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1.
Korean Journal of Pediatrics ; : S80-S83, 2016.
Article Dans Anglais | WPRIM | ID: wpr-201855

Résumé

Isolated anomalous right coronary artery originating from the pulmonary artery (ARCAPA) is a rare congenital coronary anomaly that is asymptomatic and discovered incidentally in most cases. ARCAPA is generally not considered a fatal defect in infancy or childhood, although cases of sudden death have been reported. Here, we report a 2-month-old female infant who presented with a prolonged fever that was determined to be caused by rhinovirus infection. Myocardial ischemia of the left ventricular posterior wall was already seen on echocardiography, and ARCAPA was discovered incidentally. The patient underwent successful surgical reimplantation of the right coronary artery to the aortic root to re-establish dual ostial circulation.


Sujets)
Femelle , Humains , Nourrisson , Maladies asymptomatiques , Anomalies congénitales des vaisseaux coronaires , Vaisseaux coronaires , Mort subite , Échocardiographie , Fièvre , Ischémie myocardique , Artère pulmonaire , Réimplantation , Rhinovirus
2.
Korean Circulation Journal ; : 443-448, 2015.
Article Dans Anglais | WPRIM | ID: wpr-103183

Résumé

In order to perform large-scale genetic studies of Kawasaki disease (KD) in Korea, the Korean Kawasaki Disease Genetics Consortium (KKDGC) was formed in 2008 with 10 hospitals. Since the establishment of KKDGC, there has been a collection of clinical data from a total of 1198 patients, and approximately 5 mL of blood samples per patient (for genomic deoxyribonucleic acid and plasma isolation), using a standard clinical data collection form and a nation-wide networking system for blood sample pick-up. In the clinical risk factor analysis using the collected clinical data of 478 KD patients, it was found that incomplete KD type, intravenous immunoglobulin (IVIG) non-responsiveness, and long febrile days are major risk factors for coronary artery lesions development, whereas low serum albumin concentration is an independent risk factor for IVIG non-responsiveness. In addition, we identified a KD susceptibility locus at 1p31, a coronary artery aneurysm locus (KCNN2 gene), and the causal variant in the C-reactive protein (CRP) promoter region, as determining the increased CRP levels in KD patients, by means of genome-wide association studies. Currently, this consortium is continually collecting more clinical data and genomic samples to identify the clinical and genetic risk factors via a single nucleotide polymorphism chip and exome sequencing, as well as collaborating with several international KD genetics teams. The consortium-based approach for genetic studies of KD in Korea will be a very effective way to understand the unknown etiology and causal mechanism of KD, which may be affected by multiple genes and environmental factors.


Sujets)
Humains , Anévrysme , Protéine C-réactive , Vaisseaux coronaires , Collecte de données , ADN , Exome , Génétique , Étude d'association pangénomique , Immunoglobulines , Immunoglobulines par voie veineuse , Corée , Maladie de Kawasaki , Plasma sanguin , Polymorphisme de nucléotide simple , Régions promotrices (génétique) , Facteurs de risque , Sérumalbumine
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