染发次数与骨髓增生异常综合征患者部分预后因素的相关性分析

目的:分析染发次数与骨髓增生异常综合征(MDS)患者的血清乳酸脱氢酶(LDH)值、染色体分型、国际预后积分系统(IPSS)评分、骨髓网硬蛋白定量间的相关性。方法:将我院108例初诊的MDS患者按染发剂使用次数分组,比较各组间LDH值、染色体分型、IPSS积分、网硬蛋白定量等指标的差异;分析观察指标与染发次数间的相关性。结果:108例MDS患者中,难治性贫血4例,难治性贫血伴环形铁粒细胞9例,难治性血细胞减少伴多系发育异常46例,难治性贫血伴原始细胞增多34例,MDS不能分类者8例,5q-者7例。不同染发组MDS患者间LDH值、IPSS积分、骨髓网硬蛋白定量、染色体核型的差异具有统计学意义(P<0.05),且与染发次数呈正相关。结论:染发剂的使用对MDS患者的预后具有一定影响。     

Clinical impact of the clone size in MDS cases with monosomy 7 or 7q deletion, trisomy 8, 20q deletion and loss of Y chromosome

The clone size has been postulated as a prognostic factor in myelodysplastic syndromes (MDS), though it has not been studied systematically. We tested its impact (<100% vs. 100%) in a population of 216 MDS with chromosome 7 abnormalities (−7/7q−) (n = 84), trisomy 8 (n = 99), 20q deletion (n = 28) and loss of Y chromosome (n = 26). Focusing on the survival the bad prognosis of −7/7q− was independent of the clone size (9.3 vs. 5.0 months, P = 0.188, not significant) but trisomy 8 cases with 100% aberrant metaphases did reveal a worse prognosis (13.9 vs. 5.9 months, P = 0.003).     

荧光原位杂交和常规细胞遗传学在慢性粒细胞白血病研究中的应用

目的：应用荧光原位杂交（FISH）和染色体核型分析技术,探讨慢性粒细胞白血病（CML）细胞遗传学特点与临床预后的相关性。方法：采用骨髓细胞直接法和（或）短期培养法制备染色体标本,采用热变性姬姆萨显带技术（RHG）进行染色体核型分析。荧光染色体原位杂交技术检测40例CML患者的BCR／ABL融合基因。回顾分析282例CML的临床及细胞遗传学资料。结果：常规细胞遗传学（CC）分析表明,282例患者中268例Ph染色体阳性,占95．04％;14例Ph染色体阴性,占4．96％。其中250例Ph阳性细胞为100％,占90．32％。12例Ph阳性细胞为30％～99％,占4．48％,核型显示正常与Ph嵌合状态。6例核型为复杂变异异位,占2．24％。41倒除Ph染色体外,还出现额外染色体异常,占15．30％,分别为双Ph,＋8,＋22,-Y,i（17q）等,其中28例为加速或急变患者,占68．29％。应用FISH技术检测,BCR／ABL融合基因阳性34例（舍14例Ph染色体阴性中的8例）,占85％;BCR／ABL阴性6例,占15％。结论：在常规细胞遗传学分析的基础上,选用分子遗传学FISH技术可以明显提高染色体异常的检出率及准确率。细胞遗传学对于CML的正确诊断、指导临床治疗、判断预后具有重要价值。     

A long-lasting,complete hematologic and cytogenetic remission of chronic myelogenous leukemia after treatment with busulfan alone

 A 44-year-old man suffering from cytogenetically and molecularly proven Philadelphia translocation-positive chronic myelogenous leukemia in chronic phase was treated with busulfan for 18 months and studied during a follow-up period of 13 years. Hematologically and cytogenetically, he attained a continuing complete remission, although at one point (9.5 years) at least, after attaining complete remission molecular analysis indicated the presence of minimal residual disease. Received: 27 October 1995 / Accepted: 27 February 1996     

Cytogenetics of human spermatozoa

Human sperm chromosomes can be visualized after their fusion with zona-free hamster eggs. We analyzed a total of 867 metaphases from 33 men that had been classified into three different groups. We present a detailed summary of the kind and frequency of chromosome aberrations we encountered. A comparison of our results with previous studies demonstrates considerable variations in numerical and structural chromosome anomalies in spermatozoa from normal, healthy men. The possible reasons for this are discussed. We reviewed some factors which are supposed to correlate with the occurrence of sperm chromosome aberrations; the effect of paternal age is still uncertain.     

Mutagenicity studies with Praziquantel,a new anthelmintic drug,in mammalian systems

Praziquantel, a new anthelmintic drug with antischistosomal and anticestodal properties, was tested in comparison with a placebo control and a positive control with cyclophosphamide in mammalian test systems in vivo for potential mutagenic effects. The test systems used and the tested doses of Praziquantel were: (1) Dominant lethal test on male NMRI mice, 12 mating periods of 4 days each, 1×1200 mg/kg BW by mouth; (2) Dominant lethal test on female NMRI mice, treatment during pre-estrus, 1×1200 mg/kg BW by mouth; (3) Micronucleus test on male and female NMRI mice, two doses with a 24-h interval and preparation of the femoral marrow 6 h after the second dose, 2 ×300 mg/kg and 2×600 mg/kg BW by mouth; (4) Spermatogonial test on the Chinese hamster, two doses with a 24-h interval and preparation of the spermatogonia 48 h after the second dose, 2×600 mg/kg BW by mouth. The 1200 mg/kg BW dose corresponded to approximately 1/2 of the LD₅₀ after oral application in the mouse and about 40 times the therapeutic dose (1×30 mg/kg BW). The cyclophosphamide doses in the test systems were 1×200 mg/kg or 2 ×200 mg/kg BW by mouth.No indication was found of any mutagenic potency of Praziquantel. This agrees with the results of point-mutation tests done by other authors.

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Zusammenfassung Praziquantel, ein neues Anthelmintikum mit Antischistosomen- und Anticestodenwirkung, wurde im Vergleich zu einer Placebo-Kontrolle und zu einer Positiv-Kontrolle mit Cyclophosphamid in verschiedenen Säuger-Testsystemen in vivo auf mögliche mutagene Wirkungen untersucht. Die Testsysteme und untersuchten Praziquantel-Dosen waren: (1) Dominant-Letal-Test an der männlichen NMRI-Maus, 12 Paarungsperioden zu je 4 Tagen, 1× 1200 mg/kg KG per os; (2) Dominant-Letal-Test an der weiblichen NMRI-Maus, Applikation im Pro-Oestrus, 1×1200 mg/kg KG per os; (3) Mikronucleus-Test an männlichen und weiblichen NMRI-Mäusen, zweimalige Gabe im Abstand von 24 Std und Aufarbeitung des Femurmarks 6 Std nach der zweiten Applikation, 2×300 mg/kg und 2×600 mg/kg KG per os; (4) Spermatogomen-Test am Chinesischen Hamster, zweimalige Gabe im Abstand von 24 Std und Aufarbeitung der Spermatogonien 48 Std nach der zweiten Applikation, 2 × 600 mg/kg KG per os. Die Dosis 1200 mg/kg KG per os entsprach etwa der halben LD₅₀ nach oraler Gabe an der Maus und ca. dem 40fachen der therapeutischen Dosis (1×30 mg/kg KG per os). Die Cyclophosphamid-Dosen waren in den entsprechenden Testsystemen 1×200 mg/kg bzw. 2×200 mg/kg KG per os.Es fand sich kein Hinweis auf eine mutagene Potenz von Praziquantel. Dies stand im Einklang mit den Ergebnissen von Punktmutations-Tests, die von anderen Autoren durchgeführt worden sind.

     

Cytogenetic markers and their spatial distribution in a population living in proximity to areas sprayed with pesticides

Human populations are in contact with potentially toxic substances in varying amounts, if the exposure is work-related or direct, generally the amount of toxin is usually greater than if the exposure is environmental through the drifts that occur. It was proposed to determine the existence of genotoxic damage evaluated through Chromosomal Aberrations and Micronuclei assays and their spatial distribution pattern, as well as the possible relationship between that damage and the values found in biochemical biomarkers, in groups of individuals environmental exposure (respiratory exposure) to mixtures of pesticides, in the province of Córdoba-Argentina. Biochemical and hematological determinations were made in each samples. The results reveal that the monitoring of human populations through the analysis of cytogenetic markers enabled the detection of direct damage in man caused by polluting substances and the results were obtained rapidly. The disadvantage of this type of study is the inability to estimate the degree of exposure.     

Chromosomal aberration analysis in workers exposed to chemical and biological hazards in research laboratories

Cytogenetic monitoring of individuals occupationally exposed to chemical and biological hazards has found increased frequencies of cells with chromosomal aberrations. During the present study we analyzed the frequency of chromosomal aberrations in cells from individuals working in various chemistry and biology research laboratories of the University of Brasilia, Brazil. When evaluated jointly and compared to a control group there was no significant increase in the frequency of chromosomal aberrations in the laboratory personnel. However, a group constituted of individuals of the Genetics Laboratory showed a statistically significant increase in the frequency of structural chromosomal aberrations of the chromatid gap type.     

Cytogenetic Profile of Moroccan Pediatric Acute Lymphoblastic Leukemia: Analysis of 155 Cases With a Review of the Literature

Background

Acute lymphoblastic leukemia (ALL) is the most common malignancy in children, with a peak incidence at 2 to 3 years of age and accounting for almost 30% of all cancers in this age group. It is well established that the identification of cytogenetic abnormalities is highly relevant for the prognosis of and therapeutic decisions in ALL. The purpose of the present study was to define the frequency of recurrent chromosomal abnormalities of ALL in Moroccan patients referred exclusively to the BIOLAB Laboratory of the Children's Hospital of Rabat during a 4-year period and compare our findings to the reported data.