PURPOSE: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data. MATERIALS AND METHODS: To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared. RESULTS: We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration. CONCLUSION: In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.
Academies and Institutes ; Asian Continental Ancestry Group ; DNA ; Humans ; Korea ; Methods ; Paraffin ; Point Mutation ; Precision Medicine ; Prevalence

No abstract available.
Hemangiosarcoma

BACKGROUND AND PURPOSE: Hand tremor is one of the most frequent symptoms in movement disorders, and differential diagnoses for hand tremor include Parkinson's disease (PD) and essential tremor (ET). However, accurately differentiating between PD and ET in clinical practice remains challenging in patients presenting with hand tremor. We investigated whether a questionnaire-based survey could be useful as a screening tool in patients with hand tremor. METHODS: A questionnaire related to hand tremor consisting of 12 items was prospectively applied to patients with PD or ET in three movement-disorder clinics. Each question was analyzed, and a query-based scoring system was evaluated for differentiating hand tremors between PD and ET. RESULTS: This study enrolled 24 patients with PD and 25 patients with ET. Nine of the 12 questions differed significantly between PD and ET: 1 about resting tremor, 4 questions about action tremor, and 4 about asymmetry. A receiver operating characteristics curve analysis revealed that the 9-item questionnaire showed a good discrimination ability, with a sensitivity of 88% and a specificity of 84%. CONCLUSIONS: The developed Hand Tremor Questionnaire might be a good screening tool for hand tremors in patients with PD and ET.
Diagnosis, Differential ; Discrimination (Psychology) ; Essential Tremor* ; Hand* ; Humans ; Mass Screening* ; Movement Disorders ; Parkinson Disease* ; Prospective Studies ; ROC Curve ; Sensitivity and Specificity ; Tremor*

BACKGROUND AND OBJECTIVES: It is controversial that decreased left ventricular function could predict poststroke outcomes. The purpose of this study is to elucidate whether left ventricular ejection fraction (LVEF) can predict cardiovascular events and mortality in acute ischemic stroke (AIS) without atrial fibrillation (AF) and coronary heart disease (CHD). METHODS: Transthoracic echocardiography was conducted consecutively in patients with AIS or transient ischemic attack at Soonchunhyang University Hospital between January 2008 and July 2016. The clinical data and echocardiographic LVEF of 1,465 patients were reviewed after excluding AF and CHD. Poststroke disability, major adverse cardiac events (MACE; nonfatal stroke, nonfatal myocardial infarction, and cardiovascular death) and all-cause mortality during 1 year after index stroke were prospectively captured. Cox proportional hazards regressions analysis were applied adjusting traditional risk factors and potential determinants. RESULTS: The mean follow-up time was 259.9±148.8 days with a total of 29 non-fatal strokes, 3 myocardial infarctions, 33 cardiovascular deaths, and 53 all-cause mortality. The cumulative incidence of MACE and all-cause mortality were significantly higher in the lowest LVEF ( < 55) group compared with the others (p=0.022 and 0.009). In prediction models, LVEF (per 10%) had hazards ratios of 0.54 (95% confidence interval [CI], 0.36–0.80, p=0.002) for MACE and 0.61 (95% CI, 0.39–0.97, p=0.037) for all-cause mortality. CONCLUSIONS: LVEF could be an independent predictor of cardiovascular events and mortality after AIS in the absence of AF and CHD.
Atrial Fibrillation ; Coronary Disease ; Echocardiography ; Follow-Up Studies ; Humans ; Incidence ; Ischemic Attack, Transient ; Mortality ; Myocardial Infarction ; Prospective Studies ; Risk Factors ; Stroke ; Stroke Volume ; Ventricular Function, Left

BACKGROUND AND OBJECTIVES: It is controversial that decreased left ventricular function could predict poststroke outcomes. The purpose of this study is to elucidate whether left ventricular ejection fraction (LVEF) can predict cardiovascular events and mortality in acute ischemic stroke (AIS) without atrial fibrillation (AF) and coronary heart disease (CHD). METHODS: Transthoracic echocardiography was conducted consecutively in patients with AIS or transient ischemic attack at Soonchunhyang University Hospital between January 2008 and July 2016. The clinical data and echocardiographic LVEF of 1,465 patients were reviewed after excluding AF and CHD. Poststroke disability, major adverse cardiac events (MACE; nonfatal stroke, nonfatal myocardial infarction, and cardiovascular death) and all-cause mortality during 1 year after index stroke were prospectively captured. Cox proportional hazards regressions analysis were applied adjusting traditional risk factors and potential determinants. RESULTS: The mean follow-up time was 259.9±148.8 days with a total of 29 non-fatal strokes, 3 myocardial infarctions, 33 cardiovascular deaths, and 53 all-cause mortality. The cumulative incidence of MACE and all-cause mortality were significantly higher in the lowest LVEF ( < 55) group compared with the others (p=0.022 and 0.009). In prediction models, LVEF (per 10%) had hazards ratios of 0.54 (95% confidence interval [CI], 0.36–0.80, p=0.002) for MACE and 0.61 (95% CI, 0.39–0.97, p=0.037) for all-cause mortality. CONCLUSIONS LVEF could be an independent predictor of cardiovascular events and mortality after AIS in the absence of AF and CHD.

OBJECTIVE: We aimed to investigate the effect of ropinirole on excessive daytime sleepiness (EDS) and depression in Parkinson’s disease (PD) with a large population. METHODS: We conducted a cross-sectional observational study at nine hospitals in Korea between April 24, 2013, and April 22, 2015. We analyzed the demographic and clinical features, other medical history, history of antiparkinsonian medication within 6 months, Hoehn and Yahr stage (HY stage), Unified Parkinson’s Disease Rating Scale (UPDRS) part II and III, Epworth Sleepiness Scale (ESS), and 30-item Geriatric Depression Scale (GDS-30). RESULTS: Four-hundred-thirteen patients with PD (mean age: 65.2 ± 9.0 years; men: 227 patients) were analyzed. Multivariate logistic regression analysis showed that age at examination, UPDRS II, and GDS-30 were independent risk factors for EDS and that sex, UPDRS II, and ESS were independent risk factors for depression. CONCLUSION: Our large group study did not find any significant associations of ropinirole with EDS and depression in Korean PD patients.
Depression* ; Humans ; Korea ; Levodopa* ; Logistic Models ; Male ; Observational Study ; Parkinson Disease* ; Risk Factors

It can be difficult to distinguish posttraumatic stress disorder (PTSD) from malingering because a person's responses after experiencing trauma depend on self-report, such as subjective complaints, and it is easy to find the diagnostic criteria for PTSD through the internet or other mass media. Therefore, it is important for clinicians to perceive patients' motivations and determine whether they have external incentives. We reviewed clinicians' and patients' interview styles, which can be useful for reducing malingering intent and detecting malingering patterns. To help clinicians differentiate PTSD from malingering, we also reviewed the diagnostic criteria (re-experience, avoidance and numbing, and hyperarousal) and the typical symptoms of true and malingered PTSD.
Internet ; Malingering ; Mass Media ; Motivation ; Stress Disorders, Post-Traumatic

Behcet's disease has been recognized as a systemic vasculitis characterized by the involvement of multiple organs such as orogenital ulcers, eye lesions including uveitis and optic neuritis, and skin lesions including folliculitis and erythema nodosum. Vascular involvement occurs occasionally and is classified into thrombosis and aneurysm. However, massive gastrointestinal bleeding from arterial aneurysm is a rare manifestation of intestinal Behcet's disease. Recently, we experienced a case of intestinal Behcet's disease presenting with massive gastrointestinal bleeding due to aneurysmal rupture of ileo-colic artery. A 30-year-old male with Behcet's disease was admitted because of massive gastrointestinal bleeding. A large ileo-cecal ulcer was revealed as a bleeding focus on colonoscopic examination. Celiac angiography showed aneurysm and stenosis of ileo-colic artery. After the failure of hemostasis with arterial embolization, ileocecectomy was performed. After the resection hematochezia was completely stopped.
Adult ; Aneurysm, Ruptured/complications/*diagnosis ; Behcet Syndrome/complications/*diagnosis ; Cecum/*blood supply/pathology/surgery ; Celiac Artery/radiography ; Colonoscopy ; Gastrointestinal Hemorrhage/*diagnosis/etiology ; Humans ; Ileum/*blood supply/pathology/surgery ; Male ; Tomography, X-Ray Computed

BACKGROUND: The balances of the proteinases and antiproteinases system have been implicated in the pathogenesis of various exudative pleural effusions. The aim of this study was to examine the matrix metalloproteinase-1 (MMP-1) and tissue inhibitor of metalloproteinase-1 (TIMP-1) levels in exudative pleural effusions. METHODS: The study included 33 tuberculous effusions, 17 malignant, and 5 transudates. The pleural levels of MMP-1 and TIMP-1 were determined using a commercially available ELISA assay. RESULTS: The group of tuberculous effusions showed higher pleural MMP-1 levels than the malignant and transudates. The pleural TIMP-1 levels of the tuberculous and malignant effusions were higher than the transudates. CONCLUSION: Elevated pleural MMP-1 and TIMP-1 levels were found in tuberculous effusions.
Enzyme-Linked Immunosorbent Assay ; Exudates and Transudates ; Matrix Metalloproteinase 1* ; Peptide Hydrolases ; Pleural Effusion* ; Tissue Inhibitor of Metalloproteinase-1*

PURPOSE: Cystic neoplasms in the liver are rarely seen tumors. Biliary cystadenoma and cystadenocarcinoma constitute less than 5% of intrahepatic cysts originating from the bile duct. The clinicopathologic and radiologic findings are important to arrive at the proper diagnosis and treatment of intrahepatic biliary cystadenoma and cystadenocarcinoma. The aims of this study were to characterize the clinical and pathologic aspects of these lesions, and also to discuss the treatment and prognosis of biliary cystadenoma and cystadenocarcinoma. METHODS: We reviewed the clinical records of six patients who had intrahepatic biliary cystadenoma and cystadenocarcinoma and who had undergone operations from January, 1986 to June, 2002 at Hanyang University Hospital. RESULTS: Primary biliary cystadenoma and cystadenocarcinoma of the intrahepatic biliary systems are rarely seen tumors. Biliary cystadenoma mainly affected women, and this was a different gender preponderance than was seen for biliary cystadenocarcinoma. We found no signs or symptoms that were specific for either of these tumors, and the diagnoses were usually made by abdominal CT and abdominal ultrasonography. These tumors were usually large, multilocular and cystic in appearance. The pathologic findings revealed multiple cystic masses lined with cuboidal to columnar epithelium. The nature of the cystic fluid was usually the mucous type. Of the 6 patients in whom the lesions were completely excised, 4 of the patients are alive. The other 2 patients died of old age and distant metastasis, respectively. CONCLUSION: Surgical resection of the tumor, including a margin of surrounding normal liver parenchyma, was the only curative method. If the tumor is confined in the liver, complete surgical excision yields an excellent prognosis. Complete resection of a biliary cystadenoma and radical resection of a biliary cystadenocarcinoma seem to offer these patients a chance for long-term survival.
Bile Ducts ; Biliary Tract ; Cystadenocarcinoma* ; Cystadenoma* ; Diagnosis ; Epithelium ; Female ; Humans ; Liver* ; Neoplasm Metastasis ; Prognosis ; Tomography, X-Ray Computed ; Ultrasonography