PURPOSE: This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. METHODS: Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. RESULTS: The relative frequencies of different sex chromosome abnormalities were Klinefelter (52 percent), Turner (42 percent), XXX syndrome (3 percent) and mixed gonadal dysgenesis (3 percent). The populations of different karyotypes in Klinefelter syndrome were 47, XXY (97 percent) and 46, XY/ 47, XYY (3 percent). The populations of different karyotypes in Turner syndrome were 45, X (67 percent, ), mosaicism (23 percent), and structural aberrations (10 percent). The populations of different karyotypes in XXX syndrome were 47, XXX (67 percent, ) and 46, XX/47, XXX (33 percent). All mixed gonadal dysgenesis were 45, X/46, XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. CONCLUSION: Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

PURPOSE: A new continuous cell line, NBL-K1, was established in tissue culture from a Korean child with stage IV neuroblastoma, arising from the adrenal gland, which had normal urinary excretion of VMA and HVA and diagnosed by light and electron microscope. METHODS: Clinical characteristics of patient was high ferritin level, normal neuron specific enolase, and normal urinary VMA and HVA. The small tissue specimen obtained from surgically resected tumor was minced with a mosquito scissors and scalpels and cultured in L-15 medium with 17% FBS (37oC and 5% CO2). Chromosome analysis was performed from bone marrow cell culture with a method of high resolution banding using methotrexate and thymidine and TGT staining. Chromosomes were analyzed by ISCN. The N-myc amplification was checked by N-myc primers, PCR, and gel electrophoresis. RESULTS: The cells were attached to the bottom of culture flask on 4th day of culture and composed of a small and elongated cell body with relatively abundant granules in cytoplasm and oval shaped nucleus with one prominent nucleoli and slender nerve-like fiber. Cell clumps were observed on 10th day of culture. The morphology was changed to round cell when trypsin was added. The chromosome analysis revealed two kinds of hyperdiploidy. No cell contained homogeneously stained region (HSR). But numerous double minutes (DMs) were observed. N- myc oncogene of the NBL-K1 was not amplified. The cultured cells with many black immunobeads around the surface considered to be the neuroblastoma cells. CONCLUSION: The characteristic Korean neuroblastoma cell line (NBL K-1) was estblished for the future studies of in vitro chemosensitivity test, monoclonal antibody and xenograft.
Adrenal Glands ; Antibodies, Monoclonal ; Bone Marrow Cells ; Cell Line* ; Cells, Cultured ; Child ; Culicidae ; Cytoplasm ; Electrophoresis ; Ferritins ; Genes, myc ; Heterografts ; Humans ; Methotrexate ; Neuroblastoma* ; Phosphopyruvate Hydratase ; Polymerase Chain Reaction ; Thymidine ; Trypsin

BACKGROUND: Since the introduction of anti-HCV assay, post-transfusion hepatitis (PTH) by Hepatitis C Virus (HCV) was remakably reduced. Recently, based on the estimation of HCV seroincidence rate in blood donors, an investigator insisted that alanine aminotransferase (ALT) test be discontinued as a surrogate marker. This study was designed to determine the HCV seroincidence in Korean blood donors. METHODS: HCV seroincidence was calculated using repeat donors who had donated repeatedly during the 26 months from Nov. 1994 through Dec. 1996. To calculate the person-years according to ALT value, the computer database of the Korean National Red Cross (KNRC) was used in which results for anti-HCV by enzyme immunoassay (EIA) were filed up. To count the true incidence cases, who were defined as donors showing seroconversion by confirmatory test in two successive donation, seroconverted donors by EIA were individually reconfirmed whether they were true seroconverters. Finally, projected impact on HCV risk of discontining of ALT screening was calculated by using two important value previously known, such as periods of seroconversion window for anti-HCV and ALT preconversion window. RESULTS: HCV seroincidence was estimated to be 13.79/100,000 person-years. Seroincidences according to the ALT groups were as follows; 13.22 in the normal ALT group (< or = 64 IU/L), 34.15 in the elevated group (65-130 IU/L), 87.13 in the highly elevated group (> or =131 IU/L). By this study, investigators also could find seroconverted donors, whose result for anti-HCV by immunoblot was positive at the first donation and changed to negative by EIA at the next donation, as many as 100 donors. Among these falsely seroconverted persons, 16% of donors showed elevated ALT value. 8 units per 1 million donations were estimated to be discarded only by abnormal results of ALT testing in Korea. CONCLUSION: HCV seroincidence in Korean donors was 2.8 times as high as in American donors. HCV seroincidence calculated by this study seems to be somewhat lower than true rate because of the problem of summing-up the person-years. Considering that higher seroincidence results in more donors in seroconversion window phase, donor selection by careful history taking should be re-emphasized to reduce the seroincidence rate in Korean blood donation program.
Alanine Transaminase ; Biomarkers ; Blood Donors* ; Donor Selection ; Hepacivirus ; Hepatitis ; Humans ; Immunoenzyme Techniques ; Incidence ; Korea* ; Mass Screening ; Red Cross ; Research Personnel ; Tissue Donors

PURPOSE: To determine the effect of genistein, an inhibitor of protein tyrosine kinase, on preretinal neovascularization through the quantification of retinal neovascularization using image analyzer in an experimental rat model. METHODS: In 36 eyes of 36 rats, retinal vein occlusion was induced by photodynamic therapy with an argon green laser and systemic injection of rose bengal (40 mg/kg). The development and progression of retinal neovascularization was followed weekly by fluorescein angiography. Seven rats were sacrificed each week, after which two eyes were prepared with H and E staining for histologic examination, and five were prepared as a control group using ADPase staining for neovascularization analysis. In the remaining fifteen eyes, retinal vein occlusion was also induced using the same method. Immediately after vein occlusion, 4.0 mg of genistein dissolved in dimethyl sulfoxide (DMSO) was injected intraperitoneally twice a day for the first 7 days. Five rats were sacrificed each week and stained with ADPase. After ADPase staining, those samples with evidence of neovascularization were quantified using an image analyzer. RESULTS: No retinal neovasularizaion was found at the end of the first week. The size of retinal neovascularization for the five eyes sacrificed at the end of week 2 and 3 were 6.53+/-2.11 mm2 and 3.77+/-3.51 mm2 in the control group, and 2.22+/-1.01 mm2 and 1.64+/-0.88 mm2 in the genistein treatment group, respectively. Retinal neovascularization was successfully suppressed until two weeks after laser treatment by genistein in this rat neovascularization model. CONCLUSIONS: Genistein may be a useful treatment modality to suppress retinal neovascularization complicated with retinal ischemic injury.
Animals ; Apyrase ; Argon ; Dimethyl Sulfoxide ; Fluorescein Angiography ; Genistein* ; Models, Animal ; Photochemotherapy ; Protein-Tyrosine Kinases ; Rats* ; Retinal Neovascularization ; Retinal Vein Occlusion ; Retinaldehyde ; Rose Bengal ; Thrombosis* ; Veins

PURPOSE: Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. METHODS: Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. RESULTS: We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. CONCLUSION: In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.
Adult ; Child ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Down Syndrome ; Genetic Counseling ; Growth and Development ; Gyeongsangbuk-do ; Hope ; Humans ; Incidence ; Infertility ; Karyotype ; Klinefelter Syndrome ; Korea ; Lymphocytes ; Pediatrics ; Sex Chromosomes ; Turner Syndrome

Hippocampal sclerosis (HS) is one of the most common features of intractable temporal lobe epilepsy. Generally it can be identified through brain magnetic resonance imaging (MRI) with high degree of sensitivity and specificity. Typical brain MRI findings of HS are hippocampal atrophy with hyperintense signal confined to the lesion. On the other hand cortical dysplasia exhibits blurring of the gray-white matter junction and abnormal white matter signal intensity. We present a case where preoperative brain MRI strongly suggested the presence of diffuse cortical dysplasia in the left temporal lobe but postoperative pathology revealed the temporal lesion to be unremarkable except for hippocampal sclerosis.
Atrophy ; Brain ; Epilepsy ; Epilepsy, Temporal Lobe ; Hand ; Hippocampus ; Humans ; Magnetic Resonance Imaging ; Malformations of Cortical Development ; Sclerosis ; Sensitivity and Specificity ; Temporal Lobe

PURPOSE: Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD). METHODS: Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE results by funduscopy and were analyzed on the basis of their clinical features, biochemical test results, morphological analysis, and neuroimaging findings. RESULTS: Thirty-seven (50%) of the 74 MD patients developed ophthalmologic symptoms. Abnormal findings were observed in 36 (48.6%) patients during an OE, and 16 (21.6%) of them had no ocular symptoms. Significantly higher rates of prematurity, clinical history of epilepsy or frequent apnea events, abnormal light microscopic findings in muscle pathology, diffuse cerebral atrophy in magnetic resonance imaging, and brainstem hyperintensity and lactate peaks in magnetic resonance spectroscopy were noted in the group with abnormal OE results. CONCLUSION: Although the ophthalmologic symptoms are not very remarkable in MD patients, an OE is required. When the risk factors mentioned above are observed, a more active approach should be taken in the OE because a higher frequency of ocular involvement can be expected.
Apnea ; Atrophy ; Brain Stem ; Child ; Electron Transport ; Enzyme Assays ; Epilepsy ; Humans ; Lactic Acid ; Light ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Mitochondria ; Mitochondrial Diseases ; Muscles ; Neuroimaging ; Ophthalmology ; Retina ; Risk Factors

PURPOSE: Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. METHODS: Funduscopy was conducted on 24 subjects, who were chosen among those diagnosed as having mitochondrial respiratory chain complex defect and who were clinically suitable for the criteria of Leigh syndrome. Their clinical features, ophthalmologic symptoms, and ophthalmologic examination results were retrospectively analyzed. RESULTS: Of the 24 patients with Leigh syndrome, 11 developed ophthalmologic symptoms and no abnormal finding was observed in 13. The most frequent abnormal finding was visual disturbance in 5 patients. Funduscopy revealed abnormal findings in 17 patients; retinal pigmentation was the most frequent abnormality and was seen in 9 patients. CONCLUSION: Funduscopy can be an important screening test to find ophthalmologic abnormalities among patients with mitochondrial disease (MD), including those patients whose ophthalmologic symptoms are inconspicuous. It is predicted that an improved screening test can be made in the future that will identify risk factors related to ophthalmologic symptoms.
Electron Transport ; Humans ; Leigh Disease ; Mass Screening ; Mitochondrial Diseases ; Pigmentation ; Retinaldehyde ; Retrospective Studies ; Risk Factors

Orbital lesions may be the presenting sign of a systemic disease, such as a metastatic cancer. A metastatic cancer of the orbit, which has been reported to account for 2~3% of all orbital tumor, is a malignant neoplasm that had spread by hematogenous routes to the orbit from a distant primary site. Although metastatic orbital tumors are mostly from breast, lung, prostate, rarely, they can be originated from gastrointestinal tract such as large intestine, ileum and pancreas. However, there has been no report of metastatic orbital tumor from biliary system, until now. Herein, we report a unique case of metastatic orbital tumor from the intrahepatic cholangiocarcinoma, which has been successfully controlled with systemic chemotherapy and radiotherapy.
Biliary Tract ; Breast ; Cholangiocarcinoma* ; Drug Therapy ; Gastrointestinal Tract ; Ileum ; Intestine, Large ; Lung ; Neoplasm Metastasis* ; Orbit* ; Pancreas ; Prostate ; Radiotherapy

We evaluated the long-term outcome of vagus nerve stimulation (VNS) in 28 children with refractory epilepsy. Of these 28 children, 15 (53.6%) showed a >50% reduction in seizure frequency and 9 (32.1%) had a >75% reduction. When we compared seizure reduction rates according to seizure types (generalized vs. partial) and etiologies (symptomatic vs. cryptogenic), we found no significant differences. In addition, there was no correlation between the length of the stimulation period and treatment effect. The seizure reduction rate, however, tended to be inversely related to the seizure duration before VNS implantation and age at the time of VNS therapy. VNS also improved quality of life in this group of patients, including improved memory in 9 (32.1%), improved mood in 12 (42.9%), improved behavior in 11 (39.3%), improved altertness in 12 (42.9%), improved achievement in 6 (21.4%), and improved verbal skills in 8 (28.6%). Adverse events included hoarseness in 7 patients, dyspnea at sleep in 2 patients, and wound infection in 1 patient, but all were transient and successfully managed by careful follow-up and adjustment of parameters. These results indicate that VNS is a safe and effective alternative therapy for pediatric refractory epilepsy, without significant adverse events.
Adolescent ; Child ; Child, Preschool ; Electric Stimulation Therapy/*methods ; Epilepsy/*therapy ; Female ; Humans ; Korea ; Male ; Quality of Life ; Seizures/therapy ; Time Factors ; Treatment Outcome ; Vagus Nerve/*pathology