The study is the first to identify common genetic variants influencing stroke risk in the United States and may lead to better treatments, they reported on Wednesday.

While other stroke-related genes have been discovered, none involved such a wide portion of the population, said Eric Boerwinkle of The University of Texas Health Science Center.

“This is a first step in unraveling the genetic contributions of this debilitating disease,” said Boerwinkle, whose team was one of several contributing to the study published in the New England Journal of Medicine.

Stroke is the third-leading cause of death in the United States and causes serious long-term disabilities for many worldwide.

Boerwinkle said the teams found two genetic variants on chromosome 12 near two genes that are implicated in stroke. One, called WNK1, is associated with blood pressure control and the other, NINJ2, is linked with brain injury repair.

The two genes, next to each other, both are also strongly linked with ischemic stroke, which is the most common type of stroke and is caused by blocked blood vessels in the brain.

Boerwinkle said it is not clear which specific gene is implicated, but he said the most likely suspect is NINJ2.

They found two single-letter changes in the DNA, known as single nucleotide polymorphisms or SNPs — pronounced “snips” — near NINJ2 that seem to send the strongest stroke “signal.” One is found in about 20 percent of whites they checked and 10 percent of African-Americans.

Having just one copy of this genetic variation can raise the risk of ischemic strokes by about 30 percent, he said — although the study says it is unlikely the SNPs are the actual cause of stroke but probably associated with the actual genetic cause.

The findings come from an analysis of the genetic code of more than 19,000 people in the United States and Europe taking part in four long-term studies of cardiovascular risks.

The teams were looking for SNPs among 1,544 people who had strokes, compared with 18,058 people who did not.

Boerwinkle said more work needs to be done to sort out which genes are at play, but he said the findings should give drug companies a new target for researching better treatments.

Dr. Walter Koroshetz, deputy director of the U.S. National Institute of Neurological Disorders and Stroke, which supported the study, said the findings are not strong enough to alter a patient’s stroke prevention strategy.

But he said the results “will lead scientists to direct their attention to new, important biologic mechanisms and hopefully new treatments to prevent stroke.”

Scientists uncover genetic risks for stroke – Health Updates

Patients also showed improvements in the functioning of the insulin-producing cells that are attacked and destroyed in patients with type 1 diabetes.

Four of the 23 patients who took part in the study remained insulin free for at least three years and one patient went without insulin injections for more than four years.

The patients were the first to receive the novel stem cell transplant therapy to treat their type 1 diabetes.

After receiving transplants of their own blood stem cells, about half of the patients in the study became insulin free for an average of two and a half years.

But the treatment, which included the use of highly toxic immune-system suppressing drugs, was not without troubling side effects.

Two patients developed pneumonia while hospitalized for immunosuppression therapy, and nine developed low sperm counts as a result of exposure to one toxic drug. The latest results from the study appear in the April 15 issue of the Journal of the American Medical Association.

Diabetes specialist David M. Nathan, MD, who was not involved with the study, tells WebMD that the stem cell treatment is promising, but he adds that the side effects remain troubling.

“This is a pretty bold intervention that can involve serious complications,” he says. “The hope is that this will lead to more benign treatments that can keep people off insulin.”
Stem Cells for Diabetes

All the patients included in the stem cell study had been diagnosed with type 1 diabetes within six weeks of treatment, and all were producing some insulin on their own, although this production was greatly diminished.

Type 1 diabetes is an autoimmune disease in which the immune system attacks and destroys the insulin-producing cells within the pancreas.

The goal of the treatment was to kill the immune cells that were killing the insulin-producing cells and replace them with immature cells not programmed to disrupt insulin production.

The treatment, called autologous nonmyeloablative hematopoietic stem cell transplantation (HSCT), involved several steps.

Soon after diagnosis, the patients were given drugs to stimulate production of blood stem cells. The blood stem cells were then removed from the body and frozen.

Patients were hospitalized and given the toxic drugs that killed their circulating immune cells, and then the harvested blood stem cells were put back into the patient.

The first patient to receive the treatment did not improve, probably because he had too few functioning insulin-producing cells left.

But 20 of the next 22 patients treated with the experimental therapy were able to do without insulin injections or greatly reduce their insulin use for a few months to several years.

Patients who remained insulin-independent showed significant improvement in their ability to produce insulin two years after treatment, compared to pre-treatment production levels.

The ability to show direct improvement in insulin-producing cell function is important because critics have questioned whether the treatment really works.

Soon after being diagnosed with type 1 diabetes, many patients enter what is known as a “honeymoon” period, thought to result from improved diet and lifestyle.

It has been suggested that the early improvements seen in the patients who got the stem cell treatment was because of this lifestyle-related remission and not the treatment.

“This treatment actually stopped the autoimmune process and the remaining [insulin-producing] cells that were not destroyed worked well enough to keep many of these patients off insulin,” Nathan says.

Stem Cells Promising for Type 1 Diabetes – Health Updates

Researchers at the University of Rochester Medical Center in New York gave teriparatide (Forteo) to 145 people who had bone fractures that had not healed, many for six months or more. They found that 93 percent of them showed significant healing and pain control after eight to 12 weeks.

Teriparatide speeds the healing of fractures by changing the behavior and number of cartilage and bone stem cells involved in the healing process, the researchers found.

"The decreased healing time is significant, especially when fractures are in hard-to-heal areas like the pelvis and the spine, where you can’t easily immobilize the bone — and stop the pain," Dr. Susan V. Bukata, medical director of the university’s Center for Bone Health, said in a news release from the center.

"Typically, a pelvic fracture will take months to heal, and people are in extreme pain for the first eight to 12 weeks," she said. "This time was more than cut in half. We saw complete pain relief, callus formation and stability of the fracture in people who had fractures that up to that point had not healed."

Based on the findings, the news release said, the U.S. National Institutes of Health has funded a clinical trial of the drug’s use on fractures. The study will include men and post-menopausal women older than 50 who have what’s called a low-energy pelvic fracture and who are admitted to the emergency department of Strong Memorial Hospital in Rochester.

Participants in the study will be given either teriparatide or a placebo and will be followed for 16 weeks to measure fracture healing in a number of ways, including pain levels, microscopic bone growth determined through CT scans and functional testing of bone strength.

Teriparatide was approved by the U.S. Food and Drug Administration in 2002 as a treatment for osteoporosis.

If clinical trials prove that the drug speeds bone healing, it could prove especially important for older adults, who suffer the majority of broken bones that heal slowly.

"In many people, as they get older, their skeleton loses the ability to heal fractures and repair itself," J. Edward Puzas, head of orthopedic bone research at the medical center and the lead investigator for the clinical trial, said in the news release. "With careful application of teriparatide, we believe we’ve found a way to turn back the clock on fracture healing through a simple, in-body stem cell therapy."

Bracing and immobilization cannot be used for the approximately 60,000 Americans who suffer a pelvic fracture each year.

"It takes three to four months for a typical pelvis fracture to heal," Bukata said. "But, during those three months, patients can be in excruciating pain, because there are no medical devices or other treatments that can provide relief to the patient."

"Imagine if we can give patients a way to cut the time of their pain and immobility in half?" she said.

Speeding the healing time for pelvic fractures could also reduce the risk of death and medical costs.

Pelvic fractures carry the same risk of death as hip fractures. About "one-quarter of all older women with pelvic fractures will die from complications," Bukata said. "And during that year of recovery, a patient typically puts a greater strain on our health-care system, not to mention their pain and suffering."

Slow-Healing Bones May Get Boost From Drug – Health Updates

Apparently, brain areas can be activated by titillation of unknown and mysterious receptors in the mouth, according to a study in the latest issue of the Journal of Physiology.

These receptors are independent of ordinary taste buds, says Ed Chambers, PhD, of the University of Birmingham in England and lead author of the study.

Chambers tells WebMD by email that the "study suggests that the human mouth may have receptors sensitive to carbohydrate that are independent of the ‘sweet’ taste receptor. This supports research performed with rodents that suggests these mammals have taste receptors that are responsive to carbohydrate."

His research team mixed pseudo-sports drinks that contained either carbohydrates (glucose or maltodextrin) or a third concoction of water laced with artificial sweeteners.

Then eight endurance-trained cyclists were asked to complete a challenging workout, during which they swished with one of the three liquids for 10 seconds, spitting the drink out and not swallowing.

Those athletes who used the glucose or maltodextrin drinks to rinse their mouths did 2% to 3% better than exercisers who swished the artificially sweetened water, the “placebo” sports drink, the researchers say.

The researchers also examined the brain activity of athletes by using functional magnetic resonance imaging (fMRI) after giving them one of the three solutions.

And, they found that the glucose and maltodextrin triggered specific areas of the brain that are associated with pleasure or reward, but the artificially sweetened water did not.

"Our results suggest that any carbohydrate in the mouth could improve exercise performance," he tells WebMD. "However, this has only been demonstrated with glucose and maltodextrin and would need to be proven. We want to make clear that the study does not imply that athletes do not need to swallow energy drinks during exercise. The research has identified that as well as the well-known metabolic benefits of ingesting carbohydrate drinks during exercise there is a direct ‘central’ benefit from simply tasting these substances," Chambers tells WebMD in an email.

Sports Drinks May Give Brain a Workout – Health Updates

An independent committee monitoring the study recommended halting it after concluding that patients on Sutent stayed free of disease progression for longer than those on placebo plus best supportive care.

The patients in the study had advanced pancreatic islet cell tumors, a rare cancer with limited treatment options, according to Pfizer.

Sutent is currently approved for treating both advanced renal cell carcinoma and gastrointestinal stromal tumors.

Pfizer Cancer Drug Shows Benefits, Shares Rise

After 40 hours of hyperbaric treatment autistic children showed significant improvements in social interaction and eye contact compared with controls.

The BMC Pediatrics study could not show if the results were long-lasting but should prompt further investigation of the treatment, the US team said.

One theory is that oxygen can help reduce inflammation and improve flow of oxygen to brain tissue.

Hyperbaric treatment – effectively giving high concentrations of oxygen at increased atmospheric pressure – has been shown to have some benefit in other neurological conditions such as foetal alcohol syndrome and cerebral palsy.

Some studies have looked at the treatment in children with autism but they have not compared with a dummy procedure raising questions around a “placebo effect”.

In the latest study, carried out at six centres in the US, 62 children aged two to seven with autism were randomly assigned to receive 40 hours of treatment over a month with 24% oxygen at increased atmospheric pressure (1.3 atm) or normal air in a slightly pressurised room (1.03 atm).

Children who received the treatment showed significant improvements in overall functioning, receptive language, social interaction, eye contact, and sensory or cognitive awareness.

In all, 30% in the treatment group were rated by doctors as “very much improved” or “much improved” compared with 8% of those in the control group.

Overall, 80% in the treatment group improved compared with 38% of controls.

Behaviour

Study leader, Dr Dan Rossignol from the International Child Development Resource Centre, in Florida, said the use of hyperbaric therapy for autism has been gaining popularity in the US where parents can buy their own hyperbaric chamber if they have a spare $14-17,000.

He said the findings would be quite controversial and he too was initially very sceptical of the idea but was prompted to do more research after the treatment showed benefits for his two sons who have autism.

“We’re certainly not talking about a cure, we’re talking about improvements in behaviour, improving certain functions and quality of life.

“The next step is to try to find out which kids do respond, because it’s an expensive treatment – it may be that kids with more inflammation respond better.

“It would also be nice to know how long the treatment lasts, and the finding needs to be confirmed.”

Richard Mills, research director at Research Autism, said this was the first well-designed study looking at the therapy.

“We know this kind of therapy is useful in a number of neurological conditions and that’s been well established.

“What we don’t know is how useful it is in autism, what we could be seeing is an improvement in other neurological conditions that go alongside autism.

“We also don’t know about long-term effects – it could be a transitory effect.”

Professor Philip James, an expert in hyperbaric medicine at the University of Dundee, said the pressure used was no more than that used to pressurise an aircraft cabin on the ground.

He added that oxygen was the “controller of inflammation” but also had other effects on regulation of genes and tissue regeneration.

But even if proven, the treatment may not be for everybody.

“When you have any condition, there are people who have too much damage to get better.”

“All the oxygen is doing is bringing things towards normal.”

Oxygen therapy benefit in autism

Colds are difficult to treat and prevent because the rhinovirus that causes them takes many forms, becoming elusive targets for drugs, said Stephen Liggett, a geneticist at the University of Maryland School of Medicine’s Institute for Genome Sciences in Baltimore who led the study.

Liggett and his team sequenced all 99 known strains of the rhinovirus in a report in the journal Science that traced the evolution of the germ.

The full sets of genes, or genomes, described in the study show the viruses have a few regions that consistently appear and may be vulnerable to medications, the researchers said in Sciencexpress, the online version of the journal.

The analysis also found a potential new species of the virus for the first time.

“I’m hoping this will lead to interventions that can be fast-tracked and applied to a very practical and worthy cause,” Liggett said yesterday in a telephone interview. “All these genome sequences are in the public domain now so they can be mined by interested people.”

Colds and their complications, such as asthma attacks, cost as much as US$100 billion annually in care and lost work, Liggett said.

He became interested in tracking down the gene sequences of cold germs because of his interest in finding the connection between colds and asthma.

“It became clear that there was a missing link here,” he said. “About 50 percent of all asthma attacks are caused by rhinovirus infections. So we needed to understand more about it. Like it or not, it’s part of the equation.”

Only eight rhinovirus genomes had been sequenced when he started the study, Liggett said.

New sequencing technology from Illumina Inc, Roche Holding AG’s 454 unit, and Applied Biosystems Inc, helped speed the three-year effort.

The study showed that viruses within divisions of the rhinovirus family, such as its B group, are far more diverse than had been thought.

He also found a potential new species of rhinovirus, called HRV-D.

Liggett said he is conducting a nationwide sampling of rhinovirus infections to find more genomes and further expand the list of known rhinoviruses.

With current technology, each virus genome can be sequenced at a cost of about US$100, he said.
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Health Updates

Bertha Branch, 78, discovered the power of a system called eNeighbor when she fell to the floor of her Philadelphia apartment late one night without her emergency alert pendant and could not phone for help.

A wireless sensor under Ms. Branch’s bed detected that she had gotten up. Motion detectors in her bedroom and bathroom registered that she had not left the area in her usual pattern and relayed that information to a central monitoring system, prompting a call to her telephone to ask if she was all right. When she did not answer, that incited more calls — to a neighbor, to the building manager and finally to 911, which dispatched firefighters to break through her door. She had been on the floor less than an hour when they arrived.

Technologies like eNeighbor come with great promise of improved care at lower cost and the backing of large companies like Intel and General Electric.

But the devices, which can be expensive, remain largely unproven and are not usually covered by the government or private insurance plans. Doctors are not trained to treat patients using remote data and have no mechanism to be paid for doing so. And like all technologies, the devices — including motion sensors, pill compliance detectors and wireless devices that transmit data on blood pressure, weight, oxygen and glucose levels — may have unintended consequences, substituting electronic measurements for face-to-face contact with doctors, nurses and family members.

Ms. Branch, who has severe diabetes and heart disease, said she could not live on her own without the system, built by a Minnesota company called Healthsense.

“I lost a very close friend recently,” she said. “She was also diabetic and she fell during the night. She didn’t have the sensors. She went into a coma.”

Without the sensors, Ms. Branch said, “I would probably be dead.”

Stories like Ms. Branch’s show the potential of relatively simple devices to provide comfort and independence to an aging population that is quickly outgrowing the resources of doctors, nurses, hospitals and health care dollars available to it.

The cost for Ms. Branch’s basic system, supplied by a health care provider called New Courtland as part of a publicly financed program, is about $100 a month, far less than a nursing home, where the costs to taxpayers can exceed $200 a day. In the two years Mrs. Branch has had the system, she has fallen three times and been stuck once in the bathtub, each time unable to call for help without it.

“On an individual basis, we’ve demonstrated that they can be very effective,” said Brent Ridge, an assistant professor of geriatrics at Mount Sinai School of Medicine in New York. “But until they’re launched on a wide-scale basis, you just don’t know. Physicians might say, ‘I’m already overstretched, I don’t have time for all this data.’ ”

At a white ranch-style house in Middletown, N.J., Joseph Hayduk, 86, a retired Air Force lieutenant colonel, is greeted by a voice from a small box: “Good morning. It is now time to record your vital signs.” Mr. Hayduk has been using the device since 2006, after his second heart attack, through a program run by Meridian Health.

He stepped on a scale. “Are you experiencing more difficulty breathing today, compared to a usual day?” the voice asked. Mr. Hayduk pressed yes.

“That’s normal for me,” he said.

“Are your ankles more swollen than usual?” the machine asked. In patients with chronic heart failure, swelling or weight gain can indicate that they are retaining fluid. Mr. Hayduk pressed no. After a blood pressure reading, the device signaled that it had relayed the information to Meridian Health.

There, a nurse calls all 18 patients in the program daily, starting with the ones whose data call for urgent attention. One morning, Mr. Hayduk left the house before the nurse’s call. As he sat on his neighbor’s porch, he watched a police car pull up to his house to check on him.

Mr. Hayduk chuckled at the memory, but said that the system had allowed him to stay in his home of 37 years.

“This system’s invaluable to me, not only physically, but psychologically,” he said. “I don’t want to be in assisted living. That’s for people in wheelchairs and walkers.”

Philip Marshall, 85, another Meridian Health patient, uses a system tied to his cellphone to help him remember his medications. Mr. Marshall has high blood pressure and macular degeneration, and takes 10 pills a day. He cannot see a clock or work the buttons on most phones, so he uses a Jitterbug, a phone with big buttons and limited functions.

Drug compliance is one of the biggest problems for the elderly, especially those with memory loss. Until Mr. Marshall got Meridian’s Jitterbug system, his daughter Melanie, 55, said she had to leave work several times a month to help him with his drugs. “I’m answering the phone in meetings,” she said. “He’d forget whether he took a pill or whether he was supposed to take a pill.”

The system, which costs $20 a month, calls him after he is scheduled to take a pill and asks if he has taken it; if not, it asks him why not and sends automated alerts to his daughters.

“I worry a lot,” Mr. Marshall said. “All my life. So this gives me peace of mind.”

He added that knowing that a call was coming had helped him remember to take his medications before the phone rang.

This is the ultimate goal of personal health monitoring — that people who know they are being watched may modify their behavior to better their health. Jeffrey Kaye, director of the aging and Alzheimer’s and memory assessment clinics at Oregon Health and Science University, said one of the most useful health technologies was a cheap pedometer, because carrying one motivated people to walk more.

But Stuti Dang, who directs dementia care for the Miami Veterans Affairs Healthcare System and uses monitoring systems to track the vital signs of 400 patients, said one unforeseen consequence of the system was that “it somehow absolves their kin of the responsibility.”

“The daughter doesn’t have to call every day because she knows if something was wrong with her father, she would receive an alert,” Dr. Dang said, adding: “It’s good for the patient, but there needs to be personal responsibility. As a provider, I don’t want to be responsible for my patient 24 hours a day.”

Raymond Carroll, 59, a retired school administrator, said he went online every day to check on his mother, Viola Carroll, 85, who lives in a building in Queens run by Selfhelp, a nonprofit organization that assists Holocaust survivors. Mr. Carroll checks the temperature of her apartment and calls if it is too hot. Since a system of motion detectors called Quiet Care was installed three years ago, on a grant from Selfhelp, he said he probably called more often but visited less.

Marvin Joss, whose mother, Ray, 89, is also in a Selfhelp building, said the system had helped improve their conversations. “In the past, I tried to spend more time on, ‘How are you feeling?’ ” Mr. Joss said. “I still ask those questions, but now it’s more to an idea of having a conversation, not trying to listen for clues about whether she’s O.K. ”

The future of these technologies, and the terabytes they gather, can involve unprecedented information about the whereabouts and well-being of older people. In a program with Intel, Dr. Kaye is combing motion data for patterns that indicate the onset of dementia, years before the decline shows up on cognitive tests.

But until there is more research — and reimbursement — the technologies’ ultimate impact remains unknown.

“It’s not that we need new technologies,” Dr. Kaye said. “We need to use what we have more creatively. It’s all cool — but is it going to be helpful?”

Sensors Help Keep the Elderly Safe, and at Home

The 42-year-old American living in Germany received the transplant to treat his leukemia, not the HIV itself.

But, it appears the transplant has wiped out the deadly disease.

“The patient is fine,” said Dr. Gero Hutter of Charite Universitatsmedizin Berlin in Germany. “Today, two years after his transplantation, he is still without any signs of HIV disease and without antiretroviral medication.”

The gene mutation is known as CCR5 delta32 and is found in 1 percent to 3 percent of white populations of European descent.

News of the case was first reported in November.

Health Updates