1.Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists
Prasit PHOWTHONGKUM ; Kanya SUPHAPEETIPORN ; Vorasuk SHOTELERSUK
Clinical and Molecular Hepatology 2019;25(4):412-416
No abstract available.
Adult
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Carnitine
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Hepatitis
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Humans
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Transferases
2.N-acetyl Transferase 2 Gene Polymorphisms in Patients with Endometriosis.
Young Min CHOI ; Ji Sung YOON ; Seung Yup KU ; Kyu Sup LEE ; Sung Hyo PARK ; Eun Ran CHANG ; Noh Hyun PARK ; In Ae PARK ; Jong Kwan JUN ; Chang Suk SUH ; Seok Hyun KIM ; Jung Gu KIM ; Shin Yong MOON
Korean Journal of Obstetrics and Gynecology 2003;46(11):2113-2117
OBJECTIVE: To explore the association of the N-acetyl transferase 2 (NAT 2) gene polymorphisms with endometriosis. METHODS: One hundred seventy-two women with surgically or histologically diagnosed endometriosis of stages I-IV, and 205 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Genotype distribution of NAT 2 polymorphisms and frequencies of slow and fast acetylators in affected women and controls were evaluated. RESULTS: There was no statistically significant difference in the genotype distribution of NAT 2 polymorphisms and frequencies of slow and fast acetylators between the patients with endometriosis and the controls. CONCLUSION: These results suggest that N-acetyl transferase 2 gene polymorphisms is not associated with the risk for endometriosis in the Korean population.
Endometriosis*
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Female
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Genotype
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Humans
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Laparoscopy
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Laparotomy
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Transferases*
3.Gouty Synovitis of the Knee with Partial Hypoxanthine-guanine Phosphoribosyl Transferase Deficiency (Kelley-Seegmiller Syndrome): A Case Report
Tsuyoshi Ohishi ; Tetsuya Ichikawa ; Michihito Miyagi ; Hiroshi Irisawa ; Akira Nagano
Journal of Rural Medicine 2008;4(2):80-83
We present here a case of gouty synovitis of the knee in a patient with partial hypoxanthine-guanine phosphoribosyl transferase deficiency (Kelley-Seegmiller syndrome), which is an inherited purine metabolic disorder. Magnetic resonance images and computed tomography showed a diffuse mass with stippled calcification around the posterior cruciate ligament (PCL) in the posterior intercondylar notch. Arthroscopic examination revealed that the articular surfaces and menisci in the affected knee were almost completely covered with white chalky monosodium urate (MSU) crystals. The diffuse mass around the PCL was composed of proliferative synovial villi covered with MSU crystals that looked like "snow covered trees". Arthroscopic total synovectomy was performed. The posterior trans-septal portal was especially useful for removal of the proliferative villi around the PCL. To our knowledge, this is the first report of arthroscopic examination in a patient with Kelley-Seegmiller syndrome.
Knee
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Posters [Publication Type]
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Transferases
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Synovitis
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Syndrome
4.Chromosome aberration and glutathio -S- transferase activitiy in peripheral lymphocytes of workers exposed to ethylene oxide.
Jin Sook KIM ; Sung Eun LEE ; Hai Won CHUNG
Korean Journal of Epidemiology 1993;15(2):212-221
No abstract available.
Chromosome Aberrations*
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Ethylene Oxide*
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Lymphocytes*
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Transferases*
5.Identification of terpene synthase gene family in Gynostemma pentaphyllum and expression pattern analysis under abiotic stresses.
Wei LING ; Yan-Hong QIN ; Ding HUANG ; Ru-Hong MING ; Yong TAN
China Journal of Chinese Materia Medica 2023;48(4):930-938
The present study aimed to investigate the composition of the terpene synthase(TPS) gene family in Gynostemma pentaphyllum and its role in abiotic stresses. The G. pentaphyllum TPS gene family was identified and analyzed at the genome-wide level using bioinformatics analysis, and the expression patterns of these family members were analyzed in different tissues of G. pentaphyllum as well as under various abiotic stresses. The results showed that there were 24 TPS gene family members in G. pentaphyllum with protein lengths ranging from 294 to 842 aa. All of them were localized in the cytoplasm or chloroplasts and unevenly distributed on the 11 chromosomes of G. pentaphyllum. The results of the phylogenetic tree showed that the G. pentaphyllum TPS gene family members could be divided into five subfamilies. As revealed by the analysis of promoter cis-acting elements, TPS gene family members in G. pentaphyllum were predicted to respond to a variety of abiotic stresses such as salt, low temperature, and dark stress. The analysis of gene expression patterns in different tissues of G. pentaphyllum revealed that nine TPS genes were tissue-specific in expression. The qPCR results showed that GpTPS16, GpTPS17, and GpTPS21 responded to a variety of abiotic stresses. This study is expected to provide references in guiding the further exploration of the biological functions of G. pentaphyllum TPS genes under abiotic stresses.
Gynostemma
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Phylogeny
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Alkyl and Aryl Transferases
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Chloroplasts
6.Systematic identification of chemical forms of key terpene synthase in Cinnamomum camphora.
Qing MA ; Rui MA ; Ping SU ; Ye SHEN ; Mei-Lan CHEN ; Bao-Long JIN ; Shao-Lin OUYANG ; Juan GUO ; Guang-Hong CUI ; Lu-Qi HUANG
China Journal of Chinese Materia Medica 2023;48(9):2307-2315
Cinnamomum camphora is an important economic tree species in China. According to the type and content of main components in the volatile oil of leaf, C. camphora were divided into five chemotypes, including borneol-type, camphor-type, linalool-type, cineole-type, and nerolidol-type. Terpene synthase(TPS) is the key enzyme for the formation of these compounds. Although several key enzyme genes have been identified, the biosynthetic pathway of(+)-borneol, which has the most economic value, has not been reported. In this study, nine terpenoid synthase genes CcTPS1-CcTPS9 were cloned through transcriptome analysis of four chemical-type leaves. After the recombinant protein was induced by Escherichia coli, geranyl pyrophosphate(GPP) and farnesyl pyrophosphate(FPP) were used as substrates for enzymatic reaction, respectively. Both CcTPS1 and CcTPS9 could catalyze GPP to produce bornyl pyrophosphate, which could be hydrolyzed by phosphohydrolase to obtain(+)-borneol, and the product of(+)-borneol accounted for 0.4% and 89.3%, respectively. Both CcTPS3 and CcTPS6 could catalyze GPP to generate a single product linalool, and CcTPS6 could also react with FPP to generate nerolidol. CcTPS8 reacted with GPP to produce 1,8-cineol(30.71%). Nine terpene synthases produced 9 monoterpene and 6 sesquiterpenes. The study has identified the key enzyme genes responsible for borneol biosynthesis in C. camphora for the first time, laying a foundation for further elucidating the molecular mechanism of chemical type formation and cultivating new varieties of borneol with high yield by using bioengineering technology.
Cinnamomum camphora/enzymology*
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Alkyl and Aryl Transferases/chemistry*
7.Genome mining of fungal globin-like enzymes for catalyzing the synthesis of linear terpenes.
Li LIU ; Xiwei CHEN ; Yi ZOU
Chinese Journal of Natural Medicines (English Ed.) 2022;20(10):795-800
Genome mining for the search and discovery of two new globin-like enzymes, TriB fromFusarium poae and TutaA from Schizophyllum commne, are involved in the synthesis of two linear terpenes tricinonoic acid (1) and 2-butenedioic acid (3). Both in vivo heterologous biosynthesis and in vitro biochemical assays showed that these two enzymes catalyzed the C-C double bond cleavage of a cyclic sesquiterpene precursor (-)-germacrene D (7) and a linear diterpene backbone schizostain (2), respectively. Our work presents an unusual formation mechanism of linear terpenes from fungi and expands the functional skills of globin-like enzymes in the synthesis of terpene compounds.
Terpenes/chemistry*
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Alkyl and Aryl Transferases
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Globins
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Diterpenes
8.Urinary enzyme levels after ESWL for renal stone.
Hwan Sik CHOI ; Sung Hyup CHOI
Korean Journal of Urology 1993;34(1):103-108
ESWL is a safe and effective treatment for renal calculi. However, on destruction of the stone, the pressure of shock waves produces renal microdamage. Urinary enzyme testing has been used to diagnosis and monitor various types of renal injured. Three urinary enzymes, N-acetyl-beta- glucosaminidase, beta-galactosidase, gamma-glutamyl transferase in 24 hour urine were monitored in 20 patients before and after ESWL and in 5 controls. The ESWL, a single session treatment, was performed using EDAP LT-01. The amount of the shock wave treated was same regardless of stone size and location. The results were obtained as follows. 1. Post-ESWL N-acetyl-beta-glucosaminidase level was higher than that of control on day 1 and showed a rapid decrease on day 3, and returned to normal by day 28. 2. Post-ESWL beta-galactosidase level was higher than that of control on day 1 and was still higher on day 7, and returned to normal by day 28. 3. Post-ESWL gamma-glutamyl transferase level reached to a peak on day 1 and showed a rapid decrease on day 3, and returned to normal by day 28. In summary, ESWL for renal stones elevates urinary enzymes transiently, which was on peak one day after the treatment and returned to nearly normal level by 1 month after the treatment. Therefore, urinary enzymes seem to be useful in evaluation of the functional recovery of the kidney after ESWL.
beta-Galactosidase
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Diagnosis
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Hexosaminidases
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Humans
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Kidney
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Kidney Calculi
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Shock
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Transferases
9.Evaluation of the Performance of LABGEO PT Hepatic Test 9.
Tae Dong JEONG ; Hyun Jung KANG ; Min Sook KIM ; So Young KIM ; Woochang LEE ; Sail CHUN ; Won Ki MIN
Laboratory Medicine Online 2013;3(3):138-144
BACKGROUND: The Samsung LABGEO PT Hepatic Test 9 (Samsung electronics, Korea) was developed as a point-of-care (POC) testing device. The levels of 9 analytes, namely, albumin, AST, ALT, alkaline phosphatase, gamma-glutamyl transferase, glucose, total bilirubin, direct bilirubin, and total protein, could be evaluated simultaneously by using 70 microL of whole blood, plasma, or serum samples. In this study, we assessed the performance of the Samsung LABGEO PT Hepatic Test 9. METHODS: The precision and linearity of the test were evaluated according to the CLSI EP5-A2 and CLSI EP6-A guidelines, respectively. Correlational analyses between Samsung LABGEO PT Hepatic Test 9 and Cobas 8000 modular analyzer (Roche, Switzerland) were carried out as per the CLSI EP9-A2 guidelines. Additionally, the results between 3 different specimen types, whole blood, plasma, and serum samples obtained from the same individual were compared to evaluate the matrix effect. RESULTS: The total imprecision at both low and high levels of the 9 analytes was within 10% and in the clinically important concentration range for all test items, all obtained results were linear. We compared the above results with those obtained using Cobas 8000 and a good correlation was observed with a correlation coefficient of more than 0.975 for all 9 analytes. Simple linear regression analyses between the 3 different specimen types indicated that there was no statistically significant difference (P<0.001). CONCLUSIONS: The Samsung LABGEO PT Hepatic Test 9 showed good precision and linearity when compared to established assays for 9 clinical test items and could be useful in cases where the POC testing is required.
Alkaline Phosphatase
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Bilirubin
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Electronics
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Electrons
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Glucose
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Linear Models
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Plasma
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Transferases
10.One-Year Open-Label Study of Entacapone in Patients with Advanced Parkinson Disease.
Tae Beom AHN ; Joo Hyuk IM ; Myoung Chong LEE ; Jae Woo KIM ; Won Yong LEE ; Beom S JEON
Journal of Clinical Neurology 2007;3(2):82-85
BACKGROUND AND PURPOSE: A carboxy-O-methyl transferase inhibitor entacapone has been introduced as an adjuvant drug for Parkinson disease (PD) patients. Although clinical trials reported beneficial role of entacapone, a long-term trial over 3 years failed to show significant effect. The goals of this study were to evaluate the clinical benefit and the efficacy of entacapone in an open clinical practice. METHODS: After the completion of a double-blind placebo-controlled entacapone study, 149 patients from 4 centers were included. Antiparkinsonian medications were optimized by the judgment of the neurologists in charge. The clinical global impression (CGI) scale was obtained at 6 months and 1 year after the initiation of entacapone treatment. RESULTS: Of the 149 patients, 117 patients chose to try entacapone in an open-label fashion. Sixty-nine (59%) patients completed the 1-year trial. Twenty-nine patients discontinued entacpaone before 6 months, and 19 between 6 months and 1 year during trial. Twelve patients out of 48 patients discontinued entacapone because of its poor efficacy. The CGI scale was 3.9 (+/-1.5) at the beginning of the trial, 4.3 (+/-1.1) at 6 month, and 3.8 (+/-1.3) at 1 year, respectively. The CGI scale of those who discontinued between 6 month and 1 year was 3.4 (+/-1.7), which was worse, but insignificantly, than that of the continuer. CONCLUSIONS: The dropout at 1 year of our study was very high at 41%. Even though entacapone is indicated for advanced PD patients with motor fluctuation, the fluctuators commonly have dyskinesia and mental symptoms, which can become more troublesome with entacapone. In the patients with advanced PD, the clinical efficacy and side effects should be carefully considered in a long-term use of entacapone.
Dyskinesias
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Humans
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Judgment
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Parkinson Disease*
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Patient Dropouts
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Transferases