OBJECTIVE: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia. METHODS: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People's Hospital of Yangjiang (Ethics No: 20240001). RESULTS: For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A2, whilst another had significantly decreased Hb A and Hb A2, in addition with the appearance of a Hb H band. The content of Hb Bart's in four neonates was ≥ 0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c.2delT, HBA2: c.1A>G, HBA2: c.1A>T, and HBA1: c.2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c.427T>C (Hb CS) and HBA2: c.2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c.1A>G and Southeast Asian type deletion. CONCLUSION Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c.1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
Humans ; Phenotype ; Codon, Initiator/genetics* ; Female ; Male ; Retrospective Studies ; alpha-Globins/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobin A/genetics* ; Adult ; Mutation

OBJECTIVE To investigate the distribution and drug resistance of pathogens isolated from the elderly population with infections in Baotou,Inner Mongolia.METHODS The clinical data were collected from 9268 elder-ly patients with infections(with no less than 60 years of age)who were treated in Baotou Medical College of Cen-ter Clinical Medical School and the Second Affiliated Hospital of Baotou Medical College from 2017 to 2021 and were retrospectively analyzed.The 9268 samples were cultured for isolation of pathogens,the isolated pathogens were identified,and the drug susceptibility testing was performed.RESULTS Totally 9268 strains of pathogens were isolated,53.11％of which were gram-negative bacteria,28.94％were gram-positive bacteria,and 17.95％were fungi.Escherichia coli and Klebsiella pneumoniae were the major species of gram-negative bacteria;Entero-cocci and coagulase-negative Staphylococcus were dominant among the gram-positive bacteria;Candida albicans was the predominant species of fungi.There were certain differences in the pathogens isolated from the elderly pa-tients with infection between different sexes,among the different seasons and age groups.With respect to drug re-sistance,the gram-positive bacteria maintained highly sensitive to vancomycin and teicoplanin,while the drug re-sistance rates to ampicillin and penicillin were relatively high.The drug resistance rates of the gram-negative bacte-ria to carbapenems were relatively low,but the drug resistance rates to ampicillin and cefazolin were high.CONCLUSIONS The gram-negative bacteria are dominant among the pathogens isolated from the elderly population with infections in Baotou City,Inner Mongolia;the distribution of pathogens is affected by the sex,age and sea-son.There is serious problem with the drug resistance of pathogens,the strains are highly resistant to the com-monly used antibiotics such as ampicillin and penicillin.It is necessary for the hospital to reasonably use antibiotics according to the epidemiological characteristics and drug resistance trends of the pathogens and optimize the strate-gies for clinical diagnosis and treatment of infectious diseases.

Objective: To explore the association between mammalian sterile 20-like kinase 2(MST2) gene polymorphism and haplotype and the risk of colorectal cancer, rectal cancer, and colon cancer in the Han population in Baotou area by case-control association study. Methods: A total of 390 patients with colorectal cancer diagnosed by pathology and 413 normal physical examination pop-ulation were collected, and 2 mL of peripheral blood was taken for subsequent gene genotyping. Single nucleotide polymorphisms(SNPs) of MST2 gene were screened according to the genetic polymorphism data of Chinese Han population provided by the NCBI-Hapmap database. Gene genotyping was performed by Taqman method. Logistic regression was used to calculate the association between each SNP and the risk of colorectal cancer, colon cancer, and rectal cancer under codominant, dominant, overdominant, and recessive genetic models. Results: Five SNPs of MST2 gene were screened, namely rs11783149, rs10955176, rs7827435, rs4075986, rs3019295. Among them, SNP rs4075986 was associated with the risk of colorectal cancer. Compared with the rs4075986 GG+AA genotype, carrying the AG genotype [OR(95%CI)=2.473(1.844-3.316) could increase the risk of colorectal cancer. Compared with the rs4075986 GG genotype, carrying the AG+AA genotype [OR(95%CI)=2.475(1.844-3.323) could increase the risk of colorectal cancer. SNP rs4075986 and rs3019295 were associated with the risk of rectal cancer. Compared with the rs4075986 GG+AA genotype, carrying the AG genotype [OR(95%CI)=3.411(2.387-4.874)] could increase the risk of rectal cancer. Compared with the rs3019295 GG+AA genotype, carrying the AG genotype [OR(95%CI)=0.706(0.501-0.996)] could reduce the risk of rectal cancer. SNP rs11783149 and rs4075986 were associated with the risk of colon cancer. Compared with the rs11783149 CC genotype, carrying the TT [OR(95%CI)=10.883(1.186-99.862)] and CT [OR(95%CI)=1.665(1.036-2.675)] genotype could increase the risk of colon cancer, respectively. Compared with the rs4075986 GG genotype, the AG+AA genotype [OR(95%CI)=1.824(1.262-2.638)] could increase the risk of colon cancer. Conclusion MST2 gene SNP rs3019295 AG genotype may be protective factor for rectal cancer. SNP rs11783149 CT and TT genotypes maybe risk factors for colon cancer. SNP rs4075986 AG and AG+AA genotypes may be a common risk factors for colorectal cancer, rectal cancer and colon cancer.

Objective:To analyze the echocardiographic features of different subtypes of Takayasu arteritis（TA）complicated with heart failure（HF），and to explore the clinical application value of echocardiography in the assessment of TA-HF.Methods:Comprehensive clinical and echocardiographic data were collected from 328 consecutive patients with TA who were admitted to the First Affiliated Hospital of China Medical University between January 2010 and December 2023. HF was diagnosed and classified according to the criteria outlined in the China guidelines for the diagnosis and treatment of heart failure 2024. A total of 38 TA-HF patients was selected and enrolled. Based on left ventricular ejection fraction（LVEF），they were grouped into preserved LVEF（HFpEF）group（LVEF≥50%， n=22）and the reduced LVEF（HFmr/rEF）group（LVEF<50%， n=16）. Clinical and echocardiographic data were compared between the HFpEF group and the HFmr/rEF group. Multivariate analysis was performed to evaluate the risk factors for the occurrence of heart failure. Results:① The incidence of HF was 11.6% in patients with TA（38/328）. In the patients with TA-HF，Numano Type Ⅴ accounted for 52.6%（20/38）. According to HF classification standard，TA-HF most commonly manifested as HFpEF at 57.9%（22/38），HFmrEF and HFrEF each accounted for 21.05%（8/38）respectively. ②Echocardiographic analysis revealed the following findings in TA-HF patients：34（89.5%）patients exhibited left heart dilation，4（10.5%）patients demonstrated right heart dilation，23（60.5%）patients presented with left ventricular myocardial hypertrophy，18（47.4%）patients had moderate/severe aortic valve regurgitation，9（23.7%）patients showed diffuse left ventricular myocardial wall motion abnormalities，8（21.1%）patients displayed segmental left ventricular myocardial wall motion abnormalities，and 11（28.9%）patients were diagnosed with pulmonary hypertension. ③Intergroup comparisons demonstrated significantly lower levels of erythrocyte sedimentation rate，reduced proportions of patients in clinical active phase，and lower incidence of moderate/severe aortic regurgitation in HFmr/rEF group versus HFpEF group（all P<0.05）. Conversely，HFmr/rEF group exhibited significantly higher rates of myocardial motion abnormalities，left atrial anteroposterior diameter，left ventricular end-systolic anteroposterior diameter，and left ventricular end-systolic volume compared to HFpEF group（all P<0.05）. ④Multivariate regression analysis identified left ventricular wall motion abnormality，pulmonary hypertension，moderate/severe aortic regurgitation and left ventricular myocardial hypertrophy as independent risk factors for TA-HF development. Conclusions:TA-HF exhibits diverse echocardiographic manifestations，with distinct echocardiographic features observed among different subtypes. Echocardiography plays a crucial role in the diagnosis，classification，and risk stratification of TA-HF.

Objective:To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.Methods:A retrospective study was conducted on 7 patients diagnosed by Yangjiang People′s Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People′s Hospital of Yangjiang (Ethics No: 20240001).Results:For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A 2, whilst another had significantly decreased Hb A and Hb A 2, in addition with the appearance of a Hb H band. The content of Hb Bart′s in four neonates was ≥0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c. 2delT, HBA2: c. 1A>G, HBA2: c. 1A>T, and HBA1: c. 2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c. 427T>C (Hb CS) and HBA2: c. 2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c. 1A>G and Southeast Asian type deletion. Conclusion:Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c. 1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.

OBJECTIVE To investigate the distribution and drug resistance of pathogens isolated from the elderly population with infections in Baotou,Inner Mongolia.METHODS The clinical data were collected from 9268 elder-ly patients with infections(with no less than 60 years of age)who were treated in Baotou Medical College of Cen-ter Clinical Medical School and the Second Affiliated Hospital of Baotou Medical College from 2017 to 2021 and were retrospectively analyzed.The 9268 samples were cultured for isolation of pathogens,the isolated pathogens were identified,and the drug susceptibility testing was performed.RESULTS Totally 9268 strains of pathogens were isolated,53.11％of which were gram-negative bacteria,28.94％were gram-positive bacteria,and 17.95％were fungi.Escherichia coli and Klebsiella pneumoniae were the major species of gram-negative bacteria;Entero-cocci and coagulase-negative Staphylococcus were dominant among the gram-positive bacteria;Candida albicans was the predominant species of fungi.There were certain differences in the pathogens isolated from the elderly pa-tients with infection between different sexes,among the different seasons and age groups.With respect to drug re-sistance,the gram-positive bacteria maintained highly sensitive to vancomycin and teicoplanin,while the drug re-sistance rates to ampicillin and penicillin were relatively high.The drug resistance rates of the gram-negative bacte-ria to carbapenems were relatively low,but the drug resistance rates to ampicillin and cefazolin were high.CONCLUSIONS The gram-negative bacteria are dominant among the pathogens isolated from the elderly population with infections in Baotou City,Inner Mongolia;the distribution of pathogens is affected by the sex,age and sea-son.There is serious problem with the drug resistance of pathogens,the strains are highly resistant to the com-monly used antibiotics such as ampicillin and penicillin.It is necessary for the hospital to reasonably use antibiotics according to the epidemiological characteristics and drug resistance trends of the pathogens and optimize the strate-gies for clinical diagnosis and treatment of infectious diseases.

Objective:To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.Methods:A retrospective study was conducted on 7 patients diagnosed by Yangjiang People′s Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People′s Hospital of Yangjiang (Ethics No: 20240001).Results:For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A 2, whilst another had significantly decreased Hb A and Hb A 2, in addition with the appearance of a Hb H band. The content of Hb Bart′s in four neonates was ≥0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c. 2delT, HBA2: c. 1A>G, HBA2: c. 1A>T, and HBA1: c. 2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c. 427T>C (Hb CS) and HBA2: c. 2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c. 1A>G and Southeast Asian type deletion. Conclusion:Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c. 1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.

Objective:To analyze the echocardiographic features of different subtypes of Takayasu arteritis（TA）complicated with heart failure（HF），and to explore the clinical application value of echocardiography in the assessment of TA-HF.Methods:Comprehensive clinical and echocardiographic data were collected from 328 consecutive patients with TA who were admitted to the First Affiliated Hospital of China Medical University between January 2010 and December 2023. HF was diagnosed and classified according to the criteria outlined in the China guidelines for the diagnosis and treatment of heart failure 2024. A total of 38 TA-HF patients was selected and enrolled. Based on left ventricular ejection fraction（LVEF），they were grouped into preserved LVEF（HFpEF）group（LVEF≥50%， n=22）and the reduced LVEF（HFmr/rEF）group（LVEF<50%， n=16）. Clinical and echocardiographic data were compared between the HFpEF group and the HFmr/rEF group. Multivariate analysis was performed to evaluate the risk factors for the occurrence of heart failure. Results:① The incidence of HF was 11.6% in patients with TA（38/328）. In the patients with TA-HF，Numano Type Ⅴ accounted for 52.6%（20/38）. According to HF classification standard，TA-HF most commonly manifested as HFpEF at 57.9%（22/38），HFmrEF and HFrEF each accounted for 21.05%（8/38）respectively. ②Echocardiographic analysis revealed the following findings in TA-HF patients：34（89.5%）patients exhibited left heart dilation，4（10.5%）patients demonstrated right heart dilation，23（60.5%）patients presented with left ventricular myocardial hypertrophy，18（47.4%）patients had moderate/severe aortic valve regurgitation，9（23.7%）patients showed diffuse left ventricular myocardial wall motion abnormalities，8（21.1%）patients displayed segmental left ventricular myocardial wall motion abnormalities，and 11（28.9%）patients were diagnosed with pulmonary hypertension. ③Intergroup comparisons demonstrated significantly lower levels of erythrocyte sedimentation rate，reduced proportions of patients in clinical active phase，and lower incidence of moderate/severe aortic regurgitation in HFmr/rEF group versus HFpEF group（all P<0.05）. Conversely，HFmr/rEF group exhibited significantly higher rates of myocardial motion abnormalities，left atrial anteroposterior diameter，left ventricular end-systolic anteroposterior diameter，and left ventricular end-systolic volume compared to HFpEF group（all P<0.05）. ④Multivariate regression analysis identified left ventricular wall motion abnormality，pulmonary hypertension，moderate/severe aortic regurgitation and left ventricular myocardial hypertrophy as independent risk factors for TA-HF development. Conclusions:TA-HF exhibits diverse echocardiographic manifestations，with distinct echocardiographic features observed among different subtypes. Echocardiography plays a crucial role in the diagnosis，classification，and risk stratification of TA-HF.

Objective Explore the factors affecting rural residents'willingness to use telemedicine in China,and put forward relevant suggestions to promote the development of telemedicine in rural areas.Methods A research model was built based on Technology Acceptance Model,data were collected through using a questionnaire survey and analyze by structural equation modelling for validation.Results The awareness rate of telemedicine among rural residents was 62.0%and the usage rate was 10.0%,which was low.Perceived usefulness,perceived ease of use,social participation,social support,and facilitators positively influence rural residents'willingness to use telemedicine(P＜0.05),while perceived risk and social connection have no effect on the willingness of rural residents to use telemedicine(P＞0.05).Conclusion Promote the construction of telemedicine system infrastructure to comprehensively enhance the level of rural medical and health services;improve telemedicine laws and regulations to promote the policy guarantee of the three medical institutions;give full play to the role of social capital to improve the information literacy of rural residents in the use of telemedicine.

As a practical carrier for promoting the tiered diagnosis and treatment model, the medical consor-tium is of great significance for balancing medical resources and boosting medical service efficiency. The construction of medical consortiums not only improves the accessibility of high-quality medical resources for patients, but also enhances the diagnostic and treatment level of member units. Meanwhile, it provides space for the leading hospital to adjust the structure of diseases and improve the level of discipline construction. As the core of medical insurance payment reform, DRG, through indicators such as the case mix index(CMI) and the number of diagnosis related group (DRG), provides objective and quantified data support for case management and disease structure optimization, thus effectively guiding the rational allocation of medical resources and the adjustmentof diseases and surgical types within the medical consortium. Comprehensive use of DRG evaluation indicators can construct a multidimensional medical consortium construction evaluation system, provides a clear direction for medical consortium cooperation, thereby promoting the overall healthy and sustainable development of medical consortiums and achieving a win-win situation for all parties involved. This paper, based on the "1+5+1" medical consortium cooperation model centered around Peking Union Medical College Hospital, utilizes DRG indicators to analyze the benefits for patients, member hospitals, and the leading hospital during the medical consortium construction process, with the hope of providing reference for the construction of a medical consortium evaluation system.