Rare diseases pose significant diagnostic and therapeutic challenges,carrying a high disease burden,their management critically reflects a nation's public health resilience.Currently,China faces key challenges such as scarce treatments,fragmented services,and low drug accessibility in rare disease care,which urgently require systemic solutions.Digital-intelligent technology as a key breakthrough are expected to resolve the challenges in this field.Although its application in the field of rare diseases is gradually expanding,there is a lack of systematic compilation of studies to elucidate how to precisely enhance the precision,synergy and sustainability of diagnosis and treatment.The key challenges in rare disease care concentrate in four areas:inefficiency in prenatal screening,uneven distribution of medical resources,low efficiency in social organization collaboration,and ineffective information dissemination.The"4C"strategy,based on digital-intelligent technology,can address these issues:①coordination,boost prenatal screening awareness and capacity via digital-intelligent platforms to strengthen prevention;②cooperation,deepen collaboration within specialist networks,empowering institutions to enhance diagnostic capacity;③co-creation,empower support organizations to optimize resources,efficiency;④cognition,minimize information dissipation through efficient platforms,improving patient and family quality of life.This establishes an integrated digital-intelligent rare disease model encompassing"screening-diagnosis-treatment-care".

Objective To study the distribution characteristics of TCM constitutions in the middle-aged and elderly Mongolian population undergoing physical examinations in Inner Mongolia;To analyze the correlation with related risk factors.Methods Health information and related risk factors(including BMI index,lifestyle habits,dietary habits and exercise status)of middle-aged and elderly Mongolian people who visited the physical examination departments of Inner Mongolia Autonomous Region Traditional Chinese Medicine Hospital and Tongliao City Traditional Chinese Medicine Hospital from March 2024 to April 2024 were collected.A total of 213 Mongolian people were surveyed,including 65 people who have lived in Hohhot for more than 2 years and 148 people who have lived in Tongliao for more than 2 years.Through investigation,research and analysis,the distribution characteristics of TCM constitutions in the population and its correlation with related risk factors were observed.Results Constitution distribution:101 people(47.41%)had a moderate constitution.Among the biased constitutions,the phlegm dampness constitution had the highest number of people(64 people,30.05%),with the blood deficiency constitution having the lowest number of people(2 people,0.94%).In the investigation of related risk factors,there was a significant correlation(P<0.01)between phlegm dampness and dietary habits and reduced exercise volume.Moreover,individuals with this constitution tend to have good sleep,reduced physical activity,faster eating and a diet primarily consisting of high-calorie foods(P<0.05).Conclusion The TCM constitution of the Mongolian population in Inner Mongolia is mostly composed of moderate constitution,while the biased constitution is mostly composed of phlegm dampness constitution,which is mainly related to dietary habits and reduced exercise volume.

Objective:To investigate the effects of preoperative enteral nutrition on nutrition-related complications and gastrointestinal function in esophageal cancer patients by administering EN before surgery.Methods:A total of 215 patients who underwent thoracoscopic esophagectomy at Nanjing Hospital of Traditional Chinese Medicine between January 2018 and December 2020 were retrospectively analyzed in this study. Among them, 145 patients received enteral nutrition preconditioning, while 70 patients received traditional nutritional support. The nutritional risk was assessed according to the Nutritional Risk Screening 2002 (NRS2002), and the patients were categorized into non-nutritional risk group (NRS2002<3) and nutritional risk group (NRS2002≥3). Patients in the traditional nutritional support group with NRS2002<3 were provided with a regular diet three days prior to surgery, whereas those with NRS2002≥3 received intravenous fat emulsion amino acid glucose for nutritional support. In the enteral nutrition preconditioning group, patients with NRS2002<3 received 500 mL/d of enteral nutrition suspension orally in addition to their regular diet for 3 days preoperatively; those with NRS2002≥3 received received 1000 mL/d of enteral nutrition suspension orally or via gastric tube. Postoperative hospital stay, time to gas passage and defecation, hospital expenses, gastrointestinal dysfunction incidence including diarrhea, abdominal distension and constipation, postoperative routine blood indicators, anastomotic fistula occurrence as well as infectious complications such as pneumonia and wound infection were compared between groups. Measurement data with normal distribution was expressed as Mean±SD, independent sample t-test was used on comparison between groups. Counting data was expressed as case(%), χ2 test was used on comparison between groups, P<0.05 was considered as statistically significant. Results:The incidence of anastomotic leakage and infectious complications in the enteral nutrition pre-adaptation group was 4.83% (7/145) and 4.83% (7/145), respectively, showing no statistically significant differences compared to the traditional nutrition support group [2.86% (2/70) and 8.57% (6/70)] ( χ2=0.46 and 1.16, P=0.499 and 0.280, respectively). The incidences of gastrointestinal dysfunction and overall complications in the enteral nutrition pre-adaptation group were 5.52% (8/145) and 13.10% (19/145), respectively, which were significantly lower than those in the traditional nutrition support group [37.14% (26/70) and 45.71% (32/70)] ( χ2=35.47 and 27.75, both P<0.001). Postoperative outcomes in the enteral nutrition pre-adaptation group, including hospital stay (14.05±3.75 days), time to first flatus (25.75±5.03 hours), time to first defecation (49.25±5.98 hours), and hospitalization costs (85,200±13,500 CNY), were significantly better than those in the traditional nutrition support group [(16.46±4.79 days, 31.53±6.55 hours, 63.45±11.43 hours, and 93,500±20,100 CNY)] ( t=3.70, 6.52, 9.77, and 3.17, all P<0.001). No significant differences were observed in routine postoperative blood tests between the two groups (all P>0.05). Stratified analysis revealed that among patients with preoperative nutritional risk, the enteral nutrition pre-adaptation group demonstrated superior outcomes in hospitalization costs (82,300±11,000 CNY), time to first flatus (26.17±5.69 hours), time to first defecation (50.31±5.59 hours), overall complication rate (15.79%), and gastrointestinal dysfunction rate (7.89%) compared to the traditional nutrition support group [100,800±28,800 CNY, 31.42±6.29 hours, 60.80±9.89 hours, 54.55%, and 40.91%] ( t=2.89, P=0.008; t=3.32, P=0.002; t=4.57, P<0.001; χ2=9.97, P=0.002; χ2=9.49, P=0.002). Similarly, among patients without preoperative nutritional risk, the enteral nutrition pre-adaptation group showed better results in hospital stay (13.69±3.83 days), time to first flatus (25.60±4.80 hours), time to first defecation (48.87±6.10 hours), overall complication rate (12.15%), and gastrointestinal dysfunction rate (4.67%) compared to the traditional nutrition support group [16.60±4.36 days, 31.58±6.73 hours, 64.67±11.98 hours, 41.67%, and 35.42%] ( t=4.19, t=5.56, t=8.65, χ2=17.23, χ2=25.72, all P<0.001). Conclusion:Enteral nutrition pre-adaptation positively impacts post-esophagectomy nutrition-related complications and gastrointestinal dysfunction.nutrtional support before surgery can't be neglected.

BACKGROUND: Urolithiasis is a widespread disease with a high prevalence worldwide. This study aims to evaluate the disease burden of urolithiasis and its trends from 1990 to 2021 globally, based on the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 database. METHODS: The numbers and age-standardized rates (ASRs) of incidence, disability-adjusted life years (DALYs), and mortality of urolithiasis were extracted from GBD 2021 to represent the disease burden. Joinpoint regression analyses were conducted to assess the temporal trends in the burden of urolithiasis. The male-to-female ASR ratio indices were used to evaluate sex disparities. Additionally, we explored the relationship between the ASR ratio and the sociodemographic index (SDI). RESULTS: The total numbers of incidence, DALY, and mortality of urolithiasis were 105,983,780 cases (95% uncertainty interval [UI] = 88,349,356-128,645,155 cases), 693,444 cases (95% UI = 567,765-850,490 cases), and 17,672 cases (95% UI = 13,932-21,241 cases), respectively, in 2021. There is an increasing trend in the number of these measures globally, whereas the ASRs have decreased over the past 30 years. The age-standardized incidence rate (ASIR) and age-standardized mortality rate (ASMR) were significantly higher in males than in females in 2021. The sex disparities in the age-standardized DALY rate (ASDR) and ASMR of urolithiasis were negatively correlated with the SDI. In 2021, the ASIR of urolithiasis was 964.70 (95% UI = 801.26-1175.09) per 100,000 people in China, which is much lower than the global average (1242.84 [95% UI = 1034.94-1506.99] per 100,000 people). Compared with the global average, a more pronounced decline in ASIR was observed in China from 1793.16 (1446.0-2235.14) in 1990 to 964.70 (801.26-1175.09) per 100,000 people in 2021. CONCLUSIONS Urolithiasis poses a significant healthcare burden worldwide. More robust global and national strategies are warranted to address the prevention and treatment, especially in low SDI countries and regions.
Humans ; Urolithiasis/mortality* ; Male ; Female ; Incidence ; Global Burden of Disease ; Disability-Adjusted Life Years ; Adult ; Middle Aged ; Risk Factors ; Sex Factors

Objective To explore the mediating role of intolerance of uncertainty(IU)and moderating role of the negative emotion differentiation in the influence of perceived stress on anxiety among college students from a cognitive perspective.Methods A total of 271 participants were surveyed using the perceived stress scale,intolerance of uncertainty scale,depression anxiety and stress scale(Chinese version),and the test on negative emotional differentiation.SPSS 22.0 was used to perform descriptive statistics and correlation analyses and to test the moderated mediation model.Results Perceived stress affected anxiety and IU played a mediating role-perceived stress could affect anxiety through influencing IU.At the same time,the influence of IU on anxiety could be adjusted through the negative emotion differentiation.The higher the degree of negative emotion differentiation,the lower the degree of anxiety increase(β=0.17,t=5.70,P＜0.01).Conclusion It may be effective to develop training programs to reduce anxiety by regulating perceived stress,increasing acceptance of uncertainty,and improving the negative emotion differentiation,which can help individuals reduce anxiety by perceiving and adjusting anxiety-related emotional or cognitive factors in a timely manner.

Objective:To evaluate the therapeutic effectiveness of adult patients with Kashin-Beck disease (KBD) in Gansu Province, and provide guidance for rational and effective treatment of KBD patients.Methods:The KBD patients who participated in the "2021 Basic Public Health Service Subsidy Key Endemic Disease Prevention and Control Project" in Gansu Province were selected as the research subjects. Gender, age, clinical grading characteristics, and treatment plan selection of all subjects were analyzed, and the treatment effectiveness of KBD patients in different regions was evaluated.Results:A total of 6 711 KBD patients were included in the treatment program, including 3 139 males (46.8%) and 3 572 females (53.2%), 3 157 cases (47.0%) of patients aged 60 and 3 554 cases (53.0%) over 60 years old. There were 3 921, 2 166, and 624 patients with grades Ⅰ, Ⅱ, and Ⅲ, respectively, accounting for 58.4%, 32.3%, and 9.3%, respectively. The gender, age composition, and clinical grading among KBD patients included in different regions were compared, and the differences were statistically significant (χ 2 = 194.34, 47.44, 408.61, P < 0.001). In the distribution of treatment schemes, the number of patients who selected "drug treatment", "drug treatment combined with physical therapy", "drug treatment combined with acupuncture and moxibustion/massage", "drug treatment combined with acupuncture and moxibustion/massage combined with physical therapy", and "other treatment schemes" were 4 084 (60.9%), 726 (10.8%), 672 (10.0%), 443 (6.6%), and 786 (11.7%), respectively. The distribution of treatment plans in different regions was compared, and the difference was statistically significant (χ 2 = 1 088.38, P < 0.001). The total effective rate of KBD patients was 84.5% (5 668/6 711). The total effective rates of KBD patients with different clinical grades were ranked from high to low as grade Ⅲ (87.3%, 545/624), grade Ⅱ (86.4%, 1 871/2 166), and grade Ⅰ (82.9%, 3 252/3 921). The total effective rate of KBD patients with different treatment schemes from high to low was "drug treatment combined with acupuncture and moxibustion/massage combined with physical therapy" (91.0%, 403/443), "drug treatment combined with physical therapy" (87.1%, 632/726), "drug treatment" (86.7%, 3 539/4 084), "drug treatment combined with acupuncture and moxibustion/massage" (82.3%, 553/672), and "other treatment schemes" (68.8%, 541/786). The total effective rate of KBD patients in different regions, from high to low, was as follows: Linxia Hui Autonomous Prefecture (100%, 144/144), Qingyang City (88.7%, 3 562/4 017), Pingliang City (85.0%, 1 327/1 562), Gannan Tibetan Autonomous Prefecture (83.9%, 78/93), Dingxi City (70.9%, 151/213), Tianshui City (62.5%, 125/200), and Longnan City (58.3%, 281/482). The total effective rate of KBD patients in different clinical grades, treatment schemes, and regions was compared, and the differences were statistically significant (χ 2 = 16.95, 181.72, 435.80, P < 0.001). Conclusions:The overall effective rate of treatment for KBD patients in Gansu Province is relatively high, but there are significant differences in therapeutic outcomes among cities (prefectures); it is related to the treatment scheme and the clinical grading of patients. The scheme of "drug treatment combined with acupuncture and moxibustion/massage combined with physical therapy" has better efficacy.

Objective:To explore the efficacy and its related factors of rituximab (RTX) in the treatment of children with frequently relapsing nephrotic syndrome/steroid-dependent nephrotic syndrome (FRNS/SDNS).Methods:It was a single-center retrospective study. The clinical data of FRNS/SDNS children first treated with RTX in the First Affiliated Hospital of Sun Yat-sen University from November 1, 2016 to September 1, 2023 were collected. The number of relapse within 1 year before and after RTX treatment, the time to first relapse after RTX treatment, and the time to B-cell reconstitution were analyzed. At the first treatment, a single dose of RTX was given at 375 mg/m 2, with a maximum dose of 500 mg, once a week, for 1 to 4 doses. The count of CD19 + lymphocytes in the peripheral blood of the children was continuously monitored. If B-cell reconstruction was performed, the decision on whether to proceed to the next course of RTX treatment was made based on clinical manifestations. Kaplan-Meier method was used to analyze relapse-free survival rate after receiving RTX. Cox proportional hazards regression model was used to analyze the related factors of relapse after RTX treatment. Results:A total of 98 FRNS/SDNS children receiving RTX treatment were enrolled, including 75 males (76.5%). The age at onset was 4.0 (1.9, 7.1) years and age of receiving RTX was 11.3 (8.5, 13.5) years. There were 90 children (91.8%) achieving complete remission, while 8 patients (8.2%) did not respond to RTX treatment, and 3 patients (3.1%) progressed to end-stage kidney disease after receiving RTX. The relapse-free survival rates at 6 months and 1 year after RTX treatment were 83.3% (75/90) and 57.9% (22/38), respectively. The frequency of relapse 1 year after RTX treatment decreased compared to 1 year before RTX treatment ( Z=-7.398, P<0.001). Compared with children without relapse during the period of B-cell depletion, relapsed children had a higher number of relapse within one year after RTX treatment ( Z=5.246, P<0.001). The time to first relapse after RTX treatment was 8.3 (4.6, 13.9) months in 51 relapse patients. Compared with children receiving 1 dose of RTX in the first course, those receiving 2 or more doses had a longer time to the first relapse ( Z=2.983, P=0.003). There was no statistically significant difference in time to the first relapse between children who received mycophenolate mofetil therapy after RTX treatment and those who didn't ( P>0.05). The reconstruction time of B cells after the first course of RTX was 6.9 (5.3, 9.0) months. Compared to children receiving one dose of RTX in the first course, those receiving two or more doses had a longer B-cell reconstitution time ( Z=2.739, P=0.006). There was no statistically significant difference in B-cell reconstitution time between children who received mycophenolate mofetil therapy after RTX treatment and those who didn't ( P>0.05). Univariate Cox regression analysis showed that recurrence after calcineurin inhibitor (CNI) treatment before RTX treatment and the number of recurrence in one year before RTX treatment were correlated factors of recurrence after RTX treatment (both P<0.05). Multivariate Cox regression analysis showed that recurrence after CNI treatment before RTX treatment was an independent correlated factor of relapse after RTX therapy ( HR=3.496, 95% CI 1.245-9.818, P=0.018). Infusion reactions occurred in 10 patients (10.2%) and infections were observed in 24 patients (24.5%) during B cell depletion. No serious adverse events occurred. Conclusions:RTX is well tolerated and effective in treating FRNS/SDNS. Recurrence after CNI treatment before RTX treatment may be an independent related factor of relapse after RTX treatment.

In November 23, 2023, a patient with 9 digits traumatic crush injury by machine compression was emergently admitted to the Department of Hand and Microsurgery, Sichuan Modern Hospital. Emergency procedures included amputation the distal stumps and replantation of proximal phalanges of left ring and little fingers. Wounds in both hands were temporarily covered with bone cement. On December 4, 2023, reconstruction of 5 digits were performed. Digital defects were: Type Ⅲ defects of left index and middle fingers and right thumb and index fingers and Type IV defect of right middle finger. All 5 reconstructed digits survived. Subsequent refinements yielded favourable outcomes and all donor toes were preserved completely. At the 14-month follow-up, the reconstructed digits exhibited satisfactory appearance and length without difficulties in daily life and at work.

Rare diseases pose significant diagnostic and therapeutic challenges,carrying a high disease burden,their management critically reflects a nation's public health resilience.Currently,China faces key challenges such as scarce treatments,fragmented services,and low drug accessibility in rare disease care,which urgently require systemic solutions.Digital-intelligent technology as a key breakthrough are expected to resolve the challenges in this field.Although its application in the field of rare diseases is gradually expanding,there is a lack of systematic compilation of studies to elucidate how to precisely enhance the precision,synergy and sustainability of diagnosis and treatment.The key challenges in rare disease care concentrate in four areas:inefficiency in prenatal screening,uneven distribution of medical resources,low efficiency in social organization collaboration,and ineffective information dissemination.The"4C"strategy,based on digital-intelligent technology,can address these issues:①coordination,boost prenatal screening awareness and capacity via digital-intelligent platforms to strengthen prevention;②cooperation,deepen collaboration within specialist networks,empowering institutions to enhance diagnostic capacity;③co-creation,empower support organizations to optimize resources,efficiency;④cognition,minimize information dissipation through efficient platforms,improving patient and family quality of life.This establishes an integrated digital-intelligent rare disease model encompassing"screening-diagnosis-treatment-care".

Rare diseases are a collective term for diseases with extremely low prevalence and incidence rates.Up to now,China has released two lists identifying a total of 207 rare diseases.Given that most rare diseases do not have drugs with corresponding indications,physicians frequently resort to using off-label drugs when treating patients with rare diseases.However,there is currently no systematic guideline or expert consensus for the use of off-label medications in China.To comprehensively collect existing evidence of off-label drug use for rare diseases,fully analyze and evaluate the rationality of off-label drug use for rare diseases,and standardize the management of off-label drug use for rare diseases,the Rare Disease Branch of Beijing Medical Association,Chinese Pharmaceutical Association,Beijing Pharmaceutical Association,and the School of Public Health,Peking University have jointly initiated the drafting of the Expert Consensus on Off-label Use of Drugs for Rare Diseases.This consensus refer to the WHO Handbook for Guideline Development,the Guidelines for Developing/Revising Clinical Diagnostic and Treatment Guidelines in China(2022 Edition),the AGREE Ⅱ and the STAR tools.This protocol outlines the background and purpose of consensus,as well as the comprehensive framework for consensus development,encompassing panel formation,clinical issue identification,evidence retrieval,data extraction,and evidence-based recommendation formulation.