搜索结果：Orphanet journal of rare diseases

We compare the network of aggregated journal-journal citation relations provided by the Journal Citation Reports (JCR) 2012 of the Science and Social Science Citation Indexes (SCI and SSCI) with similar data based on Scopus 2012. First, global maps were developed for the two sets separately; sets of documents can then be compared using overlays to both maps. Using fuzzy-string matching and ISSN numbers, we were able to match 10,524 journal names between the two sets; that is, 96.4% of the 10,936 journals contained in JCR or 51.2% of the 20,554 journals covered by Scopus. Network analysis was then pursued on the set of journals shared between the two databases and the two sets of unique journals. Citations among the shared journals are more comprehensively covered in JCR than Scopus, so the network in JCR is denser and more connected than in Scopus. The ranking of shared journals in terms of indegree (that is, numbers of citing journals) or total citations is similar in both databases overall (Spearman's \r{ho} > 0.97), but some individual journals rank very differently. Journals that are unique to Scopus seem to be less important--they are citing shared journals rather than bein

Rankings of scholarly journals based on citation data are often met with skepticism by the scientific community. Part of the skepticism is due to disparity between the common perception of journals' prestige and their ranking based on citation counts. A more serious concern is the inappropriate use of journal rankings to evaluate the scientific influence of authors. This paper focuses on analysis of the table of cross-citations among a selection of Statistics journals. Data are collected from the Web of Science database published by Thomson Reuters. Our results suggest that modelling the exchange of citations between journals is useful to highlight the most prestigious journals, but also that journal citation data are characterized by considerable heterogeneity, which needs to be properly summarized. Inferential conclusions require care in order to avoid potential over-interpretation of insignificant differences between journal ratings. Comparison with published ratings of institutions from the UK's Research Assessment Exercise shows strong correlation at aggregate level between assessed research quality and journal citation `export scores' within the discipline of Statistics.

This study examines the social media uptake of scientific journals on two different platforms - X and WeChat - by comparing the adoption of X among journals indexed in the Science Citation Index-Expanded (SCIE) with the adoption of WeChat among journals indexed in the Chinese Science Citation Database (CSCD). The findings reveal substantial differences in platform adoption and user engagement, shaped by local contexts. While only 22.7% of SCIE journals maintain an X account, 84.4% of CSCD journals have a WeChat official account. Journals in Life Sciences & Biomedicine lead in uptake on both platforms, whereas those in Technology and Physical Sciences show high WeChat uptake but comparatively lower presence on X. User engagement on both platforms is dominated by low-effort interactions rather than more conversational behaviors. Correlation analyses indicate weak-to-moderate relationships between bibliometric indicators and social media metrics, confirming that online engagement reflects a distinct dimension of journal impact, whether on an international or a local platform. These findings underscore the need for broader social media metric frameworks that incorporate locally dom

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare diseases, highlighting significant strides and pivotal studies that leverage textual data to uncover insights and patterns critical for diagnosis, treatment, and patient care. While current research predominantly employs textual data, the potential for multimodal data integration combining genetic, imaging, and electronic health records stands as a promising frontier. We review foundational papers that demonstrate the application of LLMs in identifying and extracting relevant medical information, simulating intelligent conversational agents for patient interaction, and enabling the formulation of accurate and timely diagnoses. Furthermore, this paper discusses the challenges and ethical considerations inherent in deploying LLMs, including data privacy, model transparency, and the need for robust, inclusive data sets. As part of this exploration, we present a section on experimentation that utilizes multiple LLMs alongside structured questionnaires, spec

Despite rare diseases affecting 1 in 10 Americans, their differential diagnosis remains challenging. Due to their impressive recall abilities, large language models (LLMs) have been recently explored for differential diagnosis. Existing approaches to evaluating LLM-based rare disease diagnosis suffer from two critical limitations: they rely on idealized clinical case studies that fail to capture real-world clinical complexity, or they use ICD codes as disease labels, which significantly undercounts rare diseases since many lack direct mappings to comprehensive rare disease databases like Orphanet. To address these limitations, we explore MIMIC-RD, a rare disease differential diagnosis benchmark constructed by directly mapping clinical text entities to Orphanet. Our methodology involved an initial LLM-based mining process followed by validation from four medical annotators to confirm identified entities were genuine rare diseases. We evaluated various models on our dataset of 145 patients and found that current state-of-the-art LLMs perform poorly on rare disease differential diagnosis, highlighting the substantial gap between existing capabilities and clinical needs. From our findi

Despite the impressive capabilities of Large Language Models (LLMs) in general medical domains, questions remain about their performance in diagnosing rare diseases. To answer this question, we aim to assess the diagnostic performance of LLMs in rare diseases, and explore methods to enhance their effectiveness in this area. In this work, we introduce a rare disease question-answering (ReDis-QA) dataset to evaluate the performance of LLMs in diagnosing rare diseases. Specifically, we collected 1360 high-quality question-answer pairs within the ReDis-QA dataset, covering 205 rare diseases. Additionally, we annotated meta-data for each question, facilitating the extraction of subsets specific to any given disease and its property. Based on the ReDis-QA dataset, we benchmarked several open-source LLMs, revealing that diagnosing rare diseases remains a significant challenge for these models. To facilitate retrieval augmentation generation for rare disease diagnosis, we collect the first rare diseases corpus (ReCOP), sourced from the National Organization for Rare Disorders (NORD) database. Specifically, we split the report of each rare disease into multiple chunks, each representing a d

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize, and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Further, all data generated, currently representing ~7500 individuals from ~3000 families, is rapidly made available to researchers worldwide via the Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) to catalyze global efforts to develop approaches for genetic diagnoses in rare diseases (https://gregorconsortium.org/data). The majority of these families have undergone prior clinical genetic testing

Missed and delayed diagnosis remains a major challenge in rare disease care. At the initial clinical encounters, physicians assess rare disease risk using only limited information under high uncertainty. When high-risk patients are not recognised at this stage, targeted diagnostic testing is often not initiated, resulting in missed diagnosis. Existing primary care triage processes are structurally insufficient to reliably identify patients with rare diseases at initial clinical presentation and universal screening is needed to reduce diagnostic delay. Here we present RareAlert, an early screening system which predict patient-level rare disease risk from routinely available primary-visit information. RareAlert integrates reasoning generated by ten LLMs, calibrates and weights these signals using machine learning, and distils the aligned reasoning into a single locally deployable model. To develop and evaluate RareAlert, we curated RareBench, a real-world dataset of 158,666 cases covering 33 Orphanet disease categories and more than 7,000 rare conditions, including both rare and non-rare presentations. The results showed that rare disease identification can be reconceptualised as a u

Of the 2652 articles considered, 106 met the inclusion criteria. Review of the included papers resulted in identification of 43 chronic diseases, which were then further classified into 10 disease categories using ICD-10. The majority of studies focused on diseases of the circulatory system (n=38) while endocrine and metabolic diseases were fewest (n=14). This was due to the structure of clinical records related to metabolic diseases, which typically contain much more structured data, compared with medical records for diseases of the circulatory system, which focus more on unstructured data and consequently have seen a stronger focus of NLP. The review has shown that there is a significant increase in the use of machine learning methods compared to rule-based approaches; however, deep learning methods remain emergent (n=3). Consequently, the majority of works focus on classification of disease phenotype with only a handful of papers addressing extraction of comorbidities from the free text or integration of clinical notes with structured data. There is a notable use of relatively simple methods, such as shallow classifiers (or combination with rule-based methods), due to the interp

Many rare genetic diseases exhibit recognizable facial phenotypes, which are often used as diagnostic clues. However, current facial phenotype diagnostic models, which are trained on image datasets, have high accuracy but often suffer from an inability to explain their predictions, which reduces physicians' confidence in the model output.In this paper, we constructed a dataset, called FGDD, which was collected from 509 publications and contains 1147 data records, in which each data record represents a patient group and contains patient information, variation information, and facial phenotype information. To verify the availability of the dataset, we evaluated the performance of commonly used classification algorithms on the dataset and analyzed the explainability from global and local perspectives. FGDD aims to support the training of disease diagnostic models, provide explainable results, and increase physicians' confidence with solid evidence. It also allows us to explore the complex relationship between genes, diseases, and facial phenotypes, to gain a deeper understanding of the pathogenesis and clinical manifestations of rare genetic diseases.

Prion diseases are invariably fatal and highly infectious neurodegenerative diseases affecting humans and animals. By now there have not been some effective therapeutic approaches to treat all these prion diseases. In 2008, canine mammals including dogs (canis familials) were the first time academically reported to be resistant to prion diseases (Vaccine 26: 2601--2614 (2008)). Rabbits are the mammalian species known to be resistant to infection from prion diseases from other species (Journal of Virology 77: 2003--2009 (2003)). Horses were reported to be resistant to prion diseases too (Proceedings of the National Academy of Sciences USA 107: 19808--19813 (2010)). By now all the NMR structures of dog, rabbit and horse prion proteins had been released into protein data bank respectively in 2005, 2007 and 2010 (Proceedings of the National Academy of Sciences USA 102: 640--645 (2005), Journal of Biomolecular NMR 38:181 (2007), Journal of Molecular Biology 400: 121--128 (2010)). Thus, at this moment it is very worth studying the NMR molecular structures of horse, dog and rabbit prion proteins to obtain insights into their immunity prion diseases. This article reports the findings of th

Rare diseases represent the long tail of medical imaging, where AI models often fail due to the scarcity of representative training data. In clinical workflows, radiologists frequently consult case reports and literature when confronted with unfamiliar findings. Following this line of reasoning, we introduce RADAR, Retrieval Augmented Diagnostic Reasoning Agents, an agentic system for rare disease detection in brain MRI. Our approach uses AI agents with access to external medical knowledge by embedding both case reports and literature using sentence transformers and indexing them with FAISS to enable efficient similarity search. The agent retrieves clinically relevant evidence to guide diagnostic decision making on unseen diseases, without the need of additional training. Designed as a model-agnostic reasoning module, RADAR can be seamlessly integrated with diverse large language models, consistently improving their rare pathology recognition and interpretability. On the NOVA dataset comprising 280 distinct rare diseases, RADAR achieves up to a 10.2% performance gain, with the strongest improvements observed for open source models such as DeepSeek. Beyond accuracy, the retrieved ex

Using the Scopus dataset (1996-2007) a grand matrix of aggregated journal-journal citations was constructed. This matrix can be compared in terms of the network structures with the matrix contained in the Journal Citation Reports (JCR) of the Institute of Scientific Information (ISI). Since the Scopus database contains a larger number of journals and covers also the humanities, one would expect richer maps. However, the matrix is in this case sparser than in the case of the ISI data. This is due to (i) the larger number of journals covered by Scopus and (ii) the historical record of citations older than ten years contained in the ISI database. When the data is highly structured, as in the case of large journals, the maps are comparable, although one may have to vary a threshold (because of the differences in densities). In the case of interdisciplinary journals and journals in the social sciences and humanities, the new database does not add a lot to what is possible with the ISI databases.

Mortality prediction of diverse rare diseases using electronic health record (EHR) data is a crucial task for intelligent healthcare. However, data insufficiency and the clinical diversity of rare diseases make it hard for directly training deep learning models on individual disease data or all the data from different diseases. Mortality prediction for these patients with different diseases can be viewed as a multi-task learning problem with insufficient data and large task number. But the tasks with little training data also make it hard to train task-specific modules in multi-task learning models. To address the challenges of data insufficiency and task diversity, we propose an initialization-sharing multi-task learning method (Ada-Sit) which learns the parameter initialization for fast adaptation to dynamically measured similar tasks. We use Ada-Sit to train long short-term memory networks (LSTM) based prediction models on longitudinal EHR data. And experimental results demonstrate that the proposed model is effective for mortality prediction of diverse rare diseases.

Real-world data (RWD) and real-world evidence (RWE) have been increasingly used in medical product development and regulatory decision-making, especially for rare diseases. After outlining the challenges and possible strategies to address the challenges in rare disease drug development (see the accompanying paper), the Real-World Evidence (RWE) Scientific Working Group of the American Statistical Association Biopharmaceutical Section reviews the roles of RWD and RWE in clinical trials for drugs treating rare diseases. This paper summarizes relevant guidance documents and frameworks by selected regulatory agencies and the current practice on the use of RWD and RWE in natural history studies and the design, conduct, and analysis of rare disease clinical trials. A targeted learning roadmap for rare disease trials is described, followed by case studies on the use of RWD and RWE to support a natural history study and marketing applications in various settings.

Large language models (LLMs) have demonstrated impressive capabilities in disease diagnosis. However, their effectiveness in identifying rarer diseases, which are inherently more challenging to diagnose, remains an open question. Rare disease performance is critical with the increasing use of LLMs in healthcare settings. This is especially true if a primary care physician needs to make a rarer prognosis from only a patient conversation so that they can take the appropriate next step. To that end, several clinical decision support systems are designed to support providers in rare disease identification. Yet their utility is limited due to their lack of knowledge of common disorders and difficulty of use. In this paper, we propose RareScale to combine the knowledge LLMs with expert systems. We use jointly use an expert system and LLM to simulate rare disease chats. This data is used to train a rare disease candidate predictor model. Candidates from this smaller model are then used as additional inputs to black-box LLM to make the final differential diagnosis. Thus, RareScale allows for a balance between rare and common diagnoses. We present results on over 575 rare diseases, beginnin

Although rare diseases are characterized by low prevalence, approximately 300 million people are affected by a rare disease. The early and accurate diagnosis of these conditions is a major challenge for general practitioners, who do not have enough knowledge to identify them. In addition to this, rare diseases usually show a wide variety of manifestations, which might make the diagnosis even more difficult. A delayed diagnosis can negatively affect the patient's life. Therefore, there is an urgent need to increase the scientific and medical knowledge about rare diseases. Natural Language Processing (NLP) and Deep Learning can help to extract relevant information about rare diseases to facilitate their diagnosis and treatments. The paper explores the use of several deep learning techniques such as Bidirectional Long Short Term Memory (BiLSTM) networks or deep contextualized word representations based on Bidirectional Encoder Representations from Transformers (BERT) to recognize rare diseases and their clinical manifestations (signs and symptoms) in the RareDis corpus. This corpus contains more than 5,000 rare diseases and almost 6,000 clinical manifestations. BioBERT, a domain-speci

Rare diseases, despite their low individual incidence, collectively impact around 300 million people worldwide due to the vast number of diseases. The involvement of multiple organs and systems, and the shortage of specialized doctors with relevant experience, make diagnosing and treating rare diseases more challenging than common diseases. Recently, agents powered by large language models (LLMs) have demonstrated notable applications across various domains. In the medical field, some agent methods have outperformed direct prompts in question-answering tasks from medical examinations. However, current agent frameworks are not well-adapted to real-world clinical scenarios, especially those involving the complex demands of rare diseases. To bridge this gap, we introduce RareAgents, the first LLM-driven multi-disciplinary team decision-support tool designed specifically for the complex clinical context of rare diseases. RareAgents integrates advanced Multidisciplinary Team (MDT) coordination, memory mechanisms, and medical tools utilization, leveraging Llama-3.1-8B/70B as the base model. Experimental results show that RareAgents outperforms state-of-the-art domain-specific models, GPT

A number of journal classification systems have been developed in bibliometrics since the launch of the Citation Indices by the Institute of Scientific Information (ISI) in the 1960s. These systems are used to normalize citation counts with respect to field-specific citation patterns. The best known system is the so-called "Web-of-Science Subject Categories" (WCs). In other systems papers are classified by algorithmic solutions. Using the Journal Citation Reports 2014 of the Science Citation Index and the Social Science Citation Index (n of journals = 11,149), we examine options for developing a new system based on journal classifications into subject categories using aggregated journal-journal citation data. Combining routines in VOSviewer and Pajek, a tree-like classification is developed. At each level one can generate a map of science for all the journals subsumed under a category. Nine major fields are distinguished at the top level. Further decomposition of the social sciences is pursued for the sake of example with a focus on journals in information science (LIS) and science studies (STS). The new classification system improves on alternative options by avoiding the problem