急性淋巴细胞性白血病患儿dic(8;9)(p11;q11) 染色体继发t(9;22)(q34;q11)核型异常一例

t(9;22)(q34;q11)是急性淋巴细胞性白血病(acute lymphoblastic leukemia ,ALL)中常见的原发性核型改变,其作为继发性核型异常则较少见.近来我们发现一例dic(8;9)(p11;q11)继发t(9;22)(q34;q11) 的ALL,并对其进行了间期荧光原位杂交(fluorescence in situ hybridization,FISH)的研究,证实了dic(8;9)和bcr/abl融合基因的存在.逆转录聚合酶链反应(RT-PCR)检测其基因产物为p210bcr/abl,现报告如下.     

Chromosome translocation (2;13) (q37;q14) in a disseminated alveolar rhabdomyosarcoma

Chromosome analysis of tumour cells in the bone marrow of a 13.5-year-old girl (without a primary tumour) revealed a pseudo-diploid or pseudo-tetraploid karyotype with a translocation involving the long arms of chromosomes 2 and 13: t(2;13) (q37;q14). This finding enabled the diagnosis of a disseminated alveolar rhabdomyosarcoma (RMS) to be established. The patient was treated by cytotoxic chemotherapy, went into complete remission, but died of relapse 14 months after diagnosis. As several cases with this translocation have been described recently, this additional report confirms that t(2;13) is specific for the alveolar subtype of RMS.Abbreviations RMS rhabdomyosarcoma - RPMI Roswell Park Memorial Institute - FCS foetal calf serum - nm modal number     

Transient Acute Monoblastic Leukemia with Reciprocal (8; 16) (p11; p13) Translocation

The translocation of t(8;16)(p11;p13) has been demonstrated in the blasts of aphenotypically normal newborn baby with acute monoblastic leukemia. No antileukemic therapy was administered and spontaneous, complete remission was observed at 2 months of age. The patient remains well 18 months after the diagnosis and continues to have a normal hemogram.     

远端型进行性肌营养不良1例

患儿 ,女 ,13岁 ,足月顺产 ,无窒息、产伤史等。自幼行走较迟。 3～ 4岁走路仍不稳 ,易跌倒 ,上学后发现跑步不能。近 1～ 2年家长发现其走路时足尖落地 ,足跟抬起。因家庭经济条件所限 ,从未来医院系统诊治。近 1年来 ,起立明显困难 ,方引起家长注意而求医。父母非近亲婚配 ,无遗传性疾病 ,该患儿为独生女。查体 :发育正常 ,营养中等 ,表情自然 ,颜面肌丰满。ＢＰ :110 / 70ｍｍＨｇ。呼吸平稳 ,心肺正常 ,腹部平软 ,肝脾不大。肩部活动自如 ,双上肢上举有力 ,越过头部。肩部无鸟翼状。冈上肌、冈下肌、三角肌、肱三头肌、肱二头肌均无萎缩…     

β受体功能亢进症27例

目的：探讨β受体功能亢进症的临床特点。方法：回顾性分析２７例β受体功能亢进症患儿的临床资料。 结果：该病以学龄期女孩多见,表现为胸闷,心慌、心悸,喜长出气,且症状易反复;体查可有心动过速,心尖区杂音;心电图可表现为Ⅱ,Ⅲ,ａｖＦ及Ｖ５导联ＳＴ－Ｔ改变,易误诊为心肌炎,可同时合并有直立调节障碍。倍他乐克治疗有效。结论：该病属非器质性疾病,有反复性、多样性、易变性特点,无特异性的诊断方法,心得安试验有非特异性,为减少漏误诊,临床上可推广应用多巴酚丁胺负荷试验。     

James Ewing (1866–1943): “the chief”

“It is a growing conviction that to know cancer in man, one must study the disease most carefully in the human subject. Personally, I do not look for any startling advances or sensational discoveries, since it is much more likely that a steady reduction in the mortality from cancer will come chiefly from a large number of separate factors, of which the most significant appear to be increased control of the conditions leading to cancer, more general recognition of the preliminary stages of the disease, early diagnosis, and treatment of the established disease. From the consideration of these various functions of the modern cancer research hospital, I think that it must be evident that such an institution not only can justify its existence, but fills a very urgent need without which, progress of cancer research would be handicapped, and much relief that might early be extended to cancer victims would be unavailable. Nor is there any doubt that the function of supporting such an institution is properly exercised by the State, which support should be continuous and liberal”—James Ewing [2]. © 1993 Wiley-Liss, Inc.