Application of administrative reconciliation theory in the compliance management of medical institutions / 中华医院管理杂志

Under the background of the comprehensively implementing the rule of law, the construction of legal practice of medical institutions in China is directly related to the sustainable and high-quality development of the medical service industry. However, at present, each medical institution lacked a systematic plan for the construction of legal practice, and the health administrative department mostly implemented the measures of inspection and punishment for illegal practice, which led to the situation that the illegal practice of medical institutions was " investigated but not corrected, and changed but invalid" . This paper creatively put forward the application research of administrative reconciliation theory in the legal practice management of medical and health institutions, for promoting medical and health institutions and medical staff to strengthen legal practice management, standardizing medical behavior, ensuring medical safety, and achieving high-quality development through the institutional incentive and guidance.

Research progress in detection of lung cancer tumor markers by biosensors / 国际生物医学工程杂志

Lung cancer is one of the malignant tumors with the highest morbidity and mortality rate, and effective screening and early diagnosis methods can significantly reduce the morbidity and mortality rate of lung cancer patients. Traditional lung cancer detection methods mainly include imaging tests, sputum cell tests, bronchoscopy, and needle biopsy, but these methods have disadvantages such as being highly invasive, complicated operation processes, prone to false positives, and low detection index. Tumor markers can reflect the occurrence and development of tumors and can monitor the effect of tumor treatment. Therefore, tumor marker detection is of great significance for early cancer diagnosis. Biosensor technology is a new rapid detection technology with promising applications. In recent years, research related to biosensors has been intensified in clinical testing and biomedicine. In this paper, the traditional detection methods for lung cancer were briefly introduced, and the technologies and detection methods related to optical or electrochemical lung cancer tumor marker biosensors based on immunology, nanomaterials, and aptamers were highlighted in recent years, and the future development trend of lung cancer tumor marker biosensors was prospected.

Mechanism of miRNA-1246 targeting MAPK14 in ultraviolet A-induced photoaging of human fibroblasts / 中华皮肤科杂志

Objective:To investigate the miRNA-1246 expression in photoaged human fibroblasts (HSFs) induced by ultraviolet A (UVA) , and to evaluate the effect of upregulating miRNA-1246 expression on its target gene MAPK14 and cell aging.Methods:HSFs were isolated from foreskins of healthy children after circumcision in Children′s Hospital of Soochow University, and irradiated with 10 J/cm 2 UVA once a day for 14 consecutive days. Real-time quantitative PCR was performed to determine the expression of miR-1246 immediately after the first irradiation and on days 3, 7 and 14 after the start of irradiation. Some HSFs were divided into 4 groups: blank control group receiving no treatment, UVA group irradiated with 10 J/cm 2 UVA for 14 days, miR-1246 group transfected with a lentiviral vector carrying miR-1246, and UVA + miR-1246 group transfected with a lentiviral vector carrying miR-1246 followed by irradiation with UVA. After treatment, the HSFs were collected, methyl thiazolyl tetrazolium (MTT) assay was performed to assess cellular proliferativy activity, β-galactosidase staining to detect senescent cells, RT-PCR and Western blot analysis were conducted to measure the mRNA and protein expression of MAPK14 and matrix metalloproteinase 1 (MMP-1) . One-way analysis of variance was used for comparison of means among multiple groups, and least significant difference (LSD) - t test was used for multiple comparisons. Results:On days 7 and 14, the relative expression of miR-1246 in HSFs was significantly lower in the UVA group (4.69 ± 0.85, 3.59 ± 0.45, respectively) than in the blank control group (8.42 ± 0.75, 7.61 ± 0.49, t = 29.84, 31.93, respectively, both P < 0.01) . After upregulation of miR-1246 and irradiation with UVA, MTT assay showed that the cellular proliferative activity significantly differed among the blank control group, UVA group, miR-1246 group, UVA + miR-1246 group (0.82 ± 0.03, 0.23 ± 0.02, 0.81 ± 0.02, 0.61 ± 0.02, respectively; F = 34.90, P < 0.05) , significantly lower in the UVA group than in the blank control group ( t = 28.14, P < 0.01) , lower in the UVA + miR-1246 group than in the miR-1246 group ( t = 10.61, P < 0.01) , but significantly higher in the UVA + miR-1246 group than in the UVA group ( t = 20.30, P < 0.01) . β-Galactosidase staining showed that the proportion of senescent cells significantly differed among the above 4 groups (3.93% ± 1.11%, 81.29% ± 2.53%, 5.50% ± 1.15%, 54.13% ± 2.09%, respectively; F = 16.14, P < 0.05) , significantly higher in the UVA group than in the blank control group ( t = 48.46, P < 0.01) , higher in the UVA + miR-1246 group than in the miR-1246 group ( t = 35.31, P < 0.01) , but significantly lower in the UVA + miR-1246 group than in the UVA group ( t = 14.32, P < 0.01) . Both RT-PCR and Western blot analysis showed that the mRNA and protein expression of MAPK14 and MMP-1 significantly differed among the above 4 groups (both P < 0.05) , significantly higher in the UVA group than in the blank control group ( P < 0.05) , higher in the UVA + miR-1246 group than in the miR-1246 group ( P < 0.05) , but significantly lower in the UVA + miR-1246 group than in the UVA group ( P < 0.05) . Conclusions:In the senescent HSFs induced by UVA, the expression of miR-1246 is suppressed. Upregulating the expression of miR-1246 can exert anti-photoaging effect by inhibiting the expression of its target gene MAPK14 and aging-related protein MMP-1.

The study of 4 cases of myeloid neoplasm with t (5;12) (q33;p13) and the literatures review / 中华血液学杂志

<p><b>OBJECTIVE</b>To report clinical and laboratory features of 4 cases of myeloid neoplasm with t (5;12) (q33;p13).</p><p><b>METHODS</b>Cytogenetic examination of bone marrow cells obtained from patients was performed by 24 h culture method. R banding technical was used for karyotype analysis. PDGFRβ gene rearrangement was detected by FISH using dual color break apart PDGFRβ probe. ETV6-PDGFRβ fusion genes were detected by multiple-reverse transcription polymerase chain reaction (RT-PCR). Direct sequencing analysis was performed on the PCR products in case 1. Immunophenotype analysis was carried out by flow cytometry. Four cases were treated with imatinib (IM) and followed up.</p><p><b>RESULTS</b>The diagnoses included 3 MPN and 1 AML-M2. The t (5;12) (q33;p13) was a primary abnormality in 3 cases of MPN and a secondary abnormality in 1 case of AML-M2. PDGFRβ gene rearrangement and ETV6-PDGFRβ fusion genes were detected by FISH and multiple-RT-PCR in 4 cases, respectively. The immunophenotypical analysis of leukemia cells showed positive for CD13, CD33 and CD34. Two cases obtained MMR after the treatment of IM, one case complete hematologic and complete cytogenetic response. ETV6-PDGFRβ was negative detected by multiple-RT-PCR after the treatment of IM, but relapsed and died soon in case 4.</p><p><b>CONCLUSIONS</b>The t (5;12) myeloid neoplasm was a subtype with unique features. The t (5;12) maybe a primary chromosome abnormality in MPN and a secondary in AML. MPN with t (5;12) could benefit from IM, but not for AML. Dual-FISH was a reliable tool for detecting PDGFRβ rearrangement.</p>

Comparison of ticagrelor versus clopidogrel in effect of bleeding in elderly patients after stenting / 中国生化药物杂志

Objective To compare effect of ticagrelor and clopidogrel on bleeding in elderly patients after stenting.Methods 48 elderly patients after stenting who were diagnosed with acute coronary syndrome in the hospital were collected.All patients were divided into clopidogrel group and ticagrelor group according to different therapy, 24 cases in each group,and were given corresponding drug treatment in each group.After treatment, the platelet inhibition rate, cardiovascular events and bleeding events were observed.Results After treatment, compared with clopidogrel group, the platelet inhibition rate was higher in ticagrelor group(P<0.05), the incidence of cardiovascular events was lower in ticagrelor group (4.16%vs.25.00%;P<0.05), but there was no obvious difference in incidence of bleeding events of ticagrelor group (4.16% vs.8.32%).Conclusion In elderly patients after stent implantation, ticagrelor could inhibit platelet aggregation better than clopidogrel, prevent the occurrence of cardiovascular events, and would not increase the risk of bleeding.

Clinical observation of levosimendan in the treatment of refractory congestive heart failure / 药学实践杂志

Objective To evaluate the efficacy of loading or non loading administration of levosimendan in the treatment of pa -tients with refractory congestive heart failure (RCHF).Methods A randomized, open, control clinical trial was conducted in 40 pa-tients with RCHF.Besides regular treatment , patients in test group ( n=20) were given levosimendan injection with initial loading dose of 6-12 μg/kg for 10 min,followed by a continuous infusion of 0.1 μg/(kg· min).While in control group (n=20), patients were given Levosimendan injection with a continuous infusion of 8.7μg/min for 24 h.Dyspnea, eject fraction(EF),BNP level, blood pressure, heart rate, rhythm of the heart, the function of liver and kidney before and after drug administration were examined .All ad-verse events during the process were recorded .Results The base line showed there was no significant difference between the 2 groups. Dyspnea degree , general clinical condition , BNP, EF values were all improved , compared with those in patients before treatment .Af-ter 30 min of administration, in test group improved dyspnea , decreased systolic and diastolic blood pressure were more greatly than those in control group (P=0.04 and 0.01, respectively).However there were no significant differences of dyspnea degree , decreased BNP, between the 2 groups after administration of 6 h, 24 h, and 72 h.In addition, there was no significant difference in enhanced EF value at 24 h, 72 h between the 2 groups.Conclusion Levosimendan was effective in treating RCHF and could improve hemodynam-ic, degree of dyspnea and decrease BNP , increase EF value.Compared with loading group, non loading administration of levosimendan in the treatment of RCHF was equivalent , safe, and more convenient .

Clinical and genetics characteristics of patients with monosomal karyotype acute myeloid leukemia patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical and genetics characteristics of patients with monosomal karyotype acute myeloid leukemia (MK-AML).</p><p><b>METHODS</b>The karyotypes of 3743 patients with newly-diagnosed de novo AML were analyzed, which had identified 153 cases with MK-AML, for whom the clinical and genetics characteristics were analyzed.</p><p><b>RESULTS</b>There were 2056 patients (54.9%) among all patients. A total of 153 patients fulfilling the criteria for MK-AML were identified, which comprised 93 males and 60 females, with a median age of 54. The median white blood cell count on presentation was 4.4×10 (9)/L. One hundred and forty-five cases (94.8%) have fulfilled the criteria for complex karyotype (≥ 3 chromosomal abnormalities). Although the monosomy could be found with all autosomes, chromosome 7 has been most frequently involved (38.56%, 59/153).</p><p><b>CONCLUSION</b>MK-AML is a distinct cytogenetic subtype of AML. Monosomy 7 is frequently detected among MK-AML patients. The monosomal karyotype is common among elder patients with AML.</p>

A clinical and laboratory study of chronic myeloid leukemia with atypical BCR-ABL fusion gene subtypes / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the clinical and laboratory features of chronic myeloid leukemia (CML) with atypical e14a3 and e19a2 BCR-ABL fusion gene subtypes.</p><p><b>METHODS</b>We retrospectively analyzed a cohort of CML patients with Ph chromosome positive confirmed by cytogenetic and FISH but classical e13a3(b2a2), e14a2(b3a2)and e1a2 fusion transcripts negative identified by conventional real-time quantification RT-PCR (RQ-PCR). Further RQ-PCR was done with the forward primer and reverse primer designed to detect rare atypical BCR-ABL fusion genes including e14a3 and e19a2 transcripts. Direct sequencing analysis was performed on the PCR products and mutations in the BCR-ABL kinase domain were detected. The clinical data of patients were retrospectively analyzed.</p><p><b>RESULTS</b>Six CML patients were found to carry t(9;22) abnormality and BCR-ABL rearrangement confirmed by FISH but classical BCR-ABL fusion genes negative detected by RQ-PCR. Further RQ-PCR and sequencing analysis confirmed the fusion of BCR exon 14 and ABL exon 3 in five CML patients (case 1-5) and the fusion of BCR exon 19 and ABL exon 2 in one CML patient (case 6). E255K and I293T IM-resistant mutations were detected in case 1 and 2, respectively. Among five cases with e14a3 transcripts, four were CML-CP, one CML-AP. Four patients were male and one was female. The median age was 48 years. The patient (case 6) with e19a2 transcripts was 40-year-old female with a diagnosis of CML-CP and PLT count was more than 1 000×10⁹/L. Imatinib (IM) therapy was administer in case 1, 2, 3, 4 and hematopoietic stem cell transplantation (HSCT) was undergone in case 5 after hydroxyurea (Hu) or interferon failure. Case 1 who had E255K IM resistant mutation, responded poorly to IM but obtained a complete cytogenetic remission (CCyR) after a substitution of dasatinib for IM. Case 2 and 3 achieved CCyR 6 months later after IM treatment and had been maintained well with IM despite I293T mutation in case 2. Case 4 attained CCyR 3 months later after IM treatment but relapsed and died soon. Case 5 was still in CCyR after HSCT. Case 6 with e19a2 transcripts got complete hematologic response after Hu treatment and CCyR was achieved soon after IM therapy.</p><p><b>CONCLUSION</b>Incidence of CML with atypical transcripts is extremely low. They could benefit from tyrosine kinase inhibitors or HSCT. Rare and atypical BCR- ABL fusion gene subtypes could be missed by conventional RQ-PCR.</p>

A clinical and laboratory study on acute myeloid leukemia with t(6;9)(p23;q34) / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the clinical and laboratory features of 6 cases of acute myeloid leukemia (AML) with t(6;9)(p23;q34).</p><p><b>METHODS</b>Chromosome preparation of bone marrow cells was performed with regular method. R-banding by heating using Giemsa banding technique (RHG) was used for karyotype analysis. The immunoprofile was studied by flow cytometry (FCM) using a panel of monoclonal antibodies. Chromosome painting was performed by using whole chromosome paint probes for chromosomes 6 and 9 in all the 6 cases. The expression of fusion gene DEK/CAN and FLT3-ITD mutation were analyzed by reverse transcription-PCR(RT-PCR).</p><p><b>RESULTS</b>The t(6;9)(p23;q34) was found in all the 6 cases including 4 cases of M2 and 2 cases of M4. Blast cells were positive for CD13 and CD33 in 6 patients, for HLA-DR in 4 patients, for CD34 and CD117 in 3 cases, for CD38 or CD15 each in 1 case, respectively. A reciprocal translocation between chromosome 6 and 9 was confirmed by chromosome painting technique in the 6 cases. The DEK/CAN fusion gene was found in all the 6 cases, FLT3-ITD mutation was detected in three of them. Follow-up showed that 3 patients died with a survival time of 3 months, 5 months and 6 months, respectively. The other three obtained complete remission and are still alive.</p><p><b>CONCLUSION</b>The t(6;9)(p23;q34) is a rare recurrent abnormity. AML with t(6;9)(p23;q34) has unique clinical and laboratory features and its prognosis is poor in most cases.</p>

Chromosome study on chronic lymphocytic leukemia using CpG-oligodeoxynucleotide as immunostimulant agent / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate whether CpG-oligodeoxynucleotide (CpG-ODN) can improve the detection rate of the karyotypic abnormalities in chronic lymphocytic leukemia (CLL).</p><p><b>METHODS</b>The bone marrow (BM) or peripheral blood (PB) cells from 57 cases of CLL were collected and cultured with CpG-ODN DSP30+interleukin-2 (IL-2), phytohemagglutinin (PHA), pokeweed (PWM) or IL-2, respectively. Five days later cells were harvested for chromosome preparation. Karyotypic analysis was done using R banding technique. Panel fluorescence in situ hybridization (FISH) was carried out on 19 cases of CLL with normal karyotypes using the following probes: Cen12, D13S25, Rb1, ATM, p53, MYB and IgH. Genomic DNA from 21 cases of them was extracted from BM or PB leukocytes. The immunoglobulin variable heavy chain (IgVH) was amplified by polymerase chain reaction (PCR) and sequenced. CD38 and ZAP70 expressions in the leukemic cells were determined by flow cytometry (FCM).</p><p><b>RESULTS</b>The detection rate of karyotypic abnormalities in the CpG-ODN+IL-2 group (43.85%) was obviously higher than that in the PHA (15.09%), PWM (17.31%) and IL-2 (3.13%) groups (P<0.01). Fifty-two types of karyotypic abnormalities were found. Among them, trisomy12 (+12) or +12 with other abnormalities were the most common, while translocations were the most frequent structural abnormalities including 3 unbalanced and 11 balanced translocations, among them 7 had rearrangements involving 14q32. Thirteen cases showed one or more abnormalities on FISH including trisomy 12 and p53 deletion each in one case, IgH rearrangement and partial deletion each in one case, 13q14.3 deletion in 11 cases of which 5 cases also had Rb1 deletion, 1 case had Rb1 partial deletion. No case with ATM or MYB deletions was found. PCR detected IgVH mutations in 10/21 cases. FCM showed 10/45 cases were CD38 positive, but 35 /45 were CD38 negative, 11/27 cases expressed ZAP70, but 16/27 did not. Among the 26 cases examined for CD38 and ZAP70 expressions simultaneously, 5 cases were CD38+ZAP70+, 13 were CD38-ZAP70-, 6 were CD38-ZAP70+, and 2 were CD38+ZAP70-, respectively. Statistic analysis showed a correlation between complex karyotype and IgVH without mutation, but no association between karyotype and CD38 or ZAP70 expression was observed.</p><p><b>CONCLUSION</b>CpG-ODN immunostimulation can obviously raise the detection rate of abnormal karyotypes, especially translocations in CLL. FISH is an important complement to conventional karyotypic analysis. The combination of both methods can provide more comprehensive genetic information for CLL.</p>

Efficiency and distribution of gene delivery to the injured tendons by microinjection and tissue re-actions caused by vectors / 中华创伤杂志

Objective To investigate efficiency and distribution of gene delivery to the injured tendons by microinjeetion and tissue reactions caused by different vectors. Methods By using a mi-croinjection technique, 10μl of pCMV-EGFP, pCAGGS-EGFP, AAV2-EGFP and Ad5-EGFP harboring enhanced green fluorescence protein (EGFP) gene were respectively injected to two sites of the proximal stump of 48 transected digital flexor tendons in 18 chickens. At days 3, 7, 14 and 21, the tendons wereharvested for observing distribution and expression of EGFP under a fluorescence microscope by using fro-zen tissue sections. The tendon sections were also stained with hematoxylin and eosin to examine inflam-mation caused by these vectors. The other 24 normal flexor tendons were served as controls. ResultsCompared with normal tendon tissues, the EGFP expression was observed in tendons at days 3, 7, 14 and21 after injection. The EGFP expression was observed at day 3 and reached peak at day 7 for all vectors.The EGFP expression was decreased at day 14 but seldom seen at day 21. EGFP was distributed evenly inthe injected tendon segment adjacent to the cut level. The EGFP expression in the tendons injected withAAV2-EGFP and Ad5-EGFP was higher than that with pCMV-EGFP and pCAGGS-EGFP injection, withinsignificant statistical difference upon the EGFP expression between AAV2-EGFP and Ads-EGFP vec-tors. Tissue reactions of the tendons caused by the liposome-plasmid vector ( including pCMV-EGFP and pCAGGS-EGFP) were the most prominent among all vectors. Infiltration of inflammatory cells, chiefly lymphocytes and neutrophilic granulocytes, were found. The tendons injected with AAV2 vectors presen-ted gentle inflammatory reactions. Conclusions Mieroinjection to two sites of each tendon stump deliv-ers the transgene to the entire tendon segment adjacent to the cut. Gene delivery by the AAV2 and Ad5 vectors has the highest cfficiency among four vectors tested, when expression level peaks at day 7 after in-jection and AAV2 vector causes the slightest tissue reactions in the tendons, indicating that the AAV2 vector is a promising gene delivery vector and microinjection is practical for tendon gene therapy.

Simultaneous presence of ins (15;17),t(2;17;20) and trisomy 8 in a patient with acute promyelocytic leukemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report a rare complex karyotypic abnormalities including ins (15;17),t(2;17;20) and trisomy 8 in a patient with acute promyelocytic leukemia (APL).</p><p><b>METHODS</b>Chromosomes were prepared after 24 h culture of bone marrow cells. R-banding technique was used to analyze the karyotype. Multiplex fluorescence in situ hybridization (M-FISH), chromosome painting using whole chromosome parint (WCP) 2, 15, 17 and 20 and interphase-FISH (I-FISH) using PML-RARa dual-colour dual-fusion translocation probe were performed to ascertain the essence and origin of the abnormal chromosomes detected by conventional karyotypic analysis.</p><p><b>RESULTS</b>Karyotypic analysis revealed a karyotype of 47, XY, 2q-, + 8, 17q+ , 20p+ . M-FISH analysis showed a karyotype of 47, XY, t(2;17;20) (q24;q21;p13), + 8, which was confirmed by chromosome painting. PML-RARa fusion gene which lied in the derivative chromosome 15 was detected by I-FISH suggesting a cryptic insertion (15;17)(q22;q21.1q21.3).</p><p><b>CONCLUSION</b>FISH is a reliable method for characterization of cryptic ins (15;17) and other complex translocations. It should be used in all suspected APL patients lacking t(15;17) by conventional karyotypic analysis.</p>

Detection of common chromosome abnormalities in myelodysplastic syndrome with a panel fluorescence in situ hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the value of a panel fluorescence in situ hybridization (FISH) in the detection of common chromosome abnormalities in myelodysplastic syndrome (MDS).</p><p><b>METHODS</b>Twenty cases of MDS patients, whose karyotypes were unknown by the FISH examiner beforehand, were analyzed with a panel FISH using YAC248F5 (5q31), YAC938G5 (7q32), CEP8 and YAC 912C3 (20q12) probes to detect the frequently occurring chromosome abnormalities (-5/5q, -/7q-, +8, 20q-) in MDS. Then the results were compared to those of conventional cytogenetics (CC).</p><p><b>RESULTS</b>Among 20 cases, 13 cases were found to carry common chromosome abnormalities by panel FISH (trisomy 8, five cases; -5/5q-, one case; 20q-, five cases; 5q- accompanying 20q-, one case; complex abnormalities, one case). However, on CC examination, only five cases were found to have common chromosomal abnormalities (20q-, four cases; 5q- accompanying 20q-, one case). In addition, trisomy 21, marker chromosome and complex abnormalities comprising -5, -7 and marker chromosomes were seen in one case each, the rest were normal.</p><p><b>CONCLUSION</b>Panel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.</p>

Clinical and experimental studies on five cases of acute myeloid leukemia with translocation t(16;21)(p11;q22) / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report five cases of acute myeloid leukemia (AML) with t(16;21)(p11;q22) translocation and the result of chromosome painting analysis on one of them.</p><p><b>METHODS</b>Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was made by R-banding technique. Chromosome painting was performed using whole chromosome probes 16 and 21 in 1 case.</p><p><b>RESULTS</b>Karyotype analysis showed identical translocation t(16;21)(p11;q22) in all five cases, accounting for 0.3% of 1448 cases of acute myeoid leukemia examined in the past fifteen years. Moreover, chromosome painting distinctly demonstrated t(16;21) in one of them. Leukemia blasts did not show hemophagocytosis in all of them.</p><p><b>CONCLUSION</b>t(16;21) translocation is a rare and recurring chromosome rearrangement. It represents a specific type of AML. Chromosome painting technique is a more reliable means for detecting it, compared with the conventional karyotype analysis.</p>

Clinical, cytogenetic and dual-color FISH studies on five cases of myelodysplastic syndrome or acute myeloid leukemia patients with 1;7 translocation / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To study the clinical and cytogenetic characteristics of four patients with myelodysplastic syndrome (MDS) and one with acute myeloid leukemia experiencing t (1;7).</p><p><b>METHODS</b>Five patients seen in our hospital from 1992 to 2001 were diagnosed as MDS and acute myelocytic leukemia (AML) according to the French-American-British (FAB) criteria. Chromosomes were prepared using the direct method as well as 24-hour unstimulated cultures of fresh heparinized bone marrow for each subject, while R-banding was used to analyze karyotypes. Dual-color fluorescence in situ hybridization (FISH) using SpectrumRed and SpectrumGreen directly labeled chromosome 1-specific alpha-satellite DNA probe (red) and chromosome 7- specific alpha-satellite DNA probe (green) was performed for three cases.</p><p><b>RESULTS</b>Of the five patients, three had 1;7 translocation due to a long history of exposure to benzene. In three cases, dual-color FISH resulted in three red signals and two green ones, in which one red signal adjoining one green signal in 27.6%, 84% and 18.5% metaphases, respectively.</p><p><b>CONCLUSIONS</b>Exposure to benzene may be the cause for Chinese MDS and AML patients with t (1;7) translocation. The result of dual-color FISH convincingly confirmed that the centromere of the derivative chromosome 7p/1q resulting from 1;7 translocation was made up of centromeres from both chromosomes 1 and 7.</p>

Detection of inv (16) in acute myelomonocytic leukemia by interphase fluorescence in situ hybridization / 中华血液学杂志

<p><b>OBJECTIVE</b>To evaluate fluorescence in situ hybridization (FISH) in the detection of inv (16) (p13; q22).</p><p><b>METHODS</b>Spectrum red labeled yeast artificial chromosome (YAC) clone 854E2 which spans the breakpoint cluster region in MYH11 in band 16p13 and single color interphase FISH were used to detect inv (16) in 26 cases of acute myelomonocytic leukemias (AML-M(4)), and the results were compared with that of conventional cytogenetic analysis.</p><p><b>RESULTS</b>R banding karyotyping test revealed no inv (16) in 25 cases, one AML M(4Eo) case showed inv (16) by G banding. Nine cases including all three M(4Eo) had inv (16) by FISH analysis, among whom the characteristic fluorescence signal pattern of the inv (16) was seen in 13.3% to 32.1% (median, 21.3%) of the tested cells.</p><p><b>CONCLUSION</b>YAC 854E2 and interphase FISH provide a powerful technique in the detection of inv (16) (p13q22).</p>

Clinical and cytogenetic studies of hematological malignancies with isolated trisomy 11 / 中华血液学杂志

<p><b>OBJECTIVE</b>To evaluate the association between isolated trisomy 11 and the clinical, hematological, immunological, prognostic aspects in hematological malignancies.</p><p><b>METHODS</b>Bone marrow cell cytogenetic analysis was performed by direct method and/or 24 h culture method. RHG banding was used for karyotype analysis. Immunophenotype analysis was carried out by flow cytometry. Ten patients with acute myeloid leukemia (AML) were treated with HA regimen chemotherapy and followed up.</p><p><b>RESULTS</b>The isolated trisomy 11 was found in 11 of 1 * ! 763 hematological malignancies cases (0.6%). The diagnoses included 10 AML (6 M(2), 2 M(5), 1 M(1), 1 M(4)), and 1 myelodysplastic syndromes. Ten of them have no hepatosplenomegaly. The immunophenotypical analysis of leukemia cells showed positive for CD(13), CD(33) and CD(34) in 5 cases. Follow-up data were available in 10 cases. The complete remission rate was 40% with a median survival of 10 months.</p><p><b>CONCLUSION</b>The isolated trisomy 11 was mainly seen in AML, especially in M(2) subtype. Their prognosis was poor.</p>

Clinical and experimental study of two cases of myelodysplastic syndrome with t(3; 5) (q25; q34) translocation / 中华血液学杂志

<p><b>OBJECTIVE</b>To report two myelodysplatic syndromes (MDS) patients with t(3; 5) (q25; q34).</p><p><b>METHODS</b>Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was performed by R banding technique, chromosome painting (fluorescence in situ hybridization, FISH) by using whole chromosome 3 and 5 probes in case 1.</p><p><b>RESULTS</b>The clinical and hematological findings were compatible with diagnosis of MDS. Karyotype analysis showed that both patients had identical t(3; 5) (q25; q34) translocation. A reciprocal translocation between chromosomes 3q and 5q was proved by FISH in one patient.</p><p><b>CONCLUSIONS</b>t(3; 5) translocation is a rare chromosome abnormality specifically associated with MDS and frequently displays trilineage dysplasia. Chromosome painting technique is a reliable tool for detecting this translocation.</p>

A preliminary study on the early diagnosis of myelodysplastic syndromes / 中华血液学杂志

<p><b>OBJECTIVE</b>To evaluate the four techniques for clonal analysis in the early diagnosis of myelodysplastic syndromes (MDS).</p><p><b>METHODS</b>Four techniques for clonal analysis were performed in bone marrow samples from fifty patients with suspected MDS: (1) Conventional cytogenetics (CC) for clonal chromosomal abnormalities; (2) BrdU-sister chromatid differentiation (BrdU-SCD) for cell cycle analysis; (3) Fluorescence in situ hybridization (FISH) for trisomy 8; (4) PCR-SSCP for N-ras mutation.</p><p><b>RESULTS</b>The diagnosis of forty-five patients was compatible with FAB criteria of MDS, the other five patients didn't fully meet the FAB criteria. They had either only one lineage dyspoiesis or no any obvious dysplastic features and two of them were diagnosed as suspicious refractory anemia (RA), one as anemia with hypercellular bone marrow and two as chronic aplastic anemia. The results of the four techniques performed in them showed that four patients had clonal karyotype abnormalities, two had prolonged cell cycle, three had trisomy 8 of different proportions, and one had N-ras mutation. Thus, they were all diagnosed as RA.</p><p><b>CONCLUSION</b>The untypical MDS patients can be diagnosed early by examination with combining several clonal analysis techniques.</p>

Dual-color FISH study on myelodysplastic syndrome with 1;7 translocation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the myelodysplastic syndrome(MDS) with 1;7 translocation in five cases and to determine further the constitution and origin of centromere of the derivative chromosome resulting from 1;7 translocation.</p><p><b>METHODS</b>Bone marrow chromosome preparation of five cases was made using direct method or short- term culture. Karyotypic analysis was carried out by R-banding technique. Dual-color fluorescence in situ hybridization(FISH) using Spectrum Red and Spectrum Green directly labeled chromosome 1-specific a-satellite DNA probe(red) and chromosome 7-specific a-satellite DNA probe(green) was performed in three patients of them.</p><p><b>RESULTS</b>All of the five cases had 1;7 translocation. The centromere of the derivative chromosome 7p/1q was constituted with red and green signals in three of them.</p><p><b>CONCLUSION</b>The result of dual-color FISH confirms that the centromere of the derivative chromosome resulting from 1;7 translocation originated from both centromeres of chromosome 1 and chromosome 7.</p>