ArticleOrphanet journal of rare diseases2025
A visual analysis of research hotspots and trends on macrodactyly between 2005 and 2024.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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Authors and funding
6 authors.
Funding
Abstract
purposeTo conduct a visualization analysis of macrodactyly research from 2005 to 2024, providing a comprehensive overview of research trends, key contributors, and emerging topics.
methodsA visual analysis of macrodactyly related publications from 2005 to 2024 was conducted using the Web of Science Core Collection database. Publication trends, country and institutional contributions, author collaboration networks, and keyword co-occurrences were analyzed. Statistical analysis and visualization were performed using Microsoft Excel, R, VOSviewer, and CiteSpace.
resultsOne hundred and fifty-three publications were included. Annual publication trends showed fluctuations but an overall growth in interest over time, with notable growth from 2011 to 2014 peaking at 15 publications in 2014. The United States led with 128 publications, followed by China (60), Italy (40), Japan (36), and Turkey (27), with prominent institutions such as Mayo Clinic and Harvard University playing pivotal roles. Key authors like Dr. Marybeth Ezaki, working with the team at Texas Scottish Rite Hospital for Children, made substantial contributions to establishing diagnostic frameworks. Most importantly, keyword analysis revealed a fundamental shift in research focus from clinical and surgical themes (represented by keywords such as "foot," "hand," and "osteotomy" in early periods) to molecular and genetic investigations (characterized by "PIK3CA," "activating mutations," and "overgrowth" in recent years). The strongest citation burst was "overgrowth" (2016-2020), followed by genetic-related terms, with "activating mutations" representing the most recent trend (2020-2024), indicating increasing emphasis on PIK3CA mutations as the current research hotspot.
conclusionThis study highlights the evolution of macrodactyly research and reveals fluctuating publication trends and substantial contributions from key countries, authors, and institutions. The transition from clinical and surgical approaches to molecular and genetic investigations underscores advancements in the field. Future research should prioritize integrating genetic findings with clinical applications and advancing diagnostics and treatment strategies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.