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 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 investigate the mechanism of interleukin-22(IL-22) induced the secretion of vas-cular endothelial growth factor A(VEGF-A) in gastric cancer cell line AGS .Methods Gastric cancer cell line AGS were cultured in vitro ,and recombination cytokine IL-22 were added ,or signal pathway inhibitor were pre-incubated with AGS for 1 hour and then IL-22 were added ,the level of VEGF-A were detected by enzyme-linked immunosorbent assay .Results Compared with the unstimulated group ,the secretion of VEGF-A in IL-22-stimulated group was significantly increased ,the difference was statistically significant (P＜0 .05) ,which was in a dose and time dependent manner .In addition ,IL-22-stimulated the secretion of VEGF-A by AGS was significantly decreased while pre-incubated by the signal transducers and activators of transcription 3(STAT3) inhibitor ,the difference was statistically significant (P＜0 .05) ,but such effect was not observed while AGS were pre-incubated with the nuclear factor kappa B inhibitor ,c-Jun N-terminal kinase inhibitor ,mitogen-acti-vated protein kinase kinase 1/2 inhibitor and p38 mitogen-activated protein kinase inhibitor ,there was no sta-tistical significance(P＞0 .05) .Conclusion IL-22 could induce the secretion of VEGF-A in gastric cancer cell line AGS via STAT3 signal pathway ,which may contribute to tumor progression .

Objective To evaluate the efficacy of fexofenadine hydrochloride tablets at tapering doses for the treatment of chronic spontaneous urticaria. Methods After receiving evaluation of medical history and undergoing autologous serum skin test (ASST), 80 patients with chronic spontaneous urticaria were randomly divided into two groups:conventional dose group administrating fexofenadine hydrochloride tablets 120 mg/d for 12 consecutive weeks, tapering dose group administrating fexofenadine hydrochloride tablets 120 mg/d for the first 4 weeks followed by dose tapering of fexofenadine hydrochloride tablets by 30 mg at the 5th and 9th weeks. The urticaria activity score(UAS) and dermatology life quality index(DLQI)were evaluated before the treatment(baseline)as well as after 4?, 8?and 12?week treatment, and the total dose of fexofenadine hydrochloride was calculated. Results A total of 76 patients completed the 12?week treatment, including 37 patients in the conventional dose group and 39 patients in the tapering dose group. After 4?, 8?and 12?week treatment, a significant decrease was observed in the UAS in the conventional dose group(0.64 ± 0.82, 0.37 ± 0.68 and 0.27 ± 0.56 vs. 4.08 ± 0.79, all P<0.01)and tapering dose group(0.61 ± 0.87, 0.48 ± 0.72 and 0.28 ± 0.61 vs. 4.07 ± 0.81, all P<0.01)compared with that at baseline in the corresponding groups. DLQI scores also significantly decreased after 4, 8 and 12 weeks of treatment in the conventional dose group(3.62 ± 1.82, 2.81 ± 1.65 and 1.37 ± 1.14 vs. 16.19 ± 3.79, all P<0.01)and tapering dose group(3.79 ± 2.57, 2.74 ± 2.11 and 1.15 ± 1.47 vs. 15.92 ± 4.2, all P < 0.01) compared with those at baseline. However, there were no significant differences in the UAS or DLQI scores between the conventional dose group and tapering dose group at any of the post?treatment time points(all P>0.05). After 8?and 12?week treatment, symptoms were controlled in 71.79%(28/39)and 82.05%(32/39)of patients in the tapering dose group, respectively, with the total dose of fexofenadine hydrochloride being significantly lower in the tapering dose group than in the conventional dose group (both P<0.001). Conclusion After 4- 8 weeks of treatment with fexofenadine hydrochloride, the tapering dose regimen and conventional dose regimen show similar clinical efficacy in patients with chronic spontaneous urticaria.

To study the expression and distribution of neuropeptide Y (NPY) and long leptin receptor (OB-Rb) in the gastrointestinal tract of giant panda, samples of three animals were collected from the key laboratory for reproduction and conservation genetics of endangered wildlife of Sichuan province, China conservation and research center for the giant panda. Paraffin sections of giant panda gastrointestinal tissue samples were observed using hematoxylin-eosin staining (HE) and strept actividin-biotin complex immunohistochemical staining (IHC). The results show that the intestinal histology of three pandas was normal and no pathological changes, and there were rich single-cell and multi-cell mucous glands, long intestinal villi and thick muscularis mucosa and muscle layer. Positive cells expressing NPY and OB-Rb were widely detected in the gastrointestinal tract by IHC methods. NPY positive nerve fibers and neuronal cell were widely distributed in submucosal plexus and myenteric plexus, especially in the former. They were arranged beaded or point-like shape. NPY positive cells were observed in the shape of ellipse and polygon and mainly located in the mucous layer and intestinal glands. OB-Rb positive cells were mainly distributed in the mucous layer and the laminae propria, especially the latter. These results confirmed that NPY and OB-Rb are widely distributed in the gut of the giant panda, which provide strong reference for the research between growth and development, digestion and absorption, and immune function.
Animals ; China ; Intestines ; metabolism ; Neuropeptide Y ; genetics ; metabolism ; Receptors, Leptin ; genetics ; metabolism ; Ursidae ; genetics ; metabolism

Objective To observe the impact of mesenchymal stem cells (BMSCs) transplantation on myocardial myocardin-related transcription factor-A (MRTF-A) and bcl-2 expression in rats with experimental myocardial infarction (MI).Methods Thirty rats were randomly divided into sham,MI and MI + BMSCs (1 × 106 injected into 4 infarct points immediately post coronary artery ligation) groups (n =10 each).One week later,TUNEL was used to detect cardiomyocyte apoptosis,the myocardial expression of MRTF-A and bcl-2 was detected by laser scanning confocal microscope and Western blot.In vitro plasmid of MRTF-A and co-transfection with plasmids of MRTF-A and bcl-2 or mutated bcl-2 transfection into cardiomyocyte was applied to evaluate the relationship between MRTF-A and bcl-2.Results The number of apoptotic cardiomyocytes in the sham group,MI group and MI + BMSCs group were (4.05 ± 1.56) ％,(62.38 ± 8.41) ％ and (22.36 ±+ 6.17) ％,respectively (P ＜ 0.05).The protein expression of MRTF-A and bcl-2 in the MI group were significantly lower than those in sham group,while significantly upregulated in MI + BMSCs group (P ＜ 0.05 vs.MI).In cultured neonatal rat cardiomyocyte,the expression of bcl-2 protein was significantly upregulated after transfection with MRTF-A plasmid,and bcl-2-luciferase activity significantly increased after co-transfection with plasmids of MRTF-A and bcl-2-luciferase,however,the positive regulatory effect of MRTF-A was abolished after transfection with mutated bcl-2.Conclusion Mesenchymal stem cells transplantation can effectively reduce cardiomyocyte apoptosis in this rat MI model,and upregulate the expression of MRTF-A.Consequent up-regulated bcl-2 expression might be involved in the beneficial effects of BMSCs transplantation in this model.

Objective To explore the influence of life quality for the breast cancer patients receiving chemotherapy after the cog-nitive ,behavioral and psychological intervention to their spouse .Methods 120 breast cancer patients received standardized chemo-therapy and their spouses ,and divided into control and intervention groups .The intervention group receive the routine care and health guidance .Before and after chemotherapy ,the life quality of patients was investigated .The data was analyzed statistically .Re-sults The result by the breast cancer patients Quality of Life Questionnaire in Chinese (FACT-B) show that ,the scores of the con-trol and intervention groups in the physiological status ,social/family status ,emotional status ,functional status ,additional attention andtotalscorewere(18.77±4.18,16.48±4.60,17.35±4.41,16.04±4.80,20.81±6.02,89.45±6.34 ;22.46±3.57,19.03± 4 .83 ,18 .58 ± 3 .96 ,18 .59 ± 4 .48 ,24 .73 ± 5 .63 ,103 .39 ± 8 .91) .The scores of intervention groups was increased significantly than the control group .The data was analyzed statistically .Conclusion The quality of life of patients was improved by the cognitive ,be-havioral and psychological guidance and intervention to the spouse of breast cancer chemotherapy patients.