Developmental epileptic encephalopathy (DEE), and 3 with Epileptic encephalopathy (EE). One case of Dravet syndrome (DS) and one case of Infantile spasms (IS) were also noted. The clinical manifestations of children were diverse and primarily included generalized tonic-clonic seizures and focal seizures. Among them, 52.38% (11/21) had exhibited cluster seizures, 23.81% (5/21) showed fever sensitivity, and 14.29% (3/21) experienced status epilepticus. After pharmacological treatment, 42.86% (9/21) of children had achieved complete seizure control, while 61.90% (13/21) had intellectual disability and 19.05% (4/21) had co-morbid autism spectrum disorder. CONCLUSION Pathogenic or likely pathogenic variants were identified in 23.08% of the pediatric epilepsy cases, with the PRRT2 gene being the most frequently involved. Among children carrying genetic variants, 47.62% had seizure onset during infancy. Genetic factors are an important cause of epilepsy, and early genetic testing may facilitate precise diagnosis, treatment, and prognostic evaluation.
Humans ; Female ; Male ; Epilepsy/genetics* ; Child, Preschool ; Child ; Phenotype ; Genotype ; DNA Copy Number Variations/genetics* ; Infant ; Membrane Proteins/genetics* ; Nerve Tissue Proteins/genetics* ; Adolescent ; Exome Sequencing

Objective To investigate the current nursing practice of nurses specializing in nutritional support in ICUs and analyze their influencing factors in order to improve the training program and promote the development of standardized and precise nursing practice.Methods Convenience sampling method was used to select nutritional support nurses in ICUs in 29 provinces(autonomous regions and municipalities)from October 2023 to March 2025,and the self-developed questionnaire on nursing practice behaviors of nutritional support nurses in ICUs was used to conduct the survey.SPSS 21.0 software was used for descriptive analysis and multiple linear regression analysis.Results A total of 774 questionnaires were distributed,and 766 valid questionnaires were collected,with a recovery rate of 98.97％,and the score of the questionnaire on nursing practice behaviors of nurses specializing in nutritional support in ICU was(90.41±1 1.82).The results of multiple linear regression analysis showed that gender,presence of a nutritional support nursing team in the hospital,a standardized process of nutritional support nursing in the department,clear positional responsibilities of the nutritional support nursing team members,and inclusion of the nutritional support status of the patients in the quality management of the department were the factors influencing the nursing practice behavior scores of the nurses specializing in nutritional support in ICUs(P＜0.05).Conclusion Nurses in the ICUs have a high level of nursing practice behavior,but there is a need for further standardization in parenteral nutrition infusion and monitoring of complications.ICU nursing managers should formulate improvement strategies to address the weaknesses of clinical practice,strengthen nutritional support training,and improve the quality management program,and further improve the practical ability of nurses specializing in nutritional support.

Objective:To assess the effects of allergens on interleukin-18 (IL-18), IL-18 binding protein a (IL-18BPa), and IL-18 receptor α (IL-18Rα) expression levels in different monocyte subtypes of the peripheral blood samples of allergic asthma (AA) patients, and the correlations between the percentage of IL-18 +classical monocytes and plasma levels of pro-inflammatory cytokines. Methods:A cross-sectional study. Blood samples were collected from 28 healthy controls and 33 patients experiencing acute attack of AA based on a positive skin prick test of Henan Provincial People′s Hospital from February 2023 to April 2024. Flow cytometry was used to assess the effects of allergens on IL-18, IL-18BPa, and IL-18Rα expression levels in the classical, intermediate, and non-classical monocytes of the peripheral blood samples of AA patients. Kruskal-Wallis test and Pairwise test were used to analyze statistical significance between groups. Plasma tumor necrosis factor α (TNF-α) and interleukin 1β (IL-1β) levels were estimated using Bioplex assays. Pearson correlation test was used to determine the association between the percentage of IL-18 +classical monocytes and the plasma levels of IL-1β and TNF-α. Results:Compared with healthy controls, the percentages of classical and non-classical monocytes in the peripheral blood of AA patients were reduced by 20.2% ( Z=-3.89, P<0.001) and 45.8% ( Z=-4.01, P<0.001), respectively. Allergens increased the percentages of classical, intermediate, and non-classical monocytes in AA patients in vitro by 13.1%-61.5% (all P<0.05). Compared with healthy controls, the percentages of IL-18 expression in classical monocytes of AA patients was elevated by 1.08-fold ( Z=-6.40, P<0.001), whereas the percentages of IL-18 expression in intermediate and non-classical monocytes were reduced by 52.7% ( Z=-6.40, P<0.001) and 3.23% ( Z=-3.13, P=0.001), respectively. Allergens upregulated IL-18 expression by 16.4%-67.8% in the classical and intermediate monocytes of AA patients (all P<0.05). Compared with healthy controls, IL-18BPa expression level was lower in the three monocyte subtypes of AA patients (all P<0.05). However, allergens upregulated IL-18BPa expression by 8.9% and 13.3% in the classical monocytes (both P<0.05). Compared with healthy controls, IL-18Rα expression was elevated by 1.29-fold in the classical monocytes of AA patients ( Z=-6.40, P<0.001). Allergens upregulated IL-18Rα expression by 17.6%-39.2% in the three monocyte subtypes of AA patients (all P<0.05). Plasma levels of IL-1β and TNF-α in the AA patients were increased compared to those in healthy controls (all P<0.001), and correlated with the percentage of IL-18 +classical monocytes ( r=0.451, 0.714; both P<0.05). Conclusions:Allergens may participate in the inflammatory response of AA by inducing the differentiation of monocytes and the expression levels of IL-18, IL-18BPa and IL-18Rα in different blood monocytes subtypes. Classical monocytes are the potential source of elevated plasma IL-18 level in AA patients.

Objective:To describe the current status and research methods of external validation studies of risk prediction models conducted by nursing scholars in China.Methods:Using the search terms "predictive model, external validation, nursing, risk prediction, external validation, nursing" this study searched eight databases (China Biology Medicine disc, China National Knowledge Infrastructure, Wanfang Data, VIP, Embase, PubMed, CINAHL, and Web of Science) for studies published up to June 2023. Literature was imported into EndNote software for organization and deduplication. Two researchers independently conducted initial and secondary screenings by reading the titles, abstracts, and full texts of studies according to inclusion and exclusion criteria. Descriptive analysis was conducted on the included studies under the framework of the Joanna Briggs Institute (JBI) scoping review methodology.Results:A total of 70 studies (15 dissertations and 55 journal articles), primarily published from 2021 to 2023, were included. Among 246 risk prediction models constructed by nurses, 28.5% (70/246) underwent external validation. The models focused on issues such as infection, cognitive impairment, skin injury, thrombosis, and malnutrition. Most studies were conducted in single-center settings (71.4%, 50/70), with temporal validation being the most common type (67.1%, 47/70). The majority of models were presented as nomograms, though some studies had methodological issues in validation.Conclusions:In recent years, new prediction models for specific diseases or endpoints have continued to emerge from nursing research in China, yet few have undergone external validation for clinical application, and the quality and methods of validation require improvement. Future researchers should standardize and strengthen the external validation and optimization of risk prediction models, focusing on clinical applicability to enhance the practical value of these models.

Objective To investigate the current nursing practice of nurses specializing in nutritional support in ICUs and analyze their influencing factors in order to improve the training program and promote the development of standardized and precise nursing practice.Methods Convenience sampling method was used to select nutritional support nurses in ICUs in 29 provinces(autonomous regions and municipalities)from October 2023 to March 2025,and the self-developed questionnaire on nursing practice behaviors of nutritional support nurses in ICUs was used to conduct the survey.SPSS 21.0 software was used for descriptive analysis and multiple linear regression analysis.Results A total of 774 questionnaires were distributed,and 766 valid questionnaires were collected,with a recovery rate of 98.97％,and the score of the questionnaire on nursing practice behaviors of nurses specializing in nutritional support in ICU was(90.41±1 1.82).The results of multiple linear regression analysis showed that gender,presence of a nutritional support nursing team in the hospital,a standardized process of nutritional support nursing in the department,clear positional responsibilities of the nutritional support nursing team members,and inclusion of the nutritional support status of the patients in the quality management of the department were the factors influencing the nursing practice behavior scores of the nurses specializing in nutritional support in ICUs(P＜0.05).Conclusion Nurses in the ICUs have a high level of nursing practice behavior,but there is a need for further standardization in parenteral nutrition infusion and monitoring of complications.ICU nursing managers should formulate improvement strategies to address the weaknesses of clinical practice,strengthen nutritional support training,and improve the quality management program,and further improve the practical ability of nurses specializing in nutritional support.

Objective:To describe the current status and research methods of external validation studies of risk prediction models conducted by nursing scholars in China.Methods:Using the search terms "predictive model, external validation, nursing, risk prediction, external validation, nursing" this study searched eight databases (China Biology Medicine disc, China National Knowledge Infrastructure, Wanfang Data, VIP, Embase, PubMed, CINAHL, and Web of Science) for studies published up to June 2023. Literature was imported into EndNote software for organization and deduplication. Two researchers independently conducted initial and secondary screenings by reading the titles, abstracts, and full texts of studies according to inclusion and exclusion criteria. Descriptive analysis was conducted on the included studies under the framework of the Joanna Briggs Institute (JBI) scoping review methodology.Results:A total of 70 studies (15 dissertations and 55 journal articles), primarily published from 2021 to 2023, were included. Among 246 risk prediction models constructed by nurses, 28.5% (70/246) underwent external validation. The models focused on issues such as infection, cognitive impairment, skin injury, thrombosis, and malnutrition. Most studies were conducted in single-center settings (71.4%, 50/70), with temporal validation being the most common type (67.1%, 47/70). The majority of models were presented as nomograms, though some studies had methodological issues in validation.Conclusions:In recent years, new prediction models for specific diseases or endpoints have continued to emerge from nursing research in China, yet few have undergone external validation for clinical application, and the quality and methods of validation require improvement. Future researchers should standardize and strengthen the external validation and optimization of risk prediction models, focusing on clinical applicability to enhance the practical value of these models.

Objective:To investigate the clinical phenotypes and genetic variant characteristics in children with epilepsy.Methods:A total of 91 children with epilepsy admitted to the Women′s and Children′s Hospital Affiliated to Ningbo University from July 2021 to October 2022 were selected as the study subjects. Peripheral blood samples were collected from the children for whole exome sequencing. Candidate genetic variants were validated by Sanger sequencing and copy number variation sequencing (CNV-seq). The clinical phenotypes and treatment outcomes of the children with epilepsy were followed up, and an analysis of the relationship between genotype and phenotype was conducted. This study was approved by the Women′s and Children′s Hospital Affiliated to Ningbo University (Ethics No.: EC2020-048).Results:Among the 91 children with epilepsy, 21 cases (23.08%, 21/91) were found to carry pathogenic or likely pathogenic variants. Of these, 18 cases had involved single base variant or insertional deletion, while 3 cases involved copy number variations. The gene with the highest detection rate was PRRT2 (38.10%, 8/21). Among the children with genetic variants, 47.62% (10/21) had onset during infancy, with 8 diagnosed with Benign familial infantile epilepsy (BFIE), 8 with Developmental epileptic encephalopathy (DEE), and 3 with Epileptic encephalopathy (EE). One case of Dravet syndrome (DS) and one case of Infantile spasms (IS) were also noted. The clinical manifestations of children were diverse and primarily included generalized tonic-clonic seizures and focal seizures. Among them, 52.38% (11/21) had exhibited cluster seizures, 23.81% (5/21) showed fever sensitivity, and 14.29% (3/21) experienced status epilepticus. After pharmacological treatment, 42.86% (9/21) of children had achieved complete seizure control, while 61.90% (13/21) had intellectual disability and 19.05% (4/21) had co-morbid autism spectrum disorder. Conclusion:Pathogenic or likely pathogenic variants were identified in 23.08% of the pediatric epilepsy cases, with the PRRT2 gene being the most frequently involved. Among children carrying genetic variants, 47.62% had seizure onset during infancy. Genetic factors are an important cause of epilepsy, and early genetic testing may facilitate precise diagnosis, treatment, and prognostic evaluation.

Objective:To assess the effects of allergens on interleukin-18 (IL-18), IL-18 binding protein a (IL-18BPa), and IL-18 receptor α (IL-18Rα) expression levels in different monocyte subtypes of the peripheral blood samples of allergic asthma (AA) patients, and the correlations between the percentage of IL-18 +classical monocytes and plasma levels of pro-inflammatory cytokines. Methods:A cross-sectional study. Blood samples were collected from 28 healthy controls and 33 patients experiencing acute attack of AA based on a positive skin prick test of Henan Provincial People′s Hospital from February 2023 to April 2024. Flow cytometry was used to assess the effects of allergens on IL-18, IL-18BPa, and IL-18Rα expression levels in the classical, intermediate, and non-classical monocytes of the peripheral blood samples of AA patients. Kruskal-Wallis test and Pairwise test were used to analyze statistical significance between groups. Plasma tumor necrosis factor α (TNF-α) and interleukin 1β (IL-1β) levels were estimated using Bioplex assays. Pearson correlation test was used to determine the association between the percentage of IL-18 +classical monocytes and the plasma levels of IL-1β and TNF-α. Results:Compared with healthy controls, the percentages of classical and non-classical monocytes in the peripheral blood of AA patients were reduced by 20.2% ( Z=-3.89, P<0.001) and 45.8% ( Z=-4.01, P<0.001), respectively. Allergens increased the percentages of classical, intermediate, and non-classical monocytes in AA patients in vitro by 13.1%-61.5% (all P<0.05). Compared with healthy controls, the percentages of IL-18 expression in classical monocytes of AA patients was elevated by 1.08-fold ( Z=-6.40, P<0.001), whereas the percentages of IL-18 expression in intermediate and non-classical monocytes were reduced by 52.7% ( Z=-6.40, P<0.001) and 3.23% ( Z=-3.13, P=0.001), respectively. Allergens upregulated IL-18 expression by 16.4%-67.8% in the classical and intermediate monocytes of AA patients (all P<0.05). Compared with healthy controls, IL-18BPa expression level was lower in the three monocyte subtypes of AA patients (all P<0.05). However, allergens upregulated IL-18BPa expression by 8.9% and 13.3% in the classical monocytes (both P<0.05). Compared with healthy controls, IL-18Rα expression was elevated by 1.29-fold in the classical monocytes of AA patients ( Z=-6.40, P<0.001). Allergens upregulated IL-18Rα expression by 17.6%-39.2% in the three monocyte subtypes of AA patients (all P<0.05). Plasma levels of IL-1β and TNF-α in the AA patients were increased compared to those in healthy controls (all P<0.001), and correlated with the percentage of IL-18 +classical monocytes ( r=0.451, 0.714; both P<0.05). Conclusions:Allergens may participate in the inflammatory response of AA by inducing the differentiation of monocytes and the expression levels of IL-18, IL-18BPa and IL-18Rα in different blood monocytes subtypes. Classical monocytes are the potential source of elevated plasma IL-18 level in AA patients.