• 제목/요약/키워드: dystrophy

검색결과 165건 처리시간 1.296초

RASA1-Related Parkes Weber Syndrome in a Neonate

  • Koh, Hong Ryul;Lee, Yeon Kyung;Ko, Sun Young;Shin, Son Moon;Han, Byoung-Hee
    • Neonatal Medicine
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    • 제25권3호
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    • pp.126-130
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    • 2018
  • Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

Study on Infrared Thermography (적외석 체열촬영에 관한 고찰)

  • Kim, Ho-Bong
    • The Journal of Korean Academy of Orthopedic Manual Physical Therapy
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    • 제1권1호
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    • pp.9-14
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    • 1995
  • Thermography is a diagnostic procedures that measures infrared energy emitted by the skin. Thermography detects body temperature change which are controlled by the autonomic nervous system. It does show the thermal dysfunction that correlates closely with pain syndromes as well as normalization when the healing process takes place. Experienced clinical interpretation of the thermal pattern is necessary to diagnose and establish causation. Thermography is useful in the diagnosis of painful conditions such as herniated disc diseases, myofascial syndrome, myositis, musculoligamentous injury, reflex sympathetic dystrophy, athretic injuries, vascular diseases, arthritis, inflammation and breast tumors.

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A Design of the Expert System for Diagnosis of Abnormal Gait by using Rule-Based Representation (규칙처리 표현방식을 이용한 이상 보행용 전문가 시스템의 설계)

  • Lee, Eung-Sang;Lee, Ju-Hyeong;Lee, Myoung-Ho
    • Proceedings of the KIEE Conference
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    • 대한전기학회 1987년도 전기.전자공학 학술대회 논문집(II)
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    • pp.1329-1332
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    • 1987
  • This paper describes a design of the expert system for diagnosis of abnormal gait patients. This system makes the rule-based representation that can easily extend the knowledge-base and naturally represent the uncertainty, and the inference engine that uses forward chaining which covers the reasoning from the first condition to the goal. The results of inferring various maladies using this system are as follows: 1) In cases of progressive muscular dystrophy, cerebral vascular accident, peripheral neuropathic lesion and peroneal nerve injury, the result of inference is the same as that of medical specialists' with 100% accuracy. 2) In cases of Neuritis, Paralysis agitan and Brain tumor, the accuracy of inference is less than 50% compared to that of medical specialists. With above results, we decide that the rule-based representations of some maladies ard accurate relatively, but that the correction and the extention of some rules and some methods of problem solving are required in order to construct the complete expert system for diagnosis of abnormal gait patients.

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A Research on the Classification of Herbal Medicines based on the Sasang Constitution (Taeumin and Taeyangin Part) (사상(四象) 체질별(體質別) 약재(藥材) 분류(分類) 관한 연구(硏究)(태음인(太陰人) 및 태양인편(太陽人編))

  • Kim, Kyung-Yo;Kim, Jong-Yol
    • Journal of Sasang Constitutional Medicine
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    • 제14권1호
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    • pp.1-9
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    • 2002
  • We analyzed 44 and 16 types of herbal medicines for Taeumin and Taeyangin, clinically applied in Dongyisoosebowon. In order to discover the standard of herbal classification for the Sasang constitutions, four concepts of Sasang Medicine were applied. These included 'Sadangron (theory of four groups)', 'Seungganggaehap (ascending-descending and gathering-dispersing)', 'Pyorihanyoul (exterior-interior and hot-cold)',and 'Hyungchiaekmi (fragrance, smell, bodily fluid and taste)'. According to these analyzing methods of herbal properties, we have reached the following conclusions: Herbal medicines for 'Taeumin' are characterized by opening energetics that reinforce dispersing Qi. The 'Exterior cold disease' is treated with herbs that ventilate the lungs and disperse dampness in three ways: by moistening the lungs, by releasing exterior, and by resolving dampness. The 'Interior heat disease' is treated with herbs that clear the liver and disperse heat in two ways. One by clearing liver heat through dispersing damp-heat of the small intestine and the other by opening orifices. Herbal medicines for Taeyangin are characterized by those that gather energy inward. They include herbs that treat beriberi, dystrophy of the extremities and vomiting, as well as, fish, shellfish, fruits and vegetable.

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Protective effect of Korean Red Ginseng against chemotherapeutic drug-induced premature catagen development assessed with human hair follicle organ culture model

  • Keum, Dong In;Pi, Long-Quan;Hwang, Sungjoo Tommy;Lee, Won-Soo
    • Journal of Ginseng Research
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    • 제40권2호
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    • pp.169-175
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    • 2016
  • Background: Chemotherapy-induced alopecia (CIA) is one of the most distressing side effects for patients undergoing chemotherapy. This study evaluated the protective effect of Korean Red Ginseng (KRG) on CIA in a well-established in vitro human hair follicle organ culture model as it occurs in vivo. Methods: We examined whether KRG can prevent premature hair follicle dystrophy in a human hair follicle organ culture model during treatment with a key cyclophosphamide metabolite, 4-hydroperoxycyclophosphamide (4-HC). Results: 4-HC inhibited human hair growth, induced premature catagen development, and inhibited proliferation and stimulated apoptosis of hair matrix keratinocytes. In addition, 4-HC increased p53 and Bax protein expression and decreased Bcl2 protein expression. Pretreatment with KRG protected against 4-HC-induced hair growth inhibition and premature catagen development. KRG also suppressed 4-HC-induced inhibition of matrix keratinocyte proliferation and stimulation of matrix keratinocyte apoptosis. Moreover, KRG restored 4-HC-induced p53 and Bax/Bcl2 expression. Conclusion: Overall, our results indicate that KRG may protect against 4-HC-induced premature catagen development through modulation of p53 and Bax/Bcl2 expression.

Impact of Echinococcosis on Quality of Sheep Meat in the South Eastern Kazakhstan

  • Valieva, Z.;Sarsembaeva, N.;Valdovska, A.;Ussenbayev, A.E.
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권3호
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    • pp.391-397
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    • 2014
  • A survey of 2,123 slaughtered adult sheep in markets of the south-east Kazakhstan established that the average contamination of animals by Echinococcus granulosus is 9.1% with primary localization of cysts in livers and lungs. The histologic structure of the muscle tissue of infected sheep displayed destructive changes with a prevalence of granular dystrophy. The amount of protein, fat, calcium and energetical value of such meat considerably decreased. Besides in the muscle tissue of the animals infected with echinococcosis there was a substantial increase of humidity and amount of ash as well as qualitative and quantitative changes of the amino acids profile. Along with damage to the synthesis of proteins and sharp insufficiency of vitamins A, E, $B_1$, and $B_2$ there was a shift in a lipidic exchange that was expressed as a noticeable reduction in the level of monounsaturated and polyunsaturated fatty acids. The data support the conclusion that the meat from the sheep infected with echinococcosis is of inferior quality and quantity compared to that of healthy animals.

Involvement of Selective Alpha-2 Adrenoreceptor in Sympathetically Maintained Pain

  • Park, Chan-Hong;Yong, An;Lee, Sang-Ho
    • Journal of Korean Neurosurgical Society
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    • 제47권6호
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    • pp.420-423
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    • 2010
  • Objective : Peripheral nerve injury often leads to neuropathic pain, which is characterized by burning pain, allodynia, and hyperalgesia. The role of the sympathetic nervous system in neuropathic pain is a complex and controversial issue. It is generally accepted that the alpha adrenoreceptor (AR) in sympathetic nerve system plays a significant role in the maintenance of pain. Among alpha adrenoreceptor, alpha-1 receptors play a major role in the sympathetic mediated pain. The primary goal of this study is to test the hypothesis that sympathetically maintained pain involves peripheral alpha-2 receptors in human. Methods : The study was a randomized, prospective, double-blinded, crossover study involving twenty patients. The treatments were : Yohimbine (30 mg mixed in 500 mL normal saline), and Phentolamine (1 mg/kg in 500 mL normal saline) in 500 mL normal saline at 70 mL/hr initially then titrated. The patients underwent infusions on three different appointments, at least one month apart. Thus, all patients received all 2 treatments. Pain measurement was by visual analogue scale, neuropathic pain questionnaire, and McGill pain questionnaire. Results : There were significant decreases in the visual analogue scale, neuropathic score, McGill pain score of yohimnine, and phentolamine. Conclusion : We conclude that alpha-2 adrenoreceptor, along with alpha-2 adrenoreceptor, may be play role in sympathetically maintained pain in human.

Store-operated Ca2+ entry in muscle physiology and diseases

  • Pan, Zui;Brotto, Marco;Ma, Jianjie
    • BMB Reports
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    • 제47권2호
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    • pp.69-79
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    • 2014
  • $Ca^{2+}$ release from intracellular stores and influx from extracellular reservoir regulate a wide range of physiological functions including muscle contraction and rhythmic heartbeat. One of the most ubiquitous pathways involved in controlled $Ca^{2+}$ influx into cells is store-operated $Ca^{2+}$ entry (SOCE), which is activated by the reduction of $Ca^{2+}$ concentration in the lumen of endoplasmic or sarcoplasmic reticulum (ER/SR). Although SOCE is pronounced in non-excitable cells, accumulating evidences highlight its presence and important roles in skeletal muscle and heart. Recent discovery of STIM proteins as ER/SR $Ca^{2+}$ sensors and Orai proteins as $Ca^{2+}$ channel pore forming unit expedited the mechanistic understanding of this pathway. This review focuses on current advances of SOCE components, regulation and physiologic and pathophysiologic roles in muscles. The specific property and the dysfunction of this pathway in muscle diseases, and new directions for future research in this rapidly growing field are discussed.

CALMOSTINOL, A NEW CALPAIN INHIBITOR PRODUCED BY AN ACTINOMYCETE

  • Chung, Myung-Chul;Lee, Ho-Jae;Lee, Choong-Hwan;Chun, Hyo-Kon;Kho, Yung-Hee
    • Proceedings of the Korean Society of Applied Pharmacology
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    • 한국응용약물학회 1998년도 Proceedings of UNESCO-internetwork Cooperative Regional Seminar and Workshop on Bioassay Guided Isolation of Bioactive Substances from Natural Products and Microbial Products
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    • pp.127-127
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    • 1998
  • Specific inhibitors of a calcium activated neutral protease calpain could be used for the treatment of neurodegenerative diseases, cataract and muscular dystrophy diseases because of their therapeutic effects. In the course of screening for potential calpain inhibitors from microorganisms, a new analogue of chymostatins named calmostinol was isolated from the culture filtrate of an actinomycete. The MW was determined to be 596 [(M + H)$\^$+/] by FAB-MS in glycerol matrix. The structure was elucidated to be N-[((S)-1-carboxy-2-phenylethyl)-carbamoyl]-${\alpha}$-[2- iminohexahydro-4(S)-pyrimidyl]-L-glycyl- L-valyl-phenylalaninol, by the spectroscopic methods such as NMR and MS fragmentation studies. Calmostinol exhibited strong activity against calpain while not against a Ca$\^$2+/ -independent cysteine protease papain.

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