The journal Science named HPTN 052 the 2011 Breakthrough of the Year and said, “The results have galvanized efforts to end the world’s AIDS epidemic in a way that would have been inconceivable even a year ago.”  The study results, published in The New England Journal of Medicine, were released years ahead of schedule because the results were so compelling: treating HIV-infected people with immediate antiretroviral therapy (ART) reduces the risk of transmission by an astounding 96%.

The treatment-as-prevention strategy has the potential for a one-two punch: keeping infected people healthy and helping keep their partners HIV-free. Dr. Julio Montaner says, “Study HPTN 052 conclusively shows that when an infected person receives ART, the ability of the virus to replicate is shut down immediately. At that point, the virus becomes almost undetectable in the blood, and as immunity recovers, the person leads a near-normal life and both AIDS and death are potentially prevented.” Dr. Montaner is Director of the British Columbia Centre for Excellence in HIV/AIDS and Past-President of the International AIDS Society.

The large-scale randomized clinical trial measured the impact of HIV treatment in 1,763 couples (where one partner was HIV positive) in 13 sites across nine countries including Asia, Africa, and the United States. Originally designed to measure the difference between early and delayed ART, the study was halted years ahead of schedule after results showed that early treatment was cutting the transmission rate so dramatically.  Myron S. Cohen, MD of the University of North Carolina at Chapel Hill, Institute for Global Health and Infectious Diseases led the study, which was funded by the National Institutes of Health and conducted by the HIV Prevention Trials Network.

Right now there are 34 million people around the world who are living with AIDS – 27 million are located in Sub-Saharan Africa and South and South-East Asia. Yet only about 6.65 million are currently receiving treatment.

The tide has turned in the war against HIV/AIDS. The conclusive evidence from HPTN 052 gives the world an extraordinary opportunity to move forward and work on eradicating the disease for good. In his editorial comment in The Lancet, Dr. Montaner stated, “The evidence is in: treatment is prevention. Treatment dramatically prevents morbidity and mortality, HIV transmission, and tuberculosis. The challenge remains to optimize the impact of this valuable intervention. Failure to do so is not an option.”

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Read our earlier post about study HPTN 052, “World AIDS Day: Treatment as Prevention to Halt HIV/AIDS Epidemic.” Watch a video where U.S. Secretary of State Hillary Rodham Clinton speaks about “Creating an AIDS-Free Generation.” For more news on HIV/AIDS, read our blog posts: “Gamers Solve Puzzle in HIV/AIDS Research that Stumped Scientists,” “Anti-HIV Gel Promising Prevention Method for Women,” “Rapid Testing Technology Could Slow the Spread of AIDS,” “HIV Prevention: One Penny Saves One Life,” and “New Computer Modeling Analyzes Drug Therapies for HIV Patients.”

What would you do if the universe gave you a second chance? Matthew Lehrman is using his second chance to go to college. And while his mother will miss him when he leaves New York in September for Centenary College in Hackettstown, NJ, Roberta Lehrman is encouraging her son’s flight from the nest. “This,” she says, “is his opportunity to feel he’s just like everybody else.”

Matthew, however, is not like everybody else. His mother was afraid he wouldn’t live long enough to have a Bar Mitzvah, let alone attend college.

Shortly after his 7^th birthday, Roberta took Matthew to a local emergency room, where a CT scan revealed what had been causing his escalating nighttime headaches and vomiting: medulloblastoma, a rapidly growing, malignant tumor located in the cerebellum. The 11-hour surgery that followed yielded even more devastating news: The cancer had spread to Matthew’s spine. “I thought he was going to die,” recalls Roberta. “That’s what went through my mind: he’s not going to make it.”

The prescribed course of therapy, which would have involved radiation to the brain and spine followed by several months of standard-dose chemotherapy, offered a gloomy 30% chance of survival. “That just wasn’t good enough,” says Roberta. If treatment failed and Matthew didn’t make it, she didn’t want to look back and wonder whether she could have done something more.

Finally, Roberta was referred to the Stephen D. Hassenfeld Children’s Center for Cancer and Blood Disorders at NYU Langone, considered one of the most innovative outpatient treatment centers in the country.

She decided to transfer Matthew there for treatment. The people at Hassenfeld “are an amazing team,” says Roberta. “They were very positive, very up.”

At the time, pediatric oncologist Sharon Gardner, MD, and her colleagues were pioneering “Head Start,” a revolutionary new treatment protocol for young children with brain tumors that aims to limit damage to the growing brain by avoiding or minimizes the use of radiation.

“Head Start” patients undergo daily, high-dose chemotherapy for one week out of every month for five months, followed by a sixth round of even more intensive chemo and an autologous stem cell transplant. Matthew’s disease was both aggressive and advanced, and doctors decided to pull out all the stops to try to save his life. In Matthew’s case, “we weren’t able to eliminate radiation,” explains Dr. Gardner. “But we were able to postpone it until he was a little older.”

Following each chemotherapy cycle at Hassenfeld, Matthew had to be hospitalized at Langone so doctors could manage his high fevers, low blood-cell counts and transfusions. After his stem cell transplant, Matthew underwent six weeks of highly targeted proton-beam radiation. “It was,” says Dr. Gardner, “a long siege. Without both pieces—very intensive chemotherapy and radiation–there’s a good chance Matthew wouldn’t be alive.”

Despite his grueling ordeal, Roberta says Matthew coped “amazingly well,” thanks largely to the care he received at Hassenfeld and NYU Langone. Now cancer-free, Matthew “is doing great,” says Dr. Gardner, who notes that the Head Start protocol has become standard for young children with brain tumors. “But he is obviously a little different than kids who didn’t go through what he went through.”

Matthew still struggles with balance problems, partial hearing loss and learning disabilities. But he refuses to let them rule. “I’ve learned to push hard and work,” he says. In June, Matthew graduated from Community High School in Teaneck, NJ, a specialized school for children aged 14–18 with learning disabilities “After having cancer, I never thought I would be able to do so well in school,” he says proudly. “The lowest I’ve ever gotten on my report card is a B.”

According to Hassenfeld’s director, Dr. Linda Granowetter, children who have survived cancer, often become “special, more empathic people.” In discussing them, she quotes Ernest Hemingway, who famously said, “The world breaks everyone, and afterward, some are strong at the broken places.”

Dr. Gardner believes that’s true of Matthew. “Matthew is an incredible inspiration for all of us,” she says. “Because of the tumor and the radiation and the chemo, his life isn’t easy. But he’s always looking for new experiences, and he doesn’t let it slow him down!”

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Find out more information about pediatric brain tumors, including medulloblastoma, at the National Cancer Institute, the Pediatric Brain Tumor Foundation, and the Mayo Clinic.

Imagine living with an unknown genetic disease that causes excruciating pain just from walking. Consider what it is like to spend years undergoing tests at major institutions – places like Harvard, the Mayo Clinic, and others – and still leave doctors scratching their heads.

That is what happened to nine siblings, most in their forties and fifties, from three families. They were all suffering from ACDC, a newly discovered degenerative disease causing their arteries to harden with calcium deposits as thick as deposits found in water pipes. The disease had been a medical mystery until earlier last year, when researchers at the National Institutes of Health Undiagnosed Diseases Program (UDP) discovered that arterial calcification occurs due to a very rare deficiency in CD73, a protein that produces a molecule that prevents calcification.

The siblings still cannot walk more than short distances without pain, but the UDP has obtained FDA approval to administer drugs that could improve the patients’ conditions. These successes and others in the program were announced in the September 26, 2011 issue of the journal Genetics in Medicine.

The government-funded program, an offshoot of the National Human Genome Research Institute (NHGRI), began three years ago and is free to patients. More than 326 people have been accepted and of these, neurological disorders account for nearly half. Commenting on the high percentage of neurological cases, Dr. Cynthia Tifft, Deputy Clinical Director of NHGRI, says, “Many of the unsolved mysteries in medicine revolve around the brain.”

Most patients spend a week at the UDP clinic in Bethesda, Maryland, where they undergo a battery of diagnostic tests in one week. After the patients leave, the UDP researchers hit the lab and conduct meticulous tests looking at gene sequences in the patients’ DNA. First they must pinpoint the source of a defect and then prove that the mutation is actually causing the patient’s problem. Says Dr. Tifft, “We’re looking for a needle in a haystack. Because these diseases are new or extremely rare, it’s like conducting a research study for one person.”

Another case the researchers solved was that of a woman with a painful buildup of protein in her muscles. This turned out to be amyloidosis, a rare bone marrow disease. Armed with this knowledge, her doctors improved her condition with a stem cell bone marrow transplant.

UDP doctors hope that unlocking the mysteries of rare disorders will help in understanding and treating more common diseases, from osteoporosis to Alzheimer’s. Meanwhile, for the patients in the UDP, often there is no proven remedy. The doctors send patients home to their own physicians with recommendations for symptom relief.

There have been so many applicants for the UDP that it was closed to new patients for a while, but is now open for new applications. The caveats: Not everyone is accepted, a correct diagnosis is not always found, and there is a waiting list to begin the process. Yet for people who have exhausted all other options, the UDP may still offer hope.

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To read more, visit NIH News. The New York Times had an excellent article as well. More information on how patients with longstanding medical conditions that elude diagnosis by a referring physician may be considered for UDP studies, go to NIH Office of Rare Diseases Research (ORDR) – Undiagnosed Diseases Program.

“So often we read about medical discoveries,” says Chris Coburn, the CCF’s executive director of innovations, “but reaching a critical mass stage, where the science and need and funding come together to create access for individuals, is what our process really does.  For the items on this list, the technology is no longer a question mark and access is opening up. We’re talking about tens of millions of lives.”

The winning innovations include:

Catheter-based renal denervation to control resistant hypertension. One in three American adults is said to have hypertension, or high blood pressure. For many of them, the condition is “resistant”—it doesn’t respond to medical treatment of fewer than four medications to control it. Renal denervation can lower blood pressure in a new 40-minute procedure using a catheter that delivers low-level radio-frequency energy to the kidneys — a development so momentous that the panel ranked it first among all innovations. “This technology is a game-changer,” Coburn says. “It will allow simple denervation to result in a permanent lowering of blood pressure and permanently remove drug requirements for the patient. It’s a great example of the power of technology.”

Concussion management system for athletes. Nearly 4 million sports and recreation related concussions occur each year, many of which never cause a loss of consciousness. That means athletes often return to their sports too soon, risking more serious injuries if injured a second time. New special management systems measure the athlete’s baseline cognitive and motor skills at the start of the playing season, and a special mouthguard that uses Bluetooth technology measures and reports impact data immediately following a blow to the head.

Active, wearable bionic prostheses for amputees. Prostheses of one kind or another have been around for centuries, but these models actually communicate. “Imagine walking on your hands and knees, with a block in one hand,” Coburn says. “You can’t feel the ground. That’s what prostheses have felt like in the past.” But a consequence of so many soldiers returning from Iraq and Afghanistan with missing limbs, he says, has been a dramatic advance in artificial limb technology. The newest limbs have sensors, he says, “just like skin. It tells you your foot is now touching the ground.”

Harnessing data to improve healthcare. It’s called “big data,” the 2.5 quintillion bytes of data created daily. Managing or even accessing data necessary to provide and coordinate healthcare can be overwhelming, but this year has seen new tools to do just that. “It’s bringing new efficiency to patient care at the individual level,” Coburn says, “and then aggregating it with billions of records. So on a single question that might have taken days to answer in the past, now can be addressed in seconds—or less.”

The remaining Top Innovations for 2012 are:

* CT Scans for detection of lung cancer

* Medical apps for mobile devices

* Next-generation gene sequencing

* Implantable devices to treat brain aneurysms

* SGLT2 inhibitors for diabetes therapy

* Genetically modifying mosquitoes to reduce diseases such as malaria, dengue and yellow fever

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Visit the Cleveland Clinic’s website for more information on the Medical Innovation Summit and winning innovations. For more news about medical innovations, check out our blog posts: “GE’s $100 Million Challenge to Find and Fund Breast Cancer Breakthrough Ideas,” “Technology Innovations for Independent Aging,” and “Digital Health Transforms the Doctor-Patient Relationship.”

But it was no ordinary video game. Scientists in charge of the research had created the game specifically to solve a scientific puzzle that had baffled scientists for more than a decade: to determine the structure of a key enzyme that helps cause AIDS in monkeys. If they solved the problem correctly, they knew, it might lead to new drugs to treat HIV/AIDS in people. “The cool thing about this scientific discovery game is that we’re able to pass on a level of expertise to people who have none,” says Firas Khatib, a biochemist at the University of Washington who helped design the game.

Gaming has moved far beyond the world of recreation. Video games and simulations are now used to train surgeons, airline pilots, firefighters, soldiers, CIA agents and city planners—not to mention rehabilitate injured patients and motivate dieters, according to a 2010 story by Adam Penenberg in Fast Company magazine.

Khatib, his research advisor, David Baker, and their colleagues turned to gamers after they’d tried every research tool in their toolbox to determine the detailed three-dimensional shape of retroviral protease, an enzyme in an HIV-like virus that cuts up other proteins. Determining the three-dimensional shape of an enzyme is essential to fully understand what it does in cells and to develop drugs that might block it.

To determine the three-dimensional shape of an enzyme (or any other type of protein), researchers start with its sequence of amino acids. There are 20 different kinds of amino acids that can be mixed and matched, and each protein is composed of a long, unique string of them. A protein’s amino acid sequence somehow signals a protein to fold into a unique three-dimensional shape, one it must assume to function properly inside our cells. But a single string of amino acids can fold into an almost infinite number of three-dimensional shapes, and scientists still struggle to predict a protein’s three-dimensional structure from its sequence, even with modern supercomputers.

To do that job more efficiently, Baker’s team had developed a high-powered algorithm called Rosetta that helps determine a protein’s structure by comparing it to well-understood proteins that it seems to resemble. That worked with some proteins, but not the retroviral protease. “We used all the computing power we had with Rosetta, but it wasn’t enough,” Khatib says. To boost their computing power, in 2005 they built a screensaver that ran Rosetta in the background, then found more than 40,000 ordinary computer users to run the screen saver, which shows the long string of amino acids flopping around and folding into various shapes.

Still no dice with the retroviral protease. But they did learn something. Some of the owners more familiar with biochemicals got in touch with the researchers. “People looked and said your algorithm does some really stupid things,” such as folding proteins in ways that would never work, Khatib says.

So Khatib and Baker decided to enlist people to help the algorithm do the job better. They teamed up with Seth Cooper and Zoran Popovic at the University of Washington’s Center for Game Science, which seeks to use gaming to solve problems that people and computers alone have been unable to solve. As it turns out, people are better than today’s computers at recognizing patterns and solving puzzles. So Cooper and Popovic, working with Baker and Khatib, created a video game called Foldit to tap their strengths.

Foldit players came from all walks of life, and most knew little or no biochemistry. But the researchers had designed Foldit so that players would score points when they folded the protein according to well-known laws of physics and chemistry. This meant that players didn’t need to know the science; they just had to be good at solving difficult three-dimensional puzzles. This, as one top player noted, required a “slightly addictive personality.”

More than 600 players in more than a dozen countries ultimately played Foldit, forming teams and developing strategies that they shared with their teammates. And just three weeks after the researchers turned the problem over to the gamers, they had come up with very promising structures. The researchers then turned to their computer programs, including Rosetta, and “literally three days later, it was solved,” Khatib says. Two teams, the Foldit Contenders and Foldit Void Crushers had contributed enough to solving the structure of the retroviral protease that they’re listed as coauthors of the research paper, which was published online in September in Nature Structural & Molecular Biology.

It was the first time to Khatib’s knowledge that gamers had solved a thorny problem that had stumped scientists. But it probably won’t be the last. The researchers plan to make a game to shape a drug that binds and blocks the retroviral protease and could do the same to a closely related enzyme on HIV. “That’s the really exciting next step,” Khatib says.

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To learn more, watch a video with interviews involving Foldit players and lead scientist, David Baker.  Read this article from Fast Company magazine about the many ways video games have infiltrated our lives.  You may also like these healthymagination posts: “Rapid Testing Technology Could Slow the Spread of AIDS,” “New Computer Modeling Analyzes Drug Therapies for HIV Patients,” and “Games Designed to Improve Health.”

When a heart attack occurs, seconds count and prompt attention is often the difference between life and death. Yet, while medical science has made significant advances in treating cardiac arrest—defibrillators are now available in many public buildings and doctors have emergency room anti-arrhythmic drugs available—little has been done to detect the onset of an actual attack.

Researchers at the Cleveland Clinic hope to change the situation. Led by John Rickard, MD, they’ve developed a watch-size monitor aptly dubbed the Wriskwatch. The device, which correctly signaled artificially induced pulselessness in trials, offers a non-invasive way to detect sudden cardiac arrest. The device displayed a false-positive (false alarm) rate of about 10 percent, Dr. Rickard says.

The Wriskwatch incorporates a piezoelectric disk strapped snugly against the wrist. As a result, it’s able to detect arterial swelling at the radial pulse point and identify pulselessness or ventricular fibrillation. The device uses a wireless Bluetooth connection to contact emergency response personnel or caretakers in an old age home or assisted care facility, he says. A built in motion sensor blocks the alert unless the wrist is still.

In the early-stage trial—which was reported in the online journal HeartRhythm—34 patients participated in the study and the device worked effectively on all but five. The patients wore the watch for 20-minute intervals and the research team artificially induced pulselessness by inflating a blood pressure cuff under the device. The failures were related to inadequate signals on two subjects, an inability for two others to remain still and one other had the device fall off. The sensitivity of the watch to detect pulse status (based on 15 second intervals) was 99.9 percent.

Researchers are now working on a more advanced system that will activate an alert only when the wearer is unconscious. This is designed to reduce the number of false alarms. A company, Emergency Medical Technologies, is developing the Wristwatch commercially and hopes to introduce it within the next few years.

Notes Rickard: “The Wriskwatch is a novel device that shows promise as a tool to hasten activation of emergency medical systems and facilitate early defibrillation in patients with cardiac arrest.”

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For an abstract of the Cleveland Clinic study on the Wristwatch, click to HeartRhythm. For a discussion about another heart attack detection system with implantable sensors, visit MITnews online.

Many people with high blood pressure can get it down to normal by losing weight, exercising and cutting their salt intake. If that doesn’t work, downing daily pills usually does the trick – the medication works by helping blood vessels relax. But in about 15 percent of all patients, blood pressure can remain too high despite taking three or four different medications per day.

That’s not a good situation for the hundreds of thousands of people worldwide whose stubbornly high blood pressure won’t come down. Hypertension increases the risk of heart disease and stroke, which is why doctors make such a fuss about lowering it to healthier levels.

They may soon have a new high-tech tool for use when medication doesn’t work. New research from Australia suggests that these difficult cases can be treated by zapping nerves surrounding the kidney with radio waves. These nerves affect blood pressure by boosting salt and water retention in the body and constricting blood vessels.

The nerves in question are within the wall of the renal (kidney) artery. The new method relies on a radio-wave probe that heats the artery by 10° centigrade. This has the effect of dialing down the activity of the nerve by 30 to 80 percent without injuring the artery, the investigators reported to the American Heart Association.

“We know that constriction of the arteries to the kidneys make them release hormones that can strongly increase blood pressure so this novel way of reducing the constriction of the arteries had a big effect,” said cardiologist Christopher P. Cannon, M.D., associate professor of medicine at Harvard Medical School and author of The New Heart Disease Handbook (Fair Winds Press, 2009). However, while Dr. Cannon calls the new approach “promising” and notes that “the science is strong”, he cautions that it is an experimental procedure tested so far in just a hundred patients and that larger studies will be needed before it would be approved for use in the United States.

In patients treated during the study blood pressure dropped by 32 mm HG (top number) and 12 mg HG (bottom number). At the outset, their blood pressure was 160 mg Hg even though they all were taking three or more drugs daily, the researchers reported. In a comparison group of patients who continued drug treatment, blood pressure didn’t budge.

Six months later, blood pressure remained at least 10 percent lower in 84 percent of the patients treated, and no serious side effects were reported. Team leader Murray D. Esler, MD was quoted in news reports as saying he wasn’t sure why the treatment didn’t work on all the patients but suggested that some may not have been “zapped enough.”

Although new and bigger studies are needed to confirm these findings, so far, the results of treatment appear long-lasting: blood pressure is still under control in the first patient treated when the method was tested in 2008.

If you have high blood pressure, what treatment are you using? How well is it working?

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Check your risks of high blood pressure here. Blood pressure is considered high when the top (systolic) number is above 140 millimeters of mercury (mmHG) and the bottom (diastolic) number is above 90 mmHG. Here’s some good information about lifestyle changes that can help lower high blood pressure. For more news about blood pressure, read our blog posts, “Track Your Health With Home Medical Tests,” “Chronotherapy: Medicine by the Clock,” and “In the Shadow of Disease.”

When healthy people digest a meal and sugar levels rise in their bloodstream, special cells called beta cells in their pancreas pump out insulin, which circulates through the blood to muscle, fat and liver, prompting those tissues to take up sugar. In type 2 diabetes, two fundamental processes go wrong: Beta cells can no longer produce insulin when blood sugar rises, and muscle, fat, and liver tissues stop responding properly to insulin. As a result, blood sugar rises and fluctuates more in diabetics. Over time, this can cause serious complications, such as kidney problems, heart disease, and slow-healing sores.

Worldwide, 346 million people have type 2 diabetes, and more than 3.4 million died of complications of high blood sugar in 2004—a number that could double by 2030, the World Health Organization says. So we urgently need to find new ways to prevent and treat the disease.

In 2005, researchers led by Jamey Marth, who directs the Center for Nanomedicine, a collaboration of the Sanford-Burnham Medical Research Institute and the University of California-Santa Barbara, made a key advance toward that goal. They found that when mice become obese, their bodies happen to shut down the action of a protein that transports sugar into beta cells. But was that transport protein the key link between obesity and diabetes?

To find out, they first fed a high-fat diet to normal mice and mice that had been genetically engineered so that their beta cells produced the transport protein at all times. Both types of mice became obese, and the normal mice became diabetic. But when the engineered mice became obese and ate a high-fat diet, their beta cells were still able to respond to sugar by producing insulin, the researchers reported in the August 14 issue of Nature Medicine.

Marth’s team also found that other tissues in the genetically engineered mice did not develop insulin resistance—that is, their muscle, fat and liver tissue continued to take up sugar properly in response to insulin. “When we kept the beta cells functioning, insulin resistance improved,” Marth says.

Marth envisions two ways that these findings could help prevent or treat diabetes. If human beta cells could be genetically engineered to respond to glucose no matter what, like those from the genetically engineered mice in the study, the cells could be transplanted into a patient to treat diabetes. Or, a drug that preserves the glucose transport pathway might prevent diabetes in obese people or keep it from worsening.

“This pathway allows us to define the events that are most important to hit if we want to have the best impact on the disease,” Marth says.

CONNECT THE DOTS

This fact sheet from the World Health Organization offers excellent background on type 2 diabetes as a global health problem. This backgrounder from the National Institutes of Health’s National Diabetes Information Clearinghouse offers a broad overview of the disease. Read about the Center for Nanomedicine here, and read more about Jamey Marth’s research here.

Researchers at Northeastern University have developed a virtual nurse and exercise coach that are surprisingly likable and effective—even if they’re not quite as affable as the medical hologram on Star Trek.