• 제목/요약/키워드: Family Deficiency

검색결과 137건 처리시간 0.033초

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

  • 박상준;서진순;정민호;이희진;서병규;이원배;이병철
    • Clinical and Experimental Pediatrics
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    • 제48권11호
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    • pp.1252-1255
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    • 2005
  • TBG 결핍증은 X 염색체 장완의 TBG 유전자의 돌연변이에 의해서 발생하며, 낮은 총 $T_4$와총$T_3$, 정상 유리 $T_4$와 유리 $T_3$, 정상 TSH 농도를 특징으로 한다. 혈청 티록신글로불린 농도에 따라 완전 TBG 결핍증과 부분 TBG 결핍증으로 나눌 수 있으며, 적절하게 진단하지 못하면 불필요한 검사나 치료의 요인이 될 수 있다. 저자들의 완전 TBG 결핍증으로 진단된 2명의 남아에 대하여 TBG 유전자 분석을 시행하였다. 대상아들은 신생아 선별검사에서 측정된 낮은 총 $T_4$ 농도 때문에 내원하였다. 진찰 소견은 정상이었으며, 갑상선 기능 검사 상 유리 $T_4$, TSH 농도는 정상이었다. 방사면역측정법에 의한 혈청 TBG는 측정되지 않았다. 중합효소연쇄반응을 이용하여 4개의 TBG 유전자 엑손을 증폭한 후 자동염기서열분석을 시행하였다. 두 대상아에서 모두 엑손 4의 352번째 codon의 첫 번째 단일 뉴클레오티드 C의 결손에 의한 frameshift 돌연변이로 374번째 codon에 termination codon이 나타난 것을 확인하였다. 대상아의 어머니들에게서는 돌연변이 대립유전자와 정상 대립유전자의 이형접합체를 확인하였다. 한국인 TBG 결핍증의 역학과 유전적 특성을 규명하기 위한 더 광범위한 연구가 필요할 것으로 생각된다.

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

  • 박준철;임수연;배진곤;김종인;이정호
    • Clinical and Experimental Reproductive Medicine
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    • 제35권1호
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    • pp.83-88
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    • 2008
  • 보조생식술 시행 후 혈전색전증의 발생은 매우 드물기는 하나 치명적인 합병증이다. 과배란 유도시 중증 난소 과자극 증후군은 $0.1{\sim}0.5%$에서 발생하며, 중증 난소 과자극증후군 환자의 128명 중 한 명에서 혈전색전증이 발생하는 것으로 알려져 있다. 발병기전으로는 과배란 유도에 따른 고에스트로젠 혈증에 의한 혈액응고인자의 변화, 혈관 투과성의 증가에 따른 혈액농축 및 순환혈액의 감소 등을 원인으로 추정하고 있으나 그 정확한 기전은 알려진 바가 없다. 또한 thrombophilia나, 혈전색전증의 과거력 및 가족력이 있는 경우 발병율이 증가한다. 혈전증의 발생 부위는 정맥이 67%이나, 33%는 동맥에 발병하며 주로 뇌동맥에 발생된다고 보고되었다. 본 예는 3년간의 이차성 불임을 주소로 내원하여 시험관 아기시술을 시행하였으며 hCG 투여 8일 후 난소 과자극증후군이 중등도로 발생하였다. hCG 투여 후 11일째 갑작스런 의식 소실 및 우측 상지의 운동장애가 발생하여 시행한 MRI상 뇌바닥동맥 (basilar a.) 혈전증으로 진단되었으며, 혈관내 혈전 용해술 및 풍선 확장술 시행후 재관류에 성공하였다. 시술 2일 후 의식 및 운동장애는 완전히 회복되었으며 시술 7일 후 말더듬증 역시 회복되어 후유장애 없이 건강한 상태이다. Thrombophilic study상 Protein S결핍 소견을 보였고, 또한 vWF-associated Ag.이 증가된 양상을 보였다. 지금까지 국내에서 난소 과자극증후군 이후에 발생한 뇌경색은 5예가 보고되었으며, 이중 4예에서 protein S deficiency 소견을 보였으므로 선별 검사로 유용할 것으로 사료된다. 저자 등은 3년간의 이차성 불임을 주소로 내원한 33세 환자에서 시험관 아기시술시 hCG 투여 11일째에 발생한 뇌바닥동맥 혈전증을 간단한 문헌 고찰과 함께 보고하는 바이다.

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

  • 마정수;김초강
    • 보건교육건강증진학회지
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    • 제12권1호
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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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영아에서 철결핍 빈혈과 열성경련과의 상관관계 (Relationship between iron deficiency anemia and febrile convulsion in infants)

  • 전윤수;방호일;유승택;신새론;최두영
    • Clinical and Experimental Pediatrics
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    • 제53권3호
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    • pp.392-396
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    • 2010
  • 목 적 : 철 결핍 빈혈과 열성경련은 6개월-2세 사이에 호발하며 철 결핍 빈혈은 영아에서 다양한 신경학적 장애를 일으키고 열성경련은 간질과 관련이 될 수 있다. 그러나 이들의 연관관계에 대해서는 상반된 보고가 있어 그 관련성을 규명하고자 본 연구를 시행하였다. 방 법 : 2007년 1월 1일부터 2009년 7월 31까지 원광대학교병원 소아청소년과에 입원치료 받은 9개월에서 2세사이의 발달 지연이나 신경학적 결함 및 중추신경계 감염이 없는 열성 경련 환아 100명과 열성 경련이나 이전의 경련 병력이 없이 발열 증세를 보인 100명을 대조군으로 선정하여 의무 기록지를 이용하여 후향적으로 조사하였다. 결 과 : 열성경련 군과 대조군, 단순 열성경련 군과 복합 열성 경련 군 사이의 평균 연령, 성별, 원인질환별 차이는 없었다. 복합 열성경련 군에서 단순 열성경련 군에 비해 총 경련 횟수, 내원시 경련 시간과 횟수가 의의 있게 높았으며, 경련 시 최고 체온과 전체 열 발생 기간은 높았으나 통계적 차이는 없었다. 철 결핍 빈혈은 열성경련 군에서 39%로 대조군의 28%에 비해 많았으나 의미 있는 차이는 없었다. 평균 적혈구 용적, 평균 적혈구 혈색소는 열성경련 군에서 높았으나 차이는 없었고, 열성경련 군에서 평균 적혈구 혈색소 농도는 의미 있게 높고 적혈구 분포 폭은 낮았다. 단순 열성경련 군과 복합 열성경련 군 사이에는 혈액학적 소견의 차이는 없었다. 단변량 분석에서 P 값 0.010 미만인 몇가지 인자들의 다변량 로지스틱 회귀분석을 시행한 결과 열성경련 군에서 빈혈의 빈도가 의미 있게 높았다. 결 론 : 열성경련과 철 결핍 빈혈이 상호 관련성이 비록 단변량 분석 시에는 의미가 없었으나 다변량 분석에서 밀접한 관련성을 보여 주어 열성경련의 재발이나 악화를 막기 위해 적극적인 빈혈에 대한 평가와 치료가 필요할 것으로 사료된다.

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

  • 한상숙;지은선
    • 지역사회간호학회지
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    • 제14권4호
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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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산후 우울증 환자 1례에 대한 증례보고 (A Clinical Case Study on the Postpartum Depression)

  • 남세현;이현
    • 혜화의학회지
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    • 제16권1호
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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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    • 제61권3호
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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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    • 제39권2호
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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
    • 한국생물물리학회:학술대회논문집
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    • 한국생물물리학회 2003년도 정기총회 및 학술발표회
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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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다가구매입임대주택과 영구임대주택 거주자의 사회적 배제 실태조사 연구 (A Study on Social Exclusion of Residents Livng in 'Da-Ka-Gu' Rental Housing and Permanent Rental Apartments)

  • 김미희;노세희
    • 한국주거학회논문집
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    • 제22권5호
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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.