Gene discovered that reduces risk of stroke

Lab microscope (stock image). The discovery of a gene that protects people against one of the major causes of stroke could lead to new treatments and prevention strategies for the disease.
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Scientists have discovered a gene that protects people against one of the major causes of stroke in young and middle-aged adults and could hold the key to new treatments.

Researchers from Royal Holloway, University of London, together with an international team from across the United States and Europe, have found that people with a specific variant of a gene, known as PHACTR1, are at reduced risk of suffering cervical artery dissection, which is caused by a tear in an artery that leads to the brain.

The new discovery, published in the journal Nature Genetics, could lead to new treatments and prevention strategies for the disease, which is a major cause of stroke in young adults. The same gene variant has also been identified as a protector against migraines and affects the risk of heart attack.

Professor Pankaj Sharma, from the School of Biological Sciences at Royal Holloway, said: "This is an important breakthrough. Our findings provide us with a greater understanding of how this region of the genome appears to influence key vascular functions, which could have major implications for the treatment of these severe and disabling conditions. "

In the largest study of its kind ever undertaken, researchers from around the world screened the entire genome of 1,400 patients with cervical artery dissection, along with 14,400 people without the disease. Cervical artery dissection can lead to compression of adjacent nerves and to blood clotting, potentially causing blockage of vessels and brain damage.

Professor Sharma, Professor of Clinical Neurology at Royal Holloway, added: "Further genetic analyses and worldwide collaborations of this kind provide hope of pinpointing the underlying mechanisms that cause stroke. The Bio-Repository of DNA in Stroke (BRAINS) study I am leading is creating a large stroke DNA biobank which will give an exciting opportunity to identify the genes directly linked to the condition."

Source: University of Royal Holloway London

Neck manipulation may be associated with stroke

Vertebral artery as it passes through the neck vertebrae of the spine and enters the skull base. Arrows indicate head movement during lateral rotation and lateral flexion, motions that may be performed as part of a neck manipulation. Credit: © 2013 Trial FX.

Manipulating the neck has been associated with cervical dissection, a type of arterial tear that can lead to stroke. Although a direct cause-and-effect link has not been established between neck manipulation and the risk of stroke, healthcare providers should inform patients of the association before they undergo neck manipulation.

Treatments involving neck manipulation may be associated with stroke, though it cannot be said with certainty that neck manipulation causes strokes, according to a new scientific statement published in the American Heart Association's journal Stroke.

Cervical artery dissection (CD) is a small tear in the layers of artery walls in the neck. It can result in ischemic stroke if a blood clot forms after a trivial or major trauma in the neck and later causes blockage of a blood vessel in the brain. Cervical artery dissection is an important cause of stroke in young and middle-aged adults.

"Most dissections involve some trauma, stretch or mechanical stress," said José Biller, M.D., lead statement author and professor and chair of neurology at the Loyola University Chicago Stritch School of Medicine. "Sudden movements that can hyperextend or rotate the neck -- such as whiplash, certain sports movements, or even violent coughing or vomiting -- can result in CD, even if they are deemed inconsequential by the patient."

Although techniques for cervical manipulative therapy vary, some maneuvers used as therapy by health practitioners also extend and rotate the neck and sometimes involve a forceful thrust.

There are four arteries that supply blood to the brain: the two carotid arteries on each side of the neck, and the two vertebral arteries on the back of the neck. The influence of neck manipulation seems more important in vertebral artery dissection than in internal carotid artery dissection.

"Although a cause-and-effect relationship between these therapies and CD has not been established and the risk is probably low, CD can result in serious neurological injury," Biller said. "Patients should be informed of this association before undergoing neck manipulation."

The association between cervical artery dissection and cervical manipulative therapies was identified in case control studies, which aren't designed to prove cause and effect. An association means that there appears to be a relationship between two things, i.e., manipulative therapy of the neck and a greater incidence of cervical dissection/stroke. 

However, it's not clear whether other factors could account for the apparent relationship.

The relationship between neck manipulation and cervical artery dissection is difficult to evaluate because patients who already are beginning to have a cervical artery dissection may seek treatment to relieve neck pain, a common symptom of cervical artery dissection that can precede symptoms of stroke by several days.

You should seek emergency medical evaluation if you develop neurological symptoms after neck manipulation or trauma, such as:

• Pain in the back of your neck or in your head;
• Dizziness/vertigo;
• Double vision;
• Unsteadiness when walking;
• Slurred speech;
• Nausea and vomiting;
• Jerky eye movements.

"Tell the physician if you have recently had a neck trauma or neck manipulation," Biller said. 

"Some symptoms, such as dizziness or vertigo, are very common and can be due to minor conditions rather than stroke, but giving the information about recent neck manipulation can raise a red flag that you may have a CD rather than a less serious problem, particularly in the presence of neck pain."

Source: American Heart Association

How to sell the drugs of the future

Drugs
Credit: Getty Images

Only a decade ago, basing medical treatment on your DNA seemed like science fiction. Not any more. Thanks in part to the sequencing of the human genome, personalized medicine (PM), a specific course of treatment developed for the individual patient, is now science fact.

PM has already shown its effectiveness in the treatment of cancer, and medical professionals are eager to expand it to treat other chronic diseases. But first patients need to understand how PM can work for them.

Will they buy into it? "Yes -- but only if patients are armed with knowledge about their own disease and understand the relative advantages of PM," says Concordia University marketing professor Lea Prevel Katsanis, the co-author of a new study on the subject, published in the International Journal of Pharmaceutical and Healthcare Marketing. She adds that if patients are going to accept PM, doctor-patient communication is vital.

For the study, Katsanis and her co-author, Anja Hitz, a former John Molson School of Business MBA student and current head of medical compliance and prevention at the Military Hospital in Hamburg, Germany, polled 307 consumers through an online survey. 
They found that knowledge and the relative advantages of PM have the most significant influence on patient acceptance of PM.

"The more a patient knows about how she is being treated, the more likely she is to accept that treatment," says Katsanis. "So it's important to educate consumers on potential benefits and risks associated with PM."

Indeed, patient understanding is a key factor in getting healthcare professionals, governments and insurance companies to adopt and pay for PM, particularly when these targeted treatments are often more costly than traditional medical methods.

With PM, the same drug isn't given to millions of people. It's a targeted treatment regime. While that reduced patient pool means an increased cost, there can be long-term benefits. Increased efficiency and prevention may result in fewer drugs being prescribed. And PM may also result in the reduction of secondary costs as a result of overdosing, incorrect prescriptions and adverse drug reactions.

"If PM can be successfully integrated into the healthcare system at a reasonable cost, it represent a significant improvement in the treatment of chronic disease," says Katsanis.

But she warns that marketers need to proceed with caution: "The promotion of personalized medications will increasingly focus on the healthy patient with a genetic disposition for a particular illness. While this might lead to new and potentially greater opportunities for marketers, it might also result in the targeting of healthy patients who don't actually need treatment for an active disease. Ultimately, this could increase healthcare costs and cause unnecessary patient treatment."

Source: Concordia University

New technology allows medical professionals to step into their patients' shoes

Transports is a piece of technology that uses a low cost Raspberry Pi computer system, and allows users to recreate symptoms including dizziness and speech problems, along with wearable technology which creates a 6Hz tremor in the participant’s right hand. Credit: Image courtesy of University of Royal Holloway London

A pioneering piece of technology will allow users to experience the world through the eyes of a person with Young-Onset Parkinson's disease -- which could revolutionise the way carers and medical staff treat people with the degenerative condition.

Analogue, a theatre company set up by alumni of Royal Holloway, University of London has designed Transports -- a piece of technology which uses a low cost Raspberry Pi computer system, and allows users to recreate symptoms including dizziness and speech problems, along with wearable technology which creates a 6Hz tremor in the participant's right hand.
Young-Onset Parkinson's is a form of the neurological condition which affects people aged under 50. Symptoms of the disease include tremors, slowed movement and falls, and with no cure currently available, how care and treatment are managed can make a significant difference to a patient's quality of life.

The revolutionary project has been designed in collaboration with neuroscience specialist, Professor Narender Ramnani from the Department of Psychology at Royal Holloway, along with carers, researchers and people with the disease, at Parkinson's UK to ensure it is as effective and realistic as possible.

Liam Jarvis, Co-director of Analogue and Drama PhD Student at Royal Holloway, said: "Our principal interest is to work out how we can improve and facilitate communication and empathy by using simple technologies to immerse participants in the remote embodied experiences of others. Using inexpensive Raspberry Pi technology, we hope to expand the project to place participants inside different virtual subjects as an aid to better understand the experience of others."

The technology will now be tested with BSc psychology students at Royal Holloway and carers at Parkinson's UK to see how it can help medical practitioners better understand their patients and in the long term improve the treatment of the disease.

Anna Farrer, User Involvement Advisor at Parkinson's UK, said:"We know that people with Parkinson's feel that better public awareness about the condition would mean that they face less discrimination and have a better quality of life. Projects such as Transports have an important role educating the public, raising awareness -- and we hope, changing attitudes."

Source: University of Royal Holloway London