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.

Intersphincteric resection (ISR) is an advanced sphincter-preserving surgery for low rectal cancer. Accumulating evidences from clinical studies indicate that ISR can spare some pati-ents with low rectal cancer from the distress of anal amputation while ensuring oncological efficacy. However, due to the necessity of removing part or all of the internal sphincter during rectal resection and the extremely low anastomosis level, a subset of patients may experience low anterior resection syndrome (LARS) after surgery. LARS is characterized by symptoms such as anal incontinence, increased bowel frequency, urgency, incomplete evacuation, and obstructed defecation. Based on relevant literature and team practice, the authors provide an overview of the diagnosis and treat-ment progress of LARS following ISR.

17q12 deletion syndrome is a rare autosomal dominant disorder affecting multiple organ systems caused by the deletion of DNA fragments approximately 1.4～1.8 Mb in band 2 of region 1,the long arm of chromosome 17,including hepatocyte nuclear factor 1B.The clinical manifestation of the disease ismaturity-onset diabetes of youth type 5,abnormalities in renalstructure or function,as well as in neurodevelopment or psychiatric systems.

Objective To investigate the relationship between metabolically associated fatty liver disease(MAFLD)and blood glucose fluctuation in hospitalized type 2 diabetes mellitus(T2DM)patients treated with insulin.Methods A total of 1373 T2DM inpatients treated with insulin were collected.The mean values of the coefficient of variation(CV)of daily blood glucose on days 2～3,4～5,and 6～7 were calculated respectively.According to the median of CV2-3,CV4-5 and CV6-7 groups(27.8%,26.0%,24.8%,respectively),subjects were divided into subgroups:CV2-3<27.8%(n=686),CV2-3≥27.8%(n=687);CV4-5<26.0%(n=687),CV4-5≥26.0%(n=686);CV6-7<24.8%(n=686),CV6-7≥24.8%(n=687).Subjects were divided into T2DM combined with MAFLD group(MAFLD,n=793)and T2DM group(n=580).According to the median CV(26.2%,24.4%,23.4%),MAFLD patients were divided into subgroups:CV2-3<26.2%(n=396),CV2-3≥26.2%(n=397);CV4-5<24.4%(n=397),CV4-5≥24.4%(n=396);CV6-7<23.4%(n=396),CV6-7≥23.4%(n=397).According to the MAFLD fibrosis score(NFS),subjects were divided into NFS<-1.455(non advanced liver fibrosis subgroup,n=115),-1.455≤NFS≤0.676(suspected liver fibrosis subgroup,n=514),NFS>0.676(advanced liver fibrosis subgroup).Logistic regression analysis was used to identify risk factors associated with CV.Results Compared with CV2-3<27.8%subgroup,BMI,FC-P and prevalence of MAFLD in CV2-3≥27.8%subgroup were lower(P<0.01).Compared with CV4-5<26.0%subgroup,BMI,FC-P and prevalence of MAFLD in CV4-5≥26.0%subgroup were lower(P<0.01).Compared with CV6-7<24.8%subgroup,BMI,FC-P and prevalence of MAFLD in CV6-7≥24.8%subgroup were lower(P<0.01).Logistic regression analysis showed that BMI,FC-P and HbA1c were the influencing factors of CV2-3≥27.8%;gender,age,BMI,FC-P and MAFLD were the influencing factors of CV4-5≥26.0%;BMI,FC-P and MAFLD were the influencing factors of CV6-7≥24.8%.Compared with T2DM group,CV2-3,CV4-5 and CV6-7 in MAFLD group were decreased(P<0.01);FC-P was increased(P<0.01).Compared with CV2-3<26.2%subgroup,BMI and FC-P in CV2-3≥26.2%subgroup were lower(P<0.01).Compared with CV4-5<24.4%subgroup,BMI and FC-P in CV4-5≥24.4%subgroup were lower(P<0.01).Compared with CV6-7<23.4%subgroup,BMI and FC-P in CV6-7≥23.4%subgroup were lower(P<0.01).CV2-3 in advanced liver fibrosis subgroup was higher than that in suspect liver fibrosis subgroup(P<0.05).Logistic regression analysis showed that FC-P and HbA1c were the influencing factors of CV2-3≥26.2%;FC-P was the influencing factors of CV4-5≥24.4%;the course of DM and FC-P were the influencing factors of CV6-7≥23.4%.Conclusions BMI and FC-P are the influencing factors of blood glucose fluctuation in T2DM patients treated with insulin.Blood glucose fluctuation in patients without MAFLD is large.FC-P is the influencing factor of blood glucose fluctuation in T2DM patients combined with MAFLD.

Objective To explore the measurement accuracy of right coronary artery during coronary angiography (CAG)at 45Gdegree left oblique position.Methods The images of right coronary artery angiographic view of 45Gdegree left oblique position were divided into nine average areas.The images with marker segment of guiding wire located in the central area (n＝45)or subcentral area (n＝45)of CAG cases were collected retrospectively and randomly.The marker segment was measured by catheter calibration method,and the measure values were compared with the actual length (30 mm).Results A N OVA analysis suggested statistical differences among the three groups (F＝4.59,P＜0.05).By paired comparison,no significant differences were found in measured values between central areas (3 1.1 9± 4.12)mm or subcentral areas (29.55±2.75)mm and the actual length (P＞0.05).Significant differences were found in measured values between central areas and subcentral areas (P＜0.05).The measuring error of subcentral areas (－1.5%)was less than that of central areas (3.9%).Conclusion During CAG at 45Gdegree left oblique position,the values of subcentral area were more accurate than those of central area and the subcentral area was thus regarded as image area with less measurement error in interventional surgery.