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 establish the judgment basis of ventilation pipe status by 0 daPa wideband acoustic immittance(WAI-0 daPa),and to assist doctors to determine the status of ventilation tube and determine the timing of extubation.Methods A total of 43 children with 62 ears aged 3-6 years old were tested by 0 daPa broadband acoustic reactance test.The normal middle ear function group were ten children with 20 ears.Children with secreto-ry otitis media more than 12 months after tympanic tube catheterization were divided into 11 cases 19 ears of clear ventilation tube group,and 23 ears in 22 cases of ventilation tube blockage group.A total of 107 frequencies of WAI-0 daPa were obtained.The Kruskal-Wallis H and Nemenyi were used to analyze the influence of ventilation tube status on WAI-0 daPa.Results The WAI-0 daPa at 226-667 Hz was significantly higher in the clear ventila-tion tubegroupthan in the normal middle ear group.The WAI-0 daPa at 226-500 Hz was significantly lower in the blocked ventilation tube group than in the clear ventilation tube group.The WAI-0 daPa at 2 000-3 364 Hz and 6 727 Hz in the normal middle ear function group were significantly higher than those in the blocked ventilation tube group.The WAI-0 daPa in low frequencies was less than 20％,the possibility of blackage of eardrum tube was greater.Conclusion The absorptivity in low frequency region of WAI-0 daPa can be used to determine the status of tympanic catheter ventilation tube and assist doctors to determine the timing of extubation.

Objective To investigate the feasibility of estimating the real-ear-to-coupler difference(RECD)in children with head circumference,so as to further optimize the personalized and accurate matching scheme of hearing aid fitting for children.Methods A total of 106 children(197 ears)were enrolled in this study.Head circumference was measured using a soft ruler and RECD was measured using OmetroricsAuricalTM.SPSS software was used to analyze the correlation between the head circumference,month age and RECD values at each frequency of children.Results ① The head circumference of boys was slightly larger than that of girls,but there was no significant differ-ence between them(P＞0.05).② Unitary linear correlation analysis showed that RECD values at 750-6 000 Hz were negatively correlated with the head circumference,and a regression equation was established between RECD values at 1 000-6 000 Hz and the head circumference.③ RECD values calculated by regression formula based on the head circumference showed no significant difference between 1 000-3 000 Hz and 6 000 Hz and children's actu-al RECD values.Conclusion The individual RECD values of 0-6 years old children were correlated with the head circumference,and with the increase of the head circumference,RECD values at middle and high frequencies de-creased gradually.For children whose physical developments were not consistent with biological age,the RECD data at middle and high frequencies could be estimated based on the head circumference.

Malignant hyperthermia(MH)is a rare perioperative disease with autosomal dominant inheritance,and its pathogenesis involves specific gene mutations.Its clinical feature is that conventional anesthetics can trigger abnormally high metabolic reactions in skeletal muscles.Although the incidence of this disease is low,the condition is dangerous,progresses rapidly,and has a high mortality rate;Its treatment relies on early diagnosis,timely application of the specific drug Dantrolene Sodium,and rapid and orderly comprehensive symptomatic supportive treatment.MH is a critical perioperative emergency that can occur during surgery.It presents with symptoms such as hyperpyrexia,metabolic acidosis,rhabdomyolysis,and dysfunction of multiple organ systems.If not treated promptly,it can quickly lead to life-threatening arrhythmias and cardiac arrest.This condition serves as an essential teaching example in anesthesia crisis resource management.As an effective teaching method,scenario simulation exercises can comprehensively enhance medical staff's personal technical,non-technical,and teamwork abilities through simulating emergency scenarios,teaching assessments,and retrospective discussions,especially suitable for comprehensive management training of fatal diseases.Many countries internationally have incorporated simulation exercises for MH into their routine teaching and training systems.The effectiveness of teaching and training for anesthesiologists in MH and their ability to handle anesthesia crisis events have been continuously improved through a periodic training model.This article systematically reviews the research progress and practical experience of scenario simulation exercises in emergency training for MH,with a focus on exploring how to establish a scenario simulation exercise plan for emergency application and comprehensive symptomatic support treatment of Dantrolene Sodium based on the actual situation in China,providing reference for improving the teaching and training quality of MH and other clinical crisis events.

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 explore the relationship between hepatocyte nuclear factor 1A(HNF1A)-associated congenital hyperinsulinism(CHI),HNF1A-maturity-onset diabetes of the young(MODY)and C-reactive protein(C-RP)levels.Methods PubMed,CNKI and Wanfang Data were searched for literature on HNF1A gene mutation published from inception to December 2023,and the genetic and clinical information of HNF1A mutation-related CHI and HNF1A-MODY were extracted.According to the clinical phenotypes,the HNF1A mutation sites included in the literature were divided into the Biphenotypic mutations(Biphenotypic,n=84)group and the DM phenotype-associated mutations(DM,n=378)group.The levels of C-RP and C-P were collected and compared in patients with HNF1A-MODY and T2DM by meta-analysis.Results A total of 9 articles about HNF1A mutation-related CHI were included,and 19 mutation sites were found to be associated with CHI.A total of 143 articles related to HNF1A-MODY were included,and 589 mutation sites were found to be associated with HNF1A-MODY.The age at diagnosis and 2 hPG were significantly lower in the Biphenotypic group than in the DM group(P<0.05).A total of 11 articles were included in the meta-analysis.Compared with T2DM patients,HNF1A-MODY patients had lower C-RP(MD-1.61,95%CI-1.96～-1.26,P<0.05)and lower C-P(MD-0.95,95%CI-1.87～-0.03,P<0.05).Conclusions CHI is an important clinical feature of HNF1A-MODY,and hyperinsulinemia may exist before the decline of islet β cell function.

Portal vein tumor thrombus(PVTT)is a common manifestation of advanced hepatocellular carcinoma(HCC),associated with poor prognosis and significant treatment challenges.Although various therapeutic options-including surgery,systemic therapies,and local treatments such as interventional procedures and radiotherapy-are available for HCC with PVTT,monotherapies often yield limited efficacy,highlighting the need for combined treatment strategies.With the advancement of radiotherapy technologies,stereotactic body radiation therapy(SBRT)has gained increasing recognition due to its high precision,ablative doses,and fewer treatment fractions.SBRT plays a crucial role in palliative care,conversion therapy,neoadjuvant,and adjuvant settings.Recent studies have demonstrated that SBRT,either alone or in combination with other modalities,significantly improves overall survival and local control rates in patients with HCC and PVTT.This review summarizes the current research progress of SBRT in the management of HCC with PVTT,emphasizing both monotherapy and combined approaches with surgery,interventional therapy,targeted agents,and immunotherapy,aiming to provide insights for clinical decision-making.

Objective To establish the judgment basis of ventilation pipe status by 0 daPa wideband acoustic immittance(WAI-0 daPa),and to assist doctors to determine the status of ventilation tube and determine the timing of extubation.Methods A total of 43 children with 62 ears aged 3-6 years old were tested by 0 daPa broadband acoustic reactance test.The normal middle ear function group were ten children with 20 ears.Children with secreto-ry otitis media more than 12 months after tympanic tube catheterization were divided into 11 cases 19 ears of clear ventilation tube group,and 23 ears in 22 cases of ventilation tube blockage group.A total of 107 frequencies of WAI-0 daPa were obtained.The Kruskal-Wallis H and Nemenyi were used to analyze the influence of ventilation tube status on WAI-0 daPa.Results The WAI-0 daPa at 226-667 Hz was significantly higher in the clear ventila-tion tubegroupthan in the normal middle ear group.The WAI-0 daPa at 226-500 Hz was significantly lower in the blocked ventilation tube group than in the clear ventilation tube group.The WAI-0 daPa at 2 000-3 364 Hz and 6 727 Hz in the normal middle ear function group were significantly higher than those in the blocked ventilation tube group.The WAI-0 daPa in low frequencies was less than 20％,the possibility of blackage of eardrum tube was greater.Conclusion The absorptivity in low frequency region of WAI-0 daPa can be used to determine the status of tympanic catheter ventilation tube and assist doctors to determine the timing of extubation.