The construction of a training system for visiting physicians in the department of rare diseases in China is an important measure to improve the overall diagnosis and treatment capacity for rare diseases and address the critical challenge of insufficient knowledge and skills among clinicians in practice. This article systematically describes the visiting physician training system established by the Department of Rare Diseases at Peking Union Medical College Hospital. It summarizes the training objectives and positioning, design logic, and learning modules of the system, aiming to provide a reference for the construction of the specialized talent team for rare diseases in China.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Objective:To investigate the survival outcomes and prognostic factors in patients undergoing radical resection for pancreatic body and tail cancer.Methods:A retrospective case series study was conducted on 992 patients who underwent radical resection for pancreatic body and tail cancer at the Pancreatic Center of the First Affiliated Hospital of Nanjing Medical University from January 2016 to June 2024. In this study, 577 (58.2%) were male and 415 (41.8%) were female,with an age of (65±9) years (range: 26 to 86 years). Follow-up continued until June 2024. Survival rates were estimated using the Kaplan-Meier method,and prognostic factors were identified using univariate and multivariate Cox proportional hazards models.Results:Among 992 patients,open surgery was the predominant approach (89.1%, 884/992), and radical antegrade modular pancreatosplenectomy (RAMPS) was performed in 317 patients (32.0%). Combined organ resection,venous resection,and arterial resection were performed in 23.5%, 9.3%,and 11.2% of patients,respectively. The rates of R0, R1-1 mm, and R1-direct resections were 49.8% (494/992),41.5% (412/992), and 8.7% (86/992),respectively. Stage ⅡB was the most common TNM stage (32.2%,319/992). A total of 801 patients (80.8%) received adjuvant chemotherapy. The median follow-up period was 32.0(8.8) months(range:3.2 to 105.3 months),during which 508 patients (51.2%) died. The overall median survival (OS) was 26.4 months,with 1-,3-, and 5-year survival rates of 79.0%,40.0%, and 29.0%, respectively. In the recent five years (from 2020 to 2024), the median OS improved significantly to 34.1 months compared to 20.0 months from 2016 to 2019 ( P<0.01). Histological subtype analysis showed that the median OS time was 26.7 months for pancreatic ductal adenocarcinoma (PDAC, n=855),58.9 months for invasive intraductal papillary mucinous carcinoma (IPMC, n=32),and 15.7 months for adenosquamous carcinoma of pancreas (ASCP, n=73) ( P=0.001). Among PDAC patients, adjuvant chemotherapy significantly improved survival (29.1 months vs. 14.4 months, P<0.01);in IPMC patients, adjuvant chemotherapy also extended survival (65.7 months vs. 58.9 months, P=0.047). Although ASCP patients receiving chemotherapy had a longer median OS time than those without (18.8 months vs. 8.9 months),the difference was not statistically significant ( P=0.151). Multivariate Cox regression analysis in PDAC patients indicated that adjuvant chemotherapy, R0 resection, T stage,N stage,and tumor differentiation were independent prognostic factors ( P<0.01). The median OS time by TNM stage was:not reached for stage ⅠA, 51.6 months for ⅠB, 25.5 months for ⅡA, 23.7 months for ⅡB, 23.0 months for Ⅲ, and 14.4 months for Ⅳ. The median OS time for R0,R1-1 mm,and R1-direct resections was 34.1,24.7,and 15.7 months,respectively ( P<0.01). Conclusion:Adjuvant chemotherapy,R0 resection,tumor stage,and differentiation are independent prognostic factors for pancreatic body and tail cancer.

Objective:To investigate the survival outcomes and prognostic factors in patients undergoing radical resection for pancreatic body and tail cancer.Methods:A retrospective case series study was conducted on 992 patients who underwent radical resection for pancreatic body and tail cancer at the Pancreatic Center of the First Affiliated Hospital of Nanjing Medical University from January 2016 to June 2024. In this study, 577 (58.2%) were male and 415 (41.8%) were female,with an age of (65±9) years (range: 26 to 86 years). Follow-up continued until June 2024. Survival rates were estimated using the Kaplan-Meier method,and prognostic factors were identified using univariate and multivariate Cox proportional hazards models.Results:Among 992 patients,open surgery was the predominant approach (89.1%, 884/992), and radical antegrade modular pancreatosplenectomy (RAMPS) was performed in 317 patients (32.0%). Combined organ resection,venous resection,and arterial resection were performed in 23.5%, 9.3%,and 11.2% of patients,respectively. The rates of R0, R1-1 mm, and R1-direct resections were 49.8% (494/992),41.5% (412/992), and 8.7% (86/992),respectively. Stage ⅡB was the most common TNM stage (32.2%,319/992). A total of 801 patients (80.8%) received adjuvant chemotherapy. The median follow-up period was 32.0(8.8) months(range:3.2 to 105.3 months),during which 508 patients (51.2%) died. The overall median survival (OS) was 26.4 months,with 1-,3-, and 5-year survival rates of 79.0%,40.0%, and 29.0%, respectively. In the recent five years (from 2020 to 2024), the median OS improved significantly to 34.1 months compared to 20.0 months from 2016 to 2019 ( P<0.01). Histological subtype analysis showed that the median OS time was 26.7 months for pancreatic ductal adenocarcinoma (PDAC, n=855),58.9 months for invasive intraductal papillary mucinous carcinoma (IPMC, n=32),and 15.7 months for adenosquamous carcinoma of pancreas (ASCP, n=73) ( P=0.001). Among PDAC patients, adjuvant chemotherapy significantly improved survival (29.1 months vs. 14.4 months, P<0.01);in IPMC patients, adjuvant chemotherapy also extended survival (65.7 months vs. 58.9 months, P=0.047). Although ASCP patients receiving chemotherapy had a longer median OS time than those without (18.8 months vs. 8.9 months),the difference was not statistically significant ( P=0.151). Multivariate Cox regression analysis in PDAC patients indicated that adjuvant chemotherapy, R0 resection, T stage,N stage,and tumor differentiation were independent prognostic factors ( P<0.01). The median OS time by TNM stage was:not reached for stage ⅠA, 51.6 months for ⅠB, 25.5 months for ⅡA, 23.7 months for ⅡB, 23.0 months for Ⅲ, and 14.4 months for Ⅳ. The median OS time for R0,R1-1 mm,and R1-direct resections was 34.1,24.7,and 15.7 months,respectively ( P<0.01). Conclusion:Adjuvant chemotherapy,R0 resection,tumor stage,and differentiation are independent prognostic factors for pancreatic body and tail cancer.

Objective To investigate the screening results and factors affecting abnormal detection rates among high-risk groups of esophageal cancer and to explore effective intervention measures. Methods We investigated and collected the information on gender, education level, age, marital status, symptoms of reflux esophagitis (heartburn, acid reflux, belching, hiccup, foreign body sensation in the pharynx, and difficulty swallowing), consumption of pickled vegetables, salt use, and esophageal cancer incidence of villagers in a natural village in Wenfeng District, Anyang City, Henan Province. Changes in reflux esophagitis symptoms in the high-incidence area of esophageal cancer before and after 16 years were observed, and the relationship of such changes with esophageal cancer was analyzed. Results In 2008, 711 cases were epidemiologically investigated, including 213 cases with one of the symptoms of reflux esophagitis such as heartburn, acid reflux, belching, hiccups, foreign body sensation in the pharynx, and difficulty swallowing (sorted in accordance with the abovementioned symptoms; if there are multiple symptoms, then the former is taken); 55 cases with at least two related symptoms, among which the most symptom was heartburn in 108 cases (15.1%); followed by acid reflux, belching, etc. In 2024, the same group of people was investigated, and eight people were missing because of relocation. A total of 703 people were successfully investigated, of which 189 cases (26.8%) had one of the symptoms of reflux esophagitis, such as heartburn (sorted in accordance with relevant symptoms, if there are multiple symptoms, then the former will be selected); 167 cases (23.7%) had at least two related symptoms, among which the most symptom was heartburn in 139 cases (19.7%); followed by acid reflux. Over 16 years, among the 703 people investigated, 45 cases had esophageal cancer and they had one or more of the abovementioned symptoms. No significant differences in the reflux esophagitis-like symptoms were found between 2008 and 2024 (P=0.26); no significant differences in the composition of reflux esophagitis-like symptoms were found between 2008 and 2024 (P=0.299). Conclusion The detection rate of reflux esophagitis-related symptoms in the population in a high-risk area of esophageal cancer has not decreased in the past 16 years, and the high-risk factors still exist. Esophageal cancer is closely related to reflux esophagitis, and clinical practice can provide early diagnosis and treatment for high-risk population.

Objective:To investigate the clinical efficacy of pancreatic cancer surgery with arterial resection.Methods:The clinicopathological and follow-up data of 135 patients undergoing pancreatectomies with arterial resection in Pancreas Center, the First Affiliated Hospital of Nanjing Medical University from Sep 2013 to Dec 2023 were retrospectively analyzed.Results:There were 77 males and 58 females, with age [ M( IQR)] of 63 (14) years old. Among the 135 patients, 122 (90.4%) were distal pancreatectomies, 8 (5.9%) were pancreaticoduodenectomies, 4 (3.0%) were total pancreatectomies and 1 (0.7%) was resection for local recurrence after distal pancreatectomy. There were 120 (88.9%) celiac axis resections, 11 (8.1%) hepatic artery resections, 1 (0.7%) superior mesenteric artery resection and 3 (2.2%) other artery resections. Simultaneous portal vein-superior mesenteric vein or organ resection accounted for 26.7% (36/135) and 29.6% (40/135),respectively. The median blood loss was 300 (300) ml and the median operation time was 275 (105) minutes. The 90-day mortality rate was 7.4% (10/135). The overall morbidity rate was 70.4% (95/135) while the major morbidity rate was 18.5% (25/135). Postoperative hemorrhage occurred in 8.9% (12/135), clinically relevant postoperative pancreatic fistula in 57.0% (77/135), bile leak in 0.74% (1/135), delayed gastric emptying in 9.6% (13/135), liver failure in 3.7% (5/135) and transient liver enzyme elevation in 44.4% (60/135). All of the 135 cases were confirmed as pancreatic cancer histologically, including 54.6% (71/130) moderately differentiated, 45.4% (59/130) poorly differentiated and no for well differentiated. The median tumor size was 4.5 (2.3) cm. The median number of harvested lymph nodes was 14 (13) and the percentage of N0, N1 and N2 according to AJCC 8th staging system was 27.1% (36/133), 52.6% (70/133) and 20.3% (27/133), respectively. The R 0 resection was achieved in 40 of 123 cases (32.5%), whose margins of specimens were assessed circumferentially based on the 1mm rule. The median overall survival time (MST) after surgery was 22.5 months, and the median progress-free survival time was 16.1 months. The overall survival rate at 1-, 2- and 5-year was 71.5%, 45.1% and 11.3%, respectively. The MST of patients who received no adjuvant therapy, chemotherapy after surgery was 8.4 months, 25.3 months, respectively. Conclusions:Pancreatectomy with arterial resection is generally safe and feasible. Survival outcome improves significantly when combined with adjuvant chemotherapy.

Objective:To observe the clinical efficacy of unilateral biportal endoscopy (UBE) assisted bilateral decompression in the treatment of lumbar disc herniation with imaging herniation on one side and clinical symptoms on the contralateral side.Methods:A total of 20 patients with lumbar disc herniation with imaging herniation on one side and clinical symptoms on the contralateral side treated with UBE from January 2022 to January 2024 in the Affiliated Hospital of Binzhou Medical University were retrospectively analyzed. There were 9 males and 11 females, aged 50.4±14.0 years (range, 23-72 years). The intervertebral disc herniation level included L 3-4 in 1 case, L 4-5 in 15 cases, and L 5S 1 in 4 cases. There were 10 cases on the left side and 10 cases on the right side. The duration of symptoms was 24.1±33.7 months (range, 1-120 months). Visual analogue scale (VAS) and Oswestry disability index (ODI) were used to evaluate postoperative pain relief and functional recovery. The clinical efficacy was evaluated by modified MacNab criteria at 6 months after operation. Results:All patients successfully completed the operation. The operation time was 90.3±24.6 min (range, 55-134 mins). The VAS scores of patients at 3 days, 1 month, 3 months and 6 months after operation were 3.6±0.9, 2.2±0.7, 1.2±0.5 and 1.0±0.6, respectively, which were lower than those before operation (6.4±0.8), and the differences were statistically significant ( F=668.728, P<0.001). The ODI at 3 days, 1 month, 3 months and 6 months after operation were 34.2%±4.7%, 28.7%±2.8%, 24.3%±2.1% and 20.5%±2.0%, respectively, which were lower than 69.4%±5.2% before operation, and the differences were statistically significant ( F=515.578, P<0.001). The clinical efficacy was evaluated by modified MacNab criteria at 6 months after operation. Among 20 patients, 18 cases were excellent, 1 case was good, and 1 case was fair. All patients were followed up for 9.1±2.1 months (range, 6-14 months). One patient had a dural tear during the operation, but the range was small and there was no defect, and no further treatment was performed. Numbness of the lower limbs occurred 1 day after operation, and the symptoms disappeared after symptomatic treatment. There was no recurrence of lower limb symptoms, lumbar instability, intervertebral space infection or other complications at the last follow-up. Conclusion:Bilateral decompression with UBE is effective in the treatment of lumbar disc herniation with imaging herniation on one side and clinical symptoms on the contralateral side, which can improve the lumbar pain and function of patients.

For middle-aged and elderly patients with conditions such as spinal fractures and degenerative spinal diseases, spinal internal fixation is a core surgical procedure for reconstructing spinal stability, heavily relying on the biomechanical stability provided by pedicle screw systems. Whereas, these patients are often complicated by osteoporosis that can significantly compromise the stability of the bone-pedicle screw interface, leading to a marked increase in pedicle screw loosening and surgical failure rates. The bone cement-augmented pedicle screw technique, which involves injecting bone cement into the vertebral body or screw trajectory to optimize the mechanical properties of the bone-pedicle screw composite, has been proven to significantly enhance fixation strength and effectively prevent screw-related failures, thereby reducing the incidence of internal fixation failure in high-risk populations undergoing spinal fusion. However, the widespread clinical application of this technique has faced challenges such as inaccurate clinical decision-making (indication and contraindication selection), non-standardized operative practices, and insufficient awareness of complication prevention, resulting in considerable variability in clinical outcomes and even severe complications. To address this, Prof. Luo Fei from First Affiliated Hospital of Army Medical University initiated the project and the Chinese Association Orthopaedic Surgeons organized relevant experts to develop the Evidence-based clinical practice guideline for bone cement-augmented pedicle screw technique ( version 2025), based on current evidence. The guidelines put forward 8 recommendations regarding the clinical value, scope of application, and operational standards of the technique, aiming to provide evidence-based medical support and technical standardization for clinical decision-making.

Objective:To explore and demonstrate the effect of general-specialty hierarchical management mode for chronic heart failure (CHF) in community.Methods:This was a single-blind, randomized, controlled study. A total of 530 CHF inpatients who attended Weifang Community Health Service Center (WCHSC) in Pudong New Area from February 2018 to September 2019 were consecutively enrolled. A random number table method was used to divide the patients into the management group ( n=265) and control group ( n=265). The demographic data and past medical history were collected 1 day before enrolment (baseline), and patients were assessed for New York Heart Association (NYHA) cardiac function classification and tested for blood N-terminal B-type natriuretic peptide proteins (NT-proBNP) levels, while Doppler echocardiography was performed to obtain the relevant indexes. The management group used a comprehensive management mode, co-delivered by both WCHSC (offering primary care) and RHSJUSM (offering specialty care) at Renji-Weifang CHF Studio in WCHSC , using the jointly developed CHF hierarchical CHF diagnosis and treatment criteria and referral procedure under the condition of sharing drugs and laboratory test results for CHF. The control group received routine heart failure care. Intergroup comparisons were made on baseline data obtained before follow-up and on NT-proBNP , left ventricular ejection fraction (LVEF), NYHA functional class , re-hospitalization rate and mortality rate at the end of the 6-month follow-up. Results:A total of 506 cases completed the follow-up. There were 253 patients in the management group, aged (68.26±9.41) years, 117 males (46.2%); 253 were in the control group, aged (66.98±9.63) years, 115 males (45.5%). There were no statistically significant differences in age, sex, marital status, education level, and comorbidities between the two groups (all P>0.05). At baseline, the differences in LVEF and NT-proBNP between the two groups were not statistically significant (all P>0.05), and at 6 months of intervention, LVEF, and NT-proBNP had significantly improved in both groups (all P<0.05) . Moreover, LVEF was higher in the management group than in the control group, and NT-proBNP was lower than in the control group (both P<0.01). At baseline, there were 166 cases (65.6%) in the control group with NYHA class Ⅲ/Ⅳ, and 145 cases (57.3%) in the comprehensive management group. There was no statistically significant difference between the two groups ( P>0.05). At 6 months of intervention, the percentage of NYHA class Ⅲ/Ⅳ patients in the comprehensive management group was lower than at baseline ( P<0.01),while that in the control group was higher than at baseline ( P<0.01), and the comprehensive management group was lower than that in the control group ( P<0.01). During the follow-up period, the rehospitalization rate for CHF in the management group was 13.83%(35/253), which was lower than that in the control group, which was 26.88%(68/253) ( P<0.001). Conclusion:The comprehensive management mode of CHF in the community through collaboration between general and specialized departments can significantly improve the management effect, suggesting that this mode is effective and can be promoted.