Since its establishment in 2016, the National Rare Diseases Registry System of China (NRDRS) has accumulated valuable case data and bio-specimen for basic and clinical research on rare diseases in China. However, the emerging challenges in clinical diagnosis and treatment of rare diseases make it unable for data and resource platform to fully meet the diversified needs. Under this backdrop, we have developed a protocol to optimize and upgrade the system based on the core functions of the NRDRS platform. The goal is to leverage intelligent digital technologies to transform NRDRS into a new platform integrating multimodal data and auxiliary diagnostic and treatment functions. It is specified as the development and construction of "one platform and four intelligent tools." Currently, we have upgraded and developed NRDRS platform, intelligent tool for genotype-phenotype analysis of rare diseases, AI-assisted diagnostic tool for rare diseases, remote multidisciplinary diagnosis and teaching tool for rare diseases, drug screening and validation tool for rare diseases. The next step will focus on the promotion of the application of these tools in clinical settings in order to address the issue of severe imbalance in the allocation of resources for the diagnosis and treatment of rare diseases. This article provides an overview of the digital and intelligent upgrades of the NRDRS, the trials in applications in clinical settings, and direction in the future.

Autoimmune uveitis is a blinding intraocular inflammation primarily caused by immune dysregulation mediated by CD4+ T cells. CD4+ T cells differentiate into various functional subsets, including Th1, Th2, Th17, and Treg cells. These subsets participate in immune responses and mediate the initiation and resolution of inflammation by secreting different cytokines. This article primarily focuses on the functional characteristics and interplay network of Th1/Th2 and Th17/Treg cells, along with the specific effects of their key secreted cytokines(e.g., IFN-γ, TNF-α, IL-17, IL-10, TGF-β)in driving or suppressing ocular inflammation. The goal is to clarify the fundamental pathogenesis of this disease from the perspective of immune balance. Furthermore, this work explores potential therapeutic targets based on restoring the balance between Th1/Th2 and Th17/Treg, such as modulating the differentiation of specific subsets, blocking key pro-inflammatory cytokines, or enhancing anti-inflammatory functions. This investigation aims to provide a scientific rationale and guidance for optimizing existing diagnostic and therapeutic strategies, as well as developing new immunotherapies(e.g., biological agents, cell therapies).

Soil cadmium pollution can adversely affect the cultivation of the ornamental plant, Coleus scutellarioides. Upon cadmium contamination of the soil, the growth of C. scutellarioides is impeded, and it may even succumb to the toxic accumulation of cadmium. In this study, we investigated the effects of arbuscular mycorrhizal fungi (AMF) on the adaptation of C. scutellarioides to cadmium stress, by measuring the physiological metabolism and the degree of root damage of C. scutellarioides, with Aspergillus oryzae as the test fungi. The results indicated that cadmium stress increased the activity of superoxide dismutase (SOD), peroxidase (POD), and catalase (CAT), and the content of malondialdehyde (MDA) and proline (Pro) within the cells of C. scutellarioides, but inhibited mycorrhizal infestation rate, root vigour and growth rate to a great degree. With the same cadmium concentration, the inoculation of AMF significantly improved the physiological indexes of C. scutellarioides. The maximum decrease of MDA content was 42.16%, and the content of secondary metabolites rosemarinic acid and anthocyanosides could be increased by up to 27.43% and 25.72%, respectively. Meanwhile, the increase of root vigour was as high as 35.35%, and the DNA damage of the root system was obviously repaired. In conclusion, the inoculation of AMF can promote the accumulation of secondary metabolites, alleviate root damage, and enhance the tolerance to cadmium stress in C. scutellarioides.
Cadmium/toxicity* ; Mycorrhizae/physiology* ; Plant Roots/drug effects* ; Soil Pollutants/toxicity* ; Stress, Physiological ; Superoxide Dismutase/metabolism*

Objective:To investigate the risk factors and construct a nomogram prediction model for neonatal bacterial meningitis (BM).Methods:A retrospective cohort study was conducted on 1 228 neonates who underwent lumbar puncture for cerebrospinal fluid examination in the Department of Neonatology at Gansu Provincial Women and Child Healthcare Hospital from December 2019 to February 2024. The subjects were randomly divided into a training cohort and a validation cohort at a ratio of 7∶3 using a computer program. Rank sum test or Chi-square tests were used to compare differences between the two cohorts. The subjects were divided into BM and non-BM groups based on the presence or absence of BM. Multivariate logistic regression analysis (forward stepwise regression method) was used in the training cohort to identify risk factors for BM. The area under the receiver operating characteristic curve (AUC) and the Hosmer-Lemeshow goodness-of-fit test were used to assess the discrimination and calibration of the model, respectively. Calibration curves were used to evaluate the accuracy of the model and to construct the nomogram. Internal validation was performed using the Bootstrap resampling method. Decision curve analysis was used to assess the clinical utility of the model. Results:Among the 1 228 neonates, 151 (12.3%) had BM. The training cohort included 859 neonates, of whom 106 (12.3%) had BM and 753 (87.7%) did not. The validation cohort included 369 neonates, of whom 45 (12.2%) had BM and 324 (87.8%) did not. The results of the multivariate logistic regression analysis in the training cohort showed that sepsis ( OR=4.446, 95% CI:2.583-7.653), convulsions ( OR=3.749, 95% CI:1.930-7.280), high maximum body temperature ( OR=2.027, 95% CI:1.636-2.513), and elevated C-reactive protein ( OR=1.007, 95% CI:1.003-1.012) were independent risk factors for BM, while greater gestational age at birth ( OR=0.946, 95% CI: 0.898-0.995) and higher hemoglobin levels ( OR=0.990, 95% CI:0.981-0.998) were protective factors for BM (all P<0.05). Based on these findings, a nomogram prediction model for neonatal BM was constructed and validated for accuracy. The AUC values of the nomogram model in the training and validation cohorts were 0.796 (95% CI: 0.750-0.843) and 0.781 (95% CI: 0.700-0.862), respectively. The Hosmer-Lemeshow goodness-of-fit test showed P>0.05 in both cohorts. The clinical decision curve analysis demonstrated good net benefit across most threshold ranges. Conclusions:Sepsis, convulsions, high maximum body temperature, and elevated C-reactive protein increase the risk of neonatal BM. The nomogram model constructed based on these factors, combined with gestational age and hemoglobin levels, provides a reference value for predicting the risk of neonatal BM.

Objective:To explore the application effect of comfort-based light sedation strategy nursing model in early rehabilitation exercises for critically ill patients after gastrointestinal surgery, aiming to provide a reference for the recovery of patients after gastrointestinal surgery.Methods:A randomized controlled trial was conducted using purposive sampling to select 110 critically ill patients who underwent gastrointestinal surgery from July 2022 to December 2023 in the Department of Critical Care Medicine of Shantou Central Hospital. Patients were randomly assigned into the control group and the observation group, with 55 cases in each group. The control group received routine sedation care, while the observation group adopted a comfort-based light sedation strategy nursing model. The NRS (Digital Rating Scale for Pain), RASS (Rationalizing Self-Assessment Scale), SAS (Self-Rating Anxiety Scale), analgesic and sedative drug usage, postoperative bowel sounds, flatus, and defecation onset time, ICU length of stay, delirium incidence, postoperative 24-hour MRC muscle strength score, and discharge Modified Barthel Index (MBI) scores were compared between the two groups at 8 hours, 24 hours, 48 hours, 72 hours, and 96 hours postoperatively.Results:During the study, 5 cases dropped out from both the observation and control groups, leaving 50 cases each complete. The control group consisted of 32 males and 18 females, with an average age of (66.94 ± 14.39) years; the observation group consisted of 34 males and 16 females, with an average age of (68.01 ± 14.76) years. At 8, 24, 48, 72, 96 hours postoperatively, the NRS scores for the observation group were (3.11 ± 0.58), (3.14 ± 0.53), (3.09 ± 0.56), (2.97 ± 0.50), and (2.48 ± 0.45), respectively, were all lower than those of the control group (3.55 ± 0.61), (3.46 ± 0.59), (3.42 ± 0.62), (3.38 ± 0.54), (2.87 ± 0.53), with statistically significant differences ( t values were 2.80 - 3.97, all P<0.05). The RASS scores at postoperative 8, 24, 48, 72, 96 hours were (- 1.42 ± 0.43), (- 1.41 ± 0.42), (- 1.39 ± 0.44), (- 1.36 ± 0.41), (- 1.32 ± 0.40) respectively, compared to the control group (- 1.85 ± 0.47), (- 1.78 ± 0.44), (- 1.81 ± 0.50), (- 1.80 ± 0.48), (- 1.68 ± 0.45), with statistically significant differences ( t values were 4.23 - 4.93, all P<0.05). The SAS scores at postoperative 48, 72, 96 hours were (49.68 ± 4.55), (48.69 ± 4.41), (46.71 ± 4.33) respectively, compared to the control group (53.75 ± 4.76), (53.13 ± 4.69), (52.84 ± 4.51), with statistically significant differences ( t = 4.37, 4.89, 6.93, all P<0.05); the propofol dosage in the observation group (3 228.52 ± 587.78) mg and the dexmedetomidine dosage (1 205.58 ± 311.46) μg were all lower than those of the control group (4 056.77 ± 638.04) mg and (1 650.77 ± 432.69) μg, with statistically significant differences ( t = 6.75, 5.92, both P<0.05). The start time of bowel sounds in the observation group was (18.63 ± 5.96) hours, the start time of flatus was (1.42 ± 0.57) days, and the start time of defecation was (2.02 ± 1.25) days. The ICU hospitalization duration of the observation group (5.54 ± 1.51) days was shorter than that of the control group (7.36 ± 1.89) days, with differences being statistically significant ( t values were 2.71 - 5.32, all P<0.05). The postoperative delirium incidence rate of the observation group was 8.00% (4/50) lower than that of the control group 24.00% (12/50), with differences being statistically significant ( χ2 = 4.76, P<0.05). The postoperative 24-hour MRC muscle strength score (5.34 ± 0.58) and the discharge MBI score (77.56 ± 11.34) in the observation group were both significantly higher than those of the control group (4.79 ± 0.65) and (68.25 ± 10.47), respectively ( t = 4.46, 4.27, both P<0.05). Conclusions:The comfort-oriented light sedation strategy nursing model can improve the postoperative sedation and analgesia effects for ICU gastrointestinal surgery patients, promote gastrointestinal function recovery, shorten ICU hospital stay, reduce delirium incidence, and accelerate patient postoperative recovery.

Objective:To explore the application effect of comfort-based light sedation strategy nursing model in early rehabilitation exercises for critically ill patients after gastrointestinal surgery, aiming to provide a reference for the recovery of patients after gastrointestinal surgery.Methods:A randomized controlled trial was conducted using purposive sampling to select 110 critically ill patients who underwent gastrointestinal surgery from July 2022 to December 2023 in the Department of Critical Care Medicine of Shantou Central Hospital. Patients were randomly assigned into the control group and the observation group, with 55 cases in each group. The control group received routine sedation care, while the observation group adopted a comfort-based light sedation strategy nursing model. The NRS (Digital Rating Scale for Pain), RASS (Rationalizing Self-Assessment Scale), SAS (Self-Rating Anxiety Scale), analgesic and sedative drug usage, postoperative bowel sounds, flatus, and defecation onset time, ICU length of stay, delirium incidence, postoperative 24-hour MRC muscle strength score, and discharge Modified Barthel Index (MBI) scores were compared between the two groups at 8 hours, 24 hours, 48 hours, 72 hours, and 96 hours postoperatively.Results:During the study, 5 cases dropped out from both the observation and control groups, leaving 50 cases each complete. The control group consisted of 32 males and 18 females, with an average age of (66.94 ± 14.39) years; the observation group consisted of 34 males and 16 females, with an average age of (68.01 ± 14.76) years. At 8, 24, 48, 72, 96 hours postoperatively, the NRS scores for the observation group were (3.11 ± 0.58), (3.14 ± 0.53), (3.09 ± 0.56), (2.97 ± 0.50), and (2.48 ± 0.45), respectively, were all lower than those of the control group (3.55 ± 0.61), (3.46 ± 0.59), (3.42 ± 0.62), (3.38 ± 0.54), (2.87 ± 0.53), with statistically significant differences ( t values were 2.80 - 3.97, all P<0.05). The RASS scores at postoperative 8, 24, 48, 72, 96 hours were (- 1.42 ± 0.43), (- 1.41 ± 0.42), (- 1.39 ± 0.44), (- 1.36 ± 0.41), (- 1.32 ± 0.40) respectively, compared to the control group (- 1.85 ± 0.47), (- 1.78 ± 0.44), (- 1.81 ± 0.50), (- 1.80 ± 0.48), (- 1.68 ± 0.45), with statistically significant differences ( t values were 4.23 - 4.93, all P<0.05). The SAS scores at postoperative 48, 72, 96 hours were (49.68 ± 4.55), (48.69 ± 4.41), (46.71 ± 4.33) respectively, compared to the control group (53.75 ± 4.76), (53.13 ± 4.69), (52.84 ± 4.51), with statistically significant differences ( t = 4.37, 4.89, 6.93, all P<0.05); the propofol dosage in the observation group (3 228.52 ± 587.78) mg and the dexmedetomidine dosage (1 205.58 ± 311.46) μg were all lower than those of the control group (4 056.77 ± 638.04) mg and (1 650.77 ± 432.69) μg, with statistically significant differences ( t = 6.75, 5.92, both P<0.05). The start time of bowel sounds in the observation group was (18.63 ± 5.96) hours, the start time of flatus was (1.42 ± 0.57) days, and the start time of defecation was (2.02 ± 1.25) days. The ICU hospitalization duration of the observation group (5.54 ± 1.51) days was shorter than that of the control group (7.36 ± 1.89) days, with differences being statistically significant ( t values were 2.71 - 5.32, all P<0.05). The postoperative delirium incidence rate of the observation group was 8.00% (4/50) lower than that of the control group 24.00% (12/50), with differences being statistically significant ( χ2 = 4.76, P<0.05). The postoperative 24-hour MRC muscle strength score (5.34 ± 0.58) and the discharge MBI score (77.56 ± 11.34) in the observation group were both significantly higher than those of the control group (4.79 ± 0.65) and (68.25 ± 10.47), respectively ( t = 4.46, 4.27, both P<0.05). Conclusions:The comfort-oriented light sedation strategy nursing model can improve the postoperative sedation and analgesia effects for ICU gastrointestinal surgery patients, promote gastrointestinal function recovery, shorten ICU hospital stay, reduce delirium incidence, and accelerate patient postoperative recovery.

Objective:To investigate the risk factors and construct a nomogram prediction model for neonatal bacterial meningitis (BM).Methods:A retrospective cohort study was conducted on 1 228 neonates who underwent lumbar puncture for cerebrospinal fluid examination in the Department of Neonatology at Gansu Provincial Women and Child Healthcare Hospital from December 2019 to February 2024. The subjects were randomly divided into a training cohort and a validation cohort at a ratio of 7∶3 using a computer program. Rank sum test or Chi-square tests were used to compare differences between the two cohorts. The subjects were divided into BM and non-BM groups based on the presence or absence of BM. Multivariate logistic regression analysis (forward stepwise regression method) was used in the training cohort to identify risk factors for BM. The area under the receiver operating characteristic curve (AUC) and the Hosmer-Lemeshow goodness-of-fit test were used to assess the discrimination and calibration of the model, respectively. Calibration curves were used to evaluate the accuracy of the model and to construct the nomogram. Internal validation was performed using the Bootstrap resampling method. Decision curve analysis was used to assess the clinical utility of the model. Results:Among the 1 228 neonates, 151 (12.3%) had BM. The training cohort included 859 neonates, of whom 106 (12.3%) had BM and 753 (87.7%) did not. The validation cohort included 369 neonates, of whom 45 (12.2%) had BM and 324 (87.8%) did not. The results of the multivariate logistic regression analysis in the training cohort showed that sepsis ( OR=4.446, 95% CI:2.583-7.653), convulsions ( OR=3.749, 95% CI:1.930-7.280), high maximum body temperature ( OR=2.027, 95% CI:1.636-2.513), and elevated C-reactive protein ( OR=1.007, 95% CI:1.003-1.012) were independent risk factors for BM, while greater gestational age at birth ( OR=0.946, 95% CI: 0.898-0.995) and higher hemoglobin levels ( OR=0.990, 95% CI:0.981-0.998) were protective factors for BM (all P<0.05). Based on these findings, a nomogram prediction model for neonatal BM was constructed and validated for accuracy. The AUC values of the nomogram model in the training and validation cohorts were 0.796 (95% CI: 0.750-0.843) and 0.781 (95% CI: 0.700-0.862), respectively. The Hosmer-Lemeshow goodness-of-fit test showed P>0.05 in both cohorts. The clinical decision curve analysis demonstrated good net benefit across most threshold ranges. Conclusions:Sepsis, convulsions, high maximum body temperature, and elevated C-reactive protein increase the risk of neonatal BM. The nomogram model constructed based on these factors, combined with gestational age and hemoglobin levels, provides a reference value for predicting the risk of neonatal BM.

With the increasing proportion of human papilloma virus(HPV)infection in the pathogenic factors of oro-pharyngeal cancer,a series of changes have occurred in the surgical treatment.While the treatment mode has been im-proved,there are still many problems,including the inconsistency between diagnosis and treatment modes,the lack of popularization of reconstruction technology,the imperfect post-treatment rehabilitation system,and the lack of effective preventive measures.Especially in terms of treatment mode for early oropharyngeal cancer,there is no unified conclu-sion whether it is surgery alone or radiotherapy alone,and whether robotic minimally invasive surgery has better func-tional protection than radiotherapy.For advanced oropharyngeal cancer,there is greater controversy over the treatment mode.It is still unclear whether to adopt a non-surgical treatment mode of synchronous chemoradiotherapy or induction chemotherapy combined with synchronous chemoradiotherapy,or a treatment mode of surgery combined with postopera-tive chemoradiotherapy.In order to standardize the surgical treatment of oropharyngeal cancer in China and clarify the indications for surgical treatment of oropharyngeal cancer,this expert consensus,based on the characteristics and treat-ment status of oropharyngeal cancer in China and combined with the international latest theories and practices,forms consensus opinions in multiple aspects of preoperative evaluation,surgical indication determination,primary tumor re-section,neck lymph node dissection,postoperative defect repair,postoperative complication management prognosis and follow-up of oropharyngeal cancer patients.The key points include:① Before the treatment of oropharyngeal cancer,the expression of P16 protein should be detected to clarify HPV status;② Perform enhanced magnetic resonance imaging of the maxillofacial region before surgery to evaluate the invasion of oropharyngeal cancer and guide precise surgical resec-tion of oropharyngeal cancer.Evaluating mouth opening and airway status is crucial for surgical approach decisions and postoperative risk prediction;③ For oropharyngeal cancer patients who have to undergo major surgery and cannot eat for one to two months,it is recommended to undergo percutaneous endoscopic gastrostomy before surgery to effectively improve their nutritional intake during treatment;④ Early-stage oropharyngeal cancer patients may opt for either sur-gery alone or radiation therapy alone.For intermediate and advanced stages,HPV-related oropharyngeal cancer general-ly prioritizes radiation therapy,with concurrent chemotherapy considered based on tumor staging.Surgical treatment is recommended as the first choice for HPV unrelated oropharyngeal squamous cell carcinoma(including primary and re-current)and recurrent HPV related oropharyngeal squamous cell carcinoma after radiotherapy and chemotherapy;⑤ For primary exogenous T1-2 oropharyngeal cancer,direct surgery through the oral approach or da Vinci robotic sur-gery is preferred.For T3-4 patients with advanced oropharyngeal cancer,it is recommended to use temporary mandibu-lectomy approach and lateral pharyngotomy approach for surgery as appropriate;⑥ For cT1-2N0 oropharyngeal cancer patients with tumor invasion depth＞3 mm and cT3-4N0 HPV unrelated oropharyngeal cancer patients,selective neck dissection of levels ⅠB to Ⅳ is recommended.For cN+HPV unrelated oropharyngeal cancer patients,therapeutic neck dissection in regions Ⅰ-Ⅴ is advised;⑦ If PET-CT scan at 12 or more weeks after completion of radiation shows intense FDG uptake in any node,or imaging suggests continuous enlargement of lymph nodes,the patient should undergo neck dissection;⑧ For patients with suspected extracapsular invasion preoperatively,lymph node dissection should include removal of surrounding muscle and adipose connective tissue;⑨ The reconstruction of oropharyngeal cancer defects should follow the principle of reconstruction steps,with priority given to adjacent flaps,followed by distal pedicled flaps,and finally free flaps.The anterolateral thigh flap with abundant tissue can be used as the preferred flap for large-scale postoperative defects.

This article combs and summarizes the entire process of rare disease selection and priority theme determination,including the application and preliminary review of rare diseases,standardization of disease theme information,the evaluation methods of evidence sorting and disease selection for priority se-lection of disease themes,and other aspects of the content were analyzed in depth.It is expected to provide reference for the subsequent selection of rare diseases,improve the fairness,rationality and scientificity of rare disease selection,and further promote research and decision-making in China's rare disease-related fields.

Purpose: Patients with advanced biliary tract cancer (BTC) have a poor survival. We aim to evaluate the efficacy and safety of nab-paclitaxel plus gemcitabine and cisplatin regimen in Chinese advanced BTC patients. Materials and Methods: Eligible patients with locally advanced or metastatic BTC administrated intravenous 100 mg/m2 nab-paclitaxel, 800 mg/m2 gemcitabine, and 25 mg/m2 cisplatin every 3 weeks. The primary endpoint was progression-free survival (PFS). The secondary endpoints included overall survival (OS) and adverse events, while exploratory endpoint was the association of biomarkers with efficacy. Results: After the median follow-up of 25.0 months, the median PFS and OS of 34 enrolled patients were 7.1 months (95% confidence interval [CI], 5.4 to 13.7) and 16.4 months (95% CI, 10.9 to 23.6), respectively. The most common treatment-related adverse events at ≥ 3 grade were neutropenia (26.5%) and leukopenia (26.5%). Survival analyses demonstrated that carcinoembryonic antigen (CEA) levels could monitor patients’ survival outcomes. A significant increase in the number of infiltrating CD4+ cells (p=0.008) and a decrease in programmed death-1–positive (PD-1+) cells (p=0.032) were observed in the response patients. Conclusion In advanced BTC patients, nab-paclitaxel plus gemcitabine and cisplatin regimen showed therapeutic potential. Potential prognostic factors of CEA levels, number of CD4+ cells and PD-1+ cells may help us maximize the efficacy benefit.