BACKGROUND: Our purpose was to assess the utility of prenatal triple-marker (alpha- fetoprotein (AFP), beta-human chorionic gonadotropin (hCG) and unconjugated estriol (uE3) testing for chromosomal abnormalities in women with Down syndrome screen-positive results. METHODS: Total 1,082 women between 15 and 21 weeks' gestation received second trimester Down syndrome risk evaluation by triple marker testing. AFP, beta-hCG and uE3 were measured by Coat-A-Count(R) IRMA (Diagnostic Products Corporation, LA, USA), The risk for Down syndrome was calculated using a commercially available software program (AFP Expert; Benetech Medical System, Toronto, Canada) by use of a Down syndrome risk cutoff value(1:270 at midtrimester). Karyotypes were reviewed for 32 (54.2%) of these patients who received prenatal chromosome analysis. RESULTS: Fifty nine (5.5%) patients of the 1,082 women screened were identified as positive. Two chromosome abnormalities (47,XYY and 46,XX, int (9) ) were found in the 32 patients who underwent prenatal chromosome analysis (6.3%). Any cases on the abnormal serum tests torn out not to be associated with trisomy 21. CONCLUSIONS: Although triple marker screen appears to be an effective method detecting chromosome abnormalities there is a high false positive rate. Therefore, new screening test that reduce false positive rate is need to be introduced.
Chorionic Gonadotropin ; Chromosome Aberrations ; Down Syndrome ; Estriol ; Female ; Fetal Proteins ; Humans ; Karyotype ; Mass Screening ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis*

The safety and efficacy of intravenous tissue plasminogen activator(tPA) on the condition of ruling out the significant risk were studied at 6 and 12 hours after cerebral artery embolization in rabbit model. The time selection was chosen to stimulate the analogous clinical situation. The safety and effectiveness of tPA in experimental and clinical treatment of acute coronary thrombosis have been established. Tissue plasminogen activator is an endogenous fibrin-specific serine protease with the potent thrombolytic activity that has been produced recently by recombinant DNA technology. The acute cerebral thromboembolic model was induced by injecting three 0.5X1.0mm fragments of autologous arterial thromi into internal carotid artery through the intra-arterial catheter. The autologous arterial thrombi was obtained from the traumatized arterial endothelium by scratching the lumen of auricular artery using modified spinal needle. The experimental group was divided into four groups : (1) group Ia : saline-treated(1 ml/kg) control group at 6 hours after embolization(n=10), (2) group Ib : tPA-treated(1 mg/kg) at 6 hours after embolization(n=10), (3) group IIa : saline-treated control group 12 hours after embolization(n=10), (4) group Iib : tPA-treated group 12 hours after embolization(n=13). The experimental rabbits were sacrificed at 24 hours after injection of tPA(1 mg/kg) or saline(1 ml/kg) in each group. Brain was cut into 0.5 cm thick coronal sections, which were stained with triphenyltetrazolium chloride to define the areas of infarction. The transparent plastic sheets were placed on the each section, and the total area of the brain slice and the area of infarction were measured by the plannimeter(as outlined by TTC staining). The percentage area of whole brain infarction was calculated as(the sum of infarcted area/the sum of brain slice areas)x100% for each rabbit. We also observed the pathologic findings with hematoxylin-eosin staining. The results were as follows : 1) Only 1 rabbit treated with tPA at 12 hours after occlusion exhibited the gross hemorrhage. 2) The infarcted area was limited to the basal ganglia and cortex in all group. 3) The mean percentage area of whole brain infarction averaged 18.6+/-1.94% in group Ia, 6.32+/-1.02% in group Ib, and 20.8+/-3.34% in group IIa, 6.78+/-1.40% in group IIb. One-way ANOVA test of infarction size showed the significant differences(p<0.05) between the tPA-treated group and the saline-treated control group, but no difference between the groups treated with same agent. 4) Under the study of microscope, infarcted area of saline-treated control group was more extended than that of tPA-treated group. Congulation necrosis and degeneration of neuronal cells could be seen. But the infarcted area of tPA-treated group was smaller than that of saline-treated control group. Only collection of foamy macrophages adjacent the necrotic area could be seen in tPA-treated group. These results suggest that tPA therapy may be safe and efficacious during the interval of 6 to 12 hours after embolization.
Arteries ; Basal Ganglia ; Brain ; Brain Infarction ; Carotid Artery, Internal ; Catheters ; Cerebral Arteries ; Coronary Thrombosis ; DNA, Recombinant ; Endothelium ; Hemorrhage ; Infarction ; Macrophages ; Necrosis ; Needles ; Neurons ; Plasminogen ; Plastics ; Rabbits ; Serine Proteases ; Tissue Plasminogen Activator*

OBJECTIVE: Duchenne muscular dystrophy(DMD) is a X-linked recessive disease and results from mutation in the dystrophin gene. In this study, we evaluate the efficacy of polymerase chain reaction-restriction fragment length polymorphism in prenatal genetic diagnosis of DMD. METHODS: DNA was isolated from DMD family's blood and fetal amniocyte and used to perform PCR-RFLP. In DMD family(3 cases), linkage analysis was tried with 5 RFLP probes. RESULTS: DMDs of the family A had mutiple exon deletions(6, 8, 12, 13, 17). The mother was a heterozygote of pERT84;MaeIII. The male fetus had a same allele and also same exon deletions with the affected males. The pregnancy was terminated at IUP 18 gestational weeks. Pregnant woman of the family B was heterozygote of both pERT84;MaeIII and pERT87-15;BamHI, and pregnant woman of the family C was of pERT84;MaeIII. The both male fetuses , as compared with the affected male of each family, had a different allele. Thus, the fetuses were probably not affected with a confidence level of 95%. CONCLUSIONS: Prenatal diagnosis in prevention of DMD is most important. PCR-RFLP analysis in DMD family is rapid and useful diagnostic tool.
Alleles ; Diagnosis ; DNA ; Dystrophin ; Exons ; Female ; Fetus ; Heterozygote ; Humans ; Male ; Mothers ; Muscular Dystrophy, Duchenne* ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis*

No abstract available.
Colon* ; Dilatation* ; Humans ; Infant, Newborn*

No abstract available.
Disseminated Intravascular Coagulation* ; Fibrinogen*

A corticocancellous core was removed from both femurs and tibias in 5 skeletally immature pigs. The cavity was treated with 5%, 25% phenol cautery, cryosurgery, and normal saline irrigation (control). The animals were sacrified after 7days. The extent of the bone necrosis was assessed by gross examination, simple radiography, MRI evaluation and histological examination with tissue mapping. After cryosurgery, the extent of necrosis was most profound in the depth of 2.0-9.0mm beyond the cavity wall. The effect of 25%-phenol was next to cryosurgery, with a depth of 1.0-3.0mm of necrosis. 5%-phenol made necrosis with the depth of 1.0-2.5mm. Very mild degree of necrosis with the width of 0.5-1.0mm was found along the cavity wall even in control group. On MRI, signal change was well visualized on T2 weighted coronal section and it was quite coincided with the extent of bone necrosis proved by histological tissue mapping to all cases. When the epiphyseal plate was open or very close to the cavity, curettage itself, 5%- and 25%-phenol cautery and cryosurgery all produced mild ischemic necrosis along the provisional calcification zone of physeal plate. These findings suggest that cryosurgery made more profound necrosis beyond cavity than phenol cautery and MRI is very sensitive and specific to find osteonecrosis along the cavity wall after phenol cautery or cryosurgery. When epiphyseal plate is open or very close to the cavity, phenol cautery, or cryosurgery, or even curettage itself could produce an ischemic necrosis to the physeal plate itself.
Animals ; Cautery* ; Cryosurgery* ; Curettage ; Femur* ; Growth Plate ; Magnetic Resonance Imaging ; Necrosis* ; Osteonecrosis ; Phenol* ; Radiography ; Swine ; Tibia*

No abstract available.
Head* ; Neck* ; Plasmacytoma*

BACKGROUND: The mechanisms responsible for the disturbed hematopoiesis in myelodysplastic syndrome (MDS) include the expansion of abnormal clones, defects in cellular differentiation and the perturbation in the production of hematopoietic regulatory factors. Recently, viral infection such as immunodeficiency virus is known to induce myelodysplasia. And viral infection evokes the production of several cytokines. Therefore, abnormal production of cytokine may be a potential candidate for the pathogenesis of MDS after viral infections such as Epstein-Barr virus (EBV) and human parvovirus B19. METHODS: We investigated bone marrow aspiration slides from 17 patients with MDS referred for the bone marrow study, over a period from January, 1992 to April, 1996. To clarify the contribution of EBV and human parvovirus B19 infections to the pathogenesis of MDS, DNA-PCR for EBV and human parvovirus B19 was used. RESULTS: The EBV and human parvovirus B19-PCR results were all negative in 17 patients with MDS. CONCLUSIONS: EBV and human parvovirus B19 infections may not be associated with the major pathogenesis of MDS.
Bone Marrow ; Clone Cells ; Cytokines ; Hematopoiesis ; Herpesvirus 4, Human* ; Humans* ; Myelodysplastic Syndromes* ; Parvovirus ; Parvovirus B19, Human*

This study examined the responses of cultured adult rat trigeminal ganglion neurons to protons and to capsazepine and piperine, two substances known to produce pain and hyperalgesia in humans. Whole-cell patch clamp recordings were performed on cultured adult rat trigeminal ganglion(TG) neurons voltage-clamped near their resting membrane potential(-60mV). Piperine(10nM) caused a sustained inward current associated with either an increase or decrease in membrane conductance. When protons and piperine were coapplied, the membrane currents evoked in piperine-sensitive TG neurons far exceeded the algebraic sum of the responses to the two stimuli applied in isolation. Capsazepine blocked the response of TG neurons to piperine at both physiological and acidic pH. In the presence of capsazepine, responses to the mixture of piperine and protons resembled the response to a low pH stimulus applied alone. Capsazepine had no effect on sustained proton-induced current. These findings suggest that protons enhance piperine current by altering the vanilloid receptor/channel complex or by increasing the length constant of the space clamp. This study reveals that cultured trigeminal ganglion neurons show features of chemonociceptors and may provide a useful model for studying the mechanism of chemical pain production.
Adult ; Animals ; Humans ; Hydrogen-Ion Concentration ; Hyperalgesia ; Membranes ; Neurons* ; Protons ; Rats* ; Trigeminal Ganglion*

Plasminogen is a key proenzyme in the fibrinolytic and thrombolytic systems. Congenital deficiency of plasminogen and molecular abnormality of plasminogen (dysplasminogenemia) have been reported in association with the thrombotic tendency in human. In dysplasminogenemia, the level of immunoreactive plasminogen is normal, although the functional activity is reduced. Human plasminogen gene spans about 52.5 kb of DNA and consists of 19 exons. Three types of mutations (Ala601Thr, Val355Phe, and Asp676Asn) have been described in dysplasminogenemia. In this study, we measured the plasminogen activity in patients with deep vein thrombosis and analyzed the DNA sequence to detect three point mutations (Ala601Thr, Val355Phe and Asp676Asn) in patients with hypo/dysplasminogenemia. Dysplasminogenemia was identified in 3 (8.3%) of unrelated 36 patients with deep vein thrombosis and the Ala601Thr mutation was detected in all three patients with dysplasminogenemia. In conclusion, dysplasminogenemia is not rare in deep vein thrombosis, which suggests a risk factor for the thrombosis in Korean population.
Adult ; Aged ; Alanine/metabolism* ; Female ; Human ; Korea ; Male ; Middle Aged ; Plasminogen/genetics* ; Plasminogen/metabolism ; Point Mutation* ; Risk Factors ; Sequence Analysis, DNA ; Threonine/metabolism* ; Venous Thrombosis/blood ; Venous Thrombosis/genetics*