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Glioblastoma (GBM) is the most common and aggressive primary brain tumor. To better understand how GBM evolves, we analyzed longitudinal genomic and transcriptomic data from 114 patients. The analysis shows a highly branched evolutionary pattern in which 63% of patients experience expression-based subtype changes. The branching pattern, together with(More)
Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome study to date that aims to identify differences in 170 ASD cases and 115 age/sex-matched controls and to evaluate the utility of(More)
Tumor recurrence following treatment is the major cause of mortality for glioblastoma multiforme (GBM) patients. Thus, insights on the evolutionary process at recurrence are critical for improved patient care. Here, we describe our genomic analyses of the initial and recurrent tumor specimens from each of 38 GBM patients. A substantial divergence in the(More)
OBJECTIVE We evaluated the clinical and laboratory effects of subcutaneously administered interferon-gamma (IFN-gamma) in the treatment of chronic and advanced multidrug-resistant tuberculosis (MDR-TB). DESIGN Eight patients with sputum smear and culture persistently positive MDR-TB were subcutaneously administered 2 million international units of(More)
Whole-genome sequencing (WGS) studies are uncovering disease-associated variants in both rare and nonrare diseases. Utilizing the next-generation sequencing for WGS requires a series of computational methods for alignment, variant detection, and annotation, and the accuracy and reproducibility of annotation results are essential for clinical implementation.(More)
PURPOSE Disease-causing mutations and pharmacogenomic variants are of primary interest for clinical whole-genome sequencing. However, estimating genetic liability for common complex diseases using established risk alleles might one day prove clinically useful. METHODS We compared polygenic scoring methods using a case-control data set with independently(More)
BACKGROUND & AIMS The I148M variant because of the substitution of C to G in PNPLA3 (rs738409) is associated with the increased risk of nonalcoholic fatty liver disease (NAFLD). In liver, I148M variant reduces hydrolytic function of PNPLA3, which results in hepatic steatosis; however, its association with the other clinical phenotype such as adiposity and(More)
[Purpose] The purpose of this study was to compare the gait parameters of age-matched people with a normal gait (≥ 65 years), age-matched people with knee pain, and age-matched people with walker dependent gait at a self-selected gait speed. [Methods] Subjects walked on even ground in bare feet and were allowed a natural arm swing on a 6-m walkway.(More)
[Purpose] Systemic lupus erythematosus (SLE) is a chronic, immune-mediated disease, affecting 0.1% of the general population. To date, few studies have investigated the efficacy of physical therapy for SLE patients with CNS involvement. The aim of this study was to report whether the combined use of corticosteroids and physical therapy, consisting of reflex(More)
[Purpose] Aging is associated with a progressive decline in overall muscle strength. Loss of lower limb strength leads to an increased risk of falls and a sedentary lifestyle. The purpose of this study was to investigate whether lower limb strengthening exercise leads to improved lower limb strength and balance function for the elderly. [Subjects] From a(More)