Rare digestive diseases refer to rare disorders that primarily affect the digestive system.Currently,there is no standardized clinical classification system for these conditions,and physicians have low awareness of them.This leads to a high likelihood of missed diagnoses and misdiagnoses during the di-agnostic and treatment process,coupled with a scarcity of specific and effective therapeutic options,ulti-mately imposing a tremendous disease burden on patients.With the publication of China's first and second batches of rare disease catalogs,many rare digestive diseases have been progressively included,thereby enhancing awareness among clinicians and patients.The role of gastroenterologists in the multidisciplinary treatment(MDT)of rare diseases is becoming increasingly prominent.The advancement in the disciplinary construction and clinical research of rare digestive diseases,the ongoing implementation of the MDT,and the establishment of multidisciplinary teams for rare digestive diseases collectively enhance the diagnostic and therapeutic capabilities for rare digestive diseases and lay a solid foundation for large-scale,high-quality clinical research.

Rare small intestinal diseases are characterized by a broad disease spectrum,non-specific clinical manifestations,and relatively limited diagnostic modalities,which significantly hinder early diagnosis and treatment.Meanwhile,the subspecialty development of rare digestive diseases lags behind,with insufficient physician awareness and a scarcity of experienced multidisciplinary collaborative teams,further exacerbating the difficulties in disease management.In recent years,advancements in gene testing technologies,along with con-tinuous refinements in imaging and endoscopic techniques,have substantially improved the diagnostic and ther-apeutic landscape for rare small intestinal diseases.This article outlines the difficulties and challenges in diag-nosing and treating these conditions,and reviews the evolving applications of common diagnostic and therapeutic approaches across various rare small intestinal diseases.

Objective:To evaluate the efficacy and safety of Saccharomyces boulardii ( S. boulardii) as an adjuvant therapy for ulcerative colitis (UC). Methods:Databases including PubMed, Embase, Web of Science, Cochrane Library, Chinese Biomedical Literature Database, CNKI, Wanfang Database, and Chongqing VIP Chinese Science and Technology Journal Database were retrieved from their inception to September 1, 2023. Randomized controlled trials (RCTs) about S. boulardii as an adjuvant therapy for UC were included. The intervention method was S. boulardii monotherapy or as an adjunct to other medications ( Saccharomyces group), while the control group received other medications. The risk of bias of the included studies was assessed by the Cochrane risk of bias assessment tool (RoB 2.0). Primary outcome indicators included overall efficacy, clinical remission rate, and endoscopic remission rate. Secondary outcome indicators included Baron score, Sutherland disease activity index, indicators of intestinal mucosal barrier function, levels of inflammatory cytokines, and overall adverse events. RevMan 5.3 software was used for statistical analysis. RR and MD were taken as effect indicators of count data and measurement data, respectively. Results:A total of 26 RCTs were included, all from China. Among them, 22 studies reported the overall efficacy in UC patients. The results indicated that the overall efficacy of Saccharomyces group was higher than that of the control group (93.5%(943/1 009) vs. 76.8%(771/1 004)), and the difference was statistically significant ( RR=1.20, 95% confidence interval (95% CI): 1.16 to 1.25, P<0.001). And 9 studies assessed the efficacy in patients with mild or moderate UC. The results showed that the clinical remission rate and endoscopic remission rate of Saccharomyces group were both higher that those of the control group (68.1%(581/853) vs. 53.1%(455/857); 54.9%(425/774) vs. 35.5%(273/769)), and the differences were statistically significant ( RR=1.21, 95% CI: 1.14 to 1.25, P<0.001; RR=1.49, 95% CI: 1.28 to 1.73, P<0.001). S. boulardii as an adjunctive therapy could significantly lower the Baron score in patients with UC (7 studies) and mild to moderate UC (5 studies) ( MD=-0.51, 95% CI: -0.68 to -0.33; MD=-0.50, 95% CI: -0.75 to -0.26; both P<0.001). Additionally, S. boulardii as an adjunctive therapy could significantly decrease the Sutherland disease activity index in patients with UC (6 studies) and mild to moderate UC (3 studies), and the differences were statistically significant ( MD=-1.50, 95% CI: -2.26 to -0.74; MD=-0.92, 95% CI: -1.16 to -0.69; both P<0.001). Compared with the control group, S. boulardii as an adjunctive therapy significantly improved intestinal mucosal barrier function and decreased inflammatory cytokine levels in patients with UC and patients with mild to moderate UC (all P<0.05), such as D-lactate ( MD=-2.44, 95% CI: -4.43 to -0.45; MD=-1.47, 95% CI: -2.03 to -0.91), Geboes index ( MD=-0.40, 95% CI: -0.46 to -0.35; MD=-0.39, 95% CI: -0.46 to -0.32), C-reactive protein ( MD=-3.70, 95% CI: -5.65 to -1.76; MD=-3.36, 95% CI: -5.07 to -1.64), and tumor necrosis factor-α levels ( MD=-7.64, 95% CI: -11.27 to -4.01; MD=-7.75, 95% CI: -12.25 to -3.25). There was no statistically significant difference in the incidence of adverse events between Saccharomyces group and the control group (13 studies) (7.8%(47/602) vs. 10.9%(65/596)), RR=0.75, 95% CI: 0.52 to 1.09, P=0.130). Conclusions:The additional use of S. boulardii in the treatment of UC. It can improve the clinical remission rate, alleviate intestinal inflammation, promote the recovery is safe of the injury in intestinal mucosal barrier.

Objective:To investigate the clinical and endoscopic characteristics of patients with autoimmune gastritis (AIG).Methods:From January 1, 2013 to December 31, 2023, 73 AIG patients who visited Peking Union Medical College Hospital were retrospectively enrolled. The clinical data of all the patients were analyzed, including gender, age, symptoms, laboratory examination results (such as serum hemoglobin, vitamin B 12, serum iron, gastrin, anti-parietal cell antibody (APCA), anti-intrinsic factor antibody (AIFA), Helicobacter pylori ( HP) infection status; the indicators were judged based on the normal reference value), and endoscopic and histopathological examination results. Descriptive statistical methods were used for statistical analysis. Results:Among the 73 AIG patients, there were 27 males (37.0%) and 46 females (63.0%), with a median age of 57 years old (ranged from 25 to 85 years old). Among the 73 AIG patients, 68 patients received APCA test, with a positivity rate of 88.2% (60/68); 67 patients took the AIFA test, with a positivity rate of 52.2%(35/67); 62 patients underwent both APCA and AIFA tests, of which 22 patients (35.5%) showed double positive. Serum level of vitamin B 12 was detected in 59 patients, and decreased in 27 cases (median level: 0.100 ng/L, mean level: 0.102 ng/L). Gastrin level was detected in 58 patients, and increased in 55 cases (median level: 0.930 ng/L, mean level: 1.203 ng/L). The levels of serum iron and ferritin were tested in 52 patients, the level of serum iron of 5 cases decreased, and the level of ferritin of 17 cases decreased (median level: 780.0 and 26.0 μg/L, mean level: 807.8 and 76.0 ng/L, respectively).Among the 73 AIG patients, the urea breath test was performed in 12 patients, and the result was positive in 6 cases. Endoscopic rapid urease test was performed in 69 patients, and the result was positive in 11 cases (15.9%). Regular blood analysis was performed in 71 patients, 24 cases (33.8%) were diagnosed with anemia, the median age of patients with anemia was 55 years old, and male-to-female ratio was 1∶5. There were 6 cases of iron-deficiency anemia and 5 cases of pernicious anemia. The endoscopic examination results of 73 patients indicated that 65 cases (89.0%) with mucosal atrophy under endoscopy, including 47 cases (64.4%) with mucosal atrophy in the gastric fundus and body, and 18 cases (24.7%) with whole gastric atrophy, more obviously in the gastric body. The pathological examination results showed type Ⅰ gastric neuroendocrine tumor(g-NET) in 35 cases (47.9%). Conclusions:The early clinical symptoms of AIG patients are nonspecific, often present with anemia and vitamin B 12 deficiency. Close monitoring of serological markers including APCA, AIFA and gastrin is essential. For patients diagnosed or suspected with AIG, intervals of endoscopic surveillance should be shortened to prevent the genesis and development of neoplasms such as g-NET.

Objective To analyze and compare the diagnostic criteria of dampness syndrome in clinical studies and construct a dampness syndrome entry pool,so as to provide theoretical support for the development of dampness-related scales,and then provide reference for clinical research.Methods By searching the literature collected by CNKI,VIP and Wanfang data database from 1960 to 2023,the clinical research literature of dampness syndrome was searched and screened,and the diagnostic criteria of dampness syndrome were summarized and analyzed.Results A total of 7651 articles were retrieved from the above database,and 52 articles were finally included.9 diagnostic criteria were obtained by combining the screening of teaching materials.They are The National Standard of Chinese Medicine Clinical Diagnosis and Treatment of Chinese Medicine(GB/T16751.2-1997),Syndrome element differentiation,Traditional Chinese Medicine Syndrome Standards,Traditional Chinese Medicine Syndrome Differentiation and Diagnosis,Diagnostics of Traditional Chinese Medicine(Fifth edition,sixth edition,second edition of the new century,People's Health Commission edition,and tenth edition of the National Higher Traditional Chinese Medicine College Planning Textbook).The diagnostic methods can be divided into three kinds:narrative method,primary and secondary disease(or see disease)classification diagnosis method,and assigning method.There are a total of 36 symptom components,which can be divided into four groups:the accumulation of muscle and striae group,the obstruction of meridians and joints group,the internal accumulation of organs group,and the dampness and obstruction of orifices group.The National Standard of Chinese Medicine Clinical Diagnosis and Treatment of Chinese Medicine(GB/T16751.2-1997)has been cited for a maximum of 22 times,covering 16 diseases.Conclusion The National Standard of Chinese Medicine Clinical Diagnosis and Treatment of Chinese Medicine is the most widely used in clinical research,and the new version of national standard in 2021 is more suitable for the current diagnosis and clinical research of dampness syndrome.

Objective:To evaluate the efficacy and safety of Saccharomyces boulardii ( S. boulardii) as an adjuvant therapy for ulcerative colitis (UC). Methods:Databases including PubMed, Embase, Web of Science, Cochrane Library, Chinese Biomedical Literature Database, CNKI, Wanfang Database, and Chongqing VIP Chinese Science and Technology Journal Database were retrieved from their inception to September 1, 2023. Randomized controlled trials (RCTs) about S. boulardii as an adjuvant therapy for UC were included. The intervention method was S. boulardii monotherapy or as an adjunct to other medications ( Saccharomyces group), while the control group received other medications. The risk of bias of the included studies was assessed by the Cochrane risk of bias assessment tool (RoB 2.0). Primary outcome indicators included overall efficacy, clinical remission rate, and endoscopic remission rate. Secondary outcome indicators included Baron score, Sutherland disease activity index, indicators of intestinal mucosal barrier function, levels of inflammatory cytokines, and overall adverse events. RevMan 5.3 software was used for statistical analysis. RR and MD were taken as effect indicators of count data and measurement data, respectively. Results:A total of 26 RCTs were included, all from China. Among them, 22 studies reported the overall efficacy in UC patients. The results indicated that the overall efficacy of Saccharomyces group was higher than that of the control group (93.5%(943/1 009) vs. 76.8%(771/1 004)), and the difference was statistically significant ( RR=1.20, 95% confidence interval (95% CI): 1.16 to 1.25, P<0.001). And 9 studies assessed the efficacy in patients with mild or moderate UC. The results showed that the clinical remission rate and endoscopic remission rate of Saccharomyces group were both higher that those of the control group (68.1%(581/853) vs. 53.1%(455/857); 54.9%(425/774) vs. 35.5%(273/769)), and the differences were statistically significant ( RR=1.21, 95% CI: 1.14 to 1.25, P<0.001; RR=1.49, 95% CI: 1.28 to 1.73, P<0.001). S. boulardii as an adjunctive therapy could significantly lower the Baron score in patients with UC (7 studies) and mild to moderate UC (5 studies) ( MD=-0.51, 95% CI: -0.68 to -0.33; MD=-0.50, 95% CI: -0.75 to -0.26; both P<0.001). Additionally, S. boulardii as an adjunctive therapy could significantly decrease the Sutherland disease activity index in patients with UC (6 studies) and mild to moderate UC (3 studies), and the differences were statistically significant ( MD=-1.50, 95% CI: -2.26 to -0.74; MD=-0.92, 95% CI: -1.16 to -0.69; both P<0.001). Compared with the control group, S. boulardii as an adjunctive therapy significantly improved intestinal mucosal barrier function and decreased inflammatory cytokine levels in patients with UC and patients with mild to moderate UC (all P<0.05), such as D-lactate ( MD=-2.44, 95% CI: -4.43 to -0.45; MD=-1.47, 95% CI: -2.03 to -0.91), Geboes index ( MD=-0.40, 95% CI: -0.46 to -0.35; MD=-0.39, 95% CI: -0.46 to -0.32), C-reactive protein ( MD=-3.70, 95% CI: -5.65 to -1.76; MD=-3.36, 95% CI: -5.07 to -1.64), and tumor necrosis factor-α levels ( MD=-7.64, 95% CI: -11.27 to -4.01; MD=-7.75, 95% CI: -12.25 to -3.25). There was no statistically significant difference in the incidence of adverse events between Saccharomyces group and the control group (13 studies) (7.8%(47/602) vs. 10.9%(65/596)), RR=0.75, 95% CI: 0.52 to 1.09, P=0.130). Conclusions:The additional use of S. boulardii in the treatment of UC. It can improve the clinical remission rate, alleviate intestinal inflammation, promote the recovery is safe of the injury in intestinal mucosal barrier.

Objective:To investigate the clinical and endoscopic characteristics of patients with autoimmune gastritis (AIG).Methods:From January 1, 2013 to December 31, 2023, 73 AIG patients who visited Peking Union Medical College Hospital were retrospectively enrolled. The clinical data of all the patients were analyzed, including gender, age, symptoms, laboratory examination results (such as serum hemoglobin, vitamin B 12, serum iron, gastrin, anti-parietal cell antibody (APCA), anti-intrinsic factor antibody (AIFA), Helicobacter pylori ( HP) infection status; the indicators were judged based on the normal reference value), and endoscopic and histopathological examination results. Descriptive statistical methods were used for statistical analysis. Results:Among the 73 AIG patients, there were 27 males (37.0%) and 46 females (63.0%), with a median age of 57 years old (ranged from 25 to 85 years old). Among the 73 AIG patients, 68 patients received APCA test, with a positivity rate of 88.2% (60/68); 67 patients took the AIFA test, with a positivity rate of 52.2%(35/67); 62 patients underwent both APCA and AIFA tests, of which 22 patients (35.5%) showed double positive. Serum level of vitamin B 12 was detected in 59 patients, and decreased in 27 cases (median level: 0.100 ng/L, mean level: 0.102 ng/L). Gastrin level was detected in 58 patients, and increased in 55 cases (median level: 0.930 ng/L, mean level: 1.203 ng/L). The levels of serum iron and ferritin were tested in 52 patients, the level of serum iron of 5 cases decreased, and the level of ferritin of 17 cases decreased (median level: 780.0 and 26.0 μg/L, mean level: 807.8 and 76.0 ng/L, respectively).Among the 73 AIG patients, the urea breath test was performed in 12 patients, and the result was positive in 6 cases. Endoscopic rapid urease test was performed in 69 patients, and the result was positive in 11 cases (15.9%). Regular blood analysis was performed in 71 patients, 24 cases (33.8%) were diagnosed with anemia, the median age of patients with anemia was 55 years old, and male-to-female ratio was 1∶5. There were 6 cases of iron-deficiency anemia and 5 cases of pernicious anemia. The endoscopic examination results of 73 patients indicated that 65 cases (89.0%) with mucosal atrophy under endoscopy, including 47 cases (64.4%) with mucosal atrophy in the gastric fundus and body, and 18 cases (24.7%) with whole gastric atrophy, more obviously in the gastric body. The pathological examination results showed type Ⅰ gastric neuroendocrine tumor(g-NET) in 35 cases (47.9%). Conclusions:The early clinical symptoms of AIG patients are nonspecific, often present with anemia and vitamin B 12 deficiency. Close monitoring of serological markers including APCA, AIFA and gastrin is essential. For patients diagnosed or suspected with AIG, intervals of endoscopic surveillance should be shortened to prevent the genesis and development of neoplasms such as g-NET.

OBJECTIVE To re-evaluate the use of systematic evaluation/meta-analysis of anti-VEGF drugs in the treatment of diabetic macular oedema(DME),aiming to provide evidence-based support for the clinical application of this medication.METHODS A comprehensive search was conducted across a range of databases,including CNKI,Wanfang data,VIP,CBM,PubMed,Web of Science,Embase,and Cochrane Library.The objective was to identify systematic evaluation/meta-analysis of anti-VEGF drugs for DME,with search time from the inception of the databases to March 2024.The report quality,methodological quality,and evidence quality were assessed by using PRISMA2020 statement,AMSTAR2 scale and GRADE tool.A comprehensive analysis of systematic evaluation/meta-analysis results was also conducted.RESULTS A total of 22 articles were included.According to the PRISMA2020 statement evaluation,13 studies provided relatively complete information(≥21 points),while 9 studies had information deficiencies(18-＜21 points).The AMSTAR 2 scale evaluation revealed that 21 studies had very low methodological quality,and one study had low methodological quality.The GRADE tool evaluation showed that out of 89 outcome indicators,28(31.46%)were classified as high-quality evidence,34(38.20%)as moderate-quality evidence,24(26.97%)as low-quality evidence,and 3(3.37%)as very low-quality evidence.The comprehensive quality analysis results demonstrated that,compared with laser photocoagulation,anti-VEGF drugs significantly enhanced the improvement in best-corrected visual acuity(BCVA),as well as significant change in retinal thickness at 1 and 6 months,and 1 and 2 years post-treatment,and also in BCVA and retinal thickness at 1,3,and 6 months post-treatment(P＜0.05).Compared with placebo,patients treated with anti-VEGF drugs showed significant improvement in BCVA after 1 year of treatment(P＜0.05).However,when compared with corticosteroid drugs,patients treated with anti-VEGF drugs exhibited a significant increase in retinal thickness after 6 months of treatment(P＜0.05).Compared with corticosteroid drugs,the incidence of adverse events related to the eyes,cataract formation and intraocular pressure were significantly decreased in patients treated with anti-VEGF drugs(P＜0.05).Compared with laser photocoagulation,the incidence of ocular adverse events was significantly decreased in patients treated with anti-VEGF drugs,while the incidence of fatal adverse events was significantly increased(P＜0.05).CONCLUSIONS Anti-VEGF therapy for DME may possess certain advantages in terms of efficacy and safety,but it is associated with a higher risk of fatal adverse events;the evidence included in systematic reviews/meta-analyses is of moderate to high quality.

Objective:To investigate the prevalence and risk factors of overweight and obesity among Chinese children aged 3-18 years from 11 provinces, antonomous regions, or municipalities.Methods:This national cross-sectional community health survey utilized a multistage stratified cluster-random sampling method to recruit 193 997 nationally representative participants from 11 provinces, autonomous regions, or municipalities between January 2017 and December 2019. All participants underwent physical examinations, and their caregivers completed questionnaires assessing participants′ dietary, lifestyle, familial, and perinatal information. Multilevel multinomial logistic regression models were employed to identify the potential risk factors.Results:The cohort comprised 193 997 children (102 178 boys, 91 819 girls),aged (10±4) years. Overall prevalence rates were 30 574(15.8%)overweight children and 17 217(8.9%) obesity children. Boys exhibited higher overweight and obesity rates than girls (17.0% (17 368/102 178) vs. 14.4% (13 206/102 178), 11.3% (11 553/91 819) vs. 6.2% (5 664/91 819), χ2=249.12,1 578.69,both P<0.001). The detection rates of obesity in Tanner stage 2 and 3 were the highest in boys and girls, with 13.4%(2 231/16 665) and 8.6%(880/10 221) respectively. Risk factors for obesity included parental overweight (paternal OR=2.34 and maternal OR=2.29), annual household income of 100 000-200 000 yuan (compared with<100 000 yuan, OR=1.04), higher paternal education (compared with below high school,high school and a college education OR=1.09,1.14), birth weight >4.0 kg (≤5 and>5 years old OR=1.74, 1.44,respectively), and western food consumption≥1 time/month (compared with<1, 1-2, 3-4,>4 times/month OR=1.36, 1.30, 1.67(≤5 years), 1.19, 1.16, 1.15 (>5 years), respectively) (all P<0.05). Conversely, coarse grain intake≥1 times/week (compared with<1 times/week, every day, 3-4, 1-2 times/week OR=0.74, 0.80, 0.71 (≤5 years), 0.75, 0.87, 0.90(>5 years), respectively, all P<0.05) was associated with reduced obesity risk. Conclusions:Obesity epidemiology in children demonstrates significant heterogeneity across age, gender, geographic regions, and pubertal stages. It is necessary to establish a personalized prevention and control strategy.

Objective:To validate and optimize the interpretation methods and cut-off values of prolonged activated partial thromboplastin time (APTT) mixing test, in order to elevate the clinical applicational value in differentiating single factor deficiency, positive lupus anticoagulant (LA) and FⅧ inhibitors.Methods:This cross-sectional retrospective study involved 130 cases with single APTT prolongation for unknown reasons who underwent mixing tests in the First Hospital of Jilin University from January 1st, 2022 to December 31st, 2023, including 84 males and 46 females. Rosner index (RI), Percentage correction ("Chang") method, Normal reference interval (NRI) method, differential analysis, post-incubation prolongation time and percentage (including mixed immediately and ) were respectively calculated and analyzed for both immediate mixing and 2-hour post-mixing incubation. According to clinical diagnosis, patients were divided into single factor deficiency (51 cases), positive lupus anticoagulant (LA) (56 cases), and positive factor Ⅷ (FⅧ) inhibitor (23 cases). Receiver operation characteristic (ROC) curve analysis was used to determine the cut-off values for APTT mixing test methods in patients with different reasons for prolonged APTT, which were evaluted and adjusted by AUC, sensitivity, and specificity, and compared with the methods currently used for interpretations.Results:For the single factor deficiency cases, the AUCs of immediate RI index <7.5% and incubated RI index <13.9% were 0.87 and 0.90, respectively, with sensitivities at 87.8% and 83.8%, and specificities at 72.0% and 80.0%, whose combination had sensitivity and specificity at 87.3%, and 94.0%, respectively; the judging accuracy increased from 84.6% (110/130) in currently used rule to 93.1% (121/130). For the positive lupus anticoagulant (LA) cases, the combination of immediate RI index >10.3% and prolonged post-incubation clotting time percentage <9.1% showed 88.5% sensitivity and 99.8% specificity; the judging accuracy improved from 80.0% (104/130) in currently used rule to 86.2% (112/130). For positive FⅧ inhibitor cases, the combination of incubated RI index >17.0% and prolonged post-incubation clotting time percentage >9.1% had 99.8% sensitivity and 100.0% specificity; the judging accuracy increased from 89.2% (116/130) in currently used rule to 94.6% (123/130).Conclusion:This study validated and optimized the interpretation methods and cut-off values for the prolonged APTT mixing test in differentiating single factor deficiencies, prositive FⅧ inhibitors and LA positive cases, significantly improving the judging sensitivity and specificity.