• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.79-85
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• 2016

Purpose: This study aimed to analyze genetic mutations, clinical manifestations, and treatment of patients with benign HPA in Korea. Methods: This case series study involved ten HPA patients who were referred to our hospital because of high phenylalanine concentration. We investigated their demographic features, clinical manifestations, and mutations of the PAH gene through direct DNA sequencing. Results: Among ten patients with benign HPA, two pairs of patients were related (father-daughter, mother-daughter relationship) cases, and all of them showed no specific clinical manifestations or notable past history. Their plasma phenylalanine levels ranged between 1.2 and 4.2 mg/dL. In the tetrahydrobiopterin (BH4) loading test, all patients were nonresponsive to BH4. In the confirmation test of PAH mutation analysis, we identified eleven different alleles out of twelve. The most common allele was R53H (c.158G> A). In addition, two novel PAH gene mutations, V423A (c.1268T>C) and V51A (c.152T>C), were identified. Although the patients did not receive any pharmacologic treatment or continuous phenylalanine restriction dietary therapy, their neurocognitive development was normal. Moreover, on serial outpatient follow-up tests, all patients maintained phenylalanine levels below 6 mg/dL. Conclusion: This study is the first in Korea to analyze benign HPA patients. All patients with benign HPA could maintain phenylalanine levels below 6 mg/dL with normal neurocognitive development, without continuous therapy. Therefore, performing mutation analysis and distinguishing benign HPA from phenylketonuria (PKU) are important to help improve life quality in patients with benign HPA by avoiding unnecessary lifelong therapy.

• The Korean Journal of Nuclear Medicine
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• v.34 no.6
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• pp.487-496
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• 2000

Purpose: The aim of this study is to investigate the reproducibility of the quantitative assessment of segmental wall motion and systolic thickening provided by an automatic quantitation algorithm. Materials and Methods: Tc-99m-MIBI gated myocardial SPECT with dipyridamole stress was performed in 31 patients with known or suspected coronary artery disease (4 with single, 6 with two, 11 with triple vessel disease; ejection fraction $51{\pm}14%$) twice consecutively in the same position. Myocardium was divided into 20 segments. Segmental wall motion and systolic thickening were calculated and expressed in mm and % increase respectively, using $AutoQUANT^{TM}$ software. The reproducibility of this quantitative measurement of wall motion and thickening was tested. Results: Correlations between repeated measurements on consecutive gated SPECT were excellent for wall motion (r=0.95) and systolic thickening (r=0.88). On Bland-Altman analysis, two standard deviation was 2 mm for repeated measurement of segmental wall motion, and 20% for that of systolic thickening. The weighted kappa values of repeated measurements were 0.807 for wall motion and 0.708 for systolic thickening. Sex, perfusion, or segmental location had no influence on reproducibility. Conclusion: Segmental wall motion and systolic thickening quantified using $AutoeUANT^{TM}$ software on gated myocardial SPECT offers good reproducibility and is significantly different when the change is more than 2 mm for wall motion and more than 20% for systolic thickening.

• Tuberculosis and Respiratory Diseases
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• v.48 no.6
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• pp.944-955
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• 2000

Background : In patients with chronic obstructive pulmonary disease(COPD), several factors have been associated with a poor prognosis. These include old age, low $FEV_1$ low diffusing capacity, high alveolar-arterial oxygen pressure difference, and finally cor pulmonale. This study was done to investigate if the ECG signs suggesting cor pulmonale were independent prognostic factors in patients with COPD. Method : We analyzed ECG, pulmonary function data and arterial blood gas values in 61 patients who were admitted through the emergency department with an acute exacerbation of COPD. The ECG signs reflecting cor pulmonale were right strial overloading(RAO), right bundle branch block, right ventricular hypertrophy and low-voltage QRS. The 61 patients were divided into 2 groups ; group I with no ECG signs(n=36) and group II with one or more ECG signs(n=25) suggesting cor, pulmonale. Results : Poor, prognostic factors by univariate analysis were low $FEV_1$, $FEV_1$ % pred., VC % pred., DLco, DLco % pred., $PaO_2$ and $SaO_2$ high $PaCO_2$ presence of ECG signs reflecting cor pulmonale, presence of mental status change, use of mechanical ventilator, and long term use of glucocorticoid. A multivariate analysis indicated that age(risk ratio=1.13, 95% confidence interval 1.05-1.23), DLco % pred. (risk ratio=0,97. 95% confidence interval 0.94-0.99), $PaO_2$ (risk ratio=0.95, 95% confidence interval 0.90-0.99) and RAO(risk ratio=5.27, 95% confidence interval 1.40-19.85) were independent prognostic factors of survival. There was a significant difference in survival between the patients with and without RAO(p=0.038). The survival rates at 1, 2, and 5 years were 94.5%. 81.4%, and 50.0% in patients without RAO and 82.4%, 70.6%, and 27.5% in patients with RAO, respectively. Conclusion : These results suggest that the presence of ECG signs reflecting cor pulmonale is a predictor of survival and that RAO of these ECG signs is a significant independent predictor of survival in patients with COPD.