• 제목/요약/키워드: congenital disorders

검색결과 130건 처리시간 0.024초

결핵성 파괴폐에 의한 폐동맥 고혈압 환자에서 발견된 근위부 폐동맥 혈전증 1예 (A Case of Pulmonary Arterial Thrombosis in a Patient with Tuberculous-destroyed Lung and Pulmonary Hypertension)

  • 이지은;김정현;강민경;박현정;이지현;김은경;이영경;정혜철
    • Tuberculosis and Respiratory Diseases
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    • 제64권1호
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    • pp.28-32
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    • 2008
  • 저자들은 결핵성 파괴폐 환자에서 추적관찰 중 급성 호흡곤란을 주소로 내원하여 주폐동맥 혈전증으로 진단된 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

소아 추나에 대한 국내·외 연구 동향 (Domestic and Foreign Research Trend on the Pediatric Chuna Treatment)

  • 이진화;한재경;김윤희
    • 대한한방소아과학회지
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    • 제29권4호
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    • pp.67-76
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    • 2015
  • Objectives The purpose of this review is to investigate the domestic and foreign studies of pediatric Chuna treatment and propose the directions of future studies and clinical applications. Methods We searched for the study at RISS, KISS, DBPIA, Pubmed, CNKI by keywords, '추나', 'Osteopathic', 'Chiropractic', 'Manipulation', '推拿', '導引', '按摩', After 2010. Results 1. Selected 3 domestic studies were categorized as 1 survey study and 2 case reports. Selected 41 foreign studies from Pubmed were categorized as 15 systemic reviews, 8 survey studies, 12 case reports and 6 control studies. Selected 82 foreign studies from CNKI were categorized as 10 systemic reviews, 22 case reports and 50 control studies. 2. 2 clinical domestic studies researched on idiopathic Scoliosis. The foreign clinical studies from Pubmed are 18 cases, and those studies were categorized into Premature baby care (3), Infant colic (2), ADHD (2), Congenital talipes equinovarus (1), Somatic dysfuntion (1), Nonsynostotic occipital plagiocephaly (1), Conversion disorder (1), Lower back pain (1), Chronic bilateral dorsal foot pain and stiffness (1), plantar fasciitis (1), Migraine headaches (1), Cyclic vomiting syndrome (1), Acute otitis media (1) and Cerebral palsy (1). The other 72 foreign clinical studies were from CNKI, and they studied 39 different diseases. Systematically, they studied about digestive diseases (25), respiratory diseases (20), fever (6), musculoskeletal diseases (5), nervous system diseases (5), dermatology diseases (2) and other disease states. The Chuna treatment was used in variety of studies. 3. 2 clinical domestic studies adopted techniques of Osteopathy Chuna. The foreign clinical studies from Pubmed adopted techniques of Osteopathic manipulation (10) and Chiropractic manipulation (8). The other foreign clinical studies from CNKI adopted techniques of Acupressure (69), Abdominal manipulation (23), Spinal manipulation (21), Thoracic manipulation (11), Traction manipulation (2), Muscular manipulation (2), Squeezing Sha manipulation (1), Spine correction (1), Joint manipulation (1) and Fascia manipulation (1). Conclusions In addition to musculoskeletal disorders, variety of pediatric diseases could be treated with Chuna treatment instead of acupuncture.

일상 생활 중의 나쁜 자세에 따른 흉·요추 관절의 기구학 해석 (Kinematic Analysis of Thoraco-Lumbar Spine in Bad Postures During Daily Life)

  • 한아름;정지인;풍균;김윤혁
    • 대한기계학회논문집B
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    • 제36권11호
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    • pp.1105-1110
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    • 2012
  • 척추는 인간의 근골격계 건강에 큰 영향을 미치는 신체 부위 중 하나이다. 최근에 고령화 사회에 진입하게 되면서 요통과 같은 척추 질환이 급속하게 증가하고 있다. 이러한 척추 질환의 요인에는 선천적인 척추 장애나 스포츠 및 교통사고의 부상뿐만 아니라 일상생활에서 반복적으로 취하는 나쁜 자세도 포함된다. 잘못된 척추 자세는 척추 디스크에 압력을 주어 퇴행성 변화를 가져옴으로써 척추를 변형시키고 척추질환을 일으킨다. 따라서 본 연구에서는 여러 나쁜 자세를 취했을 때 흉추와 요추 관절의 3 차원 관절 각도를 분석하였다. 그 결과로부터 일상생활에서의 나쁜 자세가 굽힘/신전, 측면 굽힘, 축 회전 방향으로 척추 관절에 각도 변형을 일으키고 정상범위에서 벗어날 수 있음을 알 수 있었다. 향후 연구로써 척추관절의 각도변화가 디스크와 인대 및 근육 등에 미치는 영향에 대한 연구가 필요하다 생각된다.

The Relationship Between Ankle Muscles and An EMG-Based Physically Interactive Game

  • Ko, Yu-Min;Park, Seol;Lee, Ho-Cheol;Lim, Chang-Hun;Park, Ji-Won
    • The Journal of Korean Physical Therapy
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    • 제27권6호
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    • pp.381-385
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    • 2015
  • Purpose: This study was to identify the relationship between the game score and muscle strength in order to elucidate whether the obtained score for the dorsiflexor and plantar flexor muscles in the ankle joint using an EMG-based interactive game system can reflect muscle strength as measured conventionally. Methods: Forty adults were enrolled in the present study. They had no congenital deformities, and no neurological or orthopedic disorders in the 6 months prior to the start of the study. The Biodex were used to measure the isokinetic concentric maximal strength of the plantar flexor and dorsiflexor muscles in the ankle joint. EMG electrodes were attached to the tibialis anterior and gastrocnemius. Results: (1) There was a positive relationship between the obtained game score by the plantar flexor (sPF) and muscle strength of the plantar flexor (tPF) and dorsiflexor (tDF). In addition, the tPF affected the sPF, but the tDF did not. Thus, the higher the tPF, the higher the sPF. (2) There was no relationship between the obtained game score of dorsiflexor (sDF) and tPF or tDF. In addition, neither the tDF or tPF affected the sDF. Conclusion: The game score had a relationship with muscle strength, which is related to ankle instability and re-impairment. Thus we suggest that this game system can be used to predict the degree of weakness of muscle strength.

한국의 신생아에서 선천성 대사이상 Screening에 관한 역학조사 (Epidemiological Survey on Mass Screening for Inborn Errors of Metabolism)

  • 이재상;최철석;최규순;이무주;두화선;강상훈
    • 보험의학회지
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    • 제18권
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    • pp.107-110
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    • 1999
  • The disorders of congenital metabolic errors causing mental retardation can be prevented by early diagnosis and treatment. We analysed 144,000 neonatal blood samples for phenyketonuria(PKU), maple syrup urine disease(MSUD), homocystinuria(HCU) and histidinuria(HE) by bacterial inhibition method, and galactosemia(GAL) by Paigen method. In our survey, the positive were 4 samples in PKU(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), 8 samples in MSUD(4mg/dl;2, 6mg/dl;2, 8mg/dl;3, 10mg/dl;1), 4 samples in HCU(4mg/dl;2, 6mg/dl;2), 4 samples in Galactosemia(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), respectively. while, no one was positive in HE. The frequncy rate were 1/36,000 for PKU, HCU and GAL, 1/18,000 for MSUD, respectively. But those for HE couldn't be detected in our survey. In this study, the hightest frequency rate was 1/18,000 of MSUD, following were 1/36,000 for PKU, HCU and GAL, respectively. As results our data, it is our opinion that neonatal screening should be performed in terms of national policies for ealy diagnosis and theraphy.

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Mechanisms of Myotonic Dystrophies 1 and 2

  • Lubov, Timchenko
    • The Korean Journal of Physiology and Pharmacology
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    • 제9권1호
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    • pp.1-8
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    • 2005
  • Myotonic Dystrophies type 1 and 2 (DM1/2) are neuromuscular disorders which belong to a group of genetic diseases caused by unstable CTG triplet repeat (DM1) and CCTG tetranucleotide repeat (DM2) expansions. In DM1, CTG repeats are located within the 3' untranslated region of myotonin protein kinase (DMPK) gene on chromosome 19q. DM2 is caused by expansion of CCTG repeats located in the first intron of a gene coding for zinc finger factor 9 on chromosome 3q. The CTG and CCTG expansions are located in untranslated regions and are expressed as pre-mRNAs in nuclei (DM1 and DM2) and as mRNA in cytoplasm (DM1). Investigations of molecular alterations in DM1 discovered a new molecular mechanism responsible for this disease. Expansion of un-translated CUG repeats in the mutant DMPK mRNA disrupts biological functions of two CUG-binding proteins, CUGBP and MNBL. These proteins regulate translation and splicing of mRNAs coding for proteins which play a key role in skeletal muscle function. Expansion of CUG repeats alters these two stages of RNA metabolism in DM1 by titrating CUGBP1 and MNBL into mutant DMPK mRNA-protein complexes. Mouse models, in which levels of CUGBP1 and MNBL were modulated to mimic DM1, showed several symptoms of DM1 disease including muscular dystrophy, cataracts and myotonia. Mis-regulated levels of CUGBP1 in newborn mice cause a delay of muscle development mimicking muscle symptoms of congenital form of DM1 disease. Since expansion of CCTG repeats in DM2 is also located in untranslated region, it is predicted that DM2 mechanisms might be similar to those observed in DM1. However, differences in clinical phenotypes of DM1 and DM2 suggest some specific features in molecular pathways in both diseases. Recent publications suggest that number of pathways affected by RNA CUG and CCUG repeats could be larger than initially thought. Detailed studies of these pathways will help in developing therapy for patients affected with DM1 and DM2.

두개조기유합증, 안와격리증, 안구돌출증 환자의 동시 교정 치험례 (Experience of Single Stage Treatment of Caniosynostosis, Hypertelorism, Exophthalmos Patient)

  • 정철훈;은석찬;서동국;조우성;박세혁
    • Archives of Plastic Surgery
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    • 제33권2호
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    • pp.237-240
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    • 2006
  • The simultaneous correction of the hypertelorism and exophthalmos combined with craniosynostosis is very rarely performed operative procedures in the world. The craniosynostosis is the congenital anomaly that designates premature fusion of one or more sutures in either cranial vault or cranial base. Hypertelorism is not a distinct clinical syndrome in itself, but is a physical finding secondary to facial and cranial maldevelopment and it is defined as a increase in the distance between the medial orbital walls. Exophthalmos can occur following the decrease in the size of the orbit in patients with developmental skeletal disorders such as craniofacial synostosis. The authors experienced 9-year-old male patient, who has complex cranio-facial abnormality. The craniosynostosis was oxycephaly type and primary fronto-orbital advancement surgery had been performed in other hospital. The abnormal cranial vault combined with hypertelorism and exophthalmos due to maldeveloped both orbital walls. Surgical correction was obtained by various cranio-fronto-orbital remodeling technique such as calvarial bone craniotomy, fronto-orbital advancement, paramedian resection, medial canthopexy, Tessier-Wolfe three wall orbital expansions. We achieved a quite satisfactory result both functionally and aesthetically in a complex cranio-facial deformity patient by combination and modification of previously developed various cranio-facial plasty technique and hereby report the case with brief discussion and review of literature.

기관지 천식과 편도 증식증 환자에서 상악 정중부 과잉치 발치 전 포크랄과 케타민 투여 진정요법 시 발생된 기도폐쇄와 호흡장애 -증례 보고- (Airway Obstruction and Respiratory Distress Owing to Sedation by use of Chloral Hydrate & Ketamine Before Extraction of the Mesiodens in Patient with Bronchial Asthma & Tonsillar Hyperplasia -A Case Report-)

  • 최영수;강상훈;김문기;이천의;유재하
    • 대한치과마취과학회지
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    • 제10권1호
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    • pp.34-44
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    • 2010
  • The causes for airway obstruction include foreign body aspiration, congenital structural abnormalities of the airway, infection, etc. And the potential causes of acute respiratory distress contain many situations, like hyperventilation, vasodepressor syncope, asthma, etc. A major factor that leads to the exacerbation of respiratory disorders is undue stress, either physiologic or psychologic. Psychologic stress in dentistry is the primary factor in the exacerbation of preexisting medical problems. Adequate pretreatment medical and dental evaluation of the prospective patient can often prevent respiratory problems from developing. The dentist can modify patient management to minimize the risk of exacerbating these conditions. When dental anxiety is a major factor, the use of psychosedative procedures and other stress-reduction techniques should also be considered. This is the report of a children case of airway obstruction and respiratory distress owing to sedation complication by use of Chloral hydrate and Ketamine before extraction of the mesiodens in a patient with bronchial asthma and tonsillar hyperplasia. After these situations, the patient was consulted & referred to the department of Pediatrics and Otorhinolaryngology.

에드워드 증후군 환아의 증례보고 (EDWARDS SYNDROME : REPORT OF A CASE)

  • 박지은;김승오;김종수
    • 대한소아치과학회지
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    • 제35권2호
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    • pp.319-323
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    • 2008
  • 에드워드 증후군은 18번 세염색체(trisomy)성 질환으로 신체의 모든 기관에 다수의 영향을 주며 정신 지체, 발육 지연, 호흡 곤란, 선천성 심장 질환 등의 전신 질환과 손가락의 굴곡변형과 족부후방돌출(rocker-bottom feet)의 소견을 보인다. 산모가 에드워드 증후군 환아를 임신했을 경우 양수과다, 작은 태반, 단일 제대 동맥의 소견을 보인다. 에드워드 증후군을 가진 환아는 생존율이 매우 낮다. 절반이 자궁 내에서 사망하며, 출생아의 50%는 생존율이 2개월이고, $5{\sim}10%$는 생존율이 1년 정도이다. 에드워드 증후군을 가진 환아가 충치 치료를 주소로 내원하였다. 환아의 전신 질환과 심장 수술 병력, 저체중, 기도확보 유지가 어려운 점을 고려하여 전신마취 하에 치과 치료를 시행하였다. 저자는 에드워드 증후군 환아의 치과 치료 후 다소의 지견을 얻었기에 보고하는 바이다.

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염색체 Microarray 검사의 임상적 적용 (Clinical Applications of Chromosomal Microarray Analysis)

  • 서을주
    • Journal of Genetic Medicine
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    • 제7권2호
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    • pp.111-118
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    • 2010
  • 염색체 microarray 검사는 유전체 전체를 한번에 검색하여 초현미경적인 염색체 이상을 매우 정밀하고 정확하게 검출할 수 있다. 외국에서는 현재 자주 활용되는 임상 진단 검사로 자리잡았고, 염색체 검사 또는 표적 부위를 검출하는 FISH 검사나 PCR 기반의 분자유전학적 방법을 대체하고 있다. 최근 발표된 consensus 들은 염색체 microarray 검사를 비특이적인 다발성 기형, 발달지연 또는 정신지체, 자폐증상질환의 환자에서는 염색체 검사보다 먼저 시행할 수 있는 검사로 제안하였다. 염색체 microarray 검사는 핵형 분석에서 검출된 염색체 불균형을 검증하기 위해 염색체 검사에 보조적으로 활용할 수 있고, 염색체 이상에 대한 보다 정확하고 종합적인 분석이 가능하다. 그러나 염색체 microarray 검사는 균형재배열의 염색체 이상과 low-level 모자이시즘을 검출하기 어렵고, 임상적 중요성이 불명확한 CNV에 대한 해석과 검사비용이 고가라는 한계점이 있다. 이러한 이유로 인해 현재로서는 염색체 microarray 검사가 산전 진단 목적으로는 고식적인 염색체 검사를 대신할 수는 없다는 의견이다. 임상검사실에서 염색체 microarray 검사 시행 시, 유전학적 및 세포유전학적 지식과 경험이 결과 분석과 해석 과정에서 요구되며, 적절한 검증 과정 단계와 유전상담이 동반되어야 한다.