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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency...
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Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy

Li Q

The reduction of survival motor neuron (SMN) protein causes spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease. Nusinersen is an antisense oligonucleotide, approved by the FDA, which specifically binds...
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Anterior Cervical Discectomy and Fusion for Hirayama Disease: a Case Report and Literature Review

Kuo YH, Kuo CH, Huang WC, Wu JC

Hirayama disease, a juvenile muscular atrophy of the distal upper extremity, is a rare form of cervical flexion myelopathy characterized by insidiously progressive weakness of the hands and forearm muscles...
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Cervical Spondylotic Amyotrophy: Case Series and Review of the Literature

Takahashi , Hanakita J, Minami M, Tomita Y, Sasagasako T, Kanematsu

OBJECTIVE: Cervical spondylotic amyotrophy (CSA) is a relatively rare entity caused by cervical degenerative spinal diseases and characterized by motor weakness accompanied by remarkable muscle atrophy in the upper extremities...
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Factors Related to Preoperative Shoulder Pain in Patients with Atraumatic Painful Rotator Cuff Tears

Park I, Lee HJ, Kim SK, Park MS, Kim YS

BACKGROUND: Patients with rotator cuff tears are usually afflicted with shoulder pain and disability. However, it is unclear which factors are related to shoulder pain in patients with rotator cuff...
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A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2

Park JM, Nishio H, Shin JH, Park JS

No abstract available.
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Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1

Cho MJ

Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in...
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Evaluation of Muscular Atrophy and Fatty Infiltration Using Time-zero Magnetic Resonance Imaging as Baseline Data, After Rotator Cuff Repair

Kim HB, Yoo JC, Jeong JY

BACKGROUND: This study evaluated postoperative changes in the supraspinatus from time-zero to 6 months, using magnetic resonance imaging (MRI). We hypothesized that restoration of the musculotendinous unit of the rotator...
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Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Kim YA, Jin HY, Kim YM

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to...
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The Volume of Subscapularis Muscle Remains Unaffected by Supraspinatus Tendon Tears: Three-dimensionally Reconstructed Magnetic Resonance Imaging Analysis

Jun YC, Moon YL, Bhardwaj H, Lim JH, Cha DH

BACKGROUND: This study aimed to compare the subscapularis muscle volume between the intact groups (group I) and supraspinatus tendon tear groups (group T) based on the sex and three different...
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Analysis of Greater Tuberosity from the Center of the Humeral Head: Progression to Femoralization

Lee JS, Song HS, Kim H, Yoon HM, Han SB

BACKGROUND: Progression of the tear size and erosion of the greater tuberosity (femoralization) in the supraspinatus tear makes it difficult to repair or increases the risk of a re-tear. This...
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Effects of Electrical Muscle Stimulation for Preventing Deltoid Muscle Atrophy after Rotator Cuff Repair: Preliminary Results of a Prospective, Randomized, Single-blind Trial

Lee GJ, Cho H, Ahn BH, Jeong HS

BACKGROUND: This study investigates the effects of neuromuscular electrical stimulation (NMES) in preventing deltoid atrophy during the first 12 weeks after arthroscopic rotator cuff repair. METHODS: Eighteen patients undergoing arthroscopic repair...
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Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy

Cho SY, Kim S, Chung SK

PURPOSE: To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient. CASE SUMMARY: A 6-year-old female presented with bilateral ground...
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Urinary Mercury Levels Among Workers in E-waste Shops in Nakhon Si Thammarat Province, Thailand

Decharat S

OBJECTIVES: To determine urinary mercury levels in e-waste workers in Southern Thailand and the airborne mercury levels in the e-waste shops where they worked, to describe the associations between urinary...
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Concurrent treatment with ursolic acid and low-intensity treadmill exercise improves muscle atrophy and related outcomes in rats

Kim JC, Kang YS, Noh EB, Seo BW, Seo DY, Park GD, Kim SH

The objective of this study was to analyze the concurrent treatment effects of ursolic acid (UA) and low-intensity treadmill exercise and to confirm the effectiveness of UA as an exercise...
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Treatment Strategy for Irreparable Rotator Cuff Tears

Oh JH, Park MS, Rhee SM

Recently, patients with shoulder pain have increased rapidly. Of all shoulder disorders, rotator cuff tears (RCTs) are most prevalent in the middle-aged and older adults, which is the primary reason...
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Quantitative Measurement of Muscle Atrophy and Fat Infiltration of the Supraspinatus Muscle Using Ultrasonography After Arthroscopic Rotator Cuff Repair

Kim YK, Choi ES, Kim KT, Yoon JR, Chae SH

OBJECTIVE: To investigate the utility of ultrasonography to objectively examine morphological changes (i.e., muscle atrophy and fatty infiltration) of the supraspinatus muscle. METHODS: Thirty-four patients were prospectively enrolled in this study....
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Two Cases of Hirayama Disease in a Pediatric Clinic

Ahn H, Yum MS, Kim HJ, Yeh HR, Ko TS

We report two pediatric cases with Hirayama disease—a 16-year-old boy with a left wrist drop and a 14-year-old-boy with weakness and muscle atrophy of right hand. Motor nerve conduction study...
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Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance...
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Etiological Classification and Developmental Outcomes in Floppy Infants: A Single Tertiary Center Experience

Park JM, Choi YH, Lee HN, Chung HJ

PURPOSE: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes...
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