• Title/Summary/Keyword: Congenital disorders

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

  • Lee, Ji Eun;Kim, Jung Hyun;Kang, Min Kyoung;Park, Hyun Jeong;Lee, Ji Hyun;Kim, Eun Kyung;Lee, Young Kyung;Jeong, Hye Cheol
    • Tuberculosis and Respiratory Diseases
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    • v.64 no.1
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    • pp.28-32
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    • 2008
  • Pulmonary arterial thrombosis develops during hypercoagulable states, intra-arterial tumorous conditions, and congenital heart disease accompanied by pulmonary hypertension. Thrombosis in the main pulmonary arterial stump after pneumonectomy can also occur. Herein, we report a very rare case of pulmonary arterial thrombosis in a patient with pulmonary hypertension and a lung destroyed by tuberculosis. He presented with aggravated dyspnea without fever or purulent sputum. His chest computerized tomography scan showed left main pulmonary arterial thrombosis as a convex shape, with the ipsilateral distal arteries and arterioles showing parenchymal destruction. After excluding pulmonary thromboembolism and hypercoagulable disorders, we diagnosed pulmonary arterial thrombosis and treated him with an anticoagulant.

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

  • Lee, Jin Hwa;Han, Jae Kyung;Kim, Yun Hee
    • The Journal of Pediatrics of Korean Medicine
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    • v.29 no.4
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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.

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

  • Han, Ah-Reum;Jeong, Ji-In;Feng, Jun;Kim, Yoon-Hyuk
    • Transactions of the Korean Society of Mechanical Engineers B
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    • v.36 no.11
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    • pp.1105-1110
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    • 2012
  • The spine is one of the most important skeletal joints, and it strongly affects the health of the musculoskeletal system. A normal spine has an S-shape, and it is very important to maintain this shape. Recently, spinal diseases such as low back pain have increased rapidly, especially among the elderly. Some of these diseases are caused by congenital spinal disorders and sporting and accident injuries as well as by bad postures. Improper spinal postures could generate excessive disc pressure, which is related to degeneration and pain. Therefore, in this study, we investigated the three-dimensional kinematic parameters of the thoraco-lumbar joint in several bad postures using a motion capture analysis technique. Different bad postures created a significant amount of flexion/extension, side bending, and axial rotation angle compared with neutral postures. Further study is necessary to investigate the disc pressure and ligament force due to the increase in joint rotation from the bad postures.

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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    • v.27 no.6
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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.

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

  • Lee, Jae-Sang;Choi, Cheol-Seok;Choi, Kyu-Soon;Lee, Mu-Ju;Doo, Hwa-Sun;Kang, Sang-Hoon
    • The Journal of the Korean life insurance medical association
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    • v.18
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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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    • v.9 no.1
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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.

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

  • Chung, Chul Hoon;Eun, Seok Chan;Seo, Dong Kuk;Jo, Woo Sung;Park, Se Hyuck
    • Archives of Plastic Surgery
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    • v.33 no.2
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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.

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- (기관지 천식과 편도 증식증 환자에서 상악 정중부 과잉치 발치 전 포크랄과 케타민 투여 진정요법 시 발생된 기도폐쇄와 호흡장애 -증례 보고-)

  • Choi, Young-Su;Kang, Sang-Hoon;Kim, Moon-Key;Lee, Chun-Ui;Yoo, Jae-Ha
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.10 no.1
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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.

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

  • Park, Ji-Eun;Kim, Seung-Oh;Kim, Jong-Soo
    • Journal of the korean academy of Pediatric Dentistry
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    • v.35 no.2
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    • pp.319-323
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    • 2008
  • Edward's syndrome is a genetic disorder of 18th chromosomal trisomy. Main clinical features of this syndrome include systemic conditions, such as mental retardation, growth retardation, dyspnea, congenital heart disease, and orthopedic disorders, such as flexion deformity and rocker-bottom feet. The characteristics of fetal abnormality are hydramnios, small placenta, common umbilical artery. Infants with Edward's syndrome have very low survival rate. Almost half of them die during fetal stage. Fifty percent of them survive 2 months, and 5 to 10 percent of them survive about 1 year. A 3-year and 7 month old girl visited our dental hospital for the treatment of dental caries. Considering her systemic disease, low body weight, medical history of cardiac surgery, and difficulty in airway management, dental procedure was performed under general anesthesia. We report this case with review of literatures.

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

  • Seo, Eul-Ju
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.111-118
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    • 2010
  • Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.