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Haoyue Zhang Helmut Kallwass Sarah P Young Cortney Carr Jian Dai Priya S Kishnani David S Millington Joan Keutzer Yuan-Tsong Chen Deeksha Bali 《Genetics in medicine》2006,8(5):302-306
PURPOSE: The study's purpose was to compare acarbose and maltose as inhibitors of maltase-glucoamylase activity for determining acid alpha-glucosidase activity in dried blood spot specimens for early identification of patients with infantile Pompe disease, a severe form of acid alpha-glucosidase deficiency. METHODS: Acid alpha-glucosidase activities in dried blood spot extracts were determined fluorometrically using the artificial substrate 4-methylumbelliferyl-alpha-D-pyranoside. Acarbose or maltose was used to inhibit maltase-glucoamylase, an enzyme present in polymorphonuclear neutrophils that contributes to the total alpha-glucosidase activity at acidic pH. RESULTS: Complete discrimination between patients with proven infantile Pompe disease (n = 20), obligate heterozygotes (n = 16), and controls (n = 150) was achieved using 8 micromol/L acarbose as the inhibitor. Higher acarbose concentration (80 micromol/L) did not improve the assay. By using 4 mM maltose as the inhibitor, heterozygotes and patients were not completely separated. The results using acarbose compared well with those using the skin fibroblast assay in the same group of patients with proven infantile Pompe disease. CONCLUSION: Acid alpha-glucosidase activity measurements in dried blood spot extracts can reliably detect infantile Pompe disease in patients. The convenience of collecting and shipping dried blood specimens plus rapid turnaround time makes this assay an attractive alternative to established methods. 相似文献
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Amber Sieja Eric Kim Heather Holmstrom Stephen Rotholz Chen Tan Lin Christine Gonzalez Cortney Arellano Sarah Hutchings Denise Henderson Katie Markley 《Applied clinical informatics》2021,12(2):329
Objective The objective of the study was to highlight and analyze the outcomes of software configuration requests received from Sprint, a comprehensive, clinic-centered electronic health record (EHR) optimization program. Methods A retrospective review of 1,254 Sprint workbook requests identified (1) the responsible EHR team, (2) the clinical efficiency gained from the request, and (3) the EHR intervention conducted. Results Requests were received from 407 clinicians and 538 staff over 31 weeks of Sprint. Sixty-nine percent of the requests were completed during the Sprint. Of all requests, 25% required net new build, 73% required technical investigation and/or solutions, and 2% of the requests were escalated to the vendor. The clinical specialty groups requested a higher percentage of items that earned them clinical review (16 vs. 10%) and documentation (29 vs. 23%) efficiencies compared with their primary care colleagues who requested slightly more order modifications (22 vs. 20%). Clinical efficiencies most commonly associated with workbook requests included documentation (28%), ordering (20%), in basket (17%), and clinical review (15%). Sprint user requests evaluated by ambulatory, hardware, security, and training teams comprised 80% of reported items. Discussion Sprint requests were categorized as clean-up, break-fix, workflow investigation, or new build. On-site collaboration with clinical care teams permitted consensus-building, drove vetting, and iteration of EHR build, and led to goal-driven, usable workflows and EHR products. Conclusion This program evaluation demonstrates the process by which optimization can occur and the products that result when we adhere to optimization principles in health care organizations. 相似文献
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Wendi L. Lopez Larry L. Mullins Cortney Wolfe-Christensen Teri Bourdeau 《Children's Health Care》2013,42(3):171-182
The purpose of this study was to examine the relation of perceived child vulnerability (PCV) and parental psychological distress (PPD) to adolescent anxiety (AANX) in youths with chronic illnesses. Ninety-one (n = 91) adolescents diagnosed with either type 1 diabetes mellitus (DM1) or asthma and their parents were recruited as part of a larger study examining parent and child adjustment to chronic illness. Adolescents completed a measure of anxiety, and parents completed measures of PCV and PPD. After controlling for multiple demographic and illness parameters, both PPD and PCV significantly predicted AANX. Further analysis indicated that the relation between PPD and AANX was mediated by PCV. These findings suggest that parent-reported psychological distress is associated with adolescent-reported anxiety. Notably, PCV appears to be a possible mechanism by which PPD influences anxiety in adolescents with chronic illnesses. Clinical relevance, study limitations, directions for future research, and implications for practice are discussed. 相似文献
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