OBJECTIVE: To analyze the indications, clinical features, cytogenetic results and complications of amniocentesis and to determine the efficacy of antenatal genetic amniocentesis. METHODS: We analyzed retrospectively maternal age, gestational age, indications, transplacental puncture, frequency, discoloration of amniotic fluid, karyotype and complications in 325 cases of prenatal genetic amniocentesis performed at Chungnam National University Hospital from January 2000 to December 2002. RESULTS: The most common age group was from 30 to 34 (31.4%) and mean age was 32.7 years old. 85.3% of cases were performed at 16th-20th gestational weeks. Abnormal maternal serum markers were the most common indication of amniocentesis (56.0%) and the second most common indication was maternal age over 35 (33.2%). Abnormal karyotypes were found in 12 cases (3.6%) and normal variants were 21 cases (6.5%). Numerical aberration were 9 cases (2.7%) and structural aberration were 3 cases (0.3%). Among the autosomal aberrations, Down syndromes were 5 cases and Edward syndrome was 1 case. Among the sex chromosomal aberrations, 47,XXX were 2 cases and Turner syndrome was 1 case. As the increasing maternal age, the incidence of abnormal karyotype was increased. Procedure-related complications occurred in 11.7% of cases and fetal loss rate was 7.4%. No significant associations were found between procedure-related complications and maternal age, gestational age, transplacental puncture, frequency, discoloration of amniotic fluid, and antibiotic treatment. CONCLUSION: Amniocentesis is useful for prenatal genetic diagnosis in pregnancies with increasing risk of chromosome aberrations, such as advanced maternal age, abnormal maternal serum markers or abnormal US findings. Further studies are necessary to identify risk factors of complications after invasive procedure.
Abnormal Karyotype ; Amniocentesis* ; Amniotic Fluid ; Biomarkers ; Chromosome Aberrations ; Chungcheongnam-do ; Cytogenetic Analysis* ; Cytogenetics* ; Diagnosis ; Female ; Gestational Age ; Humans ; Incidence ; Karyotype ; Maternal Age ; Pregnancy ; Pregnancy Trimester, Second* ; Punctures ; Retrospective Studies ; Risk Factors ; Turner Syndrome

Acute duodenal ischemia and periampullary intramural hematoma are rare complications after endoscopic retrograde cholangiopancreatography (ERCP). A 77-year-old man with splenomegaly complained of abdominal pain caused by common bile duct (CBD) stone. After successful removal of the CBD stone without immediate complications, the patient developed intramural hematoma around the ampulla of Vater along with diffuse duodenal edema. The findings were compatible with acute intestinal ischemia, and further evaluation revealed that he had underlying primary myelofibrosis. Myeloproliferative diseases are known to be significantly associated with an increased risk of thrombohemorrhagic complications. Therefore, particular attention should be given to this group of patients when a high-risk procedure such as ERCP is performed.
Abdominal Pain ; Aged ; Ampulla of Vater ; Cholangiopancreatography, Endoscopic Retrograde* ; Common Bile Duct ; Edema ; Hematoma* ; Humans ; Ischemia* ; Primary Myelofibrosis* ; Splenomegaly

Arginase inhibition exhibits beneficial effects in vascular endothelial and smooth muscle cells. In human aortic smooth muscle cells (hAoSMCs), native low-density lipoprotein (nLDL) induced the production of interleukin-8 (IL-8) that is involved in the pathogenesis of cardiovascular diseases. Therefore, we examined the effect of arginase inhibition on IL-8 production and the underlying mechanism. In hAoSMCs, reverse transcription–PCR, western blotting and immunocytochemistry with MitoTracker confirmed that arginase II was confined predominantly to mitochondria. The mitochondrial membrane potential (MMP) was assessed using tetramethylrhodamine ethyl ester. The MMP decreased upon nLDL stimulation but was restored upon arginase inhibition. MMP loss caused by nLDL was prevented by treatment with the intracellular Ca(2+) chelator BAPTA-AM. In mitochondrial Ca(2+) measurements using Rhod-2 AM, increased mitochondrial Ca(2+) levels by nLDL were inhibited upon preincubation with an arginase inhibitor. Among the polyamines, spermine, an arginase activity-dependent product, caused mitochondrial Ca(2+) movement. The nLDL-induced MMP change resulted in p38 mitogen-activated protein kinase (MAPK) phosphorylation and IL-8 production and was prevented by the arginase inhibitors BAPTA and ruthenium 360. In isolated AoSMCs from ApoE(−/−) mice fed a high-cholesterol diet, arginase activity, p38 MAPK phosphorylation, spermine and mitochondrial Ca(2+) levels and keratinocyte-derived chemokine (KC) production were increased compared with wild-type (WT) mice. However, in AoSMCs isolated from arginase II-null mice, increases in MMP and decreases in mitochondrial Ca(2+) levels were noted compared with WT and were associated with p38 MAPK activation and IL-8 production. These data suggest that arginase activity regulates the change in MMP through Ca(2+) uptake that is essential for p38 MAPK phosphorylation and IL-8 production.

Caroli's disease is a rare autosomal-recessive disorder caused by malformation of the ductal plate during embryonic development. Although it is present at birth, Caroli's disease is typically not diagnosed until between the second and fourth decades of life, as it was in the present patient. Here we report a rare case of Caroli's disease limited to one liver segment, which was initially misdiagnosed as an intraductal papillary neoplasm of the bile duct. The asymptomatic patient was treated with liver segmentectomy.
Adult ; Bile Duct Neoplasms/diagnosis/pathology ; Bile Ducts, Intrahepatic ; Caroli Disease/*diagnosis/pathology ; Diagnostic Errors ; Humans ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

BACKGROUND: Urine/serum protein electrophoresis (PEP) and immunofixation electrophoresis (IEP) for monoclonal protein (M-protein) are used for initial evaluation in patients with multiple myeloma. We evaluated the prognostic significance of M-proteinuria status and its association with other prognostic factors. METHODS: Between December 2002 and December 2004, 64 de novo symptomatic multiple myeloma patients with intact immunoglobulin (Ig) type were divided into two groups according to their initial urine PEP/IEP findings. RESULTS: Twenty-seven patients with undetectable or free light-chains only were classified into F group, and 37 with whole Ig with or without light-chains were classified into W group. The two groups were similar in sex, age, performance, azotemia, beta2-microglobulin, stage and treatment, but M-protein concentration was significantly higher in the W than in F group (5.1 vs 1.3g/dL, P<0.01). The overall response rate was significantly higher in F group than in W group (80.8% vs 63.6%, P=0.02), whereas the 2-year OS rate did not differ significantly between the groups (81.0% vs 57.7%, P=0.15). CONCLUSION: Monoclonal proteinuria is helpful in identifying patients with advanced disease and poorer prognosis in multiple myeloma.
Azotemia ; Electrophoresis ; Humans ; Immunoglobulins* ; Multiple Myeloma* ; Prognosis ; Proteinuria*