• Title/Summary/Keyword: P-deficiency

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Characterization of Mutations in Bruton's Tyrosine Kinase(Btk) Gene from Unrelated 3 X-linked Agammaglobulinemia(XLA) Families in Korea (국내 X-관련성 범저감마글로불린혈증 세가족에 대한 Bruton's Tyrosine Kinase 단백질 발현 및 유전자 변이 분석)

  • Song, Chang-Hwa;Jo, Eun-Kyeong;Park, Jeong-Kyu;Kim, Jung-Soo;Hong, Soo-Jong;Lee, Jae-Ho
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.302-310
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    • 2002
  • Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients and additional family members in three unrelated XLA families. Mononuclear cells were separated from their blood and the intracellular Btk protein was characterized by a flow cytometry. The mutation analysis was performed using direct sequencing. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in the patients with XLA. We observed a novel deletion and two point mutations within introns(intron 1 and intron 18) resulting in alternative splicings. In XLA family 2, a 980 bp deletion(from intron 9+191 T to intron 10-215 C) including exon 10 was found in patient P2. He was the only sporadic case in this study, because his mother and brother showed a normal Btk expression by flow cytometry. Conclusion : These identified genetic alterations support the molecular heterogeneity of Btk gene in XLA disease. Additionally, by means of flow cytometric analysis, we diagnosed three hypogammaglobulinemia patients as XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.

Sleep Patterns of Middle and High School Students in Seoul (서울 거주 중.고등학교 학생의 학년별 수면 양상)

  • Song, Hyoung-Seok;Park, Young-Min;Nam, Min;Kim, Leen
    • Sleep Medicine and Psychophysiology
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    • v.7 no.1
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    • pp.51-59
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    • 2000
  • Objectives: It is been reported that sleep patterns change significantly during the adolescent years. In Korea, the sleep patterns of adolescents have not been investigated systematically. The authors performed preliminary study about sleep patterns of middle and high school students in Seoul before nationwide study. Methods: The authors selected one of middle and high schools located in typical middle class area in Seoul. The study was performed during the periods when examination or vacation did not affect the sleep cycle. Fifty to one hundred male and female students were selected from one school year each. One of investigators explained the purposes and methods of this study to the students and gave additional explanation to the teachers in charge. We designed a questionnaire for subjects to describe the nap time, bedtime, sleep latency, total sleep time, rise time and sleep efficiency, and the students recorded sleep logs for seven days including weekend. Eight hundred three students answered the questionnaires. Among them, we selected the subjects who recorded sleep logs at least three days and filled up the questionnaires completely. Finally, seven hundred seventy one subjects were included in this study. Weekend was defined as the time from Saturday morning to Sunday morning, and Sunday sleep patterns were treated separately. Results: Across the six school years, school-night bedtimes were delayed one hundred twenty four minutes and school-ight rise times were advanced by thirty five minutes. School-night total sleep times were decreased by one hundred fifty eight minutes, and weekend bedtimes were delayed by one hundred twenty five minutes. The students tended to oversleep on weekends, and the mean of weekend oversleep was ninety six minutes. But, bedtime in weekends was not delayed. Daytime sleep, sleep latency and sleep efficiency were not changed greatly across six school years. Total sleep time of female students was decreased significantly between third middle school year and first high school year, but time of male students was decreased between first and second high school year. Conclusion: It is supposed that sleep deficiency of middle and high school students in Seoul was due to delayed bedtimes and advanced rise times across the school years.

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The Effect of Isoflavone Supplementation on Bone Metabolism in Ovariectomized SD Rats (이소플라본 보충이 난소절제 흰쥐의 골대사에 미치는 영향)

  • Park, Young-Hee;Yoon, Sun;Chung, Soo-Youn;Yang, Seoung-Oh;Yoo, Tae-Moo;Yang, Ji-Sun;Kwon, Dae-Joong
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.30 no.4
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    • pp.657-661
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    • 2001
  • Osteoporosis that is associated with ovarian hormone deficiency following menopause (postmenopausal osteoporosis) is by far the most common cause of age-related bone loss. Isoflavone has been reported as a natural substance that possibly minimizes bone loss in postmenopausal women. This study was conducted to investigate the preventing, treating effects of isoflavone on bone loss in ovariectomized rats. 120 Sprague Dawley rats of 13 week-old were devided into 2 groups, a treatment group and prevention group. Each group was consisted of six subgroups; control (CON), sham operated (SH) or ovariectomized (OVX) and isoflavone supplemented goups: OVX+0.25mg isoflavone/kg diet (OL), OVX+0.8mg isoflavone/kg diet(OM) and OVX+2.5mg isoflavone/kg diet(OH). to study the preventing effects of isoflavone on bone loss, OL, OM and OH groups were fed with isoflavone from 4 days after ovariectomization. Treating effects of isoflavone on bone metabolism were investigated with OL, OM, OH groups supplemented with isoflavone from 8 weeks after ovariectomization. Isoflavone supplementation continued for 8 weeks. At 8 weeks after ovariectomization significant increase in alkaline phosphatase occurred comparing with CON and SH group. By isoflavone supplementation from 4 days after ovariectomy alkaline phosphatase and urinary hydroxyproline were lowered and bone mineral density, bone strength of the femur and tibia and bone dry weight were slightly enhanced with no significant difference. Isoflavone supplemented group at the level of 0.8mg/kg diet (OM group) had significantly lower serum alkaline phosphatase, urinary hydroxyproline, and higher strength of femur than OVX group. Groups with isoflavone supplementation fro 8 weeks after ovariectomy had lower level of serum alkaline phosphatase, urinary hydroxyproline than OVX group. Bone mineral density, bone dry weight and bone strength of the femur and tibia were slightly enhanced by isoflavone supplementation. However there was no significanct difference between OVS ad isoflavone supplementation groups. The results suggest that isoflavone might have potential role for preventing postmenopausal bone loss. Isoflavone supplementation at early stage of postemenopause may be beneficial to age-related bone health.

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Effects of Ca Supplementation on Mineral Metabolism during Pregnancy and Lactation of Calcium-Deficient Young Adult Rats (칼슘섭취 부족 흰쥐에서 임신, 수유기 동안 칼슘보충 수준이 무기질 대사에 미치는 영향)

  • 박미나;김은애;이연숙
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.33 no.6
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    • pp.958-964
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    • 2004
  • This study examined the effects of maternal calcium intake levels on mineral metabolism during pregnancy and lactation. Five week-old female Sprague-Dawley rats were fed normal Ca (NCa, 0.5%) and low Ca (LCa, 0.15%) diets for 5 weeks during preconception. The low Ca intake group was divided into three groups and fed low Ca (0.15%), normal Ca (0.5%) and high Ca (1.5%) diets for 6 weeks during pregnancy and lactation. All of the rats were mated with normal male rats. The control group was consistently fed a normal Ca diet for 11 weeks. Pups were adjusted to 10 per dam. After weaning, dams and their weaned rats were sacrificed. We measured total protein, albumin, alkaline phosphatase and mineral content in serum and weight, length, breaking force, ash and mineral content in bone and kidney. There was no significant difference in weight gain and food intake among the groups. Serum total protein and albumin were in the normal range but slightly decreased with a low Ca diet during preconception. Calcium supplementation above normal level increased bone weight, Ca content and breaking force in femur of maternal and their weaned rats. However, high maternal Ca intake significantly decreased Mg and Fe contents in maternal serum and bone and Mg and Zn contents in serum of weaned rats. Also, it induced Ca, P and Mg deposit in maternal kidney. Our experimental results suggest that Ca deficiency during preconception may deteriorate bone status of mother and their offsprings. Moreover, high Ca supplementation during pregnancy and lactation may lead to disturb mineral metabolism in bone and other tissues.

The Behaviors of Phosphorus-32 and Ptoassium-42 under the Control of Thermoperiod and Potassium Level (가리(加里)와 온도주기성(溫度週期性)이 고구마 생육(生育) 및 인(燐)-32, 가리(加里)-42 동태(動態)에 미치는 영향(影響))

  • Kim, Y.C.
    • Korean Journal of Soil Science and Fertilizer
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    • v.1 no.1
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    • pp.89-115
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    • 1968
  • 1. The experiment was carried out for investigating the interaction between potassium nutrition and thermoperiod (as an environment regulating factor) in relation to behaviors of several nutrients including phosphorus-32 and Potassium-42 in IPOMOEA BATAS. 2. To obtain same condition to trace the behaviors of phosphorus and potassum-42 they were simultaneously incorporated to roots. The determination of each CPM by counting twice with adequate interval and calculating true CPM of each isotope according to different half-life, was carried out with satisfactory. 3. Some specific symptoms i.e, chlorosis and withering of growing point under the condition of lower potassium level were found and was accelerated by the low night temperature. 4. A manganese shortage in growing point of the lower potassium level was found by activiation analysis and very low distribution ratio of phosphorus-32 and potassium-42 in the growing point of the lower potassium level was manifested, though the contents of nitrogen, phosphorus, potassium, sodium and magnesium were not in great difference. 5. In addition to the low water content with appearence of "hard", shorterning internode and lower ratio of roots to shoot as well as the symptoms of potassium deficiency such as brown spot in leaf blade and necrosis of leaf margin were appeared at later stage of experiment at the lower potassium level. 6. Very stimulating vegetative growth, e.g, large plant length, leaf expansion, increasing node number and fresh weight as well as high ratio of roots to shoot, high water content was resulted in the condition of higher potassium level. 7. A specific interaction between higher potassium level and thermoperiod was found, that is, the largest tuber production and the largest ratio of roots to shoot were resulted in the combined condition of higher potassium level and constant temperature while the largest plant length, fresh weight etc. i.e. the most stimulative vegetative growth was resulted in the combined condition of higher potassium level and low night temperature. 8. Comparatively low water content in the former condition of stimulative tuber production was resulted(especially at the tuber thickening stage), while high water content in the latter condition of stimulative vegetation was resulted though the higher potassium level made generally high water contents. 9. The nitrogen contents of soluble and insoluble did not make distinct difference between the lower and higher potassium level. 10. Though the phosphorus contents were not distinctly different by the potassium level, the lower potassium level made the percentage of phosphorus increased at tuber forming stage accumulating more phosphorus in roots, while the higher potassium level decreased percentage of phosphorus at that stage. 11. The higher potassium level made distinctly high potassium contents than the lower potassium level and increased contents at the tuber forming stage through both conditions. 12. The sodium contents were low in the condition of higher potassium level than the lower potassium level and decreased at tuber forming stage in both conditions, on the contary of potassium. 13. Except the noticeable deficeney of manganese in the growing point of the lower potassium level, mangense and magnesium contents in other organs did not make distinct difference according to the potassium level. 14. Generally more uptake and large absorption rate of phosphorus-32 and potassium-42 were resulted at the higher potassium level, and the most uptake, and the largest absorption rate of phosphorus and potassium-42 (especially potassium-42 at tuber forming stage) were resulted in the condition of higher potassium level and constant temperature which made the highest tuber production. 15. The higher potassium level stimulated the translocation of phoshorus-32 and potassium-42 from roots to shoots while the lower potassium level suppressed or blocked the translocation. 16. Therefore, very large distribution rate of $p^{32}$, $K^{42}$ in shoot, especially, in growing point, compared with roots was resulted in the higher potassium level. 17. The lower potassium level suppressed the translocation of phosporus-32 from roots to shoot more than that of potassium-42. 18. The uptake of potassium-42 and translocation in IPOMOEA BATATAS were more vivid than phosphorus-32. 19. A specific interaction between potassium nutrition and thermoperiod which resulted the largest tuber production etc. was discussed in relation to behaviors of minerals and potasium-42 etc. 20. Also, the specific effect of the lower and higher potassium level on the growth pattern of IPOMOEA BATATAS were discussed in relation to behaviors of minerals and isotopes. 21. An emphasize on the significance of the higher potassium level as well as the interaction with the regulating factor and problem of potassium level (gradient) for crops product ion were discussed from the point of dynamical and variable function of potassium.

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A Study on the Dietary Behaviors, Physical Development and Nutrient Intakes in Preschool Children (학령 전 아동의 식습관, 신체 발달 및 영양 섭취상태에 관한 연구)

  • Yu, Kyeong-Hee
    • Journal of Nutrition and Health
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    • v.42 no.1
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    • pp.23-37
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    • 2009
  • The purpose of this study was to investigate the health status of preschool children using the questionnaires about dietary behaviors and anthropometric indices. And also nutritional status was investigated using questionnaires for 24-hr recall method. The study was conducted in 145 children aged 3 to 6 years and questionnaires for dietary behaviors and dietary intakes were performed by mothers of children in Ulsan. Just nine percent of children were graded as good in terms of having healthy eating habits, this means that the nutrition education for the dietary behaviors should be more focused on preschool children. With regard to the frequency of food intake, children consumed green & yellow vegetables less frequently, meanwhile consumed high protein source food (meat, egg and bean) and milk and its product more frequently. Children almost never consumed fried foods as often as 1-2 times a weak. In assessment of the health status, children have the highest prevalence of colds and allergy, but lower prevalence of clinical symptoms due to the nutritional deficiency. The mean height was $103.6\;{\pm}\;6.4\;cm$ and significantly different among age (p < 0.05), but was not significantly different between sex. The mean weight was $17.8\;{\pm}\;3.0\;kg$ and significantly different in 5, 6years old among age. By the WLI criteria, 11.1% of children were underweight and 17.4% of children were overweight or obese. By the Rohrer index criteria, any children were not underweight and 86.8% of children were overweight or obese. By the Kaup index criteria, 2.8% of children were underweight and 29.2% of children were overweight or obese. And Obesity Index criteria, 2.1% of children were underweight and 20.8% of children were overweight or obese. The results of obesity rate by all criteria except Rohrer index indicated similar level, were significantly high in age 3 with all criteria, and decreased with age increased. The energy intake of children was lower than EER (Estimated Energy Requirements) of Dietary Reference Intakes for Koreans (KDRIs) by as much as 85.7%. Acceptable Macronutrient Distribution Ranges (AMDR) was 62.6:21.5:15.7 as carbohydrate:protein:lipid, so children consumed protein more, but consumed lipid less compared with those of KDRIs. Vitamin A intake was 133% of recommended intakes (RI) and calcium intake which was identified as the nutrient most likely to be lacking in diets was 98.9% of RI. The intakes of all minerals and vitamins except folate were higher than KDRIs. 33.3% of children were distributed in insufficiency of energy intake, 42.7% of children were distributed in insufficiency of lipid intake. These results indicate that the need of developing of nutrition education program and further concern of a public health center, university and children care center about dietary life for preschool children.