The rapid development of artificial intelligence (AI), especially generative AI (GenAI), has already brought, and will continue to bring, revolutionary changes to our daily production and life, as well as create new opportunities and challenges for diagnostic and therapeutic practices in the medical field. Haihe Hospital of Tianjin University collaborates with the National Supercomputer Center in Tianjin, Tianjin University, and other institutions to carry out research in areas such as smart healthcare, smart services, and smart management. We have conducted research and development of a full-process disease diagnosis and treatment assistance system based on GenAI in the field of smart healthcare. The development of this project is of great significance. The first goal is to upgrade and transform the hospital's information center, organically integrate it with existing information systems, and provide the necessary computing power storage support for intelligent services within the hospital. We have implemented the localized deployment of three models: Tianhe "Tianyuan", WiNGPT, and DeepSeek. The second is to create a digital avatar of the chief physician/chief physician's voice and image by integrating multimodal intelligent interaction technology. With generative intelligence as the core, this solution provides patients with a visual medical interaction solution. The third is to achieve deep adaptation between generative intelligence and the entire process of patient medical treatment. In this project, we have developed assistant tools such as intelligent inquiry, intelligent diagnosis and recognition, intelligent treatment plan generation, and intelligent assisted medical record generation to improve the safety, quality, and efficiency of the diagnosis and treatment process. This study introduces the content of a full-process disease diagnosis and treatment assistance system, aiming to provide references and insights for the digital transformation of the healthcare industry.
Artificial Intelligence ; Humans ; Delivery of Health Care ; Generative Artificial Intelligence

Objective:To investigate the characteristics of β and γ oscillations in Parkinson's disease (PD) patients with levodopa-induced dyskinesia (LID).Methods:Seventeen patients with advanced idiopathic PD received subthalamic nucleus deep brain stimulation (STN-DBS) from August 2019 to June 2021 at Department of Neurosurgery, First Affiliated Hospital of Zhengzhou University were enrolled; 11 patients were without LID before surgery (PD group) and 6 patients were with LID before surgery (LID group). Preoperative electrophysiological data of the STN, including Area under power spectral density (PSD-AUC), burst amplitude and duration of β and γ oscillations, were compared between the two groups.Results:PSD-AUC of β oscillation at 25-35 Hz in the PD group (60.39±1.00) was significantly increased compared with that in the LID group (54.33±0.55), whereas the PSD-AUC of γ oscillation at 65-85 Hz in the LID group (97.31±1.84) was significantly increased compared with that in the PD group (41.52±7.42, P<0.05). The aburst mplitude and duration of β oscillation in the PD group were significantly increased compared with those in the LID group ([8.52±1.00] au] vs. [1.09±0.13] au, [13 344±2 069] ms vs. [1 442±128] ms, P<0.05), while the burst amplitude and duration of γ oscillation in the LID group were significantly higher than those in the PD group ([5.03±0.55] au vs. [0.14±0.01] au, [12 276±5 011] ms vs. [1 741±233] ms, P<0.05). Conclusion:The imbalance of β-γ oscillations in the STN is associated with LID pathophysiology.

Objective:To explore the efficacy and safety of mitotane in adrenal cortical carcinoma (ACC) at high risk of recurrence.Methods:A prospective observational study was designed from September 2022 to November 2023. ACC patients undergoing surgery with high recurrence risk (positive margin or Ki-67 index >10% or capsule rupture or large size or high-grade ACC) in Peking Union Medical College Hospital were enrolled in this study. All patients started mitotane treatment within 3 months after surgery, with a dose of 1.5 g/d, increased by 0.5 g per week. Once the dose reached 3 g/day, adjustments were made based on blood concentration levels. All patients received mitotane therapy for at least 1 year, and CT was performed every 12 weeks to evaluate the efficacy. The primary endpoint was 1-year progression-free survival (PFS) and safety. The efficacy was analyzed by Kaplan-Meier method for survival, and the occurrence of treatment-related adverse events was summarized.Results:A total of 12 ACC patients at high risk of recurrence were screened, comprising 6 males and 6 females. Tumors were located on the left side in 8 patients, on the right in 3, and bilaterally in 1. Five patients were classified as ENSAT stageⅡ, while 7 were classified as ENSAT stage Ⅲ. The maximum diameter of tumor was (9.07 ± 2.86) cm; the median age at diagnosis was 48 (35, 51) years, and the median Ki-67 index was (28.9 ± 16.1)%. The median time from surgery to initiation of mitotane therapy was 31 (23.0, 43.2) days, and 9 patients had blood drug concentrations of 14-20 mg/L. The median follow-up time was 16.7 (12.4, 25.2) months. At 1 year after mitotane therapy, 10 (83.8%) patients were still in disease-free survival state, with a median mitotane PFS of 27.6 months (95% CI 16.4-not reached). All ACC patients experienced 1-2 grade adverse events after taking mitotane. One patient (8.3%) experienced grade 3 adverse event, including the increasing of alanine aminotransferase and aspartate aminotransferase, as well as anorexia. No grade 4-5 adverse events occurred. The most common adverse events were gastrointestinal symptoms (10 cases), including nausea, vomiting, anorexia, and diarrhea, followed by liver function damage(9 cases) and neurotoxicity(4 cases). Conclusions:Mitotane has shown the prospect of improving the prognosis of ACC patients at high risk of recurrence after surgery. Because of its serious toxic and side effects, it is necessary to monitor its blood concentration to adjust the dosage, and take measures for adverse reactions to ensure the safety of patients.

OBJECTIVE: To investigate the clinical characteristics and genetic etiology of a Chinese pedigree affected with Hereditary dentin dysplasia type II (DD-II) due to variant of dentin sialophosphoprotein (DSPP) gene. METHODS: A child diagnosed with DD- II at the Third Clinical Division of Peking University Hospital of Stomatology in December 2021 and her family members were selected as study subjects. Clinical data were retrospectively analyzed. Saliva samples were collected from the proband, her parents and sister for genomic DNA extraction. Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing and TOPO-TA cloning sequencing. The candidate variant was also subjected to bioinformatics analysis using Mutation Taster v2021. Secondary and tertiary structures of the wild-type and variant DSPP proteins were predicted with psipred v4.0 and PyMOL v2.3 software, respectively. The pathogenicity of the variant was classified based on the guidelines from American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Peking University Hospital of Stomatology (Ethics No.: PKUSSIRB-202162021). RESULTS: The proband and her mother and sister had all exhibited typical clinical manifestations of hereditary DD-II. The primary dentition of the proband displayed yellowish brown discoloration, wear, and obliteration in the chamber and root canal, while the permanent teeth of the proband's sister and mother appeared nearly normal in both color and appearance, though with obliteration in the chamber and root canal. Her father showed normal dentition. WES identified a heterozygous c.1915_1918delAAGT, p.(Lys639Glnfs*674) frameshift variant in the DSPP gene. Sanger sequencing and TOPO-TA cloning sequencing confirmed the presence of this variant in the proband, the proband's sister, and the mother, while the proband's father was negative for the variant, indicating an autosomal dominant inheritance pattern. The variant was predicted to be pathogenic by Mutation Taster v2021. Prediction of the secondary structure of the DSPP protein showed that the variant has changed it from coil to helix. The tertiary structure prediction of the DSPP protein showed change of the spatial structure of the variant DSPP, with the loops in the variant region replaced by helices at multiple sites. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP1+PP4). CONCLUSION Phenotypic analysis and genetic testing of this family has clarified the clinical diagnosis of hereditary DD- II. The c.1915_1918delAAGT variant probably underlay the pathogenesis of DD-II in this family. Above results have expanded the phenotypic spectrum of the disease and may contribute to further clinical and genetic research on this disease.
Humans ; Pedigree ; Female ; Extracellular Matrix Proteins/chemistry* ; Male ; Sialoglycoproteins/chemistry* ; Dentin Dysplasia/genetics* ; Asian People/genetics* ; Phosphoproteins/chemistry* ; Child ; Mutation ; China ; Exome Sequencing ; Adult ; East Asian People

Objective To explore the effects of commonly used rapid imaging techniques on the image quality of cerebral three-dimensional time-of-flight magnetic resonance angiography(3D-TOF-MRA)and to select the optimal imaging technique for clinical use.Methods Thirty subjects were prospectively recruited,and five sets of 3D-TOF-MRA images were acquired as follows:non-acceleration(reference group),intra-layer parallel imaging(PI)(1D group),inter-layer PI(2D group),compressed sensing(CS)group,and artificial intelligence-assisted compressive sensing(ACS)group.The metrics including clarity,pseudo-stenosis,signal-to-noise ratio(SNR),contrast-to-noise ratio(CNR),and edge sharpness of the intracranial proximal,middle,and distal blood vessels were quantitatively or qualitatively assessed.Results There were no significant differences in the clarity of intracranial proximal and middle blood vessels between the groups(P＞0.05).The clarity of distal blood vessels in the ACS group was superior to that in the other groups,and the CS and 2D groups were superior to the 1D group.Compared to the reference group,no stenosis was observed in any segment of the blood vessels in the ACS group,while the incidence of stenosis in the distal blood vessels of the 1D,2D,and CS groups was 36.67％,13.33％,and 6.67％,respectively.The SNR of the proximal and middle blood vessels in the ACS group did not differ from the reference group,and the SNR of the proximal,middle,and distal segments was higher than that in the 1D and CS groups,and higher than the 2D group for the proximal and distal segments.The CNR of the proximal,middle,and distal segments in the ACS group did not differ from the reference group,and was higher than that of the 1D and CS groups,and higher than the 2D group for the proximal and distal segments.The edge sharpness of the ACS group was significantly higher than that of the other groups.Conclusion ACS technology can accelerate the imaging speed and improve the image quality of cerebral 3D-TOF-MRA.It is recommended for use.

Objective:To explore common characteristics and core challenges in the family parenting process of preschool children, identify key issues in parenting practices in rural revitalization areas, and provide a reference for developing localized family intervention strategies in China.Methods:Using purposive sampling, caregivers of preschool children ( n=26) were recruited from a kindergarten in Shuangbai County, Chuxiong Yi Autonomous Prefecture, Yunnan Province, from May to August 2024. A descriptive qualitative research method was adopted. Directed content analysis and conventional content analysis were combined to analyze interview transcripts and family parenting records, extracting core themes and characteristic issues in parenting practices. Results:A total of 881 minutes of interviews were conducted, resulting in approximately 260 000 words of transcripts and text materials. A total of five core themes and 13 sub-themes were summarized, covering access to health information and scientific parenting knowledge, imbalance between parenting needs and objective resource supply, safety care, responsive care, and weak family collaboration systems.Conclusions:Families in rural revitalization areas currently face problems such as limited access to information, insufficient scientific parenting resources, and weak family collaboration functions. It is recommended to optimize parenting practices by deepening the integration of medical and educational resources, strengthening health information channels, and building an integrated "family-school-community" intervention framework.

Objective:To explore the efficacy and safety of mitotane in adrenal cortical carcinoma (ACC) at high risk of recurrence.Methods:A prospective observational study was designed from September 2022 to November 2023. ACC patients undergoing surgery with high recurrence risk (positive margin or Ki-67 index >10% or capsule rupture or large size or high-grade ACC) in Peking Union Medical College Hospital were enrolled in this study. All patients started mitotane treatment within 3 months after surgery, with a dose of 1.5 g/d, increased by 0.5 g per week. Once the dose reached 3 g/day, adjustments were made based on blood concentration levels. All patients received mitotane therapy for at least 1 year, and CT was performed every 12 weeks to evaluate the efficacy. The primary endpoint was 1-year progression-free survival (PFS) and safety. The efficacy was analyzed by Kaplan-Meier method for survival, and the occurrence of treatment-related adverse events was summarized.Results:A total of 12 ACC patients at high risk of recurrence were screened, comprising 6 males and 6 females. Tumors were located on the left side in 8 patients, on the right in 3, and bilaterally in 1. Five patients were classified as ENSAT stageⅡ, while 7 were classified as ENSAT stage Ⅲ. The maximum diameter of tumor was (9.07 ± 2.86) cm; the median age at diagnosis was 48 (35, 51) years, and the median Ki-67 index was (28.9 ± 16.1)%. The median time from surgery to initiation of mitotane therapy was 31 (23.0, 43.2) days, and 9 patients had blood drug concentrations of 14-20 mg/L. The median follow-up time was 16.7 (12.4, 25.2) months. At 1 year after mitotane therapy, 10 (83.8%) patients were still in disease-free survival state, with a median mitotane PFS of 27.6 months (95% CI 16.4-not reached). All ACC patients experienced 1-2 grade adverse events after taking mitotane. One patient (8.3%) experienced grade 3 adverse event, including the increasing of alanine aminotransferase and aspartate aminotransferase, as well as anorexia. No grade 4-5 adverse events occurred. The most common adverse events were gastrointestinal symptoms (10 cases), including nausea, vomiting, anorexia, and diarrhea, followed by liver function damage(9 cases) and neurotoxicity(4 cases). Conclusions:Mitotane has shown the prospect of improving the prognosis of ACC patients at high risk of recurrence after surgery. Because of its serious toxic and side effects, it is necessary to monitor its blood concentration to adjust the dosage, and take measures for adverse reactions to ensure the safety of patients.

Objective:To investigate the characteristics of β and γ oscillations in Parkinson's disease (PD) patients with levodopa-induced dyskinesia (LID).Methods:Seventeen patients with advanced idiopathic PD received subthalamic nucleus deep brain stimulation (STN-DBS) from August 2019 to June 2021 at Department of Neurosurgery, First Affiliated Hospital of Zhengzhou University were enrolled; 11 patients were without LID before surgery (PD group) and 6 patients were with LID before surgery (LID group). Preoperative electrophysiological data of the STN, including Area under power spectral density (PSD-AUC), burst amplitude and duration of β and γ oscillations, were compared between the two groups.Results:PSD-AUC of β oscillation at 25-35 Hz in the PD group (60.39±1.00) was significantly increased compared with that in the LID group (54.33±0.55), whereas the PSD-AUC of γ oscillation at 65-85 Hz in the LID group (97.31±1.84) was significantly increased compared with that in the PD group (41.52±7.42, P<0.05). The aburst mplitude and duration of β oscillation in the PD group were significantly increased compared with those in the LID group ([8.52±1.00] au] vs. [1.09±0.13] au, [13 344±2 069] ms vs. [1 442±128] ms, P<0.05), while the burst amplitude and duration of γ oscillation in the LID group were significantly higher than those in the PD group ([5.03±0.55] au vs. [0.14±0.01] au, [12 276±5 011] ms vs. [1 741±233] ms, P<0.05). Conclusion:The imbalance of β-γ oscillations in the STN is associated with LID pathophysiology.

Objective:To explore common characteristics and core challenges in the family parenting process of preschool children, identify key issues in parenting practices in rural revitalization areas, and provide a reference for developing localized family intervention strategies in China.Methods:Using purposive sampling, caregivers of preschool children ( n=26) were recruited from a kindergarten in Shuangbai County, Chuxiong Yi Autonomous Prefecture, Yunnan Province, from May to August 2024. A descriptive qualitative research method was adopted. Directed content analysis and conventional content analysis were combined to analyze interview transcripts and family parenting records, extracting core themes and characteristic issues in parenting practices. Results:A total of 881 minutes of interviews were conducted, resulting in approximately 260 000 words of transcripts and text materials. A total of five core themes and 13 sub-themes were summarized, covering access to health information and scientific parenting knowledge, imbalance between parenting needs and objective resource supply, safety care, responsive care, and weak family collaboration systems.Conclusions:Families in rural revitalization areas currently face problems such as limited access to information, insufficient scientific parenting resources, and weak family collaboration functions. It is recommended to optimize parenting practices by deepening the integration of medical and educational resources, strengthening health information channels, and building an integrated "family-school-community" intervention framework.

Objective To explore the effects of commonly used rapid imaging techniques on the image quality of cerebral three-dimensional time-of-flight magnetic resonance angiography(3D-TOF-MRA)and to select the optimal imaging technique for clinical use.Methods Thirty subjects were prospectively recruited,and five sets of 3D-TOF-MRA images were acquired as follows:non-acceleration(reference group),intra-layer parallel imaging(PI)(1D group),inter-layer PI(2D group),compressed sensing(CS)group,and artificial intelligence-assisted compressive sensing(ACS)group.The metrics including clarity,pseudo-stenosis,signal-to-noise ratio(SNR),contrast-to-noise ratio(CNR),and edge sharpness of the intracranial proximal,middle,and distal blood vessels were quantitatively or qualitatively assessed.Results There were no significant differences in the clarity of intracranial proximal and middle blood vessels between the groups(P＞0.05).The clarity of distal blood vessels in the ACS group was superior to that in the other groups,and the CS and 2D groups were superior to the 1D group.Compared to the reference group,no stenosis was observed in any segment of the blood vessels in the ACS group,while the incidence of stenosis in the distal blood vessels of the 1D,2D,and CS groups was 36.67％,13.33％,and 6.67％,respectively.The SNR of the proximal and middle blood vessels in the ACS group did not differ from the reference group,and the SNR of the proximal,middle,and distal segments was higher than that in the 1D and CS groups,and higher than the 2D group for the proximal and distal segments.The CNR of the proximal,middle,and distal segments in the ACS group did not differ from the reference group,and was higher than that of the 1D and CS groups,and higher than the 2D group for the proximal and distal segments.The edge sharpness of the ACS group was significantly higher than that of the other groups.Conclusion ACS technology can accelerate the imaging speed and improve the image quality of cerebral 3D-TOF-MRA.It is recommended for use.