• 제목/요약/키워드: muscle dystrophy

검색결과 41건 처리시간 0.019초

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.

보행(步行)에 관(關)한 문헌적(文獻的) 고찰(考察) (A Literature Study of Gait)

  • 김범철;금동호;이명종
    • 동국한의학연구소논문집
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    • 제5권
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    • pp.79-95
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    • 1996
  • When we see normal gait, gait cycle is seperated as stance phase and swing phase. It needs 6 determinant of gait of pelvic rotation, pelvic tilt, knee joint of stance phase, ankle and foot motion, ankle and knee motion, and pelvic movement to be accomplished. In addition, a joint and muscle action is accomplished biomechanically at the same time with its gait cycle. In oriental medicine, the relationships between chang-fu physiology and meridian physiology are summaried as follows ; ${\bullet}$ chang-fu physiology : Spleen manages the extremities. Liver manages soft tissues. Liver stores blood. Kidney stores essences. Kidney manages bones. ${\bullet}$ meridian physiology : The Leg Greater Yang Meridian and meridian soft tissues The Leg Yang-Myeong Meridian and meridian soft tissues The Leg Lesser Yang Meridian and meridian soft tissues The Leg Greater Yin Meridian and meridian soft tissues The Leg Lesser Yin Meridian and meridian soft tissues The Leg Absolute Yin Meridian and meridian soft tissues Especially, we can find out relations between in a "blood supplied feet can walk well" that explains "blood regulations and by liver nourishing effects"that is the closest concept of muscle. Abnormal gaits are due to three causes as following; first, physical defect secoud, pain third, nervous system or instability of muscle. In oriental medicine, we can know relationship in "atrophy, numbness, stroke, convulsion, muscular dystrophy of knee, rheumatoid arthritis, five causes of infantile growing defects, five causes of softening, sprain". Especially, atrophy is the most important symptom. Gait evaluation should be emphasized where a point can walk 8 feet to 10 feet considering stride width, stride length, the body weight center, stride number, flexion, extension, rotation of a joint as a standard factor. The point is we should find out something strange in a patient's side, front and back view. After that we should find out its cause as an index that we can observe abnormal findings in a joint and muscle.

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Dual function of MG53 in membrane repair and insulin signaling

  • Tan, Tao;Ko, Young-Gyu;Ma, Jianjie
    • BMB Reports
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    • 제49권8호
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    • pp.414-423
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    • 2016
  • MG53 is a member of the TRIM-family protein that acts as a key component of the cell membrane repair machinery. MG53 is also an E3-ligase that ubiquinates insulin receptor substrate-1 and controls insulin signaling in skeletal muscle cells. Since its discovery in 2009, research efforts have been devoted to translate this basic discovery into clinical applications in human degenerative and metabolic diseases. This review article highlights the dual function of MG53 in cell membrane repair and insulin signaling, the mechanism that underlies the control of MG53 function, and the therapeutic value of targeting MG53 function in regenerative medicine.

제 2단계 견봉하 충돌증후군에서 관절경적 감압술(5년에서 12년의 장기추시관찰 결과) (Arthroscopic Decompression in Stage II Subacromial Impingement - Five to Twelve Years Follow up -)

  • 최종혁
    • Clinics in Shoulder and Elbow
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    • 제2권2호
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    • pp.99-105
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    • 1999
  • We investigated the effectiveness of arthroscopic decompression in stage Ⅱ subacromial impingement after long term follow up. Arthroscopic subacromial decompression was done in 104 consecutive patients who had stage Ⅱ sub­acromial impingement. After average of 8.4 years follow up, the final results were as following; 57 shoulders(55%) in excellent, 25(24%) in good, 16(15%) in fair and 6(6%) in poor. All parameters-pain, function, muscle strength and motion-were improved significantly(p<0.00l). Rotator cuff tear was developed in 10 shoulders after decompression. Among them, 8 shoulders had unfavorable results including two poor. In 6 failures, two had rotator cuff tear, three had recurrence of impingement with degenerative change and reflex sympathetic dystrophy was developed in one. Reoperations were done in 4 shoulders. Improvement of impingement symptoms was maintained in the most of patients(79%) after long term follow up. Arthroscopic decompression surgery was very effective means for stage Ⅱ impingement syndrome.

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A Korean family with AGel amyloidosis presenting with progressive facial and bulbar palsies

  • Kang, Minsung;Shin, Jin-Hong;Kim, Dae-Seong
    • Annals of Clinical Neurophysiology
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    • 제24권2호
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    • pp.90-92
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    • 2022
  • AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.

상염색체 열성 지대형 근이영양증 환자로부터 TTN 유전자의 복합 이형접합성 대립유전자의 분리 (Identification of Compound Heterozygous Alleles in a Patient with Autosomal Recessive Limb-Girdle Muscular Dystrophy)

  • 최희지;이수빈;권혜미;최병옥;정기화
    • 생명과학회지
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    • 제31권10호
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    • pp.913-921
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    • 2021
  • 고관절과 어깨의 점진적인 근육 약화를 특징으로 하는 지대형 근이영양증(limb-girdle muscular dystrophy: LGMD)은 우성 및 열성 유전을 모두 보여주며, TTN을 비롯한 많은 유전자가 발병과 관련된 것으로 알려져 있다. 본 연구는 40대 중반의 늦은 발병을 나타낸 상염색체 열성 LGMD 및 심방 조동의 증상을 가진 한 남성 환자의 유전적 원인을 규명하기 위해 수행되었다. 전장 엑솜 서열분석을 수행하여 환자로부터 TTN 유전자의 복합 이형 접합성 변이의 대립유전자를 동정하였다. 한 대립유전자는 [c.24124G>T (p.V8042F)]의 단일 변이를 보였지만, 다른 대립유전자는 [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]의 세 변이로 구성된 단상형이었다. 대립유전자 중 p.V8042F는 어머니로부터 유전된 반면, 다른 단상형 대립유전자는 아버지로부터 유전된 것으로 추정되었다. 본 연구에서 분리된 TTN 변이들은 공공 인간 유전체 데이터베이스(1,000 Genomes, gnomAD 및 KRGDB)에서 보고되지 않았거나 매우 낮은 빈도로 보고되었다. 대부분의 변이들은 고도로 보존된 면역글로불린 또는 피브로넥틴 도메인에 위치했으며, 일부 in silico 분석에 의해 병원성인 것으로 예측되었다. TTN 거대 단백질은 근육 조립, Z-라인에서 힘 전달, I-밴드에서 안정 장력 유지에 중요한 역할을 한다. 결론적으로, 우리는 이러한 이형접합성 복합 돌연변이의 이중 대립유전자가 LGMD 표현형의 유전적 원인으로서 작용할 수 있을 것으로 제시한다.

Fukuyama 선천성 근이영양증에서의 분자유전학적 분석 (Molecular Genetic Analysis in Dystroglycanopathy with the Fukuyama Congenital Muscular Dystrophy Phenotype)

  • 차명진;신재은;김세훈;이민정;이철호;이영목
    • 대한유전성대사질환학회지
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    • 제17권2호
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    • pp.48-54
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    • 2017
  • 목적: Fukuyama 선천성 근이영양증은 희귀한 열성 유전질환으로 영아 시기에 발병하는 근긴장 저하, 뇌 기형 및 dystroglycanopathy 특징들을 보인다. 선천성 근육병의 넓은 스펙트럼에 여러 질환들이 존재하여 Fukuyama 선천성 근이영양증 진단을 어렵게 하지만, 유전형과 표현형 상관관계를 파악하면 진단을 도울 수 있다. 이 연구에서는 분자유전학 분석을 통해 선정한 FKTN 유전자와 Fukuyama 선천성 근이영증의 표현형의 연관성에 대해 알아보았다. 방법: 이 연구는 후향적으로 9명의 대상자들로 진행하였다. 영아 시기에 발병하는 근긴장 저하의 증상 및 뇌 자기공명영상에서 기형 소견을 보인 환자들을 대상으로 선정하였다. 그리고 FKTN 유전자를 이용한 염기서열 검사를 통해 유전자를 분석하였다. 결과: 9명의 대상자들 중 남성이 4명(44.4%), 여성이 5명(55.5%) 였다. 첫 증상이 발병한 나이의 중간값은 3.1개월였다. 6명(66.7%) 에서 첫 증상이 발달지연으로 나타났다. 모든 환자들은 영아 시기에 근긴장 저하 및 전반적 발달 지연 소견을 보였다. 또한, 모든 환자들은 뇌 자기공명영상에서 뇌 피질 기형 소견을 보였다. 9명의 환자들 중 6명이 근육생검 검사를 실시하였고 그 중 4명(4/6; 66.7%)이 특이 소견을 보였다. Fukuyama 선천성 근이영양증을 일으키는 FKTN 유전자 돌연변이는 3명에서 발견되었다. 결론: 이 연구에서 FKTN 유전자 변이를 보인 3명의 대상자들은 모두 뇌 자기공명영상에서 큰뇌이랑증 및 소뇌 형성장애 소견들을 보였다. 이것을 통해 근육병 증상을 보이면서 뇌 자기공명영상에서 특징적인 소견들을 보일 시 Fukuyama 선천성 근이영양증을 진단할 가능성을 높일 수 있다는 것을 확인하였다.

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Ginsenoside Rb1 and Rb2 upregulate Akt/mTOR signaling-mediated muscular hypertrophy and myoblast differentiation

  • Go, Ga-Yeon;Jo, Ayoung;Seo, Dong-Wan;Kim, Woo-Young;Kim, Yong Kee;So, Eui-Young;Chen, Qian;Kang, Jong-Sun;Bae, Gyu-Un;Lee, Sang-Jin
    • Journal of Ginseng Research
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    • 제44권3호
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    • pp.435-441
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    • 2020
  • Background: As a process of aging, skeletal muscle mass and function gradually decrease. It is reported that ginsenoside Rb1 and Rb2 play a role as AMP-activated protein kinase activator, resulting in regulating glucose homeostasis, and Rb1 reduces oxidative stress in aged skeletal muscles through activating the phosphatidylinositol 3-kinase/Akt/Nrf2 pathway. We examined the effects of Rb1 and Rb2 on differentiation of the muscle stem cells and myotube formation. Methods: C2C12 myoblasts treated with Rb1 and/or Rb2 were differentiated and induced to myotube formation, followed by immunoblotting for myogenic marker proteins, such as myosin heavy chain, MyoD, and myogenin, or immunostaining for myosin heavy chain or immunoprecipitation analysis for heterodimerization of MyoD/E-proteins. Results: Rb1 and Rb2 enhanced myoblast differentiation through accelerating MyoD/E-protein heterodimerization and increased myotube hypertrophy, accompanied by activation of Akt/mammalian target of rapamycin signaling. In addition, Rb1 and Rb2 induced the MyoD-mediated transdifferentiation of the rhabdomyosarcoma cells into myoblasts. Furthermore, co-treatment with Rb1 and Rb2 had synergistically enhanced myoblast differentiation through Akt activation. Conclusion: Rb1 and Rb2 upregulate myotube growth and myogenic differentiation through activating Akt/mammalian target of rapamycin signaling and inducing myogenic conversion of fibroblasts. Thus, our first finding indicates that Rb1 and Rb2 have strong potential as a helpful remedy to prevent and treat muscle atrophy, such as age-related muscular dystrophy.

조기위암과 우연히 동반된 위의 샘근종(Adenomyoma) 1예 (Incidental Adenomyoma of Stomach Associated with Early Gastric Cancer)

  • 여민석;양현준;서동엽;김기홍;변창규;고영택;이효진;최석호
    • Journal of Gastric Cancer
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    • 제6권1호
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    • pp.43-46
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    • 2006
  • 위의 샘근종과 이소성 췌장의 구별은 어려우며, 샘근종을 이소성 췌장의 한 종류라고 생각하기도 한다. 위의 샘근종과 이소성 췌장의 구별은 이소성 체장에서는 샘창자샘 (Brunner's gland)이 발견되지 않는다는 점이다. 위의 샘근종이 악성화하는 경우는 매우 드물다. 본 증례의 경우, 위체부 하방과 유문부에 종괴가 있었으며, 조직겅검 결과에서 위체부 하방의 종괴는 샘암종으로 진단되었고, 유문부의 종괴는 샘근종으로 진단되었다. 본 증례의 경우, 위의 샘근종이 위암과 우연히 동반된 것이라고 생각된다.

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생체전위를 이용한 중증 운동장애자들을 위한 컴퓨터 접근제어장치 설계 (Design of Computer Access Devices for Severly Motor-disability Using Bio-potentials)

  • 정성재;김명동;박찬원;김일환
    • 대한전기학회논문지:시스템및제어부문D
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    • 제55권11호
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    • pp.502-510
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    • 2006
  • In this paper, we describe implementation of a computer access device for the severly motor-disability. Many people with severe motor disabilities need an augmentative communication technology. Those who are totally paralyzed, or 'locked-in' cannot use conventional augmentative technologies, all of which require some measure of muscle control. The forehead is often the last site to suffer degradation in cases of severe disability and degenerative disease. For example, In ALS(Amyotrophic Lateral Sclerosis) and MD(Muscular dystrophy) the ocular motorneurons and ocular muscles are usually spared permitting at least gross eye movements, but not precise eye pointing. We use brain and body forehead bio-potentials in a novel way to generate multiple signals for computer control inputs. A bio-amplifier within this device separates the forehead signal into three frequency channels. The lowest channel is responsive to bio-potentials resulting from an eye motion, and second channel is the band pass derived between 0.5 and 45Hz, falling within the accepted Electroencephalographic(EEG) range. A digital processing station subdivides this region into eleven components frequency bands using FFT algorithm. The third channel is defined as an Electromyographic(EMG) signal. It responds to contractions of facial muscles and is well suited to discrete on/off switch closures, keyboard commands. These signals are transmitted to a PC that analyzes in a time series and a frequency region and discriminates user's intentions. That software graphically displays user's bio-potential signals in the real time, therefore user can see their own bio-potentials and control their physiological signals little by little after some training sessions. As a result, we confirmed the performance and availability of the developed system with experimental user's bio-potentials.