BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated w...BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated with autoimmune diseases,cancers, medication use, pregnancy, and the post-partum period. Bullous pemphigoid(BP) is a chronic autoimmune subepidermal blistering disease associatedwith tissue-bound and circulating autoantibodies against BP antigens 180 (BP180)and 230 (BP230). AHA-associated BP has a high mortality rate;hence, the understandingof this disease must improve.CASE SUMMARY A 69-year-old man presented with erythema, blisters, blood blisters, and crustsaccompanied by severe pruritus for more than 20 days, and ecchymosis andswelling on his left upper arm for 3 days. Pathological examination revealed asubepidermal blister that contained eosinophils. Laboratory tests showed that theBP180 autoantibody levels had increased, isolated activated partial thromboplastintime was notably prolonged (115.6 s), and coagulation FⅧ activity wasextremely low (< 1.0%). Furthermore, the FⅧ inhibitor titer had greatlyincreased (59.2 Bethesda units). Therefore, the patient was diagnosed as having BP associated with AHA, prescribed 0.05% topical halometasone cream, and transferred to a higher-level hospitalfor effective treatment;however, he died after 2 days.CONCLUSION AHA associated BP is rare, dangerous, and has a high mortality rate. Therefore, its timely diagnosis and effectivetreatment are necessary.展开更多
目的探讨富血小板血浆(PRP)联合透明质酸(HA)关节内注射与PRP单独注射相比的疗效和安全性,为膝骨性关节炎(KOA)的治疗提供循证策略。方法查阅PubMed、Web of Science、中国知网(CNKI)、万方数据库,检索建库初到2021年10月公开发表的文...目的探讨富血小板血浆(PRP)联合透明质酸(HA)关节内注射与PRP单独注射相比的疗效和安全性,为膝骨性关节炎(KOA)的治疗提供循证策略。方法查阅PubMed、Web of Science、中国知网(CNKI)、万方数据库,检索建库初到2021年10月公开发表的文献。纳入已发表的随机对照实验(RCT)或队列研究。研究对象为KOA患者,实验组为PRP联合HA关节内注射,对照组为PRP或HA关节内注射。对纳入RCT研究使用Cochrane手册风险评估工具进行质量评价,队列研究使用Newcastle-Ottawa Scale进行质量评价,用RevMan5.3软件对结局指标进行Meta分析。结果纳入10篇文献,共1110例患者,其中PRP组467例,PRP+HA组450例,HA组193例。Meta分析结果显示,PRP+HA组在治疗6个月后视觉模拟评分(VAS,MD:-0.31;95%CI(-0.60~-0.03);P=0.03)、西大略和麦克马斯特大学骨关节炎指数(WOMAC)评分(MD:-2.81;95%CI(-4.48~-1.13);P=0.001)、Lequesne指数(MD:-1.46;95%CI(-2.01~-0.90);P<0.00001)均显著优于PRP组;两组并发症发生率无统计学意义(RD:0.00;95%CI(-0.03~0.04);P=0.97)。结论PRP联合HA治疗KOA具有良好的临床治疗效果。基于此Meta分析,与单纯关节内注射PRP相比,PRP联合HA可提高治疗6个月后的WOMAC评分、VAS评分和Lequesne指数评分。在并发症发生率方面,两种治疗方案的安全性相似。展开更多
Objective:To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran.Methods:A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including th...Objective:To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran.Methods:A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including thalassemia,hemophilia,patients under hemodialysis and intravenous drug addicts.HCV genotypes were determined based on amplification with type-specific primers methods.Results:Among the 187 anti-HCV positive samples,only 135 (72.2%)gave HCV-RNA positvity.Over all,the most identified HCV type was genotype 3a(51.1%) followed by 1a(27.4%),1b(8.2%).Sixteen(11.9%)out of 135 HCV RNA-positive participants have infected with more than one genotype or subtypes as follow:1a/1b in 11(8.2%),2/3a in 3 (2.2%),and 1a/1b/3a in 2(1.5%).Stratification of participants revealed that HCV subtype 3a was more prominent in thalassemia,hemophilia and HD patients but 1a and 1b were frequent in intravenous drug addicts.Conclusions:This study is the first report on HCV genotypes among Iranian subjects with different exposure categories resided in Mazandaran.where genotype 3a was found to be the most frequent genotype in thalassemia,hemophilia,and hemodialysis patients but not in IDAs.Since the addiction age is decreasing in Iran and a lot of addicts are IDAs.it might change the subtype pattern of HCV in general population.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
To investigate the incidence,risk factors,clinical manifestations and prognosis of intracranial hemorrhage (ICH)in children with hemophilia A in a center of China, we conducted a retrospective analysis of 126 children...To investigate the incidence,risk factors,clinical manifestations and prognosis of intracranial hemorrhage (ICH)in children with hemophilia A in a center of China, we conducted a retrospective analysis of 126 children with hemophilia A at our hospital in recent 4 years.Thirty-six children with hemophilia A (including 19 severe cases,and 17 moderate cases complicated with joint diseases)received low dose factor Ⅷ (FⅧ) prophylaxis,and none of them had ICH.However,13 cases of hemophilia A not given prophylaxis were complicated with ICH (12 severe cases,and 1 moderate case)and demonstrated an incidence of 10.3%(13/126)in all patients,and 28.6%(12/42)in severe cases.Of the 13 cases,9 severe ICH cases had a definite history of head injury,accounting for 69.2%.Headache was common in children >3 years,but somnolence,irritability, gaze or convulsions in children <3 years.The most common findings of cranial CT scan included intracranial hematoma (9/13),and less commonly observed were subependymal hemorrhage and intraventricular hemorrhage.After administration of FⅧ,all patients survived.Hematoma of 6 cases was observed during CT reexamination after 1-3 months. During the follow-up period,only one case had slight activity limitation on one side of the limb,but steadily recovered.Besides the decreased concentration of FⅧ,trauma is the most common risk factor of ICH in children with hemophilia A.The active treatment can improve the prognosis of ICH in children with hemophilia A.展开更多
Introduction and objective: Hemophilia is a genetic bleeding disorder inherited as a recessive train linked to the male gender. Bleeding into the central nervous system in patients with hemophilia is an extremely dang...Introduction and objective: Hemophilia is a genetic bleeding disorder inherited as a recessive train linked to the male gender. Bleeding into the central nervous system in patients with hemophilia is an extremely dangerous condition that can be directly life-threatening, if left untreated. Extradural hematoma of the dorso-lumbar region is rare but potentially deadly disease in children. This condition can result in severe neurological deficits. We aim to discuss the clinical, radiological and progressive clinical aspects of this illness. Case report: We report the case of a 5-year-old child with severe hemophilia A treated for extradural hematoma of the dorso-lumbar region resulting from trauma. A spinal magnetic resonance imaging revealed an extradural hematoma. The patient was successfully treated with intensive replacement therapy and did not require surgical intervention. Conclusion: Extradural hematoma is a rare complication of hemophilia, that needs to be looked for in children who have bleeding disorders. For the best neurological outcome, early diagnosis is crucial.展开更多
基金Supported by Traditional Chinese Medicine Research Program of Hebei Provincial Administration of Traditional Chinese Medicine,No.2025313 and No.2025448.
文摘BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated with autoimmune diseases,cancers, medication use, pregnancy, and the post-partum period. Bullous pemphigoid(BP) is a chronic autoimmune subepidermal blistering disease associatedwith tissue-bound and circulating autoantibodies against BP antigens 180 (BP180)and 230 (BP230). AHA-associated BP has a high mortality rate;hence, the understandingof this disease must improve.CASE SUMMARY A 69-year-old man presented with erythema, blisters, blood blisters, and crustsaccompanied by severe pruritus for more than 20 days, and ecchymosis andswelling on his left upper arm for 3 days. Pathological examination revealed asubepidermal blister that contained eosinophils. Laboratory tests showed that theBP180 autoantibody levels had increased, isolated activated partial thromboplastintime was notably prolonged (115.6 s), and coagulation FⅧ activity wasextremely low (< 1.0%). Furthermore, the FⅧ inhibitor titer had greatlyincreased (59.2 Bethesda units). Therefore, the patient was diagnosed as having BP associated with AHA, prescribed 0.05% topical halometasone cream, and transferred to a higher-level hospitalfor effective treatment;however, he died after 2 days.CONCLUSION AHA associated BP is rare, dangerous, and has a high mortality rate. Therefore, its timely diagnosis and effectivetreatment are necessary.
文摘目的探讨富血小板血浆(PRP)联合透明质酸(HA)关节内注射与PRP单独注射相比的疗效和安全性,为膝骨性关节炎(KOA)的治疗提供循证策略。方法查阅PubMed、Web of Science、中国知网(CNKI)、万方数据库,检索建库初到2021年10月公开发表的文献。纳入已发表的随机对照实验(RCT)或队列研究。研究对象为KOA患者,实验组为PRP联合HA关节内注射,对照组为PRP或HA关节内注射。对纳入RCT研究使用Cochrane手册风险评估工具进行质量评价,队列研究使用Newcastle-Ottawa Scale进行质量评价,用RevMan5.3软件对结局指标进行Meta分析。结果纳入10篇文献,共1110例患者,其中PRP组467例,PRP+HA组450例,HA组193例。Meta分析结果显示,PRP+HA组在治疗6个月后视觉模拟评分(VAS,MD:-0.31;95%CI(-0.60~-0.03);P=0.03)、西大略和麦克马斯特大学骨关节炎指数(WOMAC)评分(MD:-2.81;95%CI(-4.48~-1.13);P=0.001)、Lequesne指数(MD:-1.46;95%CI(-2.01~-0.90);P<0.00001)均显著优于PRP组;两组并发症发生率无统计学意义(RD:0.00;95%CI(-0.03~0.04);P=0.97)。结论PRP联合HA治疗KOA具有良好的临床治疗效果。基于此Meta分析,与单纯关节内注射PRP相比,PRP联合HA可提高治疗6个月后的WOMAC评分、VAS评分和Lequesne指数评分。在并发症发生率方面,两种治疗方案的安全性相似。
基金financially supported by Molecular and Cell Biology Research Center,Mazandaran University of Medical Sciences,with grant number MCBRC-MAZUMS-89-52
文摘Objective:To determine the patterns of distribution of HCV genotypes among high risk population in north of Iran.Methods:A cross-sectional study was conducted on 135 HCV RNA-positive high risk individuals including thalassemia,hemophilia,patients under hemodialysis and intravenous drug addicts.HCV genotypes were determined based on amplification with type-specific primers methods.Results:Among the 187 anti-HCV positive samples,only 135 (72.2%)gave HCV-RNA positvity.Over all,the most identified HCV type was genotype 3a(51.1%) followed by 1a(27.4%),1b(8.2%).Sixteen(11.9%)out of 135 HCV RNA-positive participants have infected with more than one genotype or subtypes as follow:1a/1b in 11(8.2%),2/3a in 3 (2.2%),and 1a/1b/3a in 2(1.5%).Stratification of participants revealed that HCV subtype 3a was more prominent in thalassemia,hemophilia and HD patients but 1a and 1b were frequent in intravenous drug addicts.Conclusions:This study is the first report on HCV genotypes among Iranian subjects with different exposure categories resided in Mazandaran.where genotype 3a was found to be the most frequent genotype in thalassemia,hemophilia,and hemodialysis patients but not in IDAs.Since the addiction age is decreasing in Iran and a lot of addicts are IDAs.it might change the subtype pattern of HCV in general population.
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To investigate the incidence,risk factors,clinical manifestations and prognosis of intracranial hemorrhage (ICH)in children with hemophilia A in a center of China, we conducted a retrospective analysis of 126 children with hemophilia A at our hospital in recent 4 years.Thirty-six children with hemophilia A (including 19 severe cases,and 17 moderate cases complicated with joint diseases)received low dose factor Ⅷ (FⅧ) prophylaxis,and none of them had ICH.However,13 cases of hemophilia A not given prophylaxis were complicated with ICH (12 severe cases,and 1 moderate case)and demonstrated an incidence of 10.3%(13/126)in all patients,and 28.6%(12/42)in severe cases.Of the 13 cases,9 severe ICH cases had a definite history of head injury,accounting for 69.2%.Headache was common in children >3 years,but somnolence,irritability, gaze or convulsions in children <3 years.The most common findings of cranial CT scan included intracranial hematoma (9/13),and less commonly observed were subependymal hemorrhage and intraventricular hemorrhage.After administration of FⅧ,all patients survived.Hematoma of 6 cases was observed during CT reexamination after 1-3 months. During the follow-up period,only one case had slight activity limitation on one side of the limb,but steadily recovered.Besides the decreased concentration of FⅧ,trauma is the most common risk factor of ICH in children with hemophilia A.The active treatment can improve the prognosis of ICH in children with hemophilia A.
文摘Introduction and objective: Hemophilia is a genetic bleeding disorder inherited as a recessive train linked to the male gender. Bleeding into the central nervous system in patients with hemophilia is an extremely dangerous condition that can be directly life-threatening, if left untreated. Extradural hematoma of the dorso-lumbar region is rare but potentially deadly disease in children. This condition can result in severe neurological deficits. We aim to discuss the clinical, radiological and progressive clinical aspects of this illness. Case report: We report the case of a 5-year-old child with severe hemophilia A treated for extradural hematoma of the dorso-lumbar region resulting from trauma. A spinal magnetic resonance imaging revealed an extradural hematoma. The patient was successfully treated with intensive replacement therapy and did not require surgical intervention. Conclusion: Extradural hematoma is a rare complication of hemophilia, that needs to be looked for in children who have bleeding disorders. For the best neurological outcome, early diagnosis is crucial.
