A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome / 대한진단검사의학회지

Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced parental translocation or due to de novo duplication. Here, we present the first report of a combined partial trisomy 2p and trisomy 18p due to a supernumerary marker chromosome (SMC). The final karyotype of the patient was 47,XX,+der(18)t(2;18)(p23.1;q11.1)[22]/46,XX[8]. The patient had typical dysmorphic features of partial trisomy 2p23-pter syndrome and congenital heart disease. SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling.

A Case of Adult B Lymphoblastic Leukemia with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3) / 대한진단검사의학회지

In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here, we report a case of adult B-ALL with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3). A literature review revealed that ider(9) (q10)t(9;22) is a rare variant of t(9;22) with a deletion of the short arm of chromosome 9. Fifteen cases of ider(9)(q10)t(9;22) have been reported. This abnormality is specific to precursor B-lymphoid neoplasms, such as B-ALL or B-lymphoid blast phase of CML, and is associated with disease progression or short survival. The cytogenetic abnormality t(1;19) is also specific to B-ALL. In most instances of t(1;19), TCF3 is fused to PBX1; however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19). The patient underwent imatinib therapy in addition to intensive chemotherapy, but failed to achieve remission.

Detection of mecA, blaZ and aac(6')-aph(2") gene of staphylococci by PCR / 대한임상병리학회지

BACKGROUND: Staphylococci are major nosocomial pathogens and reveal an increase in resistant strains such as methicillin-resistant Staphylococcus aureus. For treatment of infection and prevention of dissemination, rapid and reliable identification methods are required but the conventional bacterial identification and susceptibility tests require at least 24 hours. In this study, we evaluated the polymerase chain reaction (PCR) of the antibiotic resistant genes by comparing with the disk diffusion susceptibility test for the detection of resistance to penicillin, oxacillin and gentamicin. METHODS: A hundred-thirty-five staphylococci including 95 S. aureus and 40 S. epidermidis were from clinical specimens from June to December 2000. Antimicrobial susceptibility tests were done using the NCCLS disk diffusion method. PCRs were performed with primer sets specific for mecA, blaZ and aac(6')-aph(2"). The species-specific PCR was also used to identify S. aureus and S. epidermidis. RESULTS: All four penicillin-susceptible staphylococci were negative for blaZ and 108 of 131 penicillin resistant-staphylococci were positive for blaZ. The concordance rate for PCR of the blaZ gene and penicillin disk diffusion test was 83.0%. 110 of 115 oxacillin-resistant staphylococci were positive for mecA and all five mecA negative oxacillin-resistant strains were positive for blaZ and have the phenotype beta-Lactamase hyperproducer. One of the oxacillin-susceptible S. aureus was positive for mecA. The concordance rate of PCR for the mecA gene and oxacillin disk diffusion test and those of the aac(6')-aph(2") gene and gentamicin disk diffusion test was 95.6% and 97.8%, respectively. CONCLUSTIONS: The disk diffusion tests misdiagnosed 25% of the mecA negative staphylococci as methicillin-resistant staphylococci (MRS) and lost one of the mecA positive strain. We considered that the detection of the mecA and blaZ gene using the PCR was more useful than the disk diffusion test for detection of methicillin-resistant staphylococci.

Prevalence of HIV Infected Blood Donors in Korea / 대한수혈학회지

Screening test of Human Immunodeficiency Virus(HIV) infection was introduced on Korean Blood Donor Test Program in July 1987, and the test results between July 1987 and December 1990 were reported on the Korean Journal of Blood Transfusion on May 1992. Moreover, we assessed anti-HIV ELISA screening test result of 3,905,986 blood donors donated at Korean Red Cross Blood Centers between January 1991 and December 1993. The seropositivity of anti-HIV ELISA screening test was 0.26% in 1991, 0.30% in 1992 and 0.18% in 1993.0.15% of all donors in 1991 was reactive repeatedly, and 0.15% in 1992 and 0.08% in 1993. The prevalence of HIV infected donors confirmed by Western Blot Assay was 0.0003% in 1991, 0.0015% in 1992, and 0.0009% in 1993. The sero-positivities of anti-HIV screening tests with AIDSDIA reagent and HIVIRO reagent were 0.32% and 0.17% and the difference was significantly(p<0.05). The sero-positivities of ELISA screening and Western Blot. Assay detecting anti-HIV were lower in soldier group than in non-soldier donor group (p< 0.05).

Prevalence of HBsAg and anti-HCV Among Korean Blood Donors / 대한수혈학회지

o evaluate the seroprevalence of viral hepatitis marker among Korean healthy voluntary blood donors, the positive rates of both serum HBsAg and anti-HCV were analyzed. HBsAg testing was performed in 9,561,768 donors from January 1986 to June 1994 and anti-HCV testing was performed in 4,407,933 donors from May 1991 to June 1994. Positive rates of HBsAg were 3.76% to 6.87% per year and anti-HCV were 0.37% to 0.58% per year. The sex distribution of positive HBsAg and anti-HCV showed higher in male that in female. The age distribution of positive HBsAg was higher in 3th decade and anti-HCV was in 5th decade. The positive prevalence rate of HBsAg and anti-HCV showed highter above the serum ALT 45 IU. The positive rate of HBsAg was higher in group voluntary donors and anti-HCV in various other type of voluntary blood donors. In generally, the positive prevalence rate of HBsAg and anti-HCV showing however decreasing number in every year.

Comparison of the results of multistix®-SG and comber-9-Test®RL urine dipstick assay / 영남의대학술지

Two types of urine dipstick assays, Multistix-SG and Comber-9-Test RL, were compared for compatibility, accuracy, specificity and predictive values of a positive and negative test in 501 patients' urine and artificially prepared specimen. We found that the results of semiquantitative tests of Multistix-SG and Comber-9-Test RL performed were statistically similar in patients' specimen. The urinary leukocyte esterase tests of Comber-9-Test RL assays compared with urine sediment microscopy in regard to compatibility, sensitivity, specificity, and predictive values of a positive and negative test 83.7%, 48.1%, 90.3%, 47.4% and 90.1%, respectively. The urinary nitrite tests of Comber-9-Test RL assays compared with urine culture tests, in regard to compatibility, sensitivity, specificity, and predictive values of a positive and negative test were 90.3%, 19.4%, 84.7%, 53.8% and 94.1, respectively. For the urinary protein, the sulfosalicylic acid method was the most sensitive test for any kinds of protein, and Multistix-SG appeared more sensitive than Comber-9-Test RL for the albuminuria. For the urinary bilirubin and glucose, two dipstick assays were similar in their diagnostic efficiency. Finally in the urinary occult blood tests, Comber-9-Test RL assays was more sensitive than Multistix-SG.

Computer-assisted interpretative reporting system of serum CK and LD isoenzyme tests / 대한임상병리학회지

No abstract available.