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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH

BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we...
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Combination of extracorporeal membrane oxygenation and in-line hemofiltration for the acute hyperkalemic cardiac arrest in a patient with Duchenne muscular dystrophy following orthopedic surgery: a case report

Kim SH, Song JH, Jung KT

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as...
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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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A New Functional Scale and Ambulatory Functional Classification of Duchenne Muscular Dystrophy: Scale Development and Preliminary Analyses of Reliability and Validity

Kim J, Jung IY, Kim SJ, Lee JY, Park SK, Shin HI, Bang MS

OBJECTIVE: To develop a simplified functional scale and classification system to evaluate the functional abilities of patients with Duchenne muscular dystrophy (DMD). METHODS: A Comprehensive Functional Scale for DMD (CFSD) was...
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Cardiac function associated with home ventilator care in Duchenne muscular dystrophy

Lee S, Lee H, Eun LY, Gang SW

PURPOSE: Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify...
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Use of remifentanil and propofol without muscle relaxant with Duchenne muscular dystrophy: A case report

Kim HS, Baek SY, Park DH, Ryu KH

Duchenne muscular dystrophy (DMD) is a relatively rare muscle disease with severe symptoms. Owing to the commonly limited mouth opening, cervical spine immobility, and deformation, DMD patients often present with...
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Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

Kim D, Kim YM, Seo GH, Kim GH, Yoo HW, Yum MS, Ko TS, Lee BH

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a...
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Perioperative Evaluation of Respiratory Muscle Strength after Scoliosis Correction in Patients with Duchenne Muscular Dystrophy

Saito W, Mizuno K, Inoue G, Imura T, Nakazawa T, Miyagi M, Shirasawa , Uchida K, Takaso M

STUDY DESIGN: Retrospective cohort study. PURPOSE: To investigate the effect of spinal correction on respiratory muscle strength in patients with Duchenne muscular dystrophy (DMD). OVERVIEW OF LITERATURE: Several studies have reported that...
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Noninvasive Respiratory Management of Patients With Neuromuscular Disease

Bach JR

This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy. In 2010 clinicians from 22 centers in 18 countries reported 1,623...
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The evolution of electrocardiographic changes in patients with Duchenne muscular dystrophies

Yoo WH, Cho MJ, Chun P, Kim KH, Lee JS, Shin YB

PURPOSE: Myocardial dysfunction and dysrhythmias are inevitable consequences of Duchenne muscular dystrophy. We aimed to evaluate specific trends of electrocardiographic changes that reflect the progress of cardiomyopathy in patients with...
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Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW

PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries....
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Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy

Kim EY, Lee JW, Suh MR, Choi WA, Kang SW, Oh HJ

OBJECTIVE: To investigate the relationship between serum creatine kinase (CK) level and pulmonary function in Duchenne muscular dystrophy (DMD). METHODS: A total of 202 patients with DMD admitted to the Department...
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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, Thomas PT, Nashi S, Nalini A

BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and...
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A Patient with Multiple Unfavorable Reconstruction Options: What Is the Best Choice?

Park HJ, Son KM, Choi WY, Cheon JS

The method of lower limb reconstruction surgery is selected based on a patient's underlying conditions, general conditions, and wound status, and it usually varies from direct closure to skin graft...
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Analysis of Pulmonary Function Test in Korean Patients With Duchenne Muscular Dystrophy: Comparison of Foreign and Korean Reference Data

Bang TS, Choi WH, Kim SH, Lee JS, Kim SY, Shin MJ, Shin YB

OBJECTIVE: To determine the abnormal pulmonary function value in Korean Duchenne muscular dystrophy (DMD) patients, we performed a comparative analysis of the patients' pulmonary function value expressed as % of...
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Therapeutic drug monitoring of vancomycin in a patient with Duchenne muscular dystrophy (DMD): A case report

Lee SW, Yoon S, Yu KS, Lee S

Vancomycin is a widely used glycopeptide antibiotic that requires therapeutic drug monitoring (TDM) owing to its narrow therapeutic window. It is primarily eliminated by renal excretion; thus, estimating the renal...
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Early Marker of Myocardial Deformation in Children with Duchenne Muscular Dystrophy Assessed Using Echocardiographic Myocardial Strain Analysis

Jo WH, Eun LY, Jung JW, Choi JY, Gang SW

PURPOSE: As cardiomyopathy is more prevalent and currently the leading cause of death in Duchenne muscular dystrophy (DMD), early detection of myocardial involvement is important. The purpose of this study...
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Activation of the wnt/β-Catenin Signaling Pathway in Polymyositis, Dermatomyositis and Duchenne Muscular Dystrophy

Liu F, Liang Z, Xu J, Li W, Zhao D, Zhao Y, Yan C

BACKGROUND AND PURPOSE: The wnt/β-catenin signaling pathway plays a critical role in embryonic development and adult-tissue homeostasis. Recent investigations implicate the importance of wnt/β-catenin signaling in normal wound healing and...
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Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)

Kim HY, Park CH, Lee SJ, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, Korean Association of External Quality Assessment Service

The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated...
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Comparison of Pulmonary Functions at Onset of Ventilatory Insufficiency in Patients With Amyotrophic Lateral Sclerosis, Duchenne Muscular Dystrophy, and Myotonic Muscular Dystrophy

Cho HE, Lee JW, Kang SW, Choi WA, Oh H, Lee KC

OBJECTIVE: To evaluate pulmonary functions of patients with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), and myotonic muscular dystrophy (MMD) at the onset of ventilatory insufficiency. METHODS: This retrospective study...
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