• Journal of Veterinary Clinics
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• v.32 no.1
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• pp.1-4
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• 2015

This study was performed to survey prevalence of Copper metabolism domain containing 1 (COMMD1) mutation using molecular diagnostic method in a population of Bedlington terriers in Korea. COMMD1 gene (formerly MURR1) functions as a regulator of sodium transport and copper metabolism. The deletion of exon 2 of the COMMD1 gene causes copper toxicosis in Bedlington terriers. Bedlington terriers with this autosomal recessive disorder were shown to have the elevated liver copper levels due to genetic derangement in the biliary copper excretion pathway. DNA samples were extracted from whole blood collected from 257 Bedlington terriers (109 males, 148 females) of pet dog clubs in Korea. A multiplex PCR was carried out to detect of exon 2 deletion of COMMD1 gene. In this study, it was possible to know the existence and prevalence of exon 2 deletion of COMMD1 in Bedlington terriers in Korea. Of the 257 samples, 131 (51%) were wild type homozygous for the normal COMMD1 gene, 108 (42%) were heterozygous, having both normal and mutated copy of the COMMD1 gene. The eighteen (7%) were mutant type homozygous. The results of genetic analysis could help establish proper management strategy and selective breeding program to prevent COMMD1 mutation in Bedlington terriers in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.15-23
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• 2006

Purpose: Glycogen storage disease type III (GSD-III), is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), which is responsible for the debranching of the glycogen molecule during catabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different patients. In this study, we analyzed mutations of the AGL gene in three unrelated Korean GSD-III patients and discussed their clinical and laboratory implications. Methods: We studied three GSD-III patients and the clinical features were characterized. Sequence analysis of 35exons and part exon-intron boundaries of the AGLgene in patients were carried out by direct DNA sequencing method using genomic DNA isolated from patients' peripheral leukocytes. Results: The clinical features included hepatomegaly (in all patients), seizures (in patient 2), growth failure (in patients 1), hyperlipidemia (in patients 1 and 3), raised transaminases and creatinine kinase concentrations (in all patients) and mild EKG abnormalities (in patients 2). Liver transplantation was performed in patient 2due to progressive hepatic fibrosis. Administration of raw-corn-starch could maintain normoglycemia and improve the condition. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 with c.1510_1511insT (p.Y504LfsX10), and patient 3 with c.3416 T>C (p.L1139P) and c.l735+1 G>T (Y538_R578delfsX4) mutations. Except R428K mutation, 4 other mutations identified in3 patients were novel. Conclusion: GSD-III patients have variable phenotypic characteristics resembling GSD-Ia. The molecular defects in the AGL gene of Korean GSD-III patients were genetically heterogeneous.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.101-109
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• 2015

Classic galactosemia (OMIM #230400) is an autosomal recessive inherited metaboic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) due to mutations in the GALT gene. If untreated, classic galactosemia is a potentially lethal disease presenting with poor feeding, vomiting, jaundice, liver failure, increased bleeding tendency, and septicemia leading to death within a few days after birth. Since 2006, expansion of newborn screening has been enabled the early diagnosis and early intervention of classic galactosemia in Korea. However, newborn screening, followup testing for confirmatory diagnosis and intervention for galactosemia continue to present challenges. In Korea, the prevalence of the classic galactosemia is considered relatively low compared to that of western countries. And the genotype is also clearly different from those of other population. Therefore, our own guideline for confirmatory diagnosis and intervention is needed. Here, the diagnostic algorithm for galactosemia after positive newborn screening result in Korea has been proposed. Considering the low prevalence and different mutation spectrum in Koreans, the early mutation analysis of GALT gene could be a useful tool for the accurate diagnosis and making any treatment decision.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.30-34
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• 2018

Niemann Pick type C disease (NPC) is an inherited progressive neurodegenerative disorder, due to defects of intracellular lipid trafficking and storage. Hepatosplenomegaly may prevail, while progressive neurodegenerative symptoms such as cerebellar involvement, dystonia, vertical supranuclear ophthalmoplegia, cataplexy, and eventually seizures starting at juvenile or late infantile period may accompany after normal early development. Here we describe a 3-year-old Korean boy with NPC who presented with splenomegaly at age 3. Liver biopsy showed characteristic foamy cell stained by periodic acid-schiff, and molecular analysis for NPC1 identified the compound heterozygous mutations, novel mutation of c.1631G>A (p.Trp544Ter) and c.2662C>T (p. Pro888Ser) as a known mutation. Filipin was strongly stained with unesterified cellular cholesterol in the patient's skin fibroblasts. The patient has received migulstat since age 3 years and his long-term outcome is needed to be observed.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.9-17
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• 2015

Glycogen storage disease (GSD) type Ia is rare inborn metabolic disorder, caused by glucose-6-phosphatase deficiency. It characterized by hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia and it is usually manifested in the infantile period. In addition, it is also associated with growth failure, pubertal delay, anemia, platelet dysfunction, osteopenia, and pulmonary hypertension. Hepatocellular adenoma and renal dysfunction are frequent late complications. Delayed diagnosis and inappropriate therapy lead to many complications such as growth failure, osteoporosis, refractory gout, renal failure, hepatocellular carcinoma (HCC), and pulmonary hypertension. Here, two Korean sisters diagnosed with GSD Ia, aged 33 and 36 respectively, were described and compared to recent articles about four adults with late diagnosis of GSD Ia. One sister had typical manifestations of GSD Ia including short stature (height, 145 cm), multiple hepatic adenoma, chronic kidney disease stage IV, and severe osteoporosis, whereas the older sister had normal stature (162 cm), one tiny hepatic nodule, and normal renal function. Direct sequencing of G6PC in two sisters identified a homozygous splicing mutation, c.645G>T, which is a prevalent mutation in Korea. Interestingly, our cases and four adults from recent reports had asymptomatic mild hypoglycemia and various manifestations including renal failure, HCC, fatty liver, or uncontrolled hyperlipidemia. These adult cases represent not only heterogenous phenotype to genotype within family members with GSD Ia but also long-term complications such as gouty arthritis, renal failure, and osteoporosis in untreated adult GSD Ia patients. In addition, lactic academia and hypertriglyceridemia are good markers of GSD Ia to distinguish from metabolic disease.

• Journal of the Korean Society of Food Science and Nutrition
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• v.32 no.8
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• pp.1337-1343
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• 2003

Diabetes mellitus has been known to be a state of increased oxidative stress. Free radical formation and lipid peroxidation are accelerated in this metabolic disorder. Buchu (Allium tuberosum Rottler) contains lots of antioxidative nutrients such as chlorophyll, vitamin C, $\beta$-carotene, phenolic compounds and sulfur compounds. To investigate the protective effects of buchu, 10% lyophilized buchu diet was fed to streptozotocin (STZ)-induced diabetic rats for 14 weeks and lipid peroxidation, protein oxidation, contents of reactive oxygen species, activities of antioxidative enzymes and contents of accumulated lipofuscin were measured as indicators of oxidative stress. Hepatic MDA and carbonyl contents tended to decrease in 10% buchu diet group compared with control group. Dietary buchu significantly suppressed lipid and protein oxidation in the skin of rats (p<0.05). Contents of hepatic hydroxyl radicals, which exert the highest toxicity among the reactive oxygen species, were significantly decreased in rats fed 10% buchu diet (P<0.05). Activities of antioxidative enzyme, such as superoxide dismutase, catalase, and glutathione peroxidase, tended to increase in liver and skin of rats fed 10% buchu diet, while hepatic catalase activity was significantly increased in buchu group compared with control group. Buchu supplementation significantly inhibited the accumulation of lipofuscin, an end-product of lipid peroxidation reactions induced by reactive oxygen radicals, in eye tissues compared with control diet (p<0.001). In conclusion, buchu supplementation diminished the oxidative stress, so dietary buchu could help to attenuate diabetes complications.

• Journal of Korean Public Health Nursing
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• v.14 no.2
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• pp.431-445
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• 2000

In general the prevalence of old people is high and frequently have multiple diseases and symtoms requiring treatment. The nature of illness in the elderly has to be faced, and drugs do have an important part in the treatment of that illness. The purpose of this study were to describe health status and medication, and to provide some basic data for elderly's health education, especially for the right medication. Body mass index, self perceived health status, activities of daily living, disease and experience of past operation were surveyed to recognize the 249 elderly's actual health status. The degree of the elderly's understanding the way of medication, experience of side effects, experience of drug combination and incidence of drug adverse reaction along with drug combination were examined for medication. The aged $women(BMI; 10.7\pm13.3\%)$ overweighed the aged $men(BMI; 4.0\pm10.4\%)$. $69.0\%$ of them recognized their health good. Their activities of daily living were diminished following by the age group(p=0.0068) and relationship with self perceived health status were very significant(p=0.0005). They(192 elderly) suffered from multiple disease such as $osteoarthritis(49.5\%)$, $hypertension(32.0\%)$, gastric $disorder(16.1%)$, $diabetes(14.6\%)$, $osteomalacia(10.9\%)$, cardiovascular $disease(9.9\%)$, senile $cataract(5.7\%)$, skin $rash(5.2\%)$, liver $disease(4.2\%)$, kidney $disease(3.6\%)$, spinal cord $problem(3.6\%)$, respiratory $disease(2.1\%)$ $tuberculosis(1.0\%)\;etc(1.0\%).$ $28.3\%$ of them replied that they had an operation for appendictis senile cataract, peptic ulcer, spinal cord problem, pleurisy, hemorrhoid and the rest. Most of $them(87.4\%)$ knew the way very well how to use drugs, and $21.6\%$ of the replied 171 elderly experienced adverse drug reaction. Drug compliance rate were $high(83.6\%)$. In our study 56.9% of the 167 elderly took several medicine together. And $18.9\%$ of the 95 elderly who did drug combination had an experience of drug interaction. One person kept average 5.5 kinds of drugs at home among 243 elderly. They kept $digestives(79.4\%)$, $ointments(68.7\%)$, $vitamins(59.7\%)$, $analgesics(59.7\%)$, cold $medicines(45.3\%)$ antiarthritic $drugs(33.3\%)$, health $foods(27.7\%)$, antihypertensive $drugs(25.1\%)$, anti peptic ulcer $drugs(24.7\%)$, $laxatives(19.8\%)$, $antacids(16.5\%),\;antibiotics(l6.5\%)$, hypoglycemic $agents(10.3\%)$, cardiac $stimulants(7.0\%)$, $diuretics(4.5\%)$, antiarrhythmic $drugs(4.9\%)$, anti anginal $drugs(4.1\%)$, $hypnotics(3.3\%)$, $etc(38.3\%)$. With this result, we ascertain that polypharmacy in the elderly caused by multiple disease is common, which lead to drug interaction. So our task is to educate elderly how to use drugs in order to maximize their efficiency and to minimize their adverse effects.

• The Korean Journal of Physiology and Pharmacology
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• v.19 no.4
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• pp.365-372
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• 2015

Aripiprazole (ARI) is a commonly prescribed medication used to treat schizophrenia and bipolar disorder. To date, there have been no studies regarding the molecular pathological and immunotoxicological profiling of aripiprazole. Thus, in the present study, we prepared two different formulas of aripiprazole [Free base crystal of aripiprazole (ARPGCB) and cocrystal of aripiprazole (GCB3004)], and explored their effects on the patterns of survival and apoptosis-regulatory proteins under acute toxicity and cytotoxicity test conditions. Furthermore, we also evaluated the modulatory activity of the different formulations on the immunological responses in macrophages primed by various stimulators such as lipopolysaccharide (LPS), pam3CSK, and poly(I:C) via toll-like receptor 4 (TLR4), TLR2, and TLR3 pathways, respectively. In liver, both ARPGCB and GCB3004 produced similar toxicity profiles. In particular, these two formulas exhibited similar phospho-protein profiling of p65/nuclear factor $(NF)-{\kappa}B$, c-Jun/activator protein (AP)-1, ERK, JNK, p38, caspase 3, and bcl-2 in brain. In contrast, the patterns of these phospho-proteins were variable in other tissues. Moreover, these two formulas did not exhibit any cytotoxicity in C6 glioma cells. Finally, the two formulations at available in vivo concentrations did not block nitric oxide (NO) production from activated macrophage-like RAW264.7 cells stimulated with LPS, pam3CSK, or poly(I:C), nor did they alter the morphological changes of the activated macrophages. Taken together, our present work, as a comparative study of two different formulas of aripiprazole, suggests that these two formulas can be used to achieve similar functional activation of brain proteins related to cell survival and apoptosis and immunotoxicological activities of macrophages.

• The Journal of Korean Medical History
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• v.25 no.2
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• pp.63-96
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• 2012

The PingMaiFa chapter, which is the second chapter of SongBon ShangHanLun, is the scholarly description(專論) of the pulse and pathological mechanism but has not been studied and published yet. This study is about article 1-13 which is the first part of The PingMaiFa chapter. We compared the original texts within the editions, comparing and analyzing the annotations of successive dynastic medical group. The articles of The SongBon ShangHanLun PingMaiFa chapter 1-13 is consisted as is shown: article 1 states about the general features of normal pulse (平脈) and its physiological mechanism and the morbid pulses (病脈) caused by wind, cold, retained fluid, pain and heat vexation, article 1,10 state about the normal pulses of Five viscera (lung, heart, spleen, liver and kidney) and their manipulations in pulse taking, article 2 states about the differentiations of deficiency and excess syndrome according to pulse conditions, article 3, 4 state about the estimation of good prognoses and a factitious disorder by the combination of pulses and symptoms, article 6 states about Latent qi (伏氣) and its diagnostic features, article 5 states about inspection and listening examination as co-diagnostic methods of the pulse diagnosis, article 7, 8, 9 state that the emotions, such as fear and shame, and the dietary are important factors to consider for making diagnosis, article 11 states about the overwhelming pulse (相乘脈) which indicates the abnormal correlations between five phases and appears in four patterns as the dissolute(縱), the unrighteous(橫), the unfavorable(逆) and the favorable(順), article 12 states about 6 harmful pulses(殘賊脈), which are string-like pulse(弦脈), tight pulse(緊脈), floating pulse(浮脈), slippery pulse(滑脈), sunken pulse(沈脈), rough pulse(澁脈), article 13 states about "JaeGoe"(災怪) which is an unexpected response after treatment and it comes because of the formulas that had before. Throughout all these articles, The PingMaiFa chapter not only offers great value for Pulse-taking diagnosis, but also leads to a better understanding of clinical applications.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.23 no.1
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• pp.224-252
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• 2010

Objective : The purpose of this study is to investigate tinnitus of Plain Questions $\ll$素問$\gg$ and Miraculous Pivot $\ll$靈樞$\gg$. Methods : We conducted a study on the original text paragraphs of Internal Classic $\ll$內經$\gg$ containing the tinnitus and analysis of Yang, Ma, Zhang, Wang etc. We drew a parallel between tinnitus from Internal Classic $\ll$內經$\gg$ and matching diagnoses from western medicine. Results : The results were as follows. 1. Tinnitus in Plain Questions $\ll$素問$\gg$Tong Pyeong Heo Sil Ron <通評虛實論> was similar to the symptoms of diabetes mellitus complication and schizophreniform disorder in western medicine. 2. Liver fire tinnitus in Plain Questions $\ll$素問$\gg$ Yuk Won Jeong Gi Dae Ron <六元正紀大論> was similar to the symptoms of psychological distress in western medicine. 3. Phlegm fire tinnitus in Plain Questions $\ll$素問$\gg$ Ji Jin Yo Dae Ron <至眞要大論> was similar to the symptoms of meniere's disease and malfunction of autonomic nervous system in western medicine. 4. Blood deficiency tinnitus in Miraculous Pivot $\ll$靈樞$\gg$ Sa Gi Jang Bu Byeong Hyeong <邪氣藏府病形> was similar to the symptoms of anemia in western medicine. 5. Tinnitus in Miraculous Pivot $\ll$靈樞$\gg$ Gyeong Geun <經筋> was similar to the myofacial pain syndrome of the sternocleidomastoid muscle and the masseter muscle in western medicine. 6. Gallbladder deficiency tinnitus in Miraculous Pivot $\ll$靈樞$\gg$ Gwol Hyeong <厥病> was similar to the symptoms of otitis media and labyrinthitis in western medicine. 7. Kidney deficiency tinnitus in Miraculous Pivot $\ll$靈樞$\gg$ Gyeol Gi <決氣> and Hai Ron <海論> was similar to the symptoms of degenerative auditory organ in western medicine. 8. Tinnitus in Internal Classic $\ll$內經$\gg$ showed close relations with the symptoms of the wind character. Conclusion : We analyzed the original text paragraphs of Internal Classic $\ll$內經$\gg$ and explanations about tinnitus. Further studies are needed to compare oriental medicine and western medicine diagnoses to develop better treatments for tinnitus.