Acute Hemorrhagic Leukoencephalopathy in a Patient with Influenza A and B Coinfection

Acute hemorrhagic leukoencephalopathy is a rare condition associated with the influenza virus, but the role of influenza in this condition has not been clarified. We experienced a patient with influenza A and B virus co-infection who initially presented mild gastrointestinal symptoms and rapidly progressed to coma. Magnetic resonance imaging showed severe brain edema and multiple intracranial hemorrhagic lesions. The patient was treated with oseltamivir and corticosteroid, and her clinical course improved without neurological sequelae.

Acute Hemorrhagic Leukoencephalopathy in a Patient with Influenza A and B Coinfection

Acute hemorrhagic leukoencephalopathy is a rare condition associated with the influenza virus, but the role of influenza in this condition has not been clarified. We experienced a patient with influenza A and B virus co-infection who initially presented mild gastrointestinal symptoms and rapidly progressed to coma. Magnetic resonance imaging showed severe brain edema and multiple intracranial hemorrhagic lesions. The patient was treated with oseltamivir and corticosteroid, and her clinical course improved without neurological sequelae.

Recurrent Cerebral Infarction due to Rhino-Orbito-Cerebral Mucormycosis / 대한의진균학회지

Rhino-orbito-cerebral mucormycosis (ROCM) is caused by invasion of orbital and intracranial structures directly or through the blood vessels of fungi of the Order Mucorales. It is the most fulminant form of mucormycosis and can manifest brain abscess, cranial nerve palsies, thrombosis or aneurysm, as well as sinusitis, facial or nasal deformity. We report one ROCM case complicated by recurrent cerebral infarctions after involvement of cavernous sinus and meningeal inflammation, despite treatment with surgical debridement and high dose intravenous amphotericin B.

Gene Set Analyses of Genome-Wide Association Studies on 49 Quantitative Traits Measured in a Single Genetic Epidemiology Dataset

Gene set analysis is a powerful tool for interpreting a genome-wide association study result and is gaining popularity these days. Comparison of the gene sets obtained for a variety of traits measured from a single genetic epidemiology dataset may give insights into the biological mechanisms underlying these traits. Based on the previously published single nucleotide polymorphism (SNP) genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. Each analysis result was subjected to subsequent gene set analyses based on Gene Ontology (GO) terms using gene set analysis software, GSA-SNP, identifying a set of GO terms significantly associated to each trait (pcorr < 0.05). Pairwise comparison of the traits in terms of the semantic similarity in their GO sets revealed surprising cases where phenotypically uncorrelated traits showed high similarity in terms of biological pathways. For example, the pH level was related to 7 other traits that showed low phenotypic correlations with it. A literature survey implies that these traits may be regulated partly by common pathways that involve neuronal or nerve systems.

Cerebral Achromatopsia After Posterior Cerebral Artery Infarction

Cerebral achromatopsia, which refers to a loss of color vision, is a rare complication of posterior circulation stroke. We report two patients who presented with achromatopsia and dyschromatopsia (incomplete form of achromatopsia) respectively after acute posterior cerebral artery infarction. Lingual and fusiform gyri within the occipito-temporal area are known to be responsible for color perception.

Bruxism Secondary to Hypoxic Brain Injury Treated With Botulinum Toxin-A

No abstract available.

Performance Comparison of Two Gene Set Analysis Methods for Genome-wide Association Study Results: GSA-SNP vs i-GSEA4GWAS

Gene set analysis (GSA) is useful in interpreting a genome-wide association study (GWAS) result in terms of biological mechanism. We compared the performance of two different GSA implementations that accept GWAS p-values of single nucleotide polymorphisms (SNPs) or gene-by-gene summaries thereof, GSA-SNP and i-GSEA4GWAS, under the same settings of inputs and parameters. GSA runs were made with two sets of p-values from a Korean type 2 diabetes mellitus GWAS study: 259,188 and 1,152,947 SNPs of the original and imputed genotype datasets, respectively. When Gene Ontology terms were used as gene sets, i-GSEA4GWAS produced 283 and 1,070 hits for the unimputed and imputed datasets, respectively. On the other hand, GSA-SNP reported 94 and 38 hits, respectively, for both datasets. Similar, but to a lesser degree, trends were observed with Kyoto Encyclopedia of Genes and Genomes (KEGG) gene sets as well. The huge number of hits by i-GSEA4GWAS for the imputed dataset was probably an artifact due to the scaling step in the algorithm. The decrease in hits by GSA-SNP for the imputed dataset may be due to the fact that it relies on Z-statistics, which is sensitive to variations in the background level of associations. Judicious evaluation of the GSA outcomes, perhaps based on multiple programs, is recommended.

Bilateral Dysgeusia as a Presenting Symptom of the Unilateral Thalamic Infarction

No abstract available.

Comparison of Erythrocyte Traits Among European, Japanese and Korean

Erythrocyte traits are heritable and indirect indicators of blood diseases caused by erythrocyte, but their genetic factors are largely unknown. So we performed genome-wide association study in 8,842 Korean individuals to identify genetic factors influencing erythrocyte traits. We identified 40 associations for three erythrocyte traits at genome-wide significance levels (p<1x10-6). We compared these associated loci with those reported in genome-wide association studies of European and Japanese. Our findings include previously identified loci (HBS1L-MYB, TMPRSS6, USP49 and CCND3) in other studies and novel associations (MRDS1/OFCC1, CSDE1, NRAS and 8 other loci). For example, SNP rs4895440 of HBS1L-MYB intergenic region on chromosome 6q23.3 is one of the most associations influencing erythrocyte traits (p=8.33x10-27).

Isolation and characterization of avian metapneumovirus from chickens in Korea

Avian metapneumovirus (aMPV) causes upper respiratory tract infections in chickens and turkeys. Although the swollen head syndrome (SHS) associated with aMPV in chickens has been reported in Korea since 1992, this is the study isolating aMPV from chickens in this country. We examined 780 oropharyngeal swab or nasal turbinate samples collected from 130 chicken flocks to investigate the prevalence of aMPV and to isolate aMPV from chickens from 2004-2008. Twelve aMPV subtype A and 13 subtype B strains were detected from clinical samples by the aMPV subtype A and B multiplex real-time reverse transcription polymerase chain reaction (RRT-PCR). Partial sequence analysis of the G glycoprotein gene confirmed that the detected aMPVs belonged to subtypes A and B. Two aMPVs subtype A out of the 25 detected aMPVs were isolated by Vero cell passage. In animal experiments with an aMPV isolate, viral RNA was detected in nasal discharge, although no clinical signs of SHS were observed in chickens. In contrast to chickens, turkeys showed severe nasal discharge and a relatively higher titer of viral excretion than chickens. Here, we reveal the co-circulation of aMPV subtypes A and B, and isolate aMPVs from chicken flocks in Korea.