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.

Anomalous aortic origin of a coronary artery（AAOCA）is a rare congenital malformation of the coronary artery，characterized by the coronary orifice origin from the inappropriate sinus of valsalva. Clinical presentations of this condition are occult，and different types present with various clinical manifestations，including exercise-induced angina，syncope，and even sudden death，particularly when the coronary artery follows an interarterial（intramural）course. Coronary computed comography angiography is an effective diagnostic method for precisely delineating the origin and shape of the coronary artery. Surgical correction is recommended upon evidence of myocardial ischemia and potential risk，and offers favorable long-term prognosis post-surgery. Despite low morbidity，limited experience in diagnosis and treatment，early diagnosis and timely treatment are of great importance because of the high potential risk related to the high-risk types. This paper aims to review the advances in the pathophysiology，clinical manifestations，diagnosis，and treatment of AAOCA to enhance recognition among pediatricians and reduce the incidence rate of sudden cardiac death in children with AAOCA.

Objective:To explore the associations of urinary retinol binding protein (RBP) and β 2-microglobulin (β 2-MG) with urinary albumin to creatinine ratio (UACR) and renal function in hospitalized patients with type 2 diabetes mellitus (T2DM). Methods:A total of 1 030 Chinese patients with T2DM were included in this study. The subjects were divided into the UACR normal group (<30 mg/g), microalbuminuria group (30-300 mg/g) and macroalbuminuria group (>300 mg/g). Patients with normal UACR were further divided into two groups according to the estimated glomerular filtration rate (eGFR): the eGFR low group (<90 ml·min -1·1.73m -2) and the normal eGFR group (≥90 ml·min -1·1.73m -2). Urine RBP and β 2-MG levels among the groups were compared. Multiple linear regression analyses were applied to evaluate risk factors of urine RBP and β 2-MG. Results:In all patients ( n=1 030), urine RBP and β 2-MG increased gradually with the increase of UACR across the three groups, the proportions of abnormal urine RBP (>0.7 mg/L) and β 2-MG (>370 μg/L) in these groups were 3.8%, 8.5%, 39.0% ( P<0.001), and 12.9%, 26.7%, 46.8% ( P<0.001), respectively. In the UACR normal group ( n=788), 12.2% of the patients were with eGFR<90 ml·min -1·1.73m -2. The proportion of abnormal β 2-MG (>370 μg/L) was higher in the eGFR low group than that in the eGFR normal group (29.2% vs. 10.7%, P<0.001). Multivariate linear stepwise regression analyses were performed using natural logarithm of urine RBP or β 2-MG as dependent variable, and showed that urine RBP was independently associated with UACR ( β=0.0005, P<0.001), serum creatinine ( β=0.006, P<0.001) and glycosylated hemoglobin A1c ( β=0.050, P=0.001), and β 2-MG was independently correlated with UACR ( β=0.000 4, P<0.001), serum creatinine ( β=0.011, P<0.001), systolic blood pressure ( β=0.005, P=0.031) and fasting blood-glucose ( β=0.027, P=0.046). Conclusions:Urine RBP and β 2-MG are positively associated with high UACR and impaired renal function in T2DM patients, and these changes could occur before UACR and eGFR turned out to be abnormal. It is recommended that urine RBP and β 2-MG be detected as early as possible to identify diabetic kidney disease in patients with normal UACR and eGFR.

ObjectiveTo explore the anhedonia level and its relationship with cognitive function in patients with first-episode psychosis， and to analyze the influencing factors of cognitive function. MethodsA total of 143 first-episode psychiatric patients who met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） in the Affiliated Brain Hospital of Guangzhou Medical University from December 2016 to March 2019 were selected. Positive and Negative Syndrome Scale （PANSS） was used to evaluate the patient’s psychiatric symptoms， in which N2 （emotional withdrawal） and N4 （passive/apathetic social withdrawal） were used to assess the anhedonia level， and patients whose （N2+N4） scores beyond 4 were classified into anhedonia group， and those with （N2+N4） scores less than or equal to 4 were classified into non-anhedonia group. Hamilton Depression Scale-24 item （HAMD-24） was used to measure the depressive symptoms， and the MATRICS Consensus Cognitive Battery （MCCB） was used to detect cognitive function. Then the clinical symptoms and cognitive function of two groups were compared， and the influencing factors of cognitive function were screened by multiple linear regression analysis. ResultsThe negative symptom score， general pathological symptom score and total score of PANSS in anhedonia group were significantly higher than those of non-anhedonia group， with statistical difference （P<0.05）. The score of working memory in adolescent subgroup， the scores of information processing speed， attention/alertness and vocabulary learning in adult subgroup of anhedonia group were lower than those of non-anhedonia group， with statistical difference （P<0.05）. Multiple linear regression analysis showed that the anhedonia score and the duration of untreated psychosis were the influencing factors of working memory in adolescent subgroup （P<0.05）. ConclusionPatients with high levels of anhedonia suffer more severe mental symptoms and cognitive impairment， moreover， anhedonia is one of the influencing factors of working memory in adolescents.

Liver metastases is the most common distant metastases of pancreatic neuroendocrine neoplasms, and it is also one of the main factors affecting the prognosis of patients. With the development of treatment technology and the rise of a multidisciplinary treatment model, the treatment plan for patients with liver metastases has gradually evolved into a comprehensive treatment plan including surgery, intervention, medicine, and radiation therapy. Radical surgery is still the only treatment currently available to cure patients with pancreatic neuroendocrine tumors and liver metastases. Very few selected patients can also benefit from liver transplantation. For most patients who are unable to undergo surgery can choose intervention, medicine and radiation therapy which can improve the patient′s prognosis to a certain extent. Targeted therapy and immunotherapy have good development prospects, and further research is still needed. With multidisciplinary treatment, individualized treatment can help patients obtain the best treatment results.

Objective:To investigate the value of Gd-EOB-DTPA-enhanced MRI in evaluating liver function and predicting the risk of post-hepatoectomy liver failure in patients with major resection of liver cancer.Methods:A total number of 212 patients were included from June 2016 to June 2019 at Department of General Surgery, Peking University Third Hospital with a retrospectively collected data.All patients underwent Gd-EOB-DTPA-enhanced MRI for diagnosis and preoperative evaluation of liver function.There were 135 males and 77 females, with age of (63.1±10.3) years old (range: 18 to 86 years old) . Relative enhancement ratio (RER) of the region of interest on Gd-EOB-DTPA-enhanced MRI was acquired by two independent researcher and then conducted the comparison of RER among the patients with or without post-hepatoectomy liver failure (PHLF) .Preoperative evaluation demonstrated that 141 cases infected by hepatitis virus, 128 cases with hepatitis B alone and 11 cases with hepatitis C alone, 2 cases had both of hepatitis B and C, and all patients were grade A judged by Child-Pugh score. The relationship between RER and PHLF was evaluated by Pearson correlation analysis and the diagnostic value of RER in predicting PHLF was test by receiver operating characteristic curve.Results:PHLF occurred in 42 patients according to ISGLS standard. Among them, 31 cases had level A liver failure, 9 cases had level B liver failure and 2 had level C failure. There was a significant correlation between RER and overall level of PHLF and RER was also significantly associated with severe B to C level of PHLF ( P<0.05) .The further receiver operating characteristics curve analysis showed that the diagnostic accuracy of RER on overall PHLF was 0.818 (sensitivity 72.9%, specificity 83.3%, cut-off value 73.5%, 95 %CI: 0.75 to 0.887) and on severe PHLF was 0.924 (sensitivity 97.0%, specificity 90.9%, cut-off value: 61.5%, 95 %CI: 0.79 to 0.90) . Conclusion:For patients who planned to undergo major resection of liver cancer, preoperative Gd-EOB-DTPA-enhanced MRI can help with the assessment of liver function and predicting the risk for post-hepatectomy liver failure.