AI Article Synopsis
- The study aimed to create standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC) to support international clinical research and multisite studies.
- A mixed-methods approach was used, involving focus groups and Delphi surveys, with participation from 45 experts and individuals with AMC experience from 11 countries.
- The resulting CDEs include 321 data elements and 19 measures, which will enhance data collection on AMC and promote collaborations, knowledge sharing, and better understanding of the condition through systematic research.
Article Abstract
Aim: To facilitate multisite studies and international clinical research, this study aimed to identify consensus-based, standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC).
Method: A mixed-methods study comprising of several focus group discussions and three rounds of modified Delphi surveys to achieve consensus using two tiered-rating scales were conducted.
Results: Overall, 45 clinical experts and adults with lived experience (including 12 members of an AMC consortium) participated in this study from 11 countries in North America, Europe, and Australia. The CDEs include 321 data elements and 19 standardized measures across various domains from fetal development to adulthood. Data elements pertaining to AMC phenotypic traits were mapped according to the Human Phenotype Ontology. A universal governance structure, local operating protocols, and sustainability plans were identified as the main facilitators, whereas limited capacity for data sharing and the need for a federated informatics infrastructure were the main barriers.
Interpretation: Collection of systematic data on AMC using CDEs will allow investigations on etiological pathways, describe epidemiological profile, and establish genotype-phenotype correlations in a standardized manner. The proposed CDEs will facilitate international multidisciplinary collaborations by improving large-scale studies and opportunities for data sharing, knowledge translation, and dissemination.
What This Paper Adds: The common data elements (CDEs) for arthrogryposis multiplex congenita include 321 data elements from perinatal period to adulthood. A universal governance structure, partner-specific operating protocols, and sustainability plans will facilitate multi-institutional implementation of CDEs. Inconsistent electronic infrastructure, different terminologies for databases, and feasibility issues are the main barriers for international implementation of CDEs.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/dmcn.15898 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Modular organization of enhancer network provides transcriptional robustness in mammalian development.
Nucleic Acids Res
January 2025
State Key Laboratory of Cellular Stress Biology, Xiang'an Hospital, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, No. 4221, Xiang'an South Road, Xiamen, Fujian 361102, China.
Enhancer clusters, pivotal in mammalian development and diseases, can organize as enhancer networks to control cell identity and disease genes; however, the underlying mechanism remains largely unexplored. Here, we introduce eNet 2.0, a comprehensive tool for enhancer networks analysis during development and diseases based on single-cell chromatin accessibility data.
View Article and Find Full Text PDFMechanistic determinants and dynamics of cA6 synthesis in type III CRISPR-Cas effector complexes.
Nucleic Acids Res
January 2025
Department of Biochemistry, University of Zurich, Winterthurerstrass 190, 8057 Zurich, Switzerland.
Type III clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated (Cas) systems (type III CRISPR-Cas systems) use guide RNAs to recognize RNA transcripts of foreign genetic elements, which triggers the generation of cyclic oligoadenylate (cOA) second messengers by the Cas10 subunit of the type III effector complex. In turn, cOAs bind and activate ancillary effector proteins to reinforce the host immune response. Type III systems utilize distinct cOAs, including cyclic tri- (cA3), tetra- (cA4) and hexa-adenylates (cA6).
View Article and Find Full Text PDFCardiovascular Disease Risk in South Asians in the Baylor Scott and White Health DILWALE Registry.
JACC Adv
December 2024
Johns Hopkins Department of Internal Medicine, Baltimore, Maryland, USA.
Background: Despite implementation of preventive interventions targeting cardiovascular disease (CVD), atherosclerotic CVD (ASCVD) remains a major public health concern in the South Asian (SA) population.
Objectives: The purpose of this study was to assess the risk factor prevalence and ASCVD outcomes in SA population in the United States.
Methods: The DIL Wellness and Arterial health Longitudinal Evaluation registry collected data retrospectively on SA adult patients receiving care in the Baylor Scott & White Healthcare system.
Impact of information publicity on Korean residents' E-waste recycling intentions: Applying the norm activation model and theory of planned behavior.
Heliyon
July 2024
Department of Management Information Systems, Faculty of Data Science for Sustainable Growth, Jeju National University, Republic of Korea.
The escalating annual growth rate of electronic waste, commonly referred to as "e-waste," is currently between 3 % and 5 %, indicating a rapidly increasing solid waste stream. In 2019, South Korea generated 15.8 kg of e-waste per capita.
View Article and Find Full Text PDFToxicity assessment and bioimaging potential of carbon dots synthesized from banana peel in zebrafish model.
Narra J
December 2024
Research Group of Pharmaceutics, School of Pharmacy, Institut Teknologi Bandung, Bandung, Indonesia.
Zebrafish serve as a pivotal model for bioimaging and toxicity assessments; however, the toxicity of banana peel-derived carbon dots in zebrafish has not been previously reported. The aim of this study was to assess the toxicity of carbon dots derived from banana peel in zebrafish, focusing on two types prepared through hydrothermal and pyrolysis methods. Banana peels were synthesized using hydrothermal and pyrolysis techniques and then compared for characteristics, bioimaging ability, and toxicity in zebrafish as an animal model.
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!