• Title/Summary/Keyword: Family Deficiency

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A Single Nucleotide Deletion resulting in Frameshift in Two Korean Neonates with Thyroxine-Binding Globulin Deficiency (단일 뉴클레오타이드 결손으로 인한 Frameshift 돌연변이로 규명된 티록신결합글로불린 결핍증 1례)

  • Park, Sang-Joon;Suh, Jin-Soon;Jung, Min-Ho;Lee, Hee-Jin;Suh, Byung-Kyu;Lee, Won-Bae;Lee, Byung-Churl
    • Clinical and Experimental Pediatrics
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    • v.48 no.11
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    • pp.1252-1255
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    • 2005
  • Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.

A Case of Basilar Arterial Thrombosis in Ovarian Hyperstimulation Syndrome (난소 과자극증후군과 동반된 뇌바닥동맥 혈전증)

  • Park, Joon-Cheol;Lim, Su-Yeon;Bae, Jin-Gon;Kim, Jong-In;Rhee, Jeong-Ho
    • Clinical and Experimental Reproductive Medicine
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    • v.35 no.1
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    • pp.83-88
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    • 2008
  • Thromboembolic disease associated with assisted reproductive techniques is considered to be extremely rare but most serious complication. The reasons for this are thought to hypercoagulable state characteristic of OHSS due to high serum levels of estrogen, hemoconcentration and reduced circulating blood volume, but is still unclear. The risk is increased those with rare hypercoagulable conditions such as antiphospholipid antibody syndrome, protein C deficiency, protein S deficiency, antithrombin III deficiency, and those with a personal or family history of thromboembolic disease. The majority of thrombosis reported were venous site but arterial thrombosis mostly intracerebral was reported 5 cases in Korea so far. We present a case of basilar a. thrombosis at 11 days after hCG injection. The patient developed the right hemiparesis, and recovered after intraarterial thrombolysis and transluminal angioplasty. Protein S activity was decreased and vWF antigen was increased. Decreased protein S activity was also found in previous reported 4 cases, so we suggest screening test for protein S in OHSS patients.

A Study on the Effects of the Behavior Problems for the Demented Elderly upon the Stress among Family members (치매 노인의 문제행동이 가족스트레스에 미치는 영향)

  • 마정수;김초강
    • Korean Journal of Health Education and Promotion
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    • v.12 no.1
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    • pp.83-110
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    • 1995
  • The purpose of this study was to investigate the status of the problematic behavior for the demented elderly and the stress among family members, and the effects of the problematic behavior upon the stress in order to offer the basic data for the adult and the elderly health education about dementia. For this purpose, 70 families who were resident in Seoul and Inchon were surveyed by quetionnaires. This was carried out from 26 July, 1994 to 11 September, 1994. Datum was analysed by using SPSS\PC+ including percentage, mean, t - test, ANOVA, Pearson correlation. So, the results of this study were as follows: 1. In view of socia-demographic characteristics, female were 82.9%, and of the female daughters-in-law of the demented elderly were 44.9%. 40th years old were 32.9% and 88.6% wase married. The christian were 34.8%, those who graduated university 47.1%, and those who had a job 32.9%. 2. Of the demented elderly, female were 74.3%, 80 years old were 37.1%, and their average age was seventy-seven point one years old. 66.2% of the elderly has been lived alone and the christian were 27.5%. In addition, those who graduated elementary school were 66.5%. 3. Of the behavior problem for the demented elderly, Activities of the Daily Living(ADL) was the most severe problem. The 2nd was cognitive function problem, the 3th, change of personality, the 4th, emotional disturbance, and the last, misconduct behavior. 4. For the status of behavior problems, females were more severe than male, and 80th years elderly ware the most severe groups. The longer disease period was, the severe problematic behaviors were, and in 4-6 years of the disease period the status was the highest(p<0.05). Those who diagnosed the disease had more severe problems(p<0.001). 5. The orders of the stress among family members caring for the demented elderly in this study were as follows : 1. The deficiency of supporting network 2. Decrease of elderly's cognitive activities 3. Assistance of BADL(Basic Activities of Daily Living) 6. Elderly's abnormal behavior 5. Assistance of IADL(Instrumental Activities of Daily Living), 6. As for the status of the stress among family members, female respondants were higher than male. On the ages, 20th years' stress score were the highest. Daughters-in-law were stressed more than other family members. The longer the time of caring per day was, the highest the status of the stress(p<0.05), 7. Those who caring for female elderly and more than 80 years had more stressed. When the elderly was received the diagnosis, the family members were more stressed. On the disease period, 1-2 years was the highest and after 2 years the status of the stress was decreased and more than 6 years was the lowest(p<0.05). 8. Behavior problems of the demented elderly were closely associated to the stress for family members. Of the problems, change of personality was the most related factor(r = 0.6552). The factors of Basic Activities of the Daily Living(BADL) was most correlated on assistance of Basic Activities of Daily Living (BADL), emotional disturbance the assistance of IADL(Instrumental Activities of Daily Living). Change of personality was most related to the stress of the decrease of cognitive activities and elderly's abnormal behavior. The deficiency of supporting network was most related to misconduct behavior.

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Relationship between iron deficiency anemia and febrile convulsion in infants (영아에서 철결핍 빈혈과 열성경련과의 상관관계)

  • Jun, Youn Soo;Bang, Ho Il;Yu, Seung Taek;Shin, Sae Ron;Choi, Du Young
    • Clinical and Experimental Pediatrics
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    • v.53 no.3
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    • pp.392-396
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    • 2010
  • Purpose : The association between iron deficiency anemia and febrile convulsion in infants has been examined in several studies with conflicting results. Therefore, the authors aimed to evaluate the precise relationship involved. Methods : In this case-control study, the authors assessed 100 children with a diagnosis of febrile convulsion, aged between 9 months and 2 years, during January 2007 to July 2009. The control group consisted of 100 febrile children without convulsion; controls were closely matched to the cases by age, gender, and underlying disease. Results : The mean ages of the febrile convulsion and control group were $16.3{\pm}7.4$ and $15.8{\pm}6.1$ months, respectively, and the two groups had no differences in clinical features. Iron deficiency anemia (Hb <10.5 gm/dL) was more frequent in the febrile convulsion group than in the control group, although there was no statistical significance. Unexpectably, the RDW (red blood cell distribution width) was significantly lower and the MCNC (mean corpuscular hemoglobin concentration) was significantly higher among seizure cases than among the controls (P <0.05). There is no statistical difference between simple and complex febrile groups in the clinical and laboratory profiles. On multiple logistic regression analysis, iron deficiency anemia was more frequent, but the RDW was lower, among the cases with febrile convulsion, compared with the controls. Conclusions : Our study suggests that the iron deficiency anemia is associated with febrile convulsion, and screening for iron deficiency anemia should be considered in children with febrile convulsions.

The Estimated Factors for School Adaptation on School Aged Children by General Characteristics - 5 Elementary Schools - (학령기 아동의 일반적 특성에 따른 학교생활적응정도 예측요인 - 5개 초등학교를 중심으로 -)

  • Han, Sang-Sook;Ji, Eun-Sun
    • Research in Community and Public Health Nursing
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    • v.14 no.4
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    • pp.707-716
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    • 2003
  • Purpose: This study was to examine estimation variables and predicted probability for school-aged children's school adaptation. Methods: The subjects of this study consisted of 614 children. Data were analyzed by logistic regression using SPSS Windows 11.0. Results: 1. Girls adjusted themselves 1.65 times easier than boys, and 5th-and 6th-graders adjusted themselves slightly easier than 4th-graders. Children with monthly pocket money lower than 10,000 won adjust adjusted 2.92 times easier than those with a larger amount of pocket money, unhealthy children adjusted themselves 2.44 times easier than healthy ones, and children with low academic achievement adjusted themselves 2.68 times easier than those with high academic achievements. 2. As for family economic status, children who thought the economic condition of their family poor adjusted themselves 2.41 times easier than those who thought the economic condition of their family fine. As for conversation with people, children conversing with families and relatives adjusted themselves 2.69 times easier and those conversing with friends and others adjusted themselves 2.71 times easier than those conversing with none. Children from normal families adjusted themselves 3.44 times easier than those from deficiency families. 4. The overall prediction rate was 73.9%. Conclusions: It is concluded that nurses, teachers and parents are important in improving school-aged children's adaptation to school life.

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A Clinical Case Study on the Postpartum Depression (산후 우울증 환자 1례에 대한 증례보고)

  • Nam, Se-Hyeon;Lee, Hyun
    • Journal of Haehwa Medicine
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    • v.16 no.1
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    • pp.9-16
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    • 2007
  • Postpartum depression is a kind of serious problem which influences on the postpartum woman, her family and infant. It has been known to be caused by many factors and some depression scales have been used to assess the degree of postpartum depression. Edinburgh postnatal depression scale(EPDS) is simple and efficient method. Because of the difficulty of diagnosis and valuation on the postpartum depression, there has been a few case report on oriental medical treatment. I report one postpartum depression case which was valuated by EPDS and had objective evidence. In this case herbal treatment and acupuncture was efficacious on the postpartum depression. I think, though six month has passed from parturition, there need to be treated after parturition weakness and deficiency point of view.

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Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes

  • Michaeli, Orli;Tabori, Uri
    • Journal of Korean Neurosurgical Society
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    • v.61 no.3
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    • pp.319-332
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    • 2018
  • Germline mutations in cancer causing genes result in high risk of developing cancer throughout life. These cancer predisposition syndromes (CPS) are especially prevalent in childhood brain tumors and impact both the patient's and other family members' survival. Knowledge of specific CPS may alter the management of the cancer, offer novel targeted therapies which may improve survival for these patients, and enables early detection of other malignancies. This review focuses on the role of CPS in pediatric high grade gliomas (PHGG), the deadliest group of childhood brain tumors. Genetic aspects and clinical features are depicted, allowing clinicians to identify and diagnose these syndromes. Challenges in the management of PHGG in the context of each CPS and the promise of innovative options of treatment and surveillance guidelines are discussed with the hope of improving outcome for individuals with these devastating syndromes.

Etv5, a transcription factor with versatile functions in male reproduction

  • Eo, Jinwon;Song, Haengseok;Lim, Hyunjung Jade
    • Clinical and Experimental Reproductive Medicine
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    • v.39 no.2
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    • pp.41-45
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    • 2012
  • Transcription factors govern diverse aspects of cell growth and differentiation as major switches of gene expression. Etv5, a member of the E26 transformation-specific family of transcription factors, has many stories to share when it comes to reproduction. Etv5 deficient mice show complex infertility phenotypes both in males and females. In males, the infertility phenotype exhibited by Etv5 deficiency is sexually dimorphic, and it involves both somatic cells and germ cells. In $Etv5^{-/-}$ female mice, the problem is more complicated by hormonal involvement. This review synthesizes old and new information on this versatile transcription factor-from the inadvertent discovery of its role in the testes to its newly discovered role in maintaining spermatogonial stem cells.

A proteomic approach to identify yeast proteins responding to accumulation of misfolded proteins inside the cells

  • Shin, Yong-Seung;Seo, Eun-Joo;Kim, Joon;Yu, Myeong-Hee
    • Proceedings of the Korean Biophysical Society Conference
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    • 2003.06a
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    • pp.57-57
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    • 2003
  • In growing number of diseases it has been shown that aggregation of specific proteins has an important role in pathogenesis of the disorder. This has been demonstrated in structural details with the liver cirrhosis of ${\alpha}$$_1$-antitrypsin deficiency, and it is now believed that similar protein aggregation underlies many neurodegenerative disorders such as autosomal dominant Parkinson disease, prion diseases, Alzheimer disease, and Huntington disease. ${\alpha}$$_1$-Antieypsin, a member of serine pretense inhibitor (serpin) family, functions as an inhibitor of neutrophil elastase.

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A Study on Social Exclusion of Residents Livng in 'Da-Ka-Gu' Rental Housing and Permanent Rental Apartments (다가구매입임대주택과 영구임대주택 거주자의 사회적 배제 실태조사 연구)

  • Kim, Mi-Hee;Noh, Se-Hee
    • Journal of the Korean housing association
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    • v.22 no.5
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    • pp.91-100
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    • 2011
  • The purpose of this study was to investigate the social exclusion of 'Da-Ka-Gu' rental housing and permanent rental apartments and to provide basic source of their socio-demographic characteristics and actual conditions of social exclusion. Self-administered questionnaires and interviews were carried out with 212 dwellers in 'Da-Ka-Gu' rental housing and permanent rental apartments in the city of Gwangju from July to October of 2010. The main findings are: 1. The social exclusion of physical deficiency dimension composed of income and employment has been found to be the most serious level, compared to all the other dimensions. 2. The social exclusion from health has been found to be the highest level in the dimension of the approach to social rights. The next highest level has been found to be the social exclusions from residential areas and education and service areas. 3. The level of social exclusions from the areas of family relations and social relations, which are in the dimension of social participation, has been found to be next highest to the level of physical deficiency dimension. 4. The level of exclusion from cultural and normative integration has not been found to be of significant difference between the two types of residence in this study. This study of the actual conditions of social exclusion among residents living in 'Da-Ka-Gu' rental housing and permanent rental apartments suggests the necessity and some practical implications for policy measures of social integration for the residents of lowincome housing.