Objective To construct large medical model named by "Huaxi HongYi"and explore its application effectiveness in assisting medical record generation. Methods By the way of a full-chain medical large model construction paradigm of "data annotation - model training - scenario incubation", through strategies such as multimodal data fusion, domain adaptation training, and localization of hardware adaptation, "Huaxi HongYi" with 72 billion parameters was constructed. Combined with technologies such as speech recognition, knowledge graphs, and reinforcement learning, an application system for assisting in the generation of medical records was developed. Results Taking the assisted generation of discharge records as an example, in the pilot department, after using the application system, the average completion times of writing a medical records shortened (21 min vs. 5 min) with efficiency increased by 3.2 time, the accuracy rate of the model output reached 92.4%. Conclusion It is feasible for medical institutions to build independently controllable medical large models and incubate various applications based on these models, providing a reference pathway for artificial intelligence development in similar institutions.

Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99％,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.

Objective To explore the prognostic value and immune effects of insulin-like growth factor family 2(IGFL2)in bladder cancer based on data from TCGA,TIMER2.0 and HPA.Methods Bioinformatics analysis was conducted to analyze the expression of IGFL2 in bladder cancer and its relationship with survival and prognosis of bladder cancer patients.The receiver operating characteristic(ROC)curve and prognostic nomogram were plotted to analyze the diagnostic value of IGFL2 for bladder cancer and its ability to predict the 5-year overall survival rate of patients.IGFL2-related signaling pathways were analyzed with GSEA enrichment.The correlation between IGFL2 expression and immune cells was analyzed based on data from the TIMER database.Results IGFL2 was highly expressed in bladder cancer(P＜0.001).The high expression of IGFL2 was positively correlated with patients'age,pathological stage,histological grade and T stage(all P＜0.05).Patients'with high IGFL2 expression had shorter overall survival and disease-specific survival than those with low IGFL2 expression(all P＜0.05).IGFL2 could be used as an independent prognostic factor for bladder cancer with good diagnostic and predictive value.GSEA enrichment analysis showed that IGFL2 was involved in signaling pathways related to immunity,inflammation and tumor.High IGFL2 expression was positively correlated with the infiltration of most immune cells.Conclusion IGFL2 is highly expressed in bladder cancer and can be a biomarker for the diagnosis and prognosis of this disease.It may become a potential target for immunotherapy.

Objective:To analyze the hematological characteristics of patients with three common deletional β-thalassemias (β-thal) and concomitant α-thal in Huizhou, Guangdong province.Methods:A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thal, respectively. The hematological characteristics of patients with the deletional β-thal were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].Results:① A total of 384 cases of the three common deletional β-thal were identified, including 184 cases of Chinese Gγ + ( Aγδβ) 0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Taiwanese, for a total detection rate of 28.76%. ② Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ + ( Aγδβ) 0, the levels of Hb A 2 in patients with the other two deletional β-thal were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletional β-thal heterozygotes ( P<0.05). ③ According to the type of gene variation, 180 patients with Chinese Gγ + ( Aγδβ) 0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ + ( Aγδβ) 0/β N (149), -α/αα, Chinese Gγ + ( Aγδβ) 0/β N (14), and --/αα, Chinese Gγ + ( Aγδβ) 0/β N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β N (150), -α/αα, SEA-HPFH/β N (12), and --/αα, SEA-HPFH/β N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ + ( Aγδβ) 0 combined with α 0-thal group were significantly lower than those of the Chinese Gγ + ( Aγδβ) 0 combined with α + -thal group and the control group ( P<0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α 0-thal group were significantly lower than those of the SEA-HPFH combined with α + -thal group and the control group ( P<0.05). Conclusion:The above research results can not only enhance the ability of clinicians to identify deletional β-thal and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thal prevention and control programme and the development of prenatal and postnatal care.

OBJECTIVE: To explore, identify, and develop novel blood-based indicators using machine learning algorithms for accurate preoperative assessment and effective prediction of postoperative complication risks in patients with rheumatoid arthritis (RA) undergoing total knee arthroplasty (TKA). METHODS: A retrospective cohort study was conducted including RA patients who underwent unilateral TKA between January 2019 and December 2024. Inpatient and 30-day postoperative outpatient follow-up data were collected. Six machine learning algorithms, including decision tree, random forest, logistic regression, support vector machine, extreme gradient boosting, and light gradient boosting machine, were used to construct predictive models. Model performance was evaluated using the area under the receiver operating characteristic curve (AUC), F1-score, accuracy, precision, and recall. SHapley Additive exPlanations (SHAP) values were employed to interpret and rank the importance of individual variables. RESULTS: According to the inclusion criteria, a total of 1 548 patients were enrolled. Ultimately, 18 preoperative indicators were identified as effective predictive features, and 8 postoperative complications were defined as prediction labels for inclusion in the study. Within 30 days after surgery, 453 patients (29.2%) developed one or more complications. Considering overall accuracy, precision, recall, and F1-score, the random forest model [AUC=0.930, 95% CI (0.910, 0.950)] and the extreme gradient boosting model [AUC=0.909, 95% CI (0.880, 0.938)] demonstrated the best predictive performance. SHAP analysis revealed that anti-cyclic citrullinated peptide antibody, C-reactive protein, rheumatoid factor, interleukin-6, body mass index, age, and smoking status made significant contributions to the overall prediction of postoperative complications. CONCLUSION Machine learning-based models enable accurate prediction of postoperative complication risks among RA patients undergoing TKA. Inflammatory and immune-related blood biomarkers, such as anti-cyclic citrullinated peptide antibody, C-reactive protein, and rheumatoid factor, interleukin-6, play key predictive roles, highlighting their potential value in perioperative risk stratification and individualized management.
Humans ; Arthroplasty, Replacement, Knee/adverse effects* ; Arthritis, Rheumatoid/blood* ; Machine Learning ; Postoperative Complications/blood* ; Female ; Male ; Retrospective Studies ; Middle Aged ; Aged ; Risk Factors ; Preoperative Period ; C-Reactive Protein/analysis* ; Risk Assessment

OBJECTIVE: To analyze the hematological characteristics of patients with three common deletional β-thalassemia and concomitant α-thalassemia in Huizhou, Guangdong province. METHODS: A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥ 5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thalassemia, respectively. The hematological characteristics of patients with the deletional β-thalassemia were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)]. RESULTS: A total of 384 cases of the three common deletional β-thalassemia were identified, including 184 cases of Chinese Gγ⁺(Aγδβ)⁰, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Chinese Taiwanese, for a total detection rate of 28.76%. Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A2 levels in patients with Chinese Gγ⁺(Aγδβ)⁰, the levels of Hb A2 in patients with the other two deletional β-thalassemia were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A2 and Hb F values among the groups of the three common deletional β-thalassemia heterozygotes (P < 0.05). According to the type of gene variation, 180 patients with Chinese Gγ⁺(Aγδβ)⁰ heterozygotes were divided into three groups, including αα/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (149), -α/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (14), and --/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β^N (150), -α/αα, SEA-HPFH/β^N (12), and --/αα, SEA-HPFH/β^N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁰-thalassemia group were significantly lower than those of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁺-thalassemia group and the control group (P < 0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α⁰-thalassemia group were significantly lower than those of the SEA-HPFH combined with α⁺-thalassemia group and the control group (P < 0.05). CONCLUSION The above research results can not only enhance the ability of clinicians to identify deletional β-thalassemia and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thalassemia prevention and control programme and the development of prenatal and postnatal care.
Humans ; beta-Thalassemia/complications* ; alpha-Thalassemia/complications* ; Female ; China ; Male ; Adult ; Fetal Hemoglobin/genetics* ; Adolescent ; Young Adult

Objective To evaluate the clinical efficacy of Shenshi Jiangzhuo Formula(composed of Poria,Atractylodis Rhizoma,Magnoliae Officinalis Cortex,Pinelliae Rhizoma Praeparatum,Aurantii Fructus Immaturus,Arecae Semen,Talcum,Tetrapanacis Medulla,Notoginseng Radix et Rhizoma,Paeoniae Radix Rubra,Rubiae Radix et Rhizoma,Broussonetiae Fructus,etc.)in treating non-alcoholic fatty liver disease(NAFLD)with phlegm blended with stasis syndrome.Methods A total of 76 NAFLD patients with phlegm blended with stasis syndrome from the Seventh School of Clinical Medicine,Guangzhou University of Chinese Medicine(Shenzhen Bao'an Traditional Chinese Medicine Hospital)were enrolled between February 2024 and December 2024.The patients were randomly assigned(via random number table)to either the trial group(n=38,treated with Silibinin Meglumine Tablets plus Shenshi Jiangzhuo Formula)or the control group(n=38,treated with Silibinin Meglumine Tablets alone)for 8 weeks.The changes in liver controlled attenuation parameter(CAP),liver function markers[alanine aminotransferase(ALT),aspartate aminotransferase(AST),gamma-glutamyl transferase(GGT)],lipid profiles[triglycerides(TG),total cholesterol(TC),low-density lipoprotein cholesterol(LDL-C)],and traditional Chinese medicine(TCM)syndrome scores were observed before and after treatment.Clinical efficacy and safety were evaluated.Results(1)One case dropped out from each group during the study and 37 cases in each group were included for final statistics.(2)After 8 weeks of treatment,the overall response rate in the trial group was 94.59％(35/37),compared with 62.16％(23/37)in the control group.Intergroup comparison revealed that the trial group demonstrated significantly superior overall therapeutic efficacy(by rank-sum test)and overall response rate(by chi-square test)compared with the control group(P＜0.01).(3)Both groups showed improved CAP values after treatment,and the trial group demonstrated significantly greater improvement compared to the control group(P＜0.01).(4)Post-treatment improvements in alanine aminotransferase(ALT),aspartate aminotransferase(AST),and gamma-glutamyl transferase(GGT)were improved in both groups(P＜0.01),with the trial group showing significantly superior improvements(P＜0.05 or P＜0.01).(5)Triglycerides(TG),total cholesterol(TC),and low-density lipoprotein cholesterol(LDL-C)were improved in both groups after treatment,and the trial group exhibited significantly better outcomes(P＜0.01).(6)Both groups presented reduced TCM syndrome scores after treatment,and the trial group showed greater reduction(P＜0.01).(7)No significant adverse recations were observed in both groups,showing high safety.Conclusion Integrative therapy with Shenshi Jiangzhuo Formula exerts certain effects in improving CAP values,liver function,lipid metabolism,and TCM symptoms in NAFLD patients with phlegm blended with stasis syndrome,demonstrating robust clinical value.

Objective To explore the prognostic value and immune effects of insulin-like growth factor family 2(IGFL2)in bladder cancer based on data from TCGA,TIMER2.0 and HPA.Methods Bioinformatics analysis was conducted to analyze the expression of IGFL2 in bladder cancer and its relationship with survival and prognosis of bladder cancer patients.The receiver operating characteristic(ROC)curve and prognostic nomogram were plotted to analyze the diagnostic value of IGFL2 for bladder cancer and its ability to predict the 5-year overall survival rate of patients.IGFL2-related signaling pathways were analyzed with GSEA enrichment.The correlation between IGFL2 expression and immune cells was analyzed based on data from the TIMER database.Results IGFL2 was highly expressed in bladder cancer(P＜0.001).The high expression of IGFL2 was positively correlated with patients'age,pathological stage,histological grade and T stage(all P＜0.05).Patients'with high IGFL2 expression had shorter overall survival and disease-specific survival than those with low IGFL2 expression(all P＜0.05).IGFL2 could be used as an independent prognostic factor for bladder cancer with good diagnostic and predictive value.GSEA enrichment analysis showed that IGFL2 was involved in signaling pathways related to immunity,inflammation and tumor.High IGFL2 expression was positively correlated with the infiltration of most immune cells.Conclusion IGFL2 is highly expressed in bladder cancer and can be a biomarker for the diagnosis and prognosis of this disease.It may become a potential target for immunotherapy.

Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99％,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.

Objective:To analyze the hematological characteristics of patients with three common deletional β-thalassemias (β-thal) and concomitant α-thal in Huizhou, Guangdong province.Methods:A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thal, respectively. The hematological characteristics of patients with the deletional β-thal were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].Results:① A total of 384 cases of the three common deletional β-thal were identified, including 184 cases of Chinese Gγ + ( Aγδβ) 0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Taiwanese, for a total detection rate of 28.76%. ② Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ + ( Aγδβ) 0, the levels of Hb A 2 in patients with the other two deletional β-thal were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletional β-thal heterozygotes ( P<0.05). ③ According to the type of gene variation, 180 patients with Chinese Gγ + ( Aγδβ) 0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ + ( Aγδβ) 0/β N (149), -α/αα, Chinese Gγ + ( Aγδβ) 0/β N (14), and --/αα, Chinese Gγ + ( Aγδβ) 0/β N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β N (150), -α/αα, SEA-HPFH/β N (12), and --/αα, SEA-HPFH/β N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ + ( Aγδβ) 0 combined with α 0-thal group were significantly lower than those of the Chinese Gγ + ( Aγδβ) 0 combined with α + -thal group and the control group ( P<0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α 0-thal group were significantly lower than those of the SEA-HPFH combined with α + -thal group and the control group ( P<0.05). Conclusion:The above research results can not only enhance the ability of clinicians to identify deletional β-thal and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thal prevention and control programme and the development of prenatal and postnatal care.