Yonsei medical journal
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Yonsei medical journal · May 2012
Case ReportsA Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. ⋯ Coagulation test results were not remarkable. Direct sequencing of MYH9 revealed that he was heterozygous for a mutation in exon 1, which was a 97T>A substitution mutation affecting codon 33, substituting tryptophan with arginine (Trp33Arg). Family study showed that both of his parents had normal phenotype and genotypes, indicating a de novo occurrence of the mutation in the proband.
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Yonsei medical journal · May 2012
Health related quality of life in common variable immunodeficiency.
To quantify the health related quality of life in primary immunodeficiency patients. ⋯ Our data underlined the importance of conducting a periodical health related quality of life assessment on patients with primary antibody deficiencies and, moreover, stressed the necessity of providing psychological support to at risk patients.
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Yonsei medical journal · May 2012
Estimating average glucose levels from glycated albumin in patients with end-stage renal disease.
In patients with diabetic end stage renal disease (ESRD), glycated albumin (GA) reflects recent glycemic control more accurately than glycated hemoglobin (HbA1c). We evaluated the relationship between GA and average blood glucose (AG) level and developed an estimating equation for translating GA values into easier-to-understand AG levels. ⋯ Compared to HbA1c, serum GA levels were better correlated with AG levels. Using the estimating equation, an average blood glucose level of 155-160 mg/dL could be matched to a GA value of 18-19% in patients with ESRD.
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Yonsei medical journal · May 2012
Prognostic factors for endotracheal silicone stenting in the management of inoperable post-intubation tracheal stenosis.
Stenting has been developed to deal with airway stenosis and is applicable in patients with post-intubation tracheal stenosis (PITS) in whom surgery would not be indicated. The purpose of this study was to investigate the prognostic factors in inoperable patients in whom a silicone stent was inserted due to PITS. ⋯ Among those patients undergoing silicone stenting due to PITS, the stent could be successfully removed when patients do not have cardiovascular disease and stented within 6 months after intubation.
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This study aimed to estimate the prevalence and incidence of cerebrovascular disease (CVD) and stroke in Korean male adolescents. ⋯ We observed ischemic and hemorrhagic stroke, each accounting for approximately half of cases, and high incidence of Moyamoya disease with low incidence of arteriovenous malformation in Korean male adolescents.