Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature,primary amenorrhea,unilateral gonadoblastoma,and a 46,X,del(Y)(q11)/45,X karyotype

Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule. These males usually have severe mental retardation and may have spastic paraplegia and adducted thumbs. In contrast, Hirschsprung disease, or absence of ganglion cells in the distal gut, has rarely been described in such individuals. We report a male infant who had severe hydrocephalus identified in the prenatal period with evidence of aqueductal stenosis and adducted thumbs at birth. He developed chronic constipation, and rectal biopsy confirmed the diagnosis of Hirschsprung disease. Molecular testing of the L1CAM gene revealed a G2254A mutation, resulting in a V752M amino acid substitution. A common polymorphism in RET, but no mutation, was identified. Our patient represents the third example of coincident hydrocephalus and Hirschsprung disease in an individual with an identified L1CAM mutation. We hypothesize that L1CAM‐mediated cell adhesion may be important for the ability of ganglion cell precursors to populate the gut, and that L1CAM may modify the effects of a Hirschsprung disease–associated gene to cause intestinal aganglionosis. © 2002 Wiley‐Liss, Inc.     

The assembly of the factor X-activating complex on activated human platelets

Summary.  Platelet membranes provide procoagulant surfaces for the assembly and expression of the factor X-activating complex and promote the proteolytic activation and assembly of the prothrombinase complex resulting in normal hemostasis. Recent studies from our laboratory and others indicate that platelets possess specific, high-affinity, saturable, receptors for factors XI, XIa, IX, IXa, X, VIII, VIIIa, V, Va and Xa, prothrombin, and thrombin. Studies described in this review support the hypothesis that the factor X-activating complex on the platelet surface consists of three receptors (for the enzyme, factor IXa; the substrate, factor X; and the cofactor, factor VIIIa), the colocalization of which results in a 24 million-fold acceleration of the rate of factor X activation. Whether the procoagulant surface of platelets is defined exclusively by procoagulant phospholipids, or whether specific protein receptors exist for the coagulant factors and proteases, is currently unresolved. The interaction between coagulation proteins and platelets is critical to the maintenance of normal hemostasis and is pathogenetically important in human disease.     

肺血管流动参数的CT相关测量研究

目的：探讨活体肺血管分支几何学和流动状态参数的特征。方法：在63例正常人胸部螺旋CT图像上测量20l0套两分支的血管横径，计算Z值和雷诺数，分析并判断不同横径血管内血液的流动状态。结果：Z值与标本数据比较有显著不同；雷诺数随血管横径的增大而增大，但不超过l000。结论：2—4mm的正常肺小血管内雷诺数＜l000，流动为层流。     

螺旋CT对胃癌Lauren''s分型诊断价值的研究

目的探讨螺旋CT(SCT)对胃癌Lauren's分型的诊断价值. 资料与方法对40例进展期胃癌患者行SCT平扫及三期动态增强扫描.40例均于检查后1周内施行全胃或部分胃切除手术、剖腹探查术.术后标本行常规石蜡包埋及5μm切片. 结果胃壁低密度层增厚程度在肠型胃癌和弥漫型胃癌分别为1.55mm±0.55mm和7.71mm±2.33mm;强化程度在肠型胃癌和弥漫型胃癌分别为51.98HU±9.35HU和87.95HU±18.79HU,两组比较,差异均具有统计学意义(P＜0.05,P＜0.05). 结论 SCT对胃癌Lauren's分型有一定价值.     

肺癌侵犯中央肺动脉继发肺低灌注的CT与DSA对照研究

目的　探讨肺癌侵犯中央肺动脉继发肺低灌注的CT特征及其诊断价值。方法　对2 0例手术及病理证实的肺癌侵犯中央肺动脉 (cancerousinvasionofcentralpulmonaryarteriesinlungcancer,CICPA)患者术前肺血管DSA及增强螺旋CT(含高分辨率CT ,即HRCT)征象行前瞻性对照研究。根据DSA和CT胸膜下末梢肺动脉分布和数量变化 ,即肺血管征、肺毛细血管充盈度和肺实质强化后密度及时间 密度曲线变化 (即肺实质征 ) ,行两者间的盲法对照 ,统计学分析CT与DSA征象及其一致性 ,评估CT对CICPA继发肺低灌注的诊断价值。结果　 2 0例手术病理证实的CICPA病例中 ,共3 0支肺叶动脉受累 ,DSA显示 90 % (2 7/3 0 )出现肺叶低灌注征象 ,CT诊断肺低灌注敏感度为 78%(2 1/2 7) ,特异度 10 0 % (3 /3 ) ,准确度 80 % (2 4/3 0 )。肺低灌注与CPA狭窄程度无明显相关性 (rs=0 40 ,P =0 0 73 )。CT与DSA的肺血管征一致性较好 (Kappa =0 69,P <0 0 0 1) ,而肺实质征一致性稍差 (Kappa =0 3 7,P =0 0 11)。结论　肺低灌注是肺癌侵犯中央肺动脉的常见表现 ,CT对其定性诊断具有重要价值 ,而定量判断有一定限度     

先天性一侧肺动脉缺如的电子束CT诊断

目的 评价电子束CT(EBCT)诊断先天性一侧肺动脉缺如的价值。方法 对经平片、超声心动图检查后拟诊为肺血管疾病或原发性肺动脉高压的患者行EBCT检查，EBCT诊断先天性一侧肺动脉缺如的11例患者入选，并与超声心动图、核素通气灌注扫描、心血管造影的检查结果作进一步的比较及评估。结果 单发一侧肺动脉缺如4例，均为女性成年人。合并多发心血管畸形7例，其中合并复杂畸形3例，均为男性儿童和左肺动脉缺如；合并单发心血管畸形4例，其中3例为右肺动脉缺如。结论 (1)儿童时期明确诊断的一侧肺动脉缺如多合并有心血管畸形，且左肺动脉缺如多见，成年人明确诊断的单发一侧肺动脉缺如多为右肺动脉缺如。(2)EBCT对先天性一侧肺动脉缺如的诊断有较高的实用价值，较之多普勒超声更为准确，与心血管造影各具独特优势，但EBCT为无创检查是其特点。     

原发性十二指肠腺癌影像诊断及手术切除相关影像征象的探讨

目的：探讨原发性十二指肠腺癌的影像表现及与手术切除相关征象。方法：对照手术回顾性分析17例经病理证实的十二指肠腺癌低张十二指肠造影(hypotonic duodenography，HD)和CT的表现。结果：HD显示息肉型9例，溃疡型7例，浸润型1例。CT均示腔内不规则肿块或肠壁增厚，3例示溃疡，胆系扩张10例，胰头浸润14例，血管浸润7例，淋巴结转移3例，肝转移2例。7例行根治术，10例行姑息术。结论：HD与CT结合可充分显示腔内病变，腔外浸润及转移。癌肿局限于腔内或仅侵犯胰头时可行根治术；侵犯周围重要血管，发生淋巴结、肠系膜及肝脏等转移时一般只能行姑息术。     

Sry监测体外扩增造血细胞植入效果的实验研究

目的：探讨Y染色体性别决定基因(Sry)作为评价和追踪造血细胞移植后植入状态检测指标的可行性。方法：根据Sry DNA序列设计引物及制备探针，然后进行PCR检测、斑点杂交和原位杂交．动态追踪经不同条件下体外扩增的纯系雄性小鼠BMMNC回输至雌性小鼠后的植入状态。结果：PCR结果显示在各移植组小鼠的骨髓有核细胞、脾细胞及外周血白细胞中均有Y染色体特异性序列的存在；斑点杂交结果显示在各回输组间并无明显差别，但用脾脏组织作原位杂交的结果则发现基质细胞支持扩增回输组的阳性颗粒数目与输注新鲜细胞组相似，但略少于雄性小鼠；而输注细胞因子扩增细胞实验组小鼠则明显少于雄性动物的阳性对照标本和基质细胞支持扩增回输组。结论：(1)经重复检测表明上述方法的重复性好，结果可信．可作为检测性别不同时造血干细胞移植效果的一种检测手段；(2)证实基质细胞支持下的体外扩增的造血细胞具有较好的植入能力。