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.
Chondrodysplasia Punctata ; Counseling ; Cryptorchidism ; Ear ; Humans ; Hypertelorism ; Ichthyosis ; Infertility ; Intellectual Disability* ; Kallmann Syndrome ; Male ; Mothers

BACKGROUND: Total T lymphocytes can be measured by CD3-fluorescein isothiocyanate (FITC)/CD4-phycoerythrin (PE) and CD3-FITC/CD8-PE. The difference in the CD3 percentages between these two determinations was evaluated. And, we characterized the CD3(+)CD4(-)CD8(-) T lymphocytes subset using the monoclonal antibody that detects gamma delta T lymphocytes receptors. METHODS: The T lymphocyte subset assay was performed on 221 samples. A two-color direct immunofluorescence flow cytometric assay was done using a Simultest IMK-Lymphocyte kit (Bec-ton- Dickinson, San Jose, CA, USA). If the difference between the CD3 determinations were greater than 3%, the entire procedure was reviewed and the flow cytograms were reanalyzed. In 71 among 221 samples the proportion of gamma delta T lymphocytes was determined. RESULTS: The difference between the CD3-FITC/CD4-PE tube and CD3-FITC/CD8-PE tube was 3.0%, 3.6%, 3.0%, 3.4%, and 2.4% in normal subjects, patients with chronic liver disease, patients with cancer, patients with other diseases, and children, respectively. The between-tube differences for CD3 exceeding 3% were found in 69 samples (31.2%). The proportion of gamma delta T lymphocytes was 0.81%, 2.46%, 2.50%, and 0.85% in normal controls, patients with chronic liver disease, patients with cancer and patients with other diseases, respectively. No correlation between gamma delta T lymphocytes and CD3(+)CD4(-)CD8(-) T lymphocytes was observed. CONCLUSIONS: The reproducibility of the total T lymphocytes should be improved because of the between-tube difference exceeding 3% in about one third of the cases. Additionally, CD3(+)CD4(-)CD8(-) T lymphocytes were composed of heterogeneous subsets including gamma delta T lymphocytes and their proportion might be considered to be related to individual variation.
Child ; Fluorescent Antibody Technique, Direct ; Humans ; Liver Diseases ; Lymphocyte Subsets* ; Lymphocytes* ; T-Lymphocytes

BACKGROUND: Instead of hepatitis C virus (HCV) RNA test using RT-PCR, an enzyme immunoas-say for detection of HCV core protein as a simple, rapid method for the detection of HCV viremia has been developed recently. In this study, we investigated the usefulness of HCV core protein for the detection of HCV viremia by comparing the results of HCV RNA. METHODS: The study group included 71 patients; some of whom showed anti-HCV Ab. The HCV core protein assay was performed by enzyme immunoassay (Ortho Clinical Diagnostics, Raritan, NJ, USA). RESULTS: The concordance rate between HCV RNA and HCV core protein assay was 75%. Compared with the HCV RNA results, HCV core protein assay showed 50% sensitivity and 97% specificity. Among 17 patients whose results for HCV RNA were positive and those of HCV core protein were negative, all of them had anti-HCV Ab. CONCLUSIONS: Although the sensitivity of HCV core protein was not high in cases with anti-HCV Ab, the positive results for HCV core protein suggests the presence of HCV viremia. So, HCV core protein may be used as a simple and rapid method for detection of HCV viremia.
Hepacivirus ; Humans ; Immunoenzyme Techniques ; RNA ; Sensitivity and Specificity ; Staphylococcal Protein A ; Viremia*

BACKGROUND: Recently, a new serotype O3:K6 has caused a pandemic of Vibrio parahaemolyti-cus infection. The new O3:K6 serovar differs from the old O3:K6 strains at least in 7 base positions within a 1,346 bp region of the toxRS gene involved in the regulation of the virulence. We per-formed a group-specific polymerase chain reaction (GS-PCR) test for detection of the new O3:K6 strains using species-specific primers. METHODS: A total of 48 V. parahaemolyticus were isolated from clinical specimens of patients with diarrhea in different geographic areas of Seoul (Hanyang University Hospital, 20 cases), Inchon (Gachon Medical Center, 26 cases) and Gwangju (Chonnam University Hospital, 2 cases) from 1998 to 2001 in Korea. All isolates were examined for the presence of tdh/trh genes and ure-ase activity. The serovars of isolates were determined by slide agglutination tests with specific anti-sera (O3:K6/O4:K68). A GS-PCR method, detecting the new O3:K6 clone, was used in this study. RESULTS: All these isolates carried the tdh gene but not the trh gene and did not produce urease. The thirty three of the 48 samples (69%) were positive using the GS-PCR method. Thirty of thirty three cases (91%) were O3:K6 using the slide agglutination test. The three cases (9%) were O4:K68. CONCLUSIONS: We confirmed the epidemicity of the new V. parahaemolyticus O3:K6 using the GS-PCR method in Korea.
Agglutination Tests ; Clone Cells ; Diarrhea ; Gwangju ; Humans ; Incheon ; Korea ; Pandemics ; Polymerase Chain Reaction* ; Seoul ; Urease ; Vibrio parahaemolyticus* ; Vibrio* ; Virulence

Stomatococcus mucilaginosus is a Gram-positive coccus normally found in the oropharynx and upper respiratory tract. Recently, S. mucilaginosus has been increasingly reported to cause seri-ous infections in immunocompromised patients. A 42-year-old male patient with chronic myeloge-nous leukemia developed the clinical signs and symptoms of septicemia in the state of neutropenia due to the failure of a bone marrow transplant. The blood cultures revealed Gram-positive cocci in three sets of aerobic blood culture bottles. The bacteria were identified as S. mucilaginosus by an API STAPH Identification Panel (bioMerieux SA, Marcy 1 'Etoile, France). The patient was cured bacteriologically with a vancomycin treatment for 20 days. Here we report the first case of S. mucilaginosus septicemia in Korea.
Adult ; Bacteria ; Bone Marrow ; Gram-Positive Cocci ; Humans ; Immunocompromised Host ; Korea ; Leukemia ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Male ; Neutropenia ; Oropharynx ; Respiratory System ; Sepsis* ; Vancomycin

Opportunistic infections are common after a renal transplant as a result of immunosuppression. Nocardiosis is a rare but important cause of morbidity and mortality among renal transplant recipi-ents. Nocardiosis is a localized or disseminated infection, which is usually introduced through the respiratory tract resulting in pneumonia, and may develop a disseminated infection, in particular a subcutaneous abscess and/or central nervous system infection. Because effective therapy for these nocardiosis is available, an accurate and timely diagnosis is crucial. However, nocardiosis is an infrequent disease and many physicians are unfamiliar to it. In addition, in the laboratory, cul-tures may be discarded too early, which often delays an early diagnosis and treatment. The authors isolated Nocardia asteroides from an abscess of the skin in a rejected renal allograft patient suffering pneumonia. The patient was successfully treated with trimethoprim/sulfamethoxa-zole.
Abscess* ; Allografts ; Central Nervous System Infections ; Diagnosis ; Early Diagnosis ; Humans ; Immunosuppression ; Kidney* ; Mortality ; Nocardia asteroides* ; Nocardia Infections ; Nocardia* ; Opportunistic Infections ; Pneumonia ; Respiratory System ; Skin

BACKGROUND: The analytical performance of the Vitros ECi(R) Immunodiagnostic System on the thyroid stimulating hormone (TSH), free triiodothyronine (FT3), free thyroxine (FT4) and estradiol (E2) assays, which are based on electrochemical luminescence to replace the radioimmunoassay was evaluated. METHODS: The precision as measured by the NCCLS protocol and a comparison of the method were done for each TSH, FT3, FT4, and E2 assay. The functional sensitivity and linearity tests were performed for both TSH and E2. The free hormone validity test was performed for both the FT3 and FT4. RESULTS: All four analytes showed an acceptable precision. The functional sensitivities of TSH and E2 were 0.007 mIU/L, and 87 pmol/L, respectively. TSH and E2 showed excellent linearity up to 78 mIU/mL, and up to 7,700 pmol/L, respectively. The free hormone validity test showed acceptable results demonstrating accurate free hormone determination. The E2 showed a significant proportion-al bias requiring an adjustment of the reference range, However, the other analytes showed good agreement with a slight proportional bias. CONCLUSIONS: The TSH, FT3, FT4, and E2 assay by Vitros ECi(R) exhibited excellent performance overcoming the drawbacks of a conventional radioimmunoassay.
Bias (Epidemiology) ; Estradiol* ; Luminescence ; Radioimmunoassay ; Reference Values ; Thyrotropin ; Thyroxine* ; Triiodothyronine*

BACKGROUND: The triple marker test with maternal serum during 15-20 weeks gestation, based on AFP, hCG and uE3, is a useful screening technique for detecting chromosomal abnormalities and neural tube defect (NTD). However, the false positive rate has been reported from 4 to 8%. The purpose of this study was to evaluate whether or not women with a false positive result of the triple marker screening are at an increased risk for adverse outcomes other than chromosomal abnor-malities and NTD. METHODS: The study population was derived from 5,622 women undergoing triple marker screening at Mokdong Hospital between January, 1997 and August, 1999. A false positive was defined as a positive result of the triple marker test without further evidence of NTD or chromoso-mal abnormalities. The study group included 83 women whose results were a false positive and the 129 controls whose results were negative. The adverse outcomes included preterm delivery (<37 weeks), premature rupture of the membrane, pre-eclampsia, a low weight for the particular gesta-tion age (<10 percentile), a congenital anomaly and fetal death. RESULTS: The false positive rate of the triple marker test was approximately 1.5%. The overall inci-dence of adverse outcomes in the women with false positive result and those with a negative result were similar (30.1% vs 30.2%, respectively) (P > 0.05). However, adverse outcomes such as pla-cental abnormalities (8.4% vs 2.3%) and congenital anomalies (7.2% vs 0.8%) were more frequent in the women with a false positive result than women with a negative result s (P < 0.05). CONCLUSIONS: The results suggest that false positive results of the triple marker screening test do not appear to be associated with an increased risk for an adverse pregnancy outcome, but a careful evaluation for the placental and fetal abnormalities is necessary.
Chromosome Aberrations ; Female ; Fetal Death ; Humans ; Mass Screening* ; Membranes ; Neural Tube Defects ; Pre-Eclampsia ; Pregnancy ; Pregnancy Outcome* ; Pregnancy* ; Rupture

BACKGROUND: The structure of lipoprotein(a) [Lp(a)] includes a low-density lipoprotein cholesterol (LDL-C) component and apolipoprotein(a) [apo(a)] linked to apolipoprotein B-100 of LDL-C with a disulfide bond. Liver cirrhosis is the only disease in which the decrease of serum Lp(a) concentra-tion is observed as a secondary effect. In this study, we tried to investigate the mechanisms for the Lp(a) decrease in cirrhotic patients. METHODS: Forty Child 's class A cirrhotic patients, 40 Child 's class C patients from Asan Medical Center, and 80 healthy controls were recruited. Serum concentrations of interleukin-6 (IL-6), LDL-C, Lp(a), and free apo(a) were measured. RESULTS: The serum concentrations of Lp(a) in the Child 's class C patients were significantly lower than those in class A and the control group (P < 0.05). The apo(a) concentrations in the Child 's class C patients were significantly lower than those in class A and the control group (P < 0.05). The LDL-C concentrations of Child 's class C patients were significantly lower than those in class A and the con-trol group (P < 0.01). The IL-6 concentrations of Child 's class C patients were significantly higher than those in class A and the control group (P < 0.005). Serum concentrations of Lp(a) showed positive correlations with those of LDL-C (r=0.42, P < 0.0001) and with those of the free apo(a) (r=0.68, P < 0.0001). But serum concentrations of IL-6 had no correlation to those of the Lp(a) or the free apo(a). CONCLUSIONS: Considering the positive correlation between Lp(a) and LDL-C, the decrease in the serum Lp(a) in cirrhotic patients could be due mainly to the decrease in the LDL component, although we could not suggest the mechanism for the LDL decrease.
Apolipoprotein B-100 ; Apolipoproteins* ; Apoprotein(a)* ; Child ; Cholesterol ; Cholesterol, LDL* ; Chungcheongnam-do ; Humans ; Interleukin-6 ; Lipoprotein(a)* ; Lipoproteins* ; Liver Cirrhosis* ; Liver*

Myeloperoxidase (MPO) deficiency is rare and its symptoms are not specific; and therefore, it is not easy to identify persons either totally or partially who are myeloperoxidase deficient with every routine analysis. MPO deficiency can be detected by the pattern of the cytogram and the mean peroxidase index (MPXI) using the automated hematology analyzer Technicon H*2. A case of MPO deficiency is reported with some review of the available literatures.
Hematology* ; Humans ; Peroxidase*