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*

No abstract available.
Appointments and Schedules* ; Erythrocytes*

No abstract available.
Appointments and Schedules* ; Erythrocytes*

A papillary adeno-carcinoma of the renal pelvis is very rare tumor and mostly diagnosed by histopathologic findings. A 10-years-old female was admitted to Fatima Hospital with Rt. flank pain and intermittent gross hematuria.Herein, we report a case of papillary adeno-carcinoma of the renal pelvis.
Adenocarcinoma ; Female ; Flank Pain ; Humans ; Kidney Pelvis*

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*

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*

No abstract available.
Disseminated Intravascular Coagulation* ; Fibrinogen*

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*

The recent identification of tissue transglutaminase (tTG) as the autoantigen for celiac disease-associated anti-endomysial antibodies (EMA) has allowed the use of rapid immunoassay to detect the presence of autoantibodies, anti-tTG, in the serum of patients. In this study, we examined the prevalence of IgG or IgA anti-tTG in sera from patients with elevated levels of IgM rheumatoid factors, which are autoantibodies reactive with the Fc portion of IgG. We report here on four cases of anti-tTG positivity for patients with elevated IgM rheumatoid factor (RF) without evidence of celiac sprue. The study population consisted of 65 patients (26 men, 39 women; mean age, 49 years; range 4 - 92 years) with elevated RF (> 20 U/ml ), and 23 healthy subjects (12 men, 11 women; mean age, 46 years; range, 21 - 54 years). IgG and IgA anti- tTG levels were detected using a commercially available ELISA kit (Immuno-Biological Laboratories, Germany). Out of 65 patients, one (1.5%) and three (4.6%) patients were positive for IgG and IgA anti-tTG antibodies, respectively, and this was a higher frequency than occurred in healthy subjects (0/23). The clinical features of the four cases positive for IgG or IgA anti-tTG were as follows: The first case (female, 63 yrs) positive for IgA anti-tTG antibody suffered from rheumatoid arthritis, type II diabetes mellitus, iron deficiency anemia and gastric indigestion without symptoms of malabsorption. She denied any gluten sensitivity on her diet. Her esophagogastroduodenoscopic biopsy showed mucosal atrophy with no elongated crypts or infiltration of inflammatory cells in the lamina propria. The remaining three cases positive for anti-tTG antibodies had interstitial pneumonia, a herniated lumbar disc, and mild scoliosis, respectively. They all denied any malabsorption symptoms or gluten sensitivity. Jejunal biopsy could not be performed in all four cases.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Autoantibodies/*blood ; Child ; Child, Preschool ; Female ; Humans ; Immunoglobulin M/*blood ; Male ; Middle Aged ; Research Support, Non-U.S. Gov't ; Rheumatoid Factor/*blood ; Transglutaminases/*immunology

Holoprosencephaly(HPE), a common developmental defect affecting the forebrain and cranioface, is etiologically heterogenous. Teratogen, chromosomal anomalies, genetic syndrome, or genetic disorder of non-syndromic HPE are usually accepted as etiology. But the severity of brain and craniofacial malformation are not associated with etiology. Individuals with microform of HPE, who usually have normal cognition and brain imaging, are at the risk of having children with HPE. Several studies on the basis of HPE gene have been performed, which shed valuable insight on normal brain development. As additional HPE genes are identified, more accurate recurrent risk counseling can be given. We experienced a case of recurrent HPE diagnosed by transabdominal ultrasound examinations at 22 weeks' gestation.
Brain ; Child ; Cognition ; Counseling ; Holoprosencephaly* ; Humans ; Microfilming ; Neuroimaging ; Pregnancy ; Prosencephalon ; Ultrasonography