Early heart disease ran in Rick Del Sontro’s family, and every time he went for a run, he was scared his heart would betray him. So he did all he could to improve his odds. He kept himself lean, stayed away from red meat, spurned cigarettes and exercised intensely, even completing an Ironman Triathlon.

“I had bought the dream: if you just do the right things and eat the right things, you will be O.K.,” said Mr. Del Sontro, whose cholesterol and blood pressure are reassuringly low.

But after his sister, just 47 years old, found out she had advanced heart disease, Mr. Del Sontro, then 43, and the president of Zippy Shell, a self-storage company, went to a cardiologist.

An X-ray of his arteries revealed the truth. Like his grandfather, his mother, his four brothers and two sisters, he had heart disease. (One brother, Michael, has not received a diagnosis of the disease.)

Now he and his extended family have joined an extraordinary federal research project that is using genetic sequencing to find factors that increase the risk of heart disease beyond the usual suspects — high cholesterol, high blood pressure, smoking and diabetes.

The aim is to see if genetics can explain why heart disease strikes apparently healthy people. The hope is that a family like Mr. Del Sontro’s could be a Rosetta stone for heart disease — that their arteries’ profound but mysterious propensity to clog could reveal forces that do the same in millions of others.

“We don’t know yet how many pathways there are to heart disease,” said Dr. Leslie Biesecker, who directs the study Mr. Del Sontro joined. “That’s the power of genetics. To try and dissect that.”

Researchers have long known that a family history of early death from heart disease doubles a person’s risk independently of any other factors. Family history is defined as having a father or a brother who were given a diagnosis of heart disease before age 55 or a mother or sister before age 65.

Scientists are studying the genetic makeup of each member of the Del Sontro family, searching for telltale mutations or aberrations in the long sequence of three billion chemicals that make up human DNA.

Until very recently, such a project almost certainly would have been futile. Picking through DNA for tiny aberrations was so costly and time-consuming that it was impractical to take on for an entire family.

Analyzing the deluge of data would have been overwhelming. But costs have plunged, and data analysis has advanced.

“With the right family, you may need only one family,” said Dr. Robert C. Green of Harvard Medical School who studies genetics and medicine and is not involved in the study.

Beyond Risk Factors

Control of cardiovascular disease is one of medicine’s great success stories. Over the past 45 years, heart disease death rates have steadily dropped 60 percent from their peak in the 1960s.

But doctors still rely mostly on risk factors discovered decades ago — cholesterol levels, blood pressure, diabetes, smoking, obesity and a sedentary lifestyle.

“Risk factors are part of the canon now in medicine,” said Dr. Gary H. Gibbons, the director of the National Heart, Lung and Blood Institute. “We use them every day. Still, people arrive at the hospital every day with heart attacks.”

And heart disease is still the leading killer of men and women. Each year, nearly 600,000 people in the United States die of heart disease. Though the average age for a first heart attack has steadily risen — it is now 66 for men, and 70 for women — many die much younger. And many had no obvious risk factors. What, researchers ask, are they missing?

The old method of inquiry into heart disease was to start with basic laboratory research, test a hypothesis in animals, develop a drug and then test it in humans. That approach led to some expensive failures. Researchers now want to use human genetics.

“We need to understand disease biology in humans,” said Dr. Elias Zerhouni, a former director of the National Institutes of Health and now president for global research and development at Sanofi. “The tools are here.”

But the greatest challenge is to figure out how to prevent heart disease in the first place. And that is where the Del Sontro family comes in.

A Family’s Grim Secret

Mr. Del Sontro had been more or less in denial about his family’s heart disease problem until one of his sisters, Robin Ashwood, found out she had it. One Saturday morning about six years ago, she was running on a treadmill when her arms began to feel sore, as if she had done a tough workout with weights. She ended her workout, and the pain went away.

But it came back later that day while she was shopping with her younger sister, Tina Del Sontro. Ms. Del Sontro pressed her sister to go to an emergency room, asking “Do you really want to die on the floor of Sam’s Club?”

The family history of heart disease is dire. Their grandfather had a severe heart attack when he was 35. Their mother started having severe chest pains at 55. And toward the end of their mother’s life, she “was popping nitroglycerin pills like Tic Tacs,” Mr. Del Sontro said. She had open-heart surgery three times and died on the operating table at 69.

So Ms. Ashwood went to a nearby emergency room. Doctors took her blood pressure. It was elevated, she says, and she was terrified. They did an electrocardiogram. It was normal. They told her she was fine.

But she recalled that her mother’s electrocardiogram had been fine, too, and she died of the disease.

She called her cardiologist the next day. “But he blew me off,” she said. “He told me it was probably a stomach problem.”

Still fearful, she cold-called cardiologists, offering to pay for a consultation if a doctor would just look at her medical record and family history.

Dr. Leslie R. Fleischer in Pensacola, Fla., where Ms. Ashwood was living at the time, took her on. He threaded a catheter through a blood vessel from her groin to her heart and shot dye into the coronary arteries to make them visible on X-rays. He saw extensive heart disease. One coronary artery was almost completely blocked, and the others were partly blocked.

“I have been doing this for 40 years,” Dr. Fleischer said. “So I am not surprised. I am just sad.”

He inserted a stent — a small wire cage — into an artery that was 90 percent blocked. And he warned Ms. Ashwood that all her siblings should get tested.

Tina Del Sontro went first. She was 38, but tests showed she had heart disease, too. Her doctor told her a heart attack was in her future, saying, she recalls, “It’s not if it is going to happen — it’s when.”

So Rick went to a general practitioner who told him he had nothing to worry about.

Then his brother Peter, 37 at the time, saw a cardiologist and days later, had emergency double bypass surgery.

Shaken, Rick decided he, too, should see a cardiologist. Dr. Edward Bodurian in Chevy Chase, Md., first suggested a heart scan to look for calcification in his arteries — a sign of blockages. The scan showed potential problems, so Dr. Bodurian performed the same catherization test that had detected Ms. Ashwood’s disease. It revealed the grim news about his blocked arteries.

Most people who have this test can leave the hospital quickly. Doctors insert a plug in the hole in the groin where the catheter is inserted to stop the bleeding. But Mr. Del Sontro had so little body fat that a plug would not stay in place. So he had to lie flat on his back for hours in Suburban Hospital, which happened to be across the street from the National Institutes of Health.

While Mr. Del Sontro was lying there, someone came by — he never got the person’s name — and told him there was a study starting at the National Institutes of Health that “you might find relevant.” It was the one Dr. Biesecker was directing to find new causes of heart disease.

This serendipitous encounter led to his family’s participation in the study.

Seeking the Mutation

Dr. Biesecker’s project had a specific goal: to recruit 1,000 people, a quarter with no heart disease and a quarter each with mild, moderate and severe forms of the disease. The hope was that by comparing the genes of people with varying degrees of severity, the researchers might discover genetic alterations that would reveal why heart disease occurs.

They made some interesting observations about gene mutations that were already known to cause heart diseases, but the Del Sontros offered the possibility of discovering an entirely new genetic pathway to heart disease. Now, eight family members have joined the study, and Dr. Biesecker is searching for more.

Even so, finding the tiny, troublemaking genetic glitches in the family’s genes is an intimidating task. There are 30,000 genes in each person’s DNA, and each gene is can be made up of a string of hundreds of DNA letters and can harbor variations.

Most of the variations are meaningless. In the entire DNA — which contains genes and regions that control genes — there are six billion DNA letters to check. To figure out what DNA changes might be important, the researchers are comparing the DNA sequences of Rick Del Sontro and his family with those of others in the study, looking for genetic changes that occur in every member of the Del Sontro family who has heart disease but that are not generally found in healthy people.

Dr. Biesecker acknowledged that there was no guarantee of success. He and his colleagues know the gene mutation in the Del Sontro family must be rare. Otherwise, lots of people would have early heart disease but no obvious risk factors. To keep the focus on truly rare mutations, the researchers are excluding those that are present in both members of the Del Sontro family and 3 percent or more of the other study participants. That strategy alone, Dr. Biesecker said, has eliminated the vast majority of candidate genes.

The researchers are now searching for culprits among genes that remain — a search that could take years. Or the change might be in a poorly understood region of DNA that controls genes rather than in a gene itself. Researchers’ ignorance of these control regions and what many of them do might doom the effort. So the researchers are hoping the Del Sontro family’s heart disease is caused by a mutated gene.

“Our main job is to find the gene,” Dr. Biesecker said.

Still, Mr. Del Sontro is preparing for the worst. He has life insurance and long-term care insurance.

“I keep waiting for the day when I have shortness of breath,” he said.

When his heart disease was first diagnosed four and a half years ago, Mr. Del Sontro, now 50, told his cardiologist he wanted to run one more Bay to Breakers race, a century-old 12-kilometer race in San Francisco. His doctor told him absolutely not, saying, “You are the kind of guy we will read about who dies during the race of a massive heart attack.” Mr. Del Sontro could still exercise, his cardiologist said, but no more than 45 minutes a day.

Mr. Del Sontro is all too aware that the cause of his heart disease is a mystery, but he worries that if he fails to eat right and exercise he might make his illness even worse.

So he left for the gym before dawn on a recent chilly morning. He lifted weights, using dumbbells and bars, moving quickly from exercise to exercise. Forty-five minutes later, sweating, he was done.

His disease casts a dark shadow, not just on him, but on his entire family. At dinner one recent evening at their yellow brick townhouse in the Georgetown neighborhood in Washington, his wife, Pura, admitted to worrying, but said, “We don’t talk about it a lot.” She served Indian takeout — saffron rice, tandoori chicken, eggplant. Tall, slender and elegant in skinny jeans and a long beige sweater, she ate sparingly and drank a Coke Zero. Mr. Del Sontro drank only water and took small portions.

Their 9-year-old daughter, Siena, said she was afraid she had inherited her father’s heart problems. He reassured her that scientists would surely have found a treatment by the time she grew up. “I hope it doesn’t hurt,” she told him.

Her shy 6-year-old brother, Nico, slipped away from the dinner table.

There are still many questions regarding the pacemaker, produced by Nanostim Inc. It’s only been implanted in a few dozen people who were studied for a matter of months, limiting information about its long-term use and safety. It’s also not clear when the pacemaker may be publicly available, and its cost is unknown. And the existing version of the device won’t work for most pacemaker patients because it lacks some key features.

Still, a new company-funded study shows that “this is now a possibility” that could reduce infections and the severity of pacemaker surgery, said study author Dr. Vivek Reddy, director of the Cardiac Arrhythmia Service at Mount Sinai Hospital in New York City. “This is going to be the future,” he said.

Pacemakers zap the heart with low levels of electricity when the heartbeat becomes too fast, too slow or too irregular. Some are combined with defibrillators, which give the heart a major jolt when needed.

Currently, pacemakers include two components: a battery-powered generator that produces the electrical “prompts” that the wires deliver to the heart when needed, Reddy said. These wires can break or become infected, he explained, making the idea of a wire-free pacemaker appealing.

The new pacemaker is about the size of a AAA battery and provides jolts to one chamber of the heart, Reddy said. Most people with pacemakers require jolts to both chambers, so the pacemaker in its current form wouldn’t work for them.

In the new study, researchers implanted the pacemaker in 32 people for the first time through a puncture in the skin; in 10 patients, they had to reposition it. The researchers reported positive results at up to three months. However, one patient died of a stroke while convalescing after suffering a heart injury during implantation and another had the pacemaker replaced with a defibrillator.

Why get a wire-free pacemaker? “For patients with heart problems, this could potentially mean fewer infections related to leads and less discomfort during the implant procedure,” Reddy said. And children who get pacemakers wouldn’t face chest scarring, he added.

Dr. Saman Nazarian, a cardiologist and assistant professor of medicine at Johns Hopkins Hospital, said the findings are promising and “the new technology has enormous potential.” He expects the pacemaker “will likely be utilized for some select patients” after more testing.

Still, he said, the new device will probably be more expensive than other pacemakers, and may pose special risks of its own.

Dr. Harish Doppalapudi, an assistant professor of medicine at the University of Alabama at Birmingham, added that there are unanswered questions regarding replacement of the new pacemakers.

“When the battery of the implanted leadless pacemaker is exhausted, a new implant is necessary, with all the potential risks associated with this,” Doppalapudi said. “It is not known if it will be feasible to safely retrieve the old device. If the old device is left in place, it is not known what the long-term effects of this will be.”

Study author Reddy has received grant funding from Nanostim, and works for the company as a consultant. He also has received stock options from the company.

The study was to be presented Wednesday at the Heart Rhythm Society annual meeting in Denver. Findings presented at medical meetings are typically considered preliminary until published in a peer-reviewed journal.

More information

For more about pacemakers, visit the U.S. National Library of Medicine.

SOURCES: Vivek Reddy, M.D., director, Cardiac Arrhythmia Service, Mount Sinai Hospital, New York City; Harish Doppalapudi, M.D., assistant professor, medicine, University of Alabama at Birmingham; Saman Nazarian, M.D., Ph.D., cardiologist and assistant professor, medicine, The Johns Hopkins School of Medicine, Baltimore; May 8, 2013, presentation, Heart Rhythm Society annual meeting, Denver

The new test, which goes on sale Wednesday, joins another one that recently came on the market. Both analyze multiple genes in a biopsy sample and give a score for aggressiveness, similar to tests used now for certain breast and colon cancers.

Doctors say tests like these have the potential to curb a major problem in cancer care — overtreatment. Prostate tumors usually grow so slowly they will never threaten a man’s life, but some prove fatal and there is no reliable way now to tell which ones will. Treatment with surgery, radiation or hormone blockers isn’t needed in most cases and can cause impotence or incontinence, yet most men are afraid to skip it.

“We’re not giving patients enough information to make their decision,” said Dr. Peter Carroll, chairman of urology at the University of California, San Francisco. “You can shop for a toaster” better than for prostate treatment, he said.

A study he led of the newest test — the Oncotype DX Genomic Prostate Score — is set for discussion Wednesday at an American Urological Association meeting in San Diego.

The results suggest the test could triple the number of men thought to be at such low risk for aggressive disease that monitoring is a clearly safe option. Conversely, the test also suggested some tumors were more aggressive than doctors had believed.

Independent experts say such a test is desperately needed but that it’s unclear how much information this one adds or whether it will be enough to persuade men with low-risk tumors to forgo treatment, and treat it only if it gets worse. Only 10 percent who are candidates for monitoring choose it now.

“The question is, what’s the magnitude of difference that would change the patient’s mind?” said Dr. Bruce Roth, a cancer specialist at Washington University in St. Louis.

One man may view a 15 percent chance that his tumor is aggressive as low risk “but someone else might say, ‘Oh my God, let’s set the surgery up tomorrow,’” he said. “I don’t think it’s a slam dunk.”

Also unknown: Will insurers pay for the expensive test without evidence it leads to better care or saves lives?

The newest test was developed by Genomic Health Inc., which has sold a similar one for breast cancer since 2004. Doctors at first were leery of it until studies in more groups of women proved its value, and the same may happen with the prostate test, said Dr. Len Lichtenfeld, the American Cancer Society’s deputy chief medical officer.

The company will charge $3,820 for the prostate test and says it can save money by avoiding costlier, unnecessary treatment. Another test for assessing prostate cancer risk that came out last summer — Prolaris by Myriad Genetics Inc. — sells for $3,400.

Both companies can sell the tests without Food and Drug Administration approval under separate rules that govern lab diagnostics. Myriad Genetics has published nine studies on Prolaris involving more than 3,000 patients. Genomic Health has not published any results on the prostate test, another thing that makes doctors wary. Yet it has a track record from its breast cancer test.

About 240,000 men in the U.S. are diagnosed with prostate cancer each year, and about half are classified as low risk using current methods. Doctors now base risk estimates on factors such as a man’s age and how aggressive cells look from biopsies that give 12 to 14 tissue samples. But tumors often are spread out and vary from one spot to the other.

“Unless you can be sure your biopsy has hit the most aggressive part that’s in the prostate, you can’t be sure” how accurate your risk estimate is, explained Dr. Eric Klein, chief of urology at the Cleveland Clinic, who led early development of the Oncotype prostate cancer test.

For one study, researchers used prostates removed from 440 men. They measured the activity of hundreds of genes thought to be involved in whether the cancer spread beyond the prostate or proved fatal. A second study of biopsies from 167 patients narrowed it down to 81 genes, and researchers picked 17 that seemed to predict aggressiveness no matter the location in the tumor.

A third study used single needle-biopsy samples from 395 UCSF patients scheduled to have their prostates removed. The gene test accurately predicted the aggressiveness of their cancer once doctors were able to see the whole prostate after surgery.

Using one current method, 37 of the 395 men would have been called very low risk and good candidates for monitoring. Adding the gene test put 100 men into that category, said another study leader, Dr. Matthew Cooperberg of UCSF. The gene test shifted about half of the men into either a lower or a higher risk category.

“It went both ways — that was the remarkable thing. In any category of risk it added independent information compared to the standard criteria we use today,” Carroll said. “More work needs to be done, but, in my opinion, this is a very good start.”

However, Dr. Kevin McVary, chairman of urology at Southern Illinois University School of Medicine and a spokesman for the Urological Association, said the test must be validated in more men before it can be widely used.

“It’s not there yet,” he said.

UCSF just got a federal grant to see how men choose treatments and whether this test might sway them.

“We throw all these numbers at them. Are they really going to make a better decision?” Cooperberg said.

Dean Smith, 60, a retired marketing executive from Mill Valley, Calif., is following his doctor’s advice to monitor the cancer he was diagnosed with in March. He said a gene test may have made him more comfortable with that decision.

At least six of his friends suffered side effects ranging from urinary leakage to inability to have sex after having their prostates removed.

“I would suspect that having cancer and having to live with it would be very difficult for them,” but it doesn’t bother him, Smith said. “I will die from something other than prostate cancer, I guarantee you.”

Copyright 2012 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

THURSDAY, May 2 (HealthDay News) — An implanted device that monitors brain activity may offer a way to predict seizures in people with uncontrolled epilepsy, a small pilot study suggests.

The findings, reported online May 2 in the journal Lancet Neurology, are based on only 15 patients, and the device worked far better in some than others. But experts said the results are promising, and should prompt further studies.

“We just wanted to see if this is feasible, and this study shows that it is,” said lead researcher Dr. Mark Cook, of the University of Melbourne and St. Vincent’s Hospital in Australia.

The prospect of being able to predict seizures is “very exciting,” he said, in part because it’s the uncertainty of the disorder that can dim people’s quality of life.

If people know a seizure is coming, Cook said, they can avoid driving or swimming that day, for example. They might also be able to adjust their medication use.

Epilepsy is a neurological disorder in which the brain’s normal electrical activity is temporarily disrupted, leading to a seizure. Seizures can be obvious, causing unconsciousness or convulsions, but often they trigger subtler changes in a person’s perceptions or behavior — like a short staring spell, confusion or an altered sense of taste or smell.

Epilepsy is usually managed with medication, but for 30 percent to 40 percent of people with the condition, drugs don’t keep seizures at bay. The new study included 15 people who were having at least two to 12 “disabling” seizures a month that were resistant to drug therapy.

Cook’s team implanted each patient with the experimental device, which consists of electrodes placed between the skull and the brain, plus wires that run to a unit implanted under the skin of the chest.

That unit wirelessly sends data to a hand-held device that flashes a red warning light if there is a “high likelihood” of an impending seizure. (A white light signals a “moderate” likelihood, while a blue light means the odds are low.)

For the first four months, the devices collected data on patients’ seizures without actually flashing warnings. For 11 of the 15 patients, the implants seemed capable of correctly predicting a high risk of seizure at least 65 percent of the time. Those patients went on to the next four-month phase, where the devices were activated to give warnings.

Over those four months, the implants worked fairly well for eight patients — correctly giving the high-risk warning anywhere from 56 percent to 100 percent of the time.

There are plenty of questions left, said Dr. Ashesh Mehta, director of epilepsy surgery at the North Shore-LIJ Comprehensive Epilepsy Care Center in Great Neck, N.Y.

“This study is an important first step,” said Mehta, who was not involved in the research. “The next step would be to implant these in a larger sample of patients. And you need to see which groups of patients might be good candidates for this.”

Mehta said someone who has seizures only once in a while might not get enough benefit to outweigh the downsides of false alarms, for example. And someone who has many seizures each month might get little added information from the warning system, he said.

It may be the people who fall in the middle — who have disabling seizures at unpredictable intervals — who would stand to benefit the most, he said.

But any benefits need to be weighed against the risks. Besides false alarms and unnecessary anxiety, the implant itself can cause problems. In this study, three patients had serious complications, including one with an infection and one whose chest device moved and caused her pain. Two patients ultimately had the implants removed.

Still, Mehta agreed that the technology could prove helpful to some people with epilepsy. If they know a seizure is coming, they might take an extra dose of their medication, for example.

An implanted device like this could also give patients and their doctors more information about their epilepsy, he added. In this study, the implants revealed that most patients were suffering more seizures than they thought; one patient who reported 11 a month was actually having more than 100.

In real life, Mehta said, it can be hard to know if you’re feeling bad because of side effects from epilepsy medication or because you’re having a lot of seizures. A device like this could help sort that out.

But what’s still needed is evidence that this device does improve the quality of patients’ lives, Mehta said.

The study was funded by NeuroVista, the Seattle-based company developing the technology. Several of Cook’s co-researchers work for the company.

More information

Learn more about epilepsy from the Epilepsy Foundation.

SOURCES: Mark Cook, M.D., professor, neurology, University of Melbourne, St. Vincent’s Hospital, Melbourne, Australia; Ashesh Mehta, M.D., Ph.D., director, epilepsy surgery, North Shore-LIJ Comprehensive Epilepsy Care Center, Great Neck, N.Y.; May 2, 2013, Lancet Neurology, online

Last Updated: May 02, 2013

A breakthrough in helping the body to produce more insulin could make tedious injections of the hormone history.

In type 2 diabetes, the body gradually loses its ability to make enough insulin to keep up with the sugar coming in from the diet. Eventually, the overwhelmed system leaves these sugars, in the form of glucose, to build up in the blood, which can lead to obesity, damage the heart, and cause other metabolic problems.

And while insulin injections are an effective way to break down the glucose, keeping track of blood sugar levels with regular finger pricks and repeated insulin shots aren’t an ideal way to treat a chronic disease. But despite decades of research, scientists haven’t found a better way to address the problem.

Now, researchers working with mice at the Harvard Stem Cell Institute report in the journal Cell that they have discovered a hormone, betatrophin, that can prompt the body to generate more insulin-producing beta cells and, if the work is confirmed, the hormone could potentially do away with the need for regular insulin shots.

“We don’t understand the cause of type 2 diabetes, but everyone agrees that having more beta cells is better,” says Douglas Melton, senior author of the paper and co-director of the Harvard Stem Cell Institute. “No one doubts that’s not a good idea.”

It’s an exciting breakthrough in diabetes research, which for many years was focused on finding ways to externally supplement the body’s waning insulin levels. That’s because experts believed that once the pancreatic islet cells, the body’s insulin-making factories, were compromised, they couldn’t be made to work again. What’s more, they also surmised that only a specialized set of beta cells were equipped to make insulin, and that once diabetes set in, too few of these cells remained to pump out the critical hormone.

Melton, however, whose work focuses on understanding how stem cells might enhance beta cell production, admits that he is “obsessed” with the insulin-making cells, and reported in 2007 that all beta cells appeared to have the ability to produce insulin. His pursuit of a better understanding of this population, and the forces that cause them to falter in diabetes, led his team to the discovery of betatrophin.

In animal studies, mice that were treated with another compound that compromised their ability to respond to insulin suddenly revved up production of more beta cells to compensate, and Melton’s team was able to isolate the hormone responsible – betatrophin. Over the course of a few weeks, mice bred to develop diabetes but injected with betatrophin were increased their beta cell population by 17 times. “I was impressed by the fact that the number of beta cells in the mice doubled in one week with one injection,” says Melton. “That’s a huge difference.”

What’s more, it appears the cells are relatively long-lasting, which could indicate they are robust enough to bring glucose levels in diabetics under control.

In theory, if the same results occur in people, it’s possible that those on the verge of developing diabetes might never progress to develop the disease, since the high blood sugar levels that can cause damage to tissues and lead the body to become less responsive to insulin could be avoided. It’s also possible that diabetics could lower their dependence on insulin and might even be able to wean themselves off of the injection altogether if their beta cell production is robust enough to provide the insulin they need.

“Even if it doesn’t address insulin resistance, what [betatrophin] will do is lower blood sugar, and anything that lowers blood sugar can make you healthier,” he says.

More work will be needed to confirm what benefit betatrophin might have on diabetic patients before that might be possible, however. John Anderson, president of medicine and science for the American Diabetes Association, says “It’s very promising and opens up new avenues of research, but we are a long way from replacing insulin, or a cure, or even knowing how this [hormone] will work in human tissue.”

Those concerns aren’t lost on Melton, who also recognizes that more research is needed to confirm that betatrophin may benefit patients. “I am aware of the fact that given our level of ignorance, everything seems simple and straightforward,” he says. “But I am prepared to have it become more complicated.”

Read more: http://healthland.time.com/2013/04/29/newly-discovered-hormone-could-yield-new-treatment-for-diabetes/#ixzz2RrKt9wLX

MONDAY, April 15 (HealthDay News) — Adding computer-aided detection to mammograms finds more early, noninvasive cancers and helps detect invasive cancers at earlier stages, according to a large new study. But the jury’s still out as to how worthwhile the extra technology is overall.

For one thing, computer-aided detection (CAD) increases the amount of diagnostic testing among women who turn out not to have breast cancer. And the technology makes mammograms more expensive.

CAD is becoming more widespread, said Dr. Joshua Fenton, an associate professor of family and community medicine at the University of California, Davis, and lead study author. “It’s an add-on and now is used in probably three-quarters of U.S. mammograms,” he said.

Computer-aided detection systems use a digitized mammogram image from either a traditional film mammogram or a digitally acquired mammogram, according to the American College of Radiology. The CAD software looks for areas that may indicate cancer so the radiologist can then look more closely at the mammogram.

Although it has rapidly become part of mammogram screening, Fenton said there is limited and conflicting research on its effect.

Under Medicare payment rates, doctors get an additional $11 for adding computer-aided detection to a mammogram, said Fenton, citing Medicare data. The Medicare rate for a film mammogram is $81 while a digital mammogram is $139.

His team evaluated more than 409,000 mammograms — with and without computer-aided detection — from more than 163,000 women aged 67 to 89. The study is published in the April 16 issue of the Annals of Internal Medicine.

Fenton took data from a large U.S. epidemiology database from 2001 to 2006. During that time, computer-aided detection use increased from 3.6 percent to 60.5 percent. Now, with about 75 percent of mammograms adding it, it is even more common, Fenton said.

“In our study, we assessed its impact in the Medicare program,” he said. The researchers compared the results when mammograms included CAD to when they did not.

When computer-aided detection was used, doctors found a greater number of early cancers known as ductal carcinoma in situ, or DCIS. “But the [overall] rate of invasive breast cancer diagnosis was no different with or without CAD,” Fenton said.

However, among the women who did have invasive cancer, computer-aided detection was linked with a greater likelihood of finding the cancer while it was stage 1 or 2 compared to stage 3 or 4, they found.

“CAD was also associated with increased diagnostic testing among women who turned out not to have breast cancer,” he said. These women, because breast cancer was suspected, had to be called back for additional tests, such as repeat mammograms or biopsies.

So is the new computer technology worth it? “Our study doesn’t answer that question; it raises that question,” Fenton said. The findings, he said, are a mix of potential good news and not so good. The additional tests that turn out to be unnecessary, because no cancer is found, are not desirable, he said.

Some of the very early cancers diagnosed in older women, he noted, may not have caused them a problem during their lifetime. But doctors can’t say with certainty which ones will progress and which ones will not.

“Women should recognize that CAD comes with some potential risks,” Fenton said. “It has the potential risk of a false-positive mammogram. If you are an older woman, [there is] the risk of overtreatment of noninvasive lesions.”

Dr. Daniel Kopans, a professor of radiology at Harvard Medical School and senior radiologist in the breast imaging division at Massachusetts General Hospital, said the study provides additional information to doctors and women, but has some limitations. He was not involved with the study.

“The good news is the use of CAD was related to finding invasive cancers at smaller sizes and earlier stages than before the CAD era,” said Kopans, also a member of the American College of Radiology’s Breast Imaging Commission. “There should be no argument that finding invasive cancers at a smaller size and earlier stage is beneficial,” he said, as they are more likely to be cured.

While he calls finding more DCIS with computer-aided detection also ”likely a good thing,” he acknowledged the debate about the possibility that a very early cancer in an elderly woman may not cause a problem in her lifetime. Although the treatment of DCIS is debated among experts, Kopans said, “In my mind, it is always worth it to find additional cancers.”

One limitation of the study, he said, is that the researchers cannot say for sure it was the computer-aided detection that made the difference. Other factors could have played a role, such as the radiologists becoming more experienced, he said.

More information

To learn more about mammography, visit the American College of Radiology/Radiological Society of North America.

SOURCES: Joshua Fenton, M.D., M.P.H., associate professor of family and community medicine, University of California, Davis; Daniel Kopans, M.D., professor of radiology, Harvard Medical School, senior radiologist, breast imaging division, Massachusetts General Hospital, and member, American College of Radiology Breast Imaging Commission; April 16, 2013, Annals of Internal Medicine

Last Updated: April 15, 2013

(Reuters Health) – Doctors can use a patient’s abdominal CT scans to also check for signs of the bone-weakening disease osteoporosis, according to a new study.

The researchers, who published their findings in the Annals of Internal Medicine on Monday, compared patients’ CT scans to their dual-energy X-ray absorptiometry (DXA), which is traditionally used to diagnose osteoporosis.

“What we found is that there is pretty good correlation,” said the study’s lead author Dr. Perry Pickhardt, professor of radiology at the University of Wisconsin School of Medicine and Public Health in Madison.

The idea, say the researchers, is doctors can use patients’ CT scans that are ordered for another reason – such as looking for tumors – to also check for signs of osteoporosis. That may spare the patients from additional testing and additional costs.

In an editorial accompanying the study, however, experts wrote that using CT scans to gauge bone density could lead to some people being incorrectly diagnosed, particularly if people at low risk are tested.

In this study, the average age was about 59 years old – six years younger than the age at which the U.S. Preventive Services Task Force, a government-backed panel, recommends all women begin being screened for osteoporosis. The disease affects over 12 million Americans over 50.

The panel also suggests younger women at an increased risk for bone fractures should be screened, but there’s no recommendation for men of any age.

Despite DXA scans being safe and cost effective, Pickhardt and his colleagues say the test is underused. CT scans, however, are considered overused – with more than 80 million performed in the U.S. during 2011.

‘INCIDENTALOPOROSIS?’

For the new study, the researchers analyzed test results from 1,867 patients, who had both types of scans performed within six months of each other over a 10-year period, to see if their CT scans showed osteoporosis as well as the DXAs.

Overall, about 23 percent of the people were diagnosed with osteoporosis, about 45 percent were diagnosed with some bone-weakening and about 32 percent were healthy based on their DXAs.

The researchers then found that their ability to accurately diagnose those same patients with osteoporosis from a CT scan depended on what threshold for bone density they used.

Dr. Sumit Majumdar, who wrote an editorial accompanying the new study, said a lower threshold for bone density would catch most cases of osteoporosis and limit “incidentaloporosis” – incorrect osteoporosis diagnoses “discovered” while doctors were looking for something else.

At the lower threshold, the researchers found 9 percent of those diagnosed with osteoporosis were misdiagnosed.

Pickhardt said the screenings would have to target the right groups of people to prevent overdiagnosis.

“Obviously it’s something we need to worry about, but if you apply it to a population that’s suitable for diagnosis you wouldn’t run that risk,” he said.

CT v. DXA

Majumdar, a professor of medicine at the University of Alberta in Canada, said CT scans are better tests, but stomach scans don’t include the hip – like a DXA would.

A DXA can cost a couple hundred dollars, while a CT scan can cost about $500. Both involve radiation.

Dr. Beatrice Hull, from the Center for Osteoporosis and Bone Health at the Medical University of South Carolina in Charleston, told Reuters Health that she’d want her patients to have a DXA scan even with a diagnosis from a CT scan.

“I don’t think at this point this one test is going to prevent further testing. I think it will identify patients who are at a higher risk and need more testing,” said Hull, who wasn’t involved with the new research.

SOURCE: bit.ly/Zwi3u5 Annals of Internal Medicine, online April 15, 2013.

‘Cryoablation’ might offer therapeutic option for cancer patients whose disease has spread

By Alan Mozes
HealthDay Reporter

SUNDAY, April 14 (HealthDay News) — A method designed to target, freeze and destroy a tumor’s cellular function seems effective in combating lung tumors, a small ongoing study finds.

At least in the short-run — meaning three months after the procedure — the intervention known as “cryoablation” appeared to kill all targeted tumors that had spread to the lung from elsewhere, preliminary results suggest.

However, some patients developed new tumors in that time period, the researchers noted.

The study authors cautioned that while the initial findings are encouraging, the treatment should not be seen as a cure for this type of metastatic (spreading) lung disease. Rather, they said that for certain patients who may not be eligible for more standard surgical approaches, the therapy has potential as an alternative means for offering an improved quality of life for a longer period of time.

“‘Promising’ is the perfect way to describe our findings,” said study lead author Dr. David Woodrum, an interventional radiologist at the Mayo Clinic in Rochester, Minn. “But whether or not this minimally invasive approach would ultimately become a primary method of treatment in the future will depend on the long-term results of this trial, which is still under way. At this point I would say that cryoablation has the most applicability as a kind of last-ditch treatment for patients who are not good surgical candidates for a variety of reasons.”

Woodrum and his colleagues are scheduled to discuss their findings Sunday in New Orleans at the annual meeting of the Society of Interventional Radiology. Funding for their work was provided by Galil Medical, a medical device manufacturer based in Arden Hills, Minn.

Because this study was presented at a medical meeting, the conclusions should be considered preliminary until published in a peer-reviewed journal.

The U.S. National Cancer Institute points out that while cryoablation (also known as cryosurgery) is a well-known practice, researchers are still in the process of assessing its long-term benefits.

The procedure is performed by an interventional radiologist on patients coping with metastasized lung tumors, the researchers noted. Using CT-imaging equipment, the physician inserts a small needle-like instrument directly into the tumor to deliver the freezing power (at temperatures as low as minus 100 degrees Celsius) of liquid nitrogen to cancer cells, while sparing healthy surrounding tissue.

To date, the team behind the new study has used the procedure to tackle a total of 36 tumors in 22 American and French patients –13 men and nine women — whose average age was 60. Fifteen patients had just one tumor, while the rest had two or more. None of the patients was deemed eligible for standard surgical interventions.

The targeted tumors were less than 3.5 centimeters (about 1.4 inches), which Woodrum described as being “small to medium in size.”

The procedure was performed under either general anesthesia or conscious sedation, and lasted anywhere from 45 minutes to nearly three hours. Typically, patients were able to return home the following day.

The result: Among the 15 patients seen roughly three months post-procedure, tumor control was found to be 100 percent, although six patients were found to have developed new lung tumors in the interim.

Among five patients seen six months after the procedure, tumor control continued to be 100 percent.

The authors noted that side effects were minimal, typically involving air or fluid around the lungs after the procedure, and in all cases were resolved quickly.

The team concluded that cryoablation appears to be both safe and effective, at least in the short-term. But they acknowledged that more research needs to be done to track the treatment’s impact over the long haul.

“It would be overreaching to say that we’re curing cancer with this,” Woodrum said. “But this is one of many therapy options that is looking to turn cancer into a chronic fight, and to give patients for whom the choices are limited a chance at a good quality of life with minimal treatment complications.”

For his part, Dr. David Carbone, a professor and director of the James Thoracic Center at the Ohio State University Wexner Medical Center, said that the findings regarding cryoablation are “not incredibly novel,” given that the procedure has been around for years.

“And I would say that there are multiple different technologies for doing this kind of very localized approach,” he added. He mentioned stereotactic radiosurgery — which targets the tumor with high-power X-rays — as another way to go.

“While I’ve done cryoablation myself in the past, it’s not what I typically do,” Carbone noted. “Stereotactic is noninvasive and doesn’t require general anesthesia, so that’s what I’d tend to do, although certainly what approach is ideal will depend on a particular patient’s situation and symptoms. But there’s no situation in which cryoablation would be the only theoretical option.”

More information

For more about cryoablation, visit the U.S. National Cancer Institute.

SOURCES: David Woodrum, M.D., Ph.D., interventional radiologist, department of radiology, Mayo Clinic, Rochester, Minn.; David Carbone, M.D., Ph.D., professor and director, James Thoracic Center, Ohio State University Wexner Medical Center, Columbus, Ohio; April 14, 2013, presentation, Society of Interventional Radiology meeting, New Orleans

Last Updated: April 15, 2013

Eating walnuts may reduce the risk for Type 2 diabetes in women, a large new study concludes.

Previous studies have suggested an inverse relationship between tree nut consumption and diabetes. Though the findings are correlational, walnuts are uniquely high in omega-3 and omega-6 fatty acids, which may be of particular value in Type 2 diabetes prevention.

The scientists, writing in the April issue of The Journal of Nutrition, used dietary and health data on 138,000 women participating in a large continuing study of women’s health. Beginning in 1999 they collected data on walnut consumption, and followed the women for the next 10 years. They found 5,930 cases of Type 2 diabetes.

Women who ate walnuts tended to weigh less, consume more fish and exercise more than those who did not. But researchers controlled for these and many other factors, and found that compared with women who ate no walnuts, those who consumed 8 ounces of walnuts or more a month reduced their risk for Type 2 diabetes by 24 percent.

“There’s been a lot of research on nuts in general in relation to cardiovascular health,” said the senior author, Dr. Frank B. Hu, a professor of medicine at Harvard. “This is the first on walnuts and diabetes. Walnuts may have some unique benefits.”

The study was supported with grants from the National Institutes of Health and the California Walnut Commission.

WEDNESDAY, April 3 (HealthDay News) — A new class of sleep medications appears to help people fall asleep without causing grogginess the next day, researchers say.

These new medications — known as dual orexin receptor antagonists (DORA) — target a more specific region of the brain than popular sleep drugs such as Ambien and Lunesta, promoting sleep without affecting learning and memory (also called “cognition”), according to the new research.

“We’ve shown that these compounds improve sleep at doses that don’t impact cognition,” said Jason Uslaner, lead author of a study published in the April 3 issue of Science Translational Medicine. Uslaner is director of In Vivo Pharmacology at Merck & Co., which funded the study.

Merck already has one such drug, suvorexant, under review by the U.S. Food and Drug Administration (FDA).

More than 30 million Americans struggle to get a good night’s sleep, and about one-third of these use drugs to help the process, the study authors pointed out.

But widely prescribed sleep medications such as Ambien (zolpidem) and Lunesta (eszopiclone) can leave people feeling hung over and inattentive the next day. So much so that the FDA recently cut recommended doses of Ambien and other drugs that contain zolpidem for fear that their use, even the night before, might impair driving or other activities the next day.

Lunesta and Ambien affect GABA receptors, which are found throughout the brain and are associated with side effects, including thinking disturbances, and deficits in attention and memory, explained Uslaner.

About 15 years ago, scientists discovered chemical messengers known as orexins, which are released by a relatively small brain region known as the lateral hypothalamus. This area of the brain releases orexins during the day to keep us awake and lowers levels at night so we can sleep.

The appeal of orexin antagonists, said Dr. Michael Thorpy, director of the Sleep-Wake Disorders Center at Montefiore Medical Center in New York City, is that they “target a system that’s more specific for sleep.”

That means, theoretically, fewer side effects and perhaps less of a tendency to be habit forming, Thorpy explained.

Uslaner and his colleagues investigated a compound called DORA-22, which has the same mechanism of action as suvorexant, to see how it fared alongside not only Ambien and Lunesta but also diazepam (Valium) in rats and rhesus monkeys.

DORA-22 did not lead to the same mental impairments as the other three drugs. Rhesus monkeys and rats performed just as well on memory and attention tasks shortly after being administered DORA-22 as they did on an inactive placebo.

In each case, the minimum dose to achieve sleep was compared with the minimum dose that altered memory and thinking. DORA-22 promoted sleep at lower doses than those that impaired mental skills when compared with the “control” drugs.

This is the first time in years that scientists have targeted a totally different receptor in the quest to combat insomnia, said Dr. Alexandre Abreu, co-director of the UHealth Sleep Center at the University of Miami Miller School of Medicine.

But many questions remain: Do the drugs truly have fewer side effects? Will they be habit forming? And will they change the quality of sleep in any way?

Those questions will only be answered with more testing and use in humans, he said.

Experts note that findings from animal studies do not always hold up in human trials.

More information

The U.S. National Institutes of Health has more on insomnia.

SOURCES: Jason Uslaner, Ph.D., director, In Vivo Pharmacology, Merck & Co.; Michael Thorpy, M.D., director, Sleep-Wake Disorders Center, Montefiore Medical Center, New York City; Alexandre Abreu, M.D., co-director, UHealth Sleep Center, University of Miami Miller School of Medicine, Miami, Fla.; April 3, 2013, Science Translational Medicine

Last Updated: April 03, 2013