弥可宝对肘管综合征致肘、腕、环指功能障碍恢复的作用

1 Subject and method 1.1 Subject 60 cases of middle and severe cubital tunnel syndrome from 1992 to 2000 were divided into three groups randomly: Group A was the Mikebao group: 20 cases including 17 male cases and 3 female cases, their ages were from 22～ 45 with the average one as 25; Group B was the vitamin B12 group: 19 cases including 17 male cases and 2 female cases, their ages were from 24～ 50 with the average one as 27; Group C was the control group: 21 cases including 19 male cases and 2 female cases, their ages were from 23～ 60 with the average one as 26. all the patients were sick at single sides, 42 cases were on the right side and 18 cases were on the left side. Causes: 15 cases were with elbow injury history and limited elbow movement, others were of no obvious causes. Courses: 5～ 72 months with the average one as 15 months. Clinical manifestation and signs: 49 cases were with elbow sour and swelling, 58 cases were with adductor pollicis muscle atrophy and 54 cases were with claw hand.Electromyography examination: ulnar nerve movement of the 60 cases at the elbows were obviously slow and CMAP (compound muscle active potential) latent periods were prolonged. All the Tinel sign of ulnar nerves were positive, one cases was with muscle paralysis and partial functional disorder at the median nerve domain, it was proven to be CTS after operation.     

FICTION技术在检测多发性骨髓瘤遗传学异常中的应用

目的 探讨联合免疫荧光和荧光原位杂交(FISH)的FICTION技术在多发性骨髓瘤(MM)遗传学异常检测中的应用价值.方法 采集18例MM患者和2例浆细胞白血病患者的骨髓标本,分离单个核细胞制作滴片.从细菌人工染色体文库中选取覆盖IgH、MMSET待测基因位点的质粒,用缺口平移法制备带有半抗原检测标签的核酸探针.在经CD138标记和酪胺信号放大的细胞滴片标本上,使用上述自制探针[t(4;14)、t(11;14)和t(14;16)]和商品化直标缺失探针(13q和p53)进行FISH检测.结果 20例患者标本均使用上述5种探针进行检测,其中检出t(4;14)4例,t(11;14)6例,t(14;16)1例,p53缺失3例,13q缺失8例;另有4例未检测出此5种异常.结论 应用FICTION技术原位分析骨髓中特定瘤细胞亚群的特征性遗传学异常,能够提高FISH检测的效率和敏感性,并可作为对MM患者遗传学分层诊断的初筛实验,指导治疗并判断预后.

Abstract：

Objective To investigate the diagnostic value of FICTION (Fluorescence Immunophenotyping and Interphase Cytogenetics as a Tool for the Investigation of Neoplasms) technique, combining immunofluorescence and fluorescence in situ hybridization (FISH), to detect genetic aberrations in multiple myeloma (MM). Methods Bone marrow samples were collected from 18 MM and 2 plasma cell leukemia (PCL)patients. Probes targeting IgH and MMSET were prepared using a Nick Translation Kit from Bacterial artificial chromosome (BAC) clones. The immunophenotyping was achieved via the CD138 tyramide signal amplification (TSA)-mediated immunofluorescence, followed by FISH with the prepared probes [t (4;14), t (11;14), t(14;16)] and the commercial deletion probes (13q and p53) to detect common genetic aberrations in MM. Results All the 20 samples were assayed with the probes mentioned above, and revealed 4 cases with t(4;14) ,6 with t(11 ;14), 1 with t(14;16), 3 with p53 deletion; and 8 with 13q deletion. The remaining 4 cases had none of the 5 aberrations. Conclusion FICTION technique facilitates the detection of genetic abnormalities of MM in situ; enhances both efficiency and sensitivity of positive det~tion, thus, could be used as the screening test of molecular diagnosis of MM to guide coming-up risk-adapted therapy and evaluate prognosis.     

Clincal research of HA program combimed co-α-2b interferon on treatment of chronic myeloid leukemia

Objective To observe the HA program (3 harringtonine and Ara-C) co-α-2b interferon treatment of chronic myeloid leukemia in the feasibility and safety. Methods In our hospital from December 2005 to January 2009 out-patient and hospitalization in patients with CML were randomly assigned according to the principle of 51 cases were divided into 26 cases of the observation group and control group 25 cases. The control group were treated with α-2b interferon 3 × 106U subcutaneously or intramuscularly 3 times per week,intramuscularly 1 to 12 months to ease later changed to 2 times per week to maintain; treatment group therapy in the control group based on the GC small dose of HA programs: subcutaneous injection of Ara-C 20 mg,every 12 h one time; homoharringtonine alkaline 2 mg/d plus 5 % glucose solution 500 mL, by intravenous infusion over 4 h,in conjunction with the 7 ～ 14 d for a course of treatment monthly repeated a times, after 12 months depending on the circumstances every 2 to 3 months a time. Results The observation group and the control group,hematological remission total effective rates were 96.15% (25/26) and 72.0% (18/25),the observation group than the control group,2 group, the difference was significant (P<0.05); the observation group cytogenetic response overall response rates were 76.92% (20/26) and 20.0% (5 / 25), the observation group cytogenetic response overall response rate than the control group, 2 group, the difference was significant sex (P<0.05);two groups of patients with adverse reactions can be tolerated, does not affect the treatment. Conclusion Small dose of HA regimen combined with recombinant in terferon α-2b treatment of CML than single recombinant interferon α-2b high efficacy, with lower white blood cell effects of apparent high rate of hematologic response, no increase in adverse reactions and survival prolonged and so on.     

Clincal research of HA program combimed co-α-2b interferon on treatment of chronic myeloid leukemia

Objective To observe the HA program (3 harringtonine and Ara-C) co-α-2b interferon treatment of chronic myeloid leukemia in the feasibility and safety. Methods In our hospital from December 2005 to January 2009 out-patient and hospitalization in patients with CML were randomly assigned according to the principle of 51 cases were divided into 26 cases of the observation group and control group 25 cases. The control group were treated with α-2b interferon 3 × 106U subcutaneously or intramuscularly 3 times per week,intramuscularly 1 to 12 months to ease later changed to 2 times per week to maintain; treatment group therapy in the control group based on the GC small dose of HA programs: subcutaneous injection of Ara-C 20 mg,every 12 h one time; homoharringtonine alkaline 2 mg/d plus 5 % glucose solution 500 mL, by intravenous infusion over 4 h,in conjunction with the 7 ～ 14 d for a course of treatment monthly repeated a times, after 12 months depending on the circumstances every 2 to 3 months a time. Results The observation group and the control group,hematological remission total effective rates were 96.15% (25/26) and 72.0% (18/25),the observation group than the control group,2 group, the difference was significant (P<0.05); the observation group cytogenetic response overall response rates were 76.92% (20/26) and 20.0% (5 / 25), the observation group cytogenetic response overall response rate than the control group, 2 group, the difference was significant sex (P<0.05);two groups of patients with adverse reactions can be tolerated, does not affect the treatment. Conclusion Small dose of HA regimen combined with recombinant in terferon α-2b treatment of CML than single recombinant interferon α-2b high efficacy, with lower white blood cell effects of apparent high rate of hematologic response, no increase in adverse reactions and survival prolonged and so on.     

腹腔压力与重症急性胰腺炎严重程度的关系

Objective Previous investigations suggest that severe acute pancreatitis (SAP) is one of the main causes of intra-ahdominal pressure (lAP) increase. The aims of this study were, to evaluate the increased IAP in patients with SAP and the correlation between LAP and severity or prognosis. Method Data of 75 SAP patients admitted to Xuan-Wu Hospital of Capital Medical University intensive care unit with SAP from January 2000 to Jan-uary 2008 were collected. All the patients had at least one organ dysfunction, and they were diagnozed with en-hanced CT, lAP were monitored in the 56 patients. The 56 patients were divided into three groups according to IAP, group A (7- 15 mmHg), group B (16-25 mmHg) and group C (26-31 mmHg). Maximal APECHE Ⅱscore, maximal Ranson score, maximal C-response protein (CRP), maximal arterial lactate, maximal creatinine, organ dysfunction, length of stay and mortality were compared. Results The 56 patients (24 male and 32 female)with average age of (52±14.1) years (ranging 21 - 72 years) and average body mass index (BMI) of 28±12.5(ranging 21 - 35) were monitored with IAP. The etiologic causes of SAP were biliary in 27 patients, alcohol in 14cases, hyperlipidemia in 11 cases and idiopathic in 4 cases. The rate of intra-abdominal hypertension was 89% (50/56), and 32% (18/56) patients complicated with abdominal compartment syndrome. There were 22, 26 and 8 patients in the A, B and C groups respectively. With the increasing of IAP, the maximal APACHE Ⅱ, maximal Ranson score, maximal CRP, maximal creatinine, organ dysfunction and mortality were also increased significant-ly. The mortality of the three groups was 13.6% (3/22), 23.1% (6/26) and 62.5% (5/8) respectively (χ2 =7.56, p = 0.023), and the total mortality of the 56 patients was 25%. The hospital stay of the three groups had no significant differenee(F = 2.23,P = 0.117). Conclusions IAP may be one of the markers used to evaluate the severity of SAP, and the monitoring of IAP is useful to assess the prognosis in patients with SAP.     

腹腔压力与重症急性胰腺炎严重程度的关系

Objective Previous investigations suggest that severe acute pancreatitis (SAP) is one of the main causes of intra-ahdominal pressure (lAP) increase. The aims of this study were, to evaluate the increased IAP in patients with SAP and the correlation between LAP and severity or prognosis. Method Data of 75 SAP patients admitted to Xuan-Wu Hospital of Capital Medical University intensive care unit with SAP from January 2000 to Jan-uary 2008 were collected. All the patients had at least one organ dysfunction, and they were diagnozed with en-hanced CT, lAP were monitored in the 56 patients. The 56 patients were divided into three groups according to IAP, group A (7- 15 mmHg), group B (16-25 mmHg) and group C (26-31 mmHg). Maximal APECHE Ⅱscore, maximal Ranson score, maximal C-response protein (CRP), maximal arterial lactate, maximal creatinine, organ dysfunction, length of stay and mortality were compared. Results The 56 patients (24 male and 32 female)with average age of (52±14.1) years (ranging 21 - 72 years) and average body mass index (BMI) of 28±12.5(ranging 21 - 35) were monitored with IAP. The etiologic causes of SAP were biliary in 27 patients, alcohol in 14cases, hyperlipidemia in 11 cases and idiopathic in 4 cases. The rate of intra-abdominal hypertension was 89% (50/56), and 32% (18/56) patients complicated with abdominal compartment syndrome. There were 22, 26 and 8 patients in the A, B and C groups respectively. With the increasing of IAP, the maximal APACHE Ⅱ, maximal Ranson score, maximal CRP, maximal creatinine, organ dysfunction and mortality were also increased significant-ly. The mortality of the three groups was 13.6% (3/22), 23.1% (6/26) and 62.5% (5/8) respectively (χ2 =7.56, p = 0.023), and the total mortality of the 56 patients was 25%. The hospital stay of the three groups had no significant differenee(F = 2.23,P = 0.117). Conclusions IAP may be one of the markers used to evaluate the severity of SAP, and the monitoring of IAP is useful to assess the prognosis in patients with SAP.     

Fisher判别分析在预测异位妊娠中的价值探讨

Objective To discuss the value of Fisher discriminant analysis of serum progesterone and the growing rate of β-human chorionic gonadotropin in the prediction of early ectopic pregnancy. Methods 66 patients with ectopic pregnancy (11 cases were successfully treated expectantly and 55 cases were treated surgically including 40 cases of rupture of fallopian tube and 15 cases of tubal abortion) and 55 patients with intrauterine pregnancy and 50 patients with threatened abortion were chosen. Serum progesterone,β-HCG,48 hβ-HCG and the 48 h growing rate of β-HCG in each group were measured and a Fisher discriminant analysis was used. Results The serum progester-one was (30.27± 18.20) nmol/L in ectopic pregnancy group,( 108.44±23.27 ) nmol/L in intrauterine pregnancy group and (91.68±34.90) nmol/L in threatened abortion group. The first β-HCG was ( 3767.63 ± 3530.38 ) U/L in ectopie pregnancy group,(29 028.65 ± 10 874.01 )U/L in intrauterine pregnancy group and (13 457.47±16 367.65)U/L in threatened abortion group. The second β-HCG was (4349.24±3536.22)U/L in ectopic pregnancygroup,(56 139.46 ± 23 296.87 ) U/L in intrauterine pregnancy group and (23 270.63 ± 23 811.68 ) U/L in threat-ened abortion group. The growing rate of β-HCG ( β-HCG/the first serum β-HCG) was 1.29 ± 0.28 in ectopic preg-nancy group,1.93 ± 0.36 in intrauterine pregnancy group and 1.97±0.28 in threatened abortion group. There was significant difference in serum progesterone,the first β-HCG and the second β-HCG as well as the growing rate of β-HCG among the groups(P<0.05 or <0.01). Fisher discriminant analysis of combing progesterone and the growing rate of β-HCG were connected with diagnosis of ectopic pregnancy,however,the only one serum β-HCG was not con-nected with diagnosis of ectopic pregnancy. 98.5% of ectopic pregnancy,65.6% of intrauterine pregnancy and 64.0% of threatened abortion were correctly classified in the Fisher discfiminant analysis,with overall correct rate of 77.8%. Conclusion Fisher discriminant analysis of combing progesterone and the growing rate of β-HCG can bet-ter predict the early ectopic pregnancy.     

三聚氰胺污染奶粉致小儿泌尿系结石53例随诊分析

Objective To analyze the clinical features and prognosis of urinary calculi in children caused by melamine-contaminated milk. Methods Retrospective analysis of 53 cases of urinary calculi caused by melamine contaminated infant milk powder were performed. Clinical characteristics, lab measurements, colour Doppler ultrasound and CT examination results were collected, and the outcome of treatment and prognosis were followed up. Results In the 53 cases, there were 39 males and 14 females. The main clinical manifestations at admission included crying during urination, abdominal pain, hematuria, oliguria and anuria. Urine pH value was low with average of 5. 32 ±0. 25,blood uric acid was high with average of (638. 69 ±36. 25) μmol/L,blood urea nitrogen was high with average of (8. 35 ± 1. 97) mmol/L The colour Doppler ultrasound and CT examination showed calculi in both or one side kidney,or combined with calculi in both or one side ureter,calculi in one side ureter,or bladder calculi. After medical treatment,all calculi were exported,urine pH values increased to 6. 52 ±0. 47,blood uric acid blood and urea nitrogen decreased to (382. 31 ±29. 57) μmo/L and (5. 15 ±1.92) mmol/L No calculi reoccurred within one year of follow up. Conclusions Medical treatment of urinary calculi in children caused by melamine-contaminated milk powder was effective,and there were less stone recurrence after discharge.     

A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q)

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, near-triploidy in myeloid malignancies is associated with poor outcomes. Few studies on near-triploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic significance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS.     

50例MDS患者的细胞遗传学异常的荧光原位杂交检测和常规染色体核型分析研究

本研究对比FISH检测和常规染色体核型分析对骨髓增生异常综合征常见染色体异常克隆的检出率,探讨细胞遗传学异常与骨髓增生异常综合征进展为急性白血病的关系.应用FISH 5/7/20/8/Y染色体数目及缺失检测探针和常规染色体核型分析检测50例按WHO2008标准诊断MDS患者染色体异常克隆,随访患者MDS进展为急性白血病情况.结果表明：50例MDS患者FISH和常规染色体核型分析显示,二种检测涉及5、7、20、8号以及Y染色体的遗传学异常分别占50.0％（25/50）和40.0％（20/50）,累及5号染色体异常均为6.0％（3/50）,累及7号染色体异常分别为26.0％（13/50）和20.0％（10/50）,累及20号染色体异常分别为12.0％（6/50）和6.0％ （3/50）,累及8号染色体异常分别为24.0％（12/50）和20.0％（10/50）,Y染色体缺失均为2.0％（1/50）.染色体异常检出率为：7号染色体＞8号染色体＞ 20号染色体＞5号染色体＞Y染色体.47例患者接受造血干细胞移植情况：IPSS细胞遗传学不良组46.2％ （6/13）为转白血病前移植;良好组45.5％ （10/22）为转白血病前移植;中间组有16.7％（2/12）为转白血病前移植.MDS进展为急性白血病率,预后不良组为7.7％（1/13）,预后良好组为4.5％（1/22）,细胞遗传学预后中等组为58.3％ （7/12）.预后不良组进展为急性白血病者比例很低,与该组多数患者接受了异基因造血干细胞移植有关.结论：成套的FISH探针比常规染色体核型对特定的染色体异常检出率高,尤其对低克隆的染色体异常和常规染色体核型分析少于20个分裂相时优势明显.IPSS染色体核型预后分组显示预后良好组和预后不良组无差异,其原因可能是受异基因造血干细胞移植的影响.     

骨髓增生异常综合征del（20q）异常细胞克隆在骨髓细胞系列和凋亡细胞中的分布

为了探讨20号染色体长臂部分缺失[del（20q）]的1例骨髓增生异常综合征（MDS—RAEB-1）患者异常细胞克隆在骨髓各细胞系列和凋亡细胞中的分布，应用单克隆抗体通过流式细胞分选（FACS）del（20q）的MDS患者骨髓CD15^＋、GPA^＋、CD3^＋CD56^-CD16^-、CD19^＋、CD3^-CD56^＋CD16^＋细胞，应用Annexin V—FITC和PI通过FACS分选该患者骨髓Annexin V^＋PI^-（凋亡细胞）和Annexin V^-PI^-细胞（活细胞），然后应用LSID20S108探针和Telvysion^TM 20p探针对分选细胞分别进行间期双色荧光原位杂交（D—FISH）检测。同时选取4例核型正常者作为对照组进行相应检测。结果显示。该MDSRAEB-1患者的骨髓CD15^＋细胞和GPA^＋细胞中MDS克隆百分比分别为70．50％和93．33％，明显高于对照组（5．39％和6．17％）；而在CD3^＋CD56^-1CD16^-1，CD19^＋，CD3^-CD56^＋CD16^＋细胞中分别为3．23％、4．32％、5．77％，低于对照组（5．76％、4．85％、6．36％）。该患者骨髓有核细胞凋亡率为16．09％。MDS细胞克隆在凋亡细胞和活细胞中的比例分别为32．48％和70．11％。结论：MDS患者del（20q）异常克隆主要分布于粒系与红系细胞，以及一小部分凋亡细胞     

二例伴有dic(9;20)(p11-13;q11)急性淋巴细胞白血病患者的临床和实验研究

目的探讨伴有dic（9;20）（p11-13;q11）的急性淋巴细胞白血病（ALL）的细胞形态学、免疫学、细胞遗传学特征和临床特点.方法骨髓细胞经直接法和24h短期培养后按常规方法制备染色体,采用R显带技术进行细胞遗传学分析.分别以9号和20号染色体着丝粒探针进行双色荧光原位杂交（FISH）检测.结果2例患者的临床和血液学改变符合ALL诊断,免疫表型分析B淋系标志阳性（CD10＋、HLA-DR＋）;染色体核型分析显示2例患者均为dic（9;20）：例1为45,XY,der（9）t（9;20）（p11;q11）,-20[20],例2为45,XX,der（9）t（9;20）（p13;q11）,t（9;22）（q34;q11）,-20[10]/46,idem,＋8[16]/47,idem,＋8,＋21[14];其中1例经双色FISH检测证实9号和20号染色体之间发生了相互易位,且形成双着丝粒染色体.结论dic（9;20）（p11-13;q11）是一种少见的重现性核型异常,可能和ALL有特殊的联系.FISH技术是检测该易位的可靠手段.     

间期荧光原位杂交技术检测恶性血液病的11q23/MLL基因重排

目的分析伴有11q23／MLL基因重排的恶性血液病的细胞遗传学特点,探讨荧光原位杂交技术（FISH）在诊断及鉴定恶性血液病11q23／MLL基因重排中的价值。方法用间期FISH分析11q23／MLL基因易位细胞的30例恶性血液病患者的核型特征,用MLL双色分离探针绿色标记在（5′MLL,光谱绿）和（3′MLL,光谱桔红）。结果应用常规细胞遗传学及间期FISH分析白血病患者30例,结果显示11q23＋／MLL＋患者9例（30．0％）,12q23-／MLL＋患者4例（13．3％）,11q23＋／MLL-患者2例（6．7％）,11q23-／MLL-患者15例,检测到部分病例染色体核型分析与间期FISH方法检测11q23异常与MLL基因重排不一致。结论FISH在检测11q23／MLL基因重排方面与传统的常规细胞遗传学相比具有检出率高的优势,能更有效、直观地分析恶性血液病的染色体异常,对于恶性血液病的诊断以及异常染色体的检出具有广泛的应用前景。     

间期荧光原位杂交检测骨髓增生异常综合征20q-染色体异常

为了探讨间期荧光原位杂交(FISH)技术在检测骨髓增生异常综合征(MDS)20号染色体长臂部分缺失异常中的价值，应用绿色荧光素SpectrumGreen直接标记的酵母人工染色体(YAC)克隆912C3(跨越20号染色体长臂q12断裂点)作为探针，对52例MDS患和5名正常对照的骨髓细胞进行单色间期FISH检测，每例分析200—300个细胞，以1个绿色荧光杂交信号＞7．16％作为阳性标准，并与常规细胞遗传学(conventional cytogenetics，CC)检测结果相比较。结果显示，52例MDS患中FISH检测7例(13．5％)为阳性，CC检测其中4例为阳性，3例为阴性。结论：YAlC912C3为探针的间期FISH技术是检测MDS患20q-染色体异常的有效方法，是CC检测的一个重要补充。     

急性白血病和骨髓增生异常综合症染色体-7/7q-异常的细胞遗传学和临床分析

本研究探讨染色体 - 7/ 7q -异常在恶性血液学疾病的发生、发展和预后中的作用。用细胞染色体显带技术分析 4 10例初发急性白血病 (acuteleukemia ,AL)、71例骨髓增生异常综合症 (myelodysplasticsyndrome ,MDS)和36例慢性粒细胞白血病 (chronicmyelogenousleukemia acceleratedphase ,CML AP)的细胞核型。结果表明 :染色体- 7/ 7q -异常在AL ,MDS和CML AP患者中的检出率分别为 4 .88% ,9.86 %和 8.33% ,在急性髓细胞白血病(AML)和急性淋巴细胞白血病 (ALL)中均可检出染色体 - 7/ 7q -异常 ,检出率分别为 4 .70 %和 6 .2 5 % ,两者无明显差别 (P >0 .0 5 )。 9例具有单独染色体 - 7或 7q -异常 ,2 2例伴有其他染色体异常 ,如 -X、- 5、 8、t(3;3)、t(11;16 )、t(2 ;11)等。发现 1例MDS RAEB患者具有 - 7异常克隆 ,同时还有 7q -异常克隆出现 ,而且 - 7异常的细胞数高于 7q -异常的细胞数。接受化疗的 7例ALL中 4例获得完全缓解 ;13例AML患者中仅 2例获得完全缓解 ;7例MDS患者中 6例转化急性白血病 ;3例CML AP中无 1例缓解。结论 :染色体 - 7/ 7q -异常是恶性血液肿瘤常见的染色体异常 ,在髓系和淋巴细胞中均可出现 ,- 7异常和 7q异常可在同一患者共存 ;具有染色体 - 7/ 7q -异常的患者预后差。     

Genetic testing in the myelodysplastic syndromes: molecular insights into hematologic diversity

The myelodysplastic syndromes (MDS) are associated with a diverse set of acquired somatic genetic abnormalities. Bone marrow karyotyping provides important diagnostic and prognostic information and should be attempted in all patients who are suspected of having MDS. Fluorescent in situ hybridization (FISH) studies on blood or marrow may also be valuable in selected cases, such as patients who may have 5q- syndrome or those who have undergone hematopoletic stem cell transplantation. The MDS-associated cytogenetic abnormalities that have been defined by karyotyping and FISH studies have already contributed substantially to our current understanding of the biology of malignant myeloid disorders, but the pathobiological meaning of common, recurrent chromosomal lesions such as del(5q), del(20q), and monosomy 7 is still unknown. The great diversity of the cytogenetic findings described in MDS highlights the molecular heterogeneity of this cluster of diseases. We review the common and pathophysiologically interesting genetic abnormalities associated with MDS, focusing on the clinical utility of conventional cytogenetic assays and selected FISH studies. In addition, we discuss a series of well-defined MDS-associated point mutations and outline the potential for further insights from newer techniques such as global gene expression profiling and array-based comparative genomic hybridization.     

Cytogenetic disorders in chronic B-cell lymphoid leukemia and their relations with clinicobiological features and prognosis of the disease

AIM: To study a relationship between cytogenetic disorders, clinicobiological characteristics and prognosis in chronic B-cell lymphoid leukemia (B-CLL). MATERIAL AND METHODS: Cytogenetic examination of blood, bone marrow and lymph node cells from 135 patients (90 males and 45 females aged 23-84 years) with chronic B-CLL was made. The patients were followed up from 1 month to 25 years. Before the cytogenetic examination specific therapy was not given. B-CLL was staged by K. Rai, forms--by A.L. Vorobyev and M.D. Brilliant. All the patients have undergone standard cytogenetic examination, FISH with multicolor probe to loci with possible frequent aberrations (del3q14, del11q23, del17p13, trisomia 12), determination of CD38 antigen expression on circulating tumor cells. Mutation status of the genes of immunoglobulins variable region (IgVH) was defined in 61 patients. RESULTS: Del13q14 was detected in 34 cases, del11q23--in 26, trisomia of chromosome 12--in 17 cases, del 17p13--in 8, absence of q-arm of chromosome 13--in 3 cases. 61 patients had no karyotype defects. Three prognostic groups of the patients were identified: favourable prognosis--patients without disorders of karyotype and one chromosomal aberration--del13q14; intermediate prognosis patients with dell1q23 and trisomia of chromosome 12; poor prognosis--patients with del17p13 and complex disorders of karyotype. CONCLUSION. Cytogenetic study help determine prognosis of B-CLL and detect patients in need of early therapy.     

荧光原位杂交技术检测骨髓增生异常综合征患者5、7、8号染色体异常及临床意义

目的用荧光原位杂交（FISH）技术分析骨髓增生异常综合征（MDS）患者的染色体改变及预后。方法用常规细胞遗传学分析和FISH法分析37例MDS患者8、5、7号染色体的异常变化。用SPSS11．5统计软件，对患者的遗传学异常与疾病转归、预后之间关系进行相关性检验。结果检出染色体异常21例（56．8％），其中复杂异常6例（16．2％），8号染色体异常9例（24．3％），-5／5q-异常2例（5．4％），-7／7q-异常2例（5．4％）。平均随访12个月，1例失访，22例存活，14例死亡，12例转变为急性白血病。复杂核型与MDS的急性白血病转化及死亡密切相关；8号染色体三体和-7／7q-与死亡相关。结论FISH能敏感地检测出小克隆的异常，应用多种探针并结合染色体检测能较准确判断MDS患者的预后，异常核型比例高提示预后差。