• Title/Summary/Keyword: Genetic evaluation

Search Result 891, Processing Time 0.028 seconds

Multi-Parameter Approach for Evaluation of Genomic Instability in the Polycystic Ovary Syndrome

  • Sekar, Nishu;Nair, Manju;Francis, Glory;Kongath, Parvathy Raj;Babu, Sandhya;Raja, Sudhakaran;Gopalakrishnan, Abilash Valsala
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.16 no.16
    • /
    • pp.7129-7138
    • /
    • 2015
  • Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value ($45.9^{\circ}$) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

Evaluation of the Genetic Toxicity of Synthetic Chemicals (Ⅶ) -A Synthetic Selective Herbicide, Pendimethalin- (합성화학물질들의 유전독성평가(Ⅶ) -합성 제초제인 Pendimethalin-)

  • Ryu, Jae-Chun;Kim, Kyung-Ran
    • Environmental Analysis Health and Toxicology
    • /
    • v.18 no.2
    • /
    • pp.121-129
    • /
    • 2003
  • The genotoxicity of pendimethalin [N-(l-ethylpropyl)-2, 6-dinitro-3, 4-xylidine, C$\_$13/H$\_$19/N$_3$O$_4$, M.W.=281.3, CAS No. 40487-42-1], one of selective herbicide, was evaluated in bacterial gene mutation system, chromosome aberration in mammalian cell system and in vivo micronucleus assay with rodent. In bacterial gene mutation assay, pendimethalin revealed dose-dependent mutagenic potential in 313 ∼ 5,000 ${\mu}$g/plate of Salmonella typhimurium TA 98 and TA 1537 both in the absence and presence of S-9 metabolic activation system, and TA 100 only in the absence of S-9 mixture. In the TA 1535, slight increase of revertant was also observed in the presence of S-9 metabolic activation system. No mutagenic potential was observed in the TA 1535 without metabolic activation system and TA l00 in the presence of S-9 mixture. In mammalian cell system using Chinese hamster lung (CHL) fibroblast, no clastogenicity of pendimethalin was observed both in the absence and presence of S-9 metabolic activation system in the concentration range of 2.32∼9.28 ${\mu}$g/ml. And also, in vivo bone marrow micronucleus assay, pendimethalin revealed no clastogenic potential in the dose range of 203∼810 mg/kg body weight after oral administration in mice. Consequently, in vitro chromosome aberration with mammalian cells and in vivo bone marrow micronucleus assay revealed no clastogenic potential of pendimethalin. However, pendimethalin revealed mutagenic potential in bacterial gene mutation assay.

Clinical and Electrophysiological Features of HNPP Patients with 17p11.2 Deletion (염색체 17p11.2 유전자 결손을 동반한 유전성 압박마비 편향 신경병증의 임상적, 전기생리학적 특성)

  • Hong, Yoon-Ho;Kim, Manho;Sung, Jung-Joon;Kim, Sung Hun;Lee, Kwang-Woo
    • Annals of Clinical Neurophysiology
    • /
    • v.4 no.2
    • /
    • pp.125-132
    • /
    • 2002
  • Objectives : Although the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) is important for correct prognostic evaluation and genetic counseling, the diagnosis is frequently missed or delayed. Our main aim on undertaking this study was to characterize the electrodiagnostic features of HNPP. Material and Methods : Clinical, electrophysiologic and molecular studies were performed on Korean HNPP patients with 17p11.2 deletion. The results of electrophysiologic studies were compared with those of Charcot-Marie-Tooth disease type 1A (CMT1A) patients carrying 17p11.2 duplication. Results : Eight HNPP (50 motor, 39 sensory nerves) and six CMT1A (28 motor, 16 sensory nerves) patients were included. The slowing of sensory conduction in nearly all nerves and the distal accentuation of motor conduction abnormalities are the main features of background polyneuropathy in HNPP. In contrast to CMT1A, where severity of nerve conduction slowing was not different among nerve groups, HNPP sensory nerve conduction was more slowed in the median and ulnar nerves than in the sural nerve (p<0.01), and DML was more prolonged in the median nerve than in the other motor nerves (p<0.01). TLIs were significantly lower in HNPP than in the normal control and CMT1A patients for the median and ulnar nerves (p<0.01), and were also significantly reduced for the peroneal nerve (p<0.05) compared with those of the normal controls. Conclusion : The distribution and severity of the background electrophysiologic abnormalities are closely related to the topography of common entrapment or compression sites, which suggests the possible pathogenetic role of subclinical pressure injury at these sites in the development of the distinct background polyneuropathy in HNPP.

  • PDF

Comparison of Meat Quality and Sensory Characteristics of Different Native Chickens in Korean Market (시중 유통 토종닭의 품종별 품질 및 관능 특성 비교)

  • Cha, Ju-Su;Kim, Sun Hyo;Jung, Samuel;Kang, Ho Jin;Jo, Cheorun;Nam, Ki-Chang
    • Korean Journal of Poultry Science
    • /
    • v.41 no.1
    • /
    • pp.53-59
    • /
    • 2014
  • To evaluate the meat quality differences of Korean Native Chickens (KNC) available in Korean market, the physicochemical and sensory characteristics of a broiler and two KNC (HH and WD breed) were analyzed. The fat content of KNC WD breast meat was higher than that of KNC HH. The breast and thigh meats of KNC HH had higher $L^*$ and $a^*$ values than the broiler or the KNC WD. WD meats showed greater DPPH radical scavenging activity and higher pH values than the HH. For the fatty acid composition, there was no significant difference in total content of the saturated fatty acids among chicken breeds (p>0.05). KNC had greater content of polyunsaturated fatty acids, especially arachidonic acid (20:4) and DHA (22:6), compared with the broiler. KNC WD meats had higher composition of linolenic acid (18:3) than the KNC HH. For sensory evaluation, the WD breast meat showed higher taste and tenderness scores than the HH. On the other hand, the soup made by broiler had higher taste scores than the KNC. The breast and thigh meat from two KNC breeds showed different quality parameters that may come from the differences of genetic attributes, feed, and production strategy between two breeds.

Somatic embryo induction and plant regeneration from cold-stored embryogenic callus of K. septemlobus (저온저장 음나무 배발생 캘러스로부터 체세포배 유도와 식물체 재생)

  • Lee, Na Nyum;Choi, Yong Eui;Moon, Heung Kyu
    • Journal of Plant Biotechnology
    • /
    • v.42 no.4
    • /
    • pp.388-395
    • /
    • 2015
  • Somatic embryogenesis is as an excellent technology for potential use in plant mass production, germplasm conservation, or genetic engineering. We examined the effect of cold storage using 3 embryogenic callus lines with different levels of embryogenesis competence derived from immature zygotic embryo cultures of Kalopanax setemlobus. Somatic embryo induction, germination and plant conversion were evaluated after 1, 3 and 6 months storage at $4^{\circ}C$ in the dark. Most cold-stored embryogenic calli formed somatic embryos normally even after 6 months; however, the induction rate was gradually decreased by increasing the storage period. The most competent line tended to show a slight decline in somatic embryo induction rate, as compared with other lines after cold storage. In general, cold storage resulted in reduced somatic embryo germination and plant regeneration, although 93% somatic embryo germination and 91% plant conversion were achieved regardless of the storage period. Cold storage led to cell browning and degradation. Additionally, the cell structures were confirmed by the aceto-carmine and evans blue dye evaluation. Collectively, our results showed that embryogenic callus of K. septemlobus could be preserved at $4^{\circ}C$ without subculture for 6 months, and suggested the need for storage of relatively more competent embryogenic calli lines to support somatic embryo induction.

Hypertrophic Cardiomyopathy with Aortic Thromboembolism in Two Cats (고양이 비대심장근육병증에 의한 대동맥혈전색전증 2례)

  • Kim, Mi-Eun;Lee, Hye-Yeon;Kim, Jun-Young;Lee, Nam-Soon;Jeon, Jae-Nam;Lee, Young-Heun;Youn, Hwa-Young;Kim, Dae-Yong;Choi, Min-Cheol;Yoon, Jung-Hee
    • Journal of Veterinary Clinics
    • /
    • v.26 no.4
    • /
    • pp.362-366
    • /
    • 2009
  • Hypertrophic cardiomyopathy (HCM) is the most often seen type of cardiomyopathy in cats. The cause is unknown but a genetic basis is thought to underlie some cases. Thromboembolism (TE) is a troubling complication in cats with myocardial disease. Two cats referred to Seoul National University Hospital for Animals with the paralysis of bilateral hindlimbs after vomiting. The cats were depressed and the bilateral hindlimbs were cyanotic, cool and painful. Heart murmur sounds were auscultated in both cases. Through radiographic and echocardiographic evaluation, HCM was diagnosed. TE at the distal aortic trifurcation was also visualized on abdominal ultrasonography. Both cats were expired and HCM and saddle thrombus were confirmed by postmortem examination in one cat.

Evaluation of Novel Constitutive Expression Vectors Equipped with Mined Promoters from Metagenome (메타게놈에서 발굴한 프로모터를 장착한 새로운 항시발현 벡터의 가치평가)

  • Han, Sang-Soo;Kim, Geun-Joong
    • Microbiology and Biotechnology Letters
    • /
    • v.36 no.4
    • /
    • pp.260-267
    • /
    • 2008
  • The choice of expression vector is very important for industrial production of proteins. Therefore, the systematic mining of promoters over a wider range of genetic resource and/or host is required. We previously reported a novel bidirectional reporting system (pBGR) for the isolation of promoters from metagenome and screened useful promoters that functioned constitutively in E. coli under general culture conditions. Among them, three promoter sequences including each upstream region were amplified by PCR and used to construct new expression vectors. To facilitate subcloning, a multi-cloning site was incorporated into the downstream region of the revere primer sequence. At these sites, GFP, esterase and $\beta$-glucosidase were subcloned and analyzed the constitutive expression ability of new promoter in terms of protein solubility and expression level. As a result, these vectors expressed the proteins constitutively to a level of $2{\sim}3%$ of the total cell protein in soluble fraction (>80 %). This study suggested that excavation of metagenomic promoters for construction of expression vector in a certain strain could provide a way for the development of the expression systems.

Evaluation and Application of QUAL2E and QUAL2K Models in Anyang Stream (안양천에서 QUAL2E와 QUAL2K 모델의 적용 및 평가)

  • Jung, Sung-Soo;Kim, Kyung-Sub
    • Journal of Korean Society of Environmental Engineers
    • /
    • v.30 no.5
    • /
    • pp.544-551
    • /
    • 2008
  • QUAL2K enhanced QUAL2E and applied in real fields efficiently incorporates denitrification process, sediment-water interaction process, bottom algae and detritus. Also, the CBOD of QUAL2K is divided into two real parts, one is slow CBOD(sCBOD) and another is fast CBOD(fCBOD). The simulation results of QUAL2E and QUAL2K models in Anyang Stream were compared and analyzed in water quality constituents of DO, BOD, Org-N, NH$_3$-N, NO$_3$-N, Org-P, Dis-P and Chl-a respectively. The similar results were shown in Org-N, NH$_3$-N, Org-P and Chl-a both QUAL2K and QUAL2E models. But the different results were revealed in DO, BOD, Dis-P and NO$_3$-N by the influence of new incorporating processes. DO was shown relatively low values in the effect of bottom algae. BOD which is influenced by particulate organic matter was revealed high values. NO$_3$-N was closed to the real values by the two processes of denitrification and sediment-water interaction. To evaluate the running results of QUAL2K and QUAL2E models, a simple statistical analysis was conducted. According to the statistical analysis, QUAL2K represented less relative error and coefficient of variation than QUAL2E in almost all of constituents. It was found that QUAL2K, which simulates the water quality more realistically, can be applied to control and manage the water problems of river or river-run reservoir effectively.

Evaluation of Pregnancy and Thyroid Function (임신과 갑상선 기능의 평가)

  • Park, Chang-Eun
    • Korean Journal of Clinical Laboratory Science
    • /
    • v.50 no.1
    • /
    • pp.1-10
    • /
    • 2018
  • During early pregnancy, before the development of a functioning thyroid gland, thyroid stimulating hormone (TSH) is a very sensitive marker of thyroid dysfunction during pregnancy. Normal values have been modified during gestation with a downward shift. The fetus is influenced by the TSH supplied by the mother. TSH and free thyroxine (FT4) concentrations vary during pregnancy and conventional units can vary between laboratories. A downward shift of the TSH reference range occurs during pregnancy, with a decrease in both the lower and upper limits of maternal TSH, relative to the typical non-pregnant TSH reference range. Each laboratory produces its own reference TSH and FT4 concentrations because there are many different assays that yield different results in pregnancy. Therefore, automated immunoassays used for serum FT4 analysis are still used widely, but the important considerations discussed above must be noted. The use of population-based, trimester-specific reference ranges remains the best way to handle this issue The slight downward shift in the upper reference range of TSH occurring in the latter first trimester (7~12 weeks) of pregnancy, typically not observed prior to 7 weeks. Their use indicates high or low levels in a quantitative manner independent of the reference ranges. These data highlight the importance of calculating population-based pregnancy-specific thyroid parameter reference intervals. A precision medicine initiative in this area will require the collection and analysis of a large number of genetic, biological, psychosocial, and environmental variables in large cohorts of individuals. Large prospective randomized controlled trials will be needed to resolve these controversies.

Machinability investigation and sustainability assessment in FDHT with coated ceramic tool

  • Panda, Asutosh;Das, Sudhansu Ranjan;Dhupal, Debabrata
    • Steel and Composite Structures
    • /
    • v.34 no.5
    • /
    • pp.681-698
    • /
    • 2020
  • The paper addresses contribution to the modeling and optimization of major machinability parameters (cutting force, surface roughness, and tool wear) in finish dry hard turning (FDHT) for machinability evaluation of hardened AISI grade die steel D3 with PVD-TiN coated (Al2O3-TiCN) mixed ceramic tool insert. The turning trials are performed based on Taguchi's L18 orthogonal array design of experiments for the development of regression model as well as adequate model prediction by considering tool approach angle, nose radius, cutting speed, feed rate, and depth of cut as major machining parameters. The models or correlations are developed by employing multiple regression analysis (MRA). In addition, statistical technique (response surface methodology) followed by computational approaches (genetic algorithm and particle swarm optimization) have been employed for multiple response optimization. Thereafter, the effectiveness of proposed three (RSM, GA, PSO) optimization techniques are evaluated by confirmation test and subsequently the best optimization results have been used for estimation of energy consumption which includes savings of carbon footprint towards green machining and for tool life estimation followed by cost analysis to justify the economic feasibility of PVD-TiN coated Al2O3+TiCN mixed ceramic tool in FDHT operation. Finally, estimation of energy savings, economic analysis, and sustainability assessment are performed by employing carbon footprint analysis, Gilbert approach, and Pugh matrix, respectively. Novelty aspects, the present work: (i) contributes to practical industrial application of finish hard turning for the shaft and die makers to select the optimum cutting conditions in a range of hardness of 45-60 HRC, (ii) demonstrates the replacement of expensive, time-consuming conventional cylindrical grinding process and proposes the alternative of costlier CBN tool by utilizing ceramic tool in hard turning processes considering technological, economical and ecological aspects, which are helpful and efficient from industrial point of view, (iii) provides environment friendliness, cleaner production for machining of hardened steels, (iv) helps to improve the desirable machinability characteristics, and (v) serves as a knowledge for the development of a common language for sustainable manufacturing in both research field and industrial practice.