蛋白酶体相关自身炎症综合征研究进展

随着对自身炎症性疾病研究的不断深入,近年来发现了由蛋白酶体基因突变所致的一系列临床综合征,包括中条-西村综合征、伴脂肪代谢障碍的日本炎症综合征、关节挛缩-肌萎缩-小细胞贫血-脂膜炎相关脂营养不良综合征以及慢性非典型中性粒细胞性皮炎伴脂营养不良和发热。这类疾病统称为蛋白酶体相关自身炎症综合征或蛋白酶体病。与目前已知的由白细胞介素（IL）-1介导的自身炎症性疾病相比,蛋白酶体相关自身炎症综合征的基因突变导致蛋白酶体功能障碍、Ⅰ型干扰素（IFN）持续产生,且对IL-1抑制剂的治疗无反应。针对IFN途径的JAK1/JAK2抑制剂可望为这类患者带来疗效。     

多形核白细胞凋亡在全身炎症反应综合征中的作用

全身炎症反应综合征被认为是多器官功能障碍综合征的前奏 ,许多炎症细胞参与了这一过程 ,释放各种炎症介质与细胞因子 ,引起炎症失控和免疫紊乱。多形核白细胞 (PMNs)是人体对抗感染与异己物质的第一道防线 ,通常情况下PMNs以凋亡的形式被清除 ,对周围组织无损伤 ,但是在全身炎症反应综合征中 ,PMNs的凋亡明显延迟 ,其细胞毒性的持续存在造成炎症反应过度 ,在其坏死时细胞膜破裂 ,各种细胞毒性物质被释放 ,进一步造成组织器官损伤。许多炎症介质和细胞因子参与了PMNs凋亡的调控 ,关于凋亡调控机制的研究也在进一步深入。     

多形核白细胞凋亡在全身炎症反应综合征中的作用

全身炎症反应综合征被认为是多器官功能障碍综合征的前奏,许多炎症细胞参与了这一过程,释放各种炎症介质与细胞因子,引起炎症失控和免疫紊乱.多形核白细胞(PMNs)是人体对抗感染与异己物质的第一道防线,通常情况下PMNs以凋亡的形式被清除,对周围组织无损伤,但是在全身炎症反应综合征中,PMNs的凋亡明显延迟,其细胞毒性的持续存在造成炎症反应过度,在其坏死时细胞膜破裂,各种细胞毒性物质被释放,进一步造成组织器官损伤.许多炎症介质和细胞因子参与了PMNs凋亡的调控,关于凋亡调控机制的研究也在进一步深入.     

全身炎症反应综合征126例回顾性分析

目的总结全身炎症反应综合征患儿的临床特点,早期识别危重患儿全身炎症反应综合征的发生,早期治疗,提高抢救成功率。方法对126例危重患儿全身炎症反应综合征、多脏器功能不全的发生和转归进行回顾性分析。结果 126例患儿107例(84.9%)为早期全身炎症反应综合征很快痊愈,19例中晚期全身炎症反应综合征通过抢救痊愈16例(12.7%),死亡3例(2.4%)。结论引发小儿全身炎症反应综合征、多脏器功能不全等原发病及诱因多而复杂,应引起临床重视。     

感染性腹泻致全身炎症反应综合征婴幼儿血小板参数、凝血功能研究

目的探讨感染性腹泻致全身炎症反应综合征(SIRS)患儿血小板参数、凝血功能关系。方法检测感染性腹泻伴全身炎症反应综合征患儿的血小板数目、平均体积、分布宽度、凝血酶原时间以及纤维蛋白原浓度等值。并与30例对照组比较。结果感染性腹泻的血小板参数、凝血指数及发生全身炎症反应综合征的对比均有显著性意义。结论监测血小板参数、凝血功能以及是否发生全身炎症反应综合征对于感染性腹泻的诊断和治疗有一定的临床意义。     

小剂量肝素佐治婴幼儿肺炎合并全身炎症反应综合征的临床研究

婴幼儿肺炎是儿科常见病 ,合并多脏器功能衰竭 (MOF)是导致临床死亡的主要原因。随着对多脏器功能衰竭发生机制的深入研究 ,目前认为早期全身炎症反应综合征 (SIRS)是各种危重急症发展为多脏器功能不全综合征 (MODS) ,直至MOF的基本环节。而许多全身炎症反应综合征患者存在微循环障碍、微血栓形成 ,甚至DIC。我科从 1999年 9月至 2 0 0 4年 3月应用小剂量肝素辅助治疗婴幼儿肺炎合并全身炎症反应综合征 5 0例 ,取得了显著疗效 ,报告如下。1　资料和方法1.1　研究对象10 4例婴幼儿肺炎合并全身炎症反应综合征患者 ,随机分为 2组。治疗…     

重视全身炎症反应综合征和代偿性抗炎症反应综合征平衡的研究

全身炎症反应综合征(systemic inflammatoryresponse syndrome,SIRS)是1991年美国胸科医师学会/危重症医学会(ACCP/SCCM)在芝加哥联合召开的讨论会上提出的,指由感染或非感染因素引起炎症因子瀑布式释放,引起组织损伤,最后可能发展为多器官功能障碍综合征(multiple organ dys-function syndrome,MODS)。目前研究主要集中在     

全身炎症反应综合征与脓毒症

全身炎症反应综合征一、定义全身炎症反应综合征(systemic inflammato-ry response syndrome,SIRS)是机体对各种严重损伤,包括感染、创伤、烧伤、缺氧和再灌注等引起的全身反应。机体受到严重打击后引起免疫系统的应激反应,包括多种炎性介质的大量释放,导致抗炎反应与致炎反应系统失衡,若过度的炎症反应继续发展或恶化,可导致急性肺损伤(ALI)、急性呼吸窘迫综合征(ARDS)、多器官障碍综合征(MODS)或MSOF等。SIRS的含义比脓毒症(sepsis)更广泛,更有意义,它不是一种疾病,而是基于对感染、炎症和危重症发生、发展机制深入认识提出的新…     

败血性休克发病机制的研究进展

败血性休克的发病基础是机体过强的炎症反应。现代研究认为活化的细胞因子相互作用而中介产生的周身性炎症反应综合征充分反映了败血性休克的病理生理与临床表现。周身性炎症反应综合征可分为几个不同的阶段。包括败血症、败血综合征、休克早期、难治性休克、多脏器损害和死亡。参与炎症反应的因子主要有白细胞介素－１、血小板激活因子、肿瘤坏死因子、脂多糖和多形核白细胞等。病原体代谢产物与细胞因子相互作用的结果：激活了补体－凝血系统，激活了激肽释放酶，体内释放β－内啡肽及多形核白细胞在数量、形态与功能上的改变。使机体始终处于高敏的炎症反应中，形成毛细血管通透性增强，内皮受损，血小板凝聚加强和平滑肌收缩。最终造成休克的徽循环障碍。     

胎儿炎症反应综合征与新生儿疾病

胎儿炎症反应综合征（FIRS）是指胎儿免疫系统被激活释放大量致炎因子而导致的一种亚临床状态,是全身炎症反应综合征（SIRS）在胎儿期的特殊表现形式。宫内感染是导致FIRS的最常见病因。FIRS与早产、早产儿脑白质损伤、支气管肺发育不良、新生儿坏死性小肠结肠炎等多种新生儿疾病的发生密切相关。     

45,X/46,XY/47,XYY mosaicism in a phenotypic female with gonadoblastoma

A case of a phenotypic female patient with 45,X/46,XY/47,XYY mosaicism found in lymphocytes as well as in cell cultures prepared from a gonadoblastoma removed by adnexectomy is reported. The two investigated tissues displayed a different distribution of the three cell lines.     

Concentrations of LTB4, LTC4, LTD4 and LTE4 in bronchiolitis due to respiratory syncytial virus

Fifty-five infants with bronchiolitis due to respiratory syncytial virus were evaluated for the presence of leukotriene B₄, C₄, D₄ and E₄ in nasopharyngeal secretions. An attempt was made to correlate concentrations of leukotrienes to arterial oxygen tension. Forty participants received conventional therapy consisting primarily of aerosolized albuterol and occasional aminophylline therapy. The other 15 individuals received ribavirin therapy in addition to conventional therapy, and leukotriene concentrations were compared among individuals in these groups. RSV infection was documented by standard methods, and leukotrienes were measured by reverse-phase high pressure liquid chromatography. The leukotriene detected most commonly was LTC₄ (up to 83% of subjects); LTD₄ and LTB₄ were present in approximately 30% of individuals. The mean partial pressure of oxygen was found to be lower in those individuals with detectable LTB₄ than in those without detectable LTB₄ (p < 0.025), and an overall inverse correlation of LTB₄ concentrations with initial pO₂ values was observed (r = 0.318, p < 0.05). The presence and quantity of other leukotrienes did not correlate with the severity of illness. During the first week of illness, the concentration of leukotrienes declined sharply in ribavirin recipients. Individuals receiving conventional therapy during the same time interval exhibited stable or increasing leukotriene concentrations. These observations suggest that LTB₄ may be important in the pathogenesis of bronchiolitis, and that ribavirin therapy may inhibit leukotriene release in the respiratory tract.     

Diagnostic, preventive, medical and surgical management of alpha1-antitrypsin deficiency in childhood

Only 10 years ago the management of alpha₁-antitrypsin deficiency (AATD) as one of the most frequent hepatic-based metabolic disorders in children had been restricted to diagnostic and palliative therapeutic aspects (1). After liver transplantation became an optional curative therapy in patients suffering from end-stage liver disease (2), the transplantation of chronic end-stage liver disease caused by AATD has extended to one of the most frequent indications in hepatic-based metabolic disorders. Recently, new pathophysiological concepts of the development of liver damage in AATD have enabled us to examine optimized prevention therapy in this disorder (3, 4). This paper attempts to show how optimized therapy of affected children may be achieved.     

Cerebral Blood Flow, PaCO2 Changes, and Visual Evoked Potentials in Mechanically Ventilated, Preterm Infants

ABSTRACT. Two estimations of global cerebral blood flow (CBF) using 133-Xenon clearance were done with an interval of about one hour in 16 mechanically ventilated, newborn infants, of less than 33 weeks gestational age. In eight infants CBF was estimated just before a change in ventilator settings, and again when the Pa_co2 was stable. In the remaining eight infants small spontaneous changes in Pa_co2 occurred. The CBF-CO₂ reactivity was similar in the two groups (+67%/kPa (95% confidence interval 13–146) and 52%/kPa (24–86)) and considerably higher than the CBF-CO₂ reactivity estimated from the interindividual variation of flow and Pa_co2 (+19%/kPa (4–36)). There were no significant relations between CBF and arterial blood pressure. Flash evoked potentials (VEP) were recorded during the 133-Xenon clearances in 8 of the infants. VEP showed no relation to changes in CBF, even when the blood flow rose from the lowest levels. CBF and VEP were obtained once in 9 other infants. Among the 17 infants, the latency of the first negative wave of the VEP was not related to the CBF level. Mean CBF in the 25 infants was 12.3 ml/100 g/min (range 4.3 to 18.9), mean Pa_co2 was 4.2 kPa (range 2.3 to 6.4). Thus, CBF-CO₂ reactivity appeared to be normal in these clinically stable, mechanically ventilated, preterm infants, suggesting that their low cerebral blood flow was well regulated. The absence of a relation of CBF with VEP suggested that cerebral blood flow was not critically decreased.