Objectives: Mucopolysaccharidosis II (MPS II), or Hunter Syndrome, is a lysosomal storage disorder that is caused by the deficiency or absence of iduronate-2-sulfatase (IDS) enzyme; in this disease, early diagnosis is essential to provide higher life expectancy for patients. This study validates a fluorimetric assay that is used to assess IDS enzyme activity using dried blood spot (DBS) samples and presents the reference interval for the Brazilian population.
Design And Methods: Venous blood sample was collected in heparin tubes for leukocyte extraction and DBS preparation. IDS activity in the leukocytes was analyzed, and the results were considered the gold standard reference for the categorization of volunteers as positive or negative controls (PC and NC, respectively). IDS activity in the DBS was analyzed using an adapted version of the leukocyte assay. Statistical analyses were performed using a ROC curve to determine cutoff values and using a parametric Student's t test to compare values between genders. To verify that the assay yielded consistent results, a Bland-Altman plot was prepared.
Results: Leukocyte IDS activity values ranged between 2.71 and 17.36 nmol/mg protein/h in the NC group and between 0 and 0.11 nmol/mg protein/h in the PC group. Based on the DBS assay, activities ranged between 1.83 and 16.86 μmol/L blood/h in the NC group and between 0.58 and 4.32 μmol/L blood/h in the PC group.
Conclusions: Reference values of IDS activity were determined in DBS with acceptable sensitivity and specificity. Therefore, the DBS assay described in this work may be a useful tool to screen MPS II patients in the Brazilian population.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.clinbiochem.2014.06.010 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Using Active and Passive Smartphone Data to Enhance Adolescents' Emotional Awareness in Forensic Outpatient Setting: A Qualitative Feasibility and Usability Study.
JMIR Form Res
December 2024
Child and Adolescent Psychiatry & Psychosocial Care, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
Background: Delinquent behavior in adolescence is a prevalent issue, often associated with difficulties across multiple life domains, which in turn perpetuates negative life outcomes. While current treatment programs show partial success in improving behavioral changes and reducing recidivism, comprehensive conclusions regarding the overall efficacy of these interventions have yet to be established. In forensic outpatient settings, the discrepancy between adolescents' limited emotional awareness and the predominant emphasis on cognitive reflection, combined with low treatment adherence, may be factors that undermine treatment efficacy.
View Article and Find Full Text PDFIncorporating technology in smoking cessation interventions: In-person vs. Video-call formats.
Int J Med Inform
December 2024
Smoking and Addictive Disorders Unit, Department of Clinical Psychology and Psychobiology, University of Santiago de Compostela, Spain; Institute of Research in Psychology (IPsiUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Introduction: The use of video calls to provide health-related interventions has grown significantly, showing positive results in a broad range of psychological interventions. Scarce research has examined video-call use in smoking cessation treatments. The purpose of this study was to compare two randomised controlled trials conducting a cognitive-behavioral intervention to quit smoking in-person versus using video calls.
View Article and Find Full Text PDFSecure cloud computing: leveraging GNN and leader K-means for intrusion detection optimization.
Sci Rep
December 2024
Department of Computer Science , Applied College, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, 11671, Riyadh, Saudi Arabia.
Over the past two decades, cloud computing has experienced exponential growth, becoming a critical resource for organizations and individuals alike. However, this rapid adoption has introduced significant security challenges, particularly in intrusion detection, where traditional systems often struggle with low detection accuracy and high processing times. To address these limitations, this research proposes an optimized Intrusion Detection System (IDS) that leverages Graph Neural Networks and the Leader K-means clustering algorithm.
View Article and Find Full Text PDFA hybrid AI based framework for enhancing security in satellite based IoT networks using high performance computing architecture.
Sci Rep
December 2024
Computer Engineering Department, UET Taxila, Rawalpindi, Punjab, 47050, Pakistan.
IoT device security has become a major concern as a result of the rapid expansion of the Internet of Things (IoT) and the growing adoption of cloud computing for central monitoring and management. In order to provide centrally managed services each IoT device have to connect to their respective High-Performance Computing (HPC) clouds. The ever increasing deployment of Internet of Things (IoT) devices linked to HPC clouds use various medium such as wired and wireless.
View Article and Find Full Text PDFEffects of core stability exercises on balance ability of children and adolescents with intellectual disabilities: A systematic review and meta-analysis.
PLoS One
December 2024
College of Physical Education and Health Sciences, Zhejiang Normal University, Jinhua, Zhejiang Province, China.
Background: Children and adolescents with intellectual disabilities (IDs) are at risk of falls due to balance problems. One way to palliate balance deficits among this population is via core stability exercises. However, comprehensive studies that examine the effectiveness of core stability exercises in improving balance in this target population are lacking.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!