Objective:To understand the current status of health management cognition and healthcare behaviors of community residents in Shanghai, and to analyze their related influencing factors, in order to promote the optimization of proactive health-oriented health management strategies.Methods:This study was a cross-sectional survey. From February to May 2023, 1-4 community health service centers were randomly selected from each administrative district in Shanghai by stratified random sampling using the random number table method. Ultimately, 28 community health service centers were selected as research sites. The research team then used convenience sampling method to select at least 50 patients as research subjects from those visiting each selected center. A total of 1 436 community residents were included in this study in the form of on-site completion of questionnaire stars, and the study covered the residents′ level of health management cognition, chronic disease management, intention to seek medical care, physical examination behavior, and handling of abnormal values. Multiple regression analysis was used to assess the correlation between health management cognition and medical consultation behavior and their influencing factors.Results:The results of the health management awareness survey showed that 827 residents (57.6%) had a relatively high level of awareness. Among the 755 residents (52.6%) with chronic diseases, the proportion of self-assessed stable control was significantly higher in the high-cognition group (318 (76.0%)) than that in the low-cognition group (223 (66.2%)), and the difference was statistically significant ( χ2=9.01, P=0.003). Multiple regression analysis showed that females ( OR=1.293, 95% CI: 1.028-1.627),≤44 years old and 45-59 years old ( OR=2.328, 95% CI: 1.648-2.328; OR=1.351, 95% CI: 1.035-1.763), bachelor′s degree or above ( OR=1.784, 95% CI: 1.256-2.534), living in suburban area ( OR=1.577, 95% CI: 1.235-2.014), use of employee health insurance and resident health insurance ( OR=2.294, 95% CI: 1.629-3.232; OR=1.628, 95% CI: 1.149-2.306), suffering from a chronic disease ( OR=3.110, 95% CI: 1.918-5.042), and having a contracted family doctor ( OR=1.870, 95% CI: 1.431-2.442) were all positive correlation with health management perception(all P<0.05). In terms of health care behavior, 908 (63.2%) residents showed a high active intention to seek medical care, and 906 (63.1%) and 796 (55.4%) residents showed active participation in medical check-ups and timely handling of medical check-up abnormal values, respectively. Residents in the high awareness group were significantly better than those in the low awareness group in terms of intention to seek medical care ( χ2=33.26), mode of medical checkups ( χ2=110.71), frequency of medical checkups ( χ2=45.37), and the way of dealing with abnormal values after medical checkups ( χ2=93.14), with the difference being statistically significant(all P<0.05). The results of linear regression analysis of the factors influencing the medical behavior of community residents showed that age≤44 and 45-59 ( B=0.479, 0.167), high school and specialist versus bachelor′s degree and above ( B=0.465, 0.739), use of employee medical insurance and residents′ health insurance ( B=0.604, 0.420), the number of current chronic diseases 1 ( B=0.919) and contracted family doctor ( B=0.134) of community residents′ health care behaviors are better (all P<0.05). Conclusions:The level of community residents′ health management cognition needs to be improved, and high health management cognition can significantly promote proactive healthcare-seeking behavior. However, residents′ medical behavior is still influenced by multidimensional factors. Signing a contract with a family doctor is significantly associated with high cognition and quality healthcare behaviors.

Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.

Objective:To investigate the current status of the implementation of active health management in tumor care in community health service institutions in Shanghai.Methods:This cross-sectional study was conducted in July 2022. A questionnaire was designed based on tumor management practices according to active health principles was designed and distributed to all 247 community health service institutions in 16 administrative districts of Shanghai. Data were collected on tumor screening, establishment of health records for tumor patients, and follow-up practices.Results:Of the 247 questionnaires distributed, 239 were returned, with 228 valid responses (effective response rate: 92.3%). Of the 228 institutions, 72 (31.6%) were located in urban areas, 101 (44.3%) in suburban areas, and 55 (24.1%) in rural areas. Tumor screening was performed by 89.0% (203/228) of the institutions, mainly for colorectal, lung, liver, breast, and gastric cancers. Health records for tumor patients were established by 92.5% (211/228) of institutions. Follow-up of tumor patients was conducted by 99.1% (226/228) of institutions, with 29.6% (67/226) performing 1-2 annual follow-ups. Telephone follow-up was used by 99.1% (224/226) of institutions, while 42.5% (96/226) adjusted the frequency of follow-up based on patients′ Karnofsky Performance Status scores. Targeted health education for patients and families was provided by 84.6% (193/228) of institutions, including exercise guidance (78.8%, 152/193) and psychological support (76.2%, 147/193). No statistically significant differences were observed among urban, suburban, and rural institutions in tumor screening, health record establishment, follow-up frequency, assessment content, follow-up methods, and tumor health education and content (all P>0.05). Conclusions:The coverage of tumor screening in Shanghai′s community health service institutions remains incomplete, the quality of follow-up needs to be improved, and health education programs are not comprehensive. There were no regional differences in tumor screening, health record establishment, follow-up practices, or tumor health education among urban, suburban, and rural populations.

Objective:To develop an artificial intelligence (AI)-based platelet review strategy to identify abnormal platelet histograms with no significant difference between initial impedance platelet count (PLT-I) and PLT-F results.Methods:This study included 5 119 routine blood analysis in Nanfang Hospital of Southern Medical University and its Ganzhou branch from July 2023 and March 2024. Specimens exhibiting abnormal platelet histograms and an initial platelet count >40×10?/L underwent review using the fluorescent platelet count (PLT-F) channel. Consistency of the results was defined as a difference between impedance platelet count (PLT-I) and PLT-F less than ±20% of the PLT-F results. A deep learning model was developed using platelet and red blood cell histogram data from a training set of 3 807 specimens. The model′s diagnostic performance was evaluated on an independent external validation set ( n=805) using receiver operating characteristic (ROC) curve analysis. Changes in the number of reviewed samples and sample turnaround time were analyzed to assess its clinical utility. Results:The deep learning model based on platelet and red blood cell histograms achieved an area under the ROC curve (AUC) of 0.854 in the training set. At a cutoff value of 0.1, the sensitivity was 0.954 and specificity was 0.358. The model could reduce review by 16.80% (190/1 131). In the validation set, the AUC was 0.805, with a sensitivity of 0.955 and specificity of 0.307, corresponding to a reduction of 17.41% (47/270) in reviewed specimens.Conclusion:The platelet review prediction model developed based on deep learning technology can efficiently identify samples with consistent results before and after review, reducing unnecessary reviews and shortening specimen testing time, thereby improving the efficiency of platelet test.

Objective To investigate the expression of LncRNA RMST in gastric cancer and its value in diagnosis and prognosis.Methods Tumor and adjacent normal tissues were collected and analyzed from 92 gastric cancer patients.The expression of LncRNA RMST in these tissues was measured using RT-qPCR.ROC curve analysis was performed to evaluate the diagnostic value of LncRNA RMST for gastric cancer.Survival curves were plotted to assess the prognostic significance of LncRNA RMST in gastric cancer.Results LncRNA RMST expression was significantly lower in gastric cancer tissues than in normal tissues.Further analysis revealed that LncRNA RMST expression levels decreased progressively with advancing cancer stages and were significantly correlated with tumor size,TNM staging,and lymph node metastasis(P<0.05),with no significant correlation with patient age or gender.Additionally,ROC curve analysis indicated that LncRNA RMST has substantial diagnostic value in gastric cancer,with AUC of 0.76(95%CI:0.69～0.83,P<0.01),sensitivity of 70.31%,and specificity of 71.56%.Survival analysis showed that patients with high LncRNA RMST expression had significantly higher overall survival rates than those with low expression.Conclusion LncRNA RMST plays a critical role in the occurrence,progres-sion,and prognosis of gastric cancer.It may serve as a potential biomarker for the diagnosis and prognosis of gastric cancer,offering new insights for clinical screening and therapeutic strategies.

Objective To explore the impact of the TINCR-MAF:MAFB transcription factor network on the expression of proliferation and differentiation-related genes in keratinocytes,to verify the role of this network in the occurrence and development of psoriasis and its potential mechanisms.Methods Employed RNA interference technology to knock down TINCR gene expression,and the proliferation ability of keratinocytes was assessed using the CCK-8 method.Additionally,qRT-PCR and Western blot analyses were conducted to evaluate the RNA and protein expression levels of TINCR,MAFB,and KLF4 genes.Immunohistochemical methods were used to detect the expression of KLF4 protein in psoriasis tissues.Results After TINCR gene siRNA interference,the proliferation ability of keratinocytes significantly decreased at 24,48,and 72 hours(P<0.001),indicating that the TINCR gene plays a critical role in cell proliferation.The results of qRT-PCR and Western blot analyses showed that the RNA and protein expression levels of TINCR,MAFB,and KLF4 genes were significantly reduced(P<0.001),suggesting that TINCR may influence the differentiation of keratinocytes by regulating the expression of MAFB transcription factor and KLF4 differentiation-related genes.Furthermore,immunohistochemical results indicated that the expression of KLF4 protein was significantly elevated in psoriasis tissues compared to normal skin tissues,suggesting that KLF4 plays an important role in the pathogenesis of psoriasis.Conclusions The TINCR-MAF:MAFB transcription factor network may participate in the occurrence and development of psoriasis by affecting the proliferation and differentiation of keratinocytes.This finding provides a new perspective on the pathogenesis of psoriasis and potential targets for future therapeutic strategies.

OBJECTIVE: To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province. METHODS: A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67). RESULTS: Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. CONCLUSION The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans ; Amino Acid Metabolism, Inborn Errors/epidemiology* ; Glutaryl-CoA Dehydrogenase/chemistry* ; Infant, Newborn ; Female ; Neonatal Screening/methods* ; Male ; Brain Diseases, Metabolic/epidemiology* ; China/epidemiology* ; Retrospective Studies ; Mutation ; Genetic Variation ; Glutarates

Objective:To understand the current status of health management cognition and healthcare behaviors of community residents in Shanghai, and to analyze their related influencing factors, in order to promote the optimization of proactive health-oriented health management strategies.Methods:This study was a cross-sectional survey. From February to May 2023, 1-4 community health service centers were randomly selected from each administrative district in Shanghai by stratified random sampling using the random number table method. Ultimately, 28 community health service centers were selected as research sites. The research team then used convenience sampling method to select at least 50 patients as research subjects from those visiting each selected center. A total of 1 436 community residents were included in this study in the form of on-site completion of questionnaire stars, and the study covered the residents′ level of health management cognition, chronic disease management, intention to seek medical care, physical examination behavior, and handling of abnormal values. Multiple regression analysis was used to assess the correlation between health management cognition and medical consultation behavior and their influencing factors.Results:The results of the health management awareness survey showed that 827 residents (57.6%) had a relatively high level of awareness. Among the 755 residents (52.6%) with chronic diseases, the proportion of self-assessed stable control was significantly higher in the high-cognition group (318 (76.0%)) than that in the low-cognition group (223 (66.2%)), and the difference was statistically significant ( χ2=9.01, P=0.003). Multiple regression analysis showed that females ( OR=1.293, 95% CI: 1.028-1.627),≤44 years old and 45-59 years old ( OR=2.328, 95% CI: 1.648-2.328; OR=1.351, 95% CI: 1.035-1.763), bachelor′s degree or above ( OR=1.784, 95% CI: 1.256-2.534), living in suburban area ( OR=1.577, 95% CI: 1.235-2.014), use of employee health insurance and resident health insurance ( OR=2.294, 95% CI: 1.629-3.232; OR=1.628, 95% CI: 1.149-2.306), suffering from a chronic disease ( OR=3.110, 95% CI: 1.918-5.042), and having a contracted family doctor ( OR=1.870, 95% CI: 1.431-2.442) were all positive correlation with health management perception(all P<0.05). In terms of health care behavior, 908 (63.2%) residents showed a high active intention to seek medical care, and 906 (63.1%) and 796 (55.4%) residents showed active participation in medical check-ups and timely handling of medical check-up abnormal values, respectively. Residents in the high awareness group were significantly better than those in the low awareness group in terms of intention to seek medical care ( χ2=33.26), mode of medical checkups ( χ2=110.71), frequency of medical checkups ( χ2=45.37), and the way of dealing with abnormal values after medical checkups ( χ2=93.14), with the difference being statistically significant(all P<0.05). The results of linear regression analysis of the factors influencing the medical behavior of community residents showed that age≤44 and 45-59 ( B=0.479, 0.167), high school and specialist versus bachelor′s degree and above ( B=0.465, 0.739), use of employee medical insurance and residents′ health insurance ( B=0.604, 0.420), the number of current chronic diseases 1 ( B=0.919) and contracted family doctor ( B=0.134) of community residents′ health care behaviors are better (all P<0.05). Conclusions:The level of community residents′ health management cognition needs to be improved, and high health management cognition can significantly promote proactive healthcare-seeking behavior. However, residents′ medical behavior is still influenced by multidimensional factors. Signing a contract with a family doctor is significantly associated with high cognition and quality healthcare behaviors.

Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.

Objective:To investigate the current status of the implementation of active health management in tumor care in community health service institutions in Shanghai.Methods:This cross-sectional study was conducted in July 2022. A questionnaire was designed based on tumor management practices according to active health principles was designed and distributed to all 247 community health service institutions in 16 administrative districts of Shanghai. Data were collected on tumor screening, establishment of health records for tumor patients, and follow-up practices.Results:Of the 247 questionnaires distributed, 239 were returned, with 228 valid responses (effective response rate: 92.3%). Of the 228 institutions, 72 (31.6%) were located in urban areas, 101 (44.3%) in suburban areas, and 55 (24.1%) in rural areas. Tumor screening was performed by 89.0% (203/228) of the institutions, mainly for colorectal, lung, liver, breast, and gastric cancers. Health records for tumor patients were established by 92.5% (211/228) of institutions. Follow-up of tumor patients was conducted by 99.1% (226/228) of institutions, with 29.6% (67/226) performing 1-2 annual follow-ups. Telephone follow-up was used by 99.1% (224/226) of institutions, while 42.5% (96/226) adjusted the frequency of follow-up based on patients′ Karnofsky Performance Status scores. Targeted health education for patients and families was provided by 84.6% (193/228) of institutions, including exercise guidance (78.8%, 152/193) and psychological support (76.2%, 147/193). No statistically significant differences were observed among urban, suburban, and rural institutions in tumor screening, health record establishment, follow-up frequency, assessment content, follow-up methods, and tumor health education and content (all P>0.05). Conclusions:The coverage of tumor screening in Shanghai′s community health service institutions remains incomplete, the quality of follow-up needs to be improved, and health education programs are not comprehensive. There were no regional differences in tumor screening, health record establishment, follow-up practices, or tumor health education among urban, suburban, and rural populations.