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1.
Psychol Res Behav Manag ; 13: 653-663, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32848482

RESUMEN

PURPOSE: This study investigated how an individual's time perspective of the present and the future affects the delay of gratification, using the construal level theory. In addition, the mechanisms that influence the time perspective on the delay of gratification were examined through the mediating roles of the psychological distance and the perceived possibility of getting a future reward. PARTICIPANTS AND METHODS: One hundred twenty university students completed the Korean version of the Swedish Zimbardo Time Perspective Inventory (S-ZTPI) and performed a Temporal Discounting task to aid in the evaluation of their ability to delay gratification. Their psychological distance to the future and perceived possibility of getting a future reward were measured using the visual analogue scale. RESULTS: The results showed that once the Present-Hedonistic and Future-Negative from among the six-time perspectives increased, and the ability to delayed gratification decreased. On the other hand, once the Future-Positive time perspective increased, the ability to delayed gratification increased. Only the psychological distance for 9 months was associated with time perspective and the mediation effect was not significant. Present-Hedonistic time perspective negatively predicted the perceived possibility of getting a future reward and the delay of gratification. The perceived possibility of getting a future reward fully mediated the relation between the Future-Negative time perspective and the delay of gratification. CONCLUSION: These findings suggest that problems involved with the delay of gratification (such as smoking, addiction, and binge eating behavior) are more likely to occur in people who have high Present-Hedonistic and Future-Negative time perspectives, because these time perspectives lead to a lower perceived possibility of getting a future.

2.
J Clin Lab Anal ; 29(1): 28-31, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24687901

RESUMEN

BACKGROUND: CoaguChek XS is one of the most widely used point-of-care (POC) devices to evaluate prothrombin time for monitoring oral anticoagulant therapy. Unlike laboratory methods, it detects electrical signals produced by thrombin activity to derive the international normalized ratio (INR). Therefore, we hypothesized that laboratory methods and CoaguChek XS could produce different results according to fibrinogen level. METHODS: We compared INR values obtained from the CoaguChek XS and conventional laboratory method with 91 plasma samples covering a wide range of fibrinogen levels. RESULTS: The samples were stratified into low, mid, and high fibrinogen groups by fibrinogen levels of <130 mg/dl, 130-450 mg/dl, and >450 mg/dl, respectively. The mean INR difference of the low fibrinogen group was significantly different from that of the mid or high fibrinogen group (P < 0.001). In the low fibrinogen group, CoaguChek XS INR showed a negative bias compared with the laboratory INR, while the mid and high fibrinogen groups had positive bias. CONCLUSION: Our results suggest that patient selection according to fibrinogen status should precede the implementation of POC testing using CoaguChek XS. Also, periodic comparisons between CoaguChek XS and laboratory INR results should be continued during the use of CoaguChek XS.


Asunto(s)
Fibrinógeno/metabolismo , Sistemas de Atención de Punto/normas , Tiempo de Protrombina/métodos , Análisis de Varianza , Coagulación Sanguínea/efectos de los fármacos , Humanos , Relación Normalizada Internacional , Reproducibilidad de los Resultados
3.
Ann Clin Lab Sci ; 44(3): 254-61, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25117092

RESUMEN

LABGEO(IB) D-dimer Test is a newly developed POC D-dimer assay and the first commercially available POC immunoassay instrument that exploits the disk rotation method for extraction of plasma. Citrate plasma was obtained from 201 apparently healthy subjects and 91 patients suspected for VTE, and their D-dimer level was measured by the LABGEO(IB) D-Dimer Test (LABGEO D-dimer) and HemosIL D-dimer test as a comparative method. To examine the effect of blood cells and anticoagulant, paired blood samples anticoagulated by heparin and citrate were obtained from various postoperative patients. The overall diagnostic performance of LABGEO(IB) D-dimer and HemosIL was comparable with similar area under ROC curve (p=0.79). The cut-off levels recommended by manufacturers (LABGEO D-dimer: 0.45 µg/ml fibrinogen equivalent unit (FEU), HemosIL: 0.23 µg/ml D-dimer unit (DDU)) and those yielding highest diagnostic efficiency (LABGEO D-dimer: 1.41 µg/ml FEU; HemosIL: 0.85 µg/ml DDU), were chosen for the evaluation. For LABGEO D-dimer negative predictive value (NPV), positive predictive value (PPV), sensitivity, specificity, and negative likelihood ratio (LR-neg) were 93-100%, 67-89%, 93-100%, 53-89% and 0.00-0.08. For HemosIL D-dimer, NPV, PPV, sensitivity, specificity and LR-neg were 90 - 100%, 76-95%, 89-100%, 70-96% and 0.00-0.12, all comparable to results for LABGEO D-dimer. LABGEO D-dimer test demonstrated acceptable performance when used for the VTE diagnostic work-up.


Asunto(s)
Análisis Químico de la Sangre/métodos , Tromboembolia Venosa/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Dimerización , Femenino , Humanos , Inmunoensayo , Lactante , Masculino , Persona de Mediana Edad , Sistemas de Atención de Punto , Estándares de Referencia , Sensibilidad y Especificidad , Tromboembolia Venosa/sangre
4.
Clin Chim Acta ; 434: 11-5, 2014 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-24769249

RESUMEN

BACKGROUND: Mean corpuscular volume (MCV) of stabilized whole blood used for quality control (QC) of hematology analyzers exhibits a tendency to increase during storage. The aim of this study is to evaluate the extent of biases over time with 3 most widely used control materials and to map out a strategy to overcome the data shift of MCV on daily QC practice. METHODS: QC results of TESTPoint tested by ADVIA 2120i, e-CHEK tested by XE 2100, and 6C Cell Control tested by DxH 800 were analyzed. RESULTS: MCV of all control materials showed a tendency to increase over time. By the fifth week, most of the materials showed biases larger than one standard deviation, with some exceeding a bias of four standard deviations. CONCLUSIONS: Laboratories should apply appropriate QC strategies in MCV tests by considering their individual quality and efficiency requirements.


Asunto(s)
Conservación de la Sangre , Índices de Eritrocitos , Automatización , Reacciones Falso Negativas , Reacciones Falso Positivas , Humanos , Control de Calidad , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Manejo de Especímenes
5.
Thromb Res ; 132(6): 692-5, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24140451

RESUMEN

INTRODUCTION: Dysregulated platelet-endothelial interaction plays a pivotal role in atherothrombotic events in patients with diabetes mellitus (DM). Immature platelet fraction (IPF) is a hematologic parameter of automated hematologic analyzer and is related to platelet size and cytoplasmic RNA contents. It reflects thrombopoiesis and also is often used as the marker of platelet activity. MATERIAL AND METHODS: We compared peripheral blood IPF, IPF count (IPC), and mean platelet volume (MPV) of DM and metabolic syndrome (MetS) patients with those of healthy controls. The IPF, IPC, MPV, and other blood cell indices were measured. RESULTS: The DM group had significantly higher IPF (2.20 vs. 1.70%, P=.020), IPC (4.80 vs. 4.60×10(9)/L, P=.043), and MPV (10.35 vs. 10.00fL, P=.012) than the control group. Those markers were also increased in MetS patients, but the differences were not statistically significant. Interestingly, when DM patients were stratified according to glycemic control status (≤6.5% HbA1c vs. 6.6-7.9% HbA1c vs. ≥8% HbA1c), both IPF and IPC were significantly increased in poor glycemic control group (P=.014 and .003). Including various diabetic complications in the analysis, IPF was higher in DM patients complicated by cardiovascular disease than the DM group without cardiovascular disease. CONCLUSION: IPF is elevated in patients with diabetes and associated with poor glycemic control and cardiovascular complication.


Asunto(s)
Plaquetas/metabolismo , Diabetes Mellitus/sangre , Síndrome Metabólico/sangre , Plaquetas/patología , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad
6.
Arch Pathol Lab Med ; 136(11): 1408-13, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23106587

RESUMEN

CONTEXT: In the clinical laboratory, it is important both to reduce the number of peripheral blood slide reviews to save time and money and to avoid reporting false results. OBJECTIVE: To determine differences in the slide review rates of 3 widely used automated hematologic analyzers, the Unicel DxH 800 (Beckman Coulter Inc, Fullerton, California), ADVIA 2120i (Siemens Diagnostics, Tarrytown, New York), and XE 2100 (Sysmex, Kobe, Japan), using International Consensus Group for Hematology Review guidelines. DESIGN: A total of 1485 samples were tested, and 300 were manually reviewed. Slide review rates, sensitivity, specificity, and false-positive and false-negative rates were estimated using consensus group rules and compared using χ(2) tests, Fisher exact tests, or generalized estimating equations. RESULTS: Unicel DxH 800, ADVIA 2120i, and XE 2100 showed 22.8%, 20.2%, and 28.6% slide review rates; 14.3%, 14.3%, and 9.7% false-negative rates; and 13.7, 11.3%, and 17.3% false-positive rates, respectively. All analyzers showed significantly higher false-negative rates than that of the consensus group (2.9%). CONCLUSIONS: False-negative rates were higher than the recommended levels. Among 3 automated hematologic analyzers, XE 2100 showed the highest rate of slide review. Because the present study clearly shows that the slide review rates have distinct characteristics among the studied analyzers, each individual laboratory should consider selecting the most appropriate analyzer according to clinical characteristics. Analyzers with high sensitivity may be advantageous in outpatient settings for screening patients, whereas analyzers with high specificity may be beneficial in inpatient settings for efficient patient care.


Asunto(s)
Recuento de Células Sanguíneas/instrumentación , Recuento de Células Sanguíneas/normas , Recuento de Células Sanguíneas/estadística & datos numéricos , Reacciones Falso Negativas , Reacciones Falso Positivas , Humanos , Guías de Práctica Clínica como Asunto , Sensibilidad y Especificidad
7.
Ann Lab Med ; 32(1): 95-8, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22259787

RESUMEN

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (mFISH) demonstrated the involvement of the BCL1/CCND1 locus in a complex translocation, t(3;11)(q25;p15)t(11;14)(q13;q32). In addition, subclonal abnormalities in the 8q24 region, manifested as a t(8;14)(q24;q32)/MYC rearrangement, were identified. To the best of our knowledge, this is the first MCL case in Korea bearing these complex genomic aberrations.


Asunto(s)
Antígenos CD5/metabolismo , Linfoma de Células del Manto/diagnóstico , Proteínas de Fusión Oncogénica/genética , Proteínas Proto-Oncogénicas c-myc/genética , Anciano de 80 o más Años , Médula Ósea/inmunología , Médula Ósea/metabolismo , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 3 , Reordenamiento Génico , Humanos , Inmunofenotipificación , Hibridación Fluorescente in Situ , Linfoma de Células del Manto/genética , Linfoma de Células del Manto/inmunología , Masculino , Translocación Genética
8.
J Clin Pathol ; 63(11): 1027-31, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20870658

RESUMEN

AIMS: The authors aimed to identify the correlation between quantitative hepatitis B surface antigen (HBsAg) and hepatitis B virus (HBV) DNA in Korean patients with a high level of HBsAg (>250 IU/ml) and characteristics of patients for whom quantitative HBsAg can be more suitably used to monitor HBV infection. METHODS: Quantitative HBsAg and HBV DNA were measured in collected sera from 565 patients with a high level of HBsAg (>250 IU/ml). The correlation between HBsAg and HBV DNA was analysed by Spearman rank test. We also retrospectively analysed the correlation according to the HBV infection phase in which quantitative HBsAg is more appropriate to be used in clinical practice. RESULTS: The overall correlation between quantitative HBsAg and HBV DNA was significant but very weak (Spearman ρ=0.121, p=0.004). Weak correlations were also noted in chronic hepatitis B patients (ρ=0.123, p=0.019) and in patients with hepatocellular carcinoma (ρ=0.328, p=0.002). No correlation was noted in liver cirrhosis patients (ρ=0.156, p=0.095). Relatively higher correlation was noted in hepatitis B e antigen positive patients without antiviral treatment and patients with a high HBV DNA to HBsAg ratio (>57.93). CONCLUSIONS: There was a weak correlation between quantitative HBsAg and HBV DNA. However, quantitative HBsAg appears to be more useful to reflect HBV DNA in the early replicative phase of chronic hepatitis B patients than those in the late non-replicative phase.


Asunto(s)
ADN Viral/sangre , Antígenos de Superficie de la Hepatitis B/sangre , Virus de la Hepatitis B/aislamiento & purificación , Hepatitis B Crónica/diagnóstico , Adulto , Antivirales/uso terapéutico , Carcinoma Hepatocelular/virología , Femenino , Antígenos e de la Hepatitis B/sangre , Virus de la Hepatitis B/genética , Hepatitis B Crónica/tratamiento farmacológico , Humanos , Cirrosis Hepática/virología , Neoplasias Hepáticas/virología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
10.
Diagn Microbiol Infect Dis ; 67(2): 198-201, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20338708

RESUMEN

A(-)B(+)Clostridium difficile strains are prevalent in Korea. We performed pulsed-field gel electrophoresis (PFGE), polymerase chain reaction ribotyping, and toxinotyping in 82 A(-)B(+) clinical isolates in Korea. PFGE showed highest discriminatory capability among the 3 methods. By PFGE, persistence of a clone was found, suggesting this clone has adapted to the hospital environment.


Asunto(s)
Proteínas Bacterianas/genética , Toxinas Bacterianas/genética , Clostridioides difficile/clasificación , Clostridioides difficile/aislamiento & purificación , Enterocolitis Seudomembranosa/microbiología , Enterotoxinas/deficiencia , Técnicas de Tipificación Bacteriana , Clostridioides difficile/genética , Análisis por Conglomerados , Dermatoglifia del ADN , Electroforesis en Gel de Campo Pulsado , Genotipo , Hospitales , Humanos , Corea (Geográfico) , Epidemiología Molecular , Ribotipificación
11.
Ann Clin Lab Sci ; 39(4): 392-8, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19880768

RESUMEN

Therapy-related myelodysplastic syndrome and acute leukemia after treatment with temozolomide have rarely been described in the literature. Only 10 cases in association with temozolomide have been documented. The cases included anaplastic astrocytoma (4 cases), anaplastic oligodendroglioma (2 cases), low grade astrocytoma (2 cases), low grade oligodendroglioma (1 case), and one case of secondary Philadelphia-positive acute lymphoblastic leukemia in a patient with glioblastoma multiforme. Here we report a novel case of therapy-related myelodysplastic syndrome/acute myeloid leukemia associated with der(1;7)(q10;p10) in a glioblastoma multiforme patient treated with temozolomide. Results of bone marrow morphology, chromosome, and fluorescent in situ hybridization (FISH) analyses, as well as the clinical history, strongly suggest a treatment-related etiology in our case. In past reports, karyotypes in cases of therapy-related myelodysplastic syndrome/acute myeloid leukemia mostly demonstrated abnormalities in chromosomes 5 and 7. However, we report a case of temozolomide-related myelodysplastic syndrome/acute myeloid leukemia with der(1;7)(q10;p10), possibly the first reported case, to the authors' knowledge.


Asunto(s)
Dacarbazina/análogos & derivados , Glioblastoma/tratamiento farmacológico , Leucemia Mieloide Aguda/inducido químicamente , Síndromes Mielodisplásicos/inducido químicamente , Adulto , Anciano , Biopsia , Células de la Médula Ósea/patología , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/patología , Dacarbazina/efectos adversos , Dacarbazina/uso terapéutico , Progresión de la Enfermedad , Femenino , Glioblastoma/patología , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Leucemia Mieloide Aguda/complicaciones , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/complicaciones , Piel/patología , Temozolomida
12.
Cancer Genet Cytogenet ; 189(2): 127-31, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19215795

RESUMEN

A 1q triplication is a rare karyotypic event in hematologic malignancies, with 26 cases of 1q triplication reported in the literature. Although 1q duplication or triplication is present with a high incidence in Burkitt lymphoma and Fanconi anemia, there have been no detailed reports of an association between non-Burkitt type lymphomas and 1q triplication. Presented here is the case of a 69-year-old man with follicular lymphoma (FL) and 1q triplication, with a review of the pertinent literature. The patient was diagnosed with FL with bone marrow involvement; his bone marrow chromosome study revealed 50,XY,trp(1)(q21q32),+3,+add(3)(q21),+7,+9,add(13)(p11.2)[11]/51 approximately 52,idem,+19,+22[8]/46,XY[3]. Review of the Mitelman Database of Chromosome Aberrations in Cancer revealed 7 previous cases of non-Burkitt type lymphoma (including FL) with 1q triplication. On the basis of these eight cases, we conclude that 1q triplication represents a rare secondary genetic event with prognostic significance in patients with FL or other non-Burkitt types of lymphoma. Further studies are needed to investigate these rare 1q triplication in hematologic malignancies.


Asunto(s)
Cromosomas Humanos Par 1 , Linfoma Folicular/genética , Secuencias Repetidas en Tándem , Anciano , Análisis Citogenético , Duplicación de Gen , Humanos , Masculino , Trisomía
13.
Cancer Genet Cytogenet ; 189(2): 132-7, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19215796

RESUMEN

The role of BCR/ABL isoforms and their relationship to leukemia phenotype have been of major concern. Atypical BCR/ABL mRNA transcripts lacking exon a2 have been reported in 12 cases of acute lymphoblastic leukemia (ALL) to date; among them, a b3a3 type transcript has been reported only once in the childhood ALL. Reported here is the case of a patient with Philadelphia-positive (Ph(+)) ALL expressing a b3a3 type transcript, a rare type of BCR/ABL mRNA lacking ABL exon a2 sequences. Bone marrow showed a hypercellular marrow with leukemic blasts positive for CD10, CD19, CD79a, and cytoplasmic mu, which is consistent with pre-B ALL. The G-banding and fluorescence in situ hybridization analyses indicated Ph(+). After the patient was diagnosed with ALL-L2, induction chemotherapy was performed and imatinib mesylate was thereafter given as the maintenance therapy. Sequencing analysis showed deletion of ABL a2 in the polymerase chain reaction product, which corresponded to a b3a3 fusion transcript. To our knowledge, this is the second report of an aberrant BCR/ABL product lacking ABL exon a2 in childhood ALL.


Asunto(s)
Proteínas de Fusión bcr-abl/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Secuencia de Bases , Niño , Cromosomas Humanos Par 22 , Cromosomas Humanos Par 9 , Análisis Citogenético , Análisis Mutacional de ADN , Exones/genética , Proteínas de Fusión bcr-abl/metabolismo , Humanos , Masculino , Datos de Secuencia Molecular , Mutación , Leucemia-Linfoma Linfoblástico de Células Precursoras/metabolismo , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , ARN Mensajero/genética , Translocación Genética
14.
Cancer Genet Cytogenet ; 188(1): 48-51, 2009 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-19061780

RESUMEN

A 32-year-old pregnant woman in the 13th gestational week was brought to Severance Hospital with gum bleeding and easy bruising. Initial laboratory results revealed anemia and thrombocytopenia. In a peripheral blood smear, 81% of leukocytes were large, abnormal promyelocytes. Bone marrow aspiration showed a hypercellular marrow with packed leukemic promyelocytes, and chromosome study revealed a karyotype of 46,XX,t(15;17)(q22;q21)[10]/46,XX[10]. In addition, variant fusion transcripts of PML/RARA were detected in the marrow specimen. The patient was diagnosed with acute promyelocytic leukemia (APL) and was treated with all-trans retinoic acid (ATRA) and idarubicin. One month from the patient's initial diagnosis a follow-up bone marrow examination was performed, revealing complete remission (CR). We know of no previous reports of APL during pregnancy associated with variant PML/RARA fusion transcripts. Here, we describe a novel case of APL in a pregnant woman with a t(15;17) translocation and variant fusion transcripts.


Asunto(s)
Leucemia Promielocítica Aguda/genética , Proteínas Nucleares/genética , Proteínas de Fusión Oncogénica/genética , Complicaciones Neoplásicas del Embarazo/genética , Receptores de Ácido Retinoico/genética , Factores de Transcripción/genética , Translocación Genética , Proteínas Supresoras de Tumor/genética , Adulto , Antineoplásicos/uso terapéutico , Médula Ósea/patología , Femenino , Humanos , Idarrubicina/uso terapéutico , Hibridación Fluorescente in Situ , Cariotipificación , Corea (Geográfico) , Leucemia Promielocítica Aguda/diagnóstico , Leucemia Promielocítica Aguda/tratamiento farmacológico , Leucemia Promielocítica Aguda/patología , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones Neoplásicas del Embarazo/tratamiento farmacológico , Complicaciones Neoplásicas del Embarazo/patología , Proteína de la Leucemia Promielocítica , Receptor alfa de Ácido Retinoico , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Tretinoina/uso terapéutico
15.
Cancer Genet Cytogenet ; 187(1): 50-3, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18992643

RESUMEN

We report a rare case of acute myeloid leukemia (AML) with t(6;11)(q15;q23) in a 50-year-old female showing a poor prognosis. Bone marrow biopsy revealed markedly hypercellular marrow with infiltrates of myeloblasts, consistent with AML-M2 morphology. The karyotype of this patient was 46,XX,t(6;11)(q15;q23) in all analyzed cells, and the results of fluorescence in situ hybridization (FISH) and multi-color FISH analysis confirmed this unique MLL rearrangement as a sole abnormality. To our knowledge, t(6;11)(q13 approximately q15;q23) is the most rare type of MLL rearrangement involving the long arm of chromosome 6. Only two cases with t(6;11)(q13;q23) and three cases with t(6;11)(q15;q23) have been reported, but detailed clinical or laboratory data were not available. From this report, it is apparent that in a cytogenetic laboratory, the accurate detection of a rare type of MLL rearrangement is very important in the differential diagnosis, prompt treatment, and prediction of prognosis of leukemias.


Asunto(s)
Aberraciones Cromosómicas/clasificación , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 6 , Reordenamiento Génico , Leucemia Mieloide Aguda/genética , Proteína de la Leucemia Mieloide-Linfoide/genética , Translocación Genética , Médula Ósea/patología , Mapeo Cromosómico , Femenino , Citometría de Flujo , N-Metiltransferasa de Histona-Lisina , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Leucemia Mieloide Aguda/patología , Persona de Mediana Edad
17.
Cancer Genet Cytogenet ; 187(2): 61-73, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19027486

RESUMEN

Acute promyelocytic leukemia (APL) is a subtype of acute myelogenous leukemia (AML) that is characterized by peculiar clinical and biologic features, including severe hemorrhagic diathesis, specific recurrent chromosomal aberration, and distinct morphologic features with predominant pathologic promyelocytes. A reciprocal translocation involving chromosomes 15 and 17, t(15;17)(q22;q21), is a characteristic feature of APL that represents approximately 5-8% of AML. The rearranged gene created by this translocation encodes a chimeric protein PML-RARA that is a transcriptional repressor. In contrast to other AML subtypes, APL is particularly sensitive to treatment with all trans-retinoic acid (ATRA) combined with chemotherapy, converting this once fatal leukemia to a highly curable disease. Nonetheless, therapy-related myelodysplastic syndrome-acute myelogenous leukemia (t-MDS/AML) has been reported as a rare complication of chemotherapy in APL. Of 30 APL cases described as t-MDS/AML in the literature, only 1 case relapsed as acute leukemia with t(3;21)(q26;q22). Here we describe a rare case of APL relapsing as secondary AML with t(3;21)(q26;q22) and clinically characterize this patient using the RUNX1 (previously AML1)-MDS1-EVI1 fusion transcript (with follow-up for 55 months), and review the relevant literature.


Asunto(s)
Leucemia Mieloide Aguda/genética , Leucemia Promielocítica Aguda/genética , Neoplasias Primarias Secundarias/genética , Proteínas de Fusión Oncogénica/genética , Translocación Genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Médula Ósea/ultraestructura , Pintura Cromosómica , Cromosomas Humanos Par 21/genética , Cromosomas Humanos Par 3/genética , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Subunidad alfa 2 del Factor de Unión al Sitio Principal/metabolismo , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Femenino , Humanos , Cariotipificación , Leucemia Mieloide Aguda/patología , Leucemia Mieloide Aguda/terapia , Leucemia Promielocítica Aguda/tratamiento farmacológico , Leucemia Promielocítica Aguda/patología , Proteína del Locus del Complejo MDS1 y EV11 , Persona de Mediana Edad , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Neoplasias Primarias Secundarias/patología , Proto-Oncogenes/genética , Análisis de Secuencia de ADN , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Tretinoina/uso terapéutico
19.
Korean J Lab Med ; 28(4): 274-81, 2008 Aug.
Artículo en Coreano | MEDLINE | ID: mdl-18728376

RESUMEN

BACKGROUND: Cystic fibrosis is a chronic progressive autosomal recessive disorder caused by the CFTR gene mutations. It is quite common in Caucasians, but very rare in Asians. Sweat chloride test is known to be a screening test for the cystic fibrosis due to the fact that electrolyte levels in sweat are elevated in patients. In this study, sweat chloride levels in Korean population were measured and analyzed by using standardized pilocarpine iontophoresis sweat chloride test. METHODS: The sweat chloride test was performed in 47 patients referred to Yondong Severance Hospital from August, 2001 to April, 2007 and 41 healthy volunteers. The sweat chloride tests were conducted according to the CLSI C34-A2 guideline using pilocarpine iontophoresis method, and the chloride concentrations in sweat were measured by mercurimetric titration. RESULTS: Four patients showed sweat chloride concentrations higher than 60 mmol/L. Reference interval was calculated as 1.4-44.5 mmol/L by analysis of the results of healthy volunteers (n=41). Four patients who exhibited high sweat chloride levels, had characteristic clinical features of cystic fibrosis and their diagnoses were confirmed either by repeated sweat chloride test or genetic analysis. CONCLUSIONS: Standardized sweat chloride test can be utilized as a useful diagnostic tool for cystic fibrosis in Koreans. In cases of sweat chloride levels higher than 40 mmol/L, the test should be repeated for the possible diagnosis of cystic fibrosis. All the confirmed Korean cases of cystic fibrosis showed sweat chloride level above 60 mmol/L.


Asunto(s)
Cloruros/análisis , Cloruros/normas , Fibrosis Quística/diagnóstico , Sudor/metabolismo , Adolescente , Adulto , Niño , Preescolar , Fibrosis Quística/genética , Femenino , Humanos , Lactante , Iontoforesis/métodos , Corea (Geográfico) , Masculino , Persona de Mediana Edad , Pilocarpina/química , Análisis de Secuencia de ADN , Sudor/química
20.
Cancer Genet Cytogenet ; 181(2): 93-9, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18295660

RESUMEN

We report a rare case of t(8;9)(p11;q33) in a patient with 8p11 myeloproliferative syndrome (EMS) that was preceded by centrosomal protein 110kDa (CEP110; previously CEP1)/fibroblast growth factor receptor 1 (FGFR1) fusion transcript. A 36-year-old man was brought to Severance Hospital with a nasopharyngeal mass and eosinophilia. Biopsy of the left tonsil and nasopharynx revealed diffuse infiltration of atypical lymphoid cells, and he was diagnosed with precursor T-cell lymphoma with hypereosinophilic syndrome. Two months later, chromosome study revealed a 46,XY,t(8;9)(p11;q33) karyotype, and the CEP110/FGFR1 fusion transcript was detected by reverse transcription-polymerase chain reaction (RT-PCR) in both this and the previous bone marrow specimen. Timely molecular and cytogenetic tests are of value for diagnosis and treatment of the newly classified "myeloid neoplasms associated with clonal eosinophilic disorders" (according to 2008 World Health Organization criteria).


Asunto(s)
Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Eosinofilia/genética , Trastornos Mieloproliferativos/genética , Proteínas de Fusión Oncogénica/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Translocación Genética , Adulto , Análisis Citogenético , Eosinofilia/patología , Humanos , Cariotipificación , Leucemia/genética , Leucemia/patología , Masculino , Datos de Secuencia Molecular , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/patología , Síndrome
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