OBJECTIVE: To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies. METHODS: A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children's Medical Center (Group) in 2024 were selected as the study subject. Upon the woman's two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51). RESULTS: Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication. CONCLUSION The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.
Humans ; Female ; DNA Copy Number Variations/genetics* ; Preimplantation Diagnosis/methods* ; Pregnancy ; Pedigree ; Genetic Testing/methods* ; Male ; Adult ; Aneuploidy ; Chromosomes, Human, Pair 17/genetics* ; China ; East Asian People

Objective:To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies.Methods:A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children′s Medical Center (Group) in 2024 were selected as the study subject. Upon the woman′s two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51).Results:Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication.Conclusion:The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.

This study was aimed at exploring the prevalence and drug sensitivity of Gordonia strains isolated from sputum samples in Henan Province,to provide data to aid in the prevention and treatment of Gordonia infection.A combination of 16S rDNA and sec A1 gene sequencing was used to identify the isolated strains,and susceptibility to16 drugs was determined with the broth microdilution method.A total of 21 strains were identified through 16S rDNA gene and sec A1 gene sequencing,including five strains of Gordonia broncians,eight strains of Gordonia paraphernivans,seven strains of Gordonia sputi,and one strain of Gordonia aichiensis.Drug sensi-tivity testing showed high Gordonia sensitivity to drugs such as ceftriaxone,linezolid,doxycycline,amoxicillin/clavulanic acid,mino-cycline,cefotaxime,trimethoprim/sulfamethoxazole,imipenem,tobramycin,and clarithromycin.The sensitivity rates of the isolated strains were 90.48%(19/21),100%(21/21),90.48%(19/21),90.48%(19/21),95.24%(20/21),90.48%(19/21),90.48%(19/21),90.48%(19/21),and 95.24%(20/21),respectively.Gordonia showed high resistance to rifampicin and cefepime,with rates of 28.57%(6/21)and 19.05%(4/21),respectively.Meanwhile,the resistance varied among bacterial strains.The resistance rate of G.sputi to rifampicin reached 71.43%(5/7),whereas that of G.parapffinivoras to cefepime was 37.5%(3/8).The main species of Gordo-nia isolated from sputum samples of patients in Henan Province were G.bronchialis,G.paraffinivoras,G.sputi,and G.aichiensis.Drug sensitivity tests indicated that drugs including amoxicillin/clavulanic acid,ceftriaxone,cefotaxime,tobramycin,clarithromycin,mi-nocycline,trimethoprim/sulfamethoxazole,linezolid,and doxycycline had good antibacterial effects against Gordonia.

This study was aimed at exploring the prevalence and drug sensitivity of Gordonia strains isolated from sputum samples in Henan Province,to provide data to aid in the prevention and treatment of Gordonia infection.A combination of 16S rDNA and sec A1 gene sequencing was used to identify the isolated strains,and susceptibility to16 drugs was determined with the broth microdilution method.A total of 21 strains were identified through 16S rDNA gene and sec A1 gene sequencing,including five strains of Gordonia broncians,eight strains of Gordonia paraphernivans,seven strains of Gordonia sputi,and one strain of Gordonia aichiensis.Drug sensi-tivity testing showed high Gordonia sensitivity to drugs such as ceftriaxone,linezolid,doxycycline,amoxicillin/clavulanic acid,mino-cycline,cefotaxime,trimethoprim/sulfamethoxazole,imipenem,tobramycin,and clarithromycin.The sensitivity rates of the isolated strains were 90.48%(19/21),100%(21/21),90.48%(19/21),90.48%(19/21),95.24%(20/21),90.48%(19/21),90.48%(19/21),90.48%(19/21),and 95.24%(20/21),respectively.Gordonia showed high resistance to rifampicin and cefepime,with rates of 28.57%(6/21)and 19.05%(4/21),respectively.Meanwhile,the resistance varied among bacterial strains.The resistance rate of G.sputi to rifampicin reached 71.43%(5/7),whereas that of G.parapffinivoras to cefepime was 37.5%(3/8).The main species of Gordo-nia isolated from sputum samples of patients in Henan Province were G.bronchialis,G.paraffinivoras,G.sputi,and G.aichiensis.Drug sensitivity tests indicated that drugs including amoxicillin/clavulanic acid,ceftriaxone,cefotaxime,tobramycin,clarithromycin,mi-nocycline,trimethoprim/sulfamethoxazole,linezolid,and doxycycline had good antibacterial effects against Gordonia.

Objective:To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies.Methods:A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children′s Medical Center (Group) in 2024 were selected as the study subject. Upon the woman′s two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51).Results:Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication.Conclusion:The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.

Objective:To explore the characteristics and evolution of mental health-related policies in China since the Reform and Opening-Up, and provide a reference for the formulating and developing future mental health policies.Method:Policy documents related to mental health, formulated at the national level since January 1979, were retrieved. The formulation of China′s mental health policies was divided into four stages: before 2005, 2006-2010, 2011-2015, and 2016-2023. Bibliometric methods such as co-word analysis and intergovernmental relations analysis were used to analyze the number of policy documents in each stage, the involvement of government departments, and the thematic hotspots of the policies.Result:A total of 121 mental health-related policy documents were retrieved from January 1, 1987, to October 31, 2023. The annual number of documents issued fluctuated since 2006, peaking at 17 in 2020; The number of departments involved in the drafting process has increased over time, from 4 departments in 1987-2005 to 37 departments in 2016-2023.The formulation of mental health policies has become increasingly detailed and operational, covering a more diverse range of thematic hotspots.Conclusion:The field of mental health policy in China shows a positive trend with deeper multi-department cooperation and policy content that increasingly aligned with the mental health needs of the general population, thereby promoting the sustainable development of mental health service to some extent.

Objective:To explore the characteristics and evolution of mental health-related policies in China since the Reform and Opening-Up, and provide a reference for the formulating and developing future mental health policies.Method:Policy documents related to mental health, formulated at the national level since January 1979, were retrieved. The formulation of China′s mental health policies was divided into four stages: before 2005, 2006-2010, 2011-2015, and 2016-2023. Bibliometric methods such as co-word analysis and intergovernmental relations analysis were used to analyze the number of policy documents in each stage, the involvement of government departments, and the thematic hotspots of the policies.Result:A total of 121 mental health-related policy documents were retrieved from January 1, 1987, to October 31, 2023. The annual number of documents issued fluctuated since 2006, peaking at 17 in 2020; The number of departments involved in the drafting process has increased over time, from 4 departments in 1987-2005 to 37 departments in 2016-2023.The formulation of mental health policies has become increasingly detailed and operational, covering a more diverse range of thematic hotspots.Conclusion:The field of mental health policy in China shows a positive trend with deeper multi-department cooperation and policy content that increasingly aligned with the mental health needs of the general population, thereby promoting the sustainable development of mental health service to some extent.

Objective To overview the development of mental hospitals in China over the past 15 years and provide evidence for making policy decisions and allocating resources.Methods The data of health resources and medical service in mental hospitals were extracted from China Health Statistics Yearbook,and pooled and analyzed by excel and SPSS20.0.Results Medical resources:(1) From 2002 to 2016,the health budget allocated to mental hospitals remained stable in China,ranging from 2％ to 3％.(2) The number of mental hospitals increased from 583 in 2002 to 1 026 in 2016.Compared to public hospitals,the number of private hospitals increased faster (x2=191.107,P＜0.01).(3) The median numbers of psychiatric beds in mental hospitals were 0.73 per 10 000 population in 2002 and 2.15 per 10 000 population in 2016.(4) The numbers of doctors and nurses in mental hospitals increased from 1.27 per 100 000 and 1.97 per 100 000 in 2002 to 2.15 per 100 000 and 4.55 per 100 000 in 2016 respectively.Medical service:(1) The numbers of visits and inpatients in mental hospitals increased from 10 340.1thousand and 425.4 thousand in 2002 to 35 009.2 thousand and 1 751.2 thousand in 2016.(2) The beds utilization ratio increased to 95.5％ in 2016 from 79.0％ in 2002.(3) There were only 2.53 daily visits and 4.58 daily inpatients per doctor in 2002,which have risen to 4.70 and 9.57 in 2016 respectively.Conclusion The mental health hospitals,psychiatric beds and psychiatric staff in China have dramatically increased from 2002 to 2016,and more and more people were seeking psychiatric medical services by years.Whereas,there are still some problems that need to be solved such as still low financial input given the heavier medical burden.

Objective To overview the development of mental hospitals in China over the past 15 years and provide evidence for making policy decisions and allocating resources.Methods The data of health resources and medical service in mental hospitals were extracted from China Health Statistics Yearbook,and pooled and analyzed by excel and SPSS20.0.Results Medical resources:(1) From 2002 to 2016,the health budget allocated to mental hospitals remained stable in China,ranging from 2％ to 3％.(2) The number of mental hospitals increased from 583 in 2002 to 1 026 in 2016.Compared to public hospitals,the number of private hospitals increased faster (x2=191.107,P＜0.01).(3) The median numbers of psychiatric beds in mental hospitals were 0.73 per 10 000 population in 2002 and 2.15 per 10 000 population in 2016.(4) The numbers of doctors and nurses in mental hospitals increased from 1.27 per 100 000 and 1.97 per 100 000 in 2002 to 2.15 per 100 000 and 4.55 per 100 000 in 2016 respectively.Medical service:(1) The numbers of visits and inpatients in mental hospitals increased from 10 340.1thousand and 425.4 thousand in 2002 to 35 009.2 thousand and 1 751.2 thousand in 2016.(2) The beds utilization ratio increased to 95.5％ in 2016 from 79.0％ in 2002.(3) There were only 2.53 daily visits and 4.58 daily inpatients per doctor in 2002,which have risen to 4.70 and 9.57 in 2016 respectively.Conclusion The mental health hospitals,psychiatric beds and psychiatric staff in China have dramatically increased from 2002 to 2016,and more and more people were seeking psychiatric medical services by years.Whereas,there are still some problems that need to be solved such as still low financial input given the heavier medical burden.

Objective To investigate the genotype of M.tuberculosis in He'nan Province.Methods A total of 668 M.tuberculosis clinical strains collected in difference regions of He'nan Province during 2015 were genotyped by two standard methods,including classical 24-locus mycobacterium interspersed repetitive unit variable-number tandem-repeat (MIRU-VNTR) typing and spoligotyping.Results The 668 isolates were divided into 11 clusters and 35 patterns by spoligotyping.Among the 558 Beijing strains,546 were typical Beijing strains and the other 12 were atypical Beijing strains.Among the 110 non-Beijing strains,eight were new strains and the remaining 102 non-Beijing strains were divided into 10 families.There were 76 isolates belonging to T family,including 59 of T1 families,7 of T2 families,and 10 of T3 families.The 668 strains were divided into 550 gene patterns by standard 24-locus VNTR,including 508 un-clustered patterns and 160 clustered into 42 clusters.The largest cluster contained 21 strains,the other clusters contained 2-20 strains.Conclusion Beijing strain is still the most prevalent M.tuberculosis in He'nan Province.