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

• Korean Journal of Veterinary Research
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• v.38 no.2
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• pp.345-352
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• 1998

The diagnosis of brucellosis is currently based on serological and microbiological tests. However, the microbiological isolation and identification have several disadvantages such as time-consuming and laborious, and the serological methods have been reported to cross-react with antigens other than those from Brucella spp. To develop a sensitive and rapid diagnostic method for detection of Brucella species, the genus-specific primers were designed and synthesized from the sequence of gene encoding a 31kDa cell surface protein(BCSP) and a 36kDa outer membrane protein(OMPB) of B abortus. The amplified 711bp and 982bp DNA fragments were only visible in each species of Brucella by PCR method using the BCSP and OMPB primers, respectively. However, PCR product was not obtained with DNA from other Gram-negative bacteria. As little as 1pg of the B abortus genomic DNA could be detected by this PCR method. Using the PCR technique, semen samples from 185 bulls of Brucella-seronegative herds in Cheju island were examined for comparison of this PCR method with conventional methods in 1995. The semen samples from 5 bulls were positive by culture method and PCR, and one was positive and 5 were suspect by semen plasma agglutination test. However, the semen samples obtained from 177 bulls were negative by semen plasma agglutination, culture and PCR methods in 1996. The results of comparison tests suggested that PCR was a better test than agglutination test against semen of bulls. This study indicated that the PCR technique was a valuable for the diagnosis of bovine brucellosis, particulary in bull semens.

• Journal of Society of Preventive Korean Medicine
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• v.21 no.2
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• pp.1-13
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• 2017

Objectives : This paper serves to explore current trends of systems biology in Traditional Chinese Medicine (TCM) and examine how it may influence the Traditional Korean medicine. Methods : Literature review method was collectively used to classify Introduction to systems biology, diagnosis and syndrome classification of systems biology in TCM perspective, physiotherapy including acupuncture, herbs and formula functions, TCM systems biology, and directions of academic development. Results : The term 'Systems biology' is coined as a combination of systems science and biology. It is a field of study that tries to understand living organism by establishing a theory based on an ideal model that analyzes and predicts the desired output with understanding of interrelationships and dynamics between variables. Systems biology has an integrated and multi-dimensional nature that observes the interaction among the elements constructing the network. The current state of systems biology in TCM is categorized into 4 parts: diagnosis and syndrome, physical therapy, herbs and formulas and academic development of TCM systems biology and its technology. Diagnosis and syndrome field is focusing on developing TCM into personalized medicine by clarifying Kidney yin deficiency patterns and metabolic differences among five patterns of diabetes and analyzing plasma metabolism and biomarkers of coronary heart disease patients. In the field of physical therapy such as acupuncture and moxibustion, researchers discovered the effect of stimulating acupoint ST40 on gene expression and the effects of acupuncture on treating functional dyspepsia and acute ischemic stroke. Herbs and formulas were analyzed with TCM network pharmacology. The therapeutic mechanisms of Si Wu Tang and its series formulas are explained by identifying potential active substances, targets and mechanism of action, including metabolic pathways of amino acid and fatty acid. For the academic development of TCM systems biology and its technology, it is necessary to integrate massive database, integrate pharmacokinetics and pharmacodynamics, as well as systems biology. It is also essential to establish a platform to maximize herbal treatment through accumulation of research data and diseases-specific, or drug-specific network combined with clinical experiences, and identify functions and roles of molecules in herbs and conduct animal-based studies within TCM frame. So far, few literature reviews exist for systems biology in traditional Korean medicine and they merely re-examine known efficacies of simple substances, herbs and formulas. For the future, it is necessary to identify specific mechanisms of working agents and targets to maximize the effects of traditional medicine modalities. Conclusions : Systems biology is widely accepted and studied in TCM and already advanced into a field known as 'TCM systems biology', which calls for the study of incorporating TCM and systems biology. It is time for traditional Korean medicine to acknowledge the importance of systems biology and present scientific basis of traditional medicine and establish the principles of diagnosis, prevention and treatment of diseases. By doing so, traditional Korean medicine would be innovated and further developed into a personalized medicine.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• Journal of Oral Medicine and Pain
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• v.36 no.2
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• pp.99-105
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• 2011

The vermilion zone of the lips is mucocutaneous junction between the skin and the oral mucosa of lips. Diseases of the vermilion zone may be related to a local or systemic condition, and can be manifestation of a systemic disease. In this cases, we introduced patients with hemorrhagic, ulcerative lesions on the vermilion zone and reported plasma cell cheilitis and lesion of the vermilion zone related to Stevens-Johnson syndrome(SJS).

• Korean Journal of Animal Reproduction
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• v.15 no.2
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• pp.117-124
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• 1991

This stduy was conducted to find out the changes of estradiol-17$\beta$ and progesterone levels in the plasma of Cheju mares during gestatation period and before and after parturition with 12 heads of Cheju ponies. The results are as follows : 1. The estradiol-17$\beta$ and progesterone levels on the 1~4 months showed 61.6~134.2pg/ml and 7.74~9.20ng/ml respectively, but the estradiol-17$\beta$ levels rapidly increased to 426.4~1772.9pg/ml, and the progesterone levels decreased to 1.42~5.43ng/ml on the 5~10 months of gestation period. 2. The progesterone levels of the pregnant and the non-pregnant mares showed 4.80ng/ml and 0.04ng/ml in winter, respectively, but both of the two appeared 1,211.5pg/ml and 99.4pg/ml of estradiol-17$\beta$, respectively. Therefore the diagnosis of pregnancy might be more accurate with the levels of estrdiol-17$\beta$ in autumn. 3. The progesterone levels showed 3.20ng/ml the day before parturition and less than 1ng/ml on 2 days after parturition. The estradiol-17$\beta$ levels, showing the rising trend, and 90.1~162.4pg/ml up to 10 days.

• The Journal of Internal Korean Medicine
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• v.21 no.5
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• pp.705-713
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• 2000

Objectives : The purpose of this study was to investigate the effect of Intravascular Laser Irradiation of Blood(ILlB) by the live blood analysis. Methods : We had analysed the changing forms of the live blood samples with Ultra Darkfield Microscope before and after Intravascular Laser Irradiation of Blood. Results : 1. Somatid did not showed significant change. 2. In the rouleau of red blood cells was decreased significantly. 3. In the morphological change of red blood cells, Burr cell, Ovalocyte and Poikilocyte were decreased significantly, but Acanthocyte and Target cell were increased significantly. 4. In the abnormal matters in plasma, the Cholesterol cristal did not showed significant change, but the Aggregation of platelet, Lipids, Spicule, Leucocyte, Uric acid cristal did showed a little significant decrease. Conclusion : These findings suggest that live blood analysis is useful to judge the effect of treatment and diagnosis in oriental medicine, and with the effect of Intravascular Laser Irradiation of Blood, it had showed significant effect on rouleau of red blood cells, morphological change of red blood cells and abnormal matters in plasma.

• Proceedings of the Korean Vacuum Society Conference
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• 2013.02a
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• pp.194-195
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• 2013

초음속 공기 플라즈마 환경을 모사할 수 있는 0.4 MW급 Enhanced Huels형 초음속 공기 플라즈마 발생 장비가 2012년에 전북대학교에 설치 완료되었다. 초음속 공기 플라즈마 시험장비는 대기권으로 reentry 할 수 있는 비행체의 열차폐체 시험평가를 주목적으로 개발되었으며, 핵융합장치용 고온 내열체 소재개발에도 활용될 예정이다. 분절형 아크 플라즈마 토치는 전극부식에 의한 오염도를 적으면서 고출력의 안정적인 플라즈마를 발생시키며, 일반적인 직류 토치로는 얻을 수 없는 초고엔탈피 플라즈마 열유동을 얻을 수 있는 특징이 있다. 구축된 장비는 최대 직류 출력 1,200 kW의 DC 전원공급장치, 0.4 MW급의 분절형 아크 플라즈마 토치, ${\phi}1.5m{\times}2m$ 크기의 진공쳄버, 1 MW의 냉각 능력을 갖춘 디퓨저와 열교환기, 진공 용량 $100m^3$/min의 진공펌프 9대, 88 g/s의 공기유량에서 NOx를 50,000 ppm에서 100 ppm으로 저감할 수 있는 후처리 시스템, 4 bar 15 g/s의 공기를 공급할 수 있는 가스 공급장치, 30 bar 600 lpm의 저전도수와 4 bar 560 lpm의 일반수를 공급할 수 있는 냉각수 공급장치로 구성되어 있다. 초음속 공기 플라즈마의 발생 특성을 시험하기 위해 플라즈마 발생 조건으로 토치공급전력 350 kW와 410 kW, 토치 공기 공급 유량 16.3 g/s, 토치 내부압력 3.9~4.2 bar, 챔버압력 40 mbar으로 시험을 수행하였다. 발생된 플라즈마 상태를 진단하기 위해 속도는 쇄기 탐침기, 열유속은 Gardon 게이지, 엔탈피와 토치 효율은 토치의 공급전력과 냉각수에 의한 손실 전력으로 각각 측정하였다.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.18
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• pp.8253-8258
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• 2016

Elevated levels of soluble CD30 (sCD30) are linked with various T-cell neoplasms. However, the relationship between sCD30 levels and the development of adult T-cell leukemia (ATL) in human T-cell leukemia virus type 1 (HTLV-1) carriers remains to be clarified. We here investigated whether plasma sCD30 is associated with risk of ATL in a nested case-control study within a cohort of HTLV-1 carriers. We compared sCD30 levels between 11 cases (i.e., HTLV-1 carriers who later progressed to ATL) and 22 age-, sex- and institution-matched control HTLV-1 carriers (i.e., those with no progression). The sCD30 concentration at baseline was significantly higher in cases than in controls (median 65.8, range 27.2-134.5 U/mL vs. median 22.2, range 8.4-63.1 U/mL, P=0.001). In the univariate logistic regression analysis, a higher sCD30 (${\geq}30.2U/mL$) was significantly associated with ATL development (odds ratio 7.88 and the 95% confidence intervals 1.35-45.8, P = 0.02). Among cases, sCD30 concentration tended to increase at the time of diagnosis of aggressive-type ATL, but the concentration was stable in those developing the smoldering-type. This suggests that sCD30 may serve as a predictive marker for the onset of aggressive-type ATL in HTLV-1 carriers.

• Asian-Australasian Journal of Animal Sciences
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• v.6 no.1
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• pp.147-153
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• 1993

A total of 109 heads of horses and ponies from eight horseback riding clubs nearby Central Taiwan were investigated to evaluate the blood parameters and the biochemical compositions of serum for the documentation of clinical pathological diagnosis and exercise physiology. Blood samples were collected from the jugular vein of resting horses. The sex difference in the blood traits were compared both in horses and in ponies. Results shows that total plasma proteins (PP) and hematocrit (PCV) were found higher in male horses than in females (p < 0.05). The sexual effect also exertes a significant influence on the leucocyte (WBC) count, but not on the erythrocyte (RBC) concentration. According to the differential counts of leucocytes, the number of monocytes and lymphocytes was higher in the male pony than that of in male horse. A close relationship Between the erythrocyte sedimention rate (ESR) and the other blood parameters were found especially in PCV, RBC concentration, and plasma protein level. The average ESR observed at 60 minutes were $21.80{\pm}21.87mm$, $39.50{\pm}18.90mm$ and $43.73{\pm}17.89mm$ in stallions, geldings, and mares, respectively. Most of the biochemical components of horse serum detected were distributed in normal ranges, although some of the items show a great variation in such a large sample size.