• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.88-93
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• 2005

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.94-96
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• 2003

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.45-50
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• 2003

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.51-57
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• 2003

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.1-19
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• 2013

Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 600 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that requires immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for the confirmatory diagnosis of each disease, which is challenging to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

• The Journal of Korean Society for School & Community Health Education
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• v.23 no.1
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• pp.29-40
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• 2022

Objectives: The purpose of this study is to identify the relationship between metabolic syndrome factor diseases and falls in the elderly aged 65 years or older and use them as basic data to reduce the risk of falls. Methods: The method of this study was to compare the injury-related characteristics of the fall and non-fall groups with a factor disease of metabolic syndrome in Korea over 65 years of age. Data from the 14th National Hospital Discharge In-depth Injury Survey in 2018 were used to conduct the study. A total of 7,991 data were analyzed using SPSS 23.0. Results: Among the total injuries, the fall group with metabolic syndrome factor disease accounted for 69.0% and the non-fall group 31.0%. Falls occurred in 86.3% of households. In the fall group with metabolic syndrome factor disease, the number of females was 1.9~2.1 times higher than that of males. Compared to 65~69 years of age, the incidence of falls was 1.4~1.5 times higher in 70~79 years, 1.7~2.2 times higher in 80~89 years, and 2.5~3.6 times higher in 90-year-olds and older. In NISS, the incidence of falls was 1.7 times higher in moderate compared to mild. In principle diagnosis, the incidence of falls was 2.2 times higher in S40-S99 compared to S00-S19. Conclusion: The elderly with metabolic syndrome factor disease should continue to promote health through light exercise that can strengthen muscle strength to prevent falls.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.27-32
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• 2011

최근 유전공학의 발달로 리소좀 축적 질환에서 효소 치료제가 개발되어 실제 치료에 사용되고 있다. 현재 효소 보충 치료가 가능한 리소좀 축적 질환에는 고셔병(Gaucher disease), 파브리병(Fabry disease), 폼페병(Pompe disease), 뮤코다당체침착병(Mucopolysaccharidosis, MPS) 1형, 2형, 6형이 있으며 비교적 안전하면서 증상 완화에도 효과적으로 보인다. 그러나 이미 진행이 된 증상에 대해서는 비가역적이므로 조기에 진단을 하여 치료를 시작하는 것이 중요하다. 효소 보충 치료의 장기간에 걸친 치료 효과에 대해서 지속적인 평가가 필요하며 무엇보다 뼈와 중추신경계에 대한 효과는 제한적이므로 이에 대한 새로운 치료법의 개발이 필요하다.

• The Korean Journal of Physiology and Pharmacology
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• v.9 no.4
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• pp.187-193
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• 2005

Several signal transduction pathways have been implicated in ischemic preconditioning induced by the activation of ATP-sensitive $K^+$ $(K_{ATP})$ channels. We examined whether protein kinase C (PKC) modulated the activity of $K_{ATP}$ channels by recording $K_{ATP}$ channel currents in rabbit ventricular myocytes using patch-clamp technique and found that phorbol 12,13-didecanoate (PDD) enhanced pinacidil-induced $K_{ATP}$ channel activity in the cell-attached configuration; and this effect was prevented by bisindolylmaleimide (BIM). $K_{ATP}$ channel activity was not increased by $4{\alpha}-PDD$. In excised insideout patches, PKC stimulated $K_{ATP}$ channels in the presence of 1 mM ATP, and this effect was abolished in the presence of BIM. Heat-inactivated PKC had no effect on channel activity. PKC-induced activation of $K_{ATP}$ channels was reversed by PP2A, and this effect was not detected in the presence of okadaic acid. These results suggest that PKC activates $K_{ATP}$ channels in rabbit ventricular myocytes.

• Journal of Microbiology and Biotechnology
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• v.34 no.6
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• pp.1214-1221
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• 2024

The accumulating evidence substantiates the indispensable role of gut microbiota in modulating the pathogenesis of type 2 diabetes. Uncovering the intricacies of the mechanism is imperative in aiding disease control efforts. Revealing key bacterial species, their metabolites and/or metabolic pathways from the vast array of gut microorganisms can significantly contribute to precise treatment of the disease. With a high prevalence of type 2 diabetes in Inner Mongolia, China, we recruited volunteers from among the Mongolian population to investigate the relationship between gut microbiota and the disease. Fecal samples were collected from the Volunteers of Mongolia with Type 2 Diabetes group and a Control group, and detected by metagenomic analysis and untargeted metabolomics analysis. The findings suggest that Firmicutes and Bacteroidetes phyla are the predominant gut microorganisms that exert significant influence on the pathogenesis of type 2 diabetes in the Mongolian population. In the disease group, despite an increase in the quantity of most gut microbial metabolic enzymes, there was a concomitant weakening of gut metabolic function, suggesting that the gut microbiota may be in a compensatory state during the disease stage. β-Tocotrienol may serve as a pivotal gut metabolite produced by gut microorganisms and a potential biomarker for type 2 diabetes. The metabolic biosynthesis pathways of ubiquinone and other terpenoid quinones could be the crucial mechanism through which the gut microbiota regulates type 2 diabetes. Additionally, certain Clostridium gut species may play a pivotal role in the progression of the disease.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.10
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• pp.4999-5002
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• 2012

Introduction: There is epidemiological evidence indicating that the metabolic syndrome increases the risk of colorectal cancer. Since there is little information about this issue in Iran, the present study was conducted to evaluate prevalence of metabolic syndrome and its components in patients with colorectal cancer. Material and Methods: This cross-sectional survey involved 200 patients with a new diagnosis of colorectal cancer. Demographic information of patients was collected through the interview with them. Components of metabolic syndrome including fasting glucose serum, triglyceride, high density lipoprotein, blood pressure and waist circumference were measured for all of the patients. Results: A total of 72 colorectal cancer patients (36%) met metabolic syndrome criteria with rates of 76% for women and 24% for men. BMI in metabolic syndrome patients was higher than other colorectal cancer patients. Disease history including hypertension, diabetes and cardiovascular disease was most frequent in metabolic syndrome patients. Pathological characteristics of colorectal cancer were not significantly associated with the disease. Conclusion: The findings of present study indicated that the prevalence of metabolic syndrome in CRC patients is relatively high. Therefore, further analytical and multi centric studies are needed to better understand the role of metabolic syndrome in development of CRC in Iran. If this association is confirmed in future studies, metabolic syndrome patients should be considered in CRC screening programs.