• Title/Summary/Keyword: abnormal growth

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Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome

  • Young-Sun Kim;Woojeong Kim;Ji-Hoon Na;Young-Mock Lee
    • Clinical Nutrition Research
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    • 제12권3호
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    • pp.169-176
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    • 2023
  • Glucose transporter type 1 (GLUT1) deficiency syndrome (DS) is a metabolic brain disorder caused by a deficiency resulting from SLC2A1 gene mutation and is characterized by abnormal brain metabolism and associated metabolic encephalopathy. Reduced glucose supply to the brain leads to brain damage, resulting in delayed neurodevelopment in infancy and symptoms such as eye abnormalities, microcephaly, ataxia, and rigidity. Treatment options for GLUT1 DS include ketogenic diet (KD), pharmacotherapy, and rehabilitation therapy. Of these, KD is an essential and the most important treatment method as it promotes brain neurodevelopment by generating ketone bodies to produce energy. This case is a focused study on intensive KD nutritional intervention for an infant diagnosed with GLUT1 DS at Gangnam Severance Hospital from May 2022 to January 2023. During the initial hospitalization, nutritional intervention was performed to address poor intake via the use of concentrated formula and an attempt was made to introduce complementary feeding. After the second hospitalization and diagnosis of GLUT1 DS, positive effects on the infant's growth and development, nutritional status, and seizure control were achieved with minimal side effects by implementing KD nutritional intervention and adjusting the type and dosage of anticonvulsant medications. In conclusion, for patients with GLUT1 DS, it is important to implement a KD with an appropriate ratio of ketogenic to nonketogenic components to supply adequate energy. Furthermore, individualized and intensive nutritional management is necessary to improve growth, development, and nutritional status.

주요 수간곡선식 비교에 따른 남부지역 곰솔 수간재적표 개발 (Developing Stem Volume Table of Pinus thunbergii Parl. in Southern Region Based on Comparison of Major Taper Equations)

  • 김현수;정수영;이광수
    • 한국환경과학회지
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    • 제33권7호
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    • pp.453-462
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    • 2024
  • This study was carried out for the purpose of selecting the most appropriate taper equation for the actual stands of Pinus thunbergii in the southern coastal region of Korea and then developing a stem volume table to provide basic data for rational management. To develop a volume table of Pinus thunbergii in this region of Korea, 59 sample trees with various diameter distributions were selected and stem analysis was performed. As a result of stem analysis, two trees with abnormal diameter and height growth as the age increased were rejected, and 57 trees were analyzed. To develop the taper equation, seven major variable exponential equations were used, including Kozak 1988, 1994, 2001, 2002, Bi 2000, Muhairwe 1999, and Sharma and Parton 2009. As a result of parameter estimation and statistical verification, the Kozak 1988 model showed the highest goodness of fit with Fit I (Fit Index), RMSE 1.5620, Bias 0.0031, and MAD 1.0784. The diameter of each 10cm stem ridge for the selected model was estimated, and a stem volume table was produced using the mensuration of division (end area formula) using the Smalian equation. As a result of two-sample T-test for volume table of this study and current yield table, the volume for this study was found to be significantly larger at all observation points (p < 0.001). Even for the same tree species, it is judged that differentiated volume tables are needed for each growth environment characteristic.

청소년기에 시행한 전방십자인대 재건술 (Reconstruction of Anterior Cruciate Ligament in Adolescent)

  • 송은규;심상돈;김현종;김형원
    • 대한관절경학회지
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    • 제6권2호
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    • pp.101-108
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    • 2002
  • 목적 : 성장이 남아있는 청소년기 전방 십자 인대 손상에 대한 전방 십자 인대 재건술의 임상적, 방사선학적 결과에 대해 알아보고자 하였다. 대상 및 방법 : 1993년부터 2001년까지 전방십자인대 재건술을 시행받은 445예 중 19세 이하 12예를 대상으로 하였다. 남자가 11예 여자가 1예였고 수술당시 평균 나이는 75.9$(13.1\~16.9)$년 최종추시상 20.1$(18.1\~22.7)$년 이었다. 평균 추시기간은 45.1$(24\~120.6)$개월이었다. 사용된 이식건은 자가 슬괵건이 11예 자가 골-슬개건-골이 1예였다. 임상성적은 Lysholm Knee Scoring Scale, 관절운동범위, 수상 전 스포츠로 복귀정도를, 방사선학적 결과는 $Telos^{\circledR}$ 기기를 이용한 전방전위도를 정상측과 비교하였다. 골성숙도는 술전 월령, 신장 및 슬관절 전후면 방사선 촬영상 성장판의 상태로 평가 하였고 최종 추시상 Teleorontegehogram로 하지부동 정도와 대퇴경골각 (Femorotibial angle), 해부학적 및 역학적 외측 원위 대퇴각(aLDFA, mLDFA), 역학적 내측 근위 경골각 (mMPTA)을 정상측과 비교하여 성장장애를 평가하였다. 결과 : Lysholm Knee Score는 술전 평균 51$(25\~63)$점에서 최종추시상 98$(94\~100)$점으로 호전되었고, $Telos^{\circledR}$ 기기를 이용한 전방전위도는 술 전 평균 13.5$(6\~27)$ mm에서 술후 평균 2.9$(1\~4)$ mm로 호전되었으며 임상적으로 의의있는 슬관절 불안정성은 관찰되지 않았다. 최종추시상 성장판 손상에 의한 1 cm 이상의 하지부동은 관찰되지 않았다. 결론 : 성장이 남아있는 골 미성숙 환자의 전방 십자 인대 재건술은 하지부동이나 슬관절 정열이상이 없는 좋은 치료방법으로 생각된다.

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백미대맥(白米大麥) 및 속(粟) 사료(飼料)가 실험용(實驗用) 백서(白鼠)에 미치는 영양학적(營養學的) 및 생물화학적(生物化學的) 연구(硏究) (Biochemical and Nutritional Effects of Rice, Barley, and Millet on Rats)

  • 허검
    • Journal of Nutrition and Health
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    • 제1권1호
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    • pp.9-18
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    • 1968
  • Dividing into six(6) experimental groups; Stock Diet(SD) Group, Rice Diet(RD) Group, Rice Diet supplemented with Barley(RD-BD) Group, Barley Diet(BD) Group, Rice Diet supplemented with Millet(RD-MD) Group, and Millet Diet(MD) Group, biochemical and nutritional effects of rice, barley, and millet on rats are studied. The grains used in this experiment are polished ones and purchased from market. Six(6) weaning male albino rats are housed into the individual cages in each group and fed with each experimental diet and water ad libitum for 21 weeks. The composition of the experimental diets are shown in Table 1. At the end of experiment, the appearences of rats are observed and the bloods are sampled by heart puncture method following ether anesthesia for determinations of serum protein and serum cholesterol. And the livers are sampled immediately right after heart after heart puncture for determinations of liver weight, liver nitrogen, liver fat, and liver glycogen. And also liver tissues are observed histologically. The result of growth experiment is shown in Table 2 and Figure 7. The results of blood analysis are shown in Table 3 and the results of liver analysis are shown in Table 4. And the histological observations of liver tissue are shown in Figures 1, 2, 3, 4, 5, and 6. According to the above results, it could be summarized as follows; 1) The normal appearences are observed at SD Group and BD Group. Alopecia is observed at RD, RD-­BD, RD-MD, and MD groups and the wet appearences of hair are observed at RD-MD and MD groups. The color of hair is changed to yellowish white at RD, RD-MD groups. The maximum growth inhibition, is observed at MD group and the growths of RD, RD-BD, BD, and RD-MD groups are significantly lower than that of SD group. The growth of RD group is lower than those of RD-BD and BD groups, though this difference is not significant. 2) At the blood analysis, the highest serum protein content is shown at SD group and the lowest serum protein is observed at MD group. The serum cholesterol contents are not significantly different among the six(6) experimental groups. 3) The highest liver weight is observed at SD group and the lowest weight is shown at MD group. However, oppositely the highest liver weight per 100 grams of body weight at MD group and the lowest liver weight per 100 grams of body weight at SD group are observed as shown in Table 6. 4) The differences of liver nitrogen contents of RD, RB-BD, BD, RD-MD, and MD Groups are not significant except SD group showing the highest content. 5) The significant highest content of liver fat is observed at RD group and the lowest content of liver fat is shown at SD group. And no significant differences in contents of liver glycogen are observed among the six(6) experimental groups. 6) No significant abnormal histological changes of liver tissue are observed at SD, RD-BD, and BD groups. However, the fat metamorphosis at peripheral zone of liver tissue is observed at RD Group and the some histological abnormal changes are observed at RD-MD and MD groups. According to the above summaries, the followings might be estimated and recommended; 1) The BD group shows histological normality of liver tissue, improvement of liver fat and liver nitrogen, normality of appearence, and better growth compared with RD Group. This could be indicated that barley is nutritionally and biochemically better than rice as the feeding diet on rat. And it might be considered that there might be the species speciality for nutritionary evaluation of food. 2) Recently, Marshall indicated that the high consumption of carbohydrate causes fatty liver and Kondo reported that the higher consumption of rice causes the more heart disease and the shorter life span. Considering these reports, the higher consumption of rice as a main dish in our country should be considered as an important national nutritional problem. And this might be improved by supplementing with barley or other grains to rice.

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EFFECT OF HARDNESS CHANGES AND MICROSTRUCTURAL DEGRADATION ON CREEP BEHAVIOR OF A Mod.9Cr-1Mo STEEL

  • PARK K. S.;CHUNG H. S.;LEE K. J.;JUNG Y. G.;KANG C. Y.;ENDO T.
    • International Journal of Automotive Technology
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    • 제6권1호
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    • pp.45-52
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    • 2005
  • Interrupted creep tests for investigating the structural degradation during creep were conducted for a Mod.9Cr-1Mo steel in the range of stress from 71 to 167 MPa and temperature from 873 to 923 K. The change of hardness and tempered martensitic lath width was measured in grip and gauge parts of interrupted creep specimens. The lath structure was thermally stable in static conditions. However, it was not stable during creep, and the structural change was enhanced by creep strain. The relation between the change in lath width and creep strain was described quantitatively. The change in Vickers hardness was expressed by a single valued function of creep LCR(life consumption ratio). Based on the empirical relation between strain and lath width, a model was proposed to describe the relation between change in hardness and creep LCR. The comparison of the model with the empirical relation suggests that about 65% of hardness loss is due to the decrease of dislocation density accompanied by the movement of lath boundaries. The role of precipitates on subboundaries was discussed in connection with the abnormal subgrain growth appearing in low stress regime.

재생불량빈혈(Aplastic anemia) (Aplastic anemia)

  • 김학기
    • Clinical and Experimental Pediatrics
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    • 제50권6호
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    • pp.519-523
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    • 2007
  • Aplastic anemia is a rare disease, which is characterized by pancytopenia and hypocellular bone marrow without infiltration of abnormal cells or fibrosis. The incidence in Asia is higher than in the West and new cases are diagnosed at a rate of 5.1 per million pediatric populations per year in Korea. The pathophysiology is understood roughly by defective hematopoiesis, impaired bone marrow micro-environment and immune mechanism. Treatments are performed on basis of pathogenesis and selected depending on the severity. Immunosuppressive therapy with antilymphocyte or antithymocyte globulin and cyclosporine is effective in the majority of patients but has some problems including relapse or clonal evolution. Recently, there have been clinical trials of immunosuppression with hematopoietic growth factors or other drugs. Allogeneic hematopoietic stem cell transplantation (HSCT) is curative in children with severe aplastic anemia. The overall survival in HSCT from HLA-identical sibling is higher than alternative donor, including HLA matched unrelated donor or cord blood. We have to consider quality of life after HSCT because of high survival rate. However, chronic graft versus host disease and graft failure are important factors that affect the quality of life and overall survival. We need further investigation to make new regimens aimed at overcoming these risk factors and perform clinical trials.

Translation Initiation Factor 4E (eIF4E) is Regulated by Cell Death Inhibitor, Diap1

  • Lee, Sun Kyung;Lee, Ji Sun;Shin, Ki Soon;Yoo, Soon Ji
    • Molecules and Cells
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    • 제24권3호
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    • pp.445-451
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    • 2007
  • Translation initiation factor 4E (eIF4E) is a key regulator of protein synthesis. Abnormal regulation of eIF4E is closely linked to oncogenic transformation. Several regulatory mechanisms affecting eIF4E are discussed, including transcriptional regulation, phosphorylation and binding of an inhibitor protein. However it is not clear how the level of eIF4E protein is regulated under basal conditions. Here we demonstrate that Diap1 (Drosophila Inhibitor of Apoptosis Protein), a cell death inhibitor, binds directly to eIF4E and poly-ubiquitinates it via its E3 ligase activity, promoting its proteasome-dependent degradation. Expression of Diap1 caused a reduction of Cyclin D1 protein level and inhibited the growth stimulation induced by overexpression of eIF4E. Taken together, our results suggest that the level of eIF4E protein is regulated by Diap1, and that IAPs may play a role in cap-dependent translation by regulating the level of eIF4E protein.

FISH에 의해 확진된 Mosaic Ring Chromosome 4의 환아 1 예 (A Case of Mosaic Ring Chromosome 4 Diagnosed by FISH Technique)

  • 윤숙경;임민혜;김실경;조현찬
    • 대한임상검사과학회지
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    • 제41권1호
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    • pp.6-10
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    • 2009
  • Ring chromosome occurs when both telomeres of a chromosome are lost and the remaining portion of the chromosome circularizes to re-establish chromosome stability. This abnormal structure shows mitotic instability unlike the normal chromosomes, causing problems during mitosis. Here, we report one case of "chromosome 4 ring syndrome" on a 6-month-old male patient with growth retardation. Ring chromosome, monosomy, dicentric chromosome were shown by conventional chromosome analysis using peripheral blood. Peripheral blood was used and incubated for 72 hours for chromosome analysis. 3 probes (LSI WHS SpectrumOrange/CEP 4 SpectrumGreen, 4p subtelomere probe, 4q subtelomere probe) were used to detect the origin and breakpoint of ring chromosome 4 by FISH (fluorescense in situ hybridization) technique.

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A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

  • Ko, Jung Min;Hah, J.-Hun;Kim, Suk-Wha;Cho, Tae-Joon;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • 제9권2호
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    • pp.89-92
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    • 2012
  • Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

Significance of Some Proliferation Markers and Some Prognostic Factors in Patients with Multiple Myeloma and their Impact on the Patients' Survival

  • Abdelgawad, Iman A.;Radwan, Noha H.;Shafik, Roxan E.;Shokralla, Hala A.
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권5호
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    • pp.2389-2394
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    • 2016
  • Background: Multiple myeloma (MM) is influenced by genetic and micro-environmental changes. Malignant plasma cells produce an abnormal monoclonal immunoglobulin, as well as cytokines, such as IL-10 and IL-6 which stimulate cells of the bone marrow microenvironment (BMM) and cause dysfunction and failure of many organs. B cell activating factor (BAFF), IL6, IL10 are known to influence the growth & survival of the malignant clone. Aim: The objectives of the present study were to investigate the circulating levels of BAFF, IL-10 and IL-6, correlate them with well-known parameters of disease activity in patients with MM, and to detect their impact on the patients' survival. Materials and Methods: This study was conducted on 89 newly diagnosed MM patients and seventy apparently healthy volunteers as a normal control group. BAFF, IL6, IL10 were measured by ELISA for both groups. Survival analysis was performed for all patients. Results: Studied markers were higher in the MM patients compared to the normal control subjects. Patients' survival was improved by high serum BAFF levels. Conclusions: High levels of BAFF were found to improve patients' survival. BAFF and IL-6 can be considered probable diagnostic markers for MM.