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A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene (분자유전학적으로 진단된 가부키 증후군 1례)

  • Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.103-108
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    • 2017
  • Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

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Effects of Seeding Dates and Growth Periods on the Growth Characteristics, Dry Matter Yield and Feed Value of Corn for Silage in Paddy Field (논토양에서 파종시기와 재배기간이 사일리지용 옥수수의 생육특성, 건물수량 및 사료적 가치에 미치는 영향)

  • Lee, Sang-Moo;Lee, Jae-Hun
    • Journal of Animal Science and Technology
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    • v.52 no.5
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    • pp.441-448
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    • 2010
  • This study was carried out to investigate the effects of the seeding dates and growth periods on the growth characteristics, dry matter yield and feed value of corn for silage in paddy field. The experimental design was arranged in a randomized block design with three replications. Treatments consisted of five seeding dates, 1 May (T1), 8 May (T2), 15 May (T3), 22 May (T4) and 29 May (T5). And harvesting time homologized by August 24. Therefore, growing periods were 115 days (T1), 108 days (T2), 101 days (T3), 94 days (T4) and 87 days (T5), respectively. In maturities at harvest time, T1, T2, T3, T4 and T5 were full dent, early dent, late dough, dough and early dough stage, respectively. Plant height and numbers of root system were highest in T5 (p<0.01), but leaf length was higher in T4 than others (p<0.05). Dead leaf, tip filling degree and ear circle were higher in T1 than others (p<0.05, 0.01). Leaf width, ear height, leaf number, ear length, stem diameter, stem hardness and brix were not significantly different among the treatments. Dry matter yield and TDN yield were higher in the order of T1 > T2 > T3 > T4 > T5 (p<0.01). Crude protein, crude ash, NDF, ADF and crude fiber were significantly higher in T4 (p<0.05, 0.01). But crude fat was the highest in T1, T3 was the lowest as compared to other treatments (p<0.01). Total EAA(essential amino acids) were higher in order of T4 > T3 > T1 > T2 > T5, and total NEAA (nonessential amino acids) were higher in order of T1 > T4 > T2 > T3 > T5, and total amino acids were higher in order of T4 > T1 > T3 > T2 > T5. But no significant differences were found among the treatments. TUFA (total unsaturated fatty acid) and TSFA (total saturated fatty acid) were in order of T1 > T2 > T3 > T5 > T4 (p<0.01). Minerals were the highest in T4 (4,721.25 mg/kg), and T2 (2,970.80 mg/kg) was the lowest as compared to other treatments (p<0.05). Based on the above results, seeding dates could be recommended as early May, and harvest times is yellow ripe stage for qualitative and quantitative production of corn for silage in rice paddy field soil.

Measurement of thermal expansion characteristic of root canal filling materials : Gutta-percha and Resilon (수 종의 근관충전재의 열팽창 특성 측정 : Gutta-percha와 Resilon)

  • Jeon, Kyung-A;Lee, In-Bog;Bae, Kwang-Shik;Lee, Woo-Cheol;Baek, Seung-Ho
    • Restorative Dentistry and Endodontics
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    • v.31 no.5
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    • pp.344-351
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    • 2006
  • The purpose of this study was to evaluate the thermal expansion characteristics of injectable ther-moplasticized gutta-perchas and a Resilon. The materials investigated are Obtura gutta-percha, Diadent gutta-percha, E&Q Gutta-percha Bar and Epiphany (Resilon). The temperature at the heating chamber orifice of an Obtura II syringe and the extruded gutta-percha from the tip of both 23- and 20-gauge needle was determined using a Digital thermometer. A cylindrical ceramic mold was fabricated for thermal expansion test, which was 27 mm long, with an internal bore diameter of 3 mm and an outer diameter of 10 mm. The mold was filled with each experimental material and barrel ends were closed with two ceramic plunger. The samples in ceramic molds were heated in a dilatometer over the temperature range from $25^{\circ}C$ to $75^{\circ}C$. From the change of specimen length as a function of temperature, the coefficients of thermal expansion were deter-mined. There was no statistical difference between four materials in the thermal expansion in the range from $35^{\circ}C$ to $55^{\circ}C$ (p > 0.05). However, Obtura Gutta-percha showed smaller thermal expansion than Diadent and Metadent ones from $35^{\circ}C$ to $75^{\circ}C$ (p < 0.05). The thermal expansion of Epiphany was similar to those of the other gutta-percha groups.

Potassium Physiology of Upland Crops (밭 작물(作物)의 가리(加里) 생리(生理))

  • Park, Hoon
    • Korean Journal of Soil Science and Fertilizer
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    • v.10 no.3
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    • pp.103-134
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    • 1977
  • The physiological and biochemical role of potassium for upland crops according to recent research reports and the nutritional status of potassium in Korea were reviewed. Since physical and chemical characteristics of potassium ion are different from those of sodium, potassium can not completely be replaced by sodium and replacement must be limited to minimum possible functional area. Specific roles of potassium seem to keep fine structure of biological membranes such as thylacoid membrane of chloroplast in the most efficient form and to be allosteric effector and conformation controller of various enzymes principally in carbohydrate and protein metabolism. Potassium is essential to improve the efficiency of phoro- and oxidative- phosphorylation and involve deeply in all energy required metabolisms especially synthesis of organic matter and their translocation. Potassium has many important, physiological functions such as maintenance of osmotic pressure and optimum hydration of cell colloids, consequently uptake and translocation of water resulting in higher water use efficiency and of better subcellular environment for various physiological and biochemical activities. Potassium affects uptake and translocation of mineral nutrients and quality of products. potassium itself in products may become a quality criteria due to potassium essentiality for human beings. Potassium uptake is greatly decreased by low temperature and controlled by unknown feed back mechanism of potassium in plants. Thus the luxury absorption should be reconsidered. Total potassium content of upland soil in Korea is about 3% but the exchangeable one is about 0.3 me/100g soil. All upland crops require much potassium probably due to freezing and cold weather and also due to wet damage and drought caused by uneven rainfall pattern. In barley, potassium should be high at just before freezing and just after thawing and move into grain from heading for higher yield. Use efficiency of potassium was 27% for barley and 58% in old uplands, 46% in newly opened hilly lands for soybean. Soybean plant showed potassium deficiency symptom in various fields especially in newly opened hilly lands. Potassium criteria for normal growth appear 2% $K_2O$ and 1.0 K/(Ca+Mg) (content ratio) at flower bud initiation stage for soybean. Potassium requirement in plant was high in carrot, egg plant, chinese cabbage, red pepper, raddish and tomato. Potassium content in leaves was significantly correlated with yield in chinese cabbage. Sweet potato. greatly absorbed potassium subsequently affected potassium nutrition of the following crop. In the case of potassium deficiency, root showed the greatest difference in potassium content from that of normal indicating that deficiency damages root first. Potatoes and corn showed much higher potassium content in comparison with calcium and magnesium. Forage crops from ranges showed relatively high potassium content which was significantly and positively correlated with nitrogen, phosphorus and calcium content. Percentage of orchards (apple, pear, peach, grape, and orange) insufficient in potassium ranged from 16 to 25. The leaves and soils from the good apple and pear orchards showed higher potassium content than those from the poor ones. Critical ratio of $K_2O/(CaO+MgO)$ in mulberry leaves to escape from winter death of branch tip was 0.95. In the multiple croping system, exchangeable potassium in soils after one crop was affected by the previous crops and potassium uptake seemed to be related with soil organic matter providing soil moisture and aeration. Thus, the long term and quantitative investigation of various forms of potassium including total one are needed in relation to soil, weather and croping system. Potassium uptake and efficiency may be increased by topdressing, deep placement, slow-releasing or granular fertilizer application with the consideration of rainfall pattern. In all researches for nutritional explanation including potassium of crop yield reasonable and practicable nutritional indices will most easily be obtained through multifactor analysis.

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Study on the Utilization of the Rice-transplanter in the Double Cropping Paddy Field (이모작답(二毛作畓)에 있어서 수도이앙기(水稻移秧機)의 실용화(實用化)에 관(關)한 연구(硏究))

  • Kim, Soung-Rai;Kim, Young-Rae;Jo, Jai-Seong;Lee, Sang-Woo
    • Korean Journal of Agricultural Science
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    • v.4 no.1
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    • pp.94-104
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    • 1977
  • In order to investigate the effects of mechanical transplanting on the rice, four rice varieties including Jo-saing Tongil were planted in case nursering bed for three times with 10 days interval beginning from April 16. Fourty days old seedlings were transplanted with rice-transplanter, and growth habits of seedlings in bed and rice plants in main field and yield were examined and summerized as follows: 1. The plant height and number of leaves of the 40 days old seedling in case nursery bed were appeared to be less than those of seedlings grown in ordinary nursery bed. In case nursery, the plant height and number of leaves of seedlings grown in case nursery were apparently higher than those of seedlings grown in upland case nursery. 2. The root of 40 days old seedlings were cut to investigate the rooting ability of seedlings, and the rooting ability of the seedlings grown in the case nursery bed were apparently lower in the rooting ability compared with the seedlings grown in ordinary nursery bed. The rooting ability of the seedlings grown in the lowland case nursery was higher than that of the seedlings grown in the upland case nursery. 3. The tip of leaves of the varieties derived from Indica type were becoming yellow and yellow-red in color 25 to 30 days after planted in the case nursery bed. Those varieties was almost stopped growth. 4. The seedlings transplanted by transplanter had shown more than five to seven days of delay in rooting, compared with the seedlings transplanted by ordinary method. The heading dates was delayed five to seven days when transplanter was used, even though the delay of heading dates was a little different depending on the varieties. 5. The yields of unhulled rice were a little lower than that of Yusin variety which was hand planted. When mechanically transplanted, the yield of Tongil variety was highest in the plot where seedlings were transplanted on May 26. When transplanted on June 15, Milyang#15 was highest in yield, indicating the importance of varietal selection in mechanical transplantation. 6. The rice transplanter could transplant from 73 to 108 seedlings per $3.3m^2$. If the seeds of rice were evenly planted in the bed, the two-row rice transplanter could be used five to six times more effectively with less than one percent of missing plant compared with the hand transplanting. This suggests that rice transplanter could be utilized in the mono cropping area. 7. Since the time of transplantings in the double-cropping area is rather limitted, mechanical transplantation might be possible without reducings yield providing better adapted varieties and improved case-nursery techniques.

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