• 대한골관절종양학회지
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• 제8권3호
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• pp.96-105
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• 2002

목적: 견관절 주위 원발성 골 종양 환자에서 시행한 사지 구제술의 종양학적, 기능적 결과를 평가하고자 하였다. 대상 및 방법: 1982년에서 2001년 사이에 견관절 주위 원발성 골 종양으로 본원에서 사지 구제술을 시행 받은 환자 중 추시 관찰이 가능한 2 9명을 대상으로 하였다. 평균 연령은 35세, 평균 추시 기간은 7년 1개월(1년 2개월~19년 9개월)이었고, 골육종 7예, 연골육종 14예, 방골성 골육종 1예, 혈관외피종 1예, 거대세포종 6예였다. 사지 구제술의 방법으로는 시멘트 충전술을 7예에서, 시멘트 주형 관절성형술 및 골수강내 정 삽입술을 10예에서, 종양 대치물 삽입술을 7예에서 이용하였으며, 5예에서는 절제만 시행하거나, 골이식, 관절 유합술 등을 실시하였다. 술 후 기능 평가는 근골격계 종양 학회(Musculoskeletal Tumor Society)의 상지 근골격계 종양 환자 기능 평가 방법을 이용하였다. 결과: 추시 도중 6예에서 국소 재발 하였고, 2예에서 폐 전이로 재발 하였고, 2예에서는 국소 재발과 폐전이가 모두 있었으며 3명이 사망하였다. 구제된 상지의 생존율은 최종 추시상 88.6%였으며, 재발이나 전이가 있을 경우 열등한 사지의 생존율을 보였다(p=0.012). 근골격계 종양 학회 기능 평가상 구제된 상지의 기능 점수는 평균 80%(24점, 18~30점)였다. 치료방법에 따른 기능 점수는 시멘트 충전술 86%, 시멘트 주형 관절성형술 및 골수강내 정 삽입술 71%, 종양 대치물 삽입술 83%점으로 시멘트 주형 관절성형술 및 골수강내 정 삽입술이 통계적으로 유의하게 좋지 않은 결과를 보여주었다(p=0.034). 합병증으로 요골 신경 마비와 액와 신경 마비가 각각 1예 있었으며, 생 비골 이식편의 이탈로 재수술을 받은 경우가 1예, 창상 감염이 1예 있었다. 결론: 견관절 주위 악성 골 종양과 거대 세포종의 치료에 있어서, 사지 구제술은 종양학적, 기능적으로 만족할 만한 결과를 얻을 수 있는 방법으로 사료된다.

• 대한한방내과학회지
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• 제13권2호
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• pp.100-110
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• 1992

For an effective acupuncture treatment, the location of muscles around Sutaeumkyongkun and Suyangmyongkyongkun were researched and they were made contracted. The conclusion is as follows; 1. The contraction of muscles around Sutaeumkyongkun gives appearance of the postures ; free movement of thumb, abduction of extension of wrist, flexion and pronation of elbow, depression and abduction of girdle of superior limb, flexion, internal rotation and horizontal flexion of shoulder joint These postures all together consequently produces the action 'holding something in arms'. 2. The contraction of muscles around Suyangmyongkyongkun gives appearance of the postures; extension of metacarpophalangeal and interphalangeal joint of index finger extension and abduction of thumb, extension of wrist, extension and supination of elbow, adduction, elevation and upward rotation of girdle of superior limb, extension, abduction, adduction, internal rotation, external rotation, horizontal extension of shoulder joint, flexion and opposite rotation of neck. These postures all together consequently produces the action 'raising arms'.

• Annals of Clinical Neurophysiology
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• 제6권2호
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• pp.65-74
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• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• 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.

• 한국전문물리치료학회지
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• 제15권4호
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• pp.34-42
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• 2008

This study aimed to examine whether McConnell taping for deltoid inhibition affects the Electromyographic (EMG) activity of shoulder girdle muscles during arm elevation. Ten young healthy men were randomly assigned to an experimental and control groups of five men each. For the experimental group, we performed taping for deltoid inhibition on the skin over anterior and posterior deltoids with non-elastic specific tape, and sham-taping with non-elastic under-tape for the control group. Surface EMG measurements were performed three times (before, during and after the tapings) at upper and lower trapezius, mid-deltoid, and serratus anterior muscles while elevating dominant aim with loading and unloading conditions. In deltoid inhibition taping group, there were significant differences in EMG activity of mid-deltoid (p<.05) and serratus anterior (p<.05) muscles during arm elevation with loading. During arm elevation without loading, the EMG activity was significantly decreased for MD in the McConnell taping group (p<.05). The findings indicate that deltoid inhibition taping can modify the activation patterns in shoulder girdle muscles as well as in deltoid muscle. in clinical setting. it may be effectively used for the management of patients with shoulder dysfunction.

• Annals of Clinical Neurophysiology
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• 제22권1호
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• pp.29-32
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• 2020

Sarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.

• 대한견주관절학회:학술대회논문집
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• 대한견주관절학회 2009년도 제17차 학술대회
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• pp.222-222
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• 2009

Primary malignant bone tumors of the scapula are very rare, and little literature is available regarding their characteristics and outcome. We studied the clinical characteristics, and outcome of patients with primary malignant bone tumors of the scapula. From 1979 to 2008, we treated 7 patients at our institute (4 men and 3 women; chondrosarcoma 3, Ewing's sarcomas 3, Osteosarcoma 1). The mean age was 45 years (range, 5~65 years). The follow-up period was 2 - 180 months. Six patients were performed operations: total scapulectomy 3, partial scapulectomy 1, forequarter resection 1, total resection of the shoulder girdle (Tikhoff-Linberg procedure) 1. No-operative treatment was chosen for one patient with a limited life expectancy. Local recurrence occurred in one patient. Distant metastasis occurred in 3 patients. Of the 7 patients, 4 patients are died because of propagation of the disease. Three patients were alive and apparently disease-free, and these patients were evaluated for functional results with the functional evaluation system of the International Society of Limb Salvage (ISOLAS). Functional result of partial scapulectomy was excellent, however, the function after total scapulectomy or Tikhoff-Linberg procedure is severely impaired. Our study indicates reconstruction procedure needs to be reconsidered following total scapulectomy or Tikhoff-Linberg procedure.

• Animal cells and systems
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• 제16권6호
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• pp.431-437
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• 2012

Calpains are a class of proteins that belong to the calcium-dependent, non-lysosomal cysteine proteases. There are three major types of calpains expressed in the skeletal muscle, namely, ${\mu}$-calpain, m-calpain, and calpain 3, which show proteolytic activities. Skeletal muscle fibers possess all three calpains, and they are $Ca^{2+}$-dependent proteases. The functional role of calpains was found to be associated with apoptosis and myogenesis. However, calpain 3 is likely to be involved in sarcomeric remodeling. A defect in the expression of calpain 3 leads to limb-girdle muscular dystrophy type 2A. Calpain 3 is found in skeletal muscle fibers at the N2A line of the large elastic protein, titin. A substantial proportion of calpain 3 is activated 24 h following a single bout of eccentric exercise. In vitro studies indicated that calpain 3 can be activated 2-4 fold higher than normal resting cytoplasmic [$Ca^{2+}$]. Characterization of the calpain system in the developing muscle is essential to explain which calpain isoforms are present and whether both ${\mu}$-calpain and m-calpain exist in differentiating myoblasts. Information from such studies is needed to clarify the role of the calpain system in skeletal muscle growth. It has been demonstrated that the activation of ubiquitous calpains and calpain 3 in skeletal muscle is very well regulated in the presence of huge and rapid changes in intracellular [$Ca^{2+}$].

• 한국운동역학회지
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• 제20권2호
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• pp.197-204
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• 2010

Scapular position and motion are essential for normal upper limb mobility; Further, the posture of patients with thoracic kyphosis is related to shoulder girdle function and disorder. The purpose of this study was to examine the effects of thoracic posture on the shoulder range of motion and on three-dimensional scapular kinematics. Thirty healthy subjects performed right-arm abduction along the frontal plane while standing in both erect and in slouched trunk posture. The scapular position and rotation, and shoulder and thoracic angles were recorded using a motion analysis system. The scapular upward rotation and internal rotation were significantly altered according to postural tatiges; however, scapular tilt was not affected. Shoulder angle was significantly decreased in the slouched posture as c rpared to tatt in the erect posture. Thus, a slouched posture(thoracic kyphosis) significantly affects the shoulder range of motion and scapular kinematics during shoulder abduction in the frontal plane.