• Title/Summary/Keyword: 염색체

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Clinical Features of Cricopharyngeal Incoordination in Newborns and Infants (신생아 및 영아기 윤상인두 협조불능의 임상적 고찰)

  • Han, Young-Mi;Park, Jae-Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.11 no.2
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    • pp.116-121
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    • 2008
  • Purpose: Cricopharyngeal incoordination is a rare cause of swallowing difficulties in newborns and infants; it is characterized by delayed pharyngeal contractions related to cricopharyngeal relaxation. Dysphagia and repeated aspiration are common findings despite normal sucking. We conducted this study to assess the clinical features of cricopharyngeal incoordination in newborns and infants. Methods: An analysis of the clinical data from 17 patients with cricopharyngeal incoordination who were admitted to the Department of Pediatrics, Pusan National University Hospital, between 2000 and 2006 was conducted retrospectively. The diagnosis of cricopharyngeal incoordination was established by the clinical characteristics and the videofluoroscopic swallowing studies. Results: The male to female ratio was 1:1.1 (males 8, females 9) the age range 1 to 60 days. The body weight of 11 patients (64.7%) was less than the $10^{th}$ percentile at diagnosis. Six patients (35.3%) were born prematurely. The associated anomalies or diseases were chromosomal anomaly (2 cases), congenital heart disease (3 cases), and laryngomalacia, hypoxic brain damage or neonatal seizures (1 case each). The chief complaints of patients were recurrent aspiration pneumonia (10 cases), feeding difficulty (9 cases), dyspnea (4 cases), and chocking (4 cases). The severity of aspiration on the videoesophagogram or esophagogram was mild in 12 cases. The correlation between the severity of aspiration and the duration of tube feeding after the diagnosis was significant (p<0.05). Conclusion: Cricopharyngeal incoordination should be considered in the differential diagnosis of newborns and infants, without known risk factors associated with swallowing dysfunction, when they present with unexplained respiratory problems. Although the prognosis of cricopharyngeal incoordination is good, early diagnosis and tube feeding are recommended to prevent the complications associated with this disorder.

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Radiation Effect of X-Ray and Thermal Neutron on Robinia pseudoacacia L. and Some Other Species (아까시나무외 몇 수종(樹種)에 대(對)한 X-Ray와 Thermal Neutron의 조사효과(照射効果))

  • Kim, Chung Suk;Lee, Suk Koo;Hyun, Sin Kyu
    • Journal of Korean Society of Forest Science
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    • v.17 no.1
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    • pp.1-15
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    • 1973
  • In an effort to improve the major tree species in Korea, the seed of Robinia pseudoacacia, Pinus rigida, Pinus densiflora, Pinus thunbergii and Larix leptolepis were treated with X-ray and thermal neutron at the Brookhaven National Laboratory, and germination rate of the seed and some characteristics of the seedlings from irradiated seed were investigated and the results were summarized as follows. 1. The germination rate of the irradiated seed of Robinia pseudoacacia, Pinus densiflora, Pinus thunbergii and Pinus rigida was decreased, when the irradiation time of thermal neutron increased from 3 hours to 9 hours. The seed of Larix leptolepis was completely died out in all range of irradiation time. 2. The seed of Pinus densiflora, Robinia pseudoacacia and Pinus rigida showed low germination rate, when the dosage of radiation increased in the range of 10,000r-30,000r X-ray. This dosage of radiation was almost lethal to the seed of Pinus thunbergii and Larix leptolepis. 3. The growth rate of radiated Robinia pseudoacacia has been decreased when the dosage of X-ray and thermal neutron increased. However, the trees treated with thermal neutron for 3 hours showed 14.9 percent-increase in seedling height and some thornless individuals appeared in this treatment. 4. Individuals with variegated leaf, rugose leaf and albino were appeared in X-ray and thermal neutron treatment. 5. Abnormal mitosis of somatic cell, cell with two nucleoli, cell with two nuclei and chromosome clump in mitosis of somatic cell were observed in Robinia pseudoacacia irradiated with thermal neutron. 6. Resistanty against pawdery mildew was decreased in Robinia pseudoacacia radiated with X-ray and thermal neutron. 7. Length of stomata did not show any difference however number of stomata per unit area decreased in Robinia pseudoacacia radiated with thermal neutron. The leaves of Robinia pseudoacacia radiated with thermal neutron were thicker than those of non-treated one, but width of palisade tissue was decreased. The most sensitive one among those species to the thermal neutron treatment was Larix leptolepis, followed by Pinus densiflora, Robinia pseudoacacia, Pinus thunbergii and Pinus rigida in the order. In X-ray treatment, the most sensitive one was Larix leptolepis, followed by Pinus densiflora, Pinus thunbergii, Pinus rigida and Robinia pseudoacacia in the order. Morphological, cytological variation of the radiated Robinia pseudoacacia seemed to indicate some possibility to be used for tree improvement.

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Sequencing analysis of the OFC1 gene on the nonsyndromic cleft lip and palate patient in Korean (한국인 비증후군성 구순구개열 환자의 OFC1 유전자의 서열 분석)

  • Kim, Sung-Sik;Son, Woo-Sung
    • The korean journal of orthodontics
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    • v.33 no.3 s.98
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    • pp.185-197
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    • 2003
  • This study was performed to identify the characteristics of the OFC1 gene (locus: chromosome 6p24.3) in Korean patients, which is assumed to be the major gene behind the nonsyndromic cleft lip and palate. The sample consisted of 80 subjects: 40 nonsyndromic cleft lip and palate patients (proband, 20 males and females, mean age 14.2 years); and 40 normal adults (20 males and 20 females, mean age 25.6 years). Using PCR-based assay, the OFC1 gene was amplified, sequenced, and then searched for similar protein structures. Results were as follows: 1. The OFC1 gene contains the microsatellite marker 'CA' repeats. The number of the reference 'CA' repeats was 21 times, and formed as TA(CA)11TA(CA)10. But, in Koreans, the number of tandem 'CA' repeats was varied from 17 to 26 except 18, and 'CA' repeats consisted of TA(CA)n. 2. Nine allelic variants were found. Distribution of the OFC1 allele was similar between the patients and control group. 3. There was a replacement of the base 'T' to 'C' after 11 tandem 'CA' repeats in Koreans compared with Weissenbach's report. However, the difference did not seem to be the ORF prediction results between Koreans and Weissenbach's report. 4. The BLAST search results showed the Telomerase reverse transcriptase (TERT) and the Nucleotide binding protein 2 (NBP2) as similar proteins. The TERT was a protein product by the hTERT gene in the locus 5p15.33 (NCBI Genome Annotation; NT023089) The NBP2 was a protein product by the ABCC3 (ATP-binding cassette, sub-family C) gene in the locus 17q22 (NCBI Genome Annotation; NT010783). 5. In the Pedant-Pro database analysis, the predictable protein structure of the OFC1 gene had at least one transmembrane region and one non-globular region.

Association with Kinetic Characteristics of sperm in Duroc Boar and the Zygote Arrest 1 gene Polymorphism (g.2540T>C) (Zygote arrest 1 유전자 변이(g.2540T>C)와 두록 정액의 운동학적 특성과의 연관성 분석)

  • Lee, Mi Jin;Ko, Jun Ho;Cho, Kyu Ho;Choi, Tae Jeong;Kim, Yong Min;Kim, Young Sin;Jin, Dong Il;Cho, Eun seok;Kim, Nam Hyung
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.19 no.9
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    • pp.116-123
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    • 2018
  • The sperm quality is determined by the kinetic characteristics and acrosome integrity of the sperm. In the previous studies, analysis of semen quality had large errors because those experiments by using microscope had been conducted by people. In recent years, the molecular biological methods have been newly developed to complement the previous techniques. The ZAR1 gene is known to be a gene that affects early embryonic development in vertebrates, but there is no study of the association with semen. In this study, we analyzed the association between the kinetic characteristics and ZAR1 single nucleotide polymorphism (SNP) genotype. To detect the SNPs, we performed sequencing using genomic DNA from the whole bloods of Duroc pigs. We identified an SNP in the ZAR1 gene g.2540T>C. ZAR1 SNP genotypeing in 105 pigs revealed that the major and minor alleles were T and C, respectively. After we analyzed the association between the kinetic characteristics of sperm and the ZAR1 SNP genotype, we found a significant association in MOT (p<0.01), VSL (p<0.05) of the kinetic characteristics in the Duroc boars. It was confirmed that the boars with T allele were lower in MOT and VSL than C allele. Therefore, pigs with C allele are judged to be better at the MOT and VSL of semen. Based on these results, ZAR1 SNP genotyping may be a useful molecular biomarker to improve semen quality by applying molecular breeding technology.

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.

Linkage Analysis of the Resistance Genes to Whitebacked Planthopper (Sogatella furcifera Horvath) in Rice (수도의 흰등멸구(Sogatella furcifera Horvath)에 대한 저항성 유전자 연관분석)

  • ;Mun-Hue Heu
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.29 no.2
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    • pp.136-151
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    • 1984
  • The purpose of this study is to find out the linkage relationship of the resistance genes Wbph1 and Wbph2 which are known to be present in the rice cultivar N22 and ARC 10239 respectively, with the genetic markers which are identified as the specific linkage tester. Crosses were made between the resistant parents and the genetic marker stocks and their F$_2$ populations were grown out in the field. The genetic segregations of the marker character were studied and the seeds were harvested individual plant base. These F$_3$ seeds were grown into plant-line base in the greenhouse and their responses to the whitebacked planthopper were tested. Then the linkage relationship between the F$_2$ plant marker character and the F$_3$ resistance responses to the whitebacked planthopper were examined. In the F$_2$ generation of the crosses between the resistant parent N22 and the genetic marker stocks, the genetic markers, such as lg, d-t, g, la, bl and gl, showed the segregation of 3 dominance to 1 recessiveness, and the Bh marker segregated into 9:7 ratio. Another 4 marker genes, such as Cl, gh, Lh and bc, did not show the good fittness to the expected value. In the F$_2$ generation of the crosses between the resistant parent ARC 10239 and the genetic marker stocks, the genetic markers, such as Cl, lg, Pn, g, la, bl and gl, showed the segregation of 3 dominance to 1 recessiveness, and the Bh gene segregation fitted well to the 9:7. The rest 4 genetic markers, such as gh, Lh, nl and be, did not show the good fitness to the expected ratio. The resistance genes Wbphl of N22 and the Wbph2 of ARC 10239 appeared to be single dominant gene each. The Wbphl gene was linked with the marker gene, liguleless (lg) of linkage group II with the recombination value of 36.8%, and with the black hull (Bh) with the value of 35.9%. The Wbph2 gene appeared to be independent of all the markers tested here, such as Cl, lg, Pn, g, Lh, la, nl, bl, bc, gl, Bh, of linkage gtoup I, II, III, IV, VI, VII, VIII, IX, X, XI, and XII respectively. That the Wbph2 linkage relations were not investigated was regarded as the causes that the tested marker genes on the chromosome were located with the resistance gene at the distant loci, and of the phenctypic properties of the marker characters. The Wbph2 linkage relations should be reexamined in the cross combinations of linkage group Ⅶ, Ⅷ, Ⅹ and XII including linkage group V which was not tested in this experiment.

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The significance of corpus callosal size in the estimation of neurologically abnormal infants (신경학적인 결함이 있었던 영아의 예후 판단에서 뇌량 크기의 중요성)

  • Yu, Seung Taek;Lee, Chang Woo
    • Clinical and Experimental Pediatrics
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    • v.51 no.11
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    • pp.1205-1210
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    • 2008
  • Purpose : The development of the corpus callosum occupies the entire period of cerebral formation. The myelination pattern on magnetic resonance imaging (MRI) is very useful to evaluate neurologic development and to predict neurologic outcome in high risk infants. The thickness of the corpus callosum is believed to depend on the myelination process. It is possible to calculate the length and thickness of the corpus callosum on MRI. Thus, we can quantitatively evaluate the development of the corpus callosum. We investigated the clinical significance of measuring various portions of the corpus callosum in neonate with neurologic disorders such as hypoxic brain damage and seizure disorder. Methods : Forty-two neonates were evaluated by brain MRI. We measured the size of the genu, body, transitional zone, splenium, and length of the corpus callosum. Each measurement was divided by the total length of the corpus callosum to obtain its corrected size. The ratio of corpus callosal length and the anteroposterior diameter of the brain was also measured. Results : There was no statistical significance in the sample size of each part of the corpus callosum. However, the corrected size or the ratio of body of the corpus callosum correlated with periventricular leukomalacia and hypoxic ischemic encephalopathy. Conclusion : The abnormal size of the corpus callosum showed a good correlation with periventricular leukomalacia and hypoxic ischemic encephalopathy in neonates. We can predict clinical neurological problems by estimation of the corpus callosum in the neonatal period.

Effects of Bosaengtang Administration in Pregnant Rats and Fetuses (보생탕이 랫드의 모체와 태자에 미치는 영향에 대한 연구)

  • Kim, Chang-Seok;Lee, Sun-Dong;Kim, Pan-Gyi;Lee, Jang-Woo;Park, Hae-Mo
    • Journal of Society of Preventive Korean Medicine
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    • v.9 no.2
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    • pp.59-75
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    • 2005
  • The experiments were undertaken to evaluate the effects of Bosaengtang in pregnant rats and fetuses. Female Sprague-Dawley rats were orally administered with Bosaengtang at the dose of 5mg/kg/day for 20 days. Pregnant rats were sacrificed at the 20th day of gestation, and observed internal and reproductive organs. Fetuses were randomly selected and fixed in 95% ethanol. Fetuses were stained with alcian blue and alizarin red S, and observed skeletal malformations. The results obtained were as follows : Bosaengtang administered group showed higher maternal body weight than the control group, but both groups showed increase in weight. Bosaengtang administered group showed lower than the control group, and higher liver and kidney weight than the control group, but the differences were minimal. There were no significant changes between the control and treated group in blood chemistry values and hematological values but all the groups were within in normal ranges. There were no significant changes in the number of corpus luteum, implantation, live fetus and implantation rate, delivery rate, late resorption rate, sex ratio, but Bosaengtang administered group showed higher early resorption rate than control group. comparing the control and Bosaengtang group, neonatal body weight and the number of fetuses were increased in Bosaengtang group. The fetuses of dams treated with Oriental medicine didn't showed external malformation. Vertebral and sternal variations were observed in Bosaengtang group, but the differences were not apparent compared to the control group. The number of ribs, cervical, thoracic and lumbar vertebrae were normal. The number of sacral was similar and the number of caudal was increased. Fetuses showed significant difference in the number of caudal vertebrae. (P<0.01) From these results, we can carefully conclude that Bosaengtang showed beneficial effects on maternal body weight, early resorption rate, number of live fetus. There were no significant changes in organ weight, hematoscopy, reproduction organs. External malformation wasn't visible. Skeletal variations were showed in vertebrae and sternum but compared to the control group, these variations weren't much different.

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Analysis of right border flanking sequence in transgenic chinese cabbage harboring integrated T-DNA (Agrobacterium을 이용하여 형질전환시킨 배추에서 T-DNA Right Border 인접염기서열 분석)

  • Ahn, Hong-Il;Shin, Kong-Sik;Woo, Hee-Jong;Lee, Ki-Jong;Kim, Hyo-Sung;Park, Yong-Hwan;Suh, Seok-Cheol;Cho, Hyun-Suk;Kweon, Soon-Jong
    • Journal of Plant Biotechnology
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    • v.38 no.1
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    • pp.15-21
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    • 2011
  • We developed 14 transgenic lines of Chinese cabbage (Brassica rapa) harboring the T-DNA border sequences and CryIAc1 transgene of the binary vector 416 using Agrobacterium tumefaciens-mediated DNA transfer. Six lines had single copy cryIAc1 gene and four of them contained no vector backbone DNA. Of the left border (LB) flanking sequences six nucleotides were deleted in transgenic lines 416-2 and 416-3, eleven nucleotides in line 416-9, and 65 nucleotides including the whole LB sequences in line 416-17, respectively. And we defined 499 bp of genomic DNA (gDNA) of transformed Chinese cabbage, and blast results showed 96% homology with Brassica oleracea sequences. PCR with specific primer for the right border (RB) franking sequence revealed 834 bp of PCR product sequence, and it was consisted of 3' end of cryIAc1, nosterminal region and 52 bp of Chinese cabbage genomic DNA near RB. RB sequences were not found and the 58 nucleotides including 21 bp of nos-terminator 3' end were deleted. Also, there were deletion of 10 bp of the known genomic sequences and insertion of 65 bp undefined genomic sequences of Chinese cabbage in the integration site. These results demonstrate that the integration of T-DNA can be accompanied by unusual deletions and insertions both in transgenic and genomic sequences.

The Effect of Exercise Training on Aβ-42, BDNF, GLUT-1 and HSP-70 Proteins in a NSE/ APPsw-transgenic Model for Alzheimer's Disease. (지구성 운동이 NSE/APPsw 알츠하이머 질환 생쥐의 인지능력, Aβ-42, BDNF, GLUT-1과 HSP-70 단백질 발현에 미치는 영향)

  • Eum, Hyun-Sub;Kang, Eun-Bum;Lim, Yea-Hyun;Lee, Jong-Rok;Cho, In-Ho;Kim, Young-Soo;Chae, Kab-Ryoung;Hwang, Dae-Yean;Kwak, Yi-Sub;Oh, Yoo-Sung;Cho, Joon-Yong
    • Journal of Life Science
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    • v.18 no.6
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    • pp.796-803
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    • 2008
  • Mutations in the APP gene lead to enhanced cleavage by ${\beta}-$ and ${\gamma}-secretase$, and increased $A{\beta}$ formation, which are closely associated with Alzheimer's disease (AD)-like neuropathological changes. Recent studies have shown that exercise training can ameliorate pathogenic phenotypes ($A{\beta}-42$, BDNF, GLUT-1 and HSP70) in experimental models of Alzheimer's disease. Here, we have used NSE/APPsw transgenic mice to investigate directly whether exercise training ameliorates pathogenic phenotypes within Alzheimer's brains. Sixteen weeks of exercise training resulted in a reduction of $A{\beta}-42$ peptides and also facilitated improvement of cognitive function. Furthermore, GLUT -1 and BDNF proteins produced by exercise training may protect brain neurons by inducing the concomitant expression of genes that encode proteins (HSP-70) which suppress stress induced neuron cell damages from APPsw transgenic mice. Thus, the improved cognitive function by exercise training may be mechanistically linked to a reduction of $A{\beta}-42$ peptides, possibly via activation of BDNF, GLUT-1, and HSP-70 proteins. On the basis of the evidences presented in this study, exercise training may represent a practical therapeutic management strategy for human subjects suffering from Alzheimer's disease.