Scientists ID New Genetic Connection for Gout

The painful inflammatory condition affects about 2 percent of people worldwide
      
     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 varietyTo 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."



SOURCE: University of Edinburgh, news release, Dec. 23, 2012
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Does looking at a computer damage your eyes?

          The old saying goes that watching too much TV will make your eyes go square. Nowadays, we seem to spend most of our time looking at screens: be it a computer screen at work, a mobile phone screen to make a call or a TV screen to relax. But how bad is looking at screens for our eyes? Is there really any truth behind the old saying?


        According to Dr Blakeney, an optometric adviser to the College of Optometrists, computers will not permanently damage the eyes; however, they can cause strain or exacerbate existing eye conditions. (1)
What problems do looking at computer screens cause?

      People who look at computers frequently, (in particular those that look at a computer for more than three hours a day), (2) may experience symptoms such as:
*Eye discomfort
*Headaches
*Itchy eyes
*Dry or watering eyes
*Burning sensations
*Changes in color perception
*Blurred vision
*Difficulty focussing (1, 2, 3)
*Eyestrain

*Eyestrain is a type of repetitive strain injury (RSI) that is caused by insufficient rest periods, incorrect working conditions and so forth. (2, 4)

*There are many causes of eyestrain. One of these is glare.

*There are two types of glare, direct and indirect. Direct glare is where light shines directly in your eyes; whereas indirect glare is caused by light reflecting off surfaces into your eyes. (3)

*Glare often results from computer screens being too dark or too bright. (2, 5)

*Glare leads to eye muscle fatigue, for the eyes have to struggle to make out the images on the screen. (2)

*Another major cause of eyestrain is the position of the computer screen.

Naturally, the eyes are positioned so that they look straight ahead and slightly down.

If the eyes have to look in a different direction, the muscles have to continually work to hold this position.

Thus, if your computer monitor is positioned incorrectly, the eye muscles must constantly work to hold the eyes in the correct position to view the monitor. (2)

In order to prevent the eyes becoming strained in this way, the top of your computer screen should be no higher than eye level. (3)
Dry eye syndrome
         According to the NHS, using your computer correctly can also help to prevent dry eye syndrome.

Dry eye syndrome is a condition in which the eyes become inflamed due to a lack of tears. This lack of tears is commonly due to a blockage of the oil secreting glands in the eyes.

Although this condition causes discomfort, it does not usually affect vision. (6)
Ways to minimise damage to your eyes caused by computer screens

There are several ways you can minimise the potential damage to your eyes caused by looking at computer screens.

Firstly, it is important to set up your computer screen so that it is in the correct position in relation to your eyes.

As previously mentioned, the top of the screen should be in line with your eye level. In addition, the screen should be placed approximately 18-30 inches from you.

The screen should also be tilted slightly back – between 10 to 15 degrees depending on the person’s particular preference. This is so that you do not receive glare from lights in the ceiling. (3, 7)

Glare can also be avoided by placing blinds over nearby windows, or using a glare screen. (2, 5)

In addition to adjusting the position of your screen, you can also minimise eye problems by simply blinking more frequently.

Many people don’t realise that they actually blink less when they look at a screen. (2)

Blinking is important, however, as it washes your eyes in their naturally therapeutic fluids. (5)

It is also important to take breaks from looking at your screen. One easy way to remember this is to think of 20-20-20. This reminds you that every 20 minutes you should try to look at something 20 feet away for a minimum of 20 seconds. (5)

It is also recommended to take breaks from your screen altogether, in particular every 2 hours. (2)
Can looking at screens improve eyesight?

Despite the potential eye problems caused by looking at a screen too frequently, research carried out in the US has actually found that some screen viewing can be of benefit to the eyes.

Specifically, they found that playing video games can improve vision.

This is because playing video games gives the users chance to improve their contrast sensitivity. (8)

Contrast sensitivity refers to how faded an object can be before it is impossible to differentiate it from the same field of view. It is something that is affected by ageing. (8, 9)

Contrast sensitivity is particularly important for activities such as driving in poor visibility, like in fog or at night. (8)
Overall does looking at computers damage your eyes?

Overall it seems that although looking at a computer may not cause permanent eye damage, it can cause some irritating problems, such as eye strain and dry eyes.

It is also important to remember, that there are many other potential problems associated with sitting down and staring at a computer for long periods of times, such as deep vein thrombosis (DVT). (10)

History of DNA Research

DNA was first isolated by the Swiss physician Friedrich Miescher who, in 1869, discovered a microscopic substance in the pus of discarded surgical bandages. As it resided in the nuclei of cells, he called it "nuclein". In 1919, Phoebus Levene identified the base, sugar and phosphate nucleotide unit. Levene suggested that DNA consisted of a string of nucleotide units linked together through the phosphate groups. However, Levene thought the chain was short and the bases repeated in a fixed order. In 1937 William Astbury produced the first X-ray diffraction patterns that showed that DNA had a regular structure.

In 1928, Frederick Griffith discovered that traits of the "smooth" form of the ''Pneumococcus'' could be transferred to the "rough" form of the same bacteria by mixing killed "smooth" bacteria with the live "rough" form. This system provided the first clear suggestion that DNA carried genetic information—the Avery-MacLeod-McCarty experiment—when Oswald Avery, along with coworkers Colin MacLeod and Maclyn McCarty, identified DNA as the transforming principle in 1943. DNA's role in heredity was confirmed in 1952, when Alfred Hershey and Martha Chase in the Hershey-Chase experiment showed that DNA is the genetic material of the T2 phage.

In 1953 James D. Watson and Francis Crick suggested what is now accepted as the first correct double-helix model of DNA structure in the journal ''Nature''. taken by Rosalind Franklin and Raymond Gosling in May 1952, as well as the information that the DNA bases were paired—also obtained through private communications from Erwin Chargaff in the previous years. Chargaff's rules played a very important role in establishing double-helix configurations for B-DNA as well as A-DNA.

Experimental evidence supporting the Watson and Crick model were published in a series of five articles in the same issue of ''Nature''. Of these, Franklin and Gosling's paper was the first publication of their own X-ray diffraction data and original analysis method that partially supported the Watson and Crick model; this issue also contained an article on DNA structure by Maurice Wilkins and two of his colleagues, whose analysis and ''in vivo'' B-DNA X-ray patterns also supported the presence ''in vivo'' of the double-helical DNA configurations as proposed by Crick and Watson for their double-helix molecular model of DNA in the previous two pages of ''Nature''. In 1962, after Franklin's death, Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine. Unfortunately, Nobel rules of the time allowed only living recipients, but a vigorous debate continues on who should receive credit for the discovery.

In an influential presentation in 1957, Crick laid out the "Central Dogma" of molecular biology, which foretold the relationship between DNA, RNA, and proteins, and articulated the "adaptor hypothesis". Final confirmation of the replication mechanism that was implied by the double-helical structure followed in 1958 through the Meselson-Stahl experiment. Further work by Crick and coworkers showed that the genetic code was based on non-overlapping triplets of bases, called codons, allowing Har Gobind Khorana, Robert W. Holley and Marshall Warren Nirenberg to decipher the genetic code. These findings represent the birth of molecular biology.

MIGRAINE

A migraine is a common type of headache that may occur with symptoms such as nausea, vomiting, or sensitivity to light. In many people, a throbbing pain is felt only on one side of the head.

Some people who get migraines have warning symptoms, called an aura, before the actual headache begins. An aura is a group of symptoms, including vision disturbances, that are a warning sign that a bad headache is coming.

See also:


Cluster headache


Tension headache
Causes, incidence, and risk factors

Migraine headaches tend to first appear between the ages of 10 and 45. Sometimes they may begin later in life.


Migraines occur more often in women than men


Migraines may run in families


Some women, but not all, may have fewer migraines when they are pregnant

A migraine is caused by abnormal brain activity, which can be triggered by a number of factors. However, the exact chain of events remains unclear. Today, most medical experts believe the attack begins in the brain, and involves nerve pathways and chemicals. The changes affect blood flow in the brain and surrounding tissues.

Alcohol, stress and anxiety, certain odors or perfumes, loud noises or bright lights, and smoking may trigger a migraine. Migraine attacks may also be triggered by:


Caffeine withdrawal


Changes in hormone levels during a woman's menstrual cycle or with the use of birth control pills


Changes in sleep patterns


Exercise or other physical stress


Missed meals


Smoking or exposure to smoke

Migraine headaches can be triggered by certain foods. The most common are:


Any processed, fermented, pickled, or marinated foods, as well as foods that contain monosodium glutamate (MSG)


Baked goods, chocolate, nuts, peanut butter, and dairy products


Foods containing tyramine, which includes red wine, aged cheese, smoked fish, chicken livers, figs, and certain beans


Fruits (avocado, banana, citrus fruit)


Meats containing nitrates (bacon, hot dogs, salami, cured meats)


Onions

This list may not include all triggers.

True migraine headaches are not a result of a brain tumor or other serious medical problem. However, only an experienced health care provider can determine whether your symptoms are due to a migraine or another condition.
Symptoms

Vision disturbances, or aura, are considered a "warning sign" that a migraine is coming. The aura occurs in both eyes and may involve any or all of the following:


A temporary blind spot


Blurred vision


Eye pain


Seeing stars or zigzag lines


Tunnel vision

Other warning signs include yawning, difficulty concentrating, nausea, and trouble finding the right words.

Not every person with migraines has an aura. Those who do usually develop one about 10 - 15 minutes before the headache. However, an aura may occur just a few minutes to 24 hours beforehand. A headache may not always follow an aura.

Migraine headaches can be dull or severe. The pain may be felt behind the eye or in the back of the head and neck. For many patients, the headaches start on the same side each time. The headaches usually:


Feel throbbing, pounding, or pulsating


Are worse on one side of the head


Start as a dull ache and get worse within minutes to hours


Last 6 to 48 hours

Other symptoms that may occur with the headache include:


Chills


Increased urination


Fatigue


Loss of appetite


Nausea and vomiting


Numbness, tingling, or weakness


Problems concentrating, trouble finding words


Sensitivity to light or sound


Sweating

Symptoms may linger even after the migraine has gone away. Patients with migraine sometimes call this a migraine "hangover." Symptoms can include:


Feeling mentally dull, like your thinking is not clear or sharp


Increased need for sleep


Neck pain
Signs and tests

Your doctor can diagnose this type of headache by asking questions about your symptoms and family history of migraines. A complete physical exam will be done to determine if your headaches are due to muscle tension, sinus problems, or a serious brain disorder.

There is no specific test to prove that your headache is actually a migraine. However, your doctor may order a brain MRI or CT scan if you have never had one before or if you have unusual symptoms with your migraine, including weakness, memory problems, or loss of alertness.

An EEG may be needed to rule out seizures. A lumbar puncture (spinal tap) might be done.
Treatment

There is no specific cure for migraine headaches. The goal is to treat your migraine symptoms right away, and to prevent symptoms by avoiding or changing your triggers.

A key step involves learning how to manage your migraines at home. A headache diary can help you identify your headache triggers. Then you and your doctor can plan how to avoid these triggers.

If you have frequent migraines, your doctor may prescribe medicine to reduce the number of attacks. You need to take the medicine every day for it to be effective. Medications may include:


Antidepressants such as amitriptyline or venlafaxine


Blood pressure medicines such as beta blockers (propanolol) or calcium channel blockers (verapamil)


Seizure medicines such as valproic acid, gabapentin, and topiramate

Botulinum toxin (Botox) injections may also help reduce migraine attacks.

TREATING AN ATTACK

Other medicines are taken at the first sign of a migraine attack. Over-the-counter pain medications such as acetaminophen, ibuprofen, or aspirin are often helpful when your migraine is mild. Be aware, however, that:


Taking medicines more than 3 days a week may lead to rebound headaches -- headaches that keep coming back.


Taking too much acetaminophen can damage your liver. Too much ibuprofen or aspirin can irritate your stomach.

If these treatments don't help, ask your doctor about prescription medicines. These include nasal sprays, suppositories, or injections. Your doctor can select from several different types of medications, including:


Triptans -- prescribed most often for stopping migraine attacks


Ergots -- contain different forms of ergotamine


Isometheptene (Midrin)

Some migraine medicines narrow your blood vessels. If you are at risk for heart attacks or have heart disease, talk with your health care provider before using these medicines. Do not take ergots if you are pregnant or planning to become pregnant.

Other medications are given to treat the symptoms of migraine. They may be used alone or along with other drugs. Medications in this group include:


Nausea medicines


Sedatives such as butalbital


Narcotic pain relievers

Feverfew is a popular herb for migraines. Several studies, but not all, support using feverfew for treating migraines. If you are interested in trying feverfew, make sure your doctor approves. Also, know that herbal remedies sold in drugstores and health food stores are not regulated. Work with a trained herbalist when selecting herbs.
Support Groups

American Council for Headache Education - www.achenet.org

The National Migraine Association - www.migraines.org

National Headache Foundation - www.headaches.org
Expectations (prognosis)

Every person responds differently to treatment. Some people have rare headaches that need little to no treatment. Others need to take several medications or even go to the hospital sometimes.

Migraine headache is a risk factor for stroke in both men and women. The risk is higher in people who have migraines that occur with aura. People with migraines should avoid other risk factors for stroke, include smoking, taking birth control pills, and eating an unhealthy diet.
Calling your health care provider

Call 911 if:


You are experiencing "the worst headache of your life"


You have speech, vision, or movement problems or loss of balance, especially if you have not had these symptoms with a migraine before


Your headaches are more severe when lying down


The headache starts very suddenly

Also, call your doctor if:


Your headache patterns or pain change


Treatments that once worked are no longer helpful


You have side effects from medication, including irregular heartbeat, pale or blue skin, extreme sleepiness, persistent cough, depression, fatigue, nausea, vomiting, diarrhea, constipation, stomach pain, cramps, dry mouth, or extreme thirst


You are pregnant or could become pregnant -- some medications should not be taken when pregnant

See the general article on headaches for more information on emergency symptoms.

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001728/

Technique may reveal where it all began

BOSTON — Predicting the future is notoriously difficult, but uncovering the past can be just as tricky. Now researchers have developed a method that looks backward and may reveal where a widespread phenomenon originated, be it the outbreak of a disease or a new technology.
Typically techniques for deriving the origin of something rely on the notion that whatever is spreading will take a certain time to travel a certain distance. But with planes, trains and automobiles, geographic distance by itself is no longer a good predictor of arrival time, said Dirk Brockmann, who presented the new approach February 28 at a meeting of the American Physical Society. That population densities aren’t uniform across an area makes estimating spread using geography alone even more difficult.
The new method still relies on distance, but not one constrained by geography. Just as diagramming the relationships among friends can yield close or “coupled” people, even if they live far apart, diagrams of relationships among locations that consider the traffic between them can yield coupled locations. Using such relationships, Brockmann, of Northwestern University in Evanston, Ill., and his colleagues came up with a way to compute paths that are in effect the shortest between locations, even if they are far apart geographically.
Once that path diagram is in hand, the researchers can test whether various starting points might be the root of the branching, treelike spread of whatever phenomenon is being studied. A clean, circular diagram emerges when the correct root is identified, computer simulations reveal.
“Computer simulations are among the most useful tools in our armory,” says Bill Hanage, an epidemiologist at Harvard School of Public Health who has been tracing the origins of last year’s E. coli outbreak in Europe, which killed dozens of people. Such simulations are particularly helpful if they work even with poor or biased samples of data, he says.

4 New Genes Linked to Type 2 Diabetes

Four new genes associated with type 2 diabetes have been identified by researchers, who also pinpointed six independent diabetes-associated gene variants at previously known locations on chromosomes.
These findings, from an analysis of 50,000 genetic variants across 2,000 genes linked to heart and metabolic function, appear in the Feb. 9 issue of the American Journal of Human Genetics.
The results offer valuable insight into the genetic risk for type 2 diabetes in multiple ethnic groups and could help lead to new treatments, according to a journal news release.
A number of environmental and genetic factors are associated with type 2 diabetes.
"Together, known [type 2 diabetes] genetic variants explain only about 10 percent of the genetic variance, indicating that additional genetic factors are likely to contribute to disease risk," senior study co-author Dr. Brendan Keating, of The Children's Hospital of Philadelphia, said in the news release.
"Further, previous studies have been based almost exclusively on individuals of European ancestry, and genetic contributors to [type 2 diabetes] are less well understood in non-European populations," he added. "An important first step towards understanding genetic risk across populations is to establish whether known [diabetes-associated] genes span ethnicities or are population-specific."
Keating and an international team of colleagues analyzed 39 multiethnic studies on type 2 diabetes that included more than 17,000 people with diabetes and 70,000 people without the disease.
"As a result of our large-scale genetic analysis, we uncovered previously unknown European and multiethnic genetic variants and confirmed that, together, known genetic risk factors influence [type 2 diabetes] risk in multiethnic populations, including African-Americans, Hispanics and Asians," senior co-author Richa Saxena, of Massachusetts General Hospital and Harvard Medical School, said in the release.
Saxena said that identifying new genes associated with type 2 diabetes in diverse ethnic groups could eventually guide strategies for developing treatments.

Drug halts organ damage in inflammatory genetic disorder

A new study shows that Kineret (anakinra), a medication approved for the treatment of rheumatoid arthritis, is effective in stopping the progression of organ damage in people with neonatal-onset multisystem inflammatory disease (NOMID). This rare and debilitating genetic disorder causes persistent inflammation and ongoing tissue damage. The research was performed by scientists at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health.
NOMID affects numerous organs and body systems, including the skin, joints, eyes, and central nervous system. The first sign of the disease is often a rash that develops within the first weeks of life. Other problems, including fever, meningitis, joint damage, vision and hearing loss, and mental retardation, can follow. Kineret, one of a relatively new class of drugs known as biologic response modifiers or biologics, blocks the activity of interleukin-1 (IL-1), a protein made by cells of the immune system. IL-1 is overproduced in NOMID and a number of other diseases, leading to damaging inflammation. Previous work by the same NIAMS group showed that blocking IL-1 was effective in relieving symptoms of NOMID. However, this is the first study to show that Kineret works over the long-term and, at higher doses, can also control damage that often results in vision and hearing loss, and brain lesions.
“Inflammation prolonged over many years will eventually cause irreversible damage and loss of function,” said lead author Dr. Raphaela Goldbach-Mansky of the NIAMS Translational Autoinflammatory Disease Section.
For example, inflammation of the cochlea — a tiny structure of the inner ear — was found to be responsible for hearing loss in people with NOMID. Thinning of the optic nerve caused by inflammation-related pressure in the brain has been identified as a cause of vision loss.
“We knew we could effectively block inflammation in the inner ear and in the brain and eyes. The next step was to find out if we could sufficiently prevent the progression of hearing or vision loss,” said Goldbach-Mansky.
The group sought the answers to their questions in the study published online in Arthritis & Rheumatism. Study participants, who ranged in age from 10 months to 42 years, were treated with daily doses of Kineret based on body weight — 1 to 5 milligrams of Kineret per kilogram of body weight (1 to 5 mg/kg/day) — for at least 36 months and as long as 60 months. Disease activity was monitored with blood tests to measure C-reactive protein, a marker for inflammation in the body, and by daily diaries kept by the patients or their parents. The researchers also used sensitive MRI imaging methods to assess inflammation in the inner ear and brain.
Researchers found the initial Kineret doses used were insufficient to control organ inflammation, but by increasing the dose, they were able to do so. By preventing organ inflammation, scientists were able to preserve organ function in most patients. In addition, the scientists found ways to predict who is at greatest risk of hearing and vision loss.
“The few patients in the study who had hearing loss were also the ones who continued to have inflammation in the inner ear,” said the study's first author Dr. Cailin H. Sibley. “We also found that people who had thin optic nerves when we assessed their vision were more likely to lose vision than those who had thick optic nerves, simply because they had already lost fibers due to untreated disease and, therefore, started with a huge disadvantage.”
These findings point to the importance of early diagnosis and treatment to keep organ damage from developing. “We are continuing the study with an emphasis on enrolling very young children to prospectively show that we can prevent any organ damage from developing if we start treatment early in life,” Goldbach-Mansky said.
Because IL-1 is needed to fight infections, there has been concern that blocking it with high doses of Kineret might leave the body vulnerable to infections. But overall, the study drug was well tolerated. “While we have seen infections in the study, none were serious enough to discontinue the drug, and all healed well with appropriate treatment.”
While Kineret is not a cure for NOMID — its effects last only as long as the drug is taken — the study offers hope for people with the disease. “Without Kineret, people with NOMID are at risk of progressive organ damage that results in hearing and vision loss, cognitive impairment and, in many cases, early death. As many as 20 percent of children with this genetic disorder do not live to adulthood,” said Goldbach-Mansky. “This study shows that treatment over five years is safe and effective, and can prevent organ damage.”
In addition to funding from the NIAMS, portions of this work were also supported by the Intramural Research Programs of the National Cancer Institute, the National Institute on Deafness and Other Communication Disorders, the National Eye Institute, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, and the NIH Clinical Center.