Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To investigate the correlation between relative fat mass(RFM)and Estimated Glomerular Filtration Rate(eGFR)in an elderly hypertensive population.Methods:This cross-sectional study enrolled elderly hypertensive individuals aged 65 years and older from Huai'an city between June 2023 and December 2023.Clinical data for these subjects were collected, and RFM and eGFR were calculated according to established formulas.Subsequently, the subjects were divided into two groups based on their eGFR levels: the eGFR normal group and the eGFR decreased group.Differences between these two groups were compared.Multivariate logistic regression models were employed to analyze the association between RFM and eGFR, and a subgroup analysis was conducted.The predictive value of RFM for renal function decline was evaluated using receiver operating characteristic curves(ROC).Results:Among the 2, 603 subjects, 921(35.4%)were assigned to the eGFR decreased group, while 1, 682(64.6%)were assigned to the eGFR normal group.The proportion of males, married individuals, smokers, and alcohol drinkers, as well as diastolic blood pressureand cultural levels, were significantly lower in the eGFR decreased group compared to the eGFR normal group (all P<0.05). Conversely, the duration of hypertension, proportion of comorbidities, age, fasting blood glucose, triglycerides, low-density lipoprotein cholesterol(LDL-C), relative fat mass(RFM), visceral fat index(VAI), dysfunctional obesity index(DAI), body roundness index(BRI), and conicity index(C-index)were all significantly higher in the eGFR decreased group compared to the eGFR normal group(all P<0.05). After adjusting for confounding factors, multivariate logistic regression analysis revealed that when RFM was treated as a continuous variable, the risk of eGFR decline increased with rising RFM(odds ratio[ OR]=1.035, 95% confidence interval[95% CI]: 1.008-1.063, P=0.010). When grouped according to RFM quartile levels(in ascending order)into Q1(<26.22), Q2(26.22-<30.53), Q3(30.53-<39.26), and Q4(≥39.26), using the Q1 group as a reference, the risk of eGFR decline increased in the Q3( OR=1.691, 95% CI: 1.777-2.430, P=0.004)and Q4( OR=1.743, 95% CI: 1.118-2.717, P=0.014)groups.In the subgroup analysis, gender( P-interaction=0.034)and smoking( P-interaction=0.012)were identified as having significant interaction effects on RFM and the decline in eGFR.In the male subgroup( OR=1.067, 95% CI: 1.027-1.108, Ptrend=0.001)and the smoking subgroup( OR=1.109, 95% CI: 1.026-1.199, Ptrend=0.009), the risk of eGFR decline significantly increased with higher levels of RFM.The restricted cubic spline(RCS)analysis indicated that when RFM exceeded 30.609, the risk of eGFR decline increased with rising RFM levels, demonstrating a non-linear correlation between RFM and the risk of eGFR decline( Pnonlinearity=0.048 5). The ROC curve analysis revealed that the area under the curve(AUC)for RFM in predicting eGFR reduction was 0.635(95% CI: 0.613-0.657, P1<0.001), which was significantly higher than the AUC for VAI(AUC=0.573, 95% CI: 0.550-0.596, P2<0.001), DAI(AUC=0.562, 95% CI: 0.539-0.584, P2<0.001), BRI(AUC=0.564, 95% CI: 0.541-0.587, P2<0.001), and the C-index(AUC=0.536, 95% CI: 0.513-0.559, P2<0.001). Conclusions:Elevated RFM is an independent risk factor for eGFR decline in elderly hypertensive individuals.There exists a significant interaction between gender and smoking with respect to the risk of RFM and eGFR decline.Additionally, RFM demonstrates a notable predictive value for eGFR decline in elderly hypertensive individuals.

Objective:To investigate the correlation between relative fat mass(RFM)and Estimated Glomerular Filtration Rate(eGFR)in an elderly hypertensive population.Methods:This cross-sectional study enrolled elderly hypertensive individuals aged 65 years and older from Huai'an city between June 2023 and December 2023.Clinical data for these subjects were collected, and RFM and eGFR were calculated according to established formulas.Subsequently, the subjects were divided into two groups based on their eGFR levels: the eGFR normal group and the eGFR decreased group.Differences between these two groups were compared.Multivariate logistic regression models were employed to analyze the association between RFM and eGFR, and a subgroup analysis was conducted.The predictive value of RFM for renal function decline was evaluated using receiver operating characteristic curves(ROC).Results:Among the 2, 603 subjects, 921(35.4%)were assigned to the eGFR decreased group, while 1, 682(64.6%)were assigned to the eGFR normal group.The proportion of males, married individuals, smokers, and alcohol drinkers, as well as diastolic blood pressureand cultural levels, were significantly lower in the eGFR decreased group compared to the eGFR normal group (all P<0.05). Conversely, the duration of hypertension, proportion of comorbidities, age, fasting blood glucose, triglycerides, low-density lipoprotein cholesterol(LDL-C), relative fat mass(RFM), visceral fat index(VAI), dysfunctional obesity index(DAI), body roundness index(BRI), and conicity index(C-index)were all significantly higher in the eGFR decreased group compared to the eGFR normal group(all P<0.05). After adjusting for confounding factors, multivariate logistic regression analysis revealed that when RFM was treated as a continuous variable, the risk of eGFR decline increased with rising RFM(odds ratio[ OR]=1.035, 95% confidence interval[95% CI]: 1.008-1.063, P=0.010). When grouped according to RFM quartile levels(in ascending order)into Q1(<26.22), Q2(26.22-<30.53), Q3(30.53-<39.26), and Q4(≥39.26), using the Q1 group as a reference, the risk of eGFR decline increased in the Q3( OR=1.691, 95% CI: 1.777-2.430, P=0.004)and Q4( OR=1.743, 95% CI: 1.118-2.717, P=0.014)groups.In the subgroup analysis, gender( P-interaction=0.034)and smoking( P-interaction=0.012)were identified as having significant interaction effects on RFM and the decline in eGFR.In the male subgroup( OR=1.067, 95% CI: 1.027-1.108, Ptrend=0.001)and the smoking subgroup( OR=1.109, 95% CI: 1.026-1.199, Ptrend=0.009), the risk of eGFR decline significantly increased with higher levels of RFM.The restricted cubic spline(RCS)analysis indicated that when RFM exceeded 30.609, the risk of eGFR decline increased with rising RFM levels, demonstrating a non-linear correlation between RFM and the risk of eGFR decline( Pnonlinearity=0.048 5). The ROC curve analysis revealed that the area under the curve(AUC)for RFM in predicting eGFR reduction was 0.635(95% CI: 0.613-0.657, P1<0.001), which was significantly higher than the AUC for VAI(AUC=0.573, 95% CI: 0.550-0.596, P2<0.001), DAI(AUC=0.562, 95% CI: 0.539-0.584, P2<0.001), BRI(AUC=0.564, 95% CI: 0.541-0.587, P2<0.001), and the C-index(AUC=0.536, 95% CI: 0.513-0.559, P2<0.001). Conclusions:Elevated RFM is an independent risk factor for eGFR decline in elderly hypertensive individuals.There exists a significant interaction between gender and smoking with respect to the risk of RFM and eGFR decline.Additionally, RFM demonstrates a notable predictive value for eGFR decline in elderly hypertensive individuals.

As one of the core theories of spleen governing transportation and transformation in the traditional Chinese medicine visceral manifestation theory,the modern biological basis of"spleen qi disperses essence"has not been fully elucidated.Lipids are one of the three major nutrients in the body,which are derived from exogenous absorption or endogenous transformation,and belong to the category of"grease"and"essence"substances in traditional Chinese medicine.Because of their hydrophobic nature,lipids require apolipoproteins to be transported in the bloodstream and used by the body;similarly,essence also needs spleen qi transformation to be distributed throughout the body and exert their nourishing effects,revealing a certain degree of inherent unity between the two.When the spleen qi functions properly,essence dispersal is orderly and lipid metabolism remains in homeostatic balance;if spleen deficient leads to impaired transportation,the essence will not be distributed,and the lipid turbidity will accumulate,causing disease.Classic strengthening spleen prescriptions such as Zexie Decoction,can reshape lipid homeostasis by regulating apolipoproteins.Based on apolipoprotein-mediated lipid metabolism,this paper explores the modern molecular biology basis of the theory of"spleen qi disperses essence,"which provides novel insights for enriching the modern research of traditional Chinese medicine visceral manifestation theory,and lays the foundation for clinical practice and theoretical innovation in the treatment of metabolic diseases from the spleen.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

ObjectiveTo elucidate the critical role of rehabilitation medical records (including electronic records) in rehabilitation medicine's clinical practice and management, comprehensively analyzed the structure, core content and data standards of rehabilitation medical records, to develop a standardized medical record data architecture and core dataset suitable for rehabilitation medicine and to explore the application of rehabilitation data in performance evaluation and payment. MethodsBased on the regulatory documents Basic Specifications for Medical Record Writing and Basic Specifications for Electronic Medical Records (Trial) issued by National Health Commission of China, and referencing the World Health Organization (WHO) Family of International Classifications (WHO-FICs) classifications, International Classification of Diseases (ICD-10/ICD-11), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), this study constructed the data architecture, core content and data standards for rehabilitation medical records. Furthermore, it explored the application of rehabilitation record summary sheets (home page) data in rehabilitation medical statistics and payment methods, including Diagnosis-related Groups (DRG), Diagnosis-Intervention Packet (DIP) and Case Mix Index. ResultsThis study proposed a systematic standard framework for rehabilitation medical records, covering key components such as patient demographics, rehabilitation diagnosis, functional assessment, rehabilitation treatment prescriptions, progress evaluations and discharge summaries. The research analyzed the systematic application methods and data standards of ICD-10/ICD-11, ICF and ICHI Beta-3 in the fields of medical record terminology, coding and assessment. Constructing a standardized data structure and data standards for rehabilitation medical records can significantly improve the quality of data reporting based on the medical record summary sheet, thereby enhancing the quality control of rehabilitation services, effectively supporting the optimization of rehabilitation medical insurance payment mechanisms, and contributing to the establishment of rehabilitation medical performance evaluation and payment based on DRG and DIP. ConclusionStructured rehabilitation records and data standardization are crucial tools for quality control in rehabilitation. Systematically applying the three reference classifications of the WHO-FICs, and aligning with national medical record and electronic health record specifications, facilitate the development of a standardized rehabilitation record architecture and core dataset. Standardizing rehabilitation care pathways based on the ICF methodology, and developing ICF- and ICD-11-based rehabilitation assessment tools, auxiliary diagnostic and therapeutic systems, and supporting terminology and coding systems, can effectively enhance the quality of rehabilitation records and enable interoperability and sharing of rehabilitation data with other medical data, ultimately improving the quality and safety of rehabilitation services.

ObjectiveTo explore the data standard system of electronic medical records in the field of rehabilitation, focusing on the terminology and coding standards, data structure, and key content categories of rehabilitation electronic medical records. MethodsBased on the Administrative Norms for the Application of Electronic Medical Records issued by the National Health Commission of China, the electronic medical record standard architecture issued by the International Organization for Standardization and Health Level Seven (HL7), the framework of the World Health Organization Family of International Classifications (WHO-FICs), Basic Architecture and Data Standards of Electronic Medical Records, Basic Data Set of Electronic Medical Records, and Specifications for Sharing Documents of Electronic Medical Records, the study constructed and organized the data structure, content, and data standards of rehabilitation electronic medical records. ResultsThe data structure of rehabilitation electronic medical records should strictly follow the structure of electronic medical records, including four levels (clinical document, document section, data set and data element) and four major content areas (basic information, diagnostic information, intervention information and cost information). Rehabilitation electronic medical records further integrated information related to rehabilitation needs and characteristics, emphasizing rehabilitation treatment, into clinical information. By fully applying the WHO-FICs reference classifications, rehabilitation electronic medical records could establish a standardized framework, diagnostic criteria, functional description tools, coding tools and terminology index tools for the coding, indexing, functional description, and analysis and interpretation of diseases and health problems. The study elaborated on the data structure and content categories of rehabilitation electronic medical records in four major categories, refined the granularity of reporting rehabilitation content in electronic medical records, and provided detailed data reporting guidance for rehabilitation electronic medical records. ConclusionThe standardization of rehabilitation electronic medical records is significant for improving the quality of rehabilitation medical services and promoting the rehabilitation process of patients. The development of rehabilitation electronic medical records must be based on the national and international standards. Under the general electronic medical records data structure and standards, a rehabilitation electronic medical records data system should be constructed which incorporates core data such as disease diagnosis, functional description and assessment, and rehabilitation interventions. The standardized rehabilitation electronic medical records scheme constructed in this study can support the improvement of standardization of rehabilitation electronic medical records data information.

ObjectiveTo analyze the data structure and standards of rehabilitation outpatient medical records, to provide data support for improving the quality of rehabilitation outpatient care and developing medical insurance payment policies. MethodsBased on the normative documents issued by the National Health Commission, Basic Standards for Medical Record Writing and Standards for Electronic Medical Record Sharing Documents, in accordance with the Quality Management Regulations for Outpatient (Emergency) Diagnosis and Treatment Information Pages (Trial), reference to the framework of the World Health Organization Family of International Classifications (WHO-FICs), the data framework and content of rehabilitation outpatient medical records were determined, and the data standards were discussed. ResultsThis study constructed a data framework for rehabilitation outpatient medical records, including four main components: patient basic information, visit process information, diagnosis and treatment information, and cost information. Three major reference classifications of WHO-FICs, International Classification of Diseases, International Classification of Functioning, Disability and Health, and International Classification of Health Interventions,were used to establish diagnostic standards and standardized terminology, as well as coding disease diagnosis, functional description, functional assessment, and rehabilitation interventions, to improve the quality of data reporting, and level of quality control in rehabilitation. ConclusionThe structuring and standardization of rehabilitation outpatient medical records are the foundation for sharing of rehabilitation data. The using of the three major classifications of WHO-FICs is valuable for the terminology and coding of disease diagnosis, functional description and assessment, and intervention in rehabilitation outpatient medical records, which is significant for sharing and interconnectivity of rehabilitation outpatient data, as well as for optimizing the quality and safety of rehabilitation medical services.

ObjectiveTo explore the standardization of inpatient rehabilitation medical record summary sheet, encompassing its structure, content and data standards, to enhance the standardization level of inpatient rehabilitation medical record summary sheet, improve data reporting quality, and provide accurate data support for medical insurance payment, hospital performance evaluation, and rehabilitation discipline evaluation. MethodsBased on the relevant specifications of the National Health Commission's Basic Norms for Medical Record Writing, Specifications for Sharing Documents of Electronic Medical Records, and Quality Management and Control Indicators for Inpatient Medical Record Summary Sheet (2016 Edition), this study analyzed the structure and content of the inpatient rehabilitation medical record summary sheet. The study systematically applied the three major reference classifications of the World Health Organization Family of International Classifications, International Classification of Diseases (ICD-10/ICD-11, ICD-9-CM-3), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), for disease diagnosis, functional description and assessment, and rehabilitation intervention, forming a standardized terminology system and coding methods. ResultsThe inpatient rehabilitation medical record summary sheet covered four major sections: inpatient information, hospitalization information, diagnosis and treatment information, and cost information. ICD-10/ICD-11 were the standards and coding tools for admission and discharge diagnoses in the inpatient rehabilitation medical record summary sheet. The three functional assessment tools recommended by ICD-11, the 36-item version of World Health Organization Disability Assessment Schedule 2.0, Brief Model Disability Survey and Generic Functioning domains, as well as ICF, were used for rehabilitation functioning assessment and the coding of outcomes. ICHI Beta-3 and ICD-9-CM-3 were used for coding surgical procedures and operations in the medical record summary sheet, and also for coding rehabilitation intervention items. ConclusionThe inpatient rehabilitation medical record summary sheet is a summary of the relevant content of the rehabilitation medical record and a tool for reporting inpatient rehabilitation data. It needs to be refined and optimized according to the characteristics of rehabilitation, with necessary data supplemented. The application of ICD-11/ICD-10, ICF and ICHI Beta-3/ICD-9-CM-3 classification standards would comprehensively promote the accuracy of inpatient diagnosis of diseases and functions. Based on ICD-11 and ICF, relevant functional assessment result data would be added, and ICHI Beta-3/ICD-9-CM-3 should be used to code rehabilitation interventions. Improving the quality of rehabilitation medical records and inpatient rehabilitation medical record summary sheet is an important part of rehabilitation quality control, and also lays an evidence-based data foundation for the analysis and application of inpatient rehabilitation medical record summary sheet.

ObjectiveTo investigate the characteristics of mitochondrial translational initiation factor 2 （MTIF2） gene methylation and its association with the development and progression of hepatocellular carcinoma （HCC）. MethodsMethSurv and EWAS Data Hub were used to perform the standardized analysis and the cluster analysis of MTIF2 methylation samples， including survival curve analysis， methylation signature analysis， the association of tumor signaling pathways， and a comparative analysis based on pan-cancer database. The independent-samples t test was used for comparison between two groups； a one-way analysis of variance was used for comparison between multiple groups， and the least significant difference t-test was used for further comparison between two groups. The Cox proportional hazards model was used to perform the univariate and multivariate survival analyses of methylation level at the CpG site. The Kaplan-Meier method was used to investigate the survival differences between the patients with low methylation level and those with high methylation level， and the Log-likelihood ratio method was used for survival difference analysis. ResultsGlobal clustering of MTIF2 methylation showed that there was no significant difference in MTIF2 gene methylation level between different races， ethnicities， BMI levels， and ages. The Kaplan-Meier survival curve analysis showed that the patients with N-Shore hypermethylation of the MTIF2 gene had a significantly better prognosis than those with hypomethylation （hazard ratio ［HR］=0.492， P<0.001）， while there was no significant difference in survival rate between the patients with different CpG island and S-Shore methylation levels （P>0.05）. The methylation profile of the MTIF2 gene based on different ages， sexes， BMI levels， races， ethnicities， and clinical stages showed that the N-Shore and CpG island methylation levels of the MTIF2 gene decreased with the increase in age， and the Caucasian population had significantly lower N-Shore methylation levels of the MTIF2 gene than the Asian population （P<0.05）； the patients with clinical stage Ⅳ had significantly lower N-Shore and CpG island methylation levels of the MTIF2 gene than those with stage Ⅰ/Ⅱ （P<0.05）. Clinical validation showed that the patients with stage Ⅲ/Ⅳ HCC had a significantly lower methylation level of the MTIF2 gene than those with stage Ⅰ/Ⅱ HCC and the normal population （P<0.05）. ConclusionN-Shore hypomethylation of the MTIF2 gene is a risk factor for the development and progression of HCC.