Phenotypic heterogeneity associated with defective apolipoprotein B-100 and occurrence of the familial hypercholesterolemia phenotype in the absence of an LDL-receptor defect within a Canadian kindred

Of 163 individuals with a diagnosis of heterozygous familial hypercholesterolemia (FH), only one subject was found to be positive for familial defective apo B-100 (FDB). The eight-member kindred ascertained through this subject who presented with both a clinical phenotype of FH and the FDB apo B-100 (Arg₃₅₀₀→-Gln) mutation was studied. Plasma lipid and lipoprotein profiles, apo E phenotypes, apo B gene markers at the 3′ hypervariable region and LDL-receptor haplotypes (ApaLI, PvuII, NcoI), were determined, together with LDL-receptor activity on freshly isolated blood lymphocytes. The FDB mutation, present in four relatives, was associated with three different phenotypes: FH and severe hypercholesterolemia, moderate hypercholesterolemia and normolipidemia. The FH phenotype occurred in the absence of any functional LDL-receptor defect. In homozygotes for the absence of the PvuII cutting site who had the apo B mutation, LDL-cholesterol levels were low in the presence of the apo E3/2 phenotype and high in the presence of the apo E4/4 phenotype. None of the major known environmental influences accounted for the wide range of variation in LDL-cholesterol among the affected members. Further observations in the spouse and offspring of the normolipidemic FDB subject confirmed the association of apo E4, the FDB mutation and the PvuH(-/-) genotype with high cholesterol levels. It is concluded that the phenotypic expression of the FDB mutation may vary widely as a function of the genetic environment within a family. The presence of phenotypic heterogeneity among individuals with the same apo B mutation may result from epistatic interaction of the apo B locus with genetic factors regulating cholesterol homeostasis, including possible involvement of the apo E and the LDL-receptor gene loci. This study also confirms that the clinical diagnosis of FH is not necessarily associated with an LDL-receptor defect.     

用化学计量法研究CO2—n—C7H16系的高压相平衡

测定了在温度３１０．６５Ｋ、３２３．１５Ｋ和压力３．１３～７．５４ＭＰａ条件下的气液平衡数据，实验结果与文献值具有较好的一致性。用ＴＲＫ状态方程对实验所得数据进行关联，取得了较满意的结果。     

贲门失弛缓症术式探讨

目的 探讨治疗贲门失弛缓症的理想术式。方法 回顾分析66例贲门失弛缓症患者的治疗效果，评估手术方式与其疗效的关系。结果 单纯Heller肌层切开术15例，Heller手术附加Belsey MarkⅣ底折叠术17例，自行设计的改良Heller手术附加胃底折叠术34例。全组随访3年以上，失访3例按无效计算，疗效优，良者占91．2％（60／66）／单纯Heller手术病例术后复发3例（3／15，20．0％），发生反流性食管炎4例（4／15，26．7％）;Heller手术附加Belsey MarkⅣ底折叠发生反流性食管炎2例（2／17，11．8％），膈裂孔疝1例（1／17，5．9％），而改良Heller手术附加胃底折叠术无复发及反流。全组无手术死亡及其他并发症。结论 改良式Heller手术加胃底折叠术式治疗贲门失弛缓症疗效较好。     

微粒皮肤移植治疗特大面积烧伤：附7例报告

报告应用微粒皮肤移植技术抢救成功７例特大面积烧伤病人。文中介绍了手术方法、注意事项，指出了本术式的优缺点，并对该领域国内外的发展状况，作了简单叙述。     

缺指(趾)综合征

本文报告—缺指(趾)综合征之家族。在4代62人中手足畸形者20人,对3代7人拍照了双手足正位X线片,发现足部2-4跖趾均缺如,1、5跖趾呈现跖外翻,趾内曲。外形酷似龙虾爪样。手部1-3指大多数病人缺如。也有2、3指并指畸形或指骨分叉畸形。全身其他骨关节正常,智力发育良好。本文讨论了该病的命名、分类和有关鉴别诊断。     

Activated neutrophils aggravate endothelial dysfunction after reperfusion of the ischemic feline myocardium.

Endothelial dysfunction, as evidenced by decreased stimulated release of endothelium-derived relaxing factor (EDRF), occurs after reperfusion of the ischemic myocardium. To better understand this endothelial dysfunction, isolated cat hearts were perfused under constant flow by the Langendorff procedure with Krebs-Henseleit solution devoid of blood cells. Following global ischemia (90 minutes) and reperfusion (20 minutes), coronary vasorelaxation to the endothelium-dependent vasodilator acetylcholine (ACh) was 70 +/- 3% of initial values (p less than 0.01) compared with 90 +/- 4% in nonischemic control perfused hearts. No decrement occurred in response to the endothelium-independent vasodilator nitroglycerin (NTG). Coronary artery rings isolated from the ischemic left circumflex coronary artery showed a similar degree of endothelial dysfunction to ACh, with normal relaxation in response to NaNO2. Autologous cat neutrophils (100 million cells), activated with 100 nmol/L f-met-leu-phe infused into the heart directly before and throughout reperfusion, resulted in a further decrement in ACh-induced vasodilation, to 55 +/- 5% of initial response, with no effect on NTG-induced vasodilation. Similar results were obtained with coronary artery rings isolated from perfused cat hearts and exposed to neutrophils. This neutrophil-enhanced endothelial dysfunction was inhibited by human superoxide dismutase as well as by an antibody to the adherence glycoprotein complex CD-18 (i.e., MAbR 15.7). Therefore endothelial dysfunction occurs initially upon reperfusion of the previously ischemic heart and is aggravated by superoxide radicals produced by activated neutrophils.     

B90催化剂上丁烯氧化脱氢的反应动力学─一一种简便的建立化学动力学方程的方法

采用简便的建立化学反应动力学方程的方法，研究了Ｂ９０催化剂上丁烯氧化脱氢制丁二烯反应的动力学，即先在一较低温度下，用微分法拟合得到化学反应动力学方程中的浓度项，然后改变反应温度，求算不同温度下的反应速率常数。采用这个简便方法，只需较少的实验，即可求得该反应体系中的丁烯转化速率方程式。     

头皮缺损颅骨外露的修复

我科1980～1991年收治外伤性或颅面部肿瘤切除后头皮缺损颅骨外露9例,分别应用吻合血管的游离大网膜结合中厚皮片移植、游离皮瓣或轴型皮瓣转位结合皮片移植修复。讨论了修复时机、修复方法以及手术注意事项。认为双侧股前外侧游离皮瓣是修复全头皮缺损颅骨外露的可取方法,而吻合血管的游离大网膜移植修复颅骨外露的方法应尽量避免。     

小剂量γ线照射及合并噪声暴露对豚鼠外周血NK细胞活性的影响

实验研究了小剂量γ线照射及合并噪声暴露对脉鼠外周血ＮＫ细胞活性的影响。结果表明，单纯γ线照射和单纯噪声暴露组动物外周血ＮＫ细胞活性较对照组部有一定程度的增高，其中尤以后者为明显。但噪声暴露对γ线照射引起的ＮＫ细胞活性无明显影响；而γ线照射对噪声暴露引起的ＮＫ细胞活性却表现有一定的拮抗作用，其机理有待探讨。     

Correlation between Cyclin A Gene Expression in Adult Patients with Acute Leukemia and Drug Resistance

Adultacuteleukemia (AL)isoneofthemostcommonmalignanttumorsofhematology .Withtherecentprogressinchemotherapyandsupportivether apy ,theremissionandsurvivalrateinALhavebeenmarkedlyimproved .However ,drugresistanceandrelapsearestillimportantfactorsaffectinglongsur vivalofthese patients .Theabnormalregulationofcellcycleisanotherfactorthatcannotbeignoredex ceptformultipledrugresistance (MDR) .WedetectcyclinA ,multidrugresistantgene (mdrl) ,topoiso meraseⅡα(TopⅡα)andbcl 2inadultpatientswithA…