目的观察儿童主动脉缩窄术后血压异常的情况,并探讨其与内皮功能损害的关系。方法选取23例主动脉缩窄(coarctation of the aorta,CoA)患儿,20例健康儿童(健康组)作对照,均于基线(术后1周)、8年随访(术后8年)监测血压、超声下右肱动脉充...目的观察儿童主动脉缩窄术后血压异常的情况,并探讨其与内皮功能损害的关系。方法选取23例主动脉缩窄(coarctation of the aorta,CoA)患儿,20例健康儿童(健康组)作对照,均于基线(术后1周)、8年随访(术后8年)监测血压、超声下右肱动脉充血性反应后血流介导的舒张功能(flow⁃mediated dilation,FMD)、血清可溶性E选择素(soluble E⁃selectin,sE⁃selectin)。按照8年随访时的血压,将主动脉缩窄儿童分为术后血压异常组[CoA BP(+)组]和术后血压正常组[CoA BP(-)组]。结果在8年随访中,41.18%的主动脉缩窄儿童出现血压异常,其中5例为血压升高,2例达到高血压标准。CoA BP(+)组、CoA BP(-)组在基线及8年随访的FMD均低于同期的健康组(P<0.05),而CoA BP(+)组的FMD低于同期的CoA BP(-)组(P<0.05)。CoA两个亚组在基线及8年随访的sE⁃selectin均高于同期的健康组(P<0.01),而CoA BP(+)组的sE⁃selectin高于同期的CoA BP(-)组(P<0.01)。结论本研究发现部分主动脉缩窄儿童在术后长期随访中出现血压异常,与术后血压正常的儿童相比,术后血压异常的儿童血管内皮功能损害更明显。展开更多
Background Recent studies have reported germline mutations in the perforin gene （PRF1） in some types of hemophagocytic lymphohistiocytosis （HLH）. However, the prevalence of PRF1 mutations in HLH in Chinese pediatr...Background Recent studies have reported germline mutations in the perforin gene （PRF1） in some types of hemophagocytic lymphohistiocytosis （HLH）. However, the prevalence of PRF1 mutations in HLH in Chinese pediatric patients has not been extensively studied. The aim of this study was to investigate the prevalence of mutations and sequence variations in the PRF1 gene in Chinese pediatric patients with HLH. Methods Polymerase chain reaction （PCR） was performed with five pairs of primers for the coding exons and the flanking intron sequences of PRF1. Sequencing of PCR products was subsequently applied in 30 pediatric patients with HLH and in 50 controls. Results Three heterozygous mutations in a coding region were found, which resulted in amino acid changes （C102F, S108N and T450M） in three patients. These mutations were not detected in control subjects. One patient had compound heterozygous mutations （S108N and T450M） in PRF1 as the background defect, and documented familial HLH type 2 （FHL2）. One synonymous sequence variant （Q540Q） was observed in one patient but not in the controls. Two SNPs （A274A, H300H） in the coding region were detected in HLH patients and controls, but without differences in the heterozygosity rate between the two groups （P 〉0.05 for all comparisons）. Conclusions We have identified three patients with three heterozygous missense mutations in PRF1; two of those three mutations （C102F and S108N） have so far been found only from Chinese patients. These findings are useful in evaluating the prevalence of PRF1 mutations in Chinese pediatric patients with HLH, and to correlate their genotype with phenotype. Some patients without familial history probably have primary HLH, which should be suspected even beyond the usual age range.展开更多
A族链球菌(Group A Streptococcus,GAS)是最常见的病原体之一,尤其对于儿童。在全球范围内,GAS感染是导致发病和死亡的重要原因。但GAS造成的疾病负担在我国尚未知,也未得到足够的重视。为此,本专家共识在儿童GAS疾病诊断、治疗和预防...A族链球菌(Group A Streptococcus,GAS)是最常见的病原体之一,尤其对于儿童。在全球范围内,GAS感染是导致发病和死亡的重要原因。但GAS造成的疾病负担在我国尚未知,也未得到足够的重视。为此,本专家共识在儿童GAS疾病诊断、治疗和预防方面进行了全面阐述,涵盖了呼吸病学、感染病学、免疫学、微生物学、心脏病学、肾脏病学、重症医学和预防医学的相关方面,旨在改善中国儿童GAS疾病的管理策略。展开更多
文摘Background Recent studies have reported germline mutations in the perforin gene （PRF1） in some types of hemophagocytic lymphohistiocytosis （HLH）. However, the prevalence of PRF1 mutations in HLH in Chinese pediatric patients has not been extensively studied. The aim of this study was to investigate the prevalence of mutations and sequence variations in the PRF1 gene in Chinese pediatric patients with HLH. Methods Polymerase chain reaction （PCR） was performed with five pairs of primers for the coding exons and the flanking intron sequences of PRF1. Sequencing of PCR products was subsequently applied in 30 pediatric patients with HLH and in 50 controls. Results Three heterozygous mutations in a coding region were found, which resulted in amino acid changes （C102F, S108N and T450M） in three patients. These mutations were not detected in control subjects. One patient had compound heterozygous mutations （S108N and T450M） in PRF1 as the background defect, and documented familial HLH type 2 （FHL2）. One synonymous sequence variant （Q540Q） was observed in one patient but not in the controls. Two SNPs （A274A, H300H） in the coding region were detected in HLH patients and controls, but without differences in the heterozygosity rate between the two groups （P 〉0.05 for all comparisons）. Conclusions We have identified three patients with three heterozygous missense mutations in PRF1; two of those three mutations （C102F and S108N） have so far been found only from Chinese patients. These findings are useful in evaluating the prevalence of PRF1 mutations in Chinese pediatric patients with HLH, and to correlate their genotype with phenotype. Some patients without familial history probably have primary HLH, which should be suspected even beyond the usual age range.
文摘A族链球菌(Group A Streptococcus,GAS)是最常见的病原体之一,尤其对于儿童。在全球范围内,GAS感染是导致发病和死亡的重要原因。但GAS造成的疾病负担在我国尚未知,也未得到足够的重视。为此,本专家共识在儿童GAS疾病诊断、治疗和预防方面进行了全面阐述,涵盖了呼吸病学、感染病学、免疫学、微生物学、心脏病学、肾脏病学、重症医学和预防医学的相关方面,旨在改善中国儿童GAS疾病的管理策略。
