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.

Bowel sounds can reflect the movement and health status of the gastrointestinal tract.However,the traditional manual auscultation method has subjective deviation and is time-consuming and labor-intensive.In order to better assist doctors in diagnosing bowel sounds and improve the reliability and efficiency of bowel sound detection,this study proposed a deep neural network model that combines a residual neural network(ResNet),a bidirectional long short-term memory network(BiLSTM),and an attention mechanism.Firstly,a large number of labeled clinical data was collected using the self-developed multi-channel bowel sound acquisition system,and the multi-scale wavelet decomposition and reconstruction method was used to preprocess the bowel sounds.Then,log Mel spectrogram features were extracted and sent to the network for training.Finally,the performance and effectiveness of the model were evaluated and verified by 10-fold cross-validation and an ablation experiment.The experimental results showed that the precision,recall,and F1 score of the model reached 83%,76%,and 79%,respectively,and it could effectively detect bowel sound segments and locate their start and end times,performing better than previous algorithms.This algorithm can not only provide auxiliary information for doctors in clinical practice but also offer technical support for further analysis and research of bowel sounds.

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.

Crohn′s disease (CD) is an autoimmune disease that mainly affects the digestive tract. Rectal and perianal involvement is a complex manifestation of CD. Refractory proctoanal type CD is the main cause of rectal resection and permanent anal dysfunction. Recently, our center performed modified Bacon surgery in two CD patients with complex rectoperineal and rectovaginal fistulas who were about to undergo rectotomy and enterostomy. The data of these two cases are summarized and reported.

Crohn′s disease (CD) is an autoimmune disease that mainly affects the digestive tract. Rectal and perianal involvement is a complex manifestation of CD. Refractory proctoanal type CD is the main cause of rectal resection and permanent anal dysfunction. Recently, our center performed modified Bacon surgery in two CD patients with complex rectoperineal and rectovaginal fistulas who were about to undergo rectotomy and enterostomy. The data of these two cases are summarized and reported.

Total mesorectal excision (TME) has become the basic principle of surgical treat-ment for middle and low rectal cancer. Some of patients with ultra-low rectal cancer require under-going intersphincteric resection (ISR). Due to the limitation of the narrow pelvis, TME and ISR put forward higher requirements for the precise separation of the anatomical level and the protection of neurological function during the operation. At present, evaluation of the difficulty of surgery for middle and low rectal cancer is mainly based on the subjective judgment of chief surgeon, and there is no unified and objective scoring system or prediction model that can classify the difficulty of surgery for middle and low rectal cancer before surgery. The authors review relevant literatures and summarize the existing studies related to pelvic measurement for predicting the difficulty of surgery for middle and low rectal cancer, in order to provide significant guidance for the selection of surgical approach for patients with middle and low rectal cancer.