• Title/Summary/Keyword: 결핍증상

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A case of Niemann-Pick disease type A (A형 Niemann-Pick 병 1례)

  • Yu, Ho Yen;Oh, Ji Eun;Park, Jae Sun;Kim, Mi Hyang;Kim, Sin Dong;Jung, Kyung Soon
    • Clinical and Experimental Pediatrics
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    • v.49 no.12
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    • pp.1358-1362
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    • 2006
  • Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made.

Relationship between Internet Game Addiction and Psychiatric Symptoms in a Child and Adolescent Psychiatric Clinic (일 대학병원 소아청소년 정신건강클리닉에 내원한 청소년에서 인터넷게임중독과 정신과적 증상의 관계)

  • Oh, Eun-Jeong;Choi, Sam-Wook;Lee, Hae-Kook;Park, Jang-Ho;Ahn, Joon-Ho;Choi, Ji-Eun;Bhang, Soo-Young
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.25 no.3
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    • pp.136-141
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    • 2014
  • Objectives : The aim of this study was to examine the relationship between internet game addiction and psychiatric symptoms. Methods : A total of 447 adolescents who were recruited from a child and adolescent psychiatric clinic of university hospital completed a self-report questionnaire consisting of Korean Internet Addiction Self-scale (K-scale), Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Korean-Attention-Deficit Hyperactivity Disorder Rating Scale (K-ARS), and Adolescent Happiness Index (AHI). They were classified into three internet user groups, non-addicted group (below or equal to 94), potential risk group (95 to 107) and high risk group (above or equal to 108) according to K-scale total score. Results : Significant mean differences in BDI, BAI, K-ARS, and AHI scores were observed among the three groups. The BDI, BAI and K-ARS scores showed positive correlation with K-score. The AHI score showed negative correlation with K-score. Conclusion : Findings of this study suggest that depression, anxiety, inattention, hyperactivity/impulsivity, and happiness are associated with internet game addiction.

Association of Psychosocial Factors in Developing Childhood Depression and ADHD in a Community Low Income Family Children (지역 저소득층 아동의 우울증상과 주의력결핍-과잉행동증상에서 사회경제적 요소의 관련성)

  • Kim, Seol-Yeon;Ha, Jee-Hyun;Hwang, Won-Sook;Yu, Jae-Hak
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.20 no.2
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    • pp.76-81
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    • 2009
  • Ovjectives: As the attention devoted to children's mental health increases, medical costs and burdens mount as well. In the present study, we evaluated the association between socioeconomic status(SES) and major child psychiatric symptoms. Methods: The subjects of this study were children of recruited from a mental health screening program in the Seoul Sungbuk mental health center over the course of 3 months. To establish the SES of each child, we collected data about each child's medical insurance, years of parental education, household income, family structure and housing. 149 children & parents completed questionnaires including the Childhood Depression Inventory(CDI) and the Korean Attention Deficit Hyperactivity Disorder Rating Scale(K-ARS). Results: The mean K-ARS-P score was $12.1{\pm}11.1$ and the suspected prevalence of ADHD was 20.8%(n=31). The mean cm score was $12.9{\pm}7.9$, and the prevalence of suspected depression was 16.8%(25). Depressive symptoms and ADHD symptoms were both more severe than those observed in a previous epidemiologic study in Korea. Depressive symptoms were more closely associated with family SES status. Conclusion: SES status is one of the most important risk factors in the development of major child psychiatric symptoms. In our study we found that depressive symptoms in particular were most tightly associated with psychosocial factors. Evaluation of the risk factors, early screening and intervention for low SES children would be valuable mental health management tactics to implement in a community mental health system.

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Budd-Chiari Syndrome Due to Antithrombin, Protein C and Protein S Dficiency and the Complete Obstruction of SVC (항트롬빈, C 단백, S 단백 결핍에 의한 Budd-chiari syndrome과 상대정맥 폐색)

  • 김태윤;이원용;홍기우;김응중;신윤철;김건일;임종윤;유규형;최영진
    • Journal of Chest Surgery
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    • v.35 no.3
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    • pp.239-243
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    • 2002
  • In this case, a 39 year-old man was admitted with Budd-Chiari syndrome associated with complete superior vena cava(SVC) obstruction causing general edema and hepatic failure. Conservative medical therapy was failed. And after the radiologist failed to invasive procedure of balloon dilatation, we attempted the inferior vena cava to right atrium bypass graft. Operation was done through median sternotomy and extended vertical oblique abdominal incision. A 24 mm Dacron tube was placed from the inferior vena cava just below the left renal vein to the right atrium without using the cardiopulmonary bypass pump. The patient's postoperative course was uneventful without signs of bleeding or any other complications. We used anticoagulants at the postoperative first day. At the postoperative 26th day, we performed abdominal Doppler sonography and we confirmed that the graft patency was good. The patient was discharged with SVC obstructive symptoms but we noticed relief of SVC obstructive symptoms in the course of follow-up.

A Case of Hunter Syndrome Diagnosed at Age of 2.5 Year (2.5세에 진단된 헌터증후군 1례)

  • Choi, Miran;Kwun, Younghee;Jin, Dongkyu;Lee, Jieun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.178-181
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    • 2014
  • Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme, iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans within lysosomes of many organs and tissues. Since the enzyme replacement therapy was approved and available in the treatment of MPS I, II, VI, early diagnosis and early therapy can bring the better prognosis of disease and the better quality of life in patients. We described a 2.5 year old child presented with frequent otitis media and developmental delay including speech impairment, who was diagnosed as Hunter syndrome with IDS NM_000202.5:c. 263G>A(p.Arg88His) mutation.

A Case with Tyrosinemia Type I Detected by Neonatal Screening Test (신생아 대사이상 선별검사 이상으로 진단된 I형 타이로신혈증)

  • Sohn, Young Bae;Lee, Hae-Sang;Lee, Jang Hoon;Hwang, Jin Soon
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.12 no.2
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    • pp.99-103
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    • 2012
  • Tyrosinemia type I is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation. Clinical symptoms include progressive liver damage with liver failure, coagulopathy, hypophosphataemic rickets, renal tubular dysfunction and a high risk of hepatocellular carcinoma. If left untreated, the affected infants may die from liver failure within the first year of life. PharmacoloIcal therapy with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) has offered an effective therapeutic option in addition to dietary restriction of tyrosine and phenylalanine. As prognosis of tyrosinemia type I is improving with early diagnosis and early treatments, it meets the criteria for a condition that would benefit from newborn screening. We report a case of tyrosinemia type I diagnosed by newborn screening and successive biochemical analysis of plasma and urine, treated by dietary restriction and NTBC.

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Effect of Plant Extract [FGF271] on Estrogen Replacement (식물유래 추출물(FGF271)의 여성호르몬 대체 효과)

  • 김재수;박준홍;조한성;박점석;홍억기
    • KSBB Journal
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    • v.17 no.4
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    • pp.409-415
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    • 2002
  • A certain group of phytochemicals such as isoflavone have been proven to act as a phytoestrogen. After thorough the study of different bibliographic herbs excluding soybeans, dates, pomegranates, and other publicized plants, three different edible herbs by Korean Food Regulation were extracted for the animal study on the effect of estrogen replacement. The herbal extract(FGF271) has been orally administered into 51 weeks old partial ovariectomized rats for 5 weeks with the different dosages of 100 and 1,000 mg/kg, respectively. It was observed that 1) serum estrogen level was increased in both 100 and 1,000 mg/kg group, 2) the distension of uterus was made dose dependently and significantly different in 1,000 mg/kg group (p.0.05) from control in the gross findings, 3) the weight of uterus was increased in 1,000 mg/kg group, and 4) the action on reproductive tissues was clear in the microscopic findings in terms of hyperplasia of endometrial epithelial cell, cystic change of submucosa, dilatation of uterus (significantly increased in 1,000 kg/mg), and follicular cystic changes in ovary. As a result, FGF271 seemed to act as a phytoestrogen by inducing the change in ovary and uterus and by increasing the serum estrogen concentration.

THE CLINICAL FEATURES OF THREE SUB-DIAGNOSED GROUPS OF TIC DISORDERS AND FACTORS RELATED WITH ILLNESS SEVERITY (틱 장애의 진단분류에 따른 임상특징과 질환 심각도와 연관된 변인들)

  • Jung, Hee-Yeon;Hwang, Jeong-Min;Chung, Sun-Ju
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.12 no.1
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    • pp.115-124
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    • 2001
  • Objective:The purpose of this study was to compare the clinical features of children with three subdiagnoses of tic disorder(transient tic disorder(TTD), chronic tic disorder(CTD) and Tourette’s disorder (TD)) and to exam the factors related with illness severity of them. Method:Subjects were 69 children who met DSM-IV criteria for tic disorder and 43 control children. All subjects were investigated demographic and clinical factors related to tic. The severity of tic was assessed with the Yale Global Tic Severity Scale(YGTSS) in tic disorder children. The Child Behavior Checklist(CBCL) was accomplished by parents of all subjects. Results:Children with TTD had not only shorter duration of tic symtoms but also milder tic severity and impairment than those with CTD and TD. They also had significantly lower scores on most CBCL subscales than children with CTD and TD, while they were similar with controls in all the CBCL subcale scores except aggressive behavior. Children with CTD and those with TD were similar to each other in clinical variables except number of tic symptom and scores on CBCL social problem subscale. The interference and intensity of motor tic symptoms and duration of tic symptoms were significant predictors of global impairment score on YGTSS, while the presence of comorbid ADHD was a preictor of the total behavior problem score of CBCL. Conclusion:These findings indicate that duration of tic symptoms and the presence of comorbid ADHD as well as the severity of tic symptoms strongly associated with the illness severity of children with tic disorder. These results also suggest that those clinical factors may be more important for assessing the severity of illness and determining the treatment strategy than the sub-diagnosis itself in children with tic disorder.

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A Case Study on the Iron Deficiency Anemia (철겹핍성 빈혈 치험(治驗) 1례(例) 보고(報告))

  • Lee, Yoon-Hee;Kim, Jong-Dea;Hwang, Hui-Jeung
    • The Journal of Internal Korean Medicine
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    • v.21 no.4
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    • pp.655-660
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    • 2000
  • We extended to find out the effect of serveral kinds of herbal medicion that administated to the patient suffer from iron deficiency anemia, that was prescribed according to differentiation of syndromes. Iron deficiency anemia is generlly differentiated as defiency of Ki and blood, hypofunction of the spleen and stomach, and insufficiency of the spleen and kidney in orinetal medicine. This patient was differentiated as defiency of Ki and blood. hypofunction of the spleen and stomach. So we prescribed Hyangsayangwi-tang, Ickibohyoul-tang and Ickibohyoul-tang ga Antler for the patient in turn. When administated Hyangsayangwi-tang and Ickibohyoul-tang, there was a little improvement in symptom but no improvement in hemonalysis. When administrated Ickibohyoul-tang ga Antler there was dominent improvement in both of symptom and hemonalysis. From this case. it is thought that added Antler-tonifying recipe is very effective to iron deficiency anemia and that more studies and examinations are needed in futher.

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Emotion Training: Image Color Transfer with Facial Expression and Emotion Recognition (감정 트레이닝: 얼굴 표정과 감정 인식 분석을 이용한 이미지 색상 변환)

  • Kim, Jong-Hyun
    • Journal of the Korea Computer Graphics Society
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    • v.24 no.4
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    • pp.1-9
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    • 2018
  • We propose an emotional training framework that can determine the initial symptom of schizophrenia by using emotional analysis method through facial expression change. We use Emotion API in Microsoft to obtain facial expressions and emotion values at the present time. We analyzed these values and recognized subtle facial expressions that change with time. The emotion states were classified according to the peak analysis-based variance method in order to measure the emotions appearing in facial expressions according to time. The proposed method analyzes the lack of emotional recognition and expressive ability by using characteristics that are different from the emotional state changes classified according to the six basic emotions proposed by Ekman. As a result, the analyzed values are integrated into the image color transfer framework so that users can easily recognize and train their own emotional changes.