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.

The Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis （GS/CACM 337-2023） was released by the China Association of Chinese Medicine on December 13^th， 2023. This expert consensus was developed by experts in methodology， pharmacy， and Chinese medicine in strict accordance with the development requirements of the China Association of Chinese Medicine （CACM） and based on the latest medical evidence and the clinical medication experience of well-known experts in the fields of respiratory medicine （pulmonary diseases） and pediatrics. This expert consensus defines the application of Qinbaohong Zhike oral liquid in the treatment of cough and excessive sputum caused by phlegm-heat obstructing lung， acute bronchitis， and acute attack of chronic bronchitis from the aspects of applicable populations， efficacy evaluation， usage， dosage， drug combination， and safety. It is expected to guide the rational drug use in medical and health institutions， give full play to the unique value of Qinbaohong Zhike oral liquid， and vigorously promote the inheritance and innovation of Chinese patent medicines.

Objective To propose a lung artery segmentation method that integrates shape and position prior knowledge, aiming to solve the issues of inaccurate segmentation caused by the high similarity and small size differences between the lung arteries and surrounding tissues in CT images. Methods Based on the three-dimensional U-Net network architecture and relying on the PARSE 2022 database image data, shape and position prior knowledge was introduced to design feature extraction and fusion strategies to enhance the ability of lung artery segmentation. The data of the patients were divided into three groups: a training set, a validation set, and a test set. The performance metrics for evaluating the model included Dice Similarity Coefficient (DSC), sensitivity, accuracy, and Hausdorff distance (HD95). Results The study included lung artery imaging data from 203 patients, including 100 patients in the training set, 30 patients in the validation set, and 73 patients in the test set. Through the backbone network, a rough segmentation of the lung arteries was performed to obtain a complete vascular structure; the branch network integrating shape and position information was used to extract features of small pulmonary arteries, reducing interference from the pulmonary artery trunk and left and right pulmonary arteries. Experimental results showed that the segmentation model based on shape and position prior knowledge had a higher DSC (82.81%±3.20% vs. 80.47%±3.17% vs. 80.36%±3.43%), sensitivity (85.30%±8.04% vs. 80.95%±6.89% vs. 82.82%±7.29%), and accuracy (81.63%±7.53% vs. 81.19%±8.35% vs. 79.36%±8.98%) compared to traditional three-dimensional U-Net and V-Net methods. HD95 could reach (9.52±4.29) mm, which was 6.05 mm shorter than traditional methods, showing excellent performance in segmentation boundaries. Conclusion The lung artery segmentation method based on shape and position prior knowledge can achieve precise segmentation of lung artery vessels and has potential application value in tasks such as bronchoscopy or percutaneous puncture surgery navigation.

ObjectiveTo analyze the epidemiological and clinical characteristics of surveillance cases in a sentinel hospital for pertussis in Jiangxi Province in 2019, and to provide corresponding references for the prevention and control of pertussis. MethodsCase investigation of pertussis was conducted among sentinel hospital surveillance cases, collecting their basic information, epidemiological characteristics, clinical characteristics, and other information. ResultsA total of 125 pertussis surveillance cases were investigated in 2019, including 73 clinically diagnosed cases (58.40%) and 52 confirmed cases (41.60%). The age of onset was mainly concentrated in children under 5 years old (108 cases, 86.40%), with the largest number of cases in infants aged less than 1-year-old (48 cases, 38.40%). Most cases had a history of receiving pertussis vaccine before onset (110 cases, 88.00%), and the intervals between the onset date and the date of last dose of pertussis vaccine in the 1‒2 doses group were significantly shorter than that in the 3‒4 doses group (U=-5.990, P<0.001). Probable household transmission of pertussis was found in 3 cases. All cases had cough symptoms, mainly manifested as whooping cough (77 cases, 61.60%), in addition to other main clinical manifestations, such as fever (76 cases, 60.80%), vomiting (30 cases, 24.00%), conjunctival congestion (27 cases, 21.60%), and inspiratory whoop (16 cases, 12.80%). A total of 73 cases (58.40%) experienced complications, including 1 death case. All the cases had multiple medical visit experiences before this visit, with an interval of 2 (0,3) days between the onset date and the first visit date. The misdiagnosis rate at the first medical visit was 88.00% (110/125), and the misdiagnosis rate of the first visit in secondary and primary hospitals was significantly higher than that in tertiary hospitals, exhibiting a statistically significant difference (χ²=21.582, P<0.001). ConclusionThe clinical symptoms of pertussis cases are often atypical, and the first diagnosis is prone to misdiagnosis, so it’s necessary to further strengthen the early diagnosis capabilities for pertussis cases in healthcare institutions, especially in the primary healthcare institutions.

Objective:To investigate the clinical benefit and application value of the Da Vinci robotic surgical system through bilateral axillary areolar approach in cervical lymph node dissection in obese thyroid carcinoma patients.Methods:The clinical data of 117 patients with thyroid cancer admitted to the thyroid and breast surgery Department of the 960th Hospital of the Chinese PLA Joint Logistic Support Force from January 2018 to June 2023 were retrospectively analyzed. There were 55 males and 62 females, aged from 17 to 64 years, with an average age of (36.05±8.77) years. According to body mass index (BMI), patients were divided into normal group (18.5 kg/m 2≤BMI< 24 kg/m 2, n=60) and obese group (BMI≥28 kg/m 2, n=57). Gender, age, BMI, operation time, postoperative drainage fluid volume, tumor diameter, central lymph node dissection and number of metastasis, cervical lymph node dissection and number of metastasis, postoperative hospital stay, postoperative aesthetic satisfaction score and surgical complications of the two groups were analyzed. SPSS 26.0 statistical software was used to analyze the data. Results:All of patients completed the operation successfully, and neither group was transferred to open surgery. The BMI of obese group was higher than that of normal group [(31.35±3.08) kg/m 2vs (22.53±0.82) kg/m 2, t=20.97, P<0.05]. The maximum tumor diameter in the obese group was greater than that in the normal group [(13.81±10.70) mm vs (10.42±5.53) mm, t=2.17, P<0.05]. There were no significant differences in operation time, number of central lymph node dissection and metastasis, number of cervical lymph node dissection and metastasis and postoperative complications between the two groups ( P>0.05). Conclusions:Utilization of the Da Vinci robotic surgical system via the BABA approach demonstrates both safety and feasibility in obese patients with thyroid carcinoma undergoing lateral cervical lymph node dissection. Importantly, this technique does not increase the risk of surgical complications, thus providing a novel alternative for lateral cervical lymph node dissection in obese thyroid carcinoma patients.

Objective To explore clinical outcomes and bone resection of interlaminar fenestration decompression and u-nilateral biportal endoscopic(UBE)technique in treating lumbar disc herniation(LDH).Methods A retrospective study was performed on 105 patients with single-level LDH treated from December 2019 to December 2021.Fifty-four patients in UBE group,including 32 males and 22 females,aged from 18 to 50 years old with an average of(38.7±9.3)years old,were treated with UBE,29 patients withL4.5and 25 patients with L5S1.There were 51 patients in small fenestration group,including 27 males and 24 females,aged from 18 to 50 years old with an average of(39.9±10.0)years old,were treated with small fenestra-tion,25 patients with L4.5 and 26 patients with L5S1.Perioperative indexes,such as operation time,postoperative time of getting out of bed and hospital stay were observed and compared between two groups.Visual analogue scale(VAS)and Oswestry dis-ability index(ODI)were compared between two groups before operation and 1,3,6 and 12 months after operation,respective-ly;and modified MacNab evaluation criteria was used to evaluate clinical efficacy.Amount of bone resection and retention rate of inferior articular process laminoid complex were compared between two groups.Results All 105 patients were successfully completed operation.Both of two groups were followed up from 6 to 12 months with an average of(10.69±2.49)months.Oper-ation time,postoperative time of getting out of bed and hospital stay were(58.20±5.54)min,(2.40±0.57)dand(3.80±0.61)d in UBE group,and(62.90±7.14)min,(4.40±0.64)d and(4.40±0.64)d in small fenestrum group,respectively;and had sta-tistically difference between two groups(P＜0.05).Postoperative VAS of low back and leg pain and ODI in both groups were significantly lower than those before surgery(P＜0.05).VAS of lumbar pain in UBE group(1.37±0.49)score was lower than that of small fenestration group(2.45±0.64)score,and had statistically difference(t=9.745,P＜0.05).Postoperative ODI in UBE group at 1 and 3 months were(28.54±3.31)％and(22.87±3.23)％,respectively,which were lower than those in small fenestra group(36.31±9.08)％and(29.90±8.36)％,and the difference was statistically significant(P＜0.05).There were no significant difference in VAS and ODI between two groups at other time points(P＞0.05).According to the modified MacNab evaluation criteria at the latest follow-up,49 patients got excellent result,3 good,and 2 fair in UBE group.In small fenestration group,35 patients got excellent,12 good,and 4 fair.In UBE group,amount of bone resection on L4,5 segment was(0.45±0.08)cm3 and(0.31±0.08)cm3 on the segment of L5S1.In small fenestration group,amount of bone resection on L4.5 segment was(0.57±0.07)cm3 and(0.49±0.04)cm3 on the segment of L5S1,and amount of bone resection of lower articular process laminar complex on the same segment in UBE group was less than that in small fenestration group(P＜0.05).In UBE group,retention rate of laminoid complex on L4,5 segment was(0.73±0.04)and L5S1 segment was(0.83±0.03),whileL4,5segment was(0.68± 0.06)and L5S1 segment was(0.74±0.04)in small fenestration group,the lower articular process laminar complex retention rate in UBE group was higher than that in small fenestration group(P＜0.05).Conclusion Both unilateral double-channel endoscopy and small fenestration of laminae could achieve good clinical results in treating LDH,but UBE has advantages of less trauma,higher eficiency,faster postoperative recovery and less damage to bone structure.

Objective To establish the finite element model of spinal canal reconstruction and internal fixation,analysis influence of spinal canal reconstruction and internal fixation on spinal stability,and verify the effectiveness and reliability of spinal canal reconstruction and internal fixation in spinal canal surgery.Methods A 30-year-old male healthy volunteer with a height of 172 cm and weight of 75 kg was selected and his lumbar CT data were collected to establish a finite element model of normal lumbar Lo3-L,and the results were compared with in vitro solid results and published finite element analysis results to verify the validity of the model.They were divided into normal group,laminectomy group and spinal canal reconstruction group according to different treatment methods.Under the same boundary fixation and physiological load conditions,six kinds of ac-tivities were performed,including forward bending,backward extension,left bending,right bending,left rotation and right rota-tion,and the changes of range of motion(ROM)of L3-L4,L4-L5 segments and overall maximum ROM of L3-L5 were analyzed under the six conditions.Results The ROM displacement range of each segment of the constructed L3-L5 finite element model was consistent with the in vitro solid results and previous literature data,which confirms the validity of the model.In L3-L4,ROM of spinal canal reconstruction group was slightly increased than that of normal group during posterior extension(＞5％dif-ference),and ROM of other conditions was similar to that of normal group(＜5％difference).ROM in laminectomy group was significantly increase than that in normal group and spinal canal reconstruction group under the condition of flexion,extension,left and right rotation.In L4-L5,ROM in spinal canal reconstruction group was similar to that in normal group(＜5％differ-ence),while ROM in laminectomy group was significantly higher than that in normal group and spinal canal reconstruction group(＞5％difference).In the overall maximum ROM of L3-L5,spinal canal reconstruction group was only slightly higher than normal group under the condition of posterior extension(＞5％difference),while laminectomy was significantly higher than normal group and spinal canal reconstruction group under the condition of anterior flexion,posterior extension,left and right rotation(＞5％difference).The changes of each segment ROM and overall ROM of L3-L5 showed laminectomy group＞spinal canal reconstruction group＞normal group.Conclusion Laminectomy could seriously affect biomechanical stability of the spine,but application of spinal canal reconstruction and internal fixation could effectively reduce ROM displacement of the responsi-ble segment of spine and maintain its biomechanical stability.

Objective To investigate the clinical efficacy of arthroscopic measurement of intra-articular graft length in the application of total internal reconstruction of the anterior cruciate ligament(ACL).Methods The 60 patients with ACL injury treated between January 2020 and January 2022 were retrospectively analyzed.There were 37 males and 23 females,aged from 22 to 44 years.According to the different surgical methods,they were divided into two groups:conventional surgery group(conventional group)and pull-line measurement group(measurement group),with 30 cases in each group.In the conventional group,there were 20 males and 10 females,with an average age of(30.00±3.95)years old;the body mass index(BMI)was(22.58±1.41)kg·m-2;there were 9 cases on the left side and 21 cases on the right side;the time from injury to operation was(3.00±1.35)days.In the measurement group,there were 17 males and 13 females,with an average of(32.00±4.29)years;BMI was(23.29±1.39)kg·m-2;there were 12 cases on the left side and 18 cases on the right side;the time from injury to oper-ation was(3.00±1.27)days.The clinical data of the patients before surgery,6 months after surgery and 12 months after surgery were collected and recorded.The clinical efficacy of the two methods was compared in terms of postoperative VAS,KOOS,Lysholm score,IKDC score,knee stability(Lachman test,anterior drawer test and axial shift test),the degree of widening of bone tunnel diameter measured by CT at different stages of the postoperative period and MRI scoring system.Results At 12 months after surgery,the VAS of the measurement group was lower than that of the conventional group(P＜0.001).At 12 months after surgery,KOOS scores in the measurement group were higher than those in the conventional group,and there were statistical-ly significant differences in all scores except symptom scores(P＜0.05).Six months after operation,Lysholm total score and IKDC total score in the measurement group were higher than those in the conventional group,and the difference was statistically signifi-cant(P＜0.05).At 12 months after surgery,knee stability tests were performed,and the differences between the Lachman test,anterior drawer test and axial shift test measurement group and the conventional group were not statistically significant(P＞0.05).However,overall knee instability analysis showed that the knee stability of the measurement group was better than that of the con-trol group,and the difference between the groups was statistically significant(P=0.038).The imaging assessment of patients in both groups at 6 months after surgery showed that the widening of tendon tunnel diameter in both femur and tibia was reduced in the measurement group compared with the conventional group after surgery,and the difference was statistically significant(P＜0.05);MRI scores were higher in all patients in the measurement group those in the conventional group,at 6 months and 12 months agter surgery(P＜0.05).Conclusion Arthroscopic measurement of intra-articular cavity graft length in total internal technique for ACL reconstruction,high tendon utilization,good stability,the knee joint function has recovered satisfactorily within one year,and the therapeutic effect is affirmed.

Objective To observe the clinical effect of arthroscopic repair with metal suture anchor on type Ⅱ superior labral anterior to posterior(SLAP)lesion of the youth.Methods The clinical data of 32 young patients with type Ⅱ SLAP lesion who underwent arthroscopic repair with metal suture anchor were retrospectively analyzed.The postoperative complications of patients were counted.The visual analogue scale(VAS)score was used to evaluate the pain of patients.Rowe shoulder scoring system,Constant-Murley scoring system and American Shoulder and Elbow Surgeons(ASES)scoring system were used to evaluate the shoulder joint function.Results All the 32 patients successfully completed the operation,and they were followed up for 12 to 27 months,with the mean follow-up time of 15 months.After operation,the symptoms of shoulder pain and limited movement of 32 patients were significantly relieved,without complications such as shoulder joint infection,shoulder joint instability,or neurovascular injury.The postoperative VAS score,Rowe score,Constant-Murley score and ASES score of all patients were better than those before operation(P<0.05).Conclusion Arthroscopic repair with metal suture anchor on type Ⅱ SLAP lesion of the youth can achieve satisfactory clinical outcomes.

Objective To explore the risk factors for bile leakage after laparoscopic common bile duct exploration(LCBDE)with primary closure.Methods The clinical data of 560 patients with choledocholithiasis who underwent LCBDE with primary closure in Tianjin Hospital of Integrated Traditional Chinese and Western Medicine from September 2021 to September 2023 were retrospectively analyzed,and the patients were divided into the bile leak group and the non-bile leak group according to the occurrence of postoperative bile leakage.The risk factors affecting the occurrence of postoperative bile leakage were analyzed by multivariate analysis.Results A total of 64 cases(11.4% )experienced varying degrees of bile leakage,including 55 cases of grade A bile leakage,7 cases of grade B,and 2 cases of grade C.The thin common bile duct(OR=0.07,P<0.001),history of hypertension(OR=4.56,P<0.001),and high BMI(OR=1.17,P=0.002)were the risk factors for postoperative bile leakage in patients with choledocholithiasis.Conclusion Patients with thin common bile duct,hypertension and obesity are more likely to occur postoperative bile leakage.Patients with choledocholithiasis who have the above high-risk factors should be cautious in choosing LCBDE with primary closure.