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Objectives: This study aimed to characterize radiation dose during cardiac catheterization in congenital heart disease and to assess changes in dose after the introduction of a radiation monitoring policy. Background: Minimizing radiation exposure is an important patient safety initiative and relatively few data are available characterizing radiation dose for the broad spectrum of congenital cardiac catheter‐based interventions. Methods: Radiation dose data were reviewed on all cases since 7/1/05 at a single large center. Procedures were classified according to 20 common case types then subdivided into five age categories. Groups with <20 cases were excluded. Radiation dose was estimated by cumulative air KERMA (mGy) and DAP (dose area product, μGym2) which were reported as median and interquartile range (IQR). We also examined differences in radiation dose before and after the implementation of a radiation policy. Results: Between 7/1/05 and 12/10/08, 3,365 cases were identified for inclusion. Radiation dose increased with age and procedural complexity. Patients were characterized into low, medium, and high dose categories relative to each other. “Low” dose cases included isolated pulmonary or aortic valvotomy, pre‐Fontan assessment, and ASD closure. “High” dose cases involved multiple procedures in pulmonary arteries or veins. After introduction of a radiation policy, there was a significant decrease in radiation dose across a variety of case types, particularly among infants and young children. Conclusions: Radiation dose in congenital cardiac catheterization varies by age and procedure type. A radiation monitoring and notification policy may have contributed to reduced radiation dose. © 2011 Wiley Periodicals, Inc.  相似文献   
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Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults. The biologic basis of ALS remains unknown. However, ALS research has taken a dramatic turn over the past 4 years. Ground breaking discoveries of mutations of genes that encode RNA processing proteins, and demonstration that abnormal aggregates of these and other proteins precede motor neuron loss in familial and sporadic ALS, have initiated a paradigm shift in understanding the pathogenic mechanisms of ALS. Curiously, some of these RNA binding proteins have prion‐like domains, with a propensity to self‐aggregation. The emerging hypothesis that a focal cascade of toxic protein aggregates, and their consequent non–cell‐autonomous spread to neighborhood groups of neurons, fits the classical temporo‐spatial progression of ALS. This article reviews the current research efforts toward understanding the role of RNA‐processing regulation and protein aggregates in ALS. Muscle Nerve 47:330‐338, 2013  相似文献   
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This is a critical time in neurotherapeutics. The prevalence of neurological disease, such as dementia, stroke, and peripheral neuropathy, is large and growing consequent to the aging population. The personal and societal impact of these disorders is enormous, and the number of novel therapies in the pipeline for these disorders has been contracting. Support for the development of neurotherapies must continue from the bench to their ultimate place at the bedside. Academic medicine must continue to play a critical role, in league with industry and government, in the development of novel neurotherapies desperately needed by an ever‐expanding population. Critical steps include the identification and adoption of reliable, valid, and reproducible biomarkers to serve as primary endpoints in clinical trials of neurological disease. Ann Neurol 2013;74:441–446  相似文献   
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Numerous scales assess dyskinesia in Parkinson's disease (PD), variably focusing on anatomical distribution, phenomenology, time, severity, and disability. No study has compared these scales and their relative ability to detect change related to an established treatment. We conducted a randomized placebo‐controlled trial of amantadine, assessing dyskinesia at baseline and at 4 and 8 weeks using the following scales: Unified Dyskinesia Rating Scale (UDysRS), Lang‐Fahn Activities of Daily Living Dyskinesia Rating Scale (LF), 26‐Item Parkinson's Disease Dyskinesia scale (PDD‐26), patient diaries, modified Abnormal Involuntary Movements Scale (AIMS), Rush Dyskinesia Rating Scale (RDRS), dyskinesia items from the Movement Disorder Society–sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS‐UPDRS), and Clinical Global Impression (severity and change: CGI‐S, CGI‐C). Scale order was randomized at each visit, but raters were aware of each scale as it was administered. Sensitivity to treatment was assessed using effect size. Sixty‐one randomized dyskinetic PD subjects (31 amantadine, 30 placebo) completed the study. Four of the 8 scales (CGI‐C, LF, PDD‐26, and UDysRS) detected a significant treatment. The UDysRS Total Score showed the highest effect size (η2 = 0.138) for detecting treatment‐related change, with all other scales having effect sizes < 0.1. No scale was resistant to placebo effects. This study resolves 2 major issues useful for future testing of new antidyskinesia treatments: among tested scales, the UDysRS, having both subjective and objective dyskinesia ratings, is superior for detecting treatment effects; and the magnitude of the UDysRS effect size from amantadine sets a clear standard for comparison for new agents. © 2012 Movement Disorder Society  相似文献   
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Male breast cancer (MBC) is unusual, especially in young adults. Most cases of MBC as a secondary malignancy relate to the previous treatment with ionizing radiation. MBC can be associated with mutations in hereditary cancer predisposition syndrome genes (i.e., BRCA2); however, no such association has been reported in patients with Cowden syndrome (involving the phosphatase and tensin homolog [PTEN] gene). We describe a patient with Cowden syndrome who was initially diagnosed with B‐cell lymphoblastic lymphoma at the age of 7 years, then MBC at the age of 31 years, and never received radiation therapy.  相似文献   
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