• Title/Summary/Keyword: HMG2

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Organic Acidopathies as Etiologic Diseases of Seizure Disorders in Korean Childhood and Adolescent Age Group (한국인 소아청소년기 발작의 원인질환으로서의 유기산대사이상질환)

  • Kim, Hui Kwon;Lee, Jong Yoon;Lee, Ye Seung;Bae, Eun Joo;Oh, Phil Soo;Park, Won Il;Lee, Hong Jin
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.12 no.1
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    • pp.23-34
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    • 2012
  • Purpose: Acute symptomatic seizures are caused by structural changes, inflammation or metabolic changes of brain, such as tumor, stroke, meningitis, encephalitis and metabolic disorders. Inherited metabolic disorders that can cause seizures are organic acidopathies, lysosomal storage disorders, peroxisomal disorders and mineral disorders. We have done this study to find out the importance of organic acidopathies causing seizure disorders in Korean childhood and adolescent patients. Method: Retrograde analysis for 1,306 patients with seizure disorders whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 1,306 patients, 665 patients (51%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (394, 30.1%), followed by mandelic aciduria (127, 9.7%), ketolytic defects (81, 6.2%), 3-hydroxyisobutyric aciduria (19, 1.4%), glutaric aciduria type II (10, 0.8%), ethylmalonic aciduria (4), propionic aciduria (4), methylmalonic aciduria (3), glutaric aciduria type I (3), pyruvate dehydrogenase deficiency (3), pyruvate carboxylase deficiency (3), isovaleric aciduria (2), HMG-CoA lyase deficiency (2), 3-methylcrotonylglycinuria (2), fatty acid oxidation disorders (2), fumaric aciduria (1), citrullinemia (1), CPS deficiency (1), MCAD deficiency (1). Conclusion: On neonatal period, mandelic aciduria due to infection was found relatively frequently. Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every seizure patient.

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Organic Acidopathies as Etiologic Diseases of Developmental Delay in Korean Childhood and Adolescent Age Group (한국인 소아청소년기 발달지연의 원인질환으로서의 유기산대사이상질환)

  • Lee, Jong Yoon;Lee, Ye Seung;Choi, Joong Wan;Bae, Eun Joo;Park, Won Il;Oh, Phil Soo;Lee, Hong Jin
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.12 no.2
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    • pp.85-93
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    • 2012
  • Purpose: Developmental delay is caused by very diverse etiologic diseases. Most chronic disorders has some influence on development. Chronic or acute disorders of CNS are main etiologic diseases of developmental delay. Up to now, over 60 diseases are included in organic acidopathies and most of them causes acute or chronic recurrent CNS damage and developmental delay. We have done this study to find out the importance of organic acidopathies causing developmental delay in Korean childhood and adolescent patients. Method: Retrograde analysis for 738 patients with developmental delay whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 738 patients, 340 patients (46.1%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (MRCD) (253, 34.3%), followed by ketolytic defects(39, 5.3%), 3-hydroxyisobutyric aciduria (26, 3.5%), glutaric aciduria type II (8, 1.1%), pyruvate dehydrogenase deficiency (3, 0.4%), 3-methylglutaric aciduria (2, 0.3%), glutaric aciduria type I (2, 0.3%), ethylmalonic aciduria (1, 0.15%), methylmalonic aciduria (1, 0.15%), HMG-CoA lyase deficiency (1, 0.15%), 3-methylcrotonylglycinuria (1, 0.15%), fatty acid oxidation disorders(1, 0.15%) and FAOD (1, 0.15%). Conclusion: Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every developmental patient.

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Quantitative Analysis of Lovastatin in Human Plasma and urine by Reversed-Phase High-Performance Liquid Chromatography (역상 고속액체크로마토그라프법을 이용한 혈장 및 뇨 중 로바스타틴의 정량)

  • Choi, Hye-Jin;Kim, Myoung-Min;Choi, Kyung-Eob
    • YAKHAK HOEJI
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    • v.42 no.5
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    • pp.473-479
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    • 1998
  • Lovastatin (LOVA), a fungal metabolite isolated from cultures of Aspergillus terreus, is a competitive HMG-CoA reductase inhibitor used for the treatment of primary hyper cholesterolemia, and has also been shown to suppress growth in a variety of non-glioma tumor cell lines. A sensitive reversed-phase high-perfonnance liquid chromatographic method with ultraviolet (UV) absorbance detection has been developed to quantitate LOVA in human plasma and urine samples using liquid-liquid extraction procedure. Baseline separation of LOVA and internal standard, simvastatin was achieved on a Novapak $C_{18}$ analytical column with a mobile phase containing 0.025M $NaH_2PO_4$: CAN (35:65, v/v%), adjusted pH to 4.5. The flow rate was set at 1.5ml/min, and the column effluent was monitored by a UV detection at 238nm. The limit of quantification was determined to be 0.5${\mu}$g/ml while extraction efficiency of LOVA ranged from 73.4-82.9% at LOVA concentrations of 0.5 to 10${\mu}$g/ml. Good linearity with correlation coefficients greater than 0.999 was obtained in the range of LOVA concentrations from 0.5 to 10${\mu}$g/ml. The accuracy and the precision were proven excellent with relative standard deviation (RSD, %) and relative error (RE, %) of less than 4.2 and 4.0, respectively. Intraday precision, evaluated at five LOVA concentrations (0.5, 1, 2, 5, 10${\mu}$g/ml) and expressed as RSD ranged from 0-1.82% while the interday precision at the same concentrations ranged from 0.7-10.5%. The analytical method described was then successfully employed for the determination of LOVA concentrations in plasma samples obtained during a phase II clinical trial using high doses of LOVA (30-40mg/kg/day). This method could be further utilized for the ongoing pharmacolkinetic studies and therapeutic drug monitoring of the high-dose LOVA therapy in adenocarcinoma patients.

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Pregnancies by In Vitro Fertilization and Embryo Transfer (체외수정과 배이식에 의한 임신성공예에 관한 연구)

  • Ku, Pyong-Sahm;Yoo, Dong-Wha;Lee, Kyu-Won;Rha, Joong-Yul;Hong, Sung-Bong;Bae, In-Ha
    • Clinical and Experimental Reproductive Medicine
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    • v.13 no.2
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    • pp.121-127
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    • 1986
  • We have reviewed 59 cases of patients amoung 65 cases who underwent IVF and ET with reasonable indications irom 1984 and the results as follows. 1. Major indications for IVF and ET were tubal factor (40.7%), unexplained infertility (25.4%), endometriosis (15.3%), failed AID and AIH (10.1 %), and sperm abnormality (8.5%). 2. For superovulation of human oocytes, l00mg of clomiphene citrate and 75 IU of HMG used. The monitoring of oocyte maturation was bone by ultrasound examination and serum 17-${\beta}$ estradiol, LH values. The peak $E_2$ value was 956.36${\pm}$702.13 pg/ml. 3. The oocytes were obtained by laparoscopy 24-36 hours after the injection of HCG. 4. The mean numbers of follicles at laparoscopy was 3.06 and the successful rate of laparoscopy was 79.7%. 5. And 165 follicles were aspirated from which 98 oocytes were recovered, 59.4% of all follicles had at least one oocyte aspirated. 21.4% of the eggs were mature, 52.0% were moderate, 26.5%. were immature. 6. 67.3% of oocytes were cleaved and were transferred at 4-6 cell stages. 7. Four pregnancies including one chemical pregnancy and one spontaneous abortion were established by ${\beta}$-subunit, u-hCG and ultrasound examinations.

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Effect of onion and beet on plasma and liver lipids, platelet aggregation, and erythrocyte Na efflux in simvastatin treated hypercholesterolmic rats

  • Kim, Jung-Lye;Chae, In-Sook;Kang, Young-Hee;Kang, Jung-Sook
    • Nutrition Research and Practice
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    • v.2 no.4
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    • pp.211-217
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    • 2008
  • This study was purposed to investigate the effect of onion or beet on plasma and liver lipids, erythrocyte Na efflux channels and platelet aggregation in simvastatin (SIM) treated hypercholesterolemic rats. Forty Sprague Dawley rats were divided into four groups and fed 0.5% cholesterol based diets containing 2 mg/kg BW simvastatin or simvastatin with 5% onion or beet powder. Plasma total cholesterol was significantly increased in SIM group compared with the control (p<0.01), and the elevated plasma total cholesterol of SIM group was significantly decreased in SIM-onion and SIM-beet groups (p<0.05). HDL-cholesterol in SIM-beet group was significantly increased compared with other groups (p<0.05). Platelet aggregation in both the maximum and initial slope was significantly decreased in SIM group compared with SIM-onion group (p<0.05). Na-K ATPase was significantly decreased in SIM group compared with the control, SIM-onion and SIM-beet groups (p<0.05). Na passive leak was significantly increased in all groups treated with SIM compared with the control (p<0.05). The total Na efflux was decreased in SIM group and increased in SIM-onion group and the difference between these two groups was significant (p<0.05). There was no difference in intracellular Na among groups. In present study, simvastatin, a HMG CoA reductase inhibitor at dose of 2mg/kg BW/day rather increased plasma total cholesterol in rats, inferring that the action mechanism of simvastatin on cholesterol metabolism differ between rat and human. Onion and beet play favorable roles in cardiovascular system by restoring the reduced Na efflux through Na-K ATPase and Na-K cotransport in SIM treated rats.

Induction of Ovulation with Clomiphene Citrate (Clomiphene Citrate를 이용한 배란유도에 관한 연구)

  • Moon, S.Y.;Yoon, B.K.;Yoon, B.H.;Kim, J.G.;Lee, J.Y.;Chang, Y.S.
    • Clinical and Experimental Reproductive Medicine
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    • v.12 no.2
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    • pp.15-23
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    • 1985
  • Therapy for anovulation represents one of the more gratifying and successful type of infertility management. Despite the introduction of bromocriptine, human menopausal gonadotropin (HMG), and gonadotropin releasing hormone (GnRH), clomiphene citrate remains the mainstay of ovulation induction therapy. There is wide variability in reported rates of ovulation induction (57-91%) and conception (25-43%) following clomiphene therapy. Factors contributing to this variability among different reports are the differences in dosage and duration of therapy, different criteria utilized in selecting patients for clomiphene therapy and different luteal phase parameters of presumptive ovulation. A review of recent experience with clomiphene citrate in the Department of Obstetrics and Gynecology in Seoul National University from January, 1983 to May, 1985 yields the following conclusions: 1. Ovulation rate per total patients treated was, 69.0% 2. Pregnancy rate per total patients treated was 31.7%, and that per total patients ovulated was 45.9%. 3. Ovulation rate at the dosage level up to 150 mg/day (50.3-53.8%) was somewhat higher than that at 200 mg/day or more (33.3-34.6%), and pregnancy rate per total patients treated was comparable at each dosage level. 4. Ovulation rate per total patients ovulated at each dosage level, where ovulation and conception occurred, showed a decreasing tendency as the dosage increased, but pregnancy rate per total patients conceived was comparable except at 200 mg/day. 5. Cumulative pregnancy rate per total patients conceived in each ovulatory cycle was 68.9% in 3 cycles, 88.9% in 4 cycles, and 100% in 6 cycles.

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Exponential Rise Rate of Serum Estradiol Concentrations and the Outcome of Ovulation Induction by Human Menopausal Gonadotropin (혈청 Estradiol 농도의 지수함수적 증가율이 Human Menopausal Gonadotropin 배란유도 결과에 미치는 영향)

  • Bai, K.B.;Kim, J.G.;Moon, S.Y.;Lee, J.Y.;Chang, Y.S.
    • Clinical and Experimental Reproductive Medicine
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    • v.14 no.2
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    • pp.119-126
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    • 1987
  • Exponential rise rate(ERR) of serum estradiol concentrations during active follicular phase was calculated for 49 ovulation induction cycles by human menopausal gonadotropin to know the ovulation induction outcome according to ERR classified into 3 groups with low, moderate and high ERR values(Group I${\leqq}$0.3, 0.3${\leqq}$0.6,Group III>0.6). The results were summarised as follows : 1. No significant difference in the dosage of human menopausal gonadotropin was identified in each group. 2. The mean serum estradiol concentration at the day of human chorionic gonadotropin injection in Group II and Group ill was significantly higher than that in Group I . 3. The mean diameter of leading follicles at the day of human chorionic gonadotropin injection showed no significant difference in each group. 4. No significant difference in the ovulation rate was observed in relation to ERR. How ever, 20% and 20.8% of pregnancy rate in Group I and Group II were achieved while no pregnancy was occurred in Group III. 5. The ovarian hyperstimulation frequency was significantly higher in Group ill that in Group I and Group II. In conclusion, the study suggests that exponential rise rate of serum estradiol is a useful tool in HMG ovulation induction by preventing ovarian hyperstimulation without reducing pregnancy success rate.

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The Effects of Ssanggang-tang($Shu\bar{a}ngji\grave{a}ng-t\bar{a}ng$) on Rat with Induced Hyperlipidemia (쌍강탕(雙降湯)이 고(高)cholesterol 식이(食餌)로 유발(誘發)된 고지혈증(高脂血症) 백서(白鼠)에 미치는 영향(影響))

  • Lee, Jae-Hwi;Lim, Seung-Min;An, Joung-Jo;Jo, Hyun-Kyung;Kim, Yoon-Sik;Seol, In-Chan;Yoo, Ho-Rhyong
    • The Journal of Internal Korean Medicine
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    • v.29 no.2
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    • pp.432-442
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    • 2008
  • Objective : Ssanggang-tang(SGT) is noted as an effective method to treat hyperlipidemia in China. The main purpose of this study was analysis of the effects of Ssanggang-tang(SGT) on rats induced with caused hyperlipidemia. Methods : We observed 3 experimental groups: normal, control, and SGT. Rats were provided a normal diet in the normal group, and the other groups were provided a hyperlipidemic diet to induce hyperlipidemia. After 2 weeks, SGT was treated in the SGT group. For 6 weeks, values related to hyperlipidemia were observed in the 3 experimental groups. Results : SGT decreased some values related to hyperlipidemia like total cholesterol, low density lipoprotein cholesterol(LDL cholesterol), triglyceride, acetocoenzyme A acetyltransferase(ACAT), and 3-hydroxy-3-methylglutaryl coenzyme A reductase(HMG-CoA reductase). However, it showed no effect on weight change or high density lipoprotein cholesterol(HDL cholesterol). Conclusion : These results suggest that SGT might be effective in treatment and prevention of hyperlipidemia.

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Microarray and Quantitative PCR Analysis of Gene Expression Profiles in Response to Treatment with Tomato Leaf Extract in MCF-7 Breast Cancer Cells

  • Amid, Azura;Chik, Wan Dalila Wan;Jamal, Parveen;Hashim, Yumi Zuhanis Has-Yun
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6319-6325
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    • 2012
  • We previously found cytotoxic effects of tomato leaf extract (TLE) on the MCF-7 breast cancer cell line. The aim of this study was to ascertain the molecular mechanisms associated with the usage of TLE as an anticancer agent by microarray analysis using mRNA from MCF-7 breast cancer cells after treatment with TLE for 1 hr and 48 hrs. Approximately 991 genes out of the 30,000 genes in the human genome were significantly (p<0.05) changed after the treatment. Within this gene set, 88 were significantly changed between the TLE treated cells and the untreated MCF-7 cells (control cells) with a cut-off fold change >2.00. In order to focus on genes that were involved in cancer cell growth, only twenty-nine genes were selected, either down-regulated or up-regulated after treatment with TLE. Microarray assay results were confirmed by analyzing 10 of the most up and down regulated genes related to cancer cells progression using real-time PCR. Treatment with TLE induced significant up-regulation in the expression of the CRYAB, PIM1, BTG1, CYR61, HIF1-${\alpha}$ and CEBP-${\beta}$ genes after 1 hr and 48 hrs, whereas the TXNIP and THBS1 genes were up-regulated after 1 hr of treatment but down-regulated after 48 hrs. In addition both the HMG1L1 and HIST2H3D genes were down-regulated after 1 hr and 48 hrs of treatment. These results demonstrate the potent activity of TLE as an anticancer agent.

Nutritional Characteristics and Physiological Functionality of Antidementia Acetylcholinesterase Inhibitor-containing Methanol Extract from Sorghum bicolor (항치매성 아세틸콜린에스터레이즈 저해 물질을 함유한 수수(Sorghum bicolor) 메탄올 추출물의 영양학적 특성과 생리 기능성)

  • Song, Jung-Eun;Song, Jung-Hwa;Cho, Soo-Muk;Min, Gyung-Hun;Lee, Jong-Soo
    • The Korean Journal of Food And Nutrition
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    • v.23 no.2
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    • pp.226-232
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    • 2010
  • 새로운 항치매성 건강식품을 개발하기 위해 아세틸콜린에스터레이즈(AChE)를 강력하게 저해하는 추출물을 곡류와 두류의 다양한 추출물로부터 선발한 후 최적 추출 조건을 조사하였다. 추출물 중 수수 메탄올 추출물이 63.4%의 가장 높은 AChE 저해 활성을 보였다. 수수를 80% 메탄올로 $40^{\circ}C$에서 12시간 추출했을 때 최대의 AChE 저해 활성을 나타내었다. AChE를 저해하는 수수 메탄올 추출물의 영양성과 생리 기능성을 조사하였다. 메탄올 추출물은 유리당으로 고형물 100 g당 4.78 g의 포도당과 4.13 g의 자당 및 0.97 g의 과당을 함유하였다. 또한, 수수 메탄올 추출물의 고형물 100 g에 linoleic acid 273.82 mg, oleic acid 215.65 mg, palmitic acid 122.03 mg, stearic acid 4.96 mg을 함유하고 있었고, 주요 유기산으로 주석산 27.45 mg, 말론산 15.43 mg, 사과산 9.94 mg이 메탄올 추출물 1 g에 함유되어 있었다. 수수 메탄올 추출물은 항치매 활성 외에도 콜레스테롤 합성을 저해하는 HMG-CoA reductase 저해 활성이 50.2%이었고, 항산화 활성은 56.1%를 보였다.