Tumors of umbilical cord, especially angiomyxoma, are extremely rare lesions. To our knowledge, five cases of angiomyxoma have been reported previously in the umbilical cord. Sonography two weeks after the finding of an elevated serum alpha-fetoprotein, detected a mass of the umbilical cord in a 27-year-old multiparous woman at 18(+3) weeks gestation. Previous sonogram was normal (11 weeks gestational age). At 26 weeks, a premature female infant was delivered by induction and a mass was located in the region of placental insertion of the cord. Section through the mass revealed rubbery myxoid appearance. Microcopically, numerous small vascular channels with thin walls were embedded in loose myxoid matrix. A case of angiomyxoma of umbilical cord with elevation of serum alpha-fetoprotein is presented together with a review of the literature. We hope that this case will help define the natural history of primary angiomyxoma of umbilical cord.
Infant ; Male ; Female ; Humans

Recently new tumor marker, MG7-Ag has been introduced for screening of gastric cancer. In this study MG7-Ag and CEA in sera of 50 normal healthy Koreans and 48 patients with gastric cancer group were determined to elucidate the clinical usefulness for gastric cancer screening. Commercial Enzyme Immuno Assay kits were used for analysis of above two markers. Sensitivity of MG7-Ag and CEA in patient group were found to be 43.8% and 41.7%, respectively. When the two markers were used combind, sensitivity increased to 62.5%. The concentration of MG7-Ag in patients (9.2+11.7 U/mL) was five times higher than normal control group (1.81+1.63 U/mL). CEA was 31.2+46.5 ng/mL in patients and 2.24+0.98 ng/mL (MeanSD) in normal control group. From this results, combination assay of MG7-Ag and CEA is more useful in clinical laboratories for screening gastric cancer than using one marker.
Humans ; Mass Screening ; Stomach Neoplasms*

No abstract available.

No abstract available.

No abstract available.

Recently the alanine/valine (A/V) polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, one of the key enzymes catalyzing remethylation of homocysteine, has been reported to its association with coronary artery disease. lhe homozygous of C677T mutation (VV genotype) correlates with increased plasma homocysteine levels as a result of the reduced activity and increased thermolability of MTHFR. We investigated whether this rnutation and homocysteine influence risk for coronary artery disease (CAD) in normal control subjects and CAD patients and two risk groups, A (>2 risk factors) and B (<1 risk factor). The MTHFR genotype and plasma homocysteine were determined by PCR followed by HinA digestion and high performance liquid chromatography (HPLC) system, respectively. From this study, statistical significance of V mutation of MTHFR between four groups was not found. Homocysteine level was the highest in CAD patients and the lowest in risk group B. Plasma homocysteine level in VV genotype of CAD patients was significantly higher than in other two genotypes and normal control subjects. We concluded that homozygisty for the C677T mutation of MTHFR was not an independent risk factor of CAD but associated with a prediposition to increased plasma homocysteine levels in CAD patients.
Chromatography, Liquid ; Coronary Artery Disease* ; Coronary Vessels* ; Digestion ; Genotype ; Homocysteine* ; Humans ; Oxidoreductases ; Plasma ; Polymerase Chain Reaction ; Risk Factors ; Statistics as Topic

No abstract available.
Hepatitis E virus* ; Hepatitis E* ; Hepatitis* ; Korea*

Hypervariable tandem repetitive regions in human DNA are proving to be increasingly useful for genetic analysis in humans. We chose four single locus probes (SLP; MS1, MS43, MS8 and g3) for a validation test among Koreans. The specimens were from 216 unrelated individuals and 33 paternity inclusion families. Extracted DNA from EDTA blood was restricted by Hinfl and electrophoresed in 0.7% agarose gel, transferred and hybridized with chemiluminescent probes. Heterozygosity was over 90% by all of the probes. Total numbers of unassignable mutant bands from 33 paternity inclusion cases were 5, and the highest mutation rate was determined in probe MS1(0.045). The probability of having the same DNA band between two unrelated individuals was 5.7 x 10(-10) when four SLPs were used at the same time. The data presented here on allele frequencies and mutation rates provide preliminary data supporting the validity of these probes in paternity analysis and forensic investigators in the Korean population.
Alleles ; Chromosome Mapping ; DNA, Satellite/*genetics ; Female ; Heterozygote ; Human ; Male ; Mutation ; Myoglobin/*genetics ; *Paternity ; Support, Non-U.S. Gov't

Primary Sjogren syndrome, which involves lesions in both the brain and spinal cord, is rarely reported. Related symptoms, such as intractable pain due to central nervous system involvement, are very rare. A 73-year-old woman diagnosed with primary Sjogren syndrome manifested with subacute encephalopathy and extensive transverse myelitis. She complained of severe whole body neuropathic pain. Magnetic resonance imaging demonstrated a non-enhancing ill-defined high intensity signal involving the posterior limb of the both internal capsule and right thalamus on a T2 fluid-attenuated inversion recovery image. Additionally, multifocal intramedullary ill-defined contrast-enhancing lesion with cord swelling from the C-spine to L-spine was also visible on the T2-weighted image. Her intractable pain remarkably improved after administration of concomitant oral doses of gabapentin, venlafaxine, and carbamazepine.
Aged ; Brain* ; Carbamazepine ; Central Nervous System ; Extremities ; Female ; Humans ; Internal Capsule ; Magnetic Resonance Imaging ; Myelitis, Transverse ; Neuralgia ; Pain, Intractable* ; Sjogren's Syndrome* ; Spinal Cord* ; Thalamus ; Venlafaxine Hydrochloride

BACKGROUND: Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has increased markedly because the number and proportion of pregnancies in women aged 35 yr and older have increased over a 20-yr period. Here we report clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. METHODS: To investigate the changes in the annual number of amniocentesis, distribution of indications and age, and cytogenetic findings and abnormality rate according to indications, this study retrospectively analyzed 31,615 cases of mid-trimester amniocentesis performed at Seoul Clinical Laboratories, an independent medical laboratory center, during the past 13 yr (1994-2007). RESULTS: The annual number of amniocenteses has increased substantially since 1994. Among the 31,615 amniocentesis cases, the maternal age between 30 and 34 yr was the most common age group (35.4%). Among clinical indications, abnormal maternal serum screening results have been the most common indication for amniocentesis since 1994. Chromosomal abnormalities were detected in 973 cases (3.1%). Down syndrome was the most common abnormality found (36.9%, 359/973). In sex chromosomal abnormalities, 53 cases of Turner syndromes, 32 cases of Klinefelter syndromes, 20 cases of triple X syndromes, and 15 cases of 47,XYY were diagnosed. Of structural rearrangements, reciprocal translocations between two autosomes were the most common (15.5%, 151/973). Abnormal ltrasonographic findings showed the highest positive predictive value (5.9%) among the clinical indications. CONCLUSIONS: The present study could be used for the establishment of a database for genetic counseling. The discovery of an abnormality provides the option of termination or continuation in the pregnancy, a more suitable obstetric management in Korea.
Adult ; Age Distribution ; *Amniocentesis ; *Cytogenetics ; Down Syndrome/diagnosis ; Female ; Genetic Counseling ; Humans ; Predictive Value of Tests ; Pregnancy ; *Pregnancy Trimester, Second ; Retrospective Studies ; Sex Chromosome Aberrations ; Translocation, Genetic ; Trisomy/diagnosis ; Young Adult