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 To construct a predictive model for cerebral small vessel disease (CSVD) MRI burden based on β2-microglobulin (β2-MG) and lipoprotein(a) [Lp(a)], analyze its predictive value, and validate the model. Methods A total of 138 CSVD patients admitted to Anhui No.2 Provincial People’s Hospital from February 2023 to August 2024 were enrolled. Patients were divided into a low-burden group (n=63) and a moderate/severe burden group (n=75) according to the CSVD MRI burden scoring criteria. The related clinical data were compared between the two groups. Binary logistic regression analysis was used to identify independent factors for CSVD moderate/severe MRI burden. A nomogram predictive model was constructed based on these factors and its performance was evaluated. Results The proportions of male patients, as well as those with a history of diabetes or hypertension, were significantly higher in the moderate/severe burden group than those in the low burden group. Additionally, the age of patients in the moderate/severe burden group was significantly older, and the levels of β2-MG, Lp(a), and homocysteine (Hcy) were higher than those in the low burden group (P＜0.01). Binary logistic regression analysis revealed that hypertension, diabetes, β2-MG, and Lp(a) were independent factors for CSVD moderate/severe MRI burden (P＜0.05). The nomogram predictive model based on these four factors had a cut-off value of 0.467 0, with an area under curve (AUC) of 0.838 7 (95%CI 0.760 8-0.916 6) in the training set (n＝97) and 0.854 1 (95%CI 0.742 1-0.966 1) in the internal validation set (n＝41) . The calibration curve demonstrated good agreement between predicted and observed values. Decision curve analysis (DCA) indicated that the nomogram model had good clinical utility. Conclusions The nomogram model based on β2-MG and Lp(a) has high predictive performance in assessing the risk of CSVD moderate/severe MRI burden, with good discrimination and calibration.

Objective: To analyze the serological characteristics of anti-Mur antibodies and investigate the distribution frequency of the Mur antigen among voluntary blood donors in Shiyan, thereby providing a basis for guiding clinical transfusion and establishing a Mur blood type database. Methods: ABO blood grouping of donors and patients was performed using an automated blood typing analyzer and the gel card method, respectively. Unexpected antibody screening and identification were performed using the saline, tube anti-human globulin, and polybrene methods. The specificity of anti-Mur antibodies was confirmed using Fisher's exact probability test. Plasma treated with 2-mercaptoethanol was used to distinguish IgM and IgG antibodies. IgM and IgG anti-Mur titers were determined by the saline tube method and the anti-human globulin tube method, respectively, at 4℃, room temperature, and 37℃. A total of 1 659 donor red blood cell samples were initially screened for the Mur antigen phenotype using three samples of human-derived anti-Mur plasma by the micro-tube method. Donors who tested positive for Mur antigen were further tested by the direct antiglobulin test (DAT); those with negative results were confirmed for Mur antigen by the gel card and polybrene methods. Results: Three blood samples were identified to contain mixed IgG and IgM anti-Mur antibodies. The titers of both IgM and IgG anti-Mur antibodies were highest at 4℃, intermediate at room temperature, and lowest at 37℃. The positive frequency of the Mur antigen among voluntary blood donors in Shiyan was 1.99% (33/1 659). Conclusion: anti-Mur antibodies were detected in both blood donors and patients in our region. The Mur antigen shows a certain distribution frequency among voluntary blood donors in Shiyan. Screening for the Mur blood type and establishing a corresponding database could enhance transfusion safety.

To explore the effect and mechanism of sodium propionate and mixed short-chain fatty acids on colitis induced by Citrobacter rodentium (C.r.) in mice. Mice were induced by oral gavage of C.r. The C.r. growth monitoring, histopathological analysis, qPCR analysis, intestinal permeability test and flow cytometry was used to study the effects of sodium propionate and mixed short-chain fatty acids on intestinal infection. The results showed that sodium propionate could inhibit the growth of C.r. more effectively than mixed short-chain fatty acids. Results of animal experiments showed that sodium propionate significantly reduced the weight loss and intestinal bacterial output in mice. Meanwhile, compared with mixed short chain fatty acids, sodium propionate effectively alleviated the pathological manifestations of colonic inflammatory infiltration, destruction of epithelial cell structure and decrease of goblet cell caused by C.r. infection, also increased the levels of antimicrobial peptides like interleukin-17 (IL-17) and regenerated islet derived protein 3γ (Reg3γ). In addition, sodium propionate decreased intestinal permeability better than mixed short-chain fatty acids, and sodium propionate significantly induced T helper cells 17 (Th17) and regulatory T cells (Treg) differentiation. The results showed that sodium propionate significantly alleviated colitis induced by C.r. infection compared with mixed short-chain fatty acids, which may be related to its inhibition of C.r. growth and enhancement of intestinal anti-infective function. The expected results can provide a safer and effective treatment strategy and scientific basis for colitis.

OBJECTIVE To observe the clinical efficacy of Erdong Xiaoke Formula in the treatment of type 2 diabetes dry eyes with yin deficiency and heat excess syndrome and its effect on serum interleukin 17(IL-17)and interleukin 1β(IL-1β),and to ex-plore the therapeutic mechanism of Erdong Xiaoke Formula.METHODS 110 cases of type 2 diabetes patients with dry eyes of yin deficiency and heat excess syndrome from Jiangsu Province Hospital of Chinese Medicine were enrolled and randomly divided into a treatment group and a control group,55 cases each.5 cases dropped out of the treatment group and 4 cases dropped out of the control group.The control group was given a basic hypoglycemic regimen combined with topical sodium hyaluronate eye drops.The treatment group was given Erdong Xiaoke Formula in addition to the treatment in the control group.The treatment course for both groups was 4 weeks.Changes in TCM syndrome scores of the two groups of patients were observed before and after treatment,and the clinical effica-cy of TCM was evaluated.Blood glucose and pancreatic islet function-related indicators[fasting blood glucose(FBG),fasting insulin(FINS),fasting C-peptide(FCP),postprandial 2 h blood glucose(PBG),insulin secretion function index(HOMA-β),insulin re-sistance index(HOMA)-IR)],ocular surface indicators[tear break up time(BUT),corneal sodium fluorescein staining(FL),Schirmer Ⅰ test(SⅠT)],and inflammation-related indicators(IL-17,IL-1β)were detected.The occurrence of adverse reactions in the two groups of patients was observed during the treatment period.RESULTS After treatment,the total scores of TCM syn-dromes in both groups were significantly reduced(P＜0.01),the treatment group was better than the control group(P＜0.01),and the total effective rate of TCM syndromes in the treatment group was higher than that of the control group(P＜0.01);SⅠT and BUT of pa-tients in both groups increased significantly(P＜0.01),and the treatment group was better than the control group(P＜0.05,P＜0.01);the FL of patients in both groups significantly reduced(P＜0.01),and there was no significant difference between the groups;the ser-um IL-17 and IL-1β of the patients in the treatment group decreased significantly(P＜0.01),which was significantly better than that of the control group(P＜0.05).There were no significant changes in blood glucose and pancreatic islet function-related indicators in the two groups before and after treatment(P＞0.05).During the treatment,no obvious adverse reactions were observed in the two groups.CONCLUSION Erdong Xiaoke Formula can improve SⅠT,BUT,FL and eye symptoms in patients with diabetic dry eye,effectively treat diabetic dry eye,and reduce ocular surface inflammation.Its mechanism may be related to reducing serum inflammato-ry factors IL-17 and IL-1β.

Objective:To determine the incidence of adrenal incidentalomas(AIs) in patients with diabetes mellitus and the metabolism profiles.Methods:A total of 615 hospitalized patients with diabetes mellitus in the Department of Endocrinology and Metabolism of Peking University People′s Hospital from March 2020 to May 2021 were retrospectively included in this study. AIs were screened by unenhanced chest computed tomography(CT) retrospectively and subsequently confirmed by multiplanar reconstruction. Participants′ physical indicators, metabolic profiles, and adrenal function parameters were collected. Unpaired t test, Mann-Whitney U test, and Chi-Square test were adopted to compare the metabolism profiles between diabetes mellitus patients with or without AIs. Regression models were used to estimate the correlations between AIs and the metabolism profiles such as blood glucose, blood lipids, blood pressure, and the adrenal function parameters.Results:Twenty-seven out of 615 participants were detected with AIs(4.4%). Patients with AIs had higher body mass index, waist circumference, and hip circumference than patients without AIs [(29.4±5.1)kg/m 2vs(26.8±3.8)kg/m 2,P=0.018; (102.3±11.7)cm vs(95.8±10.3)cm, P=0.002; (107.3±10.1)cm vs(101.4±7.6)cm, P=0.008]. The levels of serum uric acid and urinary albumin/creatinine ratio were also significantly increased in patients with AIs [(409.6±118.1)μmol/L vs(357.4±100.6)μmol/L, P=0.009; 21.25(7.49, 180.24)mg/g vs 8.60(4.71, 34.56)mg/g, P=0.010]. Besides, individuals with AIs were also associated with a higher risk of co-existing hypertension( P=0.045). Conclusion:The incidence of AIs in patients with diabetes is 4.4%. The presence of AIs in patients with diabetes may associated with increased risk of obesity and hypertension.

Objective:To explore the effect of comfort nursing intervention in hospice care for advanced cancer patients at home, and to provide reference for hospice care for advanced cancer patients at home.Methods:A randomized controlled trial was conducted. A total of 105 patients with advanced cancer who were treated in the Cancer Hospital Affiliated to Harbin Medical University from January to February 2023 were selected as the research objects. According to the random number table, they were divided into control group of 53 cases and intervention group of 52 cases. The control group received routine nursing methods, while the intervention group received comfort nursing interventions on this basis. The intervention lasted for 4 weeks. The changes in palliative care outcomes, quality of life and death anxiety were compared between the two groups before and after intervention.Results:Totally 105 cases were included, 53 cases in the control group and 52 cases in the intervention group. In the control group, there were 25 males, 28 females, aged (58.96 ± 10.71) years old; in the intervention group, there were 22 males, 30 females, aged (59.82 ± 10.53) years old. Before intervention, there was no statistically significant difference in palliative care outcomes, quality of life and cancer death anxiety scores between the two groups of patients (all P>0.05). After intervention, the total score of palliative care outcomes in the intervention group was (13.34 ± 5.88) points, significantly lower than (16.15 ± 5.72) points in the control group, with a statistically significant difference ( t = 2.48, P<0.05). The overall health status score of quality of life was (68.55 ± 9.34) points in the intervention group, higher than (63.01 ± 9.28) points in the control group ( t = 3.05, P<0.05). The total score of cancer death anxiety was (8.85 ± 2.72) points, significantly lower than (10.59 ± 3.14) points of the control group, with a statistically significant difference ( t = 3.04, P<0.05). Conclusions:The application of comfort nursing mode in home based hospice care can improve the quality of hospice care for advanced cancer patients, reduce their level of death anxiety, and is of great significance for improving the quality of life of advanced cancer patients.