Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Objective This study aims to explore effective approaches for the transfer of medical scientific and techno-logical achievements to promote the development of research-oriented hospitals.Methods The technology transfer achievements of an affiliated hospital of a university in Guangdong Province over the past six years(2018-2023)were statistically analyzed.The challenges faced during the transfer process,the measures taken,and the current achievements were discussed.Results The number of patent authorizations and authorized departments in the hospital has increased year by year.The transfer rate has risen from 0％in 2019 to 6.69％in 2023.Currently,46 projects have been successfully transferred,with a total transfer amount exceeding 30 million yuan,indicating significant effectiveness in the transfer of medical scientific and technological achievements.Conclusion The hospital attaches great importance to and overall manages the transfer process,establishing a sound manage-ment structure,improving incentive and support systems,and regularly conducting special lectures,training,and guidance.These efforts guide researchers to start from clinical problems and ultimately serve clinical diagnosis and treatment,creating a fa-vorable environment for technology transfer,improving the transfer rate,and promoting the development of research-oriented hos-pitals.

ObjectiveTo investigate the feasibility and safety of endoscopic retrograde cholangiopancreatography （ERCP） combined with oral cholangiopancreatography in the treatment of major duodenal papilla gallbladder polyps. MethodsA retrospective analysis was performed for the clinical data of eight patients with choledocholithiasis and gallbladder polyps who underwent ERCP and combined with oral cholangiopancreatography for major duodenal papilla cholecystectomy in Center of Digestive Endoscopy， Jilin People’s Hospital， from May 2022 to June 2024， and related data were collected， including the success rate of surgery， the technical success rate of gallbladder polyp removal， the superselective method of cystic duct， the time of operation， the time of gallbladder polyp removal， and surgical complications. ResultsBoth the success rate of surgery and the technical success rate of gallbladder polyp removal reached 100%， and of all eight patients， three patients used guide wire to enter the gallbladder under direct view， while five patients received oral cholangiopancreatography to directly enter the gallbladder. The time of operation was 51.88±12.34 minutes， and the time of gallbladder polyp removal was 23.13±10.94 minutes. The diameter of gallbladder polyp was 2‍ ‍—‍ ‍8 mm， and pathological examination showed inflammatory polyps in three patients， adenomatous polyps in one patient， and cholesterol polyps in four patients. There were no complications during or after surgery. The patients were followed up for 2‍ ‍—‍ ‍27 months after surgery， and no recurrence of gallbladder polyp was observed. ConclusionOral cholangiopancreatography is technically safe and feasible in endoscopic major duodenal papilla cholecystectomy.

Nine novel compounds, comprising seven tetrahydroanthraquinones (auxarthrolones A-G, 1-7), a γ-butenolide glycoside (malfilamentoside E, 26), and a γ-butenolide (auxarthrolide A, 27), together with eighteen known compounds (8-25) were isolated from rice-based solid culture of Auxarthron umbrinum (A. umbrinum) DSM3193 using the one strain many compounds (OSMAC) approach. The structural elucidation of these compounds was accomplished through nuclear magnetic resonance (NMR), mass spectrometry (MS), and NMR calculation combined with DP4+ analysis or MAEΔΔδ parameter, while the absolute configurations of new compounds were established through single-crystal X-ray diffraction, electronic circular dichroism (ECD) spectroscopic data analysis and/or chemical derivatization. Austrocortilutein (10) and auxarthrol H (14) demonstrated moderate cytotoxicity against U87 and U251 [half maximal inhibitory concentration (IC₅₀) 3.5-12.1 μmol·L^-1]. Additionally, auxarthrolone A (1), auxarthrol H (14), eupolyphagin B (15), and 7-hydroxy-2-(2-hydroxypropyl)-5-methylchromone (17) exhibited torsional effects on fibroblast proliferation challenges induced by oleic acid, thus demonstrating fibroblast proliferation-promoting activity.
4-Butyrolactone/pharmacology* ; Molecular Structure ; Anthraquinones/pharmacology* ; Humans ; Animals ; Mice ; Cell Line, Tumor ; Magnetic Resonance Spectroscopy

Objective To investigate the prevalence of food intolerance among children in Zhuzhou area and its relationship with age,gender,systemic diseases,and food allergies,so as to provide a basis for the scientific adjustment of children's dietary structure.Methods A retrospective analysis was conducted on totally 1 592 children who underwent food intolerance and food allergen testing in the hospital,the positive rate and distri-bution of 14 kinds of food intolerance were assessed,and their correlation with various factors was analyzed.Results Among 14 kinds of food tested,milk and eggs had the highest positive rates of intolerance,at 82.22％and 55.78％,respectively.The majority of children were intolerant to 1 to 2 kinds of food,with a de-creasing trend in the number of children intolerant to multiple kinds of food.Among the 14 types of food,ex-cept for mushrooms and pork,there were statistically significant differences in the distribution of negative,mild,moderate,and severe intolerance in other foods(P＜0.05).Children tended to have moderate or even se-vere intolerance to milk and eggs,while they tended to have mild intolerance to other foods.There was no sta-tistically significant difference in the overall food intolerance rate between boys and girls(P=0.654),but the positive rate of tomato intolerance in girls was slightly higher than that in boys(P=0.043).Except for pork,there were statistically significant differences in the positive rates of intolerance to 14 different foods among different age groups(P＜0.05).The positive rates of intolerance to cod,mushrooms,and crabs increased with age,while the positive rates of intolerance to beef decreased with age.There was a statistically significant difference in the positive rate of milk intolerance between healthy children and children with skin allergies(P＜0.05).There was a statistically significant difference in the proportion of individuals who were tolerant and not allergic to milk compared to hose who were intolerant and allergic to milk(P＜0.05).There was a statistically significant difference in the proportion of individuals who were tolerant and not allergic to eggs compared to those who were intolerant and allergic to eggs(P＜0.05).Conclusion The positive rate of food intolerance among children in Zhuzhou area is relatively high,with milk and eggs being the main intolerant foods.There are differences in the positive rate of intolerance among different gender and age groups,and in-tolerance to milk and eggs is associated with food allergies to some extent.

Acute liver injury (ALI) serves as a critical precursor and major etiological factor in the progression and ultimate manifestation of various hepatic disorders. The prevention and treatment of ALI is still a serious global challenge. Given the limited therapeutic options for ALI, exploring novel targeted therapeutic agents becomes imperative. The potential therapeutic efficacy of inhibiting RIPK2 is highlighted, as it may provide significant benefits by attenuating the MAPK pathway and NF-κB signaling. Herein, we propose a CMD-OPT model, a two-stage molecular optimization tool for the rapid discovery of RIPK2 inhibitors with optimal properties. Compound RP20, which targets the ATP binding site, demonstrated excellent kinase specificity, ideal oral pharmacokinetics, and superior therapeutic effects in a model of APAP-induced ALI, positioning RP20 as a promising preclinical candidate. This marks the first application of RIPK2 inhibitors in ALI treatment, opening a novel therapeutic pathway for clinical applications. These results highlight the efficacy of the CMD-OPT model in producing lead compounds from known active molecules, showcasing its significant potential in drug discovery.

Objective:To compare the efficacy and safety differences between direct mechanical thrombectomy (abbreviated as direct thrombectomy) and bridging therapy in patients with acute anterior circulation large vessel occlusion and atrial fibrillation.Methods:A retrospective collection of data was conducted for hospitalized patients who underwent mechanical thrombectomy due to acute anterior circulation large vessel occlusion with atrial fibrillation at the First Affiliated Hospital of Soochow University and Suzhou Kowloon Hospital, Shanghai Jiao Tong University School of Medicine from January 1, 2018 to December 31, 2022. Patients were divided into direct thrombectomy and bridging therapy groups based on whether intravenous thrombolysis was used, and the clinical outcomes and safety indicators of the two groups were compared. The primary clinical outcomes included the modified Rankin Scale (mRS) score at 90 days and the proportion of patients with neurological independence at 90 days (the proportion of patients with mRS scores of 0-2). Safety indicators included 90-day mortality rate, intracranial hemorrhage rate, symptomatic intracranial hemorrhage [deterioration of neurological function and an increase of ≥4 points in the National Institutes of Health Stroke Scale (NIHSS) score] rate, and pneumonia incidence. Using the 90-day prognosis as a dependent variable, a binary Logistic regression analysis was conducted to investigate the factors influencing poor prognosis in patients at 90 days.Results:Among the 534 screened patients, 125 were included in the study, with 74 in the direct thrombectomy group and 51 in the bridging therapy group. The difference in the mRS scores at 90 days between the direct thrombectomy group and the bridging therapy group was not statistically significant [2 (0, 3) vs 3 (1, 3), Z=-1.444, P=0.149]. The difference in the proportion of patients with independent neurological function at 90 days [66.2% (49/74) vs 47.1% (24/51), χ2=4.561, P=0.033] was statistically significant between the 2 groups. The 90-day mortality rate [5.4% (4/74) vs 9.8% (5/51), χ 2=0.936, P=0.483], the intracranial hemorrhage rate [17.6% (13/74) vs 29.4% (15/51), χ 2=2.437, P=0.119], the symptomatic intracranial hemorrhage rate [12.2% (9/74) vs 23.5% (12/51), χ 2=2.791, P=0.095], and the pneumonia incidence [59.5% (44/74) vs 56.9% (29/51), χ 2=0.084, P=0.772] between the 2 groups showed no statistically significant differences (all P>0.05). The time from admission to puncture was 97 (74, 122) min and 150 (127, 168) min for the direct thrombectomy and bridging therapy groups, respectively, with a statistically significant difference ( Z=-5.846, P<0.001). Binary Logistic regression analysis showed that venous thrombolysis (adjusted OR=3.004, 95% CI 1.057-8.539, P=0.039), NIHSS score at onset (adjusted OR=1.096, 95% CI 1.009-1.191, P=0.030), and pneumonia (adjusted OR=12.814, 95% CI 3.775-43.499, P<0.001) were associated with poor prognosis at 90 days. Conclusion:For patients with acute anterior circulation large vessel occlusion and atrial fibrillation, direct thrombectomy can increase the proportion of neurological independence at 90 days compared to bridging therapy, with no statistically significant differences in safety indicators, which may be related to the shorter time from admission to puncture in the direct thrombectomy group.