目的系统评价血友病患者(people with hemophilia,PWH)疾病感知和需求的质性研究。方法检索PubMed、Web of Science、Cochrane Library、Embase、CINAHL、中国知网、万方、维普及中国生物医学文献数据库中有关PWH疾病感知和需求的质性...目的系统评价血友病患者(people with hemophilia,PWH)疾病感知和需求的质性研究。方法检索PubMed、Web of Science、Cochrane Library、Embase、CINAHL、中国知网、万方、维普及中国生物医学文献数据库中有关PWH疾病感知和需求的质性研究。检索时限为建库至2024年1月。采用澳大利亚JBI循证卫生保健中心质性研究质量评价标准评价文献质量,以Meta整合方法对结果进行归纳和整合。结果共纳入17篇文献,提炼55个主题,归纳8个类别,形成4个整合结果:疾病症状困扰使日常生活受阻;社交和家庭关系受到重创;调适与应对;存在多方面未满足的需求。结论PWH存在多方面疾病感知和需求,医护人员应多角度关注并评估其负性情绪,完善社会多维度支撑体系,协助其制定个性化自我管理策略,联合多学科构建持续性专业支持系统。展开更多
Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted ma...Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted males,to the upper limit of normal,and may experience mental health issues.The purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of HCs.Additionally,we aimed to investigate the mental health status of HCs in China.Methods:A total of 127 hemophilia mothers,including 93 hemophilia A(HA)mothers and 34 hemophilia B(HB)mothers,were enrolled in this study.Long distance PCR,multiplex PCR,and Sanger sequencing were used to analyze mutations in F8 or F9.Coagulation factor activity was detected by a one-stage clotting assay.The Symptom Checklist 90(SCL-90,China/Mandarin version)was given to HCs at the same time to assess their mental health.Results:A total of 90.6%of hemophilia mothers were diagnosed genetically as carriers,with inversion in intron 22 and missense mutations being the most common mutation types in HA and HB carriers,respectively.The median clotting factor level in carriers was 0.74 IU/mL(ranging from 0.09 to 1.74 IU/mL)compared with 1.49 IU/mL(ranging from 0.93 to 1.89 IU/mL)in noncarriers,of which 14.3%of HCs had clotting factor levels of 0.40 IU/mL or below.A total of 53.8%(7/13)of HA carriers with low clotting factor levels(less than 0.50 IU/mL)had a history of bleeding,while none of the HB carriers displayed a bleeding phenotype.The total mean score and the global severity index of the SCL-90 for surveyed HCs were 171.00(±60.37)and 1.78(±0.59),respectively.A total of 67.7%of the respondents had psychological symptoms,with obsessive-compulsive disorder being the most prevalent and severe.The pooled estimates of all nine factors were significantly higher than those in the general population(P<0.05).Conclusions:The detection rate of gene mutations in hemophilia mothers was 90.6%,with a median clotting factor level of 0.74 IU/mL,and 14.3%of HCs had a clotting factor level of 0.40 IU/mL or below.A history of bleeding was present in 41.2%of HCs with low clotting factor levels(less than 0.50 IU/mL).Additionally,given the fragile mental health status of HCs in China,it is critical to develop efficient strategies to improve psychological well-being.展开更多
本文于2023年09月发表于《Blood》杂志,发表后引起业内广泛关注,在Blood Podcast(Episode 12 Season 6,https://ashpublications.org/blood/pages/blood_podcast)重点介绍并同期发布了述评文章(Roger J.S.Preston,2023,9,21)。本文文章...本文于2023年09月发表于《Blood》杂志,发表后引起业内广泛关注,在Blood Podcast(Episode 12 Season 6,https://ashpublications.org/blood/pages/blood_podcast)重点介绍并同期发布了述评文章(Roger J.S.Preston,2023,9,21)。本文文章题录为:Miao Jiang,Fei Yang,Yizhi Jiang,et al.Safety and efficacy of an anti-human APC antibody for prophylaxis of congenital factor deficiencies in preclinical models[J].Blood,2023,142(12):1071-1081.该研究基于先前发表的鼠抗体HAPC1573进行工程改造,获得一种可选择性阻断人活化蛋白C(APC)的抗凝活性而不影响APC细胞保护功能的人源化抗体SR604,并验证了其治疗先天性因子缺乏的安全性和有效性。该研究为先天性凝血因子缺乏患者提供了通过抑制内源性抗凝途径,使体内凝血系统与抗凝系统实现“再平衡”的新治疗策略。经通讯作者许可,再次通过佳文解读的方式来阐述这一研究。展开更多
文摘目的系统评价血友病患者(people with hemophilia,PWH)疾病感知和需求的质性研究。方法检索PubMed、Web of Science、Cochrane Library、Embase、CINAHL、中国知网、万方、维普及中国生物医学文献数据库中有关PWH疾病感知和需求的质性研究。检索时限为建库至2024年1月。采用澳大利亚JBI循证卫生保健中心质性研究质量评价标准评价文献质量,以Meta整合方法对结果进行归纳和整合。结果共纳入17篇文献,提炼55个主题,归纳8个类别,形成4个整合结果:疾病症状困扰使日常生活受阻;社交和家庭关系受到重创;调适与应对;存在多方面未满足的需求。结论PWH存在多方面疾病感知和需求,医护人员应多角度关注并评估其负性情绪,完善社会多维度支撑体系,协助其制定个性化自我管理策略,联合多学科构建持续性专业支持系统。
基金supported by Pfizer and the Haemophilia,Experience,Results,and Opportunities(HERO)Research Grant(Novo Nordisk).
文摘Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted males,to the upper limit of normal,and may experience mental health issues.The purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of HCs.Additionally,we aimed to investigate the mental health status of HCs in China.Methods:A total of 127 hemophilia mothers,including 93 hemophilia A(HA)mothers and 34 hemophilia B(HB)mothers,were enrolled in this study.Long distance PCR,multiplex PCR,and Sanger sequencing were used to analyze mutations in F8 or F9.Coagulation factor activity was detected by a one-stage clotting assay.The Symptom Checklist 90(SCL-90,China/Mandarin version)was given to HCs at the same time to assess their mental health.Results:A total of 90.6%of hemophilia mothers were diagnosed genetically as carriers,with inversion in intron 22 and missense mutations being the most common mutation types in HA and HB carriers,respectively.The median clotting factor level in carriers was 0.74 IU/mL(ranging from 0.09 to 1.74 IU/mL)compared with 1.49 IU/mL(ranging from 0.93 to 1.89 IU/mL)in noncarriers,of which 14.3%of HCs had clotting factor levels of 0.40 IU/mL or below.A total of 53.8%(7/13)of HA carriers with low clotting factor levels(less than 0.50 IU/mL)had a history of bleeding,while none of the HB carriers displayed a bleeding phenotype.The total mean score and the global severity index of the SCL-90 for surveyed HCs were 171.00(±60.37)and 1.78(±0.59),respectively.A total of 67.7%of the respondents had psychological symptoms,with obsessive-compulsive disorder being the most prevalent and severe.The pooled estimates of all nine factors were significantly higher than those in the general population(P<0.05).Conclusions:The detection rate of gene mutations in hemophilia mothers was 90.6%,with a median clotting factor level of 0.74 IU/mL,and 14.3%of HCs had a clotting factor level of 0.40 IU/mL or below.A history of bleeding was present in 41.2%of HCs with low clotting factor levels(less than 0.50 IU/mL).Additionally,given the fragile mental health status of HCs in China,it is critical to develop efficient strategies to improve psychological well-being.
文摘本文于2023年09月发表于《Blood》杂志,发表后引起业内广泛关注,在Blood Podcast(Episode 12 Season 6,https://ashpublications.org/blood/pages/blood_podcast)重点介绍并同期发布了述评文章(Roger J.S.Preston,2023,9,21)。本文文章题录为:Miao Jiang,Fei Yang,Yizhi Jiang,et al.Safety and efficacy of an anti-human APC antibody for prophylaxis of congenital factor deficiencies in preclinical models[J].Blood,2023,142(12):1071-1081.该研究基于先前发表的鼠抗体HAPC1573进行工程改造,获得一种可选择性阻断人活化蛋白C(APC)的抗凝活性而不影响APC细胞保护功能的人源化抗体SR604,并验证了其治疗先天性因子缺乏的安全性和有效性。该研究为先天性凝血因子缺乏患者提供了通过抑制内源性抗凝途径,使体内凝血系统与抗凝系统实现“再平衡”的新治疗策略。经通讯作者许可,再次通过佳文解读的方式来阐述这一研究。
