• 제목/요약/키워드: inborn

검색결과 130건 처리시간 0.03초

한의학(韓醫學)과 유학(儒學)에 나타난 심(心)에 대한 고찰(심경(心經)을 중심으로) (Study about heart by oriental medicine and confucianism(center point by simkyung(心經)))

  • 구병수
    • 동의신경정신과학회지
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    • 제9궈1호
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    • pp.101-122
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    • 1998
  • As a result I get the fallowing conclusions;1. Oriental medicine and confucianism have similar point about heart because oriental medicine and confucianism have same philosophical backing 2. Oriental physitian read the books complated by confucianism by confuncianism physitian because racial characterristics are based on confucian thoughts, and my race make much of the heart. So to use confucian thought to phychotheraphy need to study confucian In(仁) thought.3. Thought that oriental medicine refers man as small university and thought that man and heaven are same based on the ethical doctrine that man's inborn nature is good are same connection. but oriental medical aim is agreement external features of man with university, confucian aim is agreement heart of man with university4. Confucianism will be used in phychotheraphy because phychotheraphy require close relationship between psychiatrist and patient and confucianism gives importance to man's relationship5. Oriental medical phychotheraphy deal prevention and cure at same time, but, confucianism deal prevention entirely. so confucianist target a saint by training at ordinary times.

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국내 시판 영유아 조제유의 종류 및 적응증의 최신 지견 (Recent Updates of Commercially Available Infant Formulas in Korea)

  • 엄지현
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제11권sup1호
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    • pp.7-14
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    • 2008
  • Special formulas are those in which one of the basic nutrients (usually the protein and/or carrbohydrate) has been changed to an alternative nutrient that an individual baby may better tolerate. The following are specialized formulas : Soy formulas, hypoallergenic formulas, Lactose free formulas, Premature baby formulas, Low phosphate formulas, Formulas for inborn errors of metabolism. Less is known about the long-term effects of feeding babies these special formulas and each formula has its unique properties and indications. The pediatrician must acquaint themselves with all commercially available infant formulas so as to provide the parent with reliable and unbiased information about them.

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고속화차용 현가장치 적정 설계변수 선정에 관한 연구 (A study to determine the Design parameters of high speed freight wagon)

  • 김남포;김종호
    • 한국철도학회:학술대회논문집
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    • 한국철도학회 2000년도 추계학술대회 논문집
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    • pp.484-490
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    • 2000
  • The freight wagon with weld fabricated 1-piece bogies, which was developed to increase operating speed, reveals its difficulties in maintenance. The weld-fabricated bogies were composed of two-stage coil spring and dry friction damping mechanism. The inborn wear parts and rather complicated structure mattes bogie maintenance difficult. In order to relieve this difficulties, the application of maintenance free rubber suspension is proposed by bogie maunfacturer, Taeyang Precision Limited. This study was conducted to determine design parameters of proposed rubber suspension by means of vehicle dynamic simulation and parametric study. The target critical speed of bogie was set over 150km/h for the preparation of further speed-up of freight wagon.

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분자 유전학적 검사로 진단된 Ornithine Transcarbamylase Deficiency 1 예 (A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency)

  • 이은실
    • Journal of Yeungnam Medical Science
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    • 제24권2호
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    • pp.322-328
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    • 2007
  • Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

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Lesch-Nyhan 증후군을 가진 소아의 체외충격파신쇄석술을 위한 전신마취 경험 (General Anesthesia for Extracorporeal Shockwave Lithotripsyin Child with Lesch-Nyhan Syndrome)

  • 박상진;권일치;이원기;이덕희
    • Journal of Yeungnam Medical Science
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    • 제25권1호
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    • pp.78-83
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    • 2008
  • Lesch-Nyhan syndrome is an inborn error of purine metabolism resulting from hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) deficiency and leading to excess purine production and uric acid over-production. It is a very rare X-linked recessive disorder, characterized by movement disorder, cognitive deficits, and self-injurious behavior. However, because of the high incidence of calculi, patients may present for surgery of urinary tract, and have increased risk of difficult intubation, aspiration pneumonia, renal insufficiency or sudden death. We report the case of a 5-year-old boy with Lesch-Nyhan syndrome who underwent successive extracorporeal shockwave lithotripsy under general anesthesia.

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대학 순수교양수학에 대한 수학적 신념 연구 (Study on Mathematical Belief about Liberal art subject of Mathematics)

  • 김윤민
    • East Asian mathematical journal
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    • 제32권2호
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    • pp.175-192
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    • 2016
  • This study aimed to understand the needs of changes in the teaching-learning environment in the university and to develop the liberal art subject of mathematics. The changes of mathematical belief in the university students were investigated to understand how the liberal art subject of mathematics affected them related to mathematics. Upon the study results, the significant changes were occurred from the utility factor on the subject of mathematics in mathematical belief, the importance factor of the answers in the teaching-learning belief, teaching activity factor of the teachers, and inborn capability factor in the belief on the self-concept. The meaningful learning environment and teaching method for the liberal art subject of mathematics are suggested further by these results.

Aesthetic Facial Correction of Cleidocranial Dysplasia

  • Hwang, So-Min;Park, Beom;Hwang, Min-Kyu;Kim, Min-Wook;Lee, Jong-Seo
    • 대한두개안면성형외과학회지
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    • 제17권2호
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    • pp.82-85
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    • 2016
  • We report two cases of cleidocranial dysplasia, which was managed without significant craniofacial osteotomy. A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis. The fact that they have an identically deformed face implied a genetic basis. In both patients, radiologic evaluation revealed the underdeveloped maxilla, persistent fontanelle opening, and cleidal aplasia. Clinical findings and radiologic studies were consistent with the diagnosis of cleidocranial dysplasia. Both patients underwent forehead plasty via bicoronal approach, augmentation rhinoplasty using tip plasty, and epicanthoplasty. In addition, the mother underwent malar augmentation using Medpor implantation and reduction genioplasty. The patients did not experience any postoperative complication and remained satisfied with the operation at 6-year follow-up.

Long-Term Clinical Course of a Korean Patient with Chronic Neuropathic (type III) Gaucher Disease

  • Lee, Jun Hwa
    • Journal of Interdisciplinary Genomics
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    • 제1권2호
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    • pp.15-18
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    • 2019
  • Gaucher disease (GD) is an autosomal recessive inborn error of metabolism resulting from a deficiency in ${\beta}$-glucocerebrosidase (GBA) activity that leads to the accumulation of glucocerebroside in macrophages in multiple organs, such as the bone marrow, liver, spleen, and brain. GD can be classified into three clinical types: type 1 (non-neuropathic form, OMIM #230800); type II (acute neuropathic form, OMIM #230900); and type III (chronic neuropathic form, OMIM #231000). Type III is the subacute form of neuropathic GD. The best available treatment for GD is long-term enzyme (imiglucerase) replacement therapy (ERT) performed every two weeks. This report describes the long-term clinical course of a patient with type III GD who was treated with ERT for 18 years.

β-ureidopropionase Deficiency

  • Jun Hwa Lee
    • Journal of Interdisciplinary Genomics
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    • 제5권1호
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    • pp.5-11
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    • 2023
  • β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.