• Journal of Genetic Medicine
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• v.4 no.1
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• pp.53-63
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• 2007

Purpose : Tandem mass spectrometry (MS/MS) is effective screening test for inherited metabolic diseases. In this study, we estimate potential costs and benefits of using tandem mass spectrometry (MS/MS) to screen new borns for inherited metabolic diseases (phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency) in Korea. Methods : From April 2001 to March 2004, 79,179 new borns were screened for amino acid disorders, organic acid disorders, and fatty acid oxidative disorders. Twenty-eight new borns were diagnosed with one of the metabolic disorder and the collective estimated prevalence amounted to 1 in 2,800 with a sensitivity of 97.67%, a specificity of 99.28%, a recall rate of 0.05%, and a positive preditive value of 6.38%. We calculated and compared the total costs in case when neonatal screening on pheny lketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, and when not. Results : If the neonatal screening on pheny lketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, total benefits far exceed costs at a ratio of 1.40:1. Conclusion : Although, this study only concerns the monetary aspects of the neonatal screening, tandem mass spcetrometry for neonatal screening is cost-effective compared with not screening. The study appears to support the introduction of tandem mass spectrometry into a Korea neonatal screening programme for inherited metabolic diseases.

• BMB Reports
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• v.42 no.9
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• pp.568-573
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• 2009

Fatty acid oxidation (FAO) defects cause abnormal lipid accumulation in various tissues, which provides an opportunity to uncover novel genes that are involved in lipid metabolism. During a gene expression study in the riboflavin deficient induced FAO disorder in the chicken, we discovered the dramatic increase in mRNA levels of an uncharacterized gene, ANKRD9. No functions have been ascribed to ANKRD9 and its orthologs, although their sequences are well conserved among vertebrates. To provide insight into the function of ANKRD9, the expression of ANKRD9 mRNA in lipidperturbed paradigms was examined. The hepatic mRNA level of ANKRD9 was repressed by thyroid hormone ($T_3$) and fasting, elevated by re-feeding upon fasting. However, ANKRD9 mRNA level is reduced in response to apoptosis. Transient transfection assay with green fluorescent protein tagged- ANKRD9 showed that this protein is localized within the cytoplasm. These findings point to the possibility that ANKRD9 is involved in intracellular lipid accumulation.

• Korean Journal of Biological Psychiatry
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• v.19 no.4
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• pp.211-218
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• 2012

Objectives Body image distortion is found in eating disorder and obesity and there are some evidence that schizophrenia is associated with body image distortion. This study sought to find whether schizophrenic patients report more body image distortion than healthy individuals and whether it is related with symptomatology. Methods A total of 88 inpatients with schizophrenia and 88 healthy controls were recruited. Weight, height, and body image accuracy were assessed in all participants, and assessment of mood, psychotic symptom severity and self-esteem, and personal and social performance scale were conducted. Results The patients with schizophrenia had higher Body Mass Index (p < 0. 001) and underestimated their body size more than controls (26.14% vs. 5.13%, p < 0.001). Multiple regression analysis showed that lower depressive symptoms and higher scores of general psychopathology predicted underestimation of body size. Conclusion Weight gain and metabolic syndrome are common adverse events of pharmacological treatment of schizophrenia. Thus, underestimation of body size among patients with schizophrenia may interfere with effort to lose weight or seek weight reduction programs. Clinicians need to consider possible unterestimation of underestimation of body size in patients whose general symptomatology is severe.

• Fisheries and Aquatic Sciences
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• v.18 no.3
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• pp.333-339
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• 2015

Red lip mullet Chelon haematocheilus (body weight = $468{\pm}91g$) which became sick during an outbreak of disease at mariculture facilities at Cheonsu Bay, Korea, during July-August 2013, were examined to identify the cause of the disease. Diseased mullets displayed green liver syndrome, and Lactococcus garvieae were isolated from their internal organs. Argulus sp., Trichodina sp., and/or Vibrio spp. were also discovered in some infected fish. Histopathological examination revealed that fatty liver syndrome with hepatocyte degeneration, reflected in heterokaryons, inflammatory lesions, and melanomacrophage centers ($MMC_S$), had caused fibrosis around the kidney, spleen, and blood vessels. After the outbreak, visceral fat and green liver syndrome in the mullets were consistently observed throughout the year in the same mariculture facilities, indicating that the cultured mullets suffered a chronic metabolic disorder. Although Vibrio spp. were also isolated from some individuals, L. garvieae, which is known to be a causative agent of red lip mullet mortality, was isolated from all diseased individuals. This is the first report of L. garvieae infection in cultured red lip mullet.

• Biomedical Science Letters
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• v.14 no.4
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• pp.233-238
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• 2008

Gestational diabetes mellitus (GDM) is a common complication during pregnancy and one of the main causes of adverse fetal-maternal outcomes. However, the pathogenesis of GDM has not been clearly stated. Adiponectin, an adipose tissue-derived plasma protein, is involved in regulation of insulin resistance and glucose hemostasis, and thus is a key modulator of insulin action and glucose metabolism. In this study, we investigated to compare serum adiponectin levels in pregnant women with diabetes, pregnant women who are without diabetes, and non-pregnant women, and to evaluate relationship between serum adiponectin. levels and metabolic parameters. Forty-one pregnant women with diabetes, fifty-nine pregnant women without diabetes and forty non-pregnancy women were recruited. Adiponectin levels were significantly lower in pregnant women with diabetes when compared to non-pregnant women and pregnant women without diabetes. Pregnant women without diabetes at second trimester had lower adiponectin levels compared to non-pregnant women. Adiponectin was negatively correlated with BMI, fasting insulin, HOMA-IR, total cholesterol, and triglyceride. In conclusion, this study confirmed that the decreased level of adiponectin precedes the onset of abnormal glucose level during pregnancy and also normal pregnant women had lower adiponectin levels compared to non-pregnant women. This knowledge may help to identify strategies for lowering the occurrence of GDM in women who are at high risk of developing the disorder.

• Korean Journal of Artificial Intelligence
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• v.4 no.1
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• pp.4-7
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• 2016

These days, citizens have made change of food life to take Western style food and to suffer from diabetes because of excessive nutrition taking, less exercise, stress and other environmental factors. They may suffer from diabetes because of genetic defect, surgery of pancreas, disinfection and medicine and others. One of ten Koreans may have symptom of diabetes to be popular. The diabetes that is a kind of metabolic disease has high blood sugar at disorder of hyper insulinism and/or defect of insulin action. Long time high blood sugar may produce chronic disease of kidney, eyes, nerve, heart and blood vessel and others. The purpose of health care of diabetes patient was to reach target blood sugar by diet, physical exercise and medicine and to prevent and delay complication. Diabetes patient shall control blood sugar to keep healthy. The blood sugar control requires time and effort, and all of the patients are difficult to make effort and to spend time. You can control blood sugar by the application. The application allows patients to control blood sugar and to save time and efforts and to make small sized input and automation of remaining area. The service was limited to blood sugar graph, and user carries smart phone to conduct test and to have difficulty. Further study needs to solve the problems and to investigate blood sugar testing not carrying smart phone and to make application of easy control of blood sugar.

• Physical Therapy Korea
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• v.22 no.3
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• pp.98-105
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• 2015

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like $T_2$-weighted imaging, assess muscle damage, including inflammation, by detecting changes in $T_2$ relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

• Genomics & Informatics
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• v.10 no.4
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• pp.239-243
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• 2012

Gestational diabetes mellitus (GDM) is a complex metabolic disorder of pregnancy that is suspected to have a strong genetic predisposition. It is associated with poor perinatal outcome, and both GDM women and their offspring are at increased risk of future development of type 2 diabetes mellitus (T2DM). During the past several years, there has been progress in finding the genetic risk factors of GDM in relation to T2DM. Some of the genetic variants that were proven to be significantly associated with T2DM are also genetic risk factors of GDM. Recently, a genome-wide association study of GDM was performed and reported that genetic variants in CDKAL1 and MTNR1B were associated with GDM at a genome-wide significance level. Current investigations using next-generation sequencing will improve our insight into the pathophysiology of GDM. It would be important to know whether genetic information revealed from these studies could improve our prediction of GDM and the future development of T2DM. We hope further research on the genetics of GDM would ultimately lead us to personalized genomic medicine and improved patient care.

• Molecules and Cells
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• v.41 no.1
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• pp.55-64
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• 2018

Autophagy is an intracellular degradation pathway for large protein aggregates and damaged organelles. Recent studies have indicated that autophagy targets cargoes through a selective degradation pathway called selective autophagy. Peroxisomes are dynamic organelles that are crucial for health and development. Pexophagy is selective autophagy that targets peroxisomes and is essential for the maintenance of homeostasis of peroxisomes, which is necessary in the prevention of various peroxisome-related disorders. However, the mechanisms by which pexophagy is regulated and the key players that induce and modulate pexophagy are largely unknown. In this review, we focus on our current understanding of how pexophagy is induced and regulated, and the selective adaptors involved in mediating pexophagy. Furthermore, we discuss current findings on the roles of pexophagy in physiological and pathological responses, which provide insight into the clinical relevance of pexophagy regulation. Understanding how pexophagy interacts with various biological functions will provide fundamental insights into the function of pexophagy and facilitate the development of novel therapeutics against peroxisomal dysfunction-related diseases.

• The Journal of Internal Korean Medicine
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• v.25 no.3
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• pp.602-608
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• 2004

Diabetes mellitus is a metabolic disorder characterized by hyperglycemia which results from one or both of decreased insulin secretion and increased insulin resistance. Chronic hyperglycemia causes damage to the eyes, kidneys, nerves, heart and blood vessels. The major goal in treating diabetes mellitus is controlling elevated blood sugars without causing abnormally low levels of blood sugar. A 67-year-old woman was admitted with hyperglycemia, thirst, Lt. leg numbness and both leg weakness. The patient was diagnosed as So-gal(消渴) due to dry ness-heat based on yin-deficiency(陰虛燥熱) through oriental medicine and NIDDM through western medicine. The patient was treated with oriental and western medicines. Specifically herbal medicine(Gamijihwangtang), acupuncture, moxa theraphy were used as well as oral medications. Clinical symptoms improved and hyperglycemia dramatically stablized.