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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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Predictors of early postoperative hypocalcemia after total parathyroidectomy in renal hyperparathyroidism

Tan PG, Ab. Hadi I, Zahari Z, Yahya MM, Wan Zain W, Wong MP, Ramely R, Md Hashim , Syed Abd. Aziz SH, Zakaria Z, Zakaria AD

PURPOSE: Patients with secondary hyperparathyroidism are at high risk for developing postoperative hypocalcemia. However, there are limited data regarding predictors of postoperative hypocalcemia in renal failure patient with secondary hyperparathyroidism....
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Effect of Sensory Impairment on Balance Performance and Lower Limb Muscle Strength in Older Adults With Type 2 Diabetes

Kraiwong R, Vongsirinavarat M, Hiengkaew , von Heideken WÃ¥gert P

OBJECTIVE: To compare balance performance and lower limb muscle strength between older adults with type 2 diabetes mellitus (DM), with and without sensory impairments and non-DM groups. Influence of a...
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Paraneoplastic Dermatomyositis with Severe Itching

Oh JH, Park HJ, Choi M, Park HJ

  • KMID: 2457692
  • Korean J Dermatol.
  • 2019 Aug;57(7):395-398.
Dermatomyositis (DM) is an idiopathic inflammatory myopathy characterized by typical cutaneous manifestation and inflammation of the skeletal muscles. However, this progressive symmetric proximal muscle weakness may be minimal or absent...
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Dysphagia as a Clinical Manifestation of Monoclonal Gammopathy of Undetermined Significance: A Case Report

Koo H, Park GY, Han Y, Jeong S, Im S

Swallowing can be affected by a variety of systemic diseases. The etiology of dysphagia in the geriatric population is usually overlooked due mainly to a presumed diagnosis of presbyphagia or...
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Neuromyositis: A Rare Extramuscular Manifestation of Dermatomyositis

Park CK, Yoo SJ, Yoo IS, Kim J, Shim SC, Kang SW

Dermatomyositis (DM) and polymyositis (PM) are representative idiopathic inflammatory myopathies characterized by symmetric and progressive proximal muscle weakness. Especially, DM is identified by characteristic skin lesions and has many extramuscular...
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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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A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress

Namgung DW, Hong JM, Lee JH, Park HJ, Choi YC

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent...
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A Phase II Study to Evaluate the Safety and Efficacy of Pegteograstim in Korean Breast Cancer Patients Receiving Dose-Dense Doxorubicin/Cyclophosphamide

Kim GM, Kim JH, Kim JH, Cho YU, Kim SI, Park S, Park HS, Kim JY, Sohn J

PURPOSE: Dose-dense chemotherapy (DD-CT) is a preferred (neo)adjuvant regimen in early breast cancer (BC). Although the results of reported randomized trials are conflicting, a recent meta-analysis showed improved overall and...
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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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Pulmonary and Physical Rehabilitation in Critically Ill Patients

Jang MH, Shin MJ, Shin YB

Some patients admitted to the intensive care unit (ICU) because of an acute illness, complicated surgery, or multiple traumas develop muscle weakness affecting the limbs and respiratory muscles during acute...
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Treadmill Exercise Ameliorates Chemotherapy-Induced Muscle Weakness and Central Fatigue by Enhancing Mitochondrial Function and Inhibiting Apoptosis

Park SS, Park HS, Jeong H, Kwak HB, No MH, Heo JW, Yoo SZ, Kim TW

PURPOSE: Chemotherapy is associated with the side effects including damage to the mitochondrial DNA. Doxorubicin (DOX) serves as a chemotherapeutic agent for the patients with breast cancer or prostate cancer....
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Anesthetic considerations for a patient with myasthenia gravis undergoing deep sedation in an outpatient oral surgery setting

Prabhu SS, Khan SA, Doudnikoff AL, Reebye UN

Myasthenia gravis (MG) is a neuromuscular autoimmune disorder which clinically presents as muscular weakness and fatigue due to autoantibody formation against acetylcholine receptors (AChR), leading to their subsequent destruction. Due...
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A Case of Gait Disturbance Resolved with Hysterectomy in a Woman

Chung SH

Uterine leiomyoma is the most common benign tumors in females and varies widely in size. Lumbosacral plexopathy is a rare disorder characterized by a sudden onset of leg paresthesia, muscle...
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A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

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...
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Severe Hypophosphatemia-Induced Acute Toxic-Metabolic Encephalopathy in Continuous Renal Replacement Therapy

Han SA, Park HY, Kim HW, Choi JI, Kang DY, Kim HL, Chung JH, Shin BC

Acute toxic-metabolic encephalopathy (TME) is an acute condition of global cerebral dysfunction in the absence of primary structural brain disease. Severe hypophosphatemia leads to muscle weakness and involves the diaphragm...
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Brachial plexus impingement secondary to implantable cardioverter defibrillator: A case report

Jumper N, Radotra I, Witt P, Campbell N, Mishra A

Overall complication rates of 9.1% have been reported following implantable cardioverter defibrillator (ICD) placement. Brachial plexus injury is infrequently reported in the literature. We describe a 26-year-old female experiencing left...
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Acetazolamide-Induced Type II Renal Tubular Acidosis and Muscle Weakness

Bin CH, Kim JH

No abstract available.
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The Effect of Lower Extremity Strengthening Exercise Using Sliding Stander on Balance and Spasticity in Chronic Stroke: A Randomized Clinical Trial

Mun BM, Park J, Kim TH

PURPOSE: Generally, patients with stroke present with decreased balance and increased spasticity following weakness of the paralyzed muscles. Muscle weakness caused by stroke has two causes. This is caused by...
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A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation

Park YE, Son HJ, Lee CH, Shin JH, Kim DS

Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype,...
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