This article reports the clinical features and gene mutation types of a large family with Nascimento form of syndromic X-linked intellectual developmental disorder (MRXSN), involving 9 individuals across 3 generations, and a literature review was conducted. In this family, 9 individuals had similar manifestations including mental retardation and unusual facies, and 4 of them had passed away. Genetic testing showed that the proband had the deletion of exons 2-3 of the UBE2A gene, which was inherited from the mother. Fluorescent quantitative polymerase chain reaction showed that the proband and his uncle had the deletion of exons 2-3 of the UBE2A gene; the proband's mother, grandmother, and great-aunt had a heterozygous deletion of exons 2-3 of the UBE2A gene; the proband's father, sister, and aunt had a normal copy number of exons 2-3 of the UBE2A gene. The 34 patients reported in the literature had diverse clinical phenotypes, and UBE2A gene mutations (22/34, 65%) and large fragment deletions (12/34, 35%) were the main mutation types. Moderate to severe mental retardation (34/34, 100%), speech and language impairment (33/34, 97%), and unusual facies (32/34, 94%) were the main clinical manifestations of MRXSN patients. The disease has obvious phenotypic heterogeneity, and early diagnosis facilitates optimal prenatal and postnatal management to improve reproductive outcomes.
Humans ; Male ; Ubiquitin-Conjugating Enzymes/genetics* ; Female ; X-Linked Intellectual Disability/genetics* ; Gene Deletion ; Child ; Pedigree ; Child, Preschool ; Adult

Objective:To analyze the total expendition,developmental changes and flow of the total cost of traditional Chinese medicine(TCM)in China from 2016 to 2021,and to study the development of the total cost of TCM in different medical institutions.Methods:Institutional flow method and case-base aggregation method were used to account for the total TCM costs.Results:From 2016 to 2021,the total amount of total TCM costs flowed to TCM-type hospitals was the highest in China,the proportion of total TCM costs in primary healthcare organizations was increased,and TCM-type clinics and outpatient clinics were developed more rapidly.The share of Chinese medicine drug costs in total Chinese medicine costs has been declined,and the share of county hospitals in their total health costs has been risen overall Conclusion:In the future,it would increase the TCM investment,attach importance to the development of TCM services in non-Chinese medicine hospitals,improve the capacity of primary Chinese medicine services,continue to consolidate the policy of"strengthening the primary",and maintain the rapid development of Chinese medicine clinics and outpatient clinics;the value of Chinese medicine technical labor should be emphasized,and the driving force of county hospitals should be brought into full play.

Objective:To analyze the total expendition,developmental changes and flow of the total cost of traditional Chinese medicine(TCM)in China from 2016 to 2021,and to study the development of the total cost of TCM in different medical institutions.Methods:Institutional flow method and case-base aggregation method were used to account for the total TCM costs.Results:From 2016 to 2021,the total amount of total TCM costs flowed to TCM-type hospitals was the highest in China,the proportion of total TCM costs in primary healthcare organizations was increased,and TCM-type clinics and outpatient clinics were developed more rapidly.The share of Chinese medicine drug costs in total Chinese medicine costs has been declined,and the share of county hospitals in their total health costs has been risen overall Conclusion:In the future,it would increase the TCM investment,attach importance to the development of TCM services in non-Chinese medicine hospitals,improve the capacity of primary Chinese medicine services,continue to consolidate the policy of"strengthening the primary",and maintain the rapid development of Chinese medicine clinics and outpatient clinics;the value of Chinese medicine technical labor should be emphasized,and the driving force of county hospitals should be brought into full play.

Objective:To analyze the total expendition,developmental changes and flow of the total cost of traditional Chinese medicine(TCM)in China from 2016 to 2021,and to study the development of the total cost of TCM in different medical institutions.Methods:Institutional flow method and case-base aggregation method were used to account for the total TCM costs.Results:From 2016 to 2021,the total amount of total TCM costs flowed to TCM-type hospitals was the highest in China,the proportion of total TCM costs in primary healthcare organizations was increased,and TCM-type clinics and outpatient clinics were developed more rapidly.The share of Chinese medicine drug costs in total Chinese medicine costs has been declined,and the share of county hospitals in their total health costs has been risen overall Conclusion:In the future,it would increase the TCM investment,attach importance to the development of TCM services in non-Chinese medicine hospitals,improve the capacity of primary Chinese medicine services,continue to consolidate the policy of"strengthening the primary",and maintain the rapid development of Chinese medicine clinics and outpatient clinics;the value of Chinese medicine technical labor should be emphasized,and the driving force of county hospitals should be brought into full play.

Objective:To analyze the total expendition,developmental changes and flow of the total cost of traditional Chinese medicine(TCM)in China from 2016 to 2021,and to study the development of the total cost of TCM in different medical institutions.Methods:Institutional flow method and case-base aggregation method were used to account for the total TCM costs.Results:From 2016 to 2021,the total amount of total TCM costs flowed to TCM-type hospitals was the highest in China,the proportion of total TCM costs in primary healthcare organizations was increased,and TCM-type clinics and outpatient clinics were developed more rapidly.The share of Chinese medicine drug costs in total Chinese medicine costs has been declined,and the share of county hospitals in their total health costs has been risen overall Conclusion:In the future,it would increase the TCM investment,attach importance to the development of TCM services in non-Chinese medicine hospitals,improve the capacity of primary Chinese medicine services,continue to consolidate the policy of"strengthening the primary",and maintain the rapid development of Chinese medicine clinics and outpatient clinics;the value of Chinese medicine technical labor should be emphasized,and the driving force of county hospitals should be brought into full play.

Objective:To analyze the total expendition,developmental changes and flow of the total cost of traditional Chinese medicine(TCM)in China from 2016 to 2021,and to study the development of the total cost of TCM in different medical institutions.Methods:Institutional flow method and case-base aggregation method were used to account for the total TCM costs.Results:From 2016 to 2021,the total amount of total TCM costs flowed to TCM-type hospitals was the highest in China,the proportion of total TCM costs in primary healthcare organizations was increased,and TCM-type clinics and outpatient clinics were developed more rapidly.The share of Chinese medicine drug costs in total Chinese medicine costs has been declined,and the share of county hospitals in their total health costs has been risen overall Conclusion:In the future,it would increase the TCM investment,attach importance to the development of TCM services in non-Chinese medicine hospitals,improve the capacity of primary Chinese medicine services,continue to consolidate the policy of"strengthening the primary",and maintain the rapid development of Chinese medicine clinics and outpatient clinics;the value of Chinese medicine technical labor should be emphasized,and the driving force of county hospitals should be brought into full play.

Objective:To analyze the total expendition,developmental changes and flow of the total cost of traditional Chinese medicine(TCM)in China from 2016 to 2021,and to study the development of the total cost of TCM in different medical institutions.Methods:Institutional flow method and case-base aggregation method were used to account for the total TCM costs.Results:From 2016 to 2021,the total amount of total TCM costs flowed to TCM-type hospitals was the highest in China,the proportion of total TCM costs in primary healthcare organizations was increased,and TCM-type clinics and outpatient clinics were developed more rapidly.The share of Chinese medicine drug costs in total Chinese medicine costs has been declined,and the share of county hospitals in their total health costs has been risen overall Conclusion:In the future,it would increase the TCM investment,attach importance to the development of TCM services in non-Chinese medicine hospitals,improve the capacity of primary Chinese medicine services,continue to consolidate the policy of"strengthening the primary",and maintain the rapid development of Chinese medicine clinics and outpatient clinics;the value of Chinese medicine technical labor should be emphasized,and the driving force of county hospitals should be brought into full play.

Objective:To analyze the total expendition,developmental changes and flow of the total cost of traditional Chinese medicine(TCM)in China from 2016 to 2021,and to study the development of the total cost of TCM in different medical institutions.Methods:Institutional flow method and case-base aggregation method were used to account for the total TCM costs.Results:From 2016 to 2021,the total amount of total TCM costs flowed to TCM-type hospitals was the highest in China,the proportion of total TCM costs in primary healthcare organizations was increased,and TCM-type clinics and outpatient clinics were developed more rapidly.The share of Chinese medicine drug costs in total Chinese medicine costs has been declined,and the share of county hospitals in their total health costs has been risen overall Conclusion:In the future,it would increase the TCM investment,attach importance to the development of TCM services in non-Chinese medicine hospitals,improve the capacity of primary Chinese medicine services,continue to consolidate the policy of"strengthening the primary",and maintain the rapid development of Chinese medicine clinics and outpatient clinics;the value of Chinese medicine technical labor should be emphasized,and the driving force of county hospitals should be brought into full play.

Objective:To report the results of national surveillance on the distribution and antimicrobial resistance profile of clinical Gram-negative bacteria isolates from bloodstream infections in China in 2022.Methods:The clinical isolates of Gram-negative bacteria from blood cultures in member hospitals of national bloodstream infection Bacterial Resistant Investigation Collaborative System（BRICS）were collected during January 2022 to December 2022. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical and Laboratory Standards Institute（CLSI）. WHONET 5.6 and SPSS 25.0 software were used to analyze the data.Results:During the study period，9 035 strains of Gram-negative bacteria were collected from 51 hospitals，of which 7 895（87.4%）were Enterobacteriaceae and 1 140（12.6%）were non-fermenting bacteria. The top 5 bacterial species were Escherichia coli（ n=4 510，49.9%）， Klebsiella pneumoniae（ n=2 340，25.9%）， Pseudomonas aeruginosa（ n=534，5.9%）， Acinetobacter baumannii complex（ n=405，4.5%）and Enterobacter cloacae（ n=327，3.6%）. The ESBLs-producing rates in Escherichia coli， Klebsiella pneumoniae and Proteus spp. were 47.1%（2 095/4 452），21.0%（427/2 033）and 41.1%（58/141），respectively. The prevalence of carbapenem-resistant Escherichia coli（CREC）and carbapenem-resistant Klebsiella pneumoniae（CRKP）were 1.3%（58/4 510）and 13.1%（307/2 340）；62.1%（36/58）and 9.8%（30/307）of CREC and CRKP were resistant to ceftazidime/avibactam combination，respectively. The prevalence of carbapenem-resistant Acinetobacter baumannii（CRAB）complex was 59.5%（241/405），while less than 5% of Acinetobacter baumannii complex was resistant to tigecycline and polymyxin B. The prevalence of carbapenem-resistant Pseudomonas aeruginosa（CRPA）was 18.4%（98/534）. There were differences in the composition ratio of Gram-negative bacteria in bloodstream infections and the prevalence of main Gram-negative bacteria resistance among different regions，with statistically significant differences in the prevalence of CRKP and CRPA（ χ2=20.489 and 20.252， P<0.001）. The prevalence of CREC，CRKP，CRPA，CRAB，ESBLs-producing Escherichia coli and Klebsiella pneumoniae were higher in provinicial hospitals than those in municipal hospitals（ χ2=11.953，81.183，10.404，5.915，12.415 and 6.459， P<0.01 or <0.05），while the prevalence of CRPA was higher in economically developed regions（per capita GDP ≥ 92 059 Yuan）than that in economically less-developed regions（per capita GDP <92 059 Yuan）（ χ2=6.240， P=0.012）. Conclusions:The proportion of Gram-negative bacteria in bloodstream infections shows an increasing trend，and Escherichia coli is ranked in the top，while the trend of CRKP decreases continuously with time. Decreasing trends are noted in ESBLs-producing Escherichia coli and Klebsiella pneumoniae. Low prevalence of carbapenem resistance in Escherichia coli and high prevalence in CRAB complex have been observed. The composition ratio and antibacterial spectrum of bloodstream infections in different regions of China are slightly different，and the proportion of main drug resistant bacteria in provincial hospitals is higher than those in municipal hospitals.