A case of myelodysplastic syndrome with a der(1;18)(q10;q10) translocation

No abstract available.

Misidentification of Candida parapsilosis as Large Platelets in an Automated Blood Analyzer / 대한임상미생물학회지

We experienced a case in which yeasts in blood sample from a patient with cervical cancer with hepatic metastasis and multiple intraperitoneal cysts interfered with platelet morphology flag in automated blood analyzer. The peripheral blood smear was performed to confirm the flag and revealed intracellular and extracellular yeasts, which were subsequently identified as Candida parapsilosis by blood culture.

GATA1 Mutation in Transient Myeloproliferative Disorder of Down Syndrome / 대한혈액학회지

Children with Down syndrome (DS) have a higher risk of developing leukemia than do healthy children, and they especially have a higher risk for developing transient myeloproliferative disorder (TMD) or acute megakaryocytic leukemia (AMKL). In recent studies, it has been reported that most of these patients have acquired mutation of the GATA1 gene, which encodes the erythroid/megakaryocytic transcription factor GATA1. GATA1 mutations have not been found in AMKL patients who did not have DS and other hematologic malignancies in DS. Most of the GATA1 mutations in DS-TMD/AMKL are nonsense mutations that are mainly located in exon 2. We observed a nonsense mutation in exon 2 of GATA1 [c.189_190delCA (Tyr63X)] in one case of DS-TMD. The GATA1 mutation has been thought to be an early event in the leukemogenesis of DS-TMD/AMKL and it could be used as a stable molecular marker to assess the treatment response or to monitor for the recurrence of DS-TMD/AMKL.

mRNA Expression and RNA Editing (2451 C-to-U) of IL-12 Receptor beta2 in Adult Atopic Patients

Interleukin (IL)-12 activates T helper (Th) 1 cells to produce interferon (IFN)-gamma which inhibits atopic inflammation. IL-12 acts through interaction with its receptor, especially beta2 subunit. In several studies, the low production of IFN-gamma in peripheral mononuclear cells of atopic patients on response to IL-12 stimulation has been reported. Therefore we investigated the IL-12 receptor beta2 (IL-12R beta2) mRNA expression and RNA editing, nucleotide 2451 C-to-U conversion, to find the cause of low responsiveness to IL-12 in atopy. Quantitative real time PCR for mRNA expression and sequence analysis for RNA editing were performed in 80 atopic patients and 54 healthy controls. The expression of IL-12R beta2 mRNA was significantly lower in atopic patients than healthy controls (p<0.05). In sequence analysis, RNA editing on nucleotide 2451 was not found from either atopic patients or healthy controls. In additional evaluation, there was no relationship between expression of IL-12R beta2 mRNA and serum total IgE or blood eosinophil count. Reduced IL-12R beta2 mRNA expression in atopic patients indicate the reduced capacity to respond to IL-12 which induce IFN-gamma production and this may contribute to Th2-skewed immune response in atopy.

A Case of Skin and Soft Tissue Infection by Mycobacterium abscessus / 대한임상미생물학회지

A 36-year-old female who initially presented with a small erythematous and swollen abscess on her left anterior tibial area was found out to have a cutaneous Mycobacterium abscessus infection. She was first treated with incision and drainage, dressing, and antibiotics. The lesion began to be aggravated and dispersed. Neither aerobic nor anaerobic bacteria was grown on blood agar plate. After a few weeks, Mycobacterium grew on Ogawa media after 6 days, and was identified as M. abscessus by PCR-restriction fragment length polymorphism. She was then treated with clarithromycin, levofloxacin, and amikacin, and the skin lesion was resolved without further recurrence.

Occurence of 17p Deletion with Blast Transformation in Idiopathic Myelofibrosis Treated with Hydroxyurea / 대한혈액학회지

The recently described '17p deletion syndrome' is a clonal hematologic disease which has characteristic dysgranulopoietic features, such as pseudo-Pelger-Huet hypogranulation and small vacuoles in neutrophils and is strongly associated with p53 mutation. The cases with 17p deletion are seen in 3~4% of myelodysplastic syndrome and acute myelogenous leukemia and about 30% of them are therapy-related. Hydroxyurea, which is considered to have relatively low leukemogenic potential, has therefore been widely used in chronic myeloproliferative disease. But the recent study has found that hydroxyurea administration is a considerable risk for later leukemic transformation and is closely associated with development of 17p deletion. We report one case of idiopathic myelofibrosis which developed 17p deletion with blast increment after hydroxyurea therapy for 3 years.

3 Year Results of Tacrolimus in Kidney Transplantation: Single Center Experience / 대한이식학회지

PURPOSE: Results of the US randomized, comparative, multicenter study demonstrated that tacrolimus (Tac) was equivalent to cyclosporine (CyA) in 1-year patient and graft survival in recipients of cadaveric renal transplants. However, the incidence and severity of acute rejection was significantly lower in Tac-treated patients compared with CyA-treated patients. This retrospective, non-randomized single center study represents results of follow-up to 3 years posttransplant. METHODS: A total of 97 kidney transplant recipients were included; 41 received Tac-based immunosuppression, and 56 received CyA-based immunosuppression and followed for 3 years posttransplant. Serious adverse events were also monitored over 3 years. RESULTS: The three-year patient survival rates were 95.0% and 96.5% for Tac and CyA, respectively (P=NS). Corresponding graft survival rates were 90.2% and 91.0%, respectively (P=NS). However, the incidence of acute rejection was significantly less in the Tac-group compared with the CyA-group (17.1% vs. 35.7%, P=0.043). The rate of crossover was significantly higher in the CyA-group (4.9% vs. 21.4%, P=0.013). Renal function at 3 years was similar in both treatment groups. The incidence of posttransplant diabetes mellitus (PTDM), head-ache and alopecia was significantly less in the CyA-group, and that of hypertension, hypercholesterolemia after transplantation was significantly less in Tac-group. The incidence of hirsutism and gingival hyperplasia was negligible in Tac-group. Incidence of hand tremor, hyperkalemia, bacterial and viral infection, and malignancy was comparable in both groups. The incidence of PTDM was significantly less in CyA-group (26.8% vs. 7.1%, P=0.008). Nine (81.8%) of the 11 Tac patients with PTDM were off of insulin at 3 years. CONCLUSIONS: Tacrolimus is a very effective primary immunosuppressive agent in renal transplant recipient. The reduced incidence of acute rejection along with decreased incidence of hypertension and hyperlipidemia after transplantation suggests potential long-term advantage with the use of this drug.

Evaluation of Urinary Antigen Test for Rapid Diagnosis of Community-Acquired Pneumococcal Pneumonia / 대한임상미생물학회지

BACKGROUND: Streptococcus pneumoniae is one of the most common pathogens of communityacquired pneumonia (CAP) which needs rapid diagnosis and appropriate therapeutic approaches. We evaluated a new rapid urinary antigen test kit, NOW S. pneumoniae antigen test (Binax Inc., Maine, USA), for the detection of the S. pneumoniae antigen in the urine of patients who were suspected of CAP. METHODS: A total of 115 urine samples were tested during April to July, 2004. Patients were divided into 2 groups: the first was the patients who were suspected of CAP and the second was the patients with other disorders. Urinary antigen test was performed done by immunochromatographic methods and results were read within 15 minutes. All the urine samples were random and unconcentrated. The patients were reviewed clinically, together with the results of sputum and blood cultures, urinalysis and other laboratory tests. RESULTS: Overall mean age was 62-years old and male proportion was 59%: Group 1 had mean age of 63-years old and male 54% whereas group 2 had 60-years old and 76%. S. pneumoniae antigen was detected in the urine from 14 (12.2%) of 115 patients. Of the 14 patients with positive urinary antigen tests, 12 were from 90 patients with CAP with fever, leukocytosis and appropriate radiological findings, giving the sensitivity of 13.3%; the remaining 2 patients were from 25 patients with other disorders. Only 2 of the 12 patients showed S. pneumoniae in sputum or blood cultures, respectively. Urinary antigen was not detected in 23 of the 25 patients with other disorders, giving the specificity of 92%. CONCLUSIONS: Since this simple and rapid urinary antigen test showed low sensitivity in this study, the clinical symptoms and signs and radiological findings of patients should be reviewed together with the results of the urine test for early and accurate diagnosis and treatment, consistent clinical symptoms and signs with radiological studies are inevitable. Thus further studies would be necessary. The urinary antigen test showed high specificity and therefore should be a useful adjunct to cultures to be in aid of the diagnosis of CAP.

A Case of X;Y Translocation with Complex Minor Anomalies and Mental Retardation: 46,Y,der(X)t(X;Y)(p22.3;q11.2)mat / 대한임상병리학회지

A three year old boy was admitted due to minor anomalies, such as hypertelorism, clinodactyly, ear anomaly, simian crease, renal anomalies, cryptorchism and mild mental retardation. The chro-mosome and FISH analysis showed 46,Y,der(X)t(X;Y)(p22.3;q11.2), and the same chromosomal pattern was found in the mother, who showed no phenotypic anomalies or mental retardation. According to previously reported X-Y translocation cases, the Xp22.3 was the most common breakpoint and many X-linked diseases, which are regulated by the genes located in Xp22.3, were expressed in a variable pattern, such as chondrodysplasia punctata, X-linked ichthyosis, mental retardation, Kallmann syndrome as the sole anomaly or a complex pattern. This boy did not show the typical anomalies that correspond to the above diseases. However, regular follow up and addi-tional studies with adequate counseling will be necessary due to the possibility of delayed ccurence of other typical symptoms and problems such as infertility as he grows up.

Primary Immunosuppression with Tacrolimus in Renal Transplantation: Single Center Experience / 대한이식학회지

PURPOSE: Tacrolimus (FK-506) represents a major advance in the prevention of rejection following solid organ transplantation. Previous clinical trials in Japan, Europe, and the US suggest that tacrolimus is an effective primary immunosuppressive agent in kidney transplantation. This prospective, non-randomized single center study was done to confirmed the efficacy of tacrolimus in kidney transplantation. METHODS: A total of 50 renal transplant recipients who followed-up at least one year after transplantation was included in this study. Thirty six cases (72%) recived triple drug therapy consists of tacrolimus, mycophenolate mofetil (MMF), and low dose steroid. RESULTS: The overall incidence of acute rejection was 10%, all episodes of rejection were treated effectively with steroid pulse therapy. The incidence of treatment failure was six percent. One and two year graft survival were 98% and 96%, respectively. Adverse effects of tacrolimus therapy included tremor of the hand (56%), diarrhea (34%), alopecia (26%), hyperkalemia (22%), nephrotoxicity (18%), post transplant diabetes mellitus (14%), hypertension (14%), and hypercholesterolemia (10%). However, the incidence of gum hypertrophy and hirsutism were 6% and 2%, respectively. CONCLUSION: This short-term study indicates that tacrolimus appears to provide safe and effective primary immunosuppression in kidney transplantation.

A Case of Pernicious Anemia and Myasthenia Gravis after Thymectomy and Irradiation of an Invasive Thymoma / 대한내과학회지

Herein we wish to report a case of pernicious anemia and myasthenia gravis occurred after treatment with removal of an invasive thymoma and irradiation. Nine years ago, the male patient was visited due to chest pain, and was found a mediastinal mass at his age of 55. He received open thoracotomy and was found stage III invasive thymoma which infiltrated phrenic nerve and pericardium. After removal of thymoma, he received 4,500cGy of radiation. Two years later, he complained of left eyelid drooping and diagnosed as myasthenia gravis with tensilon test. His myasthenic eye symptom was controled with Mestinon. After 9 years from thymectomy, he complained of dizziness and dyspnea on exertion. Bone marrow smear revealed megaloblastic anemia and serum vitamin B12 level was 42.24pg/ml. Gastric juice analysis revealed achlorhydria with positive anti-intrinsic factor antibody. 6 weeks after treatment with parenteral vitamin B12, hematologic findings were normalized.

Blood Antithrombin III and Cerebrospinal Fluid Fibrin/Fibrinogen Degradation Products in Aneurysmal Subarachnoid Hemorrhage Patients

It is known that antithrombin III is a potent vasodilator and plasmin is a vasoconstrictor, and some patients with a subarachnoid hemorrhage(SAH) develop clinical vasospasm and some patients do not. Under the hypothesis that the development of clinical vasospasm might depend on the difference of the blood level of antithrombin III in each patient with SAH and that the plasmin might have a role in the development of clinical vasospasm, we repeatedly checked the levels of blood antithombin III with a single radial immunodiffusion method and CSF fibrinogen degradation products(FDP : indirect indicator of plasmin activity) with a latex-test(Thrombo-Wellcotest(R)) during the period between 1-4, 5-11 and 12-24 days after a SAH in 29 patients. 10 patients with diseases except those with a SAH were selected as a control group. First, we analyzed the difference of the average of blood antithrombin III and CSF FDP between aneurysmal SAH patients and control patients and then, between patients with clinical vasospasm(8 cases) and patients without clinical vasospasm(21 cases). Secondly, we also analyzed the difference of these data between patients with clinical vasospasm and patients without clinical vasospasm according to the sampling day after a SAH. As a result, there was no statistical difference between the average blood level of antithrombin III in control and in SAH patients(29.06+/-3.04 vs. 25.61+/-6.95, respectively), and in patients with clinical vasospasm and in patients without clinical vasospasm(26.59+/-7.65 vs. 23.67+/-7.40, respectively). The average CSF levels of FDP is higher in SAH patients than in control patients(18.16+/-14.36 vs. 1.00+/-3.16, respectively : p0.05). In the analysis of the average CSF levels of the FDP according to the sampling day after a SAH, even though the average levels is higher in patients with clinical vasospasm than in patients without clinical vasospasm(1-4 days : 31.43+/-14.64 vs. 27.33+/-16.24, 5-11 days : 23.75+/-17.68 vs. 18.10+/-16.32, 12-24 days : 32.50+/-13.89 vs. 18.82+/-16.54, respectively), a statistical significant difference was noticed only in levels which were checked between 12 and 24 days after a SAH(p<0.05). This study concludes that the blood level of antithrombin III shows no difference between the control and SAH patients, and patients with clinical vasospasm and patients without clinical vasospasm. Although it suggests a causal relationship between the FDP itself or plasmin in CSF and the development of clinical vasospasm, it does not justify any valid conclusion.