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*

OBJECTIVE: Postural instability and gait disturbance are the cardinal symptoms associated with falling among patients with Parkinson’s disease (PD). The Tinetti mobility test (TMT) is a well-established measurement tool used to predict falls among elderly people. However, the TMT has not been established or widely used among PD patients in Korea. The purpose of this study was to evaluate the reliability and validity of the Korean version of the TMT for PD patients. METHODS: Twenty-four patients diagnosed with PD were enrolled in this study. For the interrater reliability test, thirteen clinicians scored the TMT after watching a video clip. We also used the test-retest method to determine intrarater reliability. For concurrent validation, the unified Parkinson’s disease rating scale, Hoehn and Yahr staging, Berg Balance Scale, Timed-Up and Go test, 10-m walk test, and gait analysis by three-dimensional motion capture were also used. We analyzed receiver operating characteristic curve to predict falling. RESULTS: The interrater reliability and intrarater reliability of the Korean Tinetti balance scale were 0.97 and 0.98, respectively. The interrater reliability and intra-rater reliability of the Korean Tinetti gait scale were 0.94 and 0.96, respectively. The Korean TMT scores were significantly correlated with the other clinical scales and three-dimensional motion capture. The cutoff values for predicting falling were 14 points (balance subscale) and 10 points (gait subscale). CONCLUSION: We found that the Korean version of the TMT showed excellent validity and reliability for gait and balance and had high sensitivity and specificity for predicting falls among patients with PD.
Accidental Falls ; Aged ; Gait ; Humans ; Korea ; Methods ; Parkinson Disease ; Reproducibility of Results ; ROC Curve ; Sensitivity and Specificity ; Weights and Measures

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate these types of MPNSTs. MATERIALS AND METHODS: The study reviewed 95 patients diagnosed with and treated for MPNST at Yonsei University Health System, Seoul, Korea over a 27-year period. The clinical characteristics, prognostic factors, and treatment outcomes of sporadic MPNST (sMPNST) and NF-1 associated MPNST (NF-MPNST) cases were compared. RESULTS: Patients with NF-MPNST had a significantly lower median age (32 years vs. 45 years for sMPNST, p=0.012), significantly larger median tumor size (8.2 cm vs. 5.0 cm for sMPNST, p < 0.001), and significantly larger numbers of imaging studies and surgeries (p=0.004 and p < 0.001, respectively). The 10-year overall survival (OS) rate of the patients with MPNST was 52±6%. Among the patients with localized MPNST, patients with NF-MPNST had a significantly lower 10-year OS rate (45±11% vs. 60±8% for sMPNST, p=0.046). Univariate analysis revealed the resection margin, pathology grade, and metastasis to be significant factors affecting the OS (p=0.001, p=0.020, and p < 0.001, respectively). Multivariate analysis of the patients with localized MPNST identified R2 resection and G1 as significant prognostic factors for OS. CONCLUSION: NF-MPNST has different clinical features from sMPNST and requires more careful management. Further study will be needed to develop specific management plans for NF-MPNST.
Humans ; Korea ; Multivariate Analysis ; Neoplasm Metastasis ; Neurilemmoma* ; Neurofibromatoses* ; Neurofibromatosis 1* ; Pathology ; Sarcoma ; Seoul

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

Respiratory syncytial virus (RSV) typically causes lower respiratory tract infections in children, and most patients recover successfully. However, some infants and young children can have a severe course of disease with respiratory failure, and extrapulmonary manifestations can occur in severe RSV disease. We report one case of severe RSV bronchiolitis complicated with acute myocarditis, fulminant hepatic failure, and disseminated intravascular coagulation.
Bronchiolitis ; Child ; Disseminated Intravascular Coagulation ; Humans ; Infant ; Liver Failure ; Liver Failure, Acute ; Myocarditis ; Respiratory Insufficiency ; Respiratory Syncytial Viruses* ; Respiratory Tract Infections

Respiratory syncytial virus (RSV) typically causes lower respiratory tract infections in children, and most patients recover successfully. However, some infants and young children can have a severe course of disease with respiratory failure, and extrapulmonary manifestations can occur in severe RSV disease. We report one case of severe RSV bronchiolitis complicated with acute myocarditis, fulminant hepatic failure, and disseminated intravascular coagulation.
Bronchiolitis ; Child ; Disseminated Intravascular Coagulation ; Humans ; Infant ; Liver Failure ; Liver Failure, Acute ; Myocarditis ; Respiratory Insufficiency ; Respiratory Syncytial Viruses* ; Respiratory Tract Infections

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

Brunner's gland hyperplasia is a rare tumor of the duodenum and might also be an unusual cause of gastrointestinal bleeding. In symptomatic patients, treatment requires either surgical resection or endoscopic polypectomy. We report a case of upper gastrointestinal bleeding from a pedunculated Brunner's gland hyperplasia in the duodenal bulb. Endoscopic resection using the detachable snare and hemoclipping was instituted to remove a large pedunculated polyp. The pathologic diagnosis was Brunner's gland hyperplasia with adenomyomatous hyperplasia.
Adult ; Brunner Glands/*pathology/surgery ; Duodenum/*pathology ; Gastrointestinal Hemorrhage/etiology ; Humans ; Hyperplasia/complications/diagnosis/pathology ; Laparoscopy ; Male ; Precancerous Conditions/pathology ; Stents