• Title/Summary/Keyword: genetic evaluation

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A Study on the Relationship between the Present Physical Symptom Distress and Experience of Sanhujori, the Traditional Postpartal Care in Korea - Centered on Women of arthritis - (관절염 여성의 신체적 불편과 산후조리 경험정도와의 관계 연구)

  • Chong, Young-Mi;Yoo, Eun-Kwang
    • Women's Health Nursing
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    • v.5 no.1
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    • pp.111-132
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    • 1999
  • This correlational descriptive study sought to define the relationship between the experience of Sanhujori, Korean tradition non-professional postpartal care after delivery and abortion and present physical symptom distress of arthritis female who visited to outpatient clinic of rheumatic internal medicine at three hospital located in Seoul, Pusan, Chongju, Korea. Data from a convenience sample of 98 women who orally agreed to be respondent were collected from September 1, 1998 to October 31, 1998 for two months by way of interview with semi-structured questionnaire. Data analysis consisted of frequency, percentage, mean, S. D., Pearson Correlation Coefficient, t-test, ANOVA and Scheffe test as a post hoc by SPSS. The results of the study were as follows ; Mean age of participants as 52.8 years and mean number of children 3.3. Mean frequency of child birth was 3.1 times per woman, 67.4% of respondents had menopause, 57.0% did not have Sunhujori after abortion. The health status implies the subjective health status women perceived, which came from the three points of view of the present, comparative with other of same age and changed after delivery. The respondents of 76.1% perceived them as unhealthy and the main sites of physical symptom distress were upper & lower extremities including knee and hand 34.8%, shoulder 26.5%, waist 22.4%. Women perceived the etiology of the arthritis as 'did Sanhujori wrongly' 36.7%, 'aging process' 24.5%, 'stress' 16.3%, 'overwork' 15.3%, 'Immunocompromize' & 'physical constitution' 7.1% respectively, 'character' 3.1%, 'genetic' 2.0%, 'malnutrition' 1.0%. The mean period of Sanhujori after delivery was 20.4 at the first child and 18.1 at the second child. The higher frequency of child birth, the shorter period of Sanhujori. For the subjective evaluation of whether the women did Sanhujori well or not, the rate of 'did Sanhujori well' was the highest rank in the first child and the rate of 'did not particularly Sanhujori well' was the highest rank in the last child. There was a significant positive correlation between physical function disability and rheumatoid arthritis symptom at the level of 1% of significance statistically(r=.406). And a positive correlation between physical function disability and Sanhubyung symptom at the level of 5% of significance statistically(r=.224). There was a significant positive correlation among rheumatoid arthritis symptom, Sanhubyung symptom and menopause symptom at the level of 1%-5% of significance statistically. Most of all, the correlation between Sanhubyung symptom and menopause symptom was the higher than others. There was a negative correlation between the present physical symptom distress and experience of Sanhujori(r=.-130), however it was not significant statistically. However, there was a positive correlation between subjective health status and experience of Sanhujori at the level of 1% of significance statistically(r=.328). In conclusion, this finding reconfirmed the positive relationship between the perceived health status and experience of Sanhujori after delivery among women of arthritis. It provides a challenge to the professional care givers to study further on the effects of Sanhuiori after abortion or delivery on the physical symptom distress from the variouis aspects through the cross-sectional and longitudinal research. The strategy for the development of the appropriate intervention for primary prevention of sequele after childbirth and quality of care for desirable health outcomes for postpartal women with considering deeply on the relationship between women's health and postapartal care.

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Heart Rate Variability and Autonomic Activity in Patients Affected with Rett Syndrome (Rett 증후군 환자에서의 자율신경 활성도 및 심박수 변이도 측정)

  • Choi, Deok Young;Chang, Jin Ha;Chung, Hee Jung
    • Clinical and Experimental Pediatrics
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    • v.46 no.10
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    • pp.996-1002
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    • 2003
  • Purpose : In Rett syndrome patients, the incidence of sudden death is greater than that of the general population, and cardiac electrical instability including fatal cardiac arrhythmia is a main suspected cause. In this study, we are going to find out the possible cause of the higher risk of sudden death in Rett patients by the evaluation of heart rate variability, a marker of cardiac autonomic activity and corrected QT intervals. Methods : Diagnosis of Rett syndrome was made by molecular genetic study of Rett syndrome (MECP2 gene) or clinical diagnostic criteria of Rett syndrome. Heart rate variability and corrected QT intervals were measured by 24 h-Holter study in 12 Rett patients, and in 30 age-matched healthy children with chief complaints of chest pain or suspected heart murmurs. The were compared with the normal age-matched control. Results : Patients with total Rett syndrome, classic Rett syndrome, and Rett variants had significantly lower heart rate variability(especially rMSSD)(P<0.05) and longer corrected QT intervals than age-matched healthy children(P<0.05). Sympathovagal balance expressed by the ratio of high to low frequency(LF/HF ratio) also showed statistically significant differences between the three groups considered(P<0.05). Conclusion : A significant reduction of heart rate variability, a marker of autonomic disarray, suggests a possible explanation of cardiac dysfunction in sudden death associated with Rett syndrome.

Evaluation of the Underlying Etiology and Long-Term Prognostic Factors in Neonatal Cholestasis (신생아 담즙정체증의 원인질환 및 장기추적 예후인자에 관한 고찰)

  • Kim, Kyung-Mo;Seo, Jeong-Kee
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.2 no.1
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    • pp.46-58
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    • 1999
  • Purpose: The aim of the present study was to evaluate the long-term clinical profile including the underlying etioligy and the prognostic factors of the neonatal cholestasis. Method: We studied the 190 infants presented with neonatal cholestasis for the last 12 years (from 1981 to 1992). The underlying causes, clinical findings and long-term outcomes were evaluated. And the prognostic factors were also analyzed. Result: Underlying disease were neonatal hepatitis in 101 (idiopathic in 77 and infectious in 24), intrahepatic bile duct paucity in 5, biliary atresia in 79, choledochal cyst in 5. Metabolic disease was not observed in this study. The important clinical problems during follow-up were persistent high fever, gastrointestinal bleeding, hepatic encephalopathy and ascites. The main causes of the death were hepatic encephalopathy and gastrointestinal bleeding. While three fourth of infants with idiopathic and infectious neonatal hepatitis recovered usually within a year, five-year survival rate for biliary atresia was just 40%, the mortality observed usually within the first year after Kasai operation and prognostic factor was the time of operation. Underlying disease was the most important prognostic factor of neonatal cholestasis. Conclusion: This study showed that most common causes of neonatal cholestasis were biliary atresia and idiopathic neonatal hepatitis, infectious neonatal hepatitis, choledochal cyst and Alagille syndrome, but few neonatal cholestasis of genetic or metabolic liver disease was observed. The most important long-term prognostic factor of neonatal cholestasis was the underlying disease.

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Evaluation of Pea (Pisum sativum L.) Genetic Resources for Sprout and Analysis of Optimum Culture Condition for Pea Sprout (완두나물 재배에 적합한 유용자원 선발과 완두나물 적정 재배조건 설정)

  • Koo, Sung-Cheol;Kang, Beom-Kyu;Kim, Hyun-Tae;Seo, Jeong-Hyun;Jeong, Kwang-Ho;Yun, Hong-Tae;Oh, In-Seok;Choi, Man-Soo
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.60 no.4
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    • pp.484-490
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    • 2015
  • Thirty-eight Pea (Pisum sativum L.) genotypes were screened to identify varieties to be suitable for sprout. Based on seed yield and sprout qualities such as whole length and sprout yield, five genotypes (PI269803, PI343278, PI343283, PI343300 and PI 343307) were primarily selected as candidates for pea sprouts. In order to determine optimal cultivation condition for pea sprouting, growth characteristics were investigated according to the change of germination temperature and days for sprouting. Whole length and hypocotyl length were observed to increase as a time dependent manner at each tested temperature (20, 23, and $25^{\circ}C$). However, whole length, hypocotyl length, and sprout yield were highly increased at $23^{\circ}C$ compared to 20 and $25^{\circ}C$. Especially, PI269803 and PI343300 showed higher sprout yield than the others. In addition, the effect of the change of germination temperature on antioxidant properties was estimated by measuring total phenolic content (TPC) and free radical scavenging activity (DPPH and ABST activity). TPC and DPPH/ABST activities of PI269803 and PI343300 were higher at $23^{\circ}C$ than at 20 and $25^{\circ}C$, while antioxidant properties of PI343278 and PI343283 were decreased in a temperature-dependent manner. The results show a high degree of correlation between TPC and antioxidant activities and suggest that the temperature change for pea sprouting could be responsible for antioxidant properties. Taken together, these results provide optimal cultivation conditions for pea sprouting and suggest that PI269803 and PI343300 with high sprout yield and antioxidant properties could be used for pea sprouts.

Studies on the Quality and Palatability of Imported Hay and Straw (수입건초의 품질 및 기호성에 관한 연구)

  • Han, Sang-Cheul;Lee, In-Duk;Lee, Hyung-Suk
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.29 no.1
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    • pp.73-82
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    • 2009
  • The experiment was carried out from January through December in 2008 at Chungnam National University and the Unbong Animal Genetic Resources Station, NIAS. The experimental animals were twelve dairy goats (female, $30{\pm}1.8kg$), twelve Korean native Boats(female, $24{\pm}2.4kg$) and five sika deer(female, $92{\pm}5.2kg$). A total of 11 different types of hay and straw were tested in this study: such straw imported from USA in 2006 as annual ryegrass, perennial ryegrass, tall fescue and Kentucky bluegrass, and such hay imported from USA in 2007 as alfatfa, bermudagrass, timothy, kleingrass, oat and orchardgrass, and such domestic hay as mixed hay There were significant differences in chemical composition and in vitro dry matter digestibility (IVDMD) among the various types of imported hay and straw (p<0.05). Besides alfalfa hay and orchardpass hay all of the imported hay contained lower crude protein (CP) and IVDMD but contained higher neutral detergent fiber(NDF) and acid detergent fiber (ADF) than the domestic hay. According to the kinds of the imported hay, relative feed value (RFV) made the difference and the hay grades were ranged from 4 to 5, based on the RFV. According to the kinds of the imported hay, there were markedly differences in dry matte. (DM) intake and palatability ranking among dairy goats, Korean native goats, and sika deer. DM intake and palatability ranking were high in common between orchardgrass hay and bermudagrass hay, but Kentucky bluegrass straw, tall fescue straw, perennial ryegrass straw and annual ryegrass straw were proved to be very low in DM intake and palatability ranking. In conclusion, the quality and palatability among the imported hay that was tested in the study were quite variable and lower than expected. It is required to establish a better feed evaluation system for the imported hay.

Effects of Raising Farm on Genetic Evaluation for Carcass Traits in Hanwoo Cows (사육농가의 효과가 한우 암소의 도체형질 유전 평가에 미치는 영향)

  • Lee, Chang-Woo;Lee, Cheong-Mook;Lee, Sung-Jin;Song, Young-Han;Lee, Jeong-Koo;Kim, Jong-Bok
    • Journal of Animal Science and Technology
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    • v.53 no.4
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    • pp.325-332
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    • 2011
  • This research was conducted to analyze the effects of raising farm on the heritability and breeding values of Hanwoo cows for their carcass traits, including cold carcass weight (CWT), back-fat thickness (BFT), eye-muscle area (EMA) and marbling score (MAR). The carcass data and pedigree data were collected from steers raised on Hanwoo farms in Pyeongchang-gun, Gangwon-do, South Korea. Three analytical models were applied for the estimation of heritabilities and breeding values. The first model (model 1) included slaughter house-year-month combination as fixed effects and age at slaughter was fitted as linear and quadratic covariates. The second model (model 2) was similar to model 1, but raising farm was additionally included as random effect. The third model (model 3) was similar to model 1 but farm effects were additionally included as fixed effect. The comparisons between the model 1 and the models including farm effect (model 2 and model 3) revealed that heritability estimates from model 2 or model 3 were smaller to those from model 1 for all carcass traits. Especially, obvious decrease of heritability was observed in CWT where heritability was 0.23 from model 1, 0.15 from model 2 and 0.18 from model 3. The maximum log likelihood of the model 2 and 3 were higher than those of model 1 for all traits. In model 2 that raising farm was included as a random effect, the ratio of farm variance to the total phenotypic variance were ranged from 4% (EMA) to 18% (CWT). Top 10% and bottom 10% of female cows were selected based on the breeding values from model 1, and the Spearman's rank correlation coefficients among models were estimated for each trait within selected group. The correlation coefficients were ranged from 0.57 to 0.95 in top 10% group and from 0.68 to 0.95 in bottom 10% group. These results show that the discrepancies in the rankings of breeding values can be based on the models applied. In conclusion, the results obtained in this study suggest that the herd effect or farm effect should be included in the analytical model when breeding values are estimated with the purpose of improvement of carcass traits of Hanwoo breeding cows.

Effects of Milk Production, Postparient Days or Seasons on In Vivo Embryo Production by Superovulation in Holstein Cows (유우의 과배란 처리에 있어서 산유량, 분만 후 처리시기 및 계절이 체내수정란 생산에 미치는 영향)

  • Lim, Kwang-Taek
    • Journal of Embryo Transfer
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    • v.24 no.1
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    • pp.33-37
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    • 2009
  • Multiple ovulation and embryo transfer (MOET) has the potential to increase the rates of genetic improvement in cattle. Thus this study was performed to investigate several factors influencing in vivo embryo production in Holstein cattle under field conditions. The donors were superovulated with Folltropin-V and $PGF_2{\alpha}$ combination method. From Day 10 onward, donors were superovulated by i.m., twice daily, administration of 400mg Folltropin-V given in a series of decreasing doses over a 4-day period: on the first day, 3.5ml; on the second day, 3.0ml; on the third day, 2.0ml; and on the fourth day, 1.5ml (20ml in total, equivalent to 400mg of NIH-FSH-P1). Estrus was induced by i.m. administration of 25mg prostaglandin $F_2{\alpha}$ on the sixth and seventh of FSH treatment. Estrus detection was performed twice daily beginning 24h after the first prostaglandin $F_2{\alpha}$ injection. Donor cows were artificially inseminated 12 and 24 h after first standing estrus with semen from a proven Holstein sire. Embryos used in this study were recovered Day 7.5 of the cycle (Day 0: first standing estrus). From 195 superovulated dairy cows, 2,104 eggs were recovered, of which 1,172 were classified as transferable embryos based on morphological evaluation of quality. The results are summarized as follows: 1. The numbers of recovered and transferable embryos did not significantly differ among the capacity of milk production that were < 10,000kg/305days (group 1), $10,000{\sim}12,000\;kg$/305days (group 2) or > 12,000kg/305 days (group 3) (p>0.05, Table 1). 2. No differences in the numbers of recovered and transferable embryos were found among the donor's postparient days (p>0.05, Table 2). 3. Also, the numbers of recovered and transferable embryos of each superovulation seasons did not significantly differ among the four groups (p>0.05, Table 3).

Primer Evaluation for the Detection of Toxigenic Microcystis by PCR (독소 생성 Microcystis 검출을 위한 PCR primer의 평가)

  • 이현경;김준호;유순애;안태석;김치경;이동훈
    • Korean Journal of Microbiology
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    • v.39 no.3
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    • pp.166-174
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    • 2003
  • Microcystin produced by cyanobacteria in surface waters, such as eutrophic lake and river, is a kind of serious environmental problems due to its toxicity to human and wild animals. Microcystin is synthesized nonribosomally by the large modular multi-functional enzyme complex known as microcystin synthetase encoded by the mcy gene cluster. Amplification of mcy genes by PCR from cultures and environmental samples is a simple and efficient method to detect the toxigenic Microcystis. In order to evaluate primers designed to detect toxic microcystin-producing strains, 17 cyanobacterial strains and 20 environmental samples were examined by PCR with 7 pairs of primers. Some microcystin-producing cyanobacteria were not detected with FAA-RAA, TOX4F-TOX4R and FP-RP primers. The fragment of unexpected size was amplified with NSZW2-NSZW1 primers in Microcystis strains isolated from the lakes in Korea. TOX1P-TOX1F primers failed in amplification of toxin-producing strains. Only MSF-MSR and TOX2P- TOX2F primers amplified the fragments of mcy genes from 11 strains of microcystin-producing Microcystis. The water samples taken from 20 lakes in Korea were analyzed by PCR using each of the primers. In all the water samples, cyanobacteria capable of producing microcystin were detected by the PCR with TOX2P-TOX2F primers. These results indicate that TOX2P-TOX2F primers are better than the other primers for detection of microcystin-producing Microcystis strains in Korea. The nucleotide sequences of mcy gene in Microcystis aeruginosa NIER10010 suggest genetic diversity of Korean isolates.

Correlation Analyses on Growth Traits, Body Size Traits and Carcass Traits in Hanwoo Steers (한우 후대검정우 체중, 체척 및 도체형질간 상관분석)

  • Lee, Jae-Gu;Choy, Yun-Ho;Park, Byung-Ho;Choi, Jae-Kwan;Lee, Seung-Su;Na, Jong-Sam;Roh, Seung-Hee;Choi, Tae-Jeong
    • Journal of agriculture & life science
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    • v.46 no.1
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    • pp.123-131
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    • 2012
  • This study was conducted to estimate correlation structure between Hanwoo steer growth traits - body weights at 6 month, 12 month, 18 month and 24 month of age, average daily gain, carcass traits, body size traits at 18 months of age. Hanwoo progeny test data(body weight, body size traits) collected from 2004 to 2008 on a total of 1,838 steers at Hanwoo Improvement Main Center(NACF) were analyzed. Carcass traits were used to score the 24 months of age and slaughter. Correlation analyses were performed with observed scales of the traits and with residuals considering fixed effects in generalized linear models. The correlated coefficient estimated between live weight at slaughter(24 months of age) and cold carcass weight was high at 0.92. Correlation between beef yield index values and backfat thickness was estimated to be high and negative at -0.92. Hip height and wither height was found to be highly correlated(0.89). Chest width and chest depth also was found to be highly correlated at 0.73. Rump width was highly correlated with chest depth(0.75) and chest width(0.74). Correlation between pelvic width and rump width was estimated to be 0.74. Hipbone width was shown to be highly correlated with chest depth(0.73), chest width(0.70), rump width(0.75), or pelvic width(0.75). Correlation between wither height and carcass weight was 0.48 in observed scale. Chest girth was phenotyically (residual correlation) correlated with carcass weight (0.51), the estimates of which were some higher than than with the other carcass traits. This study will be utilized for Hanwoo Steers genetic evaluation.

A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • 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.

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