• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.19 no.1
• /
• pp.20-25
• /
• 2019

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

• Journal of the Korean Society of Food Science and Nutrition
• /
• v.33 no.10
• /
• pp.1748-1752
• /
• 2004

This study was performed to obtain the good processing in the Relunanniae Radix Preparata. The contents of the Relunanniae Radix and the Relunanniae Radix Preparata produced through different processes were analyzed in the 5-hydroxymethyl-2-furaldehyde (5-HMF), sugar, total nitrogen, crude lipid and ash. 5-HMF was not detected in the Relunanniae Radix, but detected in the Relunanniae Radix Preparata. 5-HMF content was increased gradually with processing times (1∼9 times) and increased expressly in the Relunanniae Radix Preparata steamed for 7 times. Sucrose, fructose and glucose were contained in the Relunanniae Radix, but sucrose was not detected and fructose and glucose were increased largely in the Relunanniae Radix Preparata steamed for 1 time. Fructose and glucose were decreased gradually with processing times (2∼9 times), but the gap of decrease was insignificant. Total nitrogen was changed slightly and crude lipid was decreased slowly with processing times. The ash was suitable to KPⅧ rules (less than 6.0%). From this analysis we found out the content of 5-HMF from Relunanniae Radix Preparata steamed more than 7 times was suitable to KPⅧ rules (more than 0.1%).

• Proceedings of the Korea Information Processing Society Conference
• /
• 2019.05a
• /
• pp.291-292
• /
• 2019

본 논문은 의료영상을 기반으로 근감소증의 정량적 평가를 위한 특화된 분석 소프트웨어에 대하여 기술한다. 특히, 제안한 분석 소프트웨어는 복부 CT영상에서 근감소증 영상분석에 중요한 인자인 근육, 피하지방 그리고 내장지방의 영역을 반자동 방식으로 세그멘테이션하여 정량화 할 수 있다. 또한 각각의 영역별 레이블링 영상을 다양한 포맷으로 생성할 수 있다. 분석 소프트웨어는 근감소증의 진단 및 정량적 평가를 정의하는 출발점이 될 것으로 기대하고 있으며, 다양한 질환에 대해 분석에 적용이 가능하다.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.27 no.1
• /
• pp.70-76
• /
• 2000

Congenital biliary atresia with progressive sclerosis of the intra- and extra-hepatic duct system occurs in 1 : 10,000 live births, and has a poor prognosis with an expected survival of less than 5 years. Etiology of biliary atresia is unclear, however, it is believed a genetic or developmental cause. The clinical characteristics include pronounced jaundice, hepatosplenomegaly, pruritus, steatorrhea, xanthomas, growth retardation, portal hypertension, bleedings, ascites and respiratory infections. Oral manifestations have seldom been reported in patients with biliary atresia, but there may be enamel hypoplasia, delayed tooth eruption, and green teeth. Early diagnosis and surgical intervention have decreased morbidity. returned growth and development to normal and improved the prognosis for survival. Authors report the clinical and radiologic characteristics, proper managements about two cases with biliary atresia.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.31 no.3
• /
• pp.400-405
• /
• 2004

Biliary atresia is defined as a complete obstruction of bile flow owing to destruction or absence of all or part of the extrahepatic bile ducts. This disease is occurring in approximately 1:10,000 live births and moderate predominance of female is noted. The etiology of biliary atresia remained unsolved. The signs and symptoms are hyperbilirubinemla, jaundice, clay-colored stools, steatorrhea, dark yellow urine and hepatomegaly. Currently biliary atresia is best managed by hepatic portoenterostomy with or without liver transplantation. Biliary atresia patients with these cases showed staining of the teeth. The stains ranged in color from yellowish-brown to deep green. Enamel hypoplasia was all erupted teeth present. Patients had poor oral hygiene and rampant caries.

• Clinical and Experimental Pediatrics
• /
• v.50 no.8
• /
• pp.794-798
• /
• 2007

Hepatopulmonary syndrome is a triad that includes: hepatic dysfunction, intrapulmonary vascular dilatation and abnormal arterial oxygenation. The incidence of intrapulmonary vascular dilatations, in adults with end-stage liver disease, has been reported to be 13% to 47%, however the incidence in children is unclear and the cases in Korean children have never been reported. The hepatopulmonary syndrome may occur as a result of chronic liver disease following nonalcoholic steatohepatitis in children with hypothalamic or pituitary dysfunction. We report a case of hepatopulmonary syndrome in a 13-year-old child who had rapidly progressive liver dysfunction secondary to panhypopituitarism after craniopharyngioma resection. Careful monitoring and treatment of endocrine abnormalities and metabolic status, as well as liver function, are required in all children undergoing pituitary tumor resection.

• Journal of the Korea Academia-Industrial cooperation Society
• /
• v.13 no.5
• /
• pp.2156-2169
• /
• 2012

This study was performed to find out the relationship between farmer's syndrome and self-conscious fatigue symptoms in farmers of suburban area. The questionnaire was prepared to survey the socio-demographic characteristics, health-related behaviors, farming activities, farmer's syndrome, and self-conscious fatigue symptoms of the farmers, and the survey was carried out from April 1 to June 30, 2011 by interviewing 296 farmers residing suburban area of Daejeon city. As a results, the ratio of farmers who had positive farmer's syndrome, doubtful syndrome, and no syndrome were 34.1%, 47.6%, and 18.2%, respectively. The farmer's syndrome was positively correlated with the self-conscious fatigue symptoms, and farmers with self-conscious fatigue symptoms in high risk group were at higher risk of having farmer's syndrome. The results of hierarchic multiple regression analysis indicated that sex, education, health, and self-conscious fatigue symptom were correlated with the farmer's syndrome. Among the affective factors variables, independently self-conscious fatigue symptom was the most influential. As a conclusion, the occurrence of farmer's syndrome was influenced by the socio-demographic characteristics, health-related behaviors, and self-conscious fatigue symptoms of the farmers. Especially, self-conscious fatigue symptom was independently influenced the occurrence of farmer's syndrome.

• Clinical and Experimental Pediatrics
• /
• v.45 no.9
• /
• pp.1083-1089
• /
• 2002

Purpose : The prevalence of obese children has recently increased. Obesity is known to be associated with complications such as hypertension, fatty liver, hyperlipidemia, and insulin resistance. L-carnitine is an essential cofactor for the transport of long chain fatty acids into mitochondria for ${\beta}$-oxidation. The purpose of this study is to measure serum free fatty acid and carnitine levels, and evaluate the role of L-carnitine as a therapeutic drug in obese children with fatty liver. Methods : Nine obese children, ranging from seven to 18 years of age, and 10 normal children were examined. Serum lipid(total cholesterol, triglyceride, HDL-cholesterol, and LDL-cholesterol) and fatty acid levels were analyzed. Serum total, free, and acyl carnitine levels were performed also by a new enzymatic cycling technique. Results : Long chain fatty acids(myristic acid, palmitoleic acid, palmitic acid, linoleic acid, oleic acid, and stearic acid)were significantly increased in obese children compared to the control group. Total, and acyl carnitine levels were significantly increased in obese children compared to the control group. Conclusion : Serum free fatty acid and carnitine levels were significantly increased in obese children with fatty liver compared to the normal control. This may suggest that L-carnitine can be used as antilipidemic agent to decrease fatty acid and lipid levels for obese children. Prospective studies will investigate serum fatty acid and carnitine levels after treatment of L-carnitine in obese children in the future.

• Journal of Animal Science and Technology
• /
• v.50 no.3
• /
• pp.293-300
• /
• 2008

Muscle fat content including intramuscular fat content(IMF) is the most important parameter in meat quality of cattle. Triacylglycerol is the major component of fat and is found in adipocyte and skeletal muscle. In present study, we carried out the determined of triacylglycerol contents and mRNA expression patterns of genes related with triacylglycerol biosynthesis such as ACSS2, GPAT, MGAT and DGAT in Hanwoo longissimus muscle using the real-time PCR. The triacylglycerol contents were continuously increased during the fattening stages. Interestingly, the contents of triacylglycerol were 7.4 fold higher(0.34 vs. 2.51, P<0.01) in 27 months old group than 12 months old group. The mRNA levels of ACSS2, GPAT and DGAT genes were also increased during fattening stages, whereas that of MGAT gene did not show difference among the stages. Thus, these results suggested that increasing of the triacylglycerol contents in longissimus muscle during fattening stages may be related with increased expressions of triacylglycerol biosynthesis genes(ACSS2, GPAT and DGAT). These results will be helpful to understand the mechanism of muscle fat deposition in skeletal muscle.

• Journal of Life Science
• /
• v.25 no.3
• /
• pp.299-306
• /
• 2015

Chrysanthemum zawadskii, a herbaceous perennial plant belonging to the Compositae, grows wild in Asian countries, including Japan, China, and Korea. The biological, antioxidative, anti-inflammatory, and antibacterial activities of C. zawadskii have been reported, its antiobesity activity has not been elucidated. In the present study, the effect of C. zawadskii methanol extract (CZME) on pancreatic lipase enzyme activity, adipocyte differentiation, and adipogenesis was investigated using an in vitro assay and a cell model system. CZME effectively suppressed lipase enzyme activity in a dose-dependent manner. CZME also inhibited insulin, dexamethasone, 3-isobutyl-1-methylxanthine (MDI)-induced adipocyte differentiation, lipid accumulation, and the level of triglyceride in 3T3-L1 preadipocytes in a dose-dependent manner, without cytotoxicity. The antiobesity effect of CZME might be modulated by gene and protein expression of cytidine-cytidine-adenosine-adenosine-thymidine (CCAAT)/enhancer binding proteins (C/EBP) α, C/EBPβ, and the peroxisome proliferator-activated receptor γ (PPAR γ). CZME also triggered lipolysis in a dose-dependent manner in MDI-induced 3T3-L1 preadipocytes. Taken together, these results provide important new insights into the antiobesity activities of C. zawadskii, showing that they involve pancreatic lipase inhibition, as well as antiadipogenic and lipolysis effects. CZME might be a promising source in the field of nutraceuticals. However, the active compounds that confer the antiobesity activities of CZME need to be identified.