1.Construction and application of the "Huaxi Hongyi" large medical model
Rui SHI ; Bing ZHENG ; Xun YAO ; Hao YANG ; Xuchen YANG ; Siyuan ZHANG ; Zhenwu WANG ; Dongfeng LIU ; Jing DONG ; Jiaxi XIE ; Hu MA ; Zhiyang HE ; Cheng JIANG ; Feng QIAO ; Fengming LUO ; Jin HUANG
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(05):587-593
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.
2.TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Hai-Yang ZHANG ; Feng-Yao WU ; Xue-Song LI ; Ping-Hui TU ; Cao-Xu ZHANG ; Rui-Meng YANG ; Ren-Jie CUI ; Chen-Yang WU ; Ya FANG ; Liu YANG ; Huai-Dong SONG ; Shuang-Xia ZHAO
Annals of Laboratory Medicine 2024;44(4):343-353
Background:
Genetic defects in the human thyroid-stimulating hormone (TSH) receptor (TSHR) gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype–phenotype relationships for most TSHR variants associated with CH remain unexplored. We aimed to identify TSHR variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between TSHR genotypes and clinical phenotypes.
Methods:
In total, 367 patients with CH were recruited for TSHR variant screening using whole-exome sequencing. The effects of the variants were evaluated by in-silico programs such as SIFT and polyphen2. Furthermore, these variants were transfected into 293T cells to detect their Gs/cyclic AMP and Gq/11 signaling activity.
Results:
Among the 367 patients with CH, 17 TSHR variants, including three novel variants, were identified in 45 patients, and 18 patients carried biallelic TSHR variants. In vitro experiments showed that 10 variants were associated with Gs/cyclic AMP and Gq/11 signaling pathway impairment to varying degrees. Patients with TSHR biallelic variants had lower serum TSH levels and higher free triiodothyronine and thyroxine levels at diagnosis than those with DUOX2 biallelic variants.
Conclusions
We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.
3.Clinical trial of nintedanib combined with tetrandrine in the treatment of patients with connective tissue disease-related pulmonary interstitial fibrosis
Dong-Ming YANG ; Jian-Jun NIE ; Wei REN ; Rui ZHANG ; Ben-Shang GONG ; Dong-Feng XU
The Chinese Journal of Clinical Pharmacology 2024;40(19):2781-2785
Objective To observe the influence of nintedanib ethanesulfonate soft capsules combined with tetrandrine tablets on pulmonary function and dyspnea symptoms in patients with connective tissue disease-related pulmonary interstitial fibrosis.Methods Patients with connective tissue disease-related pulmonary interstitial fibrosis were divided into treatment group and control group by cohort method.The control group was given basic treatment such as glucocorticoids and immunosuppressants according to the patient's condition;the treatment group was given ethanesulfonate nintedanib soft capsules(100 mg,bid)and tetrandrine tablets(40 mg,tid)on the basis of the control group,and the treatment course was 3 months.The clinical efficacy,severity of dyspnea[modified British Medical Research Council Dyspnea Scale(mMRC)and St.George's Respiratory Questionnaire(SGRQ)],pulmonary function indicators,pulmonary fibrosis score,and blood gas analysis indicators were compared between the two groups,and the safety was assessed.Results A total of 42 cases were included in the treatment group and the control group,respectively.The total effective rates of the treatment group and the control group were 92.86%(39 cases/42 cases)and 76.19%(32 cases/42 cases)respectively(P<0.05).After treatment,the mMRC scores of the treatment group and the control group were(1.43±0.27)and(1.69±0.31)points;the SGRQ scores were(46.51±4.39)and(51.08±4.76)points;the forced expiratory volume in one second(FEV1)values were(64.96±6.55)%and(58.67±5.01)%;the fibrosis scores were(1.12±0.14)and(1.26±0.18)points;the partial pressure of arterial oxygen values were(80.31±7.03)and(75.02±6.94)mmHg.The above indexes of the treatment group were compared with those of the control group,and the differences were statistically significant(all P<0.05).There were no adverse drug reactions in the treatment group,and the main adverse drug reactions in the control group were gastrointestinal discomfort.The total incidence rates of adverse drug reactions in the treatment group and the control group were 0 and 2.38%,respectively(P>0.05).Conclusion Compared with basic treatment,nintedanib ethanesulfonate soft capsules combined with tetrandrine tablets can better improve the pulmonary fibrosis degree and dyspnea degree in patients with connective tissue disease-related pulmonary interstitial fibrosis,and delay the decline of pulmonary function of patients.
4.Development of a High-throughput Sequencing Platform for Detection of Viral Encephalitis Pathogens Based on Amplicon Sequencing
Li Ya ZHANG ; Zhe Wen SU ; Chen Rui WANG ; Yan LI ; Feng Jun ZHANG ; Hui Sheng LIU ; He Dan HU ; Xiao Chong XU ; Yu Jia YIN ; Kai Qi YIN ; Ying HE ; Fan LI ; Hong Shi FU ; Kai NIE ; Dong Guo LIANG ; Yong TAO ; Tao Song XU ; Feng Chao MA ; Yu Huan WANG
Biomedical and Environmental Sciences 2024;37(3):294-302
Objective Viral encephalitis is an infectious disease severely affecting human health.It is caused by a wide variety of viral pathogens,including herpes viruses,flaviviruses,enteroviruses,and other viruses.The laboratory diagnosis of viral encephalitis is a worldwide challenge.Recently,high-throughput sequencing technology has provided new tools for diagnosing central nervous system infections.Thus,In this study,we established a multipathogen detection platform for viral encephalitis based on amplicon sequencing. Methods We designed nine pairs of specific polymerase chain reaction(PCR)primers for the 12 viruses by reviewing the relevant literature.The detection ability of the primers was verified by software simulation and the detection of known positive samples.Amplicon sequencing was used to validate the samples,and consistency was compared with Sanger sequencing. Results The results showed that the target sequences of various pathogens were obtained at a coverage depth level greater than 20×,and the sequence lengths were consistent with the sizes of the predicted amplicons.The sequences were verified using the National Center for Biotechnology Information BLAST,and all results were consistent with the results of Sanger sequencing. Conclusion Amplicon-based high-throughput sequencing technology is feasible as a supplementary method for the pathogenic detection of viral encephalitis.It is also a useful tool for the high-volume screening of clinical samples.
5.The value of coronary artery plaque progression parameters based on coronary CT angiography in predicting prognosis of non-obstructive coronary artery disease
Rui CHEN ; Han JIA ; Changjing FENG ; Siting DONG ; Wangyan LIU ; Shushen LIN ; Xiaomei ZHU ; Yi XU ; Yinsu ZHU
Chinese Journal of Radiology 2024;58(12):1408-1416
Objective:To explore the value of coronary artery plaque progression parameters based on coronary CT angiography (CCTA) in predicting the occurrence of major adverse cardiovascular events (MACE) in patients with non-obstructive coronary artery disease.Methods:The study included clinical, imaging, and prognosis (MACE) parameters of non-obstructive coronary artery disease patients who underwent CCTA at the First Affiliated Hospital of Nanjing Medical University from September 2010 to December 2022. Patients were grouped based on the occurrence of MACE, and differences in clinical data, plaque baseline, and progression parameters between the two groups were compared. Univariate and multivariate Cox regression analyses were employed to identify factors that could effectively predict the occurrence of MACE in patients. Models were constructed using plaque baseline parameters, plaque progression parameters, and a combination of both. The concordance index-time curve, net reclassification improvement and integrated discrimination improvement were used to evaluate the risk stratification ability of the models.Results:A total of 258 patients were included, of whom 62 cases experienced MACE during the follow-up period. In comparison to the MACE(-) group, patients in the MACE(+) group exhibited longer lesion length, greater degree of stenosis, larger plaque total volume, calcified plaque volume, non-calcified plaque volume, fibrous plaque volume, total plaque burden, lipid-rich plaque burden, higher peri-coronary adipose tissue attenuation index (FAI), and annual change of diameter stenosis(ΔDS/y). There were also more cases of coronary artery disease reporting and data system upgrades and non-obstructive progression to obstructive status ( P<0.05). Multivariate Cox analysis revealed that FAI, ΔDS/y, and non-obstructive progression to obstructive status were independent predictors of MACE occurrence. Concordance index-time curve results indicated that the combined model had a better predictive efficacy for MACE in patients with non-obstructive coronary artery disease compared to models based on plaque baseline parameters and plaque progression parameters. Conclusion:The plaque progression parameters and FAI based on CCTA have the potential to predict the high-risk population for MACE in patients with non-obstructive coronary artery disease, demonstrating good risk stratification value.
6.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
7.Clinical characteristics and antimicrobial resistance of Gram-negative bac-terial infection in elderly patients with peritoneal dialysis-related peritonitis
Chinese Journal of Infection Control 2024;23(9):1084-1090
Objective To retrospectively analyze the distribution and antimicrobial resistance changes of Gram-negative(G-)bacteria,as well as related clinical characteristics of peritoneal dialysis-related peritonitis(PDRP)in elderly patients,provide reference for clinical diagnosis and treatment.Methods Elderly PDRP patients in three tertiary first-class hospitals in a city from January 2015 to December 2022 were analyzed,distribution and antimicro-bial resistance of G-bacterial PDRP pathogens,as well as incidence,clinical characteristics and prognosis of PDRP were analyzed.Results A total of 247 elderly peritoneal dialysis(PD)patients developed 406 episodes of PDRP.The overall incidence and incidence of Gram-positive(G+)bacterial PDRP in elderly PD patients showed a down-ward trend year by year(both P<0.05),while the incidence of G-bacterial PDRP showed no significant down-ward trend(P>0.05).A total of 96 cases(106 episodes)of G-bacterial PDRP occurred in elderly PD patients,with Escherichia coli being the predominant strain(38.68%).Compared with 2015-2018,there was no significant change in the susceptibility rates of G-bacteria isolated from elderly PDRP patients to piperacillin/tazobactam,cefo-perazone/sulbactam,imipenem,meropenem,and amikacin in 2019-2022,all of which were highly susceptible.The resistance rate to cefotaxime increased(P=0.033).Multivariate logistic regression analysis showed that high serum C-reactive protein,high white blood cell count in PD fluid on the first day,and long time for white blood cell count in PD fluid to return to normal were risk factors for G-bacterial PDRP in elderly PD patients(all P<0.05).The cure rate of elderly PDRP patients in G-bacterial group(83.96%)was lower than that of the G+bacterial group(93.01%),with statistically difference(P<0.05).Conclusion There is no obvious downward trend in the incidence of G-bacterial PDRP in elderly PD patients,aminoglycosides can be used as the first choice for empirical treatment of G-bacterial PDRP.
8.Clinical value of high frequency ultrasound in the diagnosis of hip joint involvement in patients with ankylosing spondylitis
Guo-Yan XUE ; Ying-Qi LI ; Rui WANG ; Wen-Xing WANG ; Zhuang DONG ; Jian-Feng DING
China Journal of Orthopaedics and Traumatology 2024;37(4):374-380
Objective To analyze the correlation between hip joint musculoskeletal ultrasound score and ankylosing spondylitis(AS)disease activity,as well as to investigate the value of high frequency ultrasound in the assessment of hip joint involvement in AS.Methods The clinical data of 244 patients with AS who were treated in the rheumatology department of from March 2019 to March 2022 were retrospectively analyzed.Among them,there 174 males and 70 females,aged from 19 to 58 years old with an average of(34.22±9.49)years old;the disease duration of AS patients ranged from 8 months to 26 years,with an average of(13.68±4.04)years.The 244 patients were divided into disease group(83 cases)and control group(161 cases)based in the presence of hip joint involuement.According to the the disease activity,patients in the disease group were further categorezed into active phase(45 cases)and stable phase(38 cases).The ultrasound scores of patients in the active and stable phases of the disease group and the control group were compared.Relevant factors of hip joint involvement in AS patients were analyzed,and analyze the correlation between ultrasound score and Bath ankylosing spondylitis disease activity score index(BASD AI),Bath ankylosing spondylitis functional index(BASFI),visual analogue score of pain(VAS),C-reactive protein(CRP),erythrocyte sedimentation rate(ESR),and the correlation between hip joint capsule score and tendon attach-ment end score and BASDAI,BASFI,VAS,CRP and ESR.Results The hip joint capsule score(3.06±1.12),femoral head score(1.45±0.43),tendon attachment end score(3.28±1.30)and total ultrasound score(6.65±2.31)of the disease group were higher than those of the control group(1.51±0.48)、(0.66±0.27)、(1.61±0.53)、(3.81±1.44)scores(P<0.05).Multifactor Logstic re-gression analysis showed that the course of disease,hip joint capsule score and total ultrasound score were independent risk factors for hip involvement in AS patients.The hip capsule score(3.65±1.22)and total ultrasound score(8.28±2.33)in the ac-tive phase of the disease group were higher than those in the stable phase(2.48±1.04)、(6.82±1.96)scores(P<0.05).The hip joint capsule score and total ultrasonic score of AS patients were positively correlated with BASDAI,BASFI,VAS,CRP,and ESR(P<0.05,P<0.01).The score of tendon attachment end was positively correlated with CRP(P<0.05).The score of joint capsule effusion in AS patients was positively correlated with BASDAI,BASFI and VAS(P<0.05,P<0.01).The synovial blood flow score was positively correlated with BASDAI,VAS,CRP and ESR(P<0.05,P<0.01).The synovial thickening score was positively correlated with BASDAI,BASFI,VAS,CRP and ESR(P<0.05,P<0.01).There was no correlation between the score of tendon attachment end and BASDAI,BASFI,VAS,CRP and ESR.Conclusion There is a correlation between hip joint ul-trasonic score of hip joint and clinical indexes in AS patients.Hip joint capsule score and total ultrasonic score were indepen-dent risk factors for hip involvement in AS patients.High frequency ultrasound exhibits clinical value in the diagnosis of hip joint involvement in AS patients.
9.FAN Rui-Qiang's Experience in Differentiating and Treating Urticaria
Jin-Feng AI ; Dong-Jun ZHONG ; Xu KANG ; Rui-Qiang FAN
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(6):1607-1611
Urticaria is a common allergic skin disease.Professor FAN Rui-Qiang believes that the main pathogenesis of urticaria is due to endowment intolerance,and wind-pathogen is the main pathogenic factor.The patients of Lingnan area are prone to be attacked by dampness interweaved with heat.The common syndrome patterns of urticaria are wind-damp heat syndrome,spleen deficiency and dampness accumulation syndrome,and disharmony between nutritive qi and defensive qi syndrome.For the treatment of urticaria by stages,the differentiation of deficiency and excess is stressed.Acute urticaria usually manifests as excess syndrome,and chronic urticaria often manifests as deficiency syndrome or deficiency interweaved with excess syndrome.For the treatment of urticaria patients with excess syndrome,therapies of clearing heat and removing dampness,and dispelling wind and relieving itching are recommended,and the modified prescription of Soufeng Lishi Decoction is usually adopted.For the treatment of urticaria patients with deficiency interweaved with excess syndrome,simultaneous treatment of symptoms and root causes should be performed,therapies of invigorating spleen,resolving dampness and relieving itching are recommended,and the modified prescription of Duopi Decoction is adopted.For the treatment of urticaria patients with deficiency syndrome,therapies of regulating nutritive qi and defensive qi,and expelling wind to relieve itching are recommended,and the modified prescription of Yupingfeng Powder plus Guizhi Decoction is adopted.The high-frequency Chinese medicinals for the treatment of urticaria treated by Professor FAN Rui-Qiang are Saposhnikoviae Radix,Cynanchi Paniculati Radix et Rhizoma,Schizonepetae Spica,Glycyrrhizae Radix et Rhizoma,Albiziae Cortex,Artemisiae Scopariae Herba,Paeoniae Radix Alba,Forsythiae Fructus,Tribuli Fructus,Houttuyniae Herba,Rehmanniae Radix,Dictamni Cortex,Atractylodis Rhizoma,Poria,and Astragali Radix.Professor FAN Rui-Qiang's clinical medication is flexible,and aims to reduce recurrence and improve the quality of life of urticaria patients.
10.Research progress on the relation between gut microbiome-gut-brain axis and post-stroke cognitive impairment
Zhuan LYU ; Ya-Min WANG ; Rui-Dong LIU ; Kai-Qi SU ; Ming-Li WU ; Ming ZHANG ; Jing GAO ; Xiao-Dong FENG
Medical Journal of Chinese People's Liberation Army 2024;49(9):1073-1079
Post-stroke cognitive impairment(PSCI)is a prevalent functional impairments following stroke that seriously affects patients'quality of life and daily activities.Studies indicate a close relationship between intestinal microflora dysbiosis and central nervous system diseases.Intestinal microflora profoundly impacts on human physiological health,contributing to the stability of nervous,metabolic and immune systems through regulation of the gut-brain axis.An increasing number of studies confirmed the important role of the gut microbiome-gut-brain axis in the occurrence and development of stroke and its associated PSCI,and regulation of microbiome-gut-brain could be potential target to treatment of PSCI.This review summarizes research progress on gut microbiome-gut-brain axis and PSCI to provide a reference for exploration of related mechanisms and clinical prevention and treatment strategies.

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