Objective To explore a method for rapid and differential diagnosis of rejection after kidney transplantation through urine hyperspectral imaging technology. Methods Hyperspectral data information from urine samples of 118 recipients after kidney transplantation was collected, and a deep learning model was constructed to diagnose and classify the types of rejection. Results A deep learning diagnostic model based on the 34-layer residual network (ResNet-34) was constructed, and 118 patients were included and divided into the training set and the test set. Based on the pathological results of the transplanted kidney puncture, the urine samples of the patients were classified into five groups: the non-rejection group, the T-cell-mediated rejection group, the antibody-mediated rejection group, the mixed rejection group and the nephropathy recurrence group. The results showed that the diagnostic sensitivities of the model for the above five groups were 0.960, 0.980, 0.930, 0.940 and 0.943 respectively, and the diagnostic specificities were 0.983, 0.993, 0.997, 0.989 and 0.989 respectively. The overall diagnostic accuracy rate reached 95.7%. Conclusions The study provides a non-invasive, rapid and accurate auxiliary diagnostic method for the differential diagnosis of rejection after kidney transplantation.

Objective: To propose an improved method for constructing the internal quality control (IQC) framework for ELISA assays and validate its efficacy by statistically analyzing IQC data from nine blood center laboratories. Methods: 1) IQC data was collected from nine blood centers and analyzed using a domestic HBsAg ELISA detection kit as an example. 2) Differences between IQC values across batches within Blood Center 1 were assessed. 3) Statistical analyses were performed on batch usage, number of batches used, days of use, number of QC points, batch-specific means, and coefficients of variation (CV) across all nine centers. 4) Using the improved construction method for IQC framework, provisional and permanent frames were established for batches within Blood Center 1 and Blood Center 9, followed by outlier determination. Results: 1) Statistically significant differences were observed in IQC data between batches within Blood Center 1 (P<0.01). It is recommended that both the control material/reagents and the control chart framework be replaced simultaneously. 2) There were substantial differences among 9 blood centers regarding the control material/reagent lot numbers used, the number of QC runs per batch, and the QC values for identical lots. Therefore, individual laboratories should establish their own IQC chart frameworks. 3) The improved IQC framework construction method for ELISA assays is as follows: provisional frames are established via frame-shifting, using the pre-experimental mean and cumulative coefficient of variation (CV) from the preceding batch. For batches used >20 days with >20 QC points, permanent frames are constructed by aggregating in-control data accumulated over ≥20 days with ≥20 points to calculate cumulative mean and standard deviation. The provisional and permanent frames constructed by this method identified all 26 extreme outliers across Blood Centers 1 and 9 as out-of-control. Among the 218 general outliers, 10 were classified as normal by the provisional frames, while the remainder were designated as warnings or out-of-control. This method effectively monitors assay stability. Conclusion: Based on the statistical analysis of IQC practices across blood centers of varying scales, combined with the inherent characteristics of ELISA assays and the batch-to-batch instability of reagents/QC materials, it is recommended to reconstruct QC charts upon lot changes. The proposed method—utilizing frame-shifting for provisional frames and establishing permanent frames based on cumulative data—is applicable to blood center laboratories of differing sizes and effectively monitors the stability of the ELISA assay process.

OBJECTIVE: To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genotype-phenotype correlation analysis within the Chinese population through an extensive literature review. METHODS: A 5-year-old girl presenting with seizures without an obvious cause was enrolled in September 2020. Genomic DNA was extracted from the patient and her parents. Whole exome sequencing (WES) was performed on the proband to identify suspected pathogenic variants based on her clinical phenotype. Sanger sequencing was used for validation, followed by bioinformatic analysis of the variant. Additionally, data from 54 previously reported Chinese cases with SYNGAP1 variants were integrated to summarize the distribution of variant types and clinical characteristics. Ethical approval was obtained from the Ethics Committee of Kunming Children's Hospital (Ethics No.: 2021-03-055-K01). RESULTS: WES identified a heterozygous nonsense variant, SYNGAP1 c.725G>A (p.Trp242*), in the proband. Sanger sequencing confirmed it was a de novo variant. According to the ACMG guidelines, this variant was classified as pathogenic (PVS1+PS2). Based on the clinical manifestations, the patient was diagnosed with MRD5. Bioinformatic analysis suggested that this variant introduces a premature stop codon at tryptophan 242, disrupting the PH domain and leading to the loss of the C2, Ras-GAP, and C-terminal domains. The pooled analysis of Chinese cases revealed that nonsense (38.2%) and frameshift (36.4%) variants were the predominant types. Intellectual disability/developmental delay was present in 100.0% of patients, epilepsy in 83.6%, and autism spectrum disorder in 41.3%. The incidence of epilepsy differed significantly among variant types (P = 0.045). Exons 8 and 15 were identified as mutation hotspots. CONCLUSION This study has identified a SYNGAP1 c.725G>A variant in the Chinese population and confirmed it as a potential cause of MRD5, which expanded the mutational spectrum of this disorder.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; ras GTPase-Activating Proteins/genetics* ; Phenotype ; Exome Sequencing ; Genetic Association Studies

Objective: To investigate the correlation between color parameters (L^*, a^*, b^*, Eab^*) and the contents of reducing sugars, total polysaccharides, total oligosaccharides, as well as four saccharides (fructose, glucose, sucrose, and kestose) during the nine cycles of steaming and sun-drying processing of Polygonatum kingianum, and to preliminarily explore the optimal processing duration.
Methods: The color changes were objectively evaluated using a colorimeter. The anthrone-sulfuric acid method was employed to determine total polysaccharides and oligosaccharides. The 3,5-dinitrosalicylic acid (DNS) colorimetric method was used to measure total reducing sugar content. High-performance liquid chromatography coupled with charged aerosol detection (HPLC-CAD) was applied for quantitative analysis of fructose, glucose, sucrose, and kestose. Multivariate statistical analysis was conducted to assess samples from different processing stages.
Results: Significant variations in color and component contents were observed across processing stages. The herbal pieces progressively darkened with increased processing cycles: brightness (L^*) and total color difference (Eab^*) initially decreased then stabilized, while a^* (red-green) and b^* (yellow-blue) values first increased then declined. Total polysaccharides and oligosaccharides showed overall decreasing trends, whereas reducing sugars initially increased before stabilizing. Fructose and glucose levels rose continuously, while sucrose and kestose decreased progressively, becoming undetectable after five cycles.
Conclusion: The chromatic alteration and saccharide composition of P. kingianum showed significant correlation with processing duration. Both total color difference (Eab^*) and reducing sugar content stabilized after four processing cycles (12 hours), suggesting that four cycles of steaming and sun-drying may represent the optimal processing duration.

ObjectiveTo address the shortage of high-caliber multidisciplinary professionals in China's rehabilitation engineering field and the prominent issue of "separation between medicine and engineering" in existing curricula, this study introduces the World Health Organization rehabilitation competency framework (RCF) to construct a systematic curriculum system for rehabilitation engineering. MethodsGuided by the four core competency domains of RCF (practice, professionalism, learning and development, management and leadership) and their associated supporting knowledge, the rehabilitation engineering curriculum was restructured into a modular framework, piloted and validated within the Biomedical Engineering (Intelligent Robotics) program at University of Health and Rehabilitation Sciences. ResultsA four-tiered curriculum system comprising General Education-Disciplinary Platform-Professional Core-Diverse Electives with a total of 160 credits was established, achieving precise mapping between competency objectives and course content. The students in the pilot cohort demonstrated outstanding academic performance (50% ranked in the top ten of their major), they also gained a deeper understanding and mastery of interdisciplinary knowledge integrating medicine and engineering. ConclusionThe RCF-based curriculum system effectively promotes the organic integration of medical and engineering knowledge, providing an internationally aligned competency-oriented paradigm for rehabilitation engineering talent cultivation, which holds significant value for broader application.

Objective:To analyze the genetic characteristics of the VWF gene c.7332G＞A nonsense mutation and explore its molecular pathogenesis.Methods:Phenotypic diagnosis of the proband was performed using VWF:Ag,VWF:RCo,FⅧ:C and multimeric analysis.The probands were genotyped by NGS whole-exome sequencing,and the sequencing results were validated by sanger sequencing.The family members were genotyped by Sanger sequencing.The VWF gene c.7332G＞A nonsense mutant plasmid was constructed.After transfection,the function of VWF gene c.7332G＞A mutant plasmid was verified at cell level in vitro.The mRNA level was detected by qRT-PCR,and the expression level of protein was detected by Western blot,the function of multimerization was verified by the multimeric analysis.Results:VWF:Ag and VWF:RCo were all less than 3％in the proband,and the multimeric analysis showed multimer deficiency.The proband was diagnosed as type 3 VWD.The homozygous nonsense mutation of VWF gene c.7332G＞A was detected by gene sequencing.The VWF mRNA level of the mutant plasmid was decreased,and the VWF protein expression in the cell supernatant was decreased,the mutant protein was truncated and the function of VWF multimerization was impaired.Conclusion:A homozygous mutation in exon 43 of VWF gene,c.7332G＞A,was responsible for the probands type 3 VWD in the proband.The mutation caused a decrease in the relative level of VWF mRNA and protein,and impaired the function of VWF multimerization.

Objective The aim is to understand the common scenarios of non-medical use of prescription opioids(NMUPO)and analyze the potential facilitating and hindering factors in the regulatory process of NMUPO from the perspective of healthcare professionals.Methods Healthcare professionals in local hospitals were surveyed through a two-stage purposive sampling from June to August 2022 in Ningbo,China.The survey was conducted using a semi-structured questionnaire on topics,and thematic analysis were used to identify and summarise key themes and patterns.Results A total of 75 participants were included,the average age was(43.9±7.2)years,and 54(72.0%)were male.The most common NMUPO scenarios involved middle-aged males pretending acute severe pain to obtain injectable opioids.The facilitating and hindering factors related to the regulation of NMUPO can be categorized into three types:institutional governance,technical support,and individual behaviors.At the institutional level,facilitating factors included strict national prescribing policies and local"narcotic drug card"systems,while barriers comprised incomplete lists of controlled substances.At the technological support level,facilitating factors included the establishment of regional health information platforms,while barriers included the lack of standardized prescription guidelines and diagnostic decision-support tools.At the individual level,facilitating factors included the public's cautious attitude toward drug misuse,while barriers included strained doctor-patient relationships.Conclusion China still faces significant challenges in addressing NMUPO and urgently needs to improve the existing regulatory system.It is recommended that reforms be carried out in areas such as pharmaceutical control mechanisms,drug treatment and rehabilitation services,preventive health education activities,and the optimized use of health information systems.

Objective:To investigate the situation of mild cognitive impairment (MCI) in elderly people in fluorosis areas, and analyze its potential influencing factors.Methods:From April to October 2020, a cluster random sampling method was used to select local elderly people aged 60 and older in areas of drinking-water-borne endemic fluorosis in Tianjin, and their general information was collected through face-to-face surveys. Terminal drinking water samples were collected from survey subjects. Water fluoride concentration was measured using ion-selective electrode method. Cognitive function was evaluated using the Mini-Mental State Examination (MMSE), and survey subjects were categorized into MCI group and control group based on MMSE scores. Logistic regression and Chi-squared automatic interaction detection classification tree models were constructed to analyze the influencing factors of MCI.Results:A total of 677 subjects were included, including 160 cases in the MCI group and 517 cases in the control group, with a MCI detection rate of 23.63%. The detection rates of MCI in the high fluoride exposure group and non high fluoride exposure group were 30.82% (94/305) and 17.74% (66/372), respectively, with a statistically significant difference between the groups (χ 2 = 15.88, P < 0.001). The results of univariate analysis showed that MCI was associated with high fluoride exposure, age, per capita annual household income, sleep duration, personality, and interpersonal relationships (χ 2 = 15.88, 16.17, 12.32, 8.91, 14.03, 9.81, P < 0.05). The results of multiple logistic regression analysis showed that moderate interpersonal relationships ( OR = 2.13, 95% CI: 1.08, 4.20) and high fluoride exposure ( OR = 1.91, 95% CI: 1.03, 3.54) were both risk factors for MCI ( P < 0.05). The classification tree model analysis result showed that high fluoride exposure was the primary factor affecting MCI in elderly people in fluorosis areas, followed by per capita annual household income, personality, and age. Conclusions:The detection rate of MCI in the high fluoride exposure group of elderly people in fluorosis areas is higher than that in the non high fluoride exposure group. High fluoride exposure, interpersonal relationships, per capita annual household income, personality, and age are all influencing factors of MCI in elderly people in fluorosis areas.

Objective:To learn about the iodine nutrition status of pregnant women in Tianjin and analyze the influencing factors of moderate to severe iodine deficiency in pregnant women.Methods:From January 2022 to December 2024, a stratified random sampling method was adopted. Each year, five sampling areas were divided into the east, west, south, north and central directions in 16 districts of Tianjin. Ten pregnant women from one township/street in each area were selected for questionnaire surveys. Household salt samples and random urine samples were collected to measure salt iodine and urinary iodine levels. Multivariate logistic regression was used to analyze the influencing factors of moderate to severe iodine deficiency in pregnant women, and a restricted cubic spline model was used to analyze the dose-response relationship between the risk of moderate to severe iodine deficiency in pregnant women and salt iodine level.Results:A total of 2 532 pregnant women in Tianjin were surveyed, with an age of (30.70 ± 4.44) years. Among them, 53.20% (1 347/2 532) had received health education, and 52.45% (1 328/2 532) actively supplemented iodine. A total of 2 532 household salt samples of pregnant women were tested, with a median salt iodine level of 23.66 mg/kg. The coverage rate of iodized salt was 74.45% (1 885/2 532), the qualified rate of iodized salt was 87.59% (1 651/1 885), and the consumption rate of qualified iodized salt was 65.21% (1 651/2 532). A total of 2 532 urine samples of pregnant women were tested, with a median urinary iodine level of 151.68 μg/L. Among them, 652, 1 348 and 532 urine samples were collected from pregnant women in the early, middle, and late stages of pregnancy, respectively, with median urinary iodine levels of 150.80, 153.00 and 143.68 μg/L, respectively. Multivariate logistic regression analysis showed that consuming iodized salt was a protective factor for the moderate to severe iodine deficiency in pregnant women ( OR = 0.70, 95% CI: 0.58 - 0.86, P < 0.001). Restricted cubic spline analysis showed that there was a linear dose-response relationship between the risk of moderate to severe iodine deficiency in pregnant women and salt iodine level ( Poverall < 0.001, Pnonlinear = 0.065). Further stratified analysis revealed that there was a linear dose-response relationship between the risk of moderate to severe iodine deficiency in pregnant women who had received iodine supplementation and salt iodine level ( Poverall = 0.018, Pnonlinear = 0.554), while there was a nonlinear dose-response relationship between the risk of moderate to severe iodine deficiency in pregnant women who had not received iodine supplementation and salt iodine level ( Poverall < 0.001, Pnonlinear = 0.029). Conclusions:From 2022 to 2024, the overall iodine level of pregnant women in Tianjin is appropriate, but some pregnant women are at risk of iodine deficiency. Consuming iodized salt is a protective factor against the moderate to severe iodine deficiency in pregnant women. It is still necessary to further implement comprehensive prevention and control measures mainly based on iodized salt.

Objective:To investigate the prevalence of dental fluorosis in children in Tianjin and study its influencing factors.Methods:From January to December 2023, 5 affected villages were selected from each of the drinking water-borne endemic fluorosis (drinking water-borne fluorosis for short) areas of 10 agricultural areas in Tianjin, and 50 children aged 8 - 12 years (gender and age balanced) were selected from each affected village for questionnaire survey and dental fluorosis examination. At the same time, water samples from affected villages and children's one random urine sample were collected to test for fluoride levels in water and urine. Multivariate logistic regression was used to analyze the influencing factors of dental fluorosis prevalence in children, and a restricted cubic spline model was used to analyze the dose-response relationship between the years of water improvement and dental fluorosis prevalence.Results:A total of 50 water samples were collected, with water fluoride levels ranging from 0.05 to 0.85 mg/L. All affected villages had completed the water improvement and the water fluoride levels were qualified. A total of 2 439 urine samples were collected from children, with urinary fluoride levels ranging from 0.05 to 12.56 mg/L and a geometric mean of 0.82 mg/L. A total of 2 439 children were examined for dental fluorosis, with a detection rate of 22.67% (553/2 439). The results of multivariate logistic regression analysis showed that age ( OR = 1.26, 95% CI: 1.15 - 1.37, P < 0.001), father's education level of junior high school or below ( OR = 1.57, 95% CI: 1.04 - 2.38, P = 0.033), and high urinary fluoride (0.74 - 1.58 mg/L: OR = 1.59, 95% CI: 1.19 - 2.13, P = 0.002; 1.59 - 12.56 mg/L: OR = 2.00, 95% CI: 1.48 - 2.70, P < 0.001) were risk factors for dental fluorosis prevalence in children. The total annual household income with 40 000 to 80 000 yuan ( OR = 0.76, 95% CI: 0.58 - 0.99, P = 0.041), father's occupation was self-employed and other occupation ( OR = 0.69, 95% CI: 0.51 - 0.92, P = 0.013), the years of water improvement in affected villages ≥10 years ( OR = 0.39, 95% CI: 0.30 - 0.50, P < 0.001), and the material of the drinking water container at home was stainless steel products ( OR = 0.58, 95% CI: 0.40 - 0.85, P = 0.005), ceramic or glass products ( OR = 0.66, 95% CI: 0.48 - 0.90, P = 0.010) were protective factors for dental fluorosis prevalence in children. By constructing a restricted cubic spline model, it was found that there was a linear dose-response relationship between the prevalence of dental fluorosis in children and the years of water improvement in affected villages ( Poverall < 0.001, Pnonlinear = 0.059). The longer the years of water improvement, the lower the risk of dental fluorosis prevalence. Conclusions:The detection rate of dental fluorosis in children in Tianjin is relatively high. The fluoride reduction and water improvement measures implemented in drinking water-borne fluorosis areas can effectively reduce the risk of dental fluorosis prevalence. Factors such as age, urinary fluoride, economic conditions, and lifestyle also have important impacts on the prevalence of dental fluorosis.