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.

Clonal cell abnormalities represent a shared initiating event for systemic inflammation and organ injury across a spectrum of diseases, with diverse clonal origing including somatic mutations, germline mutations, and aberrant monoclonal immunoglobulin secretion. This review focuses on the clinical features, mechanism studies and therapeutic advances of the diseases, including VEXAS (vacuoles, E1 enzyme, X-linked, autoin-flammatory, somatic) syndrome, GATA2 deficiency, STAT3 gain-of-function (STAT3-GOF)syndrome, secondary hemophagocytic lymphohistiocytosis, and Schnitzler syndrome. It aims to deepen clinical understanding of these diseases and provide references for precision treatment.

Immunoglobulin G4-related disease (IgG4-RD) is a rare systemic immune-mediated disorder characterized by infiltration of IgG4-positive plasma cells and multiorgan fibrosis. Among them, cases with multiple pancreatic cystic lesions as the prominent manifestation are relatively rare, and they are easily misdiagnosed as pancreatic tumors or pancreatitis in clinical practice. Herein, we report one patient with IgG4-RD admitted to Peking Union Medical College Hospital. The patient initially presented with multiple pancreatic cystic lesions and aneurysmal dilatation of the abdominal aorta, accompanied by markedly elevated serum IgG4 levels. Combined with pathological findings from submandibular gland biopsy, the diagnosis of IgG4-RD was ultimately established. After treatment with a regimen of glucocorticoids combined with cyclophosphamide, the patient′s condition improved. Meanwhile, we performed a literature review of cases with IgG4-RD-related pancreatic cystic lesions, aiming to improve clinicians′ understanding of this rare disease phenotype.

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 compare the efficacy,acceptability and safety of a low-volume magnisium sodicum potassium sulfate oral sulfate solution(OSS)with polyethylene glycol(PEG)electrolytes powder in bowel preparation for colonoscopy.Methods A prospective,single-blinded and single-center cohort study was conducted.The ambulatory and hospitalized 1 037 patients who underwent colonoscopy from April 2023 to January 2024 were enrolled.Participants were divided into OSS group(639 cases)and PEG group(398 cases),according to the bowel cleansing drugs taken orally.After propensity score matching(PSM),each group included 385 cases.The success rate of bowel preparation,scores of Boston bowel preparation scale(BBPS),medication taste,patients'satisfaction and the occurrence of adverse events were compared.Results The success rate of bowel preparation in the OSS group was 96.4％(371/385),higher than the 91.7％(353/385)in the PEG group,and the difference was statistically significant(P＜0.05).The total and segmented BBPS scores of the OSS group were higher than those of the PEG group,the differences were statistically significant(P＜0.05).The medication taste and patients satisfaction of the OSS group were significantly better than those of the PEG group,the differences were statistically significant(P＜0.05).There was no statistically significant difference in incidence of adverse reactions between the two groups(P=0.800).Conclusion Compared to PEG,OSS has a better intestinal cleaning effect,medication taste,and patients satisfaction.In addition,OSS has security that is not inferior to PEG.

Objective:To conduct a multi-center cross-sectional study of elderly patients with cognitive impairment based on real-world data; To analyze the clinical characteristics and core medication law of the disease population.Methods:The medical records of elderly patients diagnosed with cognitive impairment from January 1, 2016 to December 31, 2024 were retrieved from Chinese Evidence-based TCM Database. Excel 2010 software was used to collect general information, TCM syndrome elements and syndrome types, use frequency of Chinese materia medica, property, taste, meridian tropism, efficacy classification and other information, using PivotTable to establish Chinese materia medica matrix. IBM SPSS Modeler 18.0 software was used to display the frequency of co-occurrence among high-frequency Chinese materia medica, and the association rules were analyzed based on the Apriori algorithm. R language 4.4.1 was used for clustering analysis on Chinese materia medica and the cluster pedigree and correlation heat map were drawn.Results:A total of 1 194 elderly patients with cognitive impairment were enrolled, with a mean age of (79.51±7.65) years, and the highest frequency of comorbidities was hypertension (891 cases, 74.62%); AD was the most frequent diagnosis of cognitive impairment (367 times, 30.74%). The proportion of mild cognitive impairment in the low value group of Systemic Immune Inflammation Index (SII) was relatively high, and the high value group of SII was mainly vascular dementia and AD. Wind-phlegm blocking syndrome (106 times, 13.73%) topped the list; phlegm was the most frequent element of pathogenicity (353 times, 45.73%), and meridians and collaterals (194 times, 25.13%). Totally 328 prescriptions were included, involving 308 kinds of Chinese materia medica. The total recorded frequency of Chinese materia medica was 5 665, with tonifying herbs constituting the most frequently used category, accounting for 1 633 times; the medicinal property of drugs for treating elderly patients with cognitive disorders was mostly warm (103 times, 33.44%), the taste was mostly bitter (141 times, 45.78%), and attributed to the liver meridian (145 times, 47.08%); among the two and three association rules, the drug pairs with the highest confidence were Gastrodiae Rhizoma→Uncariae Ramulus cum Uncis (97.22%) and Hyperici Perforati Herba→Acanthopanacis Senticosi Radix et Rhizoma seu Caulis+Alpiniae Oxyphyllae Fructus (97.06%); five medicinal combinations were obtained by high frequency drug clustering analysis.Conclusions:Elderly patients with cognitive impairment are mainly diagnosed with AD. There may be a potential correlation between SII level and the progression of cognitive impairment. The drugs are used to tonify the kidney and replenish essence, detoxify and unblock collaterals, replenish qi and activate blood circulation, and awaken the brain and open the orifices. Shengmai Decoction, Renshen Yangrong Decoction and other TCM classic prescriptions can be used in clinic.

Objective:To investigate the efficacy of endoscopic sclerotherapy for internal hemorrhoids and its effects on patients' bowel function.Methods:A total of 111 patients who received endoscopic sclerotherapy at Xi'an No. 3 Hospital from September 2019 to August 2020 were retrospectively included in this study. Clinical efficacy, postoperative complications, perianal discomfort, and abnormal defecation were compared among patients with grade Ⅰ, Ⅱ, and Ⅲ internal hemorrhoids at 1, 4, 8, 12 weeks, and 6 months after surgery.Results:After 6 months of follow-up, the overall response rate was 77.48% (86/111), and the cure rate was 77.17% (79/111). The response rate and cure rate for rectal bleeding were 83.75% (67/80) and 80.00% (64/80), respectively. The response rate and cure rate for prolapse were 82.46% (47/57) and 75.44% (43/57), respectively. There were no statistically significant differences in the response rates and cure rates for rectal bleeding and prolapse symptoms among patients with grade Ⅰ, Ⅱ, and Ⅲ internal hemorrhoids at each follow-up time point (all P>0.05). Among the 111 patients, 27.93% (31/111) experienced perianal discomfort, and 40.54% (45/111) reported abnormal defecation. The incidences of perianal discomfort and abnormal defecation were not statistically significant among patients with grade Ⅰ, Ⅱ, and Ⅲ internal hemorrhoids (both P>0.05). In patients with gradeⅠ and Ⅱ internal hemorrhoids, perianal discomfort symptoms began to improve 4 weeks after surgery, while symptoms of abnormal defecation started to improve 1 week after surgery. Conclusions:Endoscopic sclerotherapy has a good clinical efficacy for rectal bleeding and prolapse symptoms in patients with grade Ⅰ, Ⅱ, and Ⅲ internal hemorrhoids. Additionally, it improves perianal discomfort and abnormal defecation by identifying the anal canal transition zone in patients with internal hemorrhoids.

Objective:To explore the current status and influencing factors of fatigue in patients with Cushing syndrome in China, so as to provide a basis for clinical interventions.Methods:Convenience sampling was used to select 260 inpatients with Cushing syndrome who met the inclusion and exclusion criteria in 9 ClassⅢ Grade A hospitals within the 7 geographic subregions of China from February to April 2023 for the study. General Information Questionnaire, the Chinese version of the Multidimensional Fatigue Inventory-20, Barthel Index, and Self-Rating Depression Scale were used for the survey.Results:A total of 260 questionnaires were distributed and 241 valid questionnaires were recovered, with an effective recovery rate of 92.7% (241/260). The MFI-20 score of 241 patients with Cushing syndrome was 58.00 (46.00, 64.00). 65.1% (157/241) of patients with Cushing syndrome suffered from fatigue, and 73.2% (115/157) of patients with fatigue exhibited multidimensional fatigue. Univariate analysis showed that there were statistically significant differences in fatigue scores among patients with Cushing syndrome with different cultural levels, recurrence frequency, activity of daily living, hypertension, and depression ( P<0.05). Multiple linear regression analysis showed that depression was a risk factor for fatigue in patients with Cushing syndrome, and the difference was statistically significant ( P<0.05) . Conclusions:Fatigue in patients with Cushing syndrome needs attention. Medical and nursing staff should pay close attention to the psychological status of patients with Cushing syndrome, encourage them to actively cope, alleviate their depression, in order to improve their fatigue.

Objective To observe the value of artificial intelligence ultrasound combined with serum hyaluronic acid synthase 2(HAS2)and trefoil factor-1(TFF1)for early diagnosis of breast cancer.Methods Totally 176 patients with suspected breast cancer were retrospective enrolled and divided into malignant group(n=50)and benign group(n=126)according to pathological results.Artificial intelligence ultrasound and convolutional neural network algorithms were used to automatically label suspicious breast lesions.The lesions were manually graded based on breast imaging reports and data systems,classifying 0-3 grades as benign lesions,4-5 grades as malignant lesions.Clinical data and artificial intelligence ultrasound manifestations were compared between groups.Receiver operating characteristic curve was drawn,the area under the curve(AUC)was calculated to evaluate the efficacy of HAS2,TFF1,artificial intelligence ultrasound and their combination for diagnosing breast cancer.Results HAS2,TFF1,as well as the proportions of abnormal glandular thickness,low-echo lesions and abnormal blood flow morphology in malignant group were all higher than those in benign group(all P＜0.001).AUC of serum HAS2,TFF1 and artificial intelligence ultrasound for diagnosing breast cancer was 0.772,0.754 and 0.859,respectively.The combined diagnostic efficacy of the above three(AUC=0.925)was higher than single diagnostic efficacy(all P＜0.05).Conclusion Artificial intelligence ultrasound combined with serum HAS2 and TFF1 had good efficacy for early diagnosis of breast cancer.

Objective:To analyze the factors influencing postoperative complications and survival in patients undergoing hepatectomy for primary liver cancer (PLC).Methods:Two hundred and eighty-eight patients with PLC who underwent hepatectomy at Tianjin Medical University Cancer Hospital from April 2018 to December 2020 were prospectively enrolled, including 235 males and 53 females, aged (58.5±9.5) years. Nutritional evaluations included the nutritional risk screening 2002 (NRS-2002), patient-generated subjective global assessment (PG-SGA), and physical metrics such as body mass index, handgrip strength, arm circumference, mid-arm muscle circumference (MAMC), and triceps skinfold thickness (TSF). Based on the occurrence of postoperative complications during hospitalization including abdominal infection, bleeding, bile leakage, intra-abdominal fluid accumulation, pulmonary infection, intestinal fistula, and wound dehiscence, patients were divided into two groups: the complication group ( n=205) and the non-complication group ( n=83). Multivariate logistic regression analysis was performed to identify the factors related to postoperative complications, while Cox proportional hazards regression was used to evaluate the impact of various variables on postoperative survival. Survival analysis was conducted using the Kaplan-Meier method, and differences in survival rates were compared using the log-rank test. Results:Compared with the non-complication group, patients in the complication group had a significantly longer postoperative hospital stay [13(8, 16) d vs. 7(5, 9) d], higher proportions of low MAMC [34.1% (24/83) vs. 20.0% (41/205)], lower grip strength [28.9% (24/83) vs. 17.6% (36/205)], higher incidence of intraoperative blood loss ≥200 ml [44.6% (37/83) vs. 22.0% (45/205)], and greater proportion of resection involving ≥3 liver segments [45.8% (38/83) vs. 26.3% (54/205)] (all P<0.05). Multivariate logistic regression analysis identified the low MAMC ( OR=2.01, 95% CI: 1.09-3.71, P=0.025), intraoperative blood loss ≥200 ml ( OR=2.75, 95% CI: 1.55-4.90, P=0.001), and resection involving ≥3 liver segments ( OR=2.02, 95% CI: 1.15-3.55, P=0.015) as independent risk factors for postoperative complications in patients undergoing hepatectomy for PLC. Multivariate Cox regression analysis revealed that low TSF ( HR=1.94, 95% CI: 1.01-3.72, P=0.047), low handgrip strength ( HR=2.23, 95% CI: 1.29-3.88, P=0.004), and resection involving ≥3 liver segments ( HR=1.96, 95% CI: 1.15-3.36, P=0.014) were risk factors associated with poor survival after surgery. Conclusions:Low MAMC, intraoperative blood loss ≥200 ml, and resection involving ≥3 liver segments are risk factors for postoperative complications in patients undergoing hepatectomy for PLC, while low TSF, reduced handgrip strength, and resection involving ≥3 liver segments are predictors of poor postoperative survival.