• The Journal of the Korean bone and joint tumor society
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• v.8 no.3
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• pp.96-105
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• 2002

Purpose: The purpose of this study was to assess the oncologic results and functional outcomes of limb salvage surgery performed in patients of primary bone tumors of the shoulder girdle. Materials and Methods: Twenty-nine patients who underwent limb sparing resection for shoulder girdle neoplasm between 1982 and 2001 were analyzed. Follow up periods averaged 7 years and 1 month. Mean age of the patients was 35 (11~71) years. There were 14 males and 15 females. Primary malignant bone tumors of shoulder girdle (proximal humerus 21, scapula 3, both 1) were 23 cases; osteosarcomas 7, chondrosarcoma 14, parosteal osteosarcoma 1, hemangioendothelioma 1, and giant cell tumor of proximal humerus were 6 cases. Limb salvage surgery was performed by curettage and cementing in 7 patients, by cement molding arthroplasty in 10 patients, and by tumor prosthesis in 7 patients, by other method such as resection only, bone graft, arthrodesis in 5 patients. The Musculoskeletal Tumor Society functional rating system was used to assess functional outcomes. Results: One osteosarcoma and 2 chondrosarcoma patients died, and the survival of the salvaged limb was 88.6% at the final follow-up. There were 6 local recurrences, 2 lung metastases, 2 local recurrences and lung metastases. The functional outcome was 80%. There was statistically significant difference of functional results among the patients treated by cement filling (86%), cement molding arthroplasty and IM nailing (71%), and tumor prosthesis (83%). (p=0.034) There were three complications including 1 radial nerve palsy and 1 axillary nerve palsy, and 1 wound infection. Dislodgement of vascularized fibular graft in one patient was treated by internal fixation. Conclusion: Limb salvage surgery seems to be useful method to treat bone tumors of the shoulder girdle.

• The Journal of Internal Korean Medicine
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• v.13 no.2
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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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• v.6 no.2
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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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• v.16 no.2
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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.

• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Physical Therapy Korea
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• v.15 no.4
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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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• v.22 no.1
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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.

• The Academic Congress of Korean Shoulder and Elbow Society
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• 2009.03a
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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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• v.16 no.6
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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 [$Ca^{2+}$].

• Korean Journal of Applied Biomechanics
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• v.20 no.2
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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.