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.

Research on IgG4-related disease (IgG4-RD), an autoimmune condition recognized to be a unique disease entity only two decades ago, has processed from describing patients' symptoms and signs to summarizing its critical pathological features, and further to investigating key pathogenic mechanisms. Challenges in gaining a better understanding of the disease, however, stem from its relative rarity-potentially attributed to underrecognition-and the absence of ideal experimental animal models. Recently, with the development of various high-throughput techniques, "omics" studies at different levels (particularly the single-cell omics) have shown promise in providing detailed molecular features of IgG4-RD. While, the application of omics approaches in IgG4-RD is still at an early stage. In this paper, we review the current progress of omics research in IgG4-RD and discuss the value of machine learning methods in analyzing the data with high dimensionality.
Humans ; Immunoglobulin G4-Related Disease/metabolism* ; Immunoglobulin G/metabolism* ; Machine Learning ; Animals ; Proteomics/methods*

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 evaluate the feasibility and clinical significance of the three-dimensional acetabular oval fossa-guided positioning technique in acetabular prosthesis placement during total hip arthroplasty(THA).Methods Sixty patients with femoral neck fractures who underwent primary THA were randomly divided into two groups(n=30 per group).The observation group received acetabular component placement guided by a three-dimensional positioning technique based on preoperative acetabular angle measurements and pelvic model reconstruction using CT data.During surgery,placement was performed according to the preoperative plan,using anatomical landmarks including the acetabular fossa,transverse acetabular incision,and transverse acetabular ligament.The control group underwent conventional freehand acetabular component placement.The two groups were compared in terms of surgical parameters(operation time,intraoperative fluoroscopy frequency,blood loss),postoperative deviations in acetabular component angles(abduction and anteversion angles),Harris hip score(HHS),visual analog scale(VAS)for pain,and dislocation rate.Results Baseline characteristics were comparable between groups.The observation group exhibited a slightly longer operation time and significantly greater blood loss compared to the control group,with no significant difference in fluoroscopy frequency.Postoperative radiographic measurements showed that deviations in both the abduction and anteversion angles of the acetabular component were significantly smaller in the observation group than in the control group.At one month postoperatively,the HHS was significantly higher and the VAS score was significantly lower in the observation group.However,no significant differences in functional or pain scores were found between the two groups at three and six months postoperatively.No dislocations were observed in the observation group,whereas one dislocation occurred in the control group.Conclusions The three-dimensional acetabulum oval fossa-guided positioning technique,which integrates anatomical landmarks with individualized preoperative planning,enables precise quantitative measurement and significantly enhances the accuracy of acetabular component placement angles in THA.This improvement contributes to faster postoperative functional recovery and leads to favorable clinical outcomes,demonstrating strong practical application value.

Objective:To revise and enlarge the specification of pharmaceutical excipient sucrose palmitate.Methods:Reference to JP2018,USP-NF 2023,EP1 1.0,Chinese Pharmacopoeia 2020 edition of the four general rules and the first supplement of sucrose stearate pharmacopoeia standards and other relevant requirements for standard research.Results:According to the quality of the product and the actual application in the formulation,the quality standards for the pharmaceutical excipient sucrose palmitate will be studied.At present,the quality standard of sucrose palmitate for pharmaceutical excipients has been disclosed.Conclusion:The established stand-ard will provide the quality guarantee for the application of sucrose palmitate in medicines.

BACKGROUND:Deferoxamine exhibits multiple functions such as stem cell modulation,immune regulation,and promotion of angiogenesis and osteogenesis,but its role in the osteoinhibition induced by dexamethasone in osteoblasts remains unclear.OBJECTIVE:To investigate the effects of deferoxamine on osteoblasts treated with dexamethasone through the hypoxia-inducible factor 1α/vascular endothelial growth factor signaling pathway and to explore its potential mechanisms of action.METHODS:The proliferation of MC3T3-E1 cells treated with various concentrations of deferoxamine for 24,48,and 72 hours was assessed using the cell counting kit-8 assay to determine the optimal intervention concentration.There were control,dexamethasone,dexamethasone plus deferoxamine 10 μmol/L,and dexamethasone plus deferoxamine 20 μmol/L groups in the experiment.Cell counting kit-8 assay and flow cytometry were employed to evaluate the effect of deferoxamine on dexamethasone-induced cell proliferation and apoptosis.Alkaline phosphatase staining and activity assays were conducted to assess alkaline phosphatase levels in MC3T3-E1 cells.Alizarin red staining was used to observe the formation of mineralized nodules.Western blot was employed to detect the expression of osteogenic and signaling proteins.RESULTS AND CONCLUSION:(1)Deferoxamine showed no significant cytotoxicity to MC3T3-E1 cells within the range of 5-20 μmol/L and could ameliorate the inhibitory effects of dexamethasone on MC3T3-E1 cell proliferation and apoptosis.(2)Compared with the dexamethasone group,deferoxamine groups increased alkaline phosphatase activity and cell mineralization,and also significantly increased the protein expression of osteopontin,runt-related transcription factor 2,and alkaline phosphatase in MC3T3-E1 cells.(3)Deferoxamine also activated the hypoxia-inducible factor 1α/vascular endothelial growth factor pathway in dexamethasone-treated MC3T3-E1 cells.To conclude,deferoxamine can alleviate apoptosis in osteoblasts induced by dexamethasone treatment,maintain the vitality of osteoblasts by activating the hypoxia-inducible factor 1α/vascular endothelial growth factor signaling pathway,and promote their proliferation,which may help delay the progression of steroid-induced osteonecrosis of the femoral head.

Objective To evaluate the feasibility and clinical significance of the three-dimensional acetabular oval fossa-guided positioning technique in acetabular prosthesis placement during total hip arthroplasty(THA).Methods Sixty patients with femoral neck fractures who underwent primary THA were randomly divided into two groups(n=30 per group).The observation group received acetabular component placement guided by a three-dimensional positioning technique based on preoperative acetabular angle measurements and pelvic model reconstruction using CT data.During surgery,placement was performed according to the preoperative plan,using anatomical landmarks including the acetabular fossa,transverse acetabular incision,and transverse acetabular ligament.The control group underwent conventional freehand acetabular component placement.The two groups were compared in terms of surgical parameters(operation time,intraoperative fluoroscopy frequency,blood loss),postoperative deviations in acetabular component angles(abduction and anteversion angles),Harris hip score(HHS),visual analog scale(VAS)for pain,and dislocation rate.Results Baseline characteristics were comparable between groups.The observation group exhibited a slightly longer operation time and significantly greater blood loss compared to the control group,with no significant difference in fluoroscopy frequency.Postoperative radiographic measurements showed that deviations in both the abduction and anteversion angles of the acetabular component were significantly smaller in the observation group than in the control group.At one month postoperatively,the HHS was significantly higher and the VAS score was significantly lower in the observation group.However,no significant differences in functional or pain scores were found between the two groups at three and six months postoperatively.No dislocations were observed in the observation group,whereas one dislocation occurred in the control group.Conclusions The three-dimensional acetabulum oval fossa-guided positioning technique,which integrates anatomical landmarks with individualized preoperative planning,enables precise quantitative measurement and significantly enhances the accuracy of acetabular component placement angles in THA.This improvement contributes to faster postoperative functional recovery and leads to favorable clinical outcomes,demonstrating strong practical application value.

This paper conducts a systematic literature review to analyze and summarize the current status, admission standards, practical scope, competency requirements, and talent cultivation of public health nursing teams both domestically and internationally, in order to provide reference for the development of public health nursing in China and assist in the improvement of the public health talent team.