Archive for the ‘Rare Diseases’ Category
Check out the February issue of NIH News in Health, the monthly newsletter bringing you practical health news and tips based on the latest NIH research. In this issue:
- Technologies Enhance Tumor Surgery: Helping Surgeons Spot and Remove Cancer
For surgeons, removing a tumor is a balancing act. Cut out too much and you risk removing healthy tissues that have important functions. Remove too little and you may leave behind cancer cells that could grow back into a tumor over time. NIH-funded researchers are developing new technologies to help surgeons determine exactly where tumors end and healthy tissue begins. Their ultimate goal is to make surgery for cancer patients safer and more effective.
- Focusing on Fibromyalgia: A Puzzling and Painful Condition
You’ve probably heard of fibromyalgia, but you may not know what it is. Fibromyalgia is a long-term (chronic) pain condition that affects 5 million or more Americans ages 18 and older. For unknown reasons, most people diagnosed with fibromyalgia are women, although men and children also can be affected. People with certain disorders, such as rheumatoid arthritis or lupus, may also have fibromyalgia, which can affect their disease course and treatment.
- Infertility Treatments and Children’s Development
A growing number of would-be parents are turning to infertility treatments to help them have a baby. A new study found no evidence that these treatments cause any developmental delays. The findings may offer some relief to parents concerned about the long-term health risks of infertility therapies.
- Help for Rare and Undiagnosed Conditions
Trying to get a diagnosis for a perplexing medical condition can be a long and frustrating process. For rare diseases, a diagnosis may take years. NIH’s Genetic and Rare Diseases (GARD) Information Center features information about thousands of rare diseases as well as resources to help with diagnoses and finding appropriate care.
- Featured Website: NIH Office of Dietary Supplements
Dietary supplements include vitamins, minerals, botanicals, and more. In the U.S., they’re used by half of all adults and a third of all children. This site offers reliable, evidence-based information about dietary supplements for health professionals and consumers in both English and Spanish.
NIH News in Health is available online in both HTML and PDF formats. Additionally, you can get trusted, up-to-date health information from NIH News in Health added directly to your site via NIH content syndication. Print copies are available free of charge for offices, clinics, community centers, and libraries within the U.S. Visit the NIH News in Health Facebook page to suggest topics you’d like to see covered, or share what you find helpful about the newsletter!
On January 27, 2016, two new MeSH headings were added to the 2016 MeSH Browser in response to increased reports in the literature about the Zika virus outbreak and its tentative association with microcephaly in newborns as well as possible paralysis and Guillain-Barre Syndrome in adults:
The terms also appeared in the MeSH export file available to licensees on January 27, 2016. Indexing for the new headings began January 28, 2016. In addition, NLM Indexing staff will review citations previously indexed on this topic to determine if the new headings should be applied to the citations. Here is a suggested interim PubMed search strategy to retrieve citations on Zika until the review of previously indexed citations is completed:
Using the [tiab] search tag finds citations that have already been indexed with MeSH or are still in process. The tag restricts retrieval to the article title, abstract, or author keyword fields and prevents false drops from other fields such as author name.
A Zika Virus Health Information Resources page, from the Disaster Information Management Research Center at NLM, gathers resources on the emerging health issues arising from the Zika Virus. For additional information see the article, NLM Disaster Information Management Research Center Resource List Updates.
For decades, the mosquito-transmitted Zika virus was mainly seen in equatorial regions of Africa and Asia, where it caused a mild, flu-like illness and rash in some people. About ten years ago, Zika outbreaks spread to the Pacific islands. Then, last spring, Zika appeared in South America, where it has so far infected more than 1 million Brazilians. A recent study published in The Lancet suggests that Zika virus could eventually reach regions of the United States in which 60% of the population resides. Humid, subtropical parts of the country might support the spread of Zika virus all year round, including southern Texas and Florida. With no vaccine or treatment currently available to prevent or treat Zika infection, the best way for individuals, and pregnant women in particular, to protect themselves is to avoid traveling to places where Zika is known to be present. If an individual has to live or work in such a region, the CDC recommends strict precautions to avoid mosquito bites, including wearing protective clothing, using insect repellants, and sleeping in rooms with window screens or air conditioning.
Following are selections from a list of resources gathered by the National Library of Medicine to assist public health departments, health care providers, librarians, and others seeking authoritative information on the virus and disease. In addition, Zika Virus and Zika Virus Infection are new terms included in NLM’s Medical Subject Headings (MeSH) vocabulary.
Centers for Disease Control and Prevention (CDC), U.S. Department of Health and Human Services
World Health Organization (WHO)
Pan American Health Organization (PAHO), World Health Organization
The Winter 2016 issue of NIH MedlinePlus the Magazine features topics including Crohn’s disease, tips for a healthy new year, flu vaccinations, dyslexia, probiotics, and Parkinson’s disease. The cover features Benjamin King, star of Disney Channel’s hit TV series Liv and Maddie, who helps others—especially kids—learn to live well with Crohn’s disease.
The issue also features an article about the “crowdsourcing” of disease information among patients and doctors. Websites like RareShare are becoming becoming a valuable lifeline for patients with serious rare diseases around the globe. Through these online community groups, patients, their loved ones, and health care professionals share contacts, treatment information, and the latest research.
NIH MedlinePlus the Magazine is the free, trusted consumer guide to the vast array of authoritative online health and medical information in MedlinePlus. Published four times a year, the magazine showcases the National Institutes of Health’s (NIH) latest medical research and healthcare information. NIH MedlinePlus the Magazine is freely available as a print subscription, e-mail alerts, and online.
An increasing number of U.S. hospitals are now equipped to treat patients with Ebola, giving nationwide health system Ebola readiness efforts a boost. According to the Centers for Disease Control and Prevention (CDC), state health officials have identified and designated 35 hospitals with Ebola treatment centers, with more expected in the coming weeks. Four of the facilities are located in California. Hospitals with Ebola treatment centers have been designated by state health officials to serve as treatment facilities for Ebola patients based on a collaborative decision with local health authorities and the hospital administration.
Ebola treatment centers are staffed, equipped and have been assessed to have current capabilities, training and resources to provide the complex treatment necessary to care for a person with Ebola while minimizing risk to health care workers. The additional facilities supplement the three national bio containment facilities at Emory University Hospital, Nebraska Medical Center, and the National Institutes of Health (NIH), which will continue to play a major role in the overall national treatment strategy, particularly for patients who are medically evacuated from overseas. Facilities will continue to be added in the next several weeks to further broaden geographic reach.
CDC also released guidance for states and hospitals to use as they identify and designate an Ebola treatment center. The guidance covers the range of capabilities hospitals need in order to provide comprehensive care for patients with Ebola. HHS, through the CDC and the Office of the Assistant Secretary of Preparedness and Response (ASPR), also provided technical assistance to health departments and hospitals.
The National Library of Medicine (NLM) has launched a Web collecting initiative to capture and preserve selected born-digital content documenting the 2014 Ebola outbreak. This initiative is a part of its previously-announced Web content collecting effort, which is guided by the NLM Collection Development Manual and other strategic collecting efforts. Initiated on October 1, 2014, selected content related to the current Ebola outbreak includes Web sites and social media from Government and non-government organizations, journalists, healthcare workers, and scientists in the United States and around the world, with an aim to collect and preserve a diversity of perspectives on this unfolding health crisis.
The content is part of the NLM’s broader Web collection on “Global Health Events.” The NLM will continue to develop, review, describe, and add content to the collection, as it also expands its overall capacity to collect Web content. With this initiative NLM has taken a major new step in its mission to collect pertinent health care information of today for the benefit of research in the future. Increasingly, that information is found on the Web, which is a rapidly changing environment where valuable and interesting materials can surface and then quickly disappear!
A new web page, Ebola Outbreak 2014: Information Resources, is now available from the National Library of Medicine (NLM) Disaster Information Management Research Center (DIMRC). The resources on this page may be of value to international and local organizations and individuals providing Ebola outbreak-related services in West Africa, as well as friends and family of people in the affected region.
This resource complements NLM’s activation of the the Emergency Access Initiative in support of medical efforts in West Africa. The Emergency Access Initiative is a collaborative partnership between the National Library of Medicine and participating publishers to provide free access to full-text articles from over 650 biomedical serial titles and over 4,000 reference books and online databases to healthcare professionals and libraries affected by disasters. The free access period is August 12, 2014 – September 11, 2014. The news story, NLM Launches Emergency Access Initiative, Granting Free Access to Books and Journals for Healthcare Professionals Fighting Ebola Outbreak, provides more detail on the NLM response to the Ebola outbreak.
The National Library of Medicine (NLM) Emergency Access Initiative (EAI) has been activated to support healthcare professionals working on the Ebola public health emergency in West Africa. The EAI is a collaborative partnership between NLM and participating publishers to provide free access to full-text from over 650 biomedical journals and over 4,000 reference books and online databases to healthcare professionals and libraries affected by disasters. It serves as a temporary collection replacement and/or supplement for libraries affected by disasters that need to continue to serve medical staff and affiliated users. It is also intended for medical personnel responding to the specified disaster. EAI is not an open access collection. It is only intended for those affected by the disaster or assisting the affected population. If you know of a library or organization involved in healthcare efforts in response to the Ebola outbreak, please let them know of this service. EAI was activated four times in the past, including following the earthquake and subsequent cholera epidemic in Haiti, flooding in Pakistan and the earthquake and tsunami in Japan.
NLM thanks the numerous participating publishers for their generous support of this initiative: American Academy of Pediatrics, American Association for the Advancement of Science, American Chemical Society, American College of Physicians, American Medical Association, American Society of Health-Systems Pharmacists, ASM Press, B.C. Decker, BMJ, EBSCOHost, Elsevier, FA Davis, Mary Ann Liebert, Massachusetts Medical Society, McGraw-Hill, Merck Publishing, Oxford University Press, People’s Medical Publishing House, Springer, University of Chicago Press, Wiley and Wolters Kluwer.
Resources on Ebola
NLM has several other resources that will be helpful for people working on Ebola:
HHS agencies, including CDC and ASPR, also provide the latest Ebola information available through social media, including Twitter@phegov, @CDCgov, @CDCEmergency and Facebook Public Health Emergency, CDC, CDC Emergency Preparedness and Response. The CDC also has a comprehensive set of resources on its Ebola Hemorrhagic Fever web page.
On April 25, 2003, the National Library of Medicine launched Genetics Home Reference (GHR), a free online resource about human genetics created for patients, families, and the general public. The Web site provides a bridge between the public’s questions about human genetics and the rich technical data that has emerged from the Human Genome Project (observing the 10th anniversary of its completion on April 25th) and other genomic research.
GHR provides consumer-friendly summaries of genetic conditions and their associated genes, gene families, and chromosomes. The site also features a primer called “Help Me Understand Genetics,” an illustrated introduction to fundamental topics in human genetics; including mutations, inheritance, genetic testing, gene therapy, and genomic research. Additionally, GHR offers helpful background information, including a glossary of genetic and medical terms and links to numerous other quality resources. A “Spotlight” feature on the GHR home page highlights important observances and discoveries in the field of human genetics, and draws attention to useful learning tools and clinical resources.
When it was launched a decade ago, Genetics Home Reference featured 19 condition summaries and 16 gene descriptions. Today, GHR offers easy-to-read summaries of about 850 genetic conditions, more than 1,060 genes, more than 80 gene families, all of the human chromosomes, and mitochondrial DNA. New summaries are added regularly. GHR currently receives about 43,000 visitors per day and 39 million hits per month, suggesting that it continues to be an important and useful health resource!
On February 28, and March 1, 2013, the National Institutes of Health (NIH) will celebrate the sixth annual Rare Disease Day with a 2-day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; other Federal Government agencies; the National Organization for Rare Disorders; and the Genetic Alliance.
Rare Disease Day was established to raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients’ lives. There are about 7000 rare diseases identified in the United States. About 80 percent of rare diseases are genetic in origin and it is estimated that about half of all rare diseases affect children. Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient. People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden, and lack of support services for the patient and family. The goals remain for rare disease patients to obtain the highest attainable standard of health, and to be provided the resources required to overcome common obstacles in their lives.
Rare Disease Day at NIH (RDD@NIH) will be held in the Natcher Auditorium (Building 45) from 8:30 a.m. to 5:00 p.m. on Thursday, February 28, and from 8:30 a.m. to 4:00 p.m. on Friday, March 1. Attendance is free and open to the public. The event will also be available via live and archived videocast on February 28 and March 1.
For more information about Rare Disease Day, please visit the event’s website. For more information about rare diseases, please visit the NIH Office of Rare Diseases Research and Genetic and Rare Diseases Information Center (GARD) websites.