Hereditary angio-oedema: new clinical observations and autoimmune screening, complement and kallikrein-kinin analyses

Objectives. To study clinical and laboratory manifestations of hereditary angio-oedema (HAE).
Subjects. Thirty-three affected members of a kindred of 63.
Results. Oedematous attacks in the skin, mucous membranes and gastrointestinal tract with fluid displacement were elicited by mental and physical stress, minor traumas, dental and surgical procedures, eruption of teeth, tonsillitis, pregnancies, and use of oestrogen-containing pills including menopausal substitution. Every adult woman with symptomatic HAE ( n =11) showed symptoms of urinary tract infections in conjunction with the attacks ( P = 0.010), and also experienced more spontaneous abortions or premature labours ( P =0.037) than healthy relatives. Patients with HAE of both sexes more frequently reported heartburn or peptic ulcers ( P =0.002). Rheumatic complaints were reported by 53% of HAE patients and 12% of their unaffected relatives ( P =0.013), but biochemical screening for 18 autoantibodies and quantitation of immunoglobulins did not reveal statistically significant differences between the two groups. C3, prekallikrein, total kininogen, high molecular weight kininogen (HK), alpha-2-macroglobulin and factor XII were not significantly different in HAE patients. In contrast, levels of C1-INH and C4 were depressed and cleaved HK increased in patients compared to unaffected relatives.
Conclusions. HAE manifests in a variety of ways, and may influence risk of spontaneous abortions and premature labour.     

丙种球蛋白治疗危重早产儿临床分析

目的 为评估IVIG治疗危重早产儿的临床疗效。方法 将危重早产儿116例采取随机分为治疗组和对照组，对照组给常规综合治疗，治疗组在常规综合治疗措施上，加用IVIG静脉滴注，比较治疗组与对照组患儿病情平稳率及死亡率。结果 IVIG治疗危重早产儿病情平稳率第5天达75．8％第10天达93．3％，而对照组分别为50％和70．4％；病死率治疗组为6．4％，对照组为11．1％，均优于常规对照组。结论 危重早产儿用IVIG治疗疗效较满意，值得推广。     

心肌营养素-1在高血压心室重塑中的作用

目的本文利用离体结合在体实验探讨心肌营养素-1(CT-1)在高血压心室重塑中的作用。方法离体实验用160 mm Hg的高静水压刺激原代培养的心肌成纤维细胞,同时用心肌营养素-1的反义寡核苷酸进行干预。分别用MTT法检测心肌成纤维细胞的增殖,放免法检测血管紧张素Ⅱ的浓度,Western blotting检测CT-1蛋白的表达。以L-NAME诱导的一氧化氮缺乏性高血压大鼠作为在体实验模型。用卡托普利进行干预。12周后处死动物,取材观察心肌组织病理变化,检测心肌中血管紧张素Ⅱ及羟脯氨酸的浓度,同时检测心肌中CT-1的表达。结果高静水压能明显促使心肌成纤维细胞增殖,血管紧张素Ⅱ分泌增加,CT-1合成上调(光密度值1.56±0.24 vs 0.95±0.19,P<0.01),而CT-1的反义寡核苷酸能抑制高静水压诱导的细胞增殖和血管紧张素Ⅱ分泌。而进行在体实验的大鼠给予L-NAME后血压明显升高,心肌组织中血管紧张素Ⅱ和羟脯氨酸分泌增加,CT-1表达上调(光密度值1.79±0.21vs 1.02±0.12,P<0.01),经卡托普利干预后,与L-NAME组相比,血压明显下降,心肌组织中羟脯氨酸浓度降低,血管紧张素Ⅱ分泌减少,CT-1表达下调(1.12±0.15 vs 1.79±0.21,P<0.05)。结论从在体和离体实验证明CT-1在高血压心室重塑中发挥着重要的调节作用,且这一作用与肾素血管紧张素系统有关。     

腺苷预处理对人未成熟心肌缺血再灌注损伤的保护作用

目的探讨腺苷预处理对人未成熟心肌缺血再灌注损伤的保护作用及其可能机制。方法将42例5岁以下行室间隔缺损修补术的患儿随机分成腺苷组和对照组,每组21例。腺苷组在术前用腺苷预处理,对照组经相同路径滴入相同体积的生理盐水后开始转流。观察心肌肌钙蛋白-I(cTnI)、肌酸激酶同工酶(CK-MB)、心肌超微结构改变,记录和计算两组自动复跳率、T波倒置发生率、室性心律失常发生率、术后平均住院日(d)。结果腺苷预处理明显减少了cTnI、CK-MB的漏出,在心肌超微结构和心电活动方面具有良好的保护作用。结论腺苷预处理对人未成熟心肌缺血再灌注损伤具有保护作用。     

不同日龄新生小鼠视网膜血管对氧疗的敏感性

目的观察不同日龄新生小鼠对氧疗的敏感性,研究视网膜血管的发育程度与新生血管形成的关系。方法选择4、7、9、11日龄C57BL/6J新生小鼠各48只,分为高氧组和空气组,通过视网膜铺片(ADP酶染色)和视网膜切片(HE染色),定性和定量观察视网膜血管的增生情况。结果与各空气组相比,4、7、9日龄高氧组小鼠吸高氧5d,返回空气第5天时,大量新生血管形成。而11日龄高氧组小鼠在返回空气第5天未见新生血管形成。4、7、9、11日龄高氧组小鼠出氧箱第5天突破视网膜内界膜的血管内皮细胞核数目分别为25.0±3.7、47.7±5.0、18.7±2.0、2.6±1.4个,4、7、9、11日龄空气组分别为0.7±1.1、1.2±1.2、0.8±1.0、1.6±1.0个,4、7、9日龄高氧组细胞核数目明显增多,与相应的空气组比较,差异有显著性(P<0.001);11日龄高氧组细胞核数无明显增多,与11日龄空气组比较,差异无显著性。结论视网膜血管的发育程度与新生血管形成有关,视网膜血管发育越不成熟越易发生视网膜病变,而发育成熟的视网膜则不会发生视网膜病变。     

早搏联律间期缩短对血流动力学的影响

目的研究房性、室性早搏联律间期缩短与桡动脉图的关系,探讨早搏对血流动力学的影响。方法经心电图诊断为房性早搏48例及室性早搏51例,再应用心功能仪检查,通过信号处理技术对早搏桡动脉图形进行面积积分。结果①早搏桡动脉图积分面积提前率〉40%时最小,20%-40%时居中,〈20%时最大（P〈0.05）。②提前率相同情况下,左房与右房的早搏桡动脉图积分面积比较差异无统计学意义（P〉0.05）;左室与右室的早搏桡动脉图积分面积比较差异有统计学意义（P〈0.05）。③早搏时的桡动脉图积分面积最小,早搏前第一个窦性心搏居中,早搏后第一个窦性心搏最大（P〈0.05）。结论早搏对血流动力学的影响主要与早搏的联律间期长短有关,室性早搏还与其发生部位有关,早搏的代偿间歇,不能改善对血流动力学的影响。     

Outcome of intracerebral hemorrhage: clinical and CT findings in 326 patients

Clinical symptoms and findings in cranial computed tomography (CT) were evaluated in 326 patients with intracerebral hemorrhage (ICH). Localizations of ICH were the lobes (n = 254), the basal ganglia (n = 46), the pons and brain stem (n = 13) and the cerebellum (n = 8). Multiple hematomas were present in nine patients. An initial coma (n = 225) was most frequent in ICH of the pons (n = 7), cerebellum (n = 6), and the frontal (n = 71) and temporal (n = 66) lobes. Epileptic seizures (n = 70) were most common in hematomas of the frontal (n = 24), temporal (n = 19) and parietal (n = 12) lobes and the basal ganglia (n = 6). A history of hypertension was given in 140 patients; 119 of these had an ICH with a size of ≥3 cm. Mortality (n = 162) was high with ICH in the pons and brain stem (10 out of 13), in the frontal (54 out of 98) and parietal (32 out of 58) lobes and the basal ganglia (n = 23). A size of the ICH of 3 cm or more in cranial CT and an associated ventricular hemorrhage were associated with a bad outcome. An initial disturbance of consciousness was the only reliable clinical predictor of outcome (chi-square, p < 0.001). Katamnestic evaluation of 66 of the 164 survivors after 5.2 years revealed seizures in 20 patients and mild neurological deficits in 41. Another 14 patients were partially, and nine totally dependent Nineteen patients had died in between; there was only one death attributable to another ICH.     

慢性心房颤动患者心室率变化意义的探讨

目的分析探讨慢性心房颤动患者心室率变化的意义，为临如何预防心房颤动患者出现脑栓塞、心功能降低等并发症提供理论依据。方法将入院或门诊就诊病程超过1年的慢性心房颤动患者分为脑栓塞组和非脑栓塞组，各30例，观察比较两组患者临床特征，动态心电图计数比较两组患者最大心室率、平均心室率及最小心室率变化，超声心动图测定两组患者左房内径大小、左室射血分数变化，血浆凝血酶原时间凝固法测定两组患者血浆凝血酶原时间国际标准化比值（INR）变化。结果两组患者一般临床特征、左房内径大小、INR值比较。差异无统计学意义。脑栓塞组最大心室率、平均心室率及最小心室率均明显快于非脑栓塞组，左室射血分数明显低于非脑栓塞组。结论慢性心房颤动患者降低心室率对预防脑栓塞、左心功能降低有重要意义。     

单发室性早搏中RT间期规律的分析

目的探讨室性早搏前后RT间期变化的规律。方法选取单发、有完全代偿间期的室性早搏心电图,测量室早及其前后相邻波群(简称室早前、室早、室早后)的RT间期,进行对比。对室早前心室舒张时间与室早RT间期变化的关系进行分析。结果RT间期由短到长的顺序为:室早<室早前<室早后。室早前心室舒张时间与室早RT间期无线性相关关系。结论室早时RT间期最短,室早后RT间期最长,这一变化规律与心室舒张时间无关。     

KCNJ2 mutations in arrhythmia patients referred for LQT testing: A mutation T305A with novel effect on rectification properties

BACKGROUND: Loss-of-function mutations in the KCNJ2 cause approximately 50% of Andersen-Tawil Syndrome (ATS) characterized by a classic triad of periodic paralysis, ventricular arrhythmia, and dysmorphic features. Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS? OBJECTIVES: The purpose of this study was to identify and characterize mutations in the KCNJ2-encoded inward rectifier potassium channel Kir2.1 from patients referred for genetic arrhythmia testing. METHODS: Mutational analysis of KCNJ2 was performed for 541 unrelated patients. The mutations were made in wild type (WT) and expressed in COS-1 cells and voltage clamped for ion currents. RESULTS: Three novel missense mutations (R67Q, R85W, and T305A) and one known mutation (T75M) were identified in 4/249 (1.6%) patients genotype-negative for other known arrhythmia genes with overall incidence 4/541 (0.74%). They had prominent U-waves, marked ventricular ectopy, and polymorphic ventricular tachycardia but no facial/skeletal abnormalities. Periodic paralysis was present in only one case. Outward current was decreased to less than 5% of WT for all mutants expressed alone. Co-expression with WT (simulating heterozygosity) caused a marked dominant negative effect for T75M and R82W, no dominant negative effect for R67Q, and a novel selective enhancement of inward rectification for T305A. CONCLUSIONS: KCNJ2 loss of function mutations were found in approximately 1% of patients referred for genetic arrhythmia testing that lacked criteria for ATS. Characterization of three new mutations identified a novel dominant negative effect selectively reducing outward current for T305A. These results extend the range of clinical phenotype and molecular phenotype associated with KCNJ2 mutations.