缺氧预处理心肌凝集素和琥珀酸脱氢酶的电镜细胞化学

目的：探讨缺氧预处理对缺血再灌注大鼠心肌的保护作用。方法：采用SD雄性大鼠，通过生物素化凝集素-刀豆素和麦芽素分别检测缺血再灌注、缺血预处理及缺氧预处理大鼠心肌细胞膜糖基的变化和琥珀酸脱氢酶(SDH)细胞化学变化。结果：正常组刀豆素和麦芽素对大鼠心肌细胞染色强阳性，电镜下细胞结构完好，SDH酶活性高；缺血再灌注组刀豆素和麦芽素染色弱阳性，电镜下细胞结构损伤明显，SDH酶活性明显降低；缺血预处理组、缺氧预处理组刀豆素和麦芽素染色处于上述二者之间，电镜下细胞结构保护完好，SDH酶的活性没有明显降低。结论：缺氧预处理和缺血预处理对缺血再灌注大鼠心肌有相似的保护作用。     

川芎嗪对缺血再灌注损伤心肌重要呼吸酶的影响

目的:观察川芎嗪对大鼠缺血再灌注损伤心肌线粒体中琥珀酸脱氢酶(SDH)和细胞色素氧化酶(CCO)的影响及可能机制。方法:结扎冠状动脉30 min后再灌20 min,复制缺血再灌注模型。测定心肌线粒体中SDH、CCO、SOD和GSH·PX活力及MDA和细胞色素含量。结果:缺血再灌组(IR)SDH和CCO活力显著低于假手术对照组;缺血再灌加川芎嗪组(IR+L)的SDH和CCO活力显著高于缺血再灌组(P＜0.01),MDA含量明显降低,SOD及GSH·PX活力也明显升高。结论:川芎嗪对缺血再灌注损伤心肌中SDH和CCO活力降低有显著的拮抗作用,其机理可能是通过提高对氧自由基的清除及抑制脂质过氧化     

生长激素对大鼠阿霉素性心肌病心肌细胞凋亡的影响

目的探讨生长激素（Growth hormone，GH）对大鼠阿霉素（Adriamycin，ADR）心肌病心肌细胞凋亡及其相关基因蛋白BCL-2、BAX表达的影响。方法30只雄性Wistar大鼠，体重200—250g，随机分为3组：对照组、ADR组和GH＋ADR组。用原位末端标记法（TUNEL）标记凋亡的心肌细胞，用免疫组织化学方法检测BAX和BCL-2的蛋白表达。结果与对照组比较，ADR组心肌细胞凋亡指数明显升高（P〈0．05），GH＋ADR组细胞凋亡指数低于ADR组（P〈0．05）。ADR组BAX蛋白表达明显高于对照组（P〈0．05），BCL-2蛋白表达明显低于对照组（P〈0．05）。GH＋ADR组BAX的蛋白表达明显低于ADR组（P〈0．05），但高于对照组（P〈0．05）；BCL-2的蛋白表达明显高于ADR组（P〈0．05），接近对照组。结论心肌细胞凋亡是导致阿霉素心肌病的主要原因，GH干预治疗可减少阿霉素心肌病的心肌细胞凋亡，这可能与GH能提高BCL-2/BAX比值有关。     

红细胞生成素对大鼠阿霉素性心肌病的预防

目的 探讨红细胞生成素(EPO)对阿霉素(DOX)性心肌病的预防性保护作用及可能机制.方法 31只Wistar大鼠随机分为DOX组(12只)、DOX+EPO组(11只)和对照组(8只),前2组采用腹腔注射DOX建立扩张型心肌病模型,并在腹腔注射DOX前分别予生理盐水或EPO预防性干预.测量3组大鼠血流动力学以了解左室收缩功能变化;Masson氏染色法观察心脏组织病理学变化;TUNEL法分析心肌细胞的凋亡;Western印迹法检测Bax和Bcl-2的蛋白表达.结果 DOX组和DOX+EPO组左室收缩功能差异有统计学意义(P<0.05),DOX+EPO组的心肌纤维化面积比率(7.49±1.11)%明显比DOX组(12.14±1.07)%降低(P<0.05).DOX组和DOX+EPO组凋亡指数分别为(0.93±0.08)%和(0.16+0.04)%(P<0.05).Western印迹显示,DOX组中Bcl-2蛋白表达水平低于对照组,DOX+EPO组Bcl-2的表达水平明显高于DOX组,差异均有统计学意义(P<0.05).结论 EPO可能通过上调Bcl-2蛋白表达发挥抗凋亡作用,从而对阿霉素性心肌病发挥预防性保护作用.     

红细胞生成素对大鼠阿霉素性心肌病的预防

目的 探讨红细胞生成素（EPO）对阿霉素（DOX）性心肌病的预防性保护作用及可能机制.方法 31只Wistar大鼠随机分为DOX组（12只）、DOX＋EPO组（11只）和对照组（8只）,前2组采用腹腔注射DOX建立扩张型心肌病模型,并在腹腔注射DOX前分别予生理盐水或EPO预防性干预.测量3组大鼠血流动力学以了解左室收缩功能变化;Masson氏染色法观察心脏组织病理学变化;TUNEL法分析心肌细胞的凋亡;Western印迹法检测Bax和Bcl-2的蛋白表达.结果 DOX组和DOX＋EPO组左室收缩功能差异有统计学意义（P〈0.05）,DOX＋EPO组的心肌纤维化面积比率（7.49±1.11）%明显比DOX组（12.14±1.07）%降低（P〈0.05）.DOX组和DOX＋EPO组凋亡指数分别为（0.93±0.08）%和（0.16＋0.04）%（P〈0.05）.Western印迹显示,DOX组中Bcl-2蛋白表达水平低于对照组,DOX＋EPO组Bcl-2的表达水平明显高于DOX组,差异均有统计学意义（P〈0.05）.结论 EPO可能通过上调Bcl-2蛋白表达发挥抗凋亡作用,从而对阿霉素性心肌病发挥预防性保护作用.     

红细胞生成素对大鼠阿霉素性心肌病的预防

Objective To investigate the preventive effect and potential mechanisms of erythropoietin (EPO) against doxorubicin (DOX)-induced cardiomyopathy. Methods Thirty-one Wistar rats were randomly divided into DOX group (n=12) , DOX + EPO group (n=11) and control group (n=8). Dilated cardiomyopathy was induced by intraperitoneal injection of DOX for both DOX group and DOX+EPO group, and normal saline or EPO was administered before DOX injection for preventive purpose. Left ventricular systolic function was evaluated by invasive haemodynamic measurements among three groups. Rats were then sacrificed for Masson-stained histopathology observation and terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) analysis of apoptosis, with immunological detection for Bax and Bcl-2 by Western blotting. Results There was significant difference in left ventricular systolic function between DOX group and DOX+EPO group. The area ratio of myocardial fibrosis was significantly decreased from (12.14±1.07)% in the DOX group to (7.49±1.11)% in the DOX+EPO group (P<0.05). The apoptotic index was (0.93±0.08)% and (0.16±0.04)% in the DOX group and DOX + EPO group (P<0.05) , respectively. Western blotting showed that Bcl-2 protein expression was decreased in DOX group compared to control group, but significantly increased in the DOX + EPO group compared to DOX group (P<0.05). Conclusions EPO can protect against DOX-induced cardiomyopathy via anti-apoptotic pathways. The up-regulation of Bcl-2 protein expression may contribute to the protection.     

硫化氢供体对阿霉素心肌病大鼠心肌结构及心功能的影响

目的探讨给予外源性硫化氢(H2S)供体硫氢化钠(NaHS)对阿霉素(ADR)心肌病大鼠心功能及心肌结构的影响及其作用机制。方法雄性Wistar大鼠54只,随机分5组(1)ADR组;(2)ADR 小剂量NaHS组;(3)ADR 大剂量NaHS组;(4)对照组;(5)NaHS组。药物均腹腔注射,连续用药10周,检测心功能和血流动力学指标,于光镜及电镜下观察显微及超微结构,并测定其血浆及心肌组织中H2S含量。结果阿霉素组大鼠心功能较对照组明显降低(P<0.01),心肌组织呈心肌病样改变,且血浆及心肌组织中H2S含量均明显低于对照组(P<0.001)。经补充外源性H2S供体NaHS后,大鼠心功能较前明显改善,心肌组织病理损害程度明显减轻。结论H2S参与了大鼠阿霉素心肌病的发病过程,补充外源性H2S可以改善阿霉素心肌病大鼠心功能,减轻心肌损伤。     

高脂血症小鼠脑缺血再灌注后脑组织线粒体功能降低

脑缺血再灌注(ischemia reperfusion,IR)损伤与细胞能量代谢障碍密切相关,细胞内线粒体酶是保证细胞产生ATP的重要因素。线粒体酶活性下降可直接干扰细胞呼吸链的电子传递,阻碍三羧酸循环的进程,影响细胞能量代谢。本实验观察了高脂血症小鼠脑IR后30 d内不同时期脑海马组织琥珀酸脱氢酶(SDH)和细胞色素氧化酶(CCO)活力以及线粒体ATP合成速率的变化,旨在探讨能量代谢障碍在脑IR损伤中所起的作用。1材料与方法1·1仪器和试剂:日本产UV-120-C2型分光光度计,美国产Waters-840型高效液相色谱仪。SDH、CCO活力测定试剂盒、ATP生成速…     

大鼠心肌线粒体细胞色素氧化酶琥珀酸脱氢酶的超微结构定位

一、琥珀酸脱氢酶(SDH)超微结构技术的改进:合理筛选固定时间及固定剂浓度;组织在基质中孵育后再经DAB处理,对不同时间孵育后的组织作动态性观察。二、细胞色素氧化酶(CCO):选择合适的固定剂种类,固定时间及固定剂浓度;筛选最适孵育时间;低温脱水。     

天保宁对阿霉素所致大鼠心肌线粒体毒性的保护作用

应用电镜细胞化学方法，从心肌细胞超微结构和细胞素Ｃ氧化酶的改变方面，观察了天保宁对阿霉素所致心肌细胞线粒体损伤的保护作，霉素造成的大鼠心肌细胞肌原纤维排列紊乱，线粒体肿胀，嵴断裂及细胞色素Ｃ氧化酶活性降低，可明显地被抗氧天保宁所防止，说明天保宁能够清除阿霉素所产生的有害自由基，对心肌细胞起保护作用。     

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

COA6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present a new pathogenic COA6 variant detected in a patient with neonatal hypertrophic cardiomyopathy and isolated complex IV deficiency. For the first time, clinical details about a COA6‐deficient patient are given and patient fibroblasts are functionally characterized: COA6 protein is undetectable and steady‐state levels of complex IV and several of its subunits are reduced. The monomeric COX1 assembly intermediate accumulates. Using pulse‐chase experiments, we demonstrate an increased turnover of mitochondrial encoded complex IV subunits. Although monomeric complex IV is decreased in patient fibroblasts, the CI/CIII₂/CIV_n‐supercomplexes remain unaffected. Copper supplementation shows a partial rescue of complex IV deficiency in patient fibroblasts. We conclude that COA6 is required for complex IV subunit stability. Furthermore, the proposed role in the copper delivery pathway to complex IV subunits is substantiated and a therapeutic lead for COA6‐deficient patients is provided.     

人外周血淋巴细胞酶活性光镜细胞化学定位

目的　探讨人外周血淋巴细胞酶结构定位与活性。方法　应用光镜酶细胞化学方法对人外周血淋巴细胞ATP酶与G 6 P酶进行酶的定位与活性分析。结果　ATP酶阳性反应颗粒清晰 ,见于淋巴细胞膜内侧 ,G 6 P酶阳性反应颗粒见于淋巴细胞胞质内。结论　二种酶存在于人淋巴细胞内。     

骨髓间充质干细胞静脉移植对扩张型心肌病大鼠毛细血管生成的影响

目的观察骨髓间充质干细胞（MSCs）经静脉途径移植对阿霉素诱导的扩张型心肌病（DCM）大鼠心功能的影响。方法建立大鼠阿霉素性心肌病模型,随机分为三组：DCM空白组（B组）、静脉移植组（C组）和静脉对照组（D组）,另设正常对照组（A组）。经尾静脉注射在体外扩增并DAPI标记的骨髓间充质干细胞和培养基至C组和D组大鼠,A组和B组大鼠不干预。移植后8周心脏彩超观察左室舒张末径（LVDD）、左室射血分数（LVEF）,多导生理记录仪观察左室最大压力上升速率（＋LVdp/dtmax）、左室最大压力下降速率（-LVdp/dtmax）,并分析组织病理学特征。结果细胞移植后8周,C组LVEF高于B组和D组;LVDD稍低于B组和D组;＋LVdp/dtmax明显高于B组,也显著高于D组;-LVdp/dtmax明显高于B组和D组;C组心肌中可见带有蓝色荧光的DAPI标记的骨髓MSCs,心肌胶原容积百分比低于B组和D组,毛细血管计数高于B组和D组;C组VEGF水平明显高于B组和D组。结论骨髓MSCs静脉移植治疗阿霉素诱导的扩张型心肌病大鼠,提高VEGF水平,促进心肌毛细血管新生,减少胶原纤维,改善心功能。     

Cytochemical study of spermiogenesis and mature spermatozoa in the lizard Tropidurus itambere (Reptilia, Squamata)

The present study was undertaken to detect essential components of spermatozoa by ultrastructural and cytochemical analyses of testis and epididymis of the lizard Tropidurus itambere at different points of its annual reproductive cycle. Cytochemical investigations of spermiogenesis have not been performed so far in Squamata and are scarce for lower vertebrates. Essential components are: 1) polysaccharides, identified by PAS staining, abundantly present in Sertoli cell elongations, acrosomal vesicles and the acrosome of sperm cells; 2) glycoconjugate variations, labeled by different lectins and used to investigate cell modifications during spermiogenesis and found in mature spermatozoa in the female's seminal receptacle; 3) basic proteins, present in large quantities in spermatozoa in the subacrosomal cone, the pericentriolar material, the midpiece dense bodies, the peripheral fibers of the axoneme, and the fibrous sheath of the flagellum; 4) the final reaction product of acid phosphatase activity in several stages of acrosome development, specifically in the clear zone and epinuclear electron-lucent region of spermatozoal acrosomes, as well as in very active lysosomes found during the quiescent period of the reproductive cycle; 5) lipids, abundantly present in the cytoplasm of Leydig cells during the quiescent period. The cytochemical methods show that the ultrastructurally complex acrosome is also biochemically heterogeneous, with specific layers rich in glycoproteins, basic proteins or acid phosphatase. These different components may play a role during sperm penetration into the ovule. Basic proteins are largely responsible for structures surrounding the axoneme to provide resistance to the flagellum. In the quiescent period, acid phosphatase activity is involved in the elimination of superfluous sperm cells, whereas lipids in Leydig cells are used for hormone synthesis which starts at this time point to initiate a new reproductive cycle. Variations in lectin staining revealing glycoconjugates show that spermatozoa undergo post-testicular maturation up to their storage in the female.     

Ultrastructural Criteria of Cardiomyocyte Regeneratory and Plastic Insufficiency in Anthracycline Cardiomyopathy

We analyzed the dynamics of ultrastructural changes in cardiomyocytes in experimental chronic anthracycline cardiomyopathy. Doxorubicin-induced changes in cardiomyocytes were characterized by a specific combination of ultrastructural changes, which can be regarded as markers of the development of regeneratory and plastic insufficiency. These markers include a triad of changes: deformation of the nuclei with reorganization of the nucleolar system; diffuse and small focal lysis of myofibrils (mainly fine filaments); dilatation of agranular sarcoplasmic reticulum and the intermembrane perinuclear space connected to it. The terminal stages of these disorders are degeneration of some cardiomyocytes, their apoptotic death, and resorption by mononuclear cells (processes representing successive stages in the development of regeneratory and plastic insufficiency of the myocardium).__________Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 139, No. 4, pp. 470–475, April, 2005     

Histochemical mapping of succinic dehydrogenase and cytochrome oxidase in the spinal cord, medulla oblongata and cerebellum of squirrel monkey (Saimiri sciureus)

Summary The distribution of succinic dehydrogenase (SDA) and cytochrome oxidase (Cy. O) in serial sections of the cervical region of the spinal cord and the medulla oblongata, arranged caudo-cranially, has been described. The motor cranial nerve nuclei exhibit strong SDA and Cy. O activity in the neurons and neuropil. The nuclei gracilis, cuneatus, olivaris inferior, cochlearis and vestibularis likewise show strong enzyme activity. Nucleus intercalatus and nucleus tractus solitarius, however, show weak and moderate enzyme activity respectively. The lateral part of formatio reticularis myelencephali shows less SDA and Cy. O compared to the medial part, which shows some accumulation of these enzymes in the neuropil.The neuropil of the molecular layer of cerebellar cortex and the perikarya and dendrites of the Purkinje cells show strong SDA and Cy. O activity. The granular layer exhibits stronger SDA and Cy. O in the synaptic glomeruli. The cerebellar nuclei possess stronger enzyme activity in the neurons and dendritic branches, compared to mild activity in the neuropil.Abbreviations AB Nucleus ambiguus - AP Area postrema - Cb Cerebellum - Cn Nucleus cuneatus medialis - CnL Nucleus euneatus lateralis - CRF Corpus restiforme - D Cell group D of meesen and Olszewski (1949) - DPy Decussatio pyramidum - DV Nucleus dorsalis n. vagi - F Cell group P of Meesen and Olszewski (1949) - FC Puniculus cuneatus - FG Funiculus gracilis - FLM Fasciculus longitudinalis medialis - FRM Formatio reticularis myelencephali - G Nucleus gracilis - Gr Granular layer of cerebellar cortex - I Nucleus intercalatus - Lcb Lingula cerebelli - MoL Molecular layer of cerebellar cortex - NC Nucleus cochlearis - NCD Nucleus cochlearis dorsalis - NCV Nucleus cochlearis ventralis - ND Nucleus dentatus - NE Nucleus emboliformis - NF Nucleus fastigii - NFL Nerve fiber layer - NG Nucleus globosus - NR Nucleus raphes - NSV Nucleus tractus spinalis n. trigemini - NTS Nucleus tractus solitarius - NVI Nucleus n. abducentis - NVII Nucleus n. facialis - NXII Nucleus n. hypoglossi - OI Nucleus olivaris inferior - OIm Nucleus olivaris inferior, accessorius medialis - OIp Nucleus olivaris inferior, principalis - P Layer of Purkinje cells - Pp Nucleus praepositus - Py Tractus pyramidalis - RG Nucleus reticularis gigantocellularis - RL Nucleus reticularis lateralis myelencephali - RPM Nucleus reticularis paramedianus myelencephali - SGD Nucleus substantiae griseae dorsalis - SGL Nucleus substantiae griseae lateralis - SGV Nucleus substantiae griseae ventralis - TCV Tractus corticospinalis ventralis - TS Tractus solitarius - TSC Tractus spinocerebellaris - VI Nucleus vestibularis inferior - VL Nucleus vestibularis lateralis - VM Nucleus vestibularis medialis - VS Nucleus vestibularis superior - IV Ventriculus quartus     

AchE显示毛细血管活性的光、电镜研究

我们对传统的ＡｃｈＥ细胞化学染色方法做了改进，在毛细血管内皮细胞的核膜、细胞膜、粗面内质网及红细胞中清晰地显示了ＡｃｈＥ，是研究毛细血管的有效方法     

Histochemical mapping of succinic dehydrogenase and cytochrome oxidase in the pons and mesencephalon of squirrel monkey (Saimiri sciureus)

Summary The distribution of succinic dehydrogenase (SDA) and cytochrome oxidase (Cy. O) has been investigated in a series of sections through the pons and mesencephalon of the squirrel monkey brain. The localization of the two enzymes is very similar in the various regions and shows only slight differences. The epiphysis, however, shows moderately strong SDA and very mild Cy. O activity. Particularly strong SDA and Cy. O activity has been observed in the cell bodies of the various cranial nerve nuclei, nucleus colliculi inferioris, colliculi superioris, nuclei griseum pontis, reticularis tegmenti pontis, lemnisci lateralis pars dorsalis, geniculatum laterale and mediale, and pulvinaris. The enzyme content of the neurons and cell bodies is generally stronger compared to the neuropil which often occurs in smooth, loose, compact and reticulated forms. Any special relationship between the neurons and neuropil with regard to their enzyme content has, however, not been observed. The cranial nerves, and fibers of the brachium conjunctivum, corpus callosum, and fornix show very mild enzyme activity except those of the trapezoid complex which show moderate enzyme activity.Abbreviations Ann Nucleus annularis - APT Area praetectalis - AS Aquaeductus Sylvii - BC Brachium conjunctivum - BCI Brachium colliculi inferioris - BCS Brachium colliouli superioris - BP Brachium pontis - Cb Cerebellum - CC Corpus callosum - CCI Commissura colliculi inferioris - CCS Commissura colliculi superioris - Cd Nucleus caudatus - CHD Commissura hippocampi —parsdorsalis - CoI Colliculus inferior - CoP Commissura posterior - CoR Corona radiata - CoS Colliculus superior - CPf Cortex piriformis - CR Cortex retrosplenialis - DBC Decussatio brachii conjunctivi - DG Nucleus dorsalis tegmentalis(Gudden) - DR Nucleus dorsalis raphes - EP Epiphysis - F Fornix - FH Fimbria hippocampi - FLM Fasciculus longitudinalis medialis - FRPC Formatio reticularis pontis, parscaudalis - FRPO Formatio reticularis pontis, parsoralis - FRTM Formatio reticularis tegmentimesencephali - GC Substantia grisea centralis - GCd Substantia grisea centralis, parsdorsalis - GCv Substantia grisea centralis, parsventralis - GL Corpus geniculatum laterale - GM Corpus geniculatum mediate - GPO Griseum pontis - Hipp Hippocampus - HL Nucleus habenulae lateralis - HM Nucleus habenulae medialis - IP Nucleus interpeduncularis - LC Nucleus locus coeruleus - LCb Lingula cerebelli - Lim Nucleus limitans thalami - LL Lemniscus lateralis - LLD Nucleus lemnisci lateralis —parsdorsalis - LM Lemniscus medialis - LP Nucleus lateralis posterior thalami - MD Nucleus medialis dorsalis thalami - Mv Nucleus motorius n. trigemini - NCI Nucleus colliculi inferioris - NCS Nucleus centralis superior tegmenti - NCT Nucleus trapezoideum - NMv Nucleus tractus mesencephalicus n.trigemini - NR Nucleus ruber - NST Nucleus supratrochlearis - NSv Nucleus tractus spinalis n. trigemini - NiiiC Nucleus centralis n. oculomotorii - NiiiD Nucleus n. oculomotorii — pars dor-salis - NiiiV Nucleus n. oculomotorii — pars ven-tralis - Niv Nucleus n. troehlearis - nvm Nervus trigeminus, portio major - niv Nervus trochlearis - nvi Nervus abducens - OS Nucleus olivaris superior - P Nucleus posterior thalami - PbL Nucleus parabrachialis lateralis - PbM Nucleus parabrachialis medialis - PC Pedunculus cerebri - Pg Nucleus parabigeminalis - PUI Nucleus pulvinaris inferior thalami - PUL Nucleus pulvinaris lateralis thalami - PUM Nucleus pulvinaris medialis thalami - Py Tractus pyramidalis - Pv Nucleus principalis n. trigemini - R Nucleus reticularis thalami - RTP Nucleus reticularis tegmenti pontis - SNc Substantia nigra — pars compacta - SNd Substantia nigra — pars diffusa - Sub Subiculum - TCT Tractus corticotectalis - VR Nucleus ventralis raphes - III Ventriculus tertius - IV Ventriculus quartus     

一个琥珀酸半醛脱氢酶缺陷病家系ALDH5A1基因突变分析

目的 对1例临床怀疑且经尿筛查诊断为琥珀酸半醛脱氢酶缺陷病的患儿及家系进行ALDH5A1基因突变分析,以进一步明确诊断和辅助遗传咨询.方法 应用聚合酶链反应及DNA直接测序技术对1例琥珀酸半醛脱氢酶缺陷病患儿及其父母的ALDH5A1基因进行突变位点检测,同时检测100名健康对照者的ALDH5A1基因以排除多态性变异.结果 患儿携带有ALDH5A1基因编码区序列第3外显子c.527G＞A(p.Gly176Glu)和第4外显子c.691G＞A(p.Glu231Lys)两种杂合突变,其母亲为c.527G＞A杂合突变携带者,父亲为c.691G＞A杂合突变携带者.另外患儿还存在两种已报道的核酸多态性改变:c.545C＞T杂合突变和c.538C＞T纯合突变.患儿的c.545C＞T突变来源于父亲,c.538C＞T突变分别来源于父母.100名健康对照者中未检测到c.527G＞A和c.691G＞A突变.结论 c.527G＞A(p.Gly176Glu)和c.691G＞A(p.Glu231 Lys)错义突变可能是该患儿的致病突变.     

扩张型心肌病细胞因子及糖皮质激素受体的研究

检测 30例扩张型心肌病 (DCM )外周血白细胞介素 1(IL 1)、白细胞介素 6 (IL 6 )及肿瘤坏死因子 (TNF α )的水平 ,并同时测定白细胞糖皮质激素受体 (GR )的水平 ,结果发现DCM患者的IL 1、IL 6及TNF α明显高于对照组 (P <0 0 1) ,而GR明显低于对照组 (P <0 0 1) ,表明DCM存在细胞因子及GR异常 ,并对其意义进行了分析。