Journal of Korean medical science
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J. Korean Med. Sci. · Sep 2013
Association of polymorphisms in the vitamin D receptor promoter with idiopathic short stature.
The genetic alterations of vitamin D receptor (VDR) are related with the growth of long bone. There were a lot of reports regarding an association of polymorphisms in the VDR promoter with many disorders, but not with idiopathic short stature (ISS). We investigated the association of them with ISS. ⋯ We selected two single nucleotide polymorphisms (SNPs) from VDR promoter (rs11568820 at the Cdx-2 binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) as candidates, respectively. In genotype analysis, the frequency of A/A genotype at the Cdx-2 binding site locus (rs11568820) upstream of exon 1e of VDR was decreased to 6.9% in ISS patients (28.6% in controls) (P = 0.027). The genetic variation at the Cdx-2 binding site of VDR promoter can be a contributing factor of growth of height.
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J. Korean Med. Sci. · Sep 2013
Case ReportsSingle nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.
Long QT syndrome (LQTS) is characterized by the prolongation of the QT interval in ECG and manifests predisposition to life threatening arrhythmia which often leads to sudden cardiac death. We encountered a 3-generation family with 5 affected family members in which LQTS was inherited in autosomal dominant manner. ⋯ This mutation presumably resulted in a frameshift mutation, P151fs+15X. This study added a new genetic cause to the pool of mutations that lead to defected potassium ion channels in the heart.
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J. Korean Med. Sci. · Sep 2013
Sleep duration and glycemic control in patients with diabetes mellitus: Korea National Health and Nutrition Examination Survey 2007-2010.
Short sleep duration has been reported to increase the risk of diabetes. However, the influence of sleep duration on glycemic control in diabetic patients has not been clarified. In this study we evaluated the association between sleep duration and glycemic control in diabetic patients. ⋯ The adjusted odds ratio (OR) with a 95% confidence interval (CI) of worse glycemic control (HbA1c ≥7.0%) in group of sleep duration of ≥9 h/day was 1.48 (1.04-2.13) compared with the group of 7 h/day. This relationship disappeared after adjusting duration of diabetes (OR, 1.38; 95% CI, 0.93-2.03). Our results suggest that sleep duration and glycemic control in diabetic patients has U-shaped relationship which was mainly affected by duration of diabetes.
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J. Korean Med. Sci. · Sep 2013
The clinical measures associated with C-peptide decline in patients with type 1 diabetes over 15 years.
This study was done to characterize the natural course of C-peptide levels in patients with type 1 diabetes and identify distinguishing characters among patients with lower rates of C-peptide decline. A sample of 95 children with type 1 diabetes was analyzed to retrospectively track serum levels of C-peptide, HbA1c, weight, BMI, and diabetic complications for the 15 yr after diagnosis. The clinical characteristics were compared between the patients with low and high C-peptide levels, respectively. ⋯ In conclusion, C-peptide level was significantly decreased after 5 yr from diagnosis. Type 1 diabetes patients whose beta-cell functions were preserved might have low incidence of diabetic ketoacidosis. The declines of C-peptide level after diagnosis in type 1 diabetes may be associated with changes of body weight and BMI.
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J. Korean Med. Sci. · Sep 2013
Factors predictive of high-risk adenomas at the third colonoscopy after initial adenoma removal.
Evaluating predictive factors for high-risk adenomas at the third colonoscopy based on two prior colonoscopies may help evaluate high-risk adenoma at the third colonoscopy. We analyzed clinical data of 131 patients at Severance Hospital from January 1997 to January 2011. All of them underwent two subsequent colonoscopies after removal of adenomas during an initial colonoscopy. ⋯ Among the 67 patients who had high-risk adenoma only once at the first or second colonoscopy, 15 (22.4%) patients had high-risk adenoma at the third colonoscopy but among the 44 patients without high-risk adenoma at the first and second colonoscopies, only 1 (2.3%) patient had high-risk adenoma at the third colonoscopy (P < 0.001). A multivariate time dependent covariate Cox regression analysis confirmed that high-risk adenoma at the first and/or second colonoscopy (HR, 9.56; 95% CI, 2.37-38.54; P = 0.002) was independent predictor of high-risk adenoma at the third colonoscopy. Given these findings, data from two prior colonoscopies, not one prior examination, may help identify high-risk populations at the third colonoscopy who require careful colonoscopic surveillance.