FRIDAY Dec. 28, 2012 -- To help explain why the debilitating arthritic condition known as gout strikes some people and not others, a new genetic analysis has identified 18 new mutations that appear to boost blood levels of uric acid, the key trigger for a gout attack.
The current effort involved an analysis of data concerning more than 140,000 people, gleaned from 70 independent studies conducted in Europe, the United States, Japan and Australia.
"Abnormal levels of uric acid have been associated with various common diseases and conditions, but causal relationships are not always clear," said study author Dr. Veronique Vitart of the Medical Research Council Human Genetics Unit at the University of Edinburgh, in Scotland, in a school news release. "Gaining insight into the genetic components of uric acid levels offers a very useful tool to tackle these issues and to further our understanding of these conditions."
The study appeared in the Dec. 23 issue of Nature Genetics.
The authors noted that gout has been called the "disease of kings," based on the belief that rich foods (consumed by rich people) are the principle culprit behind the onset of often immobilizing attacks.
Gout affects roughly 2 percent of the population. High levels of uric acid from a wide variety of foods and alcohol accumulate and form into hard crystals, which then lodge themselves into joints and tissues. The result: extreme pain and swelling.
Researchers hope that any fresh insight into the role of genetics in gout incidence might pave the way for better treatment and prevention.
"Existing therapies to avoid attacks of gout sometimes cause side effects," study co-author Mark Caulfield, at the William Harvey Research Institute at Queen Mary University of London, said in the news release. "[So] our findings identify new potential mechanisms for gout and offer opportunities for new therapies which may improve prevention of this debilitating condition in the future."
For more on gout, visit the U.S. National Institutes of Health.
Posted: December 2012
MONDAY Nov. 26, 2012 -- Genes specific to the X chromosome are among newly identified genes linked to rheumatoid arthritis and could help explain why women are more likely than men to develop the disease, researchers say.
Women have two X chromosomes while men have an X and a Y chromosome.
The X-chromosome-specific genes were among 14 newly identified genes in both women and men that can lead to rheumatoid arthritis, adding to the 32 genes previously pinpointed by the researchers at the Arthritis Research U.K. Epidemiology Unit at the University of Manchester and their colleagues.
It is believed that these 46 genes account for the vast majority of genes associated with rheumatoid arthritis. The research could lead to new treatments for the disease, according to the study published online recently in the journal Nature Genetics.
"This groundbreaking study brought together scientists from around the world and involved the use of DNA samples from more than 27,000 patients with rheumatoid arthritis and healthy controls," study lead author Jane Worthington, professor of chronic disease genetics at the University of Manchester, said in a university news release. "As a result of our findings, we now know that genetic variations at over 45 regions of the genome determine susceptibility to this form of arthritis."
Rheumatoid arthritis is different from osteoarthritis, the arthritis associated with aging and wear and tear. It frequently starts between the ages of 25 and 55, and causes inflammation in the joints, resulting in swelling, stiffness, pain and reduced joint function.
Lifestyle and environmental factors such as smoking, diet, pregnancy and infection are believed to play a role in rheumatoid arthritis, but a person's genes also influence their risk for the disease. The condition affects about 1 percent of the world's population.
"This work will have a great impact on the clinical treatment of arthritis; we have already found three genes that are targets for drugs, leaving a further 43 genes with the potential for drug development, helping the one-third of patients who fail to respond well to current medications," study first author Dr. Stephen Eyre said in the news release.
"This is the first time that a genetic association has been established between rheumatoid arthritis and the X chromosome," Alan Silman, medical director of Arthritis Research U.K., said in the release. "This could provide a useful clue in helping us to understand why rheumatoid arthritis is three times more likely to occur in women."
FRIDAY Dec. 28, 2012 -- Researchers report that they've sequenced the genome of a fungus called Pneumocystis jirovecii, potentially laying the groundwork for new ways to treat a strain of pneumonia that can kill people with weakened immune systems.
The strain is known as Pneumocystis pneumonia. First noticed among malnourished babies, it gained attention during the AIDS epidemic because it struck HIV-infected patients. It also strikes other patients whose immune systems don't work properly, such as those who receive organ transplants, are undergoing treatment for blood cancer or have autoimmune disorders.
The sequencing of the genome revealed that the fungus is a parasite that must live within the human body to survive. "This has been quite an important finding which implied that human beings represent the reservoir of this pathogen," study co-author Philippe Hauser of the Centre Hospitalier Universitaire Vaudois and University of Lausanne in Switzerland, said in a news release from the American Society for Microbiology.
The study appears in the Dec. 26 issue of the online journal mBio.
For more about pneumonia, visit the U.S. National Library of Medicine.
Posted: December 2012
From NHS UK website
Appropriate first aid must be used to treat any burns or scalds as soon as possible. This will limit the amount of damage to your skin.
You may need to apply the following first aid techniques to yourself or to another person who has been burnt.
Follow the first aid advice below to treat burns and scalds:
Once you have taken these steps, you will need to decide whether further medical treatment is necessary. Go to a hospital accident and emergency (A&E) department for:
Also get medical help straight away if the person with the burn:
If someone has breathed in smoke or fumes, they should also seek medical attention. Some symptoms may be delayed and can include coughing, a sore throat, difficulty breathing, singed nasal hair or facial burns.
Read more about recovering from burns and scalds for information on how serious burns are treated.
Electrical burns may not look serious, but they can be very damaging. Someone who has an electrical burn should seek immediate medical attention at an A&E department.
If the person has been injured by a low-voltage source (up to 220–240 volts) such as a domestic electricity supply, safely switch off the power supply or remove the person from the electrical source using a non-conductive material. This is a material that does not conduct electricity, such as a wooden stick or a wooden chair.
Do not approach a person who is connected to a high-voltage source (1,000 volts or more).
Chemical burns can be very damaging and require immediate medical attention at an A&E department.
If possible, find out what chemical caused the burn and tell the healthcare professionals at A&E.
If you are helping someone else, wear appropriate protective clothing, then:
In cases of sunburn, follow the advice below:
If a person with heat exhaustion is taken quickly to a cool place, given water to drink and has their clothing loosened, they should start to feel better within half an hour. If they don’t, they could develop heatstroke. This is a medical emergency and you’ll need to call 999 for an ambulance.
Read more about what to do if someone has heat exhaustion or heatstroke.
Read more information about the complications of burns and scalds.