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Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics

Lee WW, Choi JM, Lee CG

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa...
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Work-Related Risk Factors of Knee Meniscal Tears in Korean Farmers: A Cross-Sectional Study

Hong CY, Lee CG, Kim DH, Cho YS, Kim KY, Ryu SY, Song HS

Background Meniscal tears are among the major risk factors for knee osteoarthritis progression. This study aimed to investigate the relationship between meniscal tears and work-related factors in the farming occupation. Methods The participants...
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Factors related to femoral bowing among Korean female farmers: a cross-sectional study

Do S, Lee CG, Kim DH, Lee G, Kim KY, Ryu SY, Song H

Background: Female farmers have a high prevalence of knee osteoarthritis (KOA) in South Korea. Femoral bowing has been reported to be related to KOA by increasing load on the mechanical...
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The role of salvage radiotherapy in recurrent thymoma

Yang AJ, Choi SH, Byun HK, Kim HJ, Lee CG, Cho J

PURPOSE: To explore the role of salvage radiotherapy (RT) for recurrent thymoma as an alternative to surgery. MATERIALS AND METHODS: Between 2007 and 2015, 47 patients who received salvage RT for...
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Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Lee D, Jang JH, Lee CG

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It...
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Management of Clinical T1N0M0 Esophageal Cancer

Yang AJ, Choi SH, Byun HK, Kim HJ, Choi J, Lee YC, Lee SK, Park KR, Lee CG

BACKGROUND/AIMS: Endoscopic resection is a standard treatment for stage T1a esophageal cancer, with esophagectomy or radical radiation therapy (RT) performed for stage T1b lesions. This study aimed to compare treatment...
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COPD as a Disease of Immunosenescence

Cho WK, Lee CG, Kim LK

Although chronic obstructive pulmonary disease (COPD) is regarded as a chronic inflammatory lung disease, the disease mechanism is still not known. Intriguingly, aging lungs are quite similar to COPD-affected lungs...
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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The Effect of Hospital Case Volume on Clinical Outcomes in Patients with Nasopharyngeal Carcinoma: A Multi-institutional Retrospective Analysis (KROG-1106)

Ha B, Cho KH, Moon SH, Lee CG, Keum KC, Kim YS, Wu HG, Kim JH, Ahn YC, Oh D, Noh JM, Lee JH, Kim SH, Kim WT, Oh YT, Kang MK, Kim JH, Kim JY, Cho MJ, Kay CS, Choi JH

PURPOSE: The purpose of this study was to investigate the effect of hospital case volume on clinical outcomes in patients with nasopharyngeal carcinoma (NPC). MATERIALS AND METHODS: Data on 1,073 patients...
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Effects of work-related factors on self-reported smoking among female workers in call centers: a cross-sectional study

Yang YJ, Moon YH, Do SY, Lee CG, Song HS

OBJECTIVES: This study conducted to investigate work-related factors in relation to smoking among women working in call centers in Gwangju, South Korea. METHODS: From 56 call centers (7320 employees), we selected...
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Evaluation of the prevalence of musculoskeletal symptoms, presumptive diagnosis, medical care use, and sick leave among female school meal service workers

Moon YH, Yang YJ, Do SY, Kim JY, Lee CG, Chae HJ, Kim SH, Song HS

BACKGROUND: Most of the school meal service workers in Korea are middle-aged individuals. They have high workload, which increases their incidence of musculoskeletal disorders. This study aimed to evaluate the...
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A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong S, Lee CG

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused...
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Successful Remission of Recurrent Anaphylaxis after Omalizumab Administration in a Patient with Systemic Mastocytosis

Moon H, Jang HJ, Lee CG, Kim YC, Yoo SH, Lee DS, Kang HR

Mastocytosis is a disorder characterized by abnormal mast cell proliferation and accumulation in one or more tissues. It presents in two major variants: cutaneous mastocytosis and systemic mastocytosis. Because the...
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Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

Jang MJ, Lee CG, Kim HJ

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM...
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Elective neck treatment in clinically node-negative paranasal sinus carcinomas: impact on treatment outcome

Lee WH, Choi SH, Kim SH, Choi EC, Lee CG, Keum KC

PURPOSE: The indication of elective neck treatment (ENT) for clinically N0 (cN0) paranasal sinus (PNS) carcinoma remains unclear. We aimed to investigate different treatment outcomes regarding ENT and propose optimal...
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Survival and Functional Outcome after Treatment for Primary Base of Tongue Cancer: A Comparison of Definitive Chemoradiotherapy versus Surgery Followed by Adjuvant Radiotherapy

Park S, Cho Y, Lee J, Koh YW, Kim SH, Choi EC, Kim HR, Keum KC, Park KR, Lee CG

PURPOSE: The purpose of this study was to compare the clinical and functional outcomes in patients with primary base of tongue (BOT) cancer who received definitive radiotherapy (RT) or surgery followed...
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Radiotherapy Versus Cordectomy in the Management of Early Glottic Cancer

Chung SY, Kim KH, Keum KC, Koh YW, Kim SH, Choi EC, Lee CG

PURPOSE: The purpose of this study was to compare the treatment outcomes of definitive radiotherapy (RT) with cordectomy in patients with early glottic cancer. MATERIALS AND METHODS: A total of 165...
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The Associated Factors with Scaling Experience among Some Workers in Small and Medium-Sized Companies

Lee JR, Han MA, Park J, Ryu SY, Lee CG, Moon SE

The prevalence of periodontal disease was steadily increased. The best prevention methods for periodontal disease are teeth brushing and scaling. The purpose of this study was to investigate the status...
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Dose-Response Relationship between Radiation Dose and Loco-regional Control in Patients with Stage II-III Esophageal Cancer Treated with Definitive Chemoradiotherapy

Kim HJ, Suh YG, Lee YC, Lee SK, Shin SK, Cho BC, Lee CG

PURPOSE: The correlation between radiation dose and loco-regional control (LRC) was evaluated in patients with stage II-III esophageal cancer treated with definitive concurrent chemoradiotherapy (CRT). MATERIALS AND METHODS: Medical records of...
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Predictive factors of symptomatic radiation pneumonitis in primary and metastatic lung tumors treated with stereotactic ablative body radiotherapy

Kim K, Lee J, Cho Y, Chung SY, Lee JJ, Lee CG, Cho J

PURPOSE: Although stereotactic ablative body radiotherapy (SABR) is widely used therapeutic technique, predictive factors of radiation pneumonitis (RP) after SABR remain undefined. We aimed to investigate the predictive factors affecting...
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