Journal of Korean medical science
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J. Korean Med. Sci. · Oct 2010
Incidence of atazanavir-associated hyperbilirubinemia in Korean HIV patients: 30 months follow-up results in a population with low UDP-glucuronosyltransferase1A1*28 allele frequency.
Hyperbilirubinemia is frequently observed in Caucasian HIV patients treated with atazanavir. UDP-glucuronosyltransferase 1A1 polymorphism, UGT1A1*28, which is associated with atazanavir-induced hyperbilirubinemia, is less common in Asians than in Caucasians. However, little is known about the incidence of atazanavir-associated hyperbilirubinemia in Asian populations. ⋯ The cumulative incidence of severe (grade 3-4) hyperbilirubinemia was 21%, 41%, 66%, and 75%, at 3, 12, 24, and 30 months, respectively. However, the point prevalence of severe hyperbilirubinemia did not increase with time and remained around 25%. Our data suggest that atazanavir-associated hyperbilirubinemia is common but transient in a population with low UGT1A1*28 allele frequency.
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J. Korean Med. Sci. · Oct 2010
Case ReportsMassive paradoxical air embolism in brain occurring after central venous catheterization: a case report.
Cerebral air embolism is a rare but fatal complication of central venous catheterization. Here, we report a case of paradoxical cerebral air embolism associated with central venous catheterization. ⋯ Brain MR imaging and CT revealed acute infarction with multiple air bubbles on the side of catheter insertion. The possibility of cerebral air embolism should be considered in patients developing neurological impairment after central venous catheterization, and efforts should be made to limit cerebral damage.
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J. Korean Med. Sci. · Oct 2010
Case ReportsHereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007). ⋯ The results showed the R75W mutation of the GJB2 gene in both. In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma. To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.
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J. Korean Med. Sci. · Oct 2010
Case ReportsThe common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti.
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-κB essential modulator (NEMO) located at Xq28 is believed to play a role in pathogenesis and the mutation occurs mostly in female patients due to fatal consequence of the mutation in males in utero. This study was designed to identify the common NEMO rearrangement in four Korean patients with IP. ⋯ This method enabled us to discriminate between NEMO and pseudogene rearrangements. Furthermore, all of the patients showed skewed XCI patterns, indicating pathogenicity of IP was due to cells carrying the mutant X chromosome. This is the first report of genetically confirmed cases of IP in Korea.
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J. Korean Med. Sci. · Oct 2010
Case ReportsJervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.
The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few clinical case reports on JLNS in Korea; however, these were not confirmed by a genetic study. ⋯ V307V). Each mutation in KCNQ1 was identified on the maternal and paternal side. With β-blocker therapy the patient has remained symptom-free for three and a half years.