1.Systemic Lupus Erythematosus as a Dominant Disease in Traditional Chinese Medicine
Zihan WANG ; Yanyu CHEN ; Yong CUI ; Qingwen TAO ; Mei MO ; Ke XUE ; Xiaoxiao ZHANG ; Yuan XU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):263-269
Systemic lupus erythematosus (SLE), a refractory autoimmune disease, is among the dominant diseases where traditional Chinese medicine (TCM) shows advantages in the field of rheumatology and immunology. The China-Japan Friendship Hospital hosted the "46th Youth Salon on Dominant Diseases (Systemic Lupus Erythematosus)" organized by the China Association of Chinese Medicine, which led to a consensus on "the advantages, challenges, interdisciplinary approaches, and translational achievements of integrated TCM and Western medical approaches in the diagnosis and treatment of SLE." The diagnosis and treatment of SLE currently face several challenges, such as frequent misdiagnosis and missed diagnosis in the early stages, difficulty in achieving treatment targets, multiple side effects from pharmacotherapy, and the lack of management strategies for special populations, all of which hinder the fulfillment of the clinical needs of patients. Integrated TCM and Western medical approaches can improve clinical symptoms such as skin erythema, aversion to cold and cold limbs, fatigue, dry mouth, restlessness, and heat sensation in the palms and soles, thereby improving patients' quality of life. The approaches also help consolidate the efficacy of conventional Western medicine, slow disease progression, reduce relapse rates, address multi-organ involvement, and prevent or treat complications. Additionally, they enhance efficacy and reduce toxicity, prevent the side effects of Western medications, help reduce hormone use, and offer distinct advantages in the individualized intervention of special populations, contributing to the whole-process management of the disease. However, evidence-based medical support for this integrated approach remains limited, and the quality of available evidence is generally low. Common evaluation systems and modern research methodologies should be adopted to clarify the efficacy of TCM in SLE treatment. Efforts should be made to carry out high-quality evidence-based medical research, strengthen the development of fundamental and pharmacological research, and further explain the distinct advantages of TCM in the diagnosis and treatment of SLE. Future efforts should focus on advancing the integration of TCM and modern medicine, incorporating multi-omics technologies, individualized stratification, and other precision medicine concepts, in combination with artificial intelligence. Moreover, interdisciplinary collaboration should be promoted to utilize modern technology in exploring the essence of TCM theories and screening effective formulae, thereby comprehensively improving the diagnosis and treatment of SLE through integrated TCM and Western medical approaches.
2.Systemic Lupus Erythematosus as a Dominant Disease in Traditional Chinese Medicine
Zihan WANG ; Yanyu CHEN ; Yong CUI ; Qingwen TAO ; Mei MO ; Ke XUE ; Xiaoxiao ZHANG ; Yuan XU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):263-269
Systemic lupus erythematosus (SLE), a refractory autoimmune disease, is among the dominant diseases where traditional Chinese medicine (TCM) shows advantages in the field of rheumatology and immunology. The China-Japan Friendship Hospital hosted the "46th Youth Salon on Dominant Diseases (Systemic Lupus Erythematosus)" organized by the China Association of Chinese Medicine, which led to a consensus on "the advantages, challenges, interdisciplinary approaches, and translational achievements of integrated TCM and Western medical approaches in the diagnosis and treatment of SLE." The diagnosis and treatment of SLE currently face several challenges, such as frequent misdiagnosis and missed diagnosis in the early stages, difficulty in achieving treatment targets, multiple side effects from pharmacotherapy, and the lack of management strategies for special populations, all of which hinder the fulfillment of the clinical needs of patients. Integrated TCM and Western medical approaches can improve clinical symptoms such as skin erythema, aversion to cold and cold limbs, fatigue, dry mouth, restlessness, and heat sensation in the palms and soles, thereby improving patients' quality of life. The approaches also help consolidate the efficacy of conventional Western medicine, slow disease progression, reduce relapse rates, address multi-organ involvement, and prevent or treat complications. Additionally, they enhance efficacy and reduce toxicity, prevent the side effects of Western medications, help reduce hormone use, and offer distinct advantages in the individualized intervention of special populations, contributing to the whole-process management of the disease. However, evidence-based medical support for this integrated approach remains limited, and the quality of available evidence is generally low. Common evaluation systems and modern research methodologies should be adopted to clarify the efficacy of TCM in SLE treatment. Efforts should be made to carry out high-quality evidence-based medical research, strengthen the development of fundamental and pharmacological research, and further explain the distinct advantages of TCM in the diagnosis and treatment of SLE. Future efforts should focus on advancing the integration of TCM and modern medicine, incorporating multi-omics technologies, individualized stratification, and other precision medicine concepts, in combination with artificial intelligence. Moreover, interdisciplinary collaboration should be promoted to utilize modern technology in exploring the essence of TCM theories and screening effective formulae, thereby comprehensively improving the diagnosis and treatment of SLE through integrated TCM and Western medical approaches.
3.Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss.
Xinyu SHI ; Xianbao CAO ; Renjie CHAI ; Suijun CHEN ; Juan FENG ; Ningyu FENG ; Xia GAO ; Lulu GUO ; Yuhe LIU ; Ling LU ; Lingyun MEI ; Xiaoyun QIAN ; Dongdong REN ; Haibo SHI ; Duoduo TAO ; Qin WANG ; Zhaoyan WANG ; Shuo WANG ; Wei WANG ; Ming XIA ; Hao XIONG ; Baicheng XU ; Kai XU ; Lei XU ; Hua YANG ; Jun YANG ; Pingli YANG ; Wei YUAN ; Dingjun ZHA ; Chunming ZHANG ; Hongzheng ZHANG ; Juan ZHANG ; Tianhong ZHANG ; Wenqi ZUO ; Wenyan LI ; Yongyi YUAN ; Jie ZHANG ; Yu ZHAO ; Fang ZHENG ; Yu SUN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(9):798-808
Hearing loss is the most prevalent disabling disease. Cochlear implantation(CI) serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system(Favorable, Marginal, Poor). The consensus focuses on common hereditary non-syndromic hearing loss(such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1) and syndromic hereditary hearing loss(such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome), which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans
;
Cochlear Implantation
;
Prognosis
;
Hearing Loss/surgery*
;
Consensus
;
Connexin 26
;
Mutation
;
Sulfate Transporters
;
Connexins/genetics*
4.Association of Body Mass Index with All-Cause Mortality and Cause-Specific Mortality in Rural China: 10-Year Follow-up of a Population-Based Multicenter Prospective Study.
Juan Juan HUANG ; Yuan Zhi DI ; Ling Yu SHEN ; Jian Guo LIANG ; Jiang DU ; Xue Fang CAO ; Wei Tao DUAN ; Ai Wei HE ; Jun LIANG ; Li Mei ZHU ; Zi Sen LIU ; Fang LIU ; Shu Min YANG ; Zu Hui XU ; Cheng CHEN ; Bin ZHANG ; Jiao Xia YAN ; Yan Chun LIANG ; Rong LIU ; Tao ZHU ; Hong Zhi LI ; Fei SHEN ; Bo Xuan FENG ; Yi Jun HE ; Zi Han LI ; Ya Qi ZHAO ; Tong Lei GUO ; Li Qiong BAI ; Wei LU ; Qi JIN ; Lei GAO ; He Nan XIN
Biomedical and Environmental Sciences 2025;38(10):1179-1193
OBJECTIVE:
This study aimed to explore the association between body mass index (BMI) and mortality based on the 10-year population-based multicenter prospective study.
METHODS:
A general population-based multicenter prospective study was conducted at four sites in rural China between 2013 and 2023. Multivariate Cox proportional hazards models and restricted cubic spline analyses were used to assess the association between BMI and mortality. Stratified analyses were performed based on the individual characteristics of the participants.
RESULTS:
Overall, 19,107 participants with a sum of 163,095 person-years were included and 1,910 participants died. The underweight (< 18.5 kg/m 2) presented an increase in all-cause mortality (adjusted hazards ratio [ aHR] = 2.00, 95% confidence interval [ CI]: 1.66-2.41), while overweight (≥ 24.0 to < 28.0 kg/m 2) and obesity (≥ 28.0 kg/m 2) presented a decrease with an aHR of 0.61 (95% CI: 0.52-0.73) and 0.51 (95% CI: 0.37-0.70), respectively. Overweight ( aHR = 0.76, 95% CI: 0.67-0.86) and mild obesity ( aHR = 0.72, 95% CI: 0.59-0.87) had a positive impact on mortality in people older than 60 years. All-cause mortality decreased rapidly until reaching a BMI of 25.7 kg/m 2 ( aHR = 0.95, 95% CI: 0.92-0.98) and increased slightly above that value, indicating a U-shaped association. The beneficial impact of being overweight on mortality was robust in most subgroups and sensitivity analyses.
CONCLUSION
This study provides additional evidence that overweight and mild obesity may be inversely related to the risk of death in individuals older than 60 years. Therefore, it is essential to consider age differences when formulating health and weight management strategies.
Humans
;
Body Mass Index
;
China/epidemiology*
;
Male
;
Female
;
Middle Aged
;
Prospective Studies
;
Rural Population/statistics & numerical data*
;
Aged
;
Follow-Up Studies
;
Adult
;
Mortality
;
Cause of Death
;
Obesity/mortality*
;
Overweight/mortality*
5.Clinical Dominant Disease of Traditional Chinese Medicine: Rheumatoid Arthritis
Jinping WANG ; Qingwen TAO ; Mei MO ; Zihan WANG ; Nan ZHANG ; Yuan XU ; Xiaoxiao ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):202-210
Rheumatoid arthritis (RA) is an autoimmune disease characterized primarily by erosive arthritis, with a high prevalence and disability rate. Although significant progress has been made in the treatment of RA in recent years, challenges such as suboptimal efficacy, drug resistance, severe side effects, and high costs of long-term treatment remain, especially for patients in the early stages of RA, as well as those with RA complications, comorbidities, and severe conditions. Hosted by the China-Japan Friendship Hospital and organized by the Youth Committee of the China Association of Chinese Medicine, the 27th session of the Clinical Dominant Disease Series (Rheumatoid Arthritis) Youth Salon invited nearly 20 experts and scholars from traditional Chinese medicine (TCM), western medicine, and interdisciplinary fields to actively discuss the clinical needs of modern medicine and the advantageous stages and aspects of TCM in RA. Experts at the salon agreed that TCM has unique advantages in the treatment of RA, especially during the early stage, periods of low to moderate disease activity, remission phase, and in addressing complications and comorbidities. TCM can achieve both prevention and treatment by regulating the immune system and restoring immune homeostasis. The integrated approach of traditional Chinese and western medicine demonstrates significant advantages in active RA, refractory cases, and stages with severe complications, by rapidly controlling disease progression, alleviating symptoms, enhancing the quality of life, and facilitating recovery. Given the frequent occurrence of multiple comorbidities in RA, TCM shows potential in regulating immunity, alleviating symptoms, and improving physical constitution, which provides new insights into the comprehensive treatment of RA with comorbidities. However, high-quality clinical studies on integrated traditional Chinese and western medicine in RA are still lacking. It is necessary to establish large-scale clinical cohorts and biological databases to provide a scientific basis for the development of precision-targeted therapies and clinical treatment protocols. In the future, individualized treatment strategies integrating traditional Chinese and western medicine are expected to become an important direction for improving the quality of life in RA patients.
6.Clinical Dominant Disease of Traditional Chinese Medicine: Rheumatoid Arthritis
Jinping WANG ; Qingwen TAO ; Mei MO ; Zihan WANG ; Nan ZHANG ; Yuan XU ; Xiaoxiao ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):202-210
Rheumatoid arthritis (RA) is an autoimmune disease characterized primarily by erosive arthritis, with a high prevalence and disability rate. Although significant progress has been made in the treatment of RA in recent years, challenges such as suboptimal efficacy, drug resistance, severe side effects, and high costs of long-term treatment remain, especially for patients in the early stages of RA, as well as those with RA complications, comorbidities, and severe conditions. Hosted by the China-Japan Friendship Hospital and organized by the Youth Committee of the China Association of Chinese Medicine, the 27th session of the Clinical Dominant Disease Series (Rheumatoid Arthritis) Youth Salon invited nearly 20 experts and scholars from traditional Chinese medicine (TCM), western medicine, and interdisciplinary fields to actively discuss the clinical needs of modern medicine and the advantageous stages and aspects of TCM in RA. Experts at the salon agreed that TCM has unique advantages in the treatment of RA, especially during the early stage, periods of low to moderate disease activity, remission phase, and in addressing complications and comorbidities. TCM can achieve both prevention and treatment by regulating the immune system and restoring immune homeostasis. The integrated approach of traditional Chinese and western medicine demonstrates significant advantages in active RA, refractory cases, and stages with severe complications, by rapidly controlling disease progression, alleviating symptoms, enhancing the quality of life, and facilitating recovery. Given the frequent occurrence of multiple comorbidities in RA, TCM shows potential in regulating immunity, alleviating symptoms, and improving physical constitution, which provides new insights into the comprehensive treatment of RA with comorbidities. However, high-quality clinical studies on integrated traditional Chinese and western medicine in RA are still lacking. It is necessary to establish large-scale clinical cohorts and biological databases to provide a scientific basis for the development of precision-targeted therapies and clinical treatment protocols. In the future, individualized treatment strategies integrating traditional Chinese and western medicine are expected to become an important direction for improving the quality of life in RA patients.
7.Clinical efficacy of autologous apheresis platelet-rich plasma combined with adjustable titanium plate fixation in the treatment of Rockwood type Ⅲ acromioclavicular joint dislocation.
Wei CAI ; An-Ping WU ; Hai-Tao TAN ; Gao-Bing XU ; Zhuo-Yi FU ; Yong PENG ; Di-Shi GUI ; Qiao-Mei PU
China Journal of Orthopaedics and Traumatology 2025;38(6):587-593
OBJECTIVE:
To explore clinical efficacy of autologous platelet-rich plasma(PRP) in treating Rockwood type Ⅲ acromioclavicular dislocation.
METHODS:
From January 2019 to July 2021, 32 patients with Rockwood type Ⅲ acromioclavicular dislocation were treated with minimally invasive adjustable titanium plate internal fixation, and were divided into PRP group and control group according to whether PRP treatment was performed, with 16 patients in each group. In PRP group, there were 10 males and 6 females, aged from 28 to 47 years old with an average of (36.75±7.14) years old;the time from injury to surgery ranged from 1 to 31 h with an average of (26.13±3.98) h;5 patients on the left side and 11 patients on the right side;PRP was injected once during operation and the 4th and 8th weeks after operation respectively. In control group, there were 8 males and 8 females, aged from 30 to 52 years old with an average of (38.50±5.48) years old; the time from injury to surgery ranged from 1 to 29 h with an average of (25.48±3.11) h;7 patients on the left side and 9 patients on the right side; minimally invasive surgical treatment was performed. Visual analogue scale(VAS) was used to evaluate pain and Constant-Murley score for shoulder joint function was used to evaluate the recovery of shoulder joint movement function before operation and 1, 3, 6, and 12 months after operation respectively.
RESULTS:
All patients were followed up for 12 to 28 months with an average of (18.3±5.2) months. All incisions patients healed well without adverse events such as infection. Postoperative VAS of PRP group at 1, 3, and 6 months were (5.5±1.2), (3.7±1.6), and (2.4±1.2), respectively, while were lower than those of control group (6.6±1.4), (4.9±1.1), and (3.7±1.3), respectively;and had statistical differences between two groups (P<0.05). There was no statistically significant difference in VAS between two groups before operation and 12 months after operation (P>0.05). Postoperative Constant-Murley scores of PRP group at 1, 3, and 6 months were (64.09±11.61), (73.19±12.89), and (82.61±14.81) points, respectively, which were higher than those of control group were (52.32±17.42), (61.65±14.43), and (72.52±11.04) respectively;and the differences were statistically significant (P<0.05). There was no statistically significant difference in Constant-Murley scores at 12 months after operation between two groups (P>0.05). In PRP group, there was no statistically significant difference at 6 months and 12 months after operation (P>0.05), while there were statistically significant differences at the other time points (1 month after operation compared with before operation, 3 months after operation compared with 6 months after operation, and 3 months after operation compared with 1 month after operation) (P<0.05). In control group, there was no statistically significant difference when comparing 1 month and 3 months after operation (P>0.05), while at the other time points (1 month after operation with before operation, 3 months after operation with 6 months after operation, and 6 months after operation with 12 months after operation), the differences were all statistically significant (P<0.05).
CONCLUSION
Adjustable titanium plate fixation combined with postoperative injection of PRP for the treatment of Rockwood type III acromioclavicular joint dislocation has effect of promoting the recovery of shoulder joint function and reducing pain.
Humans
;
Male
;
Female
;
Adult
;
Middle Aged
;
Platelet-Rich Plasma
;
Acromioclavicular Joint/surgery*
;
Bone Plates
;
Titanium
;
Joint Dislocations/therapy*
;
Fracture Fixation, Internal/methods*
8.Non-Down-syndrome-related acute megakaryoblastic leukemia in children: a clinical analysis of 17 cases.
Ding-Ding CUI ; Ye-Qing TAO ; Xiao-Pei JIA ; An-Na LIAN ; Qiu-Xia FAN ; Dao WANG ; Xue-Ju XU ; Guang-Yao SHENG ; Chun-Mei WANG
Chinese Journal of Contemporary Pediatrics 2025;27(9):1113-1118
OBJECTIVES:
To investigate the clinical features and prognosis of children with non-Down-syndrome-related acute megakaryoblastic leukemia (non-DS-AMKL).
METHODS:
A retrospective analysis was conducted on the medical data of 17 children with non-DS-AMKL who were admitted to Children's Hospital of The First Affiliated Hospital of Zhengzhou University from January 2013 to December 2023, and their clinical features, treatment, and prognosis were summarized.
RESULTS:
Among the 17 children with non-DS-AMKL, there were 8 boys and 9 girls. Fourteen patients had an onset age of less than 36 months, with a median age of 21 months (range:13-145 months). Immunophenotyping results showed that 16 children were positive for CD61 and 13 were positive for CD41. The karyotype analysis was performed on 16 children, with normal karyotype in 6 children and abnormal karyotype in 9 children, among whom 5 had complex karyotype and 1 had no mitotic figure. Detected fusion genes included EVI1, NUP98-KDM5A, KDM5A-MIS18BP1, C22orf34-BRD1, WT1, and MLL-AF9. Genetic alterations included TET2, D7S486 deletion (suggesting 7q-), CSF1R deletion, and PIM1. All 17 children received chemotherapy, among whom 16 (94%) achieved complete remission after one course of induction therapy, and 1 child underwent hematopoietic stem cell transplantation (HSCT) and remained alive and disease-free. Of all children, 7 experienced recurrence, among whom 1 child received HSCT and died of graft-versus-host disease. At the last follow-up, six patients remained alive and disease-free.
CONCLUSIONS
Non-DS-AMKL primarily occurs in children between 1 and 3 years of age. The patients with this disorder have a high incidence rate of chromosomal abnormalities, with complex karyotypes in most patients. Some patients harbor fusion genes or gene mutations. Although the initial remission rate is high, the long-term survival rate remains low.
Humans
;
Male
;
Female
;
Leukemia, Megakaryoblastic, Acute/etiology*
;
Child, Preschool
;
Infant
;
Child
;
Retrospective Studies
;
Prognosis
;
Down Syndrome/complications*
9.Construction and performance evaluation of a prediction model for postoperative poor in-hospital prognosis in patients with traumatic brain injury
Tao MEI ; Zheyong JIA ; Lie CHEN ; Peng CAO ; Wei XIAO ; Weiqiang MAO ; Jianwu GONG ; Lixin XU
Chinese Journal of Trauma 2025;41(11):1048-1058
Objective:To construct a prediction model for postoperative poor in-hospital prognosis in patients with traumatic brain injury (TBI) and evaluate its predictive performance.Methods:A retrospective case control study was conducted to analyze the clinical data of 1 120 TBI patients admitted to Changde Hospital Affiliated to Xiangya Medical College of Central South University from May 2019 to December 2024. The patients were divided into the training set ( n=784) and verification set ( n=336) at a ratio of 7∶3. Based on the Glasgow outcome scale-extended (GOS-E) at discharge, the training set was stratified into favorable prognosis group ( n=335, GOS-E 5-8 points) and poor prognosis group ( n=449, GOS-E 1-4 points). The two groups in the training set were compared in terms of general baseline indicators, TBI-related clinical indicators, and admission laboratory blood test results. Univariate analysis and Lasso regression analysis were employed to screen risk factors associated with postoperative poor in-hospital prognosis in TBI patients. Multivariate Logistic regression analysis was used to determine independent risk factors and construct a regression equation. The regression equation was presented using R language to create a visual nomogram for predicting postoperative poor in-hospital prognosis in TBI patients. In both the training set and verification set, the predictive performance of the model was evaluated by calculating the area under the receiver operating characteristic (ROC) curve (AUC), plotting calibration curves, and performing decision curve analysis (DCA). Results:The results of the univariate analysis indicated that the age, Charlson complication index (CCI), time from trauma to admission, time from trauma to operation, cause of injury, abbreviated injury scale (AIS) (head and neck), injury severity score (ISS), admission Glasgow coma scale (GCS), admission pupil responsiveness, multiple craniocerebral injuries, subdural hematoma, intracerebral hematoma, intraventricular hemorrhage, subarachnoid hemorrhage, decompressive craniotomy, intraoperative blood loss, intraoperative blood transfusion, traumatic cerebral infarction, postoperative delayed bleeding, epilepsy seizures, as well as the following admission tested results including red blood cell count, white blood cell count, platelet count, neutrophil percentage, percentage of lymphocytes, albumin, total bilirubin, urea nitrogen, thrombin time (TT), prothrombin time (PT), international standardized ratio (INR), glutamic aminotransferase, alanine aminotransferase, creatinine, and blood glucose were statistically different between the two groups in the training set ( P<0.05). Lasso regression analysis suggested 14 risk factors of age, CCI, cause of injury, head and neck AIS, ISS, admission GCS, admission pupil responsiveness, multiple craniocerebral injuries, subdural hematoma, intracerebral hematoma, intraoperative blood loss, admission platelet count, admission albumin, admission blood glucose for postoperative poor in-hospital prognosis. The results of the multivariate Logistic regression analysis showed that age ( OR=1.02, 95% CI 1.00, 1.03, P<0.01), CCI ( OR=1.46, 95% CI 1.02, 2.09, P<0.05), head and neck AIS ( OR=1.43, 95% CI 1.11, 1.85, P<0.01), ISS ( OR=2.16, 95% CI 1.39, 3.35, P<0.01), admission GCS ( OR=1.59, 95% CI 1.19, 2.13, P<0.01), intracerebral hematoma ( OR=4.41, 95% CI 2.15, 9.44, P<0.01), intraoperative blood loss ( OR=1.05, 95% CI 1.00, 1.09, P<0.05), admission platelet count ( OR=0.98, 95% CI 0.97, 0.99, P<0.01), admission blood glucose ( OR=1.08, 95% CI 1.02, 1.15, P<0.05) could be the main risk factors to construct a prediction model for postoperative poor in-hospital prognosis in TBI patients. Meanwhile, a regression equation was constructed: Logit[ P/(1- P)]=-2.4+ 0.02×"age"+0.38×"CCI"+0.36×"head and neck AIS"+0.77×"ISS"+0.47×"admission GCS"+1.48×"intracerebral hematoma"+0.05×intraoperative blood loss-0.02×admission platelet count+0.08×admission blood glucose. In the training set, the predictive model for poor postoperative in-hospital prognosis in TBI patients achieved an AUC of 0.87 (95% CI 0.84, 0.89), with a Youden′s index of 0.57, sensitivity of 73.70%, and specificity of 83.00%. In the verification set, the model showed an AUC of 0.80 (95% CI 0.76, 0.85), with a Youden′s index of 0.63, sensitivity of 65.20%, and specificity of 77.90%. In the training set, the Brier score for the calibration curve was 0.14 (95% CI 0.13, 0.16). In the verification set, the Brier score for the calibration curve was 0.18 (95% CI 0.15, 0.20). The DCA diagram indicated that the nomogram prediction model provided high clinical net benefit for predicting postoperative poor in-hospital prognosis in TBI patients. Conclusion:The prediction model for postoperative poor in-hospital prognosis in TBI patients, constructed based on age, CCI, head and neck AIS, ISS, admission GCS, intracerebral hematoma, intraoperative blood loss, admission platelet count, and admission blood glucose, exhibits good predictive performance.
10.Clinical and molecular genetic analysis of nine patients with neonatal Dubin-Johnson syndrome
Tao XU ; Dan LI ; Li GUO ; Mei DENG ; Weixia LIN ; Yuanzong SONG
Chinese Journal of Hepatology 2025;33(5):481-488
Objective:Dubin-Johnson syndrome (DJS) is a hereditary liver disease caused by biallelic pathogenic variants in the ABCC2 gene. As a rare disease, the ABCC2 genotype and clinical phenotype characteristics of DJS patients still need to be summarized in depth. Methods:Nine cases diagnosed with DJS and treated in the Department of Pediatrics of the First Affiliated Hospital of Jinan University were collected as the study subjects. Clinical and laboratory data, general information, symptoms, signs, pathological changes, treatment, and prognostic conditions were systematically analyzed. Targeted high-throughput sequencing was used to detect hereditary diseases. The positive results for the family lineage were verified by Sanger sequencing. The pathogenicity of the novel ABCC2 variants was evaluated according to the American College of Medical Genetics and Genomics guidelines and standards. One-way analysis of variance or Kruskal-Wallis test was used to compare the statistical differences between multiple groups of data. Results:Among the nine DJS cases, seven and two were males, and females. All of them had the initial symptom of jaundice (100%), with a median age of onset of 5 (2,15) days. During the course of the disease, seven (7/9) and two (2/9) cases had hepatomegaly and splenomegaly. All of the patients exhibited direct hyperbilirubinemia, concurrently with elevated total bile acids (TBA) and γ-glutamyl transferase (GGT). Serum transaminases (4/9) and alkaline phosphatase levels (3/9) were elevated in some patients. A total of twelve types of ABCC2 variants were detected in nine cases, of which c.2362_2363del (p.Leu788ValfsTer13), c.364C>T (p.Gln122Ter), c.338T>C (p.Leu113Pro) and c.419T>A (p.Ile140Lys) were novel pathogenic/likely pathogenic variants. Jaundice disappeared and alleviated in five cases (5/9) and four cases (4/9), while hepatomegaly improved in five cases (5/9) at the last follow-up at 7.79 (7.0,15.25) months following treatment with drugs such as liver protectives, choleretics, and jaundice-reducing agents. Among them, three cases (3/9) had a normal restored liver size. All patients had varying degrees of improvement in bilirubin, TBA, GGT, and ALP levels. Conclusions:The onset of high GGT cholestatic jaundice is the main clinical manifestation in patients with neonatal DJS. The genetic analysis results showed four novel types of variants, which expanded the ABCC2 gene variation spectrum, providing novel molecular markers for confirming a diagnosis of DJS. The patient's clinical manifestations and laboratory abnormalities improved or disappeared after internal medicine treatment, suggesting that DJS may be a type of genetic disease with a favorable long-term prognosis.

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