Paternal mosaicism and hereditary angioedema in a Taiwanese family.

BACKGROUND: Hereditary angioedema (HAE) is a rare disorder characterized by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 INH). Most patients with HAE have an absolute deficiency of C1 INH (type I HAE), whereas the rest (approximately 15%) synthesize a dysfunctional C1 INH protein (type II HAE). Mosaicism is rare in HAE. OBJECTIVE: To describe the clinical manifestations, laboratory findings, and molecular genetic studies in a Taiwanese family with type I HAE with paternal mosaicism. METHODS: A family that included a 34-year-old man (index patient) and his 25-year-old brother who both had recurrent peripheral angioedema was evaluated. A younger sister had died of an unexplained cause at 18 years of age. We analyzed blood levels of C3, C4, and C1 INH and sequenced the SERPING] (C1NH) gene that codes for C1 INH in 5 family members, including the parents and 3 brothers. RESULTS: The 4 men in the family had a novel mutation c.3_73del, p.N1fsX34 in exon 3 of the C1INH gene, resulting in C1 INH deficiency. Although the father carried this mutant gene, he had normal serum levels of C1 INH. Based on quantitative analysis of allele dosage by DNA fragment analysis (GeneScan), the father was determined to have genetic mosaicism. CONCLUSION: Parental mosaicism is a possible explanation for normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children.     

中国株HIV-1 gp120核酸疫苗的实验免疫研究

目的　探讨表达中国株HIV 1gp12 0基因的核酸疫苗在小鼠体内的免疫反应。方法　将表达HIV 1gp12 0的核酸疫苗质粒pVAXP经肌肉注射免疫Balb c小鼠 ,检测免疫小鼠脾CD4 +、CD8+T细胞亚群的数量 ,脾特异性CTL杀伤活性和血清抗体滴度。结果　重组质粒pVAXP免疫组小鼠脾CD4 +、CD8+T细胞亚群的数值均比对照组高 (P <0 .0 5 ) ;免疫组脾特异性CTL杀伤活性与对照组相比差异极显著 (P <0 .0 1) ;血清抗体滴度显著高于对照组 (P <0 .0 5 )。结论　表达HIV 1gp12 0基因的核酸疫苗质粒pVAXP能诱导小鼠产生特异性细胞和体液免疫。     

Analysis of proteins and lipopolysaccharides from Chinese isolates of Coxiella burnetii with monoclonal antibodies.

Four Coxiella burnetii isolates in China and two reference strains were compared by SDS-PAGE and immunoblotting. The SDS-PAGE profiles of whole cells and LPS of Chinese isolates Qiyi, Xinqiao, and YS-8 were found closely related to Henzerling strain, and different from the Grita strain. In immunoblot assay of LPS and proteinase K-digested whole rickettsiae minor differences were seen in polysaccharide structure among the Chinese isolates by phase I monoclonal antibody. The present results suggest that the strains reported here may be divided into three groups according to the polysaccharide structure: Xinqiao and Henzerling strains (1), YS-8 and Grita (2), and Qiyi (3).     

Effects of establishing a financing scheme for outpatient care on inpatient services: empirical evidence from a quasi-experiment in China

The European Journal of Health Economics - The relationship between outpatient and inpatient care is central to the current healthcare reform debate especially in developing countries. Despite the...     

思美泰治疗妊娠胆汁淤积症的疗效观察

妊娠胆汁淤积症(ICP)是一种在妊娠期出现的以皮肤搔痒和黄疸为特征的较常见的并发症, 易导致早产、胎儿窘迫、死胎、新生儿死亡及产后出血等,严重影响围产儿安 全。思美泰是一种治疗ICP的新药,疗效显著。现将1998年10月～2000年10月收治的60例ICP 随机应用思美泰和门冬氨酸钾镁治疗,报道如下： 1　资料和方法 1.1　临床资料来源 　　60例ICP均为本院住院病人,年龄22～35岁,平均26.7岁,初产妇52人,经产妇8人,均有皮 肤搔痒和肝功能异常,肝类病原学指标全部阴性,并排除妊高征肝损,急性脂肪肝及药物性 肝炎。随机分为2组,2组病例年龄、病情、肝功能损害程度和孕周无显著差异。 1.2　治疗方案 　　治疗组采用德国基诺药厂生产的思美泰注射液1g,由稀释液溶解加入5%葡萄糖注射液250ml 中静滴,每日1次,持续4周。对照组采用杭州民生药厂生产的门冬氨酸钾镁注射液30ml加入 5%葡萄糖注射液250ml中静滴,每日1次,持续4周。2组基础药物相同,包括Vitc、复方益 肝灵及中药茵陈汤。 1.3　疗效判断 　　疗效判断标准分为3组：①显效：用药后患者症状、体征明显改善,生化(谷丙转氨酶、总 胆红素、总胆汁酸)恢复正常或降至治疗前基础的50%以上;②有效：症状体征改善,生化指 标有下降,但未降至基础的50%;③无效：症状体征及生化指标没有改善或有加重者。显效 和有效合计称为有效病例,据此计算有效率。     

肾衰透析患者拔牙的临床研究

目的 :探讨肾衰透析患者拔牙的安全性。　方法 :对 42例肾衰血透患者行 98次拔牙手术 ,共拔除患牙 12 2颗 ,术前采取全口洁治、服用抗生素、控制血压等措施 ,术后加强局部止血处理 ,预防出血、感染及心血管系统等并发症的发生。　结果 :透析组术后出血 44次 ,拔牙创口血块充盈不良或脱落 2 7次 ;对照组分别为 4和 5次 (94次手术 ,P<0 .0 5 )。拔牙创口定期观察 1个月 ,均愈合良好。　结论 :慢性肾衰患者通过透析 ,尿毒症得到控制和改善时 ,在作好围拔牙期处理的情况下 ,行拔牙手术是安全可行的     

新型免疫抑制剂霉酚酸酯治疗狼疮性肾炎

目的观察新型免疫抑制剂霉酚酸酯(M.MF)治疗狼疮性肾炎的临床疗效和安全性。方法经肾活检证实的20例狼疮性肾炎,给予糖皮质激素联合MMF治疗。MMF初始剂量1.0～1.5g/d,治疗时间321个月,平均(10.9±6.2)个月。结果MMF治疗后24h尿蛋白定量从治疗前的平均5.55g下降至1.54g;d清白蛋白治疗前平均26.87g升至39g;6/8例肾功能不全患者3个月内Scr恢复正常;d清自身抗体产生明显减少,补体上升,其中ANA转阴率3个月达63％,6个月达81％;抗ds-DNA由治疗前23.77IU／ml下降至9.19IU／ml;2例重复活检,肾小球活动性病变明显减轻。MMF治疗的不良反应较少,偶有白细胞减少、感染、带状疱疹等。结论MMF对于各型狼疮性肾炎,尤其是Ⅳ型重症狼疮,经传统治疗无效者均有较好疗效,且长期应用不良反应少。     

The association between caudal block and urethroplasty complications of distal tubularized incised plate repair: experience from a South China National Children’s Medical Center

BackgroundThe effect of caudal block (CB) on the incidence of urethroplasty complications in hypospadias repair remains controversial. The evidence is conflicting, and some confounding bias issues need to be addressed. We sought to study a more homogenous group of distal hypospadias patients undergoing primary tubularized incised plate (TIP) repair by a senior pediatric urology surgeon in the past 2 years to examine the relationship between urethroplasty complications and the use of CB.MethodsWe reviewed our database to identify consecutive patients who had undergone hypospadias repairs by a senior director surgeon at our Center between January 2018 and November 2020. To be eligible to participate in the study, patients had to meet the following inclusion criteria: (I) have distal hypospadias; (II) have undergone a primary TIP repair; and (III) have attended follow-up appointments for a minimum period of 6 months. The primary outcome was the development of urethroplasty complications during the follow-up period. The principal variable of interest was whether or not CB was used perioperatively. The patients were categorized into a CB group (general anesthesia combined with CB) or a control group (general anesthesia only). Other potential risk factors were analyzed, including patient age at operation, patient weight, glans width, and the length of the urethral plate defect.ResultsThirty (12.2%) of the distal patients developed postoperative surgical complications. The postoperative surgical complication rates were similar between the different anesthesia groups. Weight, the length of the urethral plate length, and glans width did not contribute to the risk. Age was the only independent risk factor for postoperative surgical complications, and the complication rates increased in older patients.ConclusionsOur data from consecutive TIP repairs in distal hypospadias patients indicated no association between the use of CB anesthesia and the postoperative urethroplasty complication rate. Patients who were older in age when they underwent surgery had a higher risk of complications.