Objective : To screen and analyze mutations in two families with non-syndromic tooth agenesis, providing a theoretical basis for the diagnosis and treatment of tooth agenesis Methods: This study was reviewed and approved by the Medical Ethics Committee, and informed consent was obtained from patients. Information and blood samples from two core families with non-syndromic congenital tooth agenesis were collected, along with blood samples from 100 normal controls. Pathogenic gene mutations were explored through whole exome sequencing and Sanger sequencing. The pathogenicity of the identified mutations was analyzed using prediction software Polyphen-2, CADD, and FAMMTH. The impact of the mutations on protein stability was predicted using Mupro, DUET, and I-Mutant software. Conservation analysis and protein 2D/3D structure analysis were used to predict the impact of mutations on protein function. The impact of the mutant proteins on subcellular localization was predicted using DeepLoc 2.1 software. Results: We identified two novel mutations in the muscle segment homeobox 1 (MSX1) gene: c.547C>A (p.Gln183Lys) and c.854T>C(p.Val285Ala) in the two families. Polyphen-2, CADD, and FATHMM predicted these mutations to be pathogenic, and ACMG classified these mutations as likely pathogenic. Conservation analysis showed that the two mutation sites (Gln183 and Val285) are located in highly conserved regions during evolution. Protein stability predictions indicated that these mutations influence protein stability. Protein 2D structure analysis indicated that these two mutations affect the 2D structure of the protein. 3D structure analysis showed that these two mutations can cause changes in the 3D structure. Software predictions indicated that these mutations do not affect the subcellular localization of the protein. Conclusion This study is the first to report two novel mutations in the MSX1 gene (c.547C>A and c.854T>C) associated with tooth agenesis, providing a basis for clinical diagnosis and treatment of congenital tooth loss.

Objective:To investigate the risk factors for complications following lateral lumbar interbody fusion (LLIF) surgery.Methods:A retrospective analysis was conducted on 196 patients who underwent LLIF surgery via the psoas major muscle approach in the Department of Spinal Surgery, Tianjin Hospital, Tianjin University, from October 2018 to July 2024. The age, gender, body mass index (BMI), presence of hypertension, type 2 diabetes, heart disease, osteoporosis, history of lumbar surgery, history of abdominal surgery, history of abdominal inflammation, smoking status, operative time, surgical segments (whether the surgery was single-segment or multi-segments), and use of internal fixation or not were compared between patients with and without postoperative complications, the indicators with P<0.10 were included in the binary variable logistic regression analysis, and determine the independent risk factors for complications after LLIF surgery. Complications included anterior thigh symptoms (pain, numbness, weakness), cage subsidence, surgery-related complications (nerve injury, surgical site infection, postoperative buttock pain, urinary and fecal incontinence, etc.), and medical complications (cerebrovascular accident, deep vein thrombosis, urinary tract infection, etc.). Results:All 196 patients were followed up for 27.02 (12.6, 40.69) months. Postoperative complications occurred in 71 cases (96 times), and no complications occurred in 125 cases. In the complication group, there were 15 males and 56 females with a mean age of 61.82±7.57 years; in the non-complication group, there were 43 males and 82 females with a mean age of 62.00± 8.39 years. In the complication group, there were 43 cases of anterior thigh symptoms, 38 cases of cage subsidence, 11 cases of surgical operation-related complications, and 4 cases of medical complications. There were statistically significant differences in gender (χ 2=3.829, P=0.051), operation time ( t=2.391, P=0.018), and surgical segment (χ 2=4.245, P=0.039) between the complication group and the non-complication group. No statistically significant differences were found in age, gender, BMI, presence of hypertension, type 2 diabetes, heart disease, osteoporosis, history of lumbar surgery, history of abdominal surgery, history of abdominal inflammation, smoking status, or use of internal fixation ( P>0.10). Binary variable logistic regression analysis indicated that prolonged operative time [ OR=1.007, 95% CI(1.001, 1.013), P=0.019] and multilevel surgery [ OR=2.099, 95% CI(1.095, 4.025), P=0.026] were independent risk factors for complications following LLIF. Conclusion:Prolonged operative time and multi-segments surgery are independent risk factors for complications following LLIF.

Objective To build an inpatient hospital discharge preparation service management platform,to explore its application outcomes,and to enhance the quality of discharge preparation service management.Methods A research team was set up,and the literature was referenced.The platform was built on the basis of connecting and optimizing various existing information systems in the hospital,including 6 modules:evaluation,implementation of nursing,referral,monitoring feedback,follow-up,and continued nursing.Patients admitted to a tertiary comprehensive hospital were conveniently selected as research subjects in Shandong Province from August 2023 to January 2024.The 97 patients included after the platform application(November 2023 to January 2024)were selected as an experimental group,and the 97 patients included before the platform application(August to October 2023)were selected as a control group.The rate of unplanned readmission within 30 days,the utilization rate of"Internet+Nursing Services",and the time for assessing the demand for discharge planning service were compared between the 2 groups.In addition,in February 2024,300 healthcare professionals from the same hospital were selected to evaluate their satisfaction with the use of the platform.Results There were 7 cases dropping out in each of the 2 groups.The rate of unplanned readmission within 30 days in the experimental group was lower than that in the control group;the utilization rate of"Internet+Nursing Services"was higher than that in the control group;the time for assessing the demand for discharge planning service was less than that in the control group,with statistically significant differences(P＜0.05).In the satisfaction survey of medical staff on the use of the platform,the effective questionnaire response rate was 94.67％,and the score of the clinical nursing information system effectiveness evaluation scale was(100.84±16.48)points.Conclusion The use of this platform can reduce the unplanned readmission rate of patients within 30 days,promote the development of"Internet+Nursing Services",reduce the time for assessing the needs of discharge planning services,and medical staff are highly satisfied with the use of the platform.

Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy (CSF1R-L) is a rare autosomal dominant neurodegenerative disorder caused by mutations in the CSF1R gene. It is typically characterized by rapidly progressive cognitive decline, motor dysfunction, and psychiatric or behavioral abnormalities, leading to significant disability and early mortality. More than 100 mutations of CSF1R have been identified in CSF1R-L, but the clinical-genotype relationship is unclear. This report describes a case of CSF1R-L that initially presented with atypical symptoms of left lower limb pain, numbness, and weakness. Despite the non-specific presentation, comprehensive imaging data were available throughout the disease course. Genetic testing identified a heterozygous missense mutation in exon 18 of the CSF1R gene (c.2508CA, p.Ser836Arg), a novel variant not previously reported in the literature. This case offers valuable insights into the dynamic progression of cranial MRI changes in CSF1R-L, broadens the genetic spectrum of this disease, enhances awareness among clinicians, and provides crucial information for the early diagnosis of this condition.

Objective To apply the image recognition method based on distance graph convolutional network to the image processing of malaria-infected erythrocytes for realizing the multi-stage recognition of malaria and improving the diagnostic efficiency of malaria.Methods A multi-stage malaria recognition model based on distance graph convolutional network was proposed.A radial basis function was firstly added in KNN graph construction algorithm to construct adjacency matrix and assign weights to the nearest-neighbor nodes according to the similarity between nodes,so as to weaken the effects of the distant nearest-neighbor nodes on the central node.Then,attention mechanism was introduced to update adjacency matrix dynamically in the graph convolutional network for making the model pay attention to near-neighbor nodes with higher similarity,and finally the multi-stage image recognition of malaria-infected erythrocytes was completed.Results Validated on the Malaria-MIT dataset,the experimental results show that compared with original model,the proposed method improved accuracy,precision,recall rate and F1-score to 96.18%,96.23%,96.18%and 96.18%,respectively.Conclusion The proposed approach can effectively accomplish the task of multi-stage image recognition of malaria-infected erythrocytes.

This study conducted in-depth interviews to analyze the use of textbooks and learning patterns among medical students from various countries and regions and then proposed loose-leaf digital textbooks as a novel pattern of textbooks. Loose-leaf digital textbooks can meet the requirements of both systematic theoretical education in domestic curricula and the self-directed learning approach in foreign education systems. Compared with traditional textbooks, such digital textbooks have the advantages of flexibility, timeliness, and strong interactivity, thereby enhancing learning efficiency and teaching effectiveness among students. The study further explored the modular design and application strategies for loose-leaf digital textbooks and suggested to achieve personalized education through the integration of digital technologies and improve the adaptability and international competitiveness of textbooks. This study provides innovative ideas for teaching reform in Sino-foreign cooperative education programs of clinical medicine.

Objective:To investigate the risk factors for complications following lateral lumbar interbody fusion (LLIF) surgery.Methods:A retrospective analysis was conducted on 196 patients who underwent LLIF surgery via the psoas major muscle approach in the Department of Spinal Surgery, Tianjin Hospital, Tianjin University, from October 2018 to July 2024. The age, gender, body mass index (BMI), presence of hypertension, type 2 diabetes, heart disease, osteoporosis, history of lumbar surgery, history of abdominal surgery, history of abdominal inflammation, smoking status, operative time, surgical segments (whether the surgery was single-segment or multi-segments), and use of internal fixation or not were compared between patients with and without postoperative complications, the indicators with P<0.10 were included in the binary variable logistic regression analysis, and determine the independent risk factors for complications after LLIF surgery. Complications included anterior thigh symptoms (pain, numbness, weakness), cage subsidence, surgery-related complications (nerve injury, surgical site infection, postoperative buttock pain, urinary and fecal incontinence, etc.), and medical complications (cerebrovascular accident, deep vein thrombosis, urinary tract infection, etc.). Results:All 196 patients were followed up for 27.02 (12.6, 40.69) months. Postoperative complications occurred in 71 cases (96 times), and no complications occurred in 125 cases. In the complication group, there were 15 males and 56 females with a mean age of 61.82±7.57 years; in the non-complication group, there were 43 males and 82 females with a mean age of 62.00± 8.39 years. In the complication group, there were 43 cases of anterior thigh symptoms, 38 cases of cage subsidence, 11 cases of surgical operation-related complications, and 4 cases of medical complications. There were statistically significant differences in gender (χ 2=3.829, P=0.051), operation time ( t=2.391, P=0.018), and surgical segment (χ 2=4.245, P=0.039) between the complication group and the non-complication group. No statistically significant differences were found in age, gender, BMI, presence of hypertension, type 2 diabetes, heart disease, osteoporosis, history of lumbar surgery, history of abdominal surgery, history of abdominal inflammation, smoking status, or use of internal fixation ( P>0.10). Binary variable logistic regression analysis indicated that prolonged operative time [ OR=1.007, 95% CI(1.001, 1.013), P=0.019] and multilevel surgery [ OR=2.099, 95% CI(1.095, 4.025), P=0.026] were independent risk factors for complications following LLIF. Conclusion:Prolonged operative time and multi-segments surgery are independent risk factors for complications following LLIF.

Objective To apply the image recognition method based on distance graph convolutional network to the image processing of malaria-infected erythrocytes for realizing the multi-stage recognition of malaria and improving the diagnostic efficiency of malaria.Methods A multi-stage malaria recognition model based on distance graph convolutional network was proposed.A radial basis function was firstly added in KNN graph construction algorithm to construct adjacency matrix and assign weights to the nearest-neighbor nodes according to the similarity between nodes,so as to weaken the effects of the distant nearest-neighbor nodes on the central node.Then,attention mechanism was introduced to update adjacency matrix dynamically in the graph convolutional network for making the model pay attention to near-neighbor nodes with higher similarity,and finally the multi-stage image recognition of malaria-infected erythrocytes was completed.Results Validated on the Malaria-MIT dataset,the experimental results show that compared with original model,the proposed method improved accuracy,precision,recall rate and F1-score to 96.18%,96.23%,96.18%and 96.18%,respectively.Conclusion The proposed approach can effectively accomplish the task of multi-stage image recognition of malaria-infected erythrocytes.

This study conducted in-depth interviews to analyze the use of textbooks and learning patterns among medical students from various countries and regions and then proposed loose-leaf digital textbooks as a novel pattern of textbooks. Loose-leaf digital textbooks can meet the requirements of both systematic theoretical education in domestic curricula and the self-directed learning approach in foreign education systems. Compared with traditional textbooks, such digital textbooks have the advantages of flexibility, timeliness, and strong interactivity, thereby enhancing learning efficiency and teaching effectiveness among students. The study further explored the modular design and application strategies for loose-leaf digital textbooks and suggested to achieve personalized education through the integration of digital technologies and improve the adaptability and international competitiveness of textbooks. This study provides innovative ideas for teaching reform in Sino-foreign cooperative education programs of clinical medicine.

Objective To build an inpatient hospital discharge preparation service management platform,to explore its application outcomes,and to enhance the quality of discharge preparation service management.Methods A research team was set up,and the literature was referenced.The platform was built on the basis of connecting and optimizing various existing information systems in the hospital,including 6 modules:evaluation,implementation of nursing,referral,monitoring feedback,follow-up,and continued nursing.Patients admitted to a tertiary comprehensive hospital were conveniently selected as research subjects in Shandong Province from August 2023 to January 2024.The 97 patients included after the platform application(November 2023 to January 2024)were selected as an experimental group,and the 97 patients included before the platform application(August to October 2023)were selected as a control group.The rate of unplanned readmission within 30 days,the utilization rate of"Internet+Nursing Services",and the time for assessing the demand for discharge planning service were compared between the 2 groups.In addition,in February 2024,300 healthcare professionals from the same hospital were selected to evaluate their satisfaction with the use of the platform.Results There were 7 cases dropping out in each of the 2 groups.The rate of unplanned readmission within 30 days in the experimental group was lower than that in the control group;the utilization rate of"Internet+Nursing Services"was higher than that in the control group;the time for assessing the demand for discharge planning service was less than that in the control group,with statistically significant differences(P＜0.05).In the satisfaction survey of medical staff on the use of the platform,the effective questionnaire response rate was 94.67％,and the score of the clinical nursing information system effectiveness evaluation scale was(100.84±16.48)points.Conclusion The use of this platform can reduce the unplanned readmission rate of patients within 30 days,promote the development of"Internet+Nursing Services",reduce the time for assessing the needs of discharge planning services,and medical staff are highly satisfied with the use of the platform.