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Posts Tagged ‘england journal of medicine’

Prenatal Surgery for Spina Bifida Makes the Womb an Operating Room

February 10th, 2011 02:10 admin View Comments

The birth defect spina bifida is a devastating condition, often leading to a life of cognitive disability and even paralysis. But for a new study in the New England Journal of Medicine, doctors have shown that fetal surgery conducted in utero, though tricky and carrying some risk, can help to fight the ravages of this affliction.

The study focused on women carrying fetuses diagnosed with myelomeningocele, the most common and most severe form of spina bifida, in which the spinal cord bulges outside the spinal column. The condition can result in lifelong cognitive disabilities, fluid on the brain, bowel problems and paralysis. Typically surgeons operate on such babies within a few days of birth. [Science News]

The option of performing surgery before birth—sealing the opening in the spinal column while the fetus is in the womb—has actually been around for more than a decade.

But no one knew if operating before birth was preferable to operating after. What they did know was that fetal surgery had a number of complications, including causing premature birth, which in some cases killed babies who would otherwise have survived. [ScienceNOW]

Now more results are in. Comparing 78 babies who received the prenatal procedure to a control group of 80 babies who received the procedure just after birth, the researchers found that 42 percent of the prenatal surgery group learned to walk without walking aids, as opposed to just 21 percent from the control group. Also, many fewer required shunts—passages created to drain fluid from the brain.

The spina bifida procedure was considered beneficial enough that an independent safety monitoring board stopped the study early so babies scheduled to receive surgery after birth could have access to prenatal surgery. But there were medical downsides for the women and infants: greater likelihood of being born several weeks earlier than the postnatal group, related breathing problems, and thinning or tearing at women’s surgical incisions, requiring Caesarean sections for later births. [The New York Times]

So while experts told the New York Times that this procedure isn’t quite a “home run” and say that the secondary risks need to be assessed, it’s still a heartening advance against spina bifida.

Image: Wikimedia Commons

Source: Prenatal Surgery for Spina Bifida Makes the Womb an Operating Room

Undiagnosed Diseases Program Cracks Its First Medical Case

February 4th, 2011 02:38 admin View Comments

What would you do if calcium deposits were building up in your blood vessels and making it hard to walk, and your doctors said they couldn’t help because they had no idea what disease you had, or how to treat it? Before 2008 you wouldn’t have had many options, but thanks to the National Institute of Health (NIH) you now have at least one: visit the Undiagnosed Diseases Program–where medical researchers just cracked their very first case.

Located in Bethesda, Maryland, this program takes on the medical cases that stump other hospitals. The program has received over 1700 referrals since it started, and has accepted only 330 of them. The results of their first case were published this week in The New England Journal of Medicine, but it all started with dumbfounded doctors and some confusing x-rays:

In 2009, the program received a referral from a Kentucky doctor for two sisters, Paula Allen and Louise Benge, who suffered from joint pain and showed calcium buildup in their arteries in x-rays…. The images “astounded us,” [program director William] Gahl said. The team obtained DNA samples from the sisters and other family members (three of Allen and Benge’s siblings had the same recessive disease) and scanned the DNA for markers called single nucleotide polymorphisms that the researchers used to narrow the location of the disease gene. By also examining this genetic region in two other families with similar disorders, the researchers were able to pinpoint a mutation in a specific gene, NT5E, which is involved in breaking down calcification in the arteries. [ScienceInsider]

The new genetic disease has been dubbed ACDC (sorry, music fans), which stands for arterial calcification due to CD73 deficiency. Researchers consider the investigation and diagnosis a triumph for the program:

“A success like this buoys us emotionally and encourages us,” program director and study co-author William Gahl, who is also director of the NIH Clinical Center, said in a press conference Tuesday. [ScienceInsider]

But the experts haven’t yet learned how to treat the disease effectively, so the breakthrough is bittersweet for the two sisters.

Allen and Benge praised the “impressive” work by NIH. “Even if they can’t help us, maybe someday they can help someone else with these problems,” said Benge. [ScienceInsider]

Their hope lies in what the NIH is currently working on:  a clinical trial to treat ACDC that has the potential to also treat other diseases, such as atherosclerosis. And the sisters wouldn’t be the only ones to benefit from the ACDC treatment: nine people have already been diagnosed with this disease. The benefits of the NIH program shouldn’t stop there, as University of Washington geneticist Michael Bamshad explains:

“There are probably hundreds, if not thousands, of syndromes with the same potential that await discovery.” [Nature]

Aside from the thrill of cracking its first case, though, and the potential for cracking many others, the Undiagnosed Diseases Program represents much more:

“Patients who have rare diseases are often abandoned by the medical community,†Dr. Gahl said. “We don’t know how to treat if we don’t have a diagnosis. The way our society treats abandoned individuals is a measure of our society. It speaks to how our society treats the poorest among us.†[New York Times]

Image: NHGRI/NIH

Source: Undiagnosed Diseases Program Cracks Its First Medical Case

Do Sleepy Surgeons Have a Right To Operate?

January 1st, 2011 01:14 admin View Comments

Hugh Pickens writes “BusinessWeek reports that a commentary from the New England Journal of Medicine calls on doctors to disclose when they’re deprived of sleep and not perform surgery unless a patient gives written consent after being informed of their surgeon’s status. ‘We think that institutions have a responsibility to minimize the chances that patients are going to be cared for by sleep-deprived clinicians,’ writes Dr. Michael Nurok, an anesthesiologist and intensive care physician. Research suggests that sleep deprivation impairs a person’s psychomotor skills — those that require coordination and precision — as much as alcohol consumption and increases the risk of complications in patients whose surgeons failed to get much shuteye.”

Source: Do Sleepy Surgeons Have a Right To Operate?

Once-a-Day Pill Reduces HIV Infections—Would People Actually Take It?

November 23rd, 2010 11:59 admin View Comments

pillsA drug called Truvada seems to be able to prevent HIV infection from taking hold in the body when taken regularly. The once-a-day pill combines two anti-retroviral drugs, and was found to reduce new HIV infections in a study of 2,500 gay men. But there are two big issues: compliance and cost.

In the study, which was published in the New England Journal of Medicine, men who took the pill were 44 percent less likely to contract the disease than those on placebo. But when the researchers looked only at the men who took the pill faithfully, the number jumped to 90 percent.

“These results represent a major advance in HIV-prevention research,†says physician Kevin Fenton of the Centers for Disease Control and Prevention in Atlanta. “For the first time, we have evidence that a daily pill used to treat HIV is partially effective for preventing HIV among gay and bisexual men at high risk of infection.†Fenton cautions, however, that the results don’t warrant abandoning other proven prevention techniques. [Science News]

While the results are certainly promising, it remains to be seen if at-risk people would take a pill every day.

[M]any men in the study failed to take all their pills, and some clearly lied about it. For example, some who claimed to take them 90 percent of the time had little or no drug in their bloodstreams. Although the pills caused no major side effects in the study, some men disliked the relatively minor ones, like nausea and headaches. [New York Times]

Truvada is already available by prescription in most countries, as one of the many anti-retroviral drugs used in HIV treatment cocktails. It is made by Gilead Sciences, and costs $36 per day in the United States (though the price drops to 40 cents for a generic version available in poor countries). With the price of a single pill so high in the United States, treatment costs quickly get astronomical. Still, NPR’s blog suggests that daily preventative pills could be more cost effective than lifetime care for AIDS patients.

Some doctors already prescribe Truvada for use as a prophylactic and more are likely to start, though health officials and researchers recommend waiting for additional studies.

“It’s vital that we expand the ways we can prevent HIV transmission, particularly amongst those most at risk,” [Sir Nick Partridge of the Terrence Higgins Trust] said in a statement. “This trial proves that HIV treatment will have an impact on prevention, but that it’s not ready for widespread use yet. Three major hurdles are still going to be its cost, the risks of drug-resistant strains of HIV developing and taking a drug treatment every day.” [BBC News]

There are still many unknowns: researchers worry that users might feel too protected and stop using condoms; the drug might not be as effective with women and heterosexual men; the drug could have toxic effects when taken continually. Further studies will probe these questions. But since most experts advocate a multi-pronged approach to fighting the HIV epidemic, the use of anti-retrovirals as prophylactics may well find a role.

Image: Flickr/.candy

Source: Once-a-Day Pill Reduces HIV Infections—Would People Actually Take It?

Found: The First Genetic Mutations That Cause Stuttering

February 11th, 2010 02:33 admin View Comments

mouth

Researchers from the National Institutes of Health have discovered the first genes linked to stuttering — a complex of three mutated genes that may be responsible for one in every 11 stuttering cases, especially in people of Asian descent [Los Angeles Times]. Scientists have long suspected that stuttering has genetic roots, as it’s often seen in families and twins, but this is the first time they’ve identified genes linked to the problem.

Dennis Drayna, the geneticist who led the study, said he was shocked that two of the implicated genes were linked to rare, fatal metabolic disorders [USA Today], but noted that must stutterers don’t suffer from those disorders. Surprisingly, the genes that were altered in the stutterers are involved in removing metabolic waste from brain cells.

The researchers analyzed a section of chromosome 12 in a large Pakistani family and found that there were several mutations in three particular genes. “We think a special group of cells in the brain are particularly sensitive to these subtle mutations in these genes,” Drayna said [BusinessWeek]. He suspects that the mutated genes still partially function, but likened the system to a car that needs a tune-up: “It still runs but not quite right. Some cells in the body need this to run like a Ferrari in order to function properly and those cells are involved in the production of speech in the brain,” he continued [BusinessWeek].

Drayna said that this finding, published in the New England Journal of Medicine, would be instrumental in identifying children who might develop a speech impediment later on in life. This could help parents preclude future problems by getting the child into speech therapy early on. The National Institutes of Health estimates that there are 3 million people in the United States afflicted with this speech impediment–many of them children. About 60 percent of these people have at least one family member who stutters. Researchers believe that other genes will be found that also play a role in stuttering.

Image: iStockphoto

Source: Found: The First Genetic Mutations That Cause Stuttering