先天性心脏病合并右上腔静脉缺如及永存左上腔静脉畸形的治疗

目的 探讨先天性心脏病合并右上腔静脉缺如及永存左上腔静脉畸形的治疗方法。方法 手术治疗2例，在全麻体外循环下行矫治术。1例采用左上腔静脉直接插管法，1例采用心内冠状静脉窦插管法。结果 2例均治愈，远期无心律失常发生。结论 先天性心脏病中，左上腔静脉合并右上腔静脉缺如非常少见，认识不足，是造成漏诊的主要原因。术中应根据情况酌情处理，但无论采取哪种方法，一定要注意对冠状静脉窦口的保护及左上腔静脉引流的通畅。     

Electrotonic Inhibition and Active Facilitation of Excitability in Ventricular Muscle

Inhibition and Facilitation in Cardiac Muscle. Introduction: The effects of subthreshold electrical pulses on the response to subsequent stimulation have been described previously in experimental animal studies as well as in the human heart. In addition, previous studies in cardiac Purkinje fibers have shown that diastolic excitability may decrease after activity (active inhibition) and, to a lesser extent, following subthreshold responses (electrotonic inhibition). However, such dynamic changes in excitability have not been explored in isolated ventricular muscle, and it is uncertain whether similar phenomena may play any role in the activation pal-terns associated with propagation abnormalities in the myocardium. Methods and Results: Experiments were performed in isolated sheep Purkinje fibers and papillary muscles, and in enzymatically dissociated guinea pig ventricular myocytes. In all types of preparations introduction of a conditioning subthreshold pulse between two subthreshold pulses was followed by a transient decay in excitability (electrotonic inhibition). The degree of inhibition was directly related to the amplitude and duration of the conditioning pulse and inversely related to the postconditioning interval. Yet, inhibition could be demonstrated long after (> 1 sec) the end of the conditioning pulse. Electrotonic inhibition was found at all diastolic intervals and did not depend on the presence of a previous action potential. In Purkinje fibers, conditioning action potentials led to active inhibition of subsequent responses. In contrast, in muscle cells, such action potentials had a facilitating effect (active facilitation). Electrotonic inhibition and active facilitation were observed in both sheep ventricular muscle and guinea pig ventricular myocytes. Accordingly, during repetitive stimulation with pulses of barely threshold intensity, we observed: (1) bistability (i.e., with the same stimulating parameters, stimulus: response patterns were either 1:1 or 1:0, depending on previous history), and (2) abrupt transitions between 1:1 and 1:0 (absence of intermediate wenckebach-like patterns). Simulations utilizing an ionic model of cardiac myocytes support the hypothesis that electrotonic inhibition in well-polarized ventricular muscle is the result of partial activation of I_k following subthreshold pulses. On the other hand, active facilitation may be the result of an activity-induced decrease in the conductance of I_K1. Conclusion: Diastolic excitability of well-polarized ventricular myocardium may be transiently depressed following local responses and transiently enhanced following action potentials. On the other hand, diastolic excitability decreases during quiescence. Active facilitation and electrotonic inhibition may have an important role in determining the dynamics of excitation of the myocardium in the presence of propagation abnormalities.     

Application of trans-abdominal chorionic villus sampling in prenatal diagnosis of chromosomal diseases in first trimester of gestation

Objective:To evaluate the feasibility and safety of prenatal diagnosis by traneabdominal chorionic villus sam-pling(TA-CVS)via the guidance of B-mode ultrasound in the first trimester of gestation.To explore the technique of long time culture and chromosome preparation of villi in early pregnancy.To evaluate the feasibility of the above techniques in the application of the prenatal cytogenetic diagnosis.Methods:One hundred and thirty-five singleton pregnancies at risk were referred from January 2001 to Decem-ber 2007.Results:The average maternal age was 35.2 years.TA-CVS was performed in the 10～13th weeks of gestation and the average gestational age was 10.89 weeks.All attempts at sampling were successful.The rate of operation-associated fetal loss was 0.74%.The failure rate of prenatal diagnosis because of inadequate amount of specimen was 0.The average culture time was 5-7 days.The success rate of the cell culture was 98.5%.No maternal con-temination and bacterial contamination happened.Fifteen cases of abnormal karyotype and one case of confined pla-cantel mosaiciem were diagnosed.Conclusion:TA-CVS appears to be safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The technique of long time culture and chromosome preparation of villi is stable and reliable.It is feasible to apply these techniques in the clinical practice of prenatal cytogenetic diagnose in the early pregnancy.     

山东半岛东部地区精神分裂症13号染色体的基因扫描研究

目的通过微卫星遗传标记对精神分裂症患者及对照者的13号染色体进行扫描,查找精神分裂症关联区域。方法在13号染色体上间隔约10cM(厘摩)遗传距离选择14个微卫星遗传标记,对119例精神分裂症患者与119例正常对照者组成的DNA混合样本分别进行了基因扫描及分型,经过卡方(χ2)检验统计学分析,比较患者组与对照组每个等位基因峰型比率的差异。结果在D13S265(13q31.3)位点患者组与对照组的等位基因频率差异存在显著性意义(P<0.01)。结论山东半岛东部人群中精神分裂症患者的13号染色体上存在与本病的关联位点。     

尿道发育不良性阴茎弯曲的手术矫治

目的临床研究尿道发育不良性阴茎弯曲27例的手术方式和疗效。方法皮肤切口绕过菲薄尿道,脱蜕尿道表面阴茎皮肤,切断阴茎腹侧之深浅筋膜,伸直阴茎,手术不伤及尿道。结果27例阴茎下弯得以伸直,其中1例因留置橡胶导尿管导致阴茎部尿道狭窄,经尿扩治疗2年余,排尿尚通畅。结论采取保护菲薄尿道的切口脱蜕阴茎皮肤,切断增厚的阴茎筋膜能伸直Ⅰ型弯曲的阴茎。     

冠状动脉变异的64层螺旋CT成像与诊断

目的:总结大样本病例64排螺旋CT冠状动脉成像中发现的冠状动脉变异类型及数量,为临床诊治提供依据,积累冠状动脉活体形态学资料,提高对冠状动脉变异的认识。方法:对694例受检者进行心脏冠脉成像检查,并对其图像进行回顾性分析。结果:694例受检者中,44例发现4种不同类型冠状动脉变异,占总数6.34%。其中副冠状动脉33例,RCA起源于左窦2例,LCX起源于右窦7例,左冠状动脉开口异常2例。结论:64排螺旋CT冠状动脉成像可以无创观察冠状动脉解剖及变异,为临床治疗提供依据。对冠状动脉细小分支的显示及对冠状动脉变异的认识有待提高。     

Cytogenomics of cancers: From chromosome to sequence

The role of acquired chromosomal rearrangements in oncogenesis (cytogenomics) and tumor progression is now well established. These alterations are multiple and diverse and the products of these rearranged genes play an essential role in the transformation and growth of cancer cells. The validity of this assumption is demonstrated by the development of specific inhibitors or antibodies that eliminate tumoral cells by targeting some of these changes. Imatinib, an inhibitor of the tyrosine kinase ABL, the prototype of these targeting drugs, is yielding complete remissions in most CML patients. Knowledge of chromosomal abnormalities is becoming an essential contribution to the diagnosis and prognosis of cancers but also for monitoring minimal residual disease or relapse. The concept of the “cytogenetic uniqueness” of each cancer has resulted in personalized treatment. This investigation will expound upon, besides the recurrent genomic alterations, the numerous products of perverted Darwinian selection at the cellular level.     

Fixation instability and oculomotor abnormalities in Friedreich's ataxia

Eye movements were studied in 13 patients with Friedreich's ataxia and correlated with MRI findings to investigate whether oculomotor abnormalities can be traced to cerebellar disturbances in this disease. One of the most prominent eye signs was fixation instability (square-wave jerks, SWJ.). Besides SWJ the patients showed various combinations of cerebellar, vestibular and brain-stem oculomotor signs. Our patients did not comprise a homogeneous group with regard to their oculomotor findings. There was no correlation between the severity of any of the so-called cerebellar oculomotor disturbances and the number of SWJ. We tried to correlate the extent of oculomotor disturbances with floccular atrophy and atrophy of the dorsal vermis on MRI in seven of the patients. None of the oculomotor features (including SWJ) correlated with flocculus or dorsal vermis size. Furthermore, floccular and vermal measurements on MRI were normal. Accordingly, we think it unlikely that the oculomotor disturbances, including SWJ, are attributable to cerebellar pathology per se.     

Chromosomal Mapping of Genetic Locus Associated with Thymus-size Enlargement in BUF/Mna Rats

The thymoma-prone rat of the BUF/Mna strain is a useful model for human thymoma. In this strain thymoma development is regulated by a single autosomal susceptible gene, Tsr-1. At pre-thymoma age, BUF/Mna rats have extremely large thyrauses, when compared to those of other strains of rats. Genetic studies in crosses between BUF/Mna rats with large thymuses and WKY/NCrj rats with small thymuses suggested the presence of a major autosomal gene, Ten-1 , which contributes to thymus enlargement in a backcross population. Linkage studies between Ten-1 and microsatellite markers in backcross rats of (WKY/NCrj×BUF/Mna)Fl×BUF/Mna have led to the localization of Ten-1 in chromosome 1. This result may provide an approach to clone Tsr-1 , which could be allelic to Ten-1.