• 대한유전성대사질환학회지
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• 제22권1호
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• pp.9-14
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• 2022

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.

• Radiation Oncology Journal
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• 제27권3호
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• pp.111-119
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• 2009

목 적: 국소 진행된 직장암에서 수술 전 동시항암방사선치료 후 정확한 치료 반응 평가는 매우 중요하다. 본 연구는 국소 진행된 직장암에서 $^{18}F$-FDG PET/CT를 이용한 수술 전 항암방사선치료의 반응성 예측에 대해 알아보고자 하였다. 대상 및 방법: 2006년 8월부터 2008년 1월까지 원자력의학원에서 국소 진행된 직장암으로 수술 전 항암방사선치료를 시행한 20명의 환자를 대상으로 전향적 연구를 시행하였다. 방사선 치료는 한 회에 1.8 Gy씩 하루 1회 주 5회의 일정으로 총 50.4 Gy 시행되었고, 항암 치료는 3주 간격으로 3회 시행되었다. 모든 환자는 치료 전과 항암방사선치료 종료 6주 후에 각각 $^{18}F$-FDG PET/CT 촬영을 하였다. 모든 환자는 수술을 시행 받았고 수술 후 절제된 조직을 통해 Dworak 분류에 따른 종양의 치료에 대한 반응 정도를 평가하였다. 결 과: 20명 중 11명의 환자가 Dworak 분류에 따라 반응군에 속했으며, 나머지 9명은 비반응군으로 분류되었다. 수술 후 $SUV_{max}$값과 metabolic volume (SUV가 2.5 이상인 병변의 용적)은 수술 전 $SUV_{max}$값과 metabolic volume보다 현저히 낮았다. 그러나 반응군에서 metabolic volume의 변화를 제외하고는 통계적으로 유의한 차이는 보이지 않았다. 이 연구에서는 치료 후 반응군과 비반응군을 구분하는 cut-off value는 $SUV_{max}$가 67% 감소하는 지점으로 나타났다. 이 cut-off value를 이용하여 반응군과 비반응군을 구분하는 경우 민감도는 45.5%, 특이도는 88.9%였으며, 양성 예측률과 음성 예측률은 각각 71.4% 및 53.8%였다. 결 론: 비록 본 연구에서는 통계적으로 유의한 결과를 얻지 못하였지만, 다른 연구들을 통해 봤을 때 국소 진행된 직장암 환자에서 수술 전 방사선 및 항암 병합 요법의 효과를 판정하고 예측하는데 있어서 $^{18}F$-FDG PET/CT를 이용한 검사가 유용할 것으로 생각된다.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.52-57
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• 2018

Purpose: Rhabdomyolysis is a metabolic disorder in which the content of damaged muscle cells is released into plasma. Its manifestations include asymptomatic, myalgia, gross hematuria, and complications of acute kidney injury. Because of limited data on rhabdomyolysis in children, we performed this study to determine clinical characteristics of rhabdomyolysis in children. Methods: We retrospectively reviewed the records of patients with rhabdomyolysis who were treated at the Pusan National University Children's hospital from January 2011 to July 2016. The diagnostic criteria were serum myoglobin level of ${\geq}80ng/mL$, exclusive of acute myocardial injury, cardiac arrest, and brain damage. Results: Forty-five patients were enrolled; mean age, $116{\pm}68$ months. Of these, 35 were boys and 10 were girls. Twenty-six patients experienced myalgia and 12 patients showed gross hematuria. Among these, seven patients initially had both myalgia and gross hematuria. The most common causes of rhabdomyolysis were infection, physical exertion, prolonged seizures, metabolic abnormalities, and drug addiction. Acute kidney injury (AKI) was the most common complication, followed by disseminated intravascular coagulation. Thirty-seven patients improved with sufficient fluid supply but two patients underwent hemodialysis due to deterioration of kidney function. Gross hematuria, positive occult blood test, and positive urine protein were more common in patients with AKI than in those without AKI. Conclusions: In children, infection was the most common cause of rhabdomyolysis. Most patients recovered by sufficient fluid therapy. However, in severe cases, especially in patients with underlying kidney disease, hemodialysis may be necessary in the present study.

• 대한유전성대사질환학회지
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• 제15권3호
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• pp.118-126
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• 2015

Background and objectives: A deficiency of BH4 (tetrahydrobiopterin) not only causes the classical phenylketonuric phenotype, but also is the source of neurological signs and symptoms due to impaired syntheses of L-Dopa and serotonin. The treatment of BH4 deficiency usually consists of replacement with BH4 and the neurotransmitters. We performed this study to finding out long-term follow-up clinical symptoms and prognosis of BH4 deficiency. Methods: Clinical and biochemical, genetic analysis were done retrospectively from January 1999 to July 2015 in Soonchunhyang University Hospital. Results: In our study, total 207 patients were confirmed to hyperphenylalaninemia. Among them, 10 patients were BH4 deficiency. 9 patients were 6-pyruvoyl-tetrahydropterin (PTPS) deficiency and one patient was dihydropteridine reductase (DHPR) deficiency. The patients who received delayed treatment, most of our patients suffered from severe psychomotor retardation, hypotonia and seizure. c.259C>T mutation was identified most commonly in PTPS gene analysis. A patient with DHPR deficiency had a mental retardation, dystonia, seizure. His seizure semiology was dialeptic feature. His EEG showed generalized spike wave patterns. All patients had treated with tolerate L-Dopa, BH4 and 5-hydroxytryptophan. Most of the early treated patients have a good tolerance for drugs well. But some patients had neurologic symptoms, despite early detection and treatment. Conclusion: BH4 deficiency patients who had delayed treatment tend to have severe psychomotor problem and neurologic deficits.

• Journal of Korean Biological Nursing Science
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• 제12권1호
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• pp.58-62
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• 2010

Purpose: The purpose of this study was to assess the difference of metabolic syndrome (MS) risk factors according to the MS diagnosis in the age of fifties women. Methods: Forty-two subjects (non metabolic syndrome 30, metabolic syndrome 12) were recruited from the health promotion center of a tertiary care hospital in an urban city. MS was defined by third report of the national cholesterol education program (NCEP) expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) (ATP III), and abdominal obesity was determined by Asia-Pacific criteria in waist circumference. Results: The prevalence of MS by definition of NCEP-ATP III and Asia-Pacific criteria in waist circumference was 28.6% in the age of fifties women. The educational level and the median HDL-cholesterol were significantly lower in the MS patient group than in the Non-MS group. The median of weight, triglyceride, and fasting glucose were significantly higher in the MS patient group than in the Non-MS group. Conclusion: These results indicate that the nursing care should be focused on weight, triglyceride, HDL-cholesterol, and fasting glucose of the MS patients in the fifties women.

• 한국의학물리학회:학술대회논문집
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• 한국의학물리학회 2003년도 제27회 추계학술대회
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• pp.72-72
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• 2003

Purpose: To prove feasibility of proton chemical shift imaging (lH CSI) during stereotactic procedure, authors performed IH CSI in combination with a stereotactic headframe and selected targets according to local metabolic information, evaluated the pathologic results. Methods: The 1H CSI directed stereotactic biopsy was performed in five patients. 1H CSI was performed before conventional stereotactic MRI with gadolinium enhancement for stereotactic coordinates. The metabolite images expressed as integral ratios, Cho/Cr and Lac/Cr, were displayed in different colors. The stereotactic target coordinates were correlated with the coordinates from the 1H CSI images. Results: The final pathologic results obtained were concordant with the local metabolic information from 1H CSI. We believe that 1H CSI-directed stereotatic biopsy has the potential to significantly improve the accuracy of stereotactic biopsy targeting. Conclusions : Metabolic signals derived from 1H CSI could give us more direct clues for stereotactic target selection during the subsequent conventional stereotactic MR imaging. 1H CSI was feasible with the stereotatic headframe in place. The final pathologic results obtained were concordant with the local metabolic information from 1H CSI. Acknowledgement: This study was supported by a grant of the Center for Functional and Metabolic Imaging Technology, Ministry of Health & Welfare, Republic of Korea (02-PJ3-PG6-EV07-0002).

• 대한유전성대사질환학회지
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• 제6권1호
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• pp.40-51
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• 2006

Purpose: A personal computer-based system was developed for automated metabolic profiling of organic aciduria and aminoacidopathy by gas chromatography-mass spectrometry and data interpretation for the diagnosis of metabolic disorders Methods: For automatic data profiling and interpretation, we compiled retention time, two target ions and their intensity ratio for 77 organic acids and 13 amino acids metabolites. Metabolites above the cut-off values were flagged as abnormal compounds. The data interpretation was a based on combination of flagged metabolites. Diagnostic or index metabolites were categorized into three groups, "and", "or" and "NO" compiled for each disorder to improve the specificity of the diagnosis. Groups "and" and "or" comprised essential and optional compounds, respectively, to reach a specific diagnosis. Group "NO" comprised metabolites that must be absent to make a definite diagnosis. We tested this system by analyzing patients with confirmed Propionic aciduria and others. Results: In all cases, the diagnostic metabolites were identified and correct diagnosis was founded to be made among the possible disease suggested by the system. Conclusion: The study showed that the developed method could be the method of choices in rapid, sensitive and simultaneous screening for organic aciduria and amino acidopathy with this simplified automated system.

• Biomolecules & Therapeutics
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• 제30권1호
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• pp.28-37
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• 2022

Treatment options for patients with chronic kidney disease (CKD) are currently limited; therefore, there has been significant interest in applying mesenchymal stem/stromal cell (MSC)-based therapy to treat CKD. However, MSCs harvested from CKD patients tend to show diminished viability and proliferation due to sustained exposure to uremic toxins in the CKD environment, which limits their utility for cell therapy. The application of melatonin has been demonstrated to improve the therapeutic efficacy of MSCs derived from and engrafted to tissues in patients suffering from CKD, although the underlying biological mechanism has not been elucidated. In this study, we observed overexpression of hexokinase-2 (HK2) in serum samples of CKD patients and MSCs harvested from an adenine-fed CKD mouse model (CKD-mMSCs). HK2 upregulation led to increased production levels of methylglyoxal (MG), a toxic metabolic intermediate of abnormal glycolytic processes. The overabundance of HK2 and MG was associated with impaired mitochondrial function and low cell proliferation in CKD-mMSCs. Melatonin treatment inhibited the increases in HK2 and MG levels, and further improved mitochondrial function, glycolytic metabolism, and cell proliferation. Our findings suggest that identifying and characterizing metabolic regulators such as HK2 in CKD may improve the efficacy of MSCs for treating CKD and other kidney disorders.

• Asian Pacific Journal of Cancer Prevention
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• 제17권4호
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• pp.2119-2123
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• 2016

Background: There is an established link between obesity related metabolic derangement and colorectal cancer development. Recently, we developed a metabolic-colorectal cancer risk score. In this follow-up study, we studied its association with colorectal neoplasm by measuring two major metabolic syndrome biomarkers, leptin and adiponectin. Objectives: To evaluate the serum levels of leptin and adiponectin in patients with colorectal polyps and colorectal cancer and to determine any correlation with metabolic risk score. Results: In total, 130 individuals were studied: 30 controls without colonic pathology, 18 with colonic adenoma (CAP), and 82 with colorectal adenocarcinoma (CRC, 17 cases of T1-2 and 65 cases of T3-4). The metabolic risk scores in CAP and T1-2 CRC were higher than those in the controls and T3-4 CRC cases. There were no statistically significant differences in leptin levels among CAPs, CRCs, and controls. Both leptin and adiponectin levels reflected differences in body mass index and metabolic risk scores. Cases in the CAP group and early T-stage CRC groups had lower adiponectin levels (14.03 and 13.01 mg/ml, respectively) than the no polyps group (19.5mg/ml, p = 0.03). The average serum adiponectin level in the invasive cancer group (18.5 ng/ml) was comparable with that of the control group. Conclusions: The level of serum adiponectin was positively correlated with the metabolic risk score. Decreased serum adiponectin was significantly associated with the development of colorectal adenoma and early stage colorectal carcinoma.

• 대한한의학회지
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• 제30권1호
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• pp.109-119
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• 2009

Objectives: This study was aimed to clarity the relationship between the pattern of dampness-phlegm and metabolic syndrome in acute stroke patients. Methods: Three hundred fifty-nine subjects were recruited from the patients admitted to the Internal Medical Department at Kyunghee University Oriental Medical Center, Donggnk University Ilsan Oriental Medical Center, Kyungwon University Songpa Oriental Medical Center and Kyungwon University Incheon Oriental Medical Center from April 2007 to March 2008. We diagnosed dampness-phlegm by Oriental medical diagnosis and analyzed their characteristics with type of stroke, blood test result, Sasang constitution, lifestyle and metabolic syndrome. Results: I. On the demographic variables of the patients, the weight and body mass index, the rate of hypertension, diabetes mellitus, hyperlipidemia, silent infarction were significantly higher in dampness-phlegm group than in the control. 2. There was no significant difference of stroke type between the dampness-phlegm group and the control. 3. According to the blood test, the dampness-phlegm group showed higher total cholesterol, triglyceride, fasting blood sugar and lower high density lipoprotein cholesterol than the control group with statistical significance. 4. According to the Sasang constitution distribution, the rate of Tae-Eum was significantly higher in dampness-phlegm group than in the control. 5. According to lifestyle, smoking and drinking were significantly lower in the dampness-phlegm group than in the control. Otherwise, exercise and dietary habits showed no significant difference between the two groups. 6. There were much more patients diagnosed with metabolic syndrome in the dampness-phlegm group than in the control. 7. Metabolic syndrome, silent infarction and obesity showed close relationship with dampness-phlegm pattern in multivariate analysis. Conclusions: According to the analysis, the relationship between the patterns of dampness-phlegm and metabolic syndrome in acute stroke patients were clarified. These results can be utilized in the future as a basis material.