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.

ObjectiveTo explore the mechanism of Huanglian Wendantang on damp-heat type diabetes enteropathy rats based on the G protein coupled bile acid receptor 5/glucagon like peptide-1 （TGR5/GLP-1） signaling pathway and intestinal flora. MethodsA total of 72 male Sprague Dawley （SD） rats were adaptively fed for one week. Twelve SD rats were randomly selected as a blank group and fed with an ordinary diet. The rest of the SD rats were fasted for 12 hours without water. A rat model with damp-heat type diabetes enteropathy was made by left intraperitoneal injection of streptozotocin （55 mg·kg^-1） and high sugar and high fat diet （20% sucrose solution + high fat diet） in a humid and hot environment （artificial climate box： temperature 30-34 ℃， relative humidity： 85%-95%）. After successful modeling， the rats were randomly divided into a model group， a metformin group （200 mg·kg^-1）， low-dose， medium-dose， and high-dose Huanglian Wendantang groups （7.10， 14.20， 28.39 g·kg^-1）， with 12 rats in each group. The normal group and the model group were orally administered with physiological saline once a day for 6 consecutive weeks. During the observation period， the weight and blood glucose levels of rats were measured and recorded weekly. After the administration， fresh feces were collected from rats， and 16S rRNA sequencing technology was used to study the differences and changes in intestinal flora among different groups. The levels of tumor necrosis factor-α （TNF-α） and interleukin-6 （IL-6） in the serum of rats were detected by enzyme-linked immunosorbent assay （ELISA）， and the pathological morphological changes of colon tissue were examined. The expression of TGR5 and GLP-1 in colon tissue was detected by immunohistochemistry， and the expression of TGR5 and GLP-1 proteins in colon tissue was measured by Western blot. ResultsCompared with the blank group， the model group showed a decrease in body weight， an increase in blood glucose， and significant damp-heat symptoms. The levels of IL-6 and TNF-α in serum were significantly increased （P<0.01）. The expression of TGR5 and GLP-1 was decreased （P<0.01）， and the pathogenic bacteria were increased. Compared with the model group， the treatment groups exhibited improvements in body weight， blood glucose levels， and damp-heat syndrome in rats. Among them， the high-dose group of Huanglian Wendantang displayed the most significant improvement effect， with significantly reduced inflammation levels （P<0.01） and elevated expression of TGR5 and GLP-1 （P<0.01）. Colonic pathological sections showed that Huanglian Wendantang could effectively ameliorate colonic pathological changes. The 16S rRNA sequencing result indicated a significant increase in beneficial bacteria in the treatment groups. ConclusionHuanglian Wendantang can effectively ameliorate the damp-heat symptoms and blood glucose levels in rats with damp-heat type diabetes enteropathy， and it may exert an effect by regulating the TGR5/GLP-1 signaling pathway and intestinal flora disorder.

OBJECTIVE To identify the influence factors associated with 28-day fatality among COVID-19 hospitalizations and to analyze the interaction between the disease severity at admission and the use of hospital preparations.METHODS A retrospective review of records from COVID-19 hospitalizations aged 18 to 90 who were admitted to the Jiangsu Province Hospital of Chinese Medi-cine from December 15,2022 to January 15,2023 were conducted.Patients who died or were lost to follow-up within 48 h of admis-sion were excluded.Patients were divided into survival and death groups based on their 28-day fatality status.Descriptive statistics were used to characterize the two groups and multivariate logistic regression models were employed to identify factors influencing 28-day fatality risk.The interaction between the severity of illness at admission and the use of hospital preparations was explored through cross-over analysis and hierarchical regression analysis.RESULTS Significant differences were observed between the survival and death groups in terms of severity of illness at admission,hospital preparations usage,steroid therapy,age,platelet count,lactate dehydro-genase levels,and urea(P<0.05.Crossover analysis and hierarchical logistic regression analysis revealed a significant antagonistic interaction between the severity of illness at admission and the use of hospital formulations both before adjustment(RERI=-20.678,95%CI:-33.703～-7.652;APAI=-2.301,95%CI:-4.027～-0.575 and after adjusting for gender,age,clinical characteristics and further adjusting for laboratory parameters(RERI=-5.972,95%CI:-10.564～-1.380;APAI=-2.205,95%CI:-4.131～-0.279,and it was an antagonistic interaction both before(SI=0.279,95%CI:0.157～0.493 and after adjustment(SI=0.222,95%CI:0.095～0.523.CONCLUSION The use of hospital preparations significantly reduces the 28-day fatality risk among COV-ID-19 hospitalizations and a clear antagonistic interaction was observed between the disease severity at admission and the use of hospi-tal preparations.

Objective:To explore the mechanism of Buzhong Yiqi Decoction in the treatment of retinitis pigmentosa (RP) based on network pharmacology; To verify it by in vitro experiments.Methods:The effective active components and corresponding targets of Buzhong Yiqi Decoction were screened by retrieving TCMSP database, and the RP-related targets were obtained by searching GeneCards, OMIM and other databases. The interaction network diagram of Buzhong Yiqi Decoction-RP was drawn by Cytascape3.7.1 software, and the core targets were extracted. DAVID online database was used to enrich and analyze gene ontology (GO) and Kyoto Encyclopedia of Genes and Genome (KEGG) pathway; the FerrDb database was searched to obtain the genes that regulate ferroptosis, and finally comprehensively analyze the relationship between the active targets of Buzhong Yiqi Decoction, RP and ferroptosis and make predictions; finally, molecular docking was performed by Auto Dock software to verify the reliability of the results. In vitro experiment, rat Muller cells were used as the research object, and LPS-induced cells were used to construct model cells in vitro. The blank group, model group, Buzhong Yiqi Decoction low-, medium- and high-dosage groups were set up, and the cell proliferation was detected by CCK-8 method; the concentrations of lactate dehydrogenase (LDH), superoxide dismutase (SOD), malondialdehyde (MDA) and ferroptosis in the cells were detected by the kit method; the expressions of HIF-1α MRNA and GPX-4, FTH-1, ACSL4 mRNA levels in cells of each group were detected by RT-PCR.Results:Totally 117 effective targets were selected from Buzhong Yiqi Decoction, and IL-6, IL-1β, EGFR, ESR1, PPARG may be the targets of Buzhong Yiqi Decoction in regulating ferroptosis and anti-RP. Buzhong Yiqi Decoction could regulate ferroptosis by mediating MAPK, HIF-1, TNF, AGE-RAGE, Toll-like receptor, IL-17, PI3K-Akt and other signal pathways. Molecular docking virtual results suggested that the quercetin, kaempferol, β-Sitosterol and IL-6, IL-1β, EGFR, ESR1, PPARG and other candidate core targets had good binding activity. Compared with the model group, the cell activity, level of SOD, LDH activity, MDA content and Fe 3+ content, IL-6 mRNA, HIF1A mRNA ,ACSL4 mRNA in each Buzhong Yiqi Decoction group significantly decreased ( P<0.05), the expressions of GPX-4 and FTH-1mRNA significantly increased ( P<0.05). Conclusion:Buzhong Yiqi Decoction may play the role of anti-inflammation and anti-ferroptosis through multiple components, multiple targets and multiple molecular pathways, thus achieving the effect of prevention and treatment of RP.

Objective:To explore the psychological experience and demand of parents of children with delayed recovery after congenital heart disease surgery.Methods:This study adopted phenomenological research methods from qualitative research. Using the purposive sampling method, parents of postoperative delayed recovery children with congenital heart disease who met the inclusion criteria were selected as the research objects from October to November 2019 at Fuwai Hospital, Chinese Academy of Medical Sciences. Semi-structured interviews were conducted with the parents of the children, and the data were analyzed by Colaizzi 7-step analysis method.Results:Finally, 13 parents of children with delayed recovery after congenital heart disease surgery were included. According to the interview results, four themes were extracted, which were negative psychological experience of parents of children with delayed recovery, positive psychological experience and expectation change of parents, heavy economic burden of parents and diversified needs of parents.Conclusions:During the delayed recovery period, psychological experience of parents is complex and their needs are diverse. The nursing staff should identify and pay attention to the causes of the negative psychological experience of the parents of the children, timely channel their negative emotions and strengthen the positive psychological experience in many aspects. They can assist parents to seek social help to reduce physical and mental pressure and meet the diverse needs of parents by providing high-quality nursing services and multi-channel information support.

Objective To investigate the effects of qigong abdominal breathing training on human brain function.Methods Seventy-two university students were recruited and randomly divided into the control and treatment groups in a 1:1 ratio. Both the control and treatment groups underwent the same standing pile work operation. However,only the treatment group received additional abdominal breathing training. The intervention process comprised two phases:2 weeks of intensive training and 6 weeks of counseling training. Electrocardiogram and electroencephalogram (EEG) tests were performed before (baseline period) and after training respectively. Sample entropy algorithm and empirical mode decomposition were used to analyze the EEG signals. The sample entropy complexity index and the correlation between EEG changes and respiratory curves were calculated to explore the brain function regulation effect. Results The complexity of different brain regions in the treatment group was higher than that of the control group after training. A large difference was observed when comparing the brain complexity in the temporoparietal junction,posterior temporal,parietal,parietal-occipital junction,and occipital regions. The brain complexity in the posterior temporal region of the treatment group was significantly higher than that of the control group after the intervention,with a significant difference (P<0.05). In the control group,the brain complexity in the frontal pole,anterior temporal,frontal reion,frontal-temporal junction,frontal-central junction,middle temporal,central,and temporal-parietal junction regions decreased to different degrees. However,the comparison between before and after was not significant. Furthermore,brain complexity in the central-parietal junction,posterior temporal,parietal,parietal-occipital junction,and occipital regions increased to different degrees in the control group;however,the difference was not significant. The brain complexity of the treatment group in the frontotemporal junction,middle temporal,and temporoparietal junction areas decreased slightly;however,the before-and-after comparison was not significant. The brain complexity of the treatment group in the frontal pole,frontotemporal,frontal,frontal-central junction,central,central-parietal junction,posterior-temporal,parietal,parietal-occipital junction,and occipital areas increased. The posterior-temporal,parietal,parietal-occipital junction,and occipital areas had more significant increases than the other areas. However,the before-and-after comparison was not significant. In both groups,brain complexity decreased in the frontotemporal junction,middle temporal,and temporoparietal junction areas and increased in the parietal,parieto-occipital junction,and occipital areas. The comparison of complexity between the treatment and control groups in P3 and PO3 leads after training was significant. P3 and PO3 are situated in the parietal region and parieto-occipital junction areas,respectively,indicating that antebellum breathing also affects brain function in these regions. The correlation between the respiratory curve and EEG components was enhanced after training. Conclusion Abdominal breathing training can significantly increase the complexity of the corresponding brain regions (posterior temporal,parietal,and parieto-occipital junction regions),and a significant correlation was observed between the two.

Head and neck cancer is the seventh most common cancer in the world,accounting for about 10%of all malignant tumors.Radiotherapy is an important treatment for head and neck cancer.Osteonecrosis of the jaws(ORNJ)is a refractory complication after ra-diotherapy for head and neck cancer,which often manifests as osteonecrosis of the jaw and soft tissue exposure.The current pathogene-sis of ORNJ has not been fully clarified and its treatment remains challenging.The traditional treatment for this disease is partial resec-tion of necrotic jaw bone and reconstruction with osteocutaneous flap.However,in recent years,some new techniques and ideas have been used to treat the disease.For mild osteoradionecrosis of the jaw,the treatment concept tends to be conservative.This article mainly summarizes the latest research progress at home and abroad,and reviews the pathogenesis,clinical manifestations and treatment strate-gies for osteoradionecrosis of the jaws.