CT引导下胰腺穿刺早期诊断胰腺感染

作者对１９９０年至１９９６年收治的１２２例重症急性胰腺炎中持续发热、白细胞增高、疑有感染的２１例患者行ＣＴ引导下细针穿刺细菌学检查，确定有无胰腺感染。在ＣＴ引导下根据病变的部位选择适当的穿刺点及进针方向。穿刺点可经前腹壁、侧腹壁或脊柱旁，并对穿刺液行细菌学检查。结果：（１）２１例共穿刺３５例次，无穿刺所致并发症。（２）证实胰腺感染１３例。细菌种类包括大肠杆菌、假单胞菌属及霉菌等；单一细菌感染７例，多种细菌感染６例。（３）胰腺感染者ＣＴ表现均为Ｄ或Ｅ级；除１例感染性假性囊肿发生于发病后３个月外，其他均发生于胰腺炎发病后４～１５天，平均１０．２天。（４）８例穿刺阴性者除１例因应激性溃疡大出血手术外，均经支持治疗治愈。提示ＣＴ引导下胰腺穿刺是早期诊断胰腺感染的可靠方法。     

乳癌病人单次卡铂和阿霉素化疗诱发的染色体损伤和细胞生物学毒性

应用常规染色体畸变分析和胞浆分裂阻滞微核（ｃｙｔｏｋｉｎｅｓｉｓｂｌｏｃｋｍｉｃｒｏｎｕｃｌｅｉ，ＣＢＭＮ）法对１０例接受单次卡铂（平均剂量为４６２．９ｍｇ／ｍ２）和单次阿霉素（平均剂量为４８．１ｍｇ／ｍ２）化疗的乳癌病人血样进行了淋巴细胞染色体畸变（ｃｈｒｏｍｏｓｏｍｅａｂｅｒａｔｉｏｎ，ＣＡ）和微核（ｍｉｃｒｏｎｕｃｌｅｉ，ＭＮ）的观察分析，并通过有丝分裂指数（ｍｉｔｏｔｉｃｉｎｄｅｘ，ＭＩ）及核分裂指数（ｎｕｃｌｅａｒｄｉｖｉｓｉｏｎｉｎｄｅｘ，ＮＤＩ）观测了细胞毒性。结果表明，单次卡铂和阿霉素化疗均引起了ＣＡ和ＭＮ显著性增加，所观察到的ＣＡ主要为单体畸变，其中单体间隙（ｃｈｒｏｍａｔｉｄｇａｐ，ｃｔｇ）的增加最为显著，染色体型畸变未见显著性变化；卡铂引起ＭＩ明显减低，阿霉素对ＭＩ的影响不显著；两种化疗药物均未对ＮＤＩ产生显著性影响；通过ＭＩ及ＮＤＩ测量的细胞毒性之间显著性相关，但ＣＡ分析和ＣＢＭＮ法测得的染色体损伤之间缺乏相关性。     

Second case report of del(4) (q25q27) and review of the literature

We report a malformed infant with a de novo interstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al. (1988), we conclude from our comparison of the seven previously reported cases involving deletions of bands 4(q25q27) that a specific phenotype cannot yet be described for this deletion.     

Hypothesis: association of the critical region of trisomy 18 and 18q2—syndrome with dermatoglyphic findings and a growth suppressor (deleted in colon cancer) locus

Evidence from the literature is reviewed to suggest that when fingertip dermal ridge patterns in chromosomal deletion syndromes are characteristic of the opposite spectrum of the developmental scale from patterns found in cases trisomic for the same chromosomal region, the association may be a consequence of loci with growth regulatory functions. Evidence is presented that DNA markers at 18q21 should be the first candidate sequences to be used to test this hypothesis in families with fingertip arches segregating in an apparent autosomal dominant fashion.     

福建莆田739例遗传咨询者细胞遗传学分析

目的 :探讨福建莆田遗传咨询者的医学细胞遗传学主要特征。方法 :采用细胞遗传学方法对 739例遗传咨询者进行外周血淋巴细胞检查。结果 :739例遗传咨询者中发现染色体异常 5 6例 ,异常率为 7.5 8% ,其中常染色体数目结构异常 4 3例 ,占 76 .9% ,性染色体异常 13例 ,占 2 3.1%。结论 :智力低下、不良孕产史、性发育异常与遗传染色体异常密切相关 ,不良孕产史推出异常核型率 3.31% ,较正常群体的 0 .5 %显著性增高 ,与文献报道基本符合     

Higher-order organization and compartmentalization of satellite DNA PIM357 in species of the coleopteran genus Pimelia

The PIM357 satellite DNA family is present in 26 Pimelia taxa (Tenebrionidae, Coleoptera) with endemic congeneric species from the Canary Islands showing higher interrepeat variability than continental ones. In this paper, we compare the repetitive DNA sequences of a Canarian species that has distinct subfamilies of repeat units, P. radula ascendens, with another without such subfamilies, P. sparsa sparsa. The chromosomal localization of the repeat units and the comparison of the variability of randomly cloned monomers to the one estimated by comparing repeat units from dimers and trimers suggest the absence of satellite subfamilies in P. sparsa sparsa. Hence, the repeat units of this species seem to be uniformly and randomly distributed throughout all chromosomes out of one chromosomal pair. On the contrary, P. radula ascendens shows four divergent subfamilies of repeat units supported by several diagnostic nucleotide substitutions. These subfamilies seem to form four distinct repeat units: monomer subfamily 1, monomer subfamily 4 and two higher-order units (dimer linking subfamily 1 and 4, and dimer linking subfamily 2 and 3). Moreover, monomers of subfamily 1 are present in three chromosomal pairs only. We discuss the effect of different potential factors acting in the concerted evolution and the genomic organization of stDNA sequences in these taxa. This revised version was published online in July 2006 with corrections to the Cover Date.     

男性不育症患者中YRRM2基因缺陷的研究

YRRM基因是控制精子生成与成熟的一个重要因素，一旦该基因缺陷，将会造成无精或少精。本研究对340例无精与少精患者的外周血标本进行了PCR基因扩增筛查，结果发现7例为该基因缺陷，占2％。证明YRRM2的缺陷也是造成中国人群男性不育的一个原因，从而可作为指导医生采用适当治疗方法的一个可靠指标。在实验过程中，采用直接加热白细胞提取基因组DNA，并以此作为模板对YRRM2基因进行扩增，既节省时间和经费，又保持良好的扩增效果，使之可用于临床医院作为常规检查。     

非同位素PCR方法检测脆性X 综合征FMR-1基因CGG重复序列数目

目的 建立一种可靠、简便的非同位素PCR方法检测脆性X综合征的突变基因。方法 采用生物素标记的CGG寡核苷酸探针，检测通过PCR扩增的FMR-1基因中CGG三核苷酸重复序列数目。从而判断所检样品中FMR—1基因是否正常。结果 该法可检测出正常人及携带者的CGG重复拷贝数。结论 该方法可以简便、安全、可靠地检测FMR—1基因中(CGG)n重复拷贝数，从而确定为正常人或携带者，可作为临床上筛查脆性X综合征的首选方法。     

急性传染性非典型肺炎的影像表现

目的探讨急性传染性非典型肺炎(SARS)的X线表现及变化规律.方法回顾性分析临床诊断SARS的61例患者,对发病后的一系列胸片和CT影像进行统计分析.结果患者以发热为最早起病症状,88.5%患者在起病1周内肺部出现肺局灶性斑片状模糊影,并迅速扩大.2周内病变达高峰,有57.4%患者两肺大部分肺野受累,病情重.83.6%患者在5周内肺部阴影逐渐消散.在恢复期16例CT扫描中,有13例显示肺部遗留纤维化病灶.有6例患者合并感染,病期延长,4例死亡.结论SARS早期出现肺部炎性改变,发展迅速,大部分两肺受累,重症比例高,易致肺纤维化.