Journal of Korean medical science
-
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.
-
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.
-
J. Korean Med. Sci. · Oct 2010
Toll-like receptors and antimicrobial peptides expressions of psoriasis: correlation with serum vitamin D level.
To evaluate the association of Toll-like receptors (TLRs), antimicrobial peptides (AMPs) and vitamin D receptors (VDRs) in psoriasis, lesional (PP) and perilesional skin (PN) from psoriasis, atopic dermatitis (AD) patients and healthy controls (NN) were studied by immunohistochemistry. Compared with PN, AD and NN skin, dysregulated expression of TLRs, AMPs and VDR was detected in PP skin. Noteworthy, our results showed altered correlation between TLR2 and VDR expression in PP and PN skin. ⋯ Negative correlation was found between TLR2 and VDR expression in the PP skin of VDD groups. However, positive correlation was noted in the PP skin of VDS groups. Based on the present results, therapies targeting the activity of TLRs, AMPs and vitamin D, including modulation of the TLR-VDR pathways, might provide new therapeutic approaches to the psoriasis and other inflammatory skin diseases.
-
J. Korean Med. Sci. · Sep 2010
Comparative StudyBirth outcomes of Koreans by birthplace of infants and their mothers, the United States versus Korea, 1995-2004.
The acculturation effect of immigrant women on birth outcomes varies by race. We examined birth outcomes of three groups of births for the period 1995-2004, USA births to the USA-born Korean mothers, USA births to the non-USA-born Korean mothers, and births in Korea. In singleton USA births to both Korean parents, average birth weight was 3,294 g for the USA-born Korean mothers and 3,323 g for the non-USA-born Korean mothers. ⋯ This difference might have reflected a significantly lower educational attainment of mothers in Korea compared to Korean mothers in the USA. Low birth weight rate was consistently lower in infants born in Korea compared to the USA-born, but this difference became less, 4.2% and 4.6% respectively by 2004. These observations suggest that in the USA acculturation effect of Korean immigrants on birth outcomes is negligible.
-
J. Korean Med. Sci. · Sep 2010
Case ReportsTwo cases of transfusion-related acute lung injury triggered by HLA and anti-HLA antibody reaction.
Transfusion-related acute lung injury (TRALI) is a serious adverse transfusion reaction that is presented as acute hypoxemia and non-cardiogenic pulmonary edema, which develops during or within 6 hr of transfusion. Major pathogenesis of TRALI is known to be related with anti-HLA class I, anti-HLA class II, or anti-HNA in donor's plasma. However, anti-HLA or anti-HNA in recipient against transfused donor's leukocyte antigens also cause TRALI in minor pathogenesis and which comprises about 10% of TRALI. ⋯ In our cases, both patients presented with dyspnea and hypoxemia during transfusion of packed red blood cells and showed findings of bilateral pulmonary infiltrations at chest radiography. Findings of patients' anti-HLA antibodies and recipients' HLA concordance indicate that minor pathogenesis may be not as infrequent as we'd expected before. In addition, second case showed that anti-HLA class II antibodies could be responsible for immunopathogenic mechanisms, alone.