The Orphanet Journal of Rare Diseases publishes articles on topics in rare disease research and diagnosis. This journal is organized into three different sections: Editorials, Case Reports and Multimedia Articles. In addition, it includes a number of special issues on topics like genomics, immunology, AIDS and infectious diseases, cancer and cancer prevention, and regenerative medicine. It also contains a comprehensive index of articles.
Case reports
Case reports have played a key role in diagnosis and treatment of rare diseases. However, prominent journals have been reducing the number of case reports they publish.
In 1946-1974, three out of four major medical journals published a significant number of case reports. By the 1980s, however, these numbers dropped to about one-third. This was attributed to a change in policy.
The IF of a journal is calculated as the rate of citations to articles in the journal. This is a measure of the quality of the publication. It is also a factor that may influence the choice of authors for an article.
Using the Orphanet database, an author was able to determine the distribution of point prevalence of individual rare diseases. The distribution ranged from 6 to 80 cases per 100 000 population. Of these, 81.2% of the diseases had a point prevalence of at least a hundred. Most of these diseases are genetic in nature.
Although there are cases of non-genetic rare diseases, 80% of RDs are genetic in nature. Some examples include bone cancer, sickle cell anemia, and neurofibromatosis. These are diseases that affect red blood cells and white blood cells.
One of the main limitations of the Orphanet database is the lack of structured epidemiological data. Data on prevalence ranges are not known for each class of RDs. Therefore, the distribution of point prevalence data is not accurate.
In addition, many diseases have variants that are rare. For example, some animal transmissible diseases, such as Lyme Disease, Anthrax, Cryptococcosis, and Rabies, are not reported on the Orphanet database.
While case reports are critical to the diagnosis and treatment of rare diseases, they are still in debate. Some argue that case reports have little value because the number of cases is very small. Others, however, feel that they have a positive effect on the recognition of new diseases.
Editorials
Orphanet Journal of Rare Diseases is a scientific journal devoted to research and treatment of rare diseases. The journal covers genetic disorders, clinical work-up, orphan drugs, and clinical trials of exceptional interest. Founded in 2006, the journal is an open-access, peer-reviewed journal published by BioMed Central Ltd., a division of Springer Nature.
Rare diseases are chronic, life-threatening, and often life-limiting conditions that cause early death. Most of them are inherited. They are characterized by an inheritance pattern derived from rare chromosomal rearrangements or mutations. This pattern is often unfavorable to the patient.
Orphanet is a European portal that registers and annotates a variety of rare diseases. Their database contains descriptions of 6172 clinically unique RDs. Among them are 908 RDs with onsets that span both the pediatric and adult groups.
In addition to the database, the Orphanet website offers a range of additional information. For instance, the Orphanet Report Series on Epidemiological data provides global and European point prevalence data for a selection of RDs.
However, there are limitations to this data. Because of the overlapping nature of disease reports, it is possible to overestimate the prevalence of a particular RD. Nevertheless, the report provides a new, evidence-based approach to estimating the prevalence of RDs.
The Orphanet Journal of Rare Diseases is also a highly recommended journal for indexing. It has an overall rank of 3511 in the SCImago Journal Rank database.
Its h-index is 118. This is determined by the number of citations received by the articles published in the journal in the past year. Typically, an article’s h-index will vary from a few to several hundred.
The Journal of Rare Diseases Research & Treatment is a peer-reviewed, multimedia journal. It is committed to using modern communication methods and has a discussion forum.
Multimedia articles
Multimedia articles may not be a new fad, but it is a fairly recent development in the field of scientific publishing. Although the Journal of Rare Diseases Research & Treatment is not exactly a newcomer to the genre, it is still a relatively small player in the online space. The journal allows authors to publish in both text and multimedia formats, with a few caveats. For example, you will need to be sure to provide all necessary multimedia files in your submission package. Also, there is a 1050 dollar article-processing charge, which is not always waived for authors from lower-income countries.
Despite the name, the Journal of Rare Diseases Research & treatment is not all about bling bling. Rather, it is a high-quality peer-reviewed forum for presenting the latest research on rare diseases. As such, it is no doubt the official journal of Orphanet, the world’s largest community dedicated to rare diseases. You can browse through the various articles by subject, or by number of citations. Aside from the aforementioned gimmicks, the journal also has an open discussion forum. This is a good way to learn about new studies, treatments and techniques that you might not have otherwise heard of.
Lastly, the e-journal boasts an impressive list of accolades, including being named as a “highly-recommended” publisher by the Association for Healthcare Communication and Marketing. It is also home to a high-profile editorial board that includes leading medical experts. To that end, the Journal of Rare Diseases & Treatment also has a robust open-access policy, allowing researchers and patients to publish their findings with the utmost of confidence.
Although the Journal of Rare Diseases & Treatment is no stranger to controversy, they have a vested interest in protecting their authors from ill-advised reprints and snafus.
H-index
Orphanet Journal of Rare Diseases is an open access journal, published by BioMed Central. It focuses on clinical work-ups and review articles on rare diseases. The journal is categorized into different areas such as Pediatrics, Genetics, Internal Medicine, and more. The journal aims to improve health care for people with rare diseases.
The h-index for Orphanet Journal of Rare Diseases is 118. This index is calculated using Scopus data. In total, 160 institutions have contributed to this journal.
Orphanet Journal of Rare Diseases has a coverage history of 2006-2021. During this period, the IS of the journal has been increasing. By 2022, the IS is expected to increase to 3.78.
Orphanet Journal of Rare Diseases is classified among the top 9% of journals in the Health Sciences science branch. Moreover, the journal has a SCImago Journal Rank of 1.105. These results indicate that the journal has a high influence. However, these results are not the same as the impact factor produced by the Journal Citation Report.
The h-index is the measure of a publication’s citation impact. It can be derived from the number of citations that the paper receives. For example, if an article has received a h-index of 10, it means that the publication is highly cited.
This journal provides a place for researchers and patients to share their expertise on rare diseases. The journal also offers readers the opportunity to learn about state of the art developments in the field. Orphanet Journal of Rare Diseases is supported by Orphanet, an umbrella organization for rare diseases.
Currently, it has published 6856 papers. This journal also has a free twice-monthly newsletter called OrphaNews.
ISSN
Orphanet Journal of Rare Diseases is an interdisciplinary, peer-reviewed journal devoted to the advancement of knowledge in the area of rare diseases. It is published by BioMed Central Ltd., which is part of the Springer Nature group. The journal is open-access and welcomes submissions from both the research and clinical community.
Orphanet has an online database of publications, which can be accessed by subject, publication year or keyword. In addition, the Orphanet has a free twice-monthly newsletter, OrphaNews, which covers the latest in rare disease news.
There are a variety of topics that are covered in the journal, including genetics, pediatrics, and Internal Medicine. The journal also considers the results of clinical trials for conditions of special interest.
The Journal of Rare Disorders: Diagnosis & Therapy, which is open-access, provides an overview of the most recent developments in the field of rare diseases. The journal aims to promote research and improve the health care of individuals with orphan diseases.
Orphanet also provides a computable dataset called Orphadata that can be used for computational analyses. Some of the more intriguing features include an integrated data set for computational analysis and a comprehensive set of data sets for various rare diseases.
Overall, the Orphanet Journal of Rare Diseases is a worthwhile journal that deserves a spot in your research library. It is an example of how a European portal for rare diseases can be an invaluable resource for both researchers and patients alike.
The Orphanet Journal of Rare Diseases focuses on the most interesting and exciting articles in the field of rare diseases. While the main focus is on clinical work-up and clinical trials, there are a few other areas that are also worthy of mention.
