A new strategy for transcatheter closure of patent ductus arteriosus with recent-generation devices / 소아과

PURPOSE: The aim of this study was to assess the efficacy and safety of recent-generation patent ductus arteriosus (PDA) closure devices applied by a new selection strategy according to the characteristics of each PDA. METHODS: From February 2003 to January 2006, 138 patients underwent transcatheter closure of PDA (study group). According to the size and morphology of each ductus, a COOK Detachable Coil or "flex" PFM Nit-Occlud was used for a small ductus (group 1, n=43); "medium" PFM Nit-Occlud (group 2, n=49) for a moderate ductus; and an Amplatzer Duct Occluder (group 3, n=46) for a large ductus. The 83 patients who underwent transcatheter closure of PDA from February 2000 to January 2003 were defined as the comparison group. The Qp/Qs ratio, pulmonary/aorta pressure ratio, and MD of the ductus were compared. Immediate and follow-up results including residual shunts and complications were also evaluated and compared among groups. RESULTS: In all 138 patients, complete occlusions were confirmed without major complications, while procedure failure (n=2, 2.2%), device embolization (n=1, 1.1%), and persistent residual shunt (n=4, 4.5%) were documented in the comparison group. Total complication rates were lower in the study group than in the comparison group (study group, 1.4%; comparison group, 9.0%; P<0.05). CONCLUSION: A novel strategy adopting the merits of various recent-generation devices for transcatheter closure of PDA provides excellent clinical results with minimal risk.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.

The Effect of Nitric Oxide Donor on the Endogenous Endothelin-1 Expression in Renal Ischemia-Reperfusion Injury

PURPOSE: The balance between nitric oxide (NO) and endothelin-1 (ET-1) production is essential to vascular function in controlling organ perfusion, and an elevated ET-1 in the peritubular capillary network, following renal transplantation, can be associated with renal allograft rejection. The administration of a nitric oxide donor during the preischemic period has been shown to protect the kidneys against an ischemia-reperfusion injury, but the mechanism underlying this therapeutic benefit remains to be completely understood. Our hypothesis is that the early administration of the NO donor, sodium nitroprusside (SNP), may suppress ET-1, and thereby improve the renal function in an ischemia-reperfusion injury. METHODS: Sprague Dawley rats were subjected to 60 minutes of renal warm ischemia, followed by a contralateral nephrectomy. Renal biopsies were performed prior to ischemia and reperfusion, and at 1 and 48 hours after the reperfusion. The animals were divided into 4 groups: a sham group, without warm ischemia, an early SNP group (SNP given before ischemia), a late SNP group (SNP given before reperfusion) and an ischemic control group. The ET-1 expression was assessed by a semiquantitative analysis by immunohistochemical staining with the ET-1 monoclonal antibody and Hematoxylin-Eosin stain. The serum creatinine was measured at 48 hours after the reperfusion. RESULTS: There were significant improvements in all parameters of the early SNP group compared with those in the late SNP and ischemic control groups, but there was no difference between the late SNP and ischemic control groups. CONCLUSION: These data suggest that the early administration of SNP in renal ischemia-reperfusion improves the renal function by suppressing the expression of ET-1.