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1.  Chronic myeloid leukemia with marked splenomegaly and pseudo-Gaucher cells 
Blood research  2013;48(4):241.
PMCID: PMC3894380  PMID: 24466546
5.  Detection of RUNX1-MECOM Fusion Gene and t(3;21) in a Very Elderly Patient Having Acute Myeloid Leukemia with Myelodysplasia-Related Changes 
Annals of Laboratory Medicine  2012;32(5):362-365.
An 87-yr-old woman was diagnosed with AML with myelodysplasia-related changes (AML-MRC). The initial complete blood count showed Hb level of 5.9 g/dL, platelet counts of 27×109/L, and white blood cell counts of 85.33×109/L with 55% blasts. Peripheral blood samples were used in all the tests, as bone marrow examination could not be performed because of the patient's extremely advanced age and poor general health condition. Flow cytometric analysis, chromosome analysis, FISH, and reverse transcriptase-PCR (RT-PCR) results indicated AML-MRC resulting from t(3;21) with the RUNX1-MECOM fusion gene. To our knowledge, this is the second most elderly de novo AML patient associated with t(3;21) to be reported.
PMCID: PMC3427825  PMID: 22950073
RUNX1; MECOM; t(3;21); Acute myeloid leukemia; Myelodysplasia-related changes
9.  A Rare Case of Microgranular Acute Promyelocytic Leukemia Associated with ider(17)(q10)t(15;17) in an Old-age Patient 
We present a rare case of microgranular variant acute promyelocytic leukemia (APL) associated with ider(17)(q10)t(15;17)(q22;q12) of an old-age patient. The initial chromosome study showed a 46,XX,del(6)(?q21q25),der(15)t(15;17)(q22;q12),ider(17)(q10)t(15;17)[10]/47,sl,+ider(17)(q10)t(15;17)[3]/46,XX[16]. FISH signals from a dual color dual fusion translocation PML-RARA probe were consistent with the results of conventional cytogenetics. Because of the rarity of ider(17)(q10)t(15;17) in microgranular APL, further studies on both gene dosage effect of this chromosomal abnormality and the influence of ider(17)(q10)t(15;17) on clinical features such as prognosis, survival, and treatment response of APL cases are recommended.
PMCID: PMC3116005  PMID: 21474981
ider(17)(q10)t(15;17); Old-age; Microgranular; Acute promyelocytic leukemia
10.  Automated Detection of Malaria-Associated Pseudoeosinophilia and Abnormal WBC Scattergram by the Sysmex XE-2100 Hematology Analyzer: A Clinical Study with 1,801 Patients and Real-Time Quantitative PCR Analysis in Vivax Malaria-Endemic Area 
Recently, the XE-2100 hematology analyzer was investigated in a rather small patient group; pseudoeosinophilia or abnormal white blood cell (WBC) scattergrams reported by this instrument were considered as significantly valuable diagnostic parameters in detecting vivax malaria. This study was conducted not only to assess the usefulness of pseudoeosinophilia or abnormal WBC scattergram in vivax malaria-endemic areas with large patient groups (N = 1,801) but also to investigate the correlation of parasitemia and platelet count with pseudoeosinophilia and abnormal WBC scattergrams. Of the 1,801 analyzed patients, 413 (22.9%) were found to have malaria by Wright–Giemsa stained blood smears. Overall, either pseudoeosinophilia or abnormal WBC scattergram was detected in 191 of 413 malaria patients and 4 of 1,388 patients without malaria (sensitivity = 46.2%, specificity = 99.7%). We suggest that clinical hematology laboratories using the XE-2100 analyzer should be aware of such specific parameters, even with the absence of a clinical request.
PMCID: PMC2829901  PMID: 20207865
11.  Incidence and Seroprevalence of Hepatitis A Virus Infections among Young Korean Soldiers 
Journal of Korean Medical Science  2007;22(3):546-548.
This study was performed to determine the incidence and seroprevalence of hepatitis A virus (HAV) infections in young soldiers in the Republic of Korea Army. From January 2000 through December 2004, a total of 147 hepatitis A cases were reported to the Armed Forces Medical Command. The annual incidence rates were 7.4 per 100,000 persons in 2000, 1.6 in 2001, 4.4 in 2002, 9.8 in 2003, and 6.2 in 2004, based on the reported cases among approximately 500,000 soldiers. All patients were males with a median age of 21 yr (range, 19-27). The most common symptom was nausea (86.5%), and all patients had recovered without complications. In addition, in order to evaluate the seroprevalence of HAV infection in young adults, serum samples were obtained from randomly selected young subjects among those who had been admitted to the Armed Forces Capital Hospital from September 2005 to February 2006. A total of 200 subjects were enrolled in the study to analyze the anti-HAV immune status. The overall anti-HAV IgG seropositive rate was 2% (4/200, 95% CI, 0.60-5.21%). Given the changing epidemiology of the disease and the associated increase in morbidity, it was suggested that the routine HAV vaccination for Korean military personnel might be necessary.
PMCID: PMC2693652  PMID: 17596668
Hepatitis A; Incidence; Military Personnel; Seroprevalence
12.  Relationship of syrinx size and tonsillar descent to spinal deformity in Chiari malformation Type I with associated syringomyelia 
Chiari malformation Type I (CM-I) is a developmental abnormality often associated with a spinal syrinx. Patients with syringomyelia are known to have an increased risk of scoliosis, yet the influence of specific radiographically demonstrated features on the prevalence of scoliosis remains unclear. The primary objective of the present study was to investigate the relationship of maximum syrinx diameter and tonsillar descent to the presence of scoliosis in patients with CM-I–associated syringomyelia [AQ? Edit okay? If not, please advise. JG: edit correct]. A secondary objective was to explore the role of craniovertebral junction (CVJ) characteristics for additional risk factors for scoliosis.
The authors conducted a retrospective review of pediatric patients evaluated for CM-I with syringomyelia at a single institution in the period from 2000 to 2012. Syrinx morphology and CVJ parameters were evaluated with MRI, whereas the presence of scoliosis was determined using standard radiographic criteria. Multiple logistic regression was used to analyze radiological features that were independently associated with scoliosis.
Ninety-two patients with CM-I and syringomyelia were identified. The mean age was 10.5 ± 5 years. Thirty-five (38%) of 92 patients had spine deformity; 23 (66%) of these 35 were referred primarily for deformity, and 12 (34%) were diagnosed with deformity during workup for other symptoms. Multiple regression analysis revealed maximum syrinx diameter > 6 mm (OR 12.1, 95% CI 3.63–40.57, p < 0.001) and moderate (5–12 mm) rather than severe (> 12 mm) tonsillar herniation (OR 7.64, 95% CI 2.3–25.31, p = 0.001) as significant predictors of spine deformity when controlling for age, sex, and syrinx location.
The current study further elucidates the association between CM-I and spinal deformity by defining specific radiographic characteristics associated with the presence of scoliosis. Specifically, patients presenting with larger maximum syrinx diameters (> 6 mm) have an increased risk of scoliosis.
PMCID: PMC4141637  PMID: 24527859
Chiari malformation; syringomyelia; scoliosis
13.  Current routine practice and clinico-pathological characteristics associated with acute promyelocytic leukemia in Korea 
Blood research  2013;48(1):31-34.
Acute promyelocytic leukemia (APL) can be life threatening, necessitating emergency therapy with prompt diagnosis by morphologic findings, immunophenotyping, cytogenetic analysis, or molecular studies. This study aimed to assess the current routine practices in APL and the clinico-pathologic features of APL.
We reviewed the medical records of 48 Korean patients (25 men, 23 women; median age, 51 (20-80) years) diagnosed with APL in 5 university hospitals between March 2007 and February 2012.
The WBC count at diagnosis and platelet count varied from 0.4 to 81.0 (median 2.0)×109/L and 2.7 to 124.0 (median 54.5)×109/L, respectively. The median values for prothrombin time and activated partial thromboplastin time were 14.7 (11.3-44.1) s and 29 (24-62) s, respectively. All but 2 patients (96%) showed a fibrin/fibrinogen degradation product value of >20 µg/mL. The D-dimer median value was 5,000 (686-55,630) ng/mL. The t(15;17)(q22;q12 and PML-RARA fusion was found in all patients by chromosome analysis and/or multiplex reverse transcriptase-polymerase chain reaction (RT-PCR), with turnaround times of 8 (2-19) d and 7 (2-13) d, respectively. All patients received induction chemotherapy: all-trans retinoic acid (ATRA) alone (N=11, 26%), ATRA+idarubicin (N=25, 58%), ATRA+cytarabine (N=3, 7%), ATRA+idarubicin+cytarabine (N=4, 9%).
Since APL is a medical emergency and an accurate diagnosis is a prerequisite for prompt treatment, laboratory support to implement faster diagnostic tools to confirm the presence of PML-RARA is required.
PMCID: PMC3625006  PMID: 23589792
Acute promyelocytic leukemia; PML-RARA; Immunophenotyping; Cytogenetic analysis; All-trans retinoic acid
14.  Waldenstrom's macroglobulinemia associated with eosinophilia 
Blood research  2013;48(1):8.
PMCID: PMC3625008  PMID: 23589787
15.  Verbal and Visual Memory Impairments in Bipolar I and II Disorder 
Psychiatry Investigation  2012;9(4):339-346.
To compare verbal and visual memory performances between patients with bipolar I disorder (BD I) and patients with bipolar II disorder (BD II) and to determine whether memory deficits were mediated by impaired organizational strategies.
Performances on the Korean-California Verbal Learning Test (K-CVLT) and the Rey-Osterrieth Complex Figure Test (ROCF) in 37 patients with BD I, 46 patients with BD II and 42 healthy subjects were compared. Mediating effects of impaired organization strategies on poor delayed recall was tested by comparing direct and mediated models using multiple regression analysis.
Both patients groups recalled fewer words and figure components and showed lower Semantic Clustering compared to controls. Verbal memory impairment was partly mediated by difficulties in Semantic Clustering in both subtypes, whereas the mediating effect of Organization deficit on the visual memory impairment was present only in BD I. In all mediated models, group differences in delayed recall remained significant.
Our findings suggest that memory impairment may be one of the fundamental cognitive deficits in bipolar disorders and that executive dysfunctions can exert an additional influence on memory impairments.
PMCID: PMC3521109  PMID: 23251197
Bipolar I disorder; Bipolar II disorder; Memory; Organization; Executive function; Path analysis
16.  The First Korean Case Report of Anti-Gerbich 
Annals of Laboratory Medicine  2012;32(6):442-444.
In this study, we report the first Korean case of an anti-Gerbich (Ge) alloantibody to a high-incidence antigen that belongs to the Ge blood group system. The alloantibody was detected in a middle-aged Korean woman who did not have a history of transfusion. Her blood type was B+, and findings from the antibody screening test revealed 1+ reactivity in all panels except the autocontrol. The cross-matching test showed incompatible results with all 5 packed red blood cells. Additional blood type antigen and antibody tests confirmed the anti-Ge alloantibody. While rare, cases of hemolytic transfusion reaction or hemolytic disease in newborns due to anti-Ge have been recently reported in the literature. Therefore, additional further studies on alloantibodies to high-incidence antigens, including anti-Ge, are necessary in the future.
PMCID: PMC3486941  PMID: 23130346
Ge; Blood group antigens; Transfusion
18.  Massive iron-loaded histiocytosis 
PMCID: PMC3389072  PMID: 22783354
19.  Chronic myeloid leukemia with extreme thrombocytosis 
PMCID: PMC3317475  PMID: 22479272
20.  Characteristics of Outpatients with Pandemic H1N1/09 Influenza in a Tertiary Care University Hospital in Korea 
Yonsei Medical Journal  2011;53(1):213-220.
The pandemic H1N1/09 emerged rapidly in Korea. Here, we describe the clinical characteristics of outpatients in Seoul, Korea who were infected in the 2009 H1N1 pandemic. We reviewed the cases of outpatients with pandemic H1N1/09 who visited a tertiary care teaching hospital between September 1 and December 31, 2009. Infection with pandemic H1N1/09 was confirmed by molecular tests. Of a total of 7,182 tests, 3,020 (42.0%) were positive. Compared with 473 cases of influenza-like illness (ILI), the 586 confirmed cases of pandemic H1N1/09 differed in age [odds ratio (OR) 0.975] and fulfilling at least one of the following factors: age <5 or ≥65 years, history of contact with other pandemic H1N1/09-infected individuals (OR 0.611), fever ≥37.8℃ (OR 3.567), cough (OR 2.290), and myalgia (OR 1.559). The sensitivity of the best criteria, "fever (≥37.8℃) plus cough" (41.03%) in this study was lower than that of the Korea Centers for Disease Control and Prevention (KCDC) criteria (47.95%), whereas the positive likelihood ratio (3.55) and positive predictive value (81.6) of this criteria was higher than those of the KCDC criteria (2.98 and 78.7, respectively). The clinical characteristics of pandemic H1N1/09 are, in many regards, indistinguishable from those of ILI. Moreover, the accuracy and predictability of criteria which include only symptoms or signs were not sufficient to diagnose pandemic H1N1/09 infection. Therefore, use of a combination of symptoms with confirmatory laboratory testing is necessary for accurate diagnosis of pandemic H1N1/09.
PMCID: PMC3250331  PMID: 22187255
Influenza A virus; H1N1 subtype; pandemic H1N1/09; outpatients; characteristics
21.  Hypoxic Preconditioning-Induced Cerebral Ischemic Tolerance: Role of Microvascular Sphingosine Kinase 2 
Background and Purpose
The importance of bioactive lipid signaling under physiologic and pathophysiologic conditions is progressively becoming recognized. The disparate distribution of sphingosine kinase (SphK) isoform activity in normal and ischemic brain, particularly the large excess of SphK2 in cerebral microvascular endothelial cells, suggests potentially unique cell- and region-specific signaling by its product sphingosine-1-phosphate (S1P). The present study sought to test the isoform-specific role of SphK as a trigger of hypoxic preconditioning (HPC)-induced ischemic tolerance.
Temporal changes in microvascular SphK activity and expression were measured following HPC. The SphK inhibitor dimethylsphingosine (DMS) or sphingosine analog FTY720 was administered to adult male Swiss-Webster ND4 mice prior to HPC. Two days later, mice underwent a 60-min transient middle cerebral artery occlusion and, at 24 h of reperfusion, infarct volume, neurological deficit, and hemispheric edema were measured.
HPC rapidly increased microvascular SphK2 protein expression (1.7±0.2 fold) and activity (2.5±0.6 fold) peaking at 2h, while SphK1 was unchanged. SphK inhibition during HPC abrogated reductions in infarct volume, neurological deficit, and ipsilateral edema in HPC-treated mice. FTY720 given 48 h prior to stroke also promoted ischemic tolerance; when combined with HPC, even greater (and DMS-reversible) protection was noted.
These findings indicate hypoxia-sensitive increases in SphK2 activity may serve as a proximal trigger that ultimately leads to S1P-mediated alterations in gene expression that promote the ischemia-tolerant phenotype. Thus, components of this bioactive lipid signaling pathway may be suitable therapeutic targets for protecting the neurovascular unit in stroke.
PMCID: PMC2753710  PMID: 19644058
bioactive lipids; neuroprotection; endothelium; neurovascular unit; focal stroke
22.  Use of thalidomide to diminish growth velocity in a life-threatening congenital intracranial hemangioma 
Infantile or capillary hemangioma is the most common vascular tumor of childhood. The tumors most frequently affect the head and neck area, but rare cases of intracranial lesions have been reported. Their natural history is marked by initial rapid growth velocity followed by a plateau and, in most cases, subsequent involution. Although the lesions are considered benign, 10% of affected children develop life-threatening complications (mortality rate 20–80% in this subgroup). When surgical intervention or other methods of local control are not possible, therapeutic options are limited. Corticosteroids have been the mainstay of therapy but therapeutic response is not predictable and the infectious risk is not negligible. Interferon α-2a may also be effective but has significant toxicities.
Vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) have been implicated in the pathogenesis of hemangiomas, and antiangiogenesis agents are being evaluated in the treatment of these tumors. Thalidomide may be an ideal therapy for life-threatening hemangiomas because it inhibits new blood vessel formation by antagonizing both the bFGF and VEGF pathways and has a more acceptable toxicity profile than other agents. The authors present the case of an infant born with a life-threatening, unresectable intracranial hemangioma in which treatment with thalidomide resulted in a good clinical outcome.
PMCID: PMC2737696  PMID: 18671617
intracranial hemangioma; thalidomide; vascular endothelial growth factor
23.  Predicting functional change from preintervention measures in selective dorsal rhizotomy 
Journal of neurosurgery  2007;106(4 Suppl):282-287.
In this investigation the authors attempted to predict change in function following selective dorsal rhizotomy (SDR) and intensive physical therapy in patients with spastic diplegic cerebral palsy (CP) based on multidomain preintervention measures.
Data pertaining to 22 children with CP were collected before the SDR and again 20 months afterward. Although equations for predicting change in gait speed and function (such as the Gross Motor Function Measure) were derived, the 95% confidence interval (CI) widths were too broad to make accurate predictions that were clinically useful outside the study group.
Future work should be focused on developing additional measures such as lower-extremity motor control and balance in an attempt to reduce the CIs to more clinically relevant values.
PMCID: PMC2678243  PMID: 17465361
cerebral palsy; gait spasticity; strength; rhizotomy; predictive measure; pediatric neurosurgery
24.  Effect of selective dorsal rhizotomy in the treatment of children with cerebral palsy 
Journal of neurosurgery  2006;105(1 Suppl):8-15.
In this investigation the authors compared impairment and functional outcomes between two groups of children with cerebral palsy (CP): one group underwent selective dorsal rhizotomy (SDR) followed by intensive physical therapy (PT), and the other group underwent the latter only (PT group). Data from an age-matched group of children without disability (nondisabled [ND] group) were also collected.
Data pertaining to the 68 children with CP were collected before any intervention and again 8 and 20 months afterwards. Data regarding the 40 children in the ND group were collected in a single session.
Although patients in both groups with CP were weaker than those in the ND group, they did have strength gains. Gait speed in the SDR-PT group was slower than that in the ND group preoperatively but not at 20 months postoperatively. Gait speed in the PT group remained slower than that in the ND group. The pre- to postoperative change in the Gross Motor Abilities Estimate score was significantly greater in the SDR-PT group than in the PT-only group. An effective treatment for children with CP, SDR offers gains in strength, gait speed, and overall gross motor function.
PMCID: PMC2423424  PMID: 16871864
cerebral palsy; rhizotomy; spasticity; strength; gait; Gross Motor Function Measure; pediatric neurosurgery
25.  Acute hemolytic transfusion reactions due to multiple alloantibodies including anti-E, anti-c and anti-Jkb. 
Journal of Korean Medical Science  2003;18(6):894-896.
We report a case of two consecutive episodes of acute hemolytic transfusion reactions (HTRs) due to multiple alloantibodies in a 34-yr-old man who suffered from avascular necrosis of left femoral head. He received five units of packed red blood cells (RBCs) during surgery. Then the transfusion of packed RBCs was required nine days after the surgery because of the unexplained drop in hemoglobin level. The transfusion of the first two units resulted in fever and brown-colored urine, but he received the transfusion of another packed RBCs the next day. He experienced even more severe symptoms during the transfusion of the first unit. We performed antibody screening test, and it showed positive results. Multiple alloantibodies including anti-E, anti-c and anti-Jkb were detected by antibody identification study. Acute HTRs due to multiple alloantibodies were diagnosed, and the supportive cares were done for 6 days. We suggest the antibody screening test should be included in the panel of pretransfusion tests for safer transfusion, and it is particularly mandatory for the patients with multiple transfusions, pregnant women, and preoperative patients.
PMCID: PMC3055152  PMID: 14676451

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