Digital intelligence technology is a comprehensive technical system with data as the key element and artificial intelligence as the core driving force. It provides innovative methodological support for addressing core bottlenecks in rare disease etiology research, including sample scarcity, high-dimensional datacomplexity, intricate pathogenic mechanisms, and challenges in causal validation. This paper systematically reviews the application pathways and current implementation of digital intelligence across four major stages of rare disease research, including etiological clue mining, causal inference, mechanism analysis, and clinical translation. Furthermore, it summarizes the technical strengths, existing limitations, and developmental challenges, aiming to inform optimization of the research paradigm and promote the sustainable advancement of rare disease research.

Objective:To analyze the burden and trends of noncommunicable chronic disease(NCD) attributable to metabolic factors in China from 1990 to 2021.Methods:Data from the Global Burden of Diseases(GBD) 2021 database were utilized to describe changes in mortality and disability-adjusted life years(DALYs) of NCD in China from 1990 to 2021. Stratified analyses were conducted by age, sex, sociodemographic index(SDI), and related risk factors. Statistical analyses and predictions were conducted using the age-period-cohort model and the Nordpred model.Results:In 2021, the age-standardized mortality rate and age-standardized DALYs rate of NCD attributable to metabolic factors in China were 227.56 per 100 000 and 4 829.39 per 100 000, respectively. Their average annual percentage changes were -0.76%( P<0.001) and -0.77%( P<0.001). Overall, the burden decreased progressively with higher SDI levels. Analysis using the age-period-cohort model indicated reduced birth cohort and period effects for metabolic factor-attributable NCD, while age effects rose significantly. The minimum relative risk( RR) value was observed in the 15-19 age group( RR=0.01), and the maximum RR value occurred in the 95-99 age group( RR=996.86). The overall rising mortality trend indicated that age effects are the predominant driver at present. Projections estimate that by 2046, deaths from metabolic factor-attributable NCD in China will reach 8 189 563, with an age-standardized mortality rate of 236.95 per 100 000. Conclusions:China continues to face a substantial burden of NCD linked to metabolic factors, with older adults, males, and individuals with hypertension, diabetes, and prediabetes identified as key populations requiring targeted interventions.

Objective:To explore the diagnostic value of digital mammography combined with serum glutathione specific gamma-glutamyl transpeptidase 1(CHAC1)and retinoic acid-induced protein 14(RAI14)in identifying benign and malignant breast masses.Methods:A total of 189 patients with breast masses who were treated at Handan Maternal and Child Health Care Hospital from June 2019 to June 2024 were prospectively selected as the research subjects.According to the results of pathological biopsy,they were divided into benign mass group(128 cases)and malignant mass group(61 cases).All patients underwent digital mammography detection.The levels of serum CHAC1 and RAI14 were detected by enzyme-linked immunosorbent assay(ELISA).The general clinical data of the patients were collected and analyzed.Multivariate logistic regression analysis was used to analyze the factors of influencing benign and malignant nature of breast masses.The receiver operating characteristic(ROC)curve was drawn to analyze the diagnostic value of CHAC1 and RAI14 for the benign and malignant nature of breast masses.The Kappa test was used to assess the consistency of results between each diagnostic method and the pathological detection.Results:For 189 patients with breast masses,digital mammography identified 56 cases of malignant masses and 133 cases of benign masses,and 13 cases of them were misdiagnosis and 18 cases of them were missed diagnosis.It showed a moderate consistency with the results of pathological detection(Kappa=0.617,P<0.05).Compared with the benign mass group,the levels of serum CHAC1 and RAI14 in the malignant mass group were significantly higher,and the differences of them between the two groups were statistically significant(t=12.249,12.512,P<0.05).The age,menopausal time,CHAC1 and RAI14 of the patients were all risk factors that can affect the benign and malignant nature of breast masses(OR=1.368,1.305,1.897,1.995,P<0.05).The area under curve(AUC),sensitivity and specificity of CHAC1 were respectively 0.816(95%CI:0.753～0.868),70.49%and 89.06%in diagnosing the benign and malignant nature of breast masses.These indicators of RAI14 were respectively 0.838(95%CI:0.778～0.888),68.85%and 89.84%in diagnosing the benign and malignant nature.The combined detection of the three methods identified 74 cases of malignant masses and 115 cases of benign masses,with 15 cases of misdiagnosis and 2 cases of missed diagnosis,which showed an extremely high consistency with the results of pathological detection(Kappa=0.805,P<0.001).The sensitivity(96.72%),negative predictive value(98.26%)and accuracy(91.01%)of the combined detection of digital mammography,serum CHAC1 and RAI14 were significantly higher than those of each alone detection of them,and the differences of them were significant(x2=15.310,16.623,15.310,11.690,12.402,11.572,5.276,5.276,4.677,P<0.05).Conclusion:The levels of serum CHAC1 and RAI14 appear increase in malignant breast masses,and digital mammography combined with serum CHAC1 and RAI14 has a certain of identification value for benign and malignant nature of breast masses.

[Purpose]To analyze the incidence and mortality of female breast cancer in Zhejiang cancer registration areas in 2021 and the trends from 2000 to 2021.[Methods]The data of cancer inci-dence,mortality and population data reported by cancer registration areas in Zhejiang Province from 2000 to 2021 were collected.The crude incidence/mortality rates,age-standardized rates ad-justed by Chinese standard population(ASIRC,ASMRC)and world standard population(ASIRW,ASMRW),cumulative rates(0～74 years old),truncated rates(35～64 years old),proportion of fe-male breast cancer and age-specific rate were calculated.The average annual percentage change(AAPC)of female breast cancer incidence and mortality rates in Zhejiang from 2000 to 2021 was calculated using Joinpoint software.[Results]In 2021,there were 7 262 new cases of female breast cancer in Zhejiang cancer registration areas,accounting for 12.70％of all new female can-cer cases.The crude incidence rate,ASIRC and ASIRW were 65.71/105,42.03/105 and 39.22/105,respectively.The cumulative incidence rate(0～74 years old)was 4.26％,and the truncated rate(35～64 years old)was 98.34/105.The ASIRC in urban and rural areas were 43.15/105 and 40.15/105,respectively.There were 992 deaths of female breast cancer,accounting for 6.97％of all female cancer deaths.The crude mortality rate,ASMRC and ASMRW were 8.98/105,4.62/105 and 4.47/105,respectively.The cumulative mortality rate(0～74 years old)was 0.48％,and the truncated rate(35～64 years old)was 8.89/105.The ASMRC in urban and rural areas were 4.79/105 and 4.34/105,respectively.The incidence rate of female breast cancer reached the peak at the age group of 60～64 years old,and the mortality rate reached the peak at the age group of 85 years old and above.From 2000 to 2021,the crude incidence rate,ASIRC and ASIRW of female breast cancer in Zhejiang cancer registration areas showed significant increasing trends(all P＜0.05).The crude mortality rate and ASMRW of female breast cancer also showed significant increasing trends(all P＜0.05).[Conclusion]The incidence rate of female breast cancer in Zhejiang Province was higher than the national average,while the mortality rate was lower than the national average in 2021.Both the incidence and mortality rates showed increasing trends from 2000 to 2021.Fur-thermore,distinct urban-rural disparities existed in both incidence and mortality characteristics.

Objective To analyze the incidence and influencing factors of postoperative malnutrition in children under 5 years old with congenital heart disease.Methods A retrospective analysis was conducted on the clinical data of 103 children under 5 years old with congenital heart disease who underwent open-heart rad-ical surgery at the hospital from August 2019 to December 2020.Age-specific height Z-scores(HAZ),age-spe-cific weight Z-scores(WAZ),and weight-for-height Z-scores(WHZ)were calculated.Malnutrition was de-fined as any Z-score<-2.Based on nutritional status,patients were divided into a malnutrition group and a normal nutrition group.Preoperative differences between the two groups in different age periods were com-pared,and nutritional status was followed up at 1,3,and 6 months postoperatively to analyze the influencing factors for postoperative malnutrition.Results Among 103 pediatric patients,42 had preoperative malnutri-tion,with a malnutrition incidence of 40.8%.The incidence of malnutrition decreased to 24.3%(25/103)six months after surgery.At one month postoperatively,HAZ,WAZ,and WHZ decreased compared with preoper-ative values across different age groups,while they increased at three and six months postoperatively;howev-er,only the WHZ in the toddler group showed a statistically significant difference compared to preoperative values(P<0.05).Multivariate logistic regression analysis indicated that preoperative malnutrition was a risk factor for malnutrition six months after surgery(P<0.05),whereas age stage had no effect on postoperative malnutrition at six months(P>0.05).Conclusion Children with congenital heart disease generally suffer from malnutrition before surgery,and early identification and intervention should be carried out to promote their growth and development.

Objective To analyze the characteristics of real-world adverse drug events(ADEs)of trabectedin based on the FDA Adverse Event Reporting System(FAERS)database in order to provide references for clinical drug safety management.Methods A total of 1 349 trabectedin-related reports were extracted from the FAERS database from Q1 2007 to Q4 2024.Using the MedDRA coding classification system for system organ class(SOC)and preferred term(PT),signal detection was performed through 4 proportional imbalance methods,including reporting odds ratio(ROR)and proportional reporting ratio(PRR).Subgroup analyses by gender,age,and temporal trends were also conducted.Results Hematological and lymphatic system disorders and hepatobiliary system disorders were the primary SOCs involved.High-frequency PTs included neutropenia(123 cases)and anemia(117 cases).Eight potential ADEs that have not been listed in the drug product instruction were identified.The median onset time of ADEs was 21 d,showing an early failure pattern,with differences observed by gender(females more prone to hematological toxicity)and age(elderly more susceptible to febrile neutropenia).Conclusion Trabectedin requires close attention to hematological toxicity,hepatotoxicity,and newly identified multi-system potential risks.Clinically,monitoring should be strengthened based on time windows and population characteristics to optimize drug regimens.Countermeasure It is recommended to strengthen the full cycle monitoring of anti-tumor drugs,standardize the reporting of adverse reactions,and establish a multi-departmental collaborative research platform.

Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans ; Dental Cementum/injuries* ; Consensus ; Diagnosis, Differential ; Cone-Beam Computed Tomography ; Tooth Fractures/therapy*

[Purpose]To analyze the incidence and mortality of female breast cancer in Zhejiang cancer registration areas in 2021 and the trends from 2000 to 2021.[Methods]The data of cancer inci-dence,mortality and population data reported by cancer registration areas in Zhejiang Province from 2000 to 2021 were collected.The crude incidence/mortality rates,age-standardized rates ad-justed by Chinese standard population(ASIRC,ASMRC)and world standard population(ASIRW,ASMRW),cumulative rates(0～74 years old),truncated rates(35～64 years old),proportion of fe-male breast cancer and age-specific rate were calculated.The average annual percentage change(AAPC)of female breast cancer incidence and mortality rates in Zhejiang from 2000 to 2021 was calculated using Joinpoint software.[Results]In 2021,there were 7 262 new cases of female breast cancer in Zhejiang cancer registration areas,accounting for 12.70％of all new female can-cer cases.The crude incidence rate,ASIRC and ASIRW were 65.71/105,42.03/105 and 39.22/105,respectively.The cumulative incidence rate(0～74 years old)was 4.26％,and the truncated rate(35～64 years old)was 98.34/105.The ASIRC in urban and rural areas were 43.15/105 and 40.15/105,respectively.There were 992 deaths of female breast cancer,accounting for 6.97％of all female cancer deaths.The crude mortality rate,ASMRC and ASMRW were 8.98/105,4.62/105 and 4.47/105,respectively.The cumulative mortality rate(0～74 years old)was 0.48％,and the truncated rate(35～64 years old)was 8.89/105.The ASMRC in urban and rural areas were 4.79/105 and 4.34/105,respectively.The incidence rate of female breast cancer reached the peak at the age group of 60～64 years old,and the mortality rate reached the peak at the age group of 85 years old and above.From 2000 to 2021,the crude incidence rate,ASIRC and ASIRW of female breast cancer in Zhejiang cancer registration areas showed significant increasing trends(all P＜0.05).The crude mortality rate and ASMRW of female breast cancer also showed significant increasing trends(all P＜0.05).[Conclusion]The incidence rate of female breast cancer in Zhejiang Province was higher than the national average,while the mortality rate was lower than the national average in 2021.Both the incidence and mortality rates showed increasing trends from 2000 to 2021.Fur-thermore,distinct urban-rural disparities existed in both incidence and mortality characteristics.

Objective:To explore the diagnostic value of digital mammography combined with serum glutathione specific gamma-glutamyl transpeptidase 1(CHAC1)and retinoic acid-induced protein 14(RAI14)in identifying benign and malignant breast masses.Methods:A total of 189 patients with breast masses who were treated at Handan Maternal and Child Health Care Hospital from June 2019 to June 2024 were prospectively selected as the research subjects.According to the results of pathological biopsy,they were divided into benign mass group(128 cases)and malignant mass group(61 cases).All patients underwent digital mammography detection.The levels of serum CHAC1 and RAI14 were detected by enzyme-linked immunosorbent assay(ELISA).The general clinical data of the patients were collected and analyzed.Multivariate logistic regression analysis was used to analyze the factors of influencing benign and malignant nature of breast masses.The receiver operating characteristic(ROC)curve was drawn to analyze the diagnostic value of CHAC1 and RAI14 for the benign and malignant nature of breast masses.The Kappa test was used to assess the consistency of results between each diagnostic method and the pathological detection.Results:For 189 patients with breast masses,digital mammography identified 56 cases of malignant masses and 133 cases of benign masses,and 13 cases of them were misdiagnosis and 18 cases of them were missed diagnosis.It showed a moderate consistency with the results of pathological detection(Kappa=0.617,P<0.05).Compared with the benign mass group,the levels of serum CHAC1 and RAI14 in the malignant mass group were significantly higher,and the differences of them between the two groups were statistically significant(t=12.249,12.512,P<0.05).The age,menopausal time,CHAC1 and RAI14 of the patients were all risk factors that can affect the benign and malignant nature of breast masses(OR=1.368,1.305,1.897,1.995,P<0.05).The area under curve(AUC),sensitivity and specificity of CHAC1 were respectively 0.816(95%CI:0.753～0.868),70.49%and 89.06%in diagnosing the benign and malignant nature of breast masses.These indicators of RAI14 were respectively 0.838(95%CI:0.778～0.888),68.85%and 89.84%in diagnosing the benign and malignant nature.The combined detection of the three methods identified 74 cases of malignant masses and 115 cases of benign masses,with 15 cases of misdiagnosis and 2 cases of missed diagnosis,which showed an extremely high consistency with the results of pathological detection(Kappa=0.805,P<0.001).The sensitivity(96.72%),negative predictive value(98.26%)and accuracy(91.01%)of the combined detection of digital mammography,serum CHAC1 and RAI14 were significantly higher than those of each alone detection of them,and the differences of them were significant(x2=15.310,16.623,15.310,11.690,12.402,11.572,5.276,5.276,4.677,P<0.05).Conclusion:The levels of serum CHAC1 and RAI14 appear increase in malignant breast masses,and digital mammography combined with serum CHAC1 and RAI14 has a certain of identification value for benign and malignant nature of breast masses.

Objective:To analyze the burden and trends of noncommunicable chronic disease(NCD) attributable to metabolic factors in China from 1990 to 2021.Methods:Data from the Global Burden of Diseases(GBD) 2021 database were utilized to describe changes in mortality and disability-adjusted life years(DALYs) of NCD in China from 1990 to 2021. Stratified analyses were conducted by age, sex, sociodemographic index(SDI), and related risk factors. Statistical analyses and predictions were conducted using the age-period-cohort model and the Nordpred model.Results:In 2021, the age-standardized mortality rate and age-standardized DALYs rate of NCD attributable to metabolic factors in China were 227.56 per 100 000 and 4 829.39 per 100 000, respectively. Their average annual percentage changes were -0.76%( P<0.001) and -0.77%( P<0.001). Overall, the burden decreased progressively with higher SDI levels. Analysis using the age-period-cohort model indicated reduced birth cohort and period effects for metabolic factor-attributable NCD, while age effects rose significantly. The minimum relative risk( RR) value was observed in the 15-19 age group( RR=0.01), and the maximum RR value occurred in the 95-99 age group( RR=996.86). The overall rising mortality trend indicated that age effects are the predominant driver at present. Projections estimate that by 2046, deaths from metabolic factor-attributable NCD in China will reach 8 189 563, with an age-standardized mortality rate of 236.95 per 100 000. Conclusions:China continues to face a substantial burden of NCD linked to metabolic factors, with older adults, males, and individuals with hypertension, diabetes, and prediabetes identified as key populations requiring targeted interventions.