• Title/Summary/Keyword: Genetic evaluation

Search Result 886, Processing Time 0.028 seconds

Epilepsy Surgery in 2019 : A Time to Change

  • Phi, Ji Hoon;Cho, Byung-Kyu
    • Journal of Korean Neurosurgical Society
    • /
    • v.62 no.3
    • /
    • pp.361-365
    • /
    • 2019
  • Epilepsy has been known to humankind since antiquity. The surgical treatment of epilepsy began in the early days of neurosurgery and has developed greatly. Many surgical procedures have stood the test of time. However, clinicians treating epilepsy patients are now witnessing a huge tide of change. In 2017, the classification system for seizure and epilepsy types was revised nearly 36 years after the previous scheme was released. The actual difference between these systems may not be large, but there have been many conceptual changes, and clinicians must bid farewell to old terminology. Paradigms in drug discovery are changing, and novel anti-seizure drugs have been introduced for clinical use. In particular, drugs that target genetic changes harbor greater therapeutic potential than previous screening-based compounds. The concept of focal epilepsy has been challenged, and now epilepsy is regarded as a network disorder. With this novel concept, stereotactic electroencephalography (SEEG) is becoming increasingly popular for the evaluation of dysfunctioning neuronal networks. Minimally invasive ablative therapies using SEEG electrodes and neuromodulatory therapies such as deep brain stimulation and vagus nerve stimulation are widely applied to remedy dysfunctional epilepsy networks. The use of responsive neurostimulation is currently off-label in children with intractable epilepsy.

A Novel Homozygous CLCNKB Mutation of Classic Bartter Syndrome Presenting with Renal Cysts in 6-year-Old Identical Twin Boys : A Case Report

  • Son, Min Hwa;Yim, Hyung Eun;Yoo, Kee Hwan
    • Childhood Kidney Diseases
    • /
    • v.25 no.1
    • /
    • pp.35-39
    • /
    • 2021
  • Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene. While chronic hypokalemia is known to induce renal cyst formation in different renal diseases, renal cyst formation in Bartter syndrome is rarely reported. Russian six-year-old identical male twins were referred to our hospital for the evaluation of renal cysts, which were incidentally detected on abdominal sonography due to diarrhea. Both twins had shown symptoms of polydipsia, polyuria, and nocturia since they were one year olds. Vital signs including blood pressure were normal in both twins. Renal sonography revealed nephromegaly, increased echogenicity of renal cortex, and various sized multiple cysts in both kidneys for both twins. Laboratory findings included hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis. Bartter syndrome with renal cysts were suspected. Genetic analysis for both twins confirmed a homozygous c.1614delC deletion on exon 15 of the CLCNKB gene, which was confirmed as a previously unreported variant to the best of our knowledge. They were managed with potassium chloride, nonsteroidal anti-inflammatory drugs, and angiotensin-converting-enzyme inhibitors. Metabolic alkalosis, hypokalemia, hypochloremia, and polyuria partially improved during the short course of treatment. This is the first report of a homozygous mutation in the CLCNKB gene in an identical twin, presenting with renal cysts.

An Extended Work Architecture for Online Threat Prediction in Tweeter Dataset

  • Sheoran, Savita Kumari;Yadav, Partibha
    • International Journal of Computer Science & Network Security
    • /
    • v.21 no.1
    • /
    • pp.97-106
    • /
    • 2021
  • Social networking platforms have become a smart way for people to interact and meet on internet. It provides a way to keep in touch with friends, families, colleagues, business partners, and many more. Among the various social networking sites, Twitter is one of the fastest-growing sites where users can read the news, share ideas, discuss issues etc. Due to its vast popularity, the accounts of legitimate users are vulnerable to the large number of threats. Spam and Malware are some of the most affecting threats found on Twitter. Therefore, in order to enjoy seamless services it is required to secure Twitter against malicious users by fixing them in advance. Various researches have used many Machine Learning (ML) based approaches to detect spammers on Twitter. This research aims to devise a secure system based on Hybrid Similarity Cosine and Soft Cosine measured in combination with Genetic Algorithm (GA) and Artificial Neural Network (ANN) to secure Twitter network against spammers. The similarity among tweets is determined using Cosine with Soft Cosine which has been applied on the Twitter dataset. GA has been utilized to enhance training with minimum training error by selecting the best suitable features according to the designed fitness function. The tweets have been classified as spammer and non-spammer based on ANN structure along with the voting rule. The True Positive Rate (TPR), False Positive Rate (FPR) and Classification Accuracy are considered as the evaluation parameter to evaluate the performance of system designed in this research. The simulation results reveals that our proposed model outperform the existing state-of-arts.

Conditions for Reintroduction of Captive-Bred Endangered Birds: A Review

  • Kim, Sooil;Park, Heonwoo;Cheong, Seokwan
    • Proceedings of the National Institute of Ecology of the Republic of Korea
    • /
    • v.3 no.3
    • /
    • pp.129-138
    • /
    • 2022
  • Reintroduction programs have been promoted across the world to recover and rehabilitate endangered birds through ex situ captive breeding and releasing to the nature. The ultimate aims of these reintroduction programs are recovery of sustainable populations in natural habitats. To ensure the success of the reintroduction programs, it is necessary to examine the followings in order to increase the success rate of releasing along with the development of captive breeding techniques: 1) Adequate habitat provision, 2) adaptability of captive-bred individuals, 3) survivability of released individuals, and 4) social interest and will. Before releasing captive-bred individuals, it should be reviewed whether there are habitats in which the limiting factor is removed, and assessed their long-term safety. The quantity and quality of the released individuals must be considered to increase the chances for mate selection, maintain genetic diversity, and acquire the ability to adapt to the wild. The release method must be decided in consideration of characteristics of the target habitats and individuals, and rational means such as careful observation, evaluation, and feedback must be provided throughout the release process. For the long-term success of recovery projects, social awareness, sustainable support, and related experts are needed. Satisfying these criteria can help to increase the success rates of reintroduction programs. For the bird reintroduction program in the future, the feasibility of the methods and procedures must be closely reviewed before starting.

Year Variations of Genetic Parameters Estimated on Maturity and Yield Characteristics (소맥의 숙기 및 수량관련형질에 대한 유전통계율의 년차간 변동)

  • Cho, C.H.;Sung, B.Y.;Ahn, W.S.
    • KOREAN JOURNAL OF CROP SCIENCE
    • /
    • v.25 no.3
    • /
    • pp.15-20
    • /
    • 1980
  • Heritability of heading date, maturing date and culm length were high and the year variation was relatively low. Yield components were considerably low in heritability due to large year variation. Direct effects of number of spikes/$m^2$ and 1, 000 grain weight to yield were high. For improved selection efficiency, at least three years continuous evaluation of experiments would be desired.

  • PDF

Analyzing effect and importance of input predictors for urban streamflow prediction based on a Bayesian tree-based model

  • Nguyen, Duc Hai;Bae, Deg-Hyo
    • Proceedings of the Korea Water Resources Association Conference
    • /
    • 2022.05a
    • /
    • pp.134-134
    • /
    • 2022
  • Streamflow forecasting plays a crucial role in water resource control, especially in highly urbanized areas that are very vulnerable to flooding during heavy rainfall event. In addition to providing the accurate prediction, the evaluation of effects and importance of the input predictors can contribute to water manager. Recently, machine learning techniques have applied their advantages for modeling complex and nonlinear hydrological processes. However, the techniques have not considered properly the importance and uncertainty of the predictor variables. To address these concerns, we applied the GA-BART, that integrates a genetic algorithm (GA) with the Bayesian additive regression tree (BART) model for hourly streamflow forecasting and analyzing input predictors. The Jungrang urban basin was selected as a case study and a database was established based on 39 heavy rainfall events during 2003 and 2020 from the rain gauges and monitoring stations. For the goal of this study, we used a combination of inputs that included the areal rainfall of the subbasins at current time step and previous time steps and water level and streamflow of the stations at time step for multistep-ahead streamflow predictions. An analysis of multiple datasets including different input predictors was performed to define the optimal set for streamflow forecasting. In addition, the GA-BART model could reasonably determine the relative importance of the input variables. The assessment might help water resource managers improve the accuracy of forecasts and early flood warnings in the basin.

  • PDF

Development of Wheat Breeding Material Mediated wide Hybridization Response to Climate Change

  • Seong-Wook Kang;Ji-Yoon Han;Seong-Woo Cho
    • Proceedings of the Korean Society of Crop Science Conference
    • /
    • 2022.10a
    • /
    • pp.293-293
    • /
    • 2022
  • This study is to develop new wheat breeding material through wide hybridization with wild species harboring useful characteristics such as salt, heat, and drought tolerance. Leymus mollis, wild rye was used to improve wheat genetic quality. L. mollis, is a perennial plant harboring tolerance against salt, heat, and drought because L. mollis distributes on the seaside. The F1 hybrids were produced by crossing between common wheat (Triticum aestivum L., Chinese Spring) and L. mollis. Genomic in situ hybridization revealed that the F1 hybrids have L. mollis genome. For the evaluation of salt and drought tolerance, seeds from the F2 were used. Under 2% NaCl solution, the F3 wheat-Leymus addition plants with salt tolerance showed more tillering and longer roots than other F3 plants without salt tolerance. Also, the F3 plants with salt tolerance showed better shallow-rooted than other F3 plants without salt tolerance. Finally, the F3 plants with salt tolerance made seed-setting under 2% NaCl condition, but other F3 plants without salt tolerance were not. Under drought conditions, the F3 plants with drought tolerance showed longer culm and spike length than other F3 plants without drought tolerance and even those of Chinese Spring under well-water conditions. We evaluated and selected the F3 plants with salt or drought tolerance for generation advancement.

  • PDF

Genetic Aspects of the Growth Curve Parameters in Hanwoo Cows (한우 암소의 성장곡선 모수에 대한 유전적 경향)

  • Lee, Chang-U;Choe, Jae-Gwan;Jeon, Gi-Jun;Kim, Hyeong-Cheol
    • Journal of Animal Science and Technology
    • /
    • v.48 no.1
    • /
    • pp.29-38
    • /
    • 2006
  • The objective of this study was to estimate genetic variances of growth curve parameters in Hanwoo cows. The data used in this study were records from 1,083 Hanwoo cows raised at Hanwoo Experiment Station, National Livestock Research Institute(NLRI). First evaluation model(Model I) fit year-season of birth and age of dam as fixed effects and second model(Model II) added age at the final weight as a linear covariate to Model I. Heritability estimates of A, b and k from Gompertz model were 0.22, 0.11 and 0.07 using modelⅠ and 0.28, 0.11 and 0.12 using modelⅡ. Those from Von Bertalanffy model were 0.22, 0.11 and 0.07 using modelⅠ, 0.28, 0.11 and 0.12 using modelⅡ. Heritability estimates of A, b and k from Logistic model were 0.14, 0.07 and 0.05 using modelⅠ, 0.18, 0.07 and 0.12 using modelⅡ. Heritability estimates of A from Gompertz model were higher than those from Von Bertalanffy model or Logistic model in both model Ⅰand model Ⅱ. Heritability estimates of b from Logistic model were higher than those from Gompertz model or Von Bertalanffy model in both modelⅠand model Ⅱ. Heritability estimates of birth weight, weaning weight, 3 month weight, 6 month weight, 9 month weight, 12 month weight, 18 month weight, 24 month weight, 36 month weight were after linear age adjustment 0.27, 0.11, 0.19, 0.14, 0.16, 0.23, 0.52 and 0.32, respectively. Heritability estimates of birth weight, weaning weight, 3 month weight, 6 month weight, 9 month weight and 24 month weight fit by Gompertz model were larger than those estimated from linearly adjusted data. Heritability estimates of 12 month weight, 18 month weight and 36 month weight fit by Von Bertalanffy model were larger than those estimated from linearly adjusted data. In the multitrait analyses for parameters from Gompertz model, genetic and phenotypic correlations between A and k parameters were -0.47 and -0.67 using modelⅠand -0.56 and -0.63 using model Ⅱ. Those between the A and b parameters were 0.69 and 0.34 using modelⅠand 0.72 and 0.37 using model Ⅱ. Those between the b and k parameters were -0.26 and 0.01 using modelⅠand -0.30 and 0.01 using model Ⅱ. In the multitrait analyses for parameters from Von Bertalanffy model, genetic and phenotypic correlations between A and k parameters were -0.49 and -0.67 suing model Ⅰ and -0.57 and -0.70 using modelⅡ. Those between the A and b parameters were 0.61 and 0.33 using modelⅠ and 0.60 and 0.30 using model Ⅱ. Those between the b and k parameters were -0.20 and 0.02 using modelⅠ and 0.16 and 0.00 using modelⅡ. In the multitrait analyses for parameters from Logistic model, genetic and phenotypic correlations between A and k parameters were -0.43 and -0.67 using model Ⅰ and -0.50 and -0.63 using modelⅡ. Those between the A and b parameters were 0.47 and 0.22 using modelⅠ and 0.38 and 0.24 using modelⅡ. Those between the b and k parameters were -0.09 and 0.02 using model Ⅰ and -0.02 and 0.13 using model Ⅱ.

Genetic Effects of Molecular Markers Related to Carcass Traits in Hanwoo Cattle (한우 도체형질 관련 분자표지의 유전적 효과)

  • Shin, Sung-Chul;Chung, Eui-Ryong
    • Journal of Life Science
    • /
    • v.30 no.3
    • /
    • pp.230-238
    • /
    • 2020
  • Carcass traits are the most economically important traits in Hanwoo (Korean cattle). Recently, the development of the field of genomics has made it possible to identify DNA markers for the genetic evaluation of carcass and meat quality traits in beef cattle. The objective of this study was to assess the genetic effects of single nucleotide polymorphism (SNP) markers related to carcass traits by field evaluations in a commercial Hanwoo population. We evaluated 15 SNP markers (TG g.371T>C, APM1 g.1454G>A, FABP4 g.2834C>G, FABP4 g.3533T>A, FABP4 g.3691G>A, SCD g.10153A>G, SCD g.10329T >C, CPE g.601T>C, EDG1 g.166A>G, NPY g.4271T>C, GPD1 g.2766C>T, PDE1B g.17122A>G, PDE1B g.17507A>C, TNNT1 g.6650C>T, and RORC g.20152A>G) related to carcass traits in Hanwoo. Genotyping of these SNP markers was performed using PCR-RFLP analysis in Hanwoo steers (n = 1,536) to evaluate their association with carcass traits. Seven SNPs, APM1 g.1454G>, FABP4 g.3691G>A, SCD g.10153A>G, CPE g.601T>C, PDE1B g.17122A>G, TNNT1 g.6650C>T, and RORC g.20152A>G, were significantly associated with carcass traits such as marbling score (MS), backfat thickness (BF), musculus longissimus dorsi area (LDA), carcass weight (CW), meat grade (MG), meat color (MC), and maturity score (MA). The results suggest that these SNPs may be used as DNA markers for the selection of Hanwoo with higher meat quality.

Evaluation of Psychosocial Impact and Quality of Life in BRCA Mutation Family (BRCA 돌연변이 가계의 심리상태 및 삶의 질 평가)

  • Han, Sang-Ah;Kim, Sai-Rhee;Kang, Eun-Young;Kim, Jeong-Hyun;Ha, Tae-Hyeon;Yang, Eun-Joo;Lim, Jae-Young;Han, Won-Shik;Noh, Dong-Young;Kim, Sung-Won
    • Journal of Genetic Medicine
    • /
    • v.7 no.1
    • /
    • pp.67-77
    • /
    • 2010
  • Purpose: The aims of this study are to evaluate psychological impact and quality of life according to the cancer diagnosis and mutation status in Korean families with BRCA mutations. Materials and Methods: Seventeen affected carriers (AC), 16 unaffected carriers (UC) and 13 healthy non carriers (NC) from 13 BRCA mutation families were included in the study. Outcomes were compared with regard to depression (Beck Depression Inventory), anxiety (State-Trait Anxiety Inventory, STAI), optimism (Reevaluation of the Life Orientation test, LOT-R), knowledge of hereditary ovarian cancer, and quality of life (QoL) (SF-36v2 Health Survey, physical component score [PCS], mental component score [MCS]) among three groups. Result: Level of depression, optimism, and PCS were similar in AC, UC, and NC. Anxiety score was elevated in all three groups. MCS was significantly low in AC than in UC and NC (P=0.009, P=0.017). Knowledge of hereditary breast and ovarian cancer was high in AC than NC (P=0.001). MCS was significantly related to whether patient was affected by cancer (P=0.043) and has occupation (P=0.008) or not in multivariable analysis. Conclusion: From this cross sectional study, psychological adverse effect was not related to the carrier status of BRCA mutation. Elevated anxiety in BRCA family members was observed but, independent to affection and the type of genetic mutation. AC showed low mental QoL. Further effort to understand psychological impact and QoL of genetic testing in BRCA family members is required for follow-up in clinical aspects.