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April 06, 2012
NIH Podcast Episode #0156
Balintfy: Welcome to episode 156 of NIH Research Radio. NIH Research Radio bringing you news and information about the ongoing medical research at the National Institutes of Health – NIH . . . Turning Discovery Into Health. I'm your host Joe Balintfy, and coming up in this episode: last week was World TB Day, we’ll get details on this year’s theme; a report on Alzheimer’s disease and a gene discovery that shows promise; a focus on rare disease research at the NIH Clinical Center; plus insight on one particular rare disease called narcolepsy. But first, this news update. Here’s Craig Fritz.
News Update
Fritz: A study funded by NIH shows that the brain appears to be wired more like the checkerboard streets of New York City than the curvy lanes of the pacific coast highway. The most detailed images to date, reveal a pervasive 3d grid structure with no diagonals. Researchers say images show the brain being far from just a tangle of wires, its connections turn out to be more like cables that cross paths at right angles. This grid structure is continuous and consistent at all scales and across humans and other primate species. A high resolution technique called diffusion spectrum imaging makes it possible to see the different orientations of multiple fibers that cross at a single location — the key to seeing the grid structure. Among immediate implications, the findings suggest a simplifying framework for understanding the brain's structure, pathways and connectivity. Scientists note that getting a high resolution wiring diagram of our brains is a landmark in human neuroanatomy. This new technology may reveal individual differences in brain connections that could aid diagnosis and treatment of brain disorders.
An NIH study has shown that a new technique for improving delivery of stem cells may lead to better and faster tissue repair. A breakthrough with promise for sports medicine and military populations. Researchers discovered a way to enhance delivery of transplanted cells in rodents to a desired site by increasing presence of chemicals that attract the introduced cells. Focused ultrasound interacted with tissues to elevate levels of naturally produced chemicals on target tissues. Transplanted stem cells have receptors for these chemicals, so an increased presence attracts more of them to the desired site. Usually only 1 to 3 percent of IV transplanted cells make it to the desired target. By increasing the presence of chemically attractive factors, researchers in the laboratory saw 8 to 10 times more transplanted bone marrow cells in a focused ultrasound-treated rodent kidney than a non-treated kidney. The attractive chemical agents are enhanced during inflammation or injury, but their elevations last for a short time. Researchers in the laboratory showed that they can extend that window or open a new one using focused ultrasound. An advantage of this improved delivery method is that the focused ultrasound does not cause any adverse effects to the treated tissue. Researchers also note that the focused ultrasound permeates deep so human body composition is not a limitation.
According to an analysis of nearly 140,000 deliveries, women take longer to give birth today than did women 50 years ago. The analysis was conducted by researchers at NIH. The researchers could not identify all of the factors that accounted for the increase, but concluded that the change is likely due to changes in delivery room practice. The analysis compared data on deliveries in the early 60s to data gathered in the early 2000s. They found that the first stage of labor had increased by 2.6 hours for first-time mothers than for women in the 60s. Infants born in the contemporary group also were born five days earlier, on average, and tended to weigh more. At the time they gave birth, the mothers in the contemporary group were about four years older, on average, than those in the group who gave birth in the 60s. Among the change in delivery practice the researchers found was an increase in the use of epidural anesthesia to decrease the pain of labor. For the contemporary group, epidural injections were used in more than half of recent deliveries, compared with just 4 percent of deliveries in the 60s. The study authors noted that epidural anesthesia is known to increase delivery time, but said it doesn't account for all of the increase. Doctors in the early 2000s also administered the hormone oxytocin more frequently. It was used in 31 percent of deliveries, compared with 12 percent in the 60s. Oxytocin is given to speed up labor, often when contractions seem to have slowed. Its use should be expected to shorten labor times, and researchers note that without it, current labor might even be longer than what they found.
For this NIH news update – I’m Craig Fritz
Balintfy: News updates are compiled from information at www.nih.gov/news. Coming up Alzheimer’s disease, rare disease research, narcolepsy and tuberculosis, that’s next on NIH Research Radio.
(BREAK FOR PUBLIC SERVICE ANNOUNCEMENT)
World TB Day
Balintfy: Tuberculosis, commonly known as TB, is an ancient disease. Evidence of it has been found in Egyptian mummies thousands of years old, and TB was common in both ancient Greece and Imperial Rome. While TB has lessened its grip on mankind during some periods of history, TB never completely let go. Even as recently as last week, Saturday, March 24, researchers and health professionals announced World TB Day and this year’s theme: “Eliminate TB in my Lifetime.” Tuberculosis or TB remains one of the major causes of disability and death worldwide.
Fauci: TB is a challenge because it is one of the most pervasive diseases, certainly infectious diseases in the world.
Balintfy: Dr. Anthony Fauci is an NIH institute director. He explains that TB is a contagious and an often severe airborne disease caused by a bacterial infection, typically in the lungs.
Fauci: If we look at the big killers, HIV, AIDS, malaria, tuberculosis, tuberculosis, there are about 8 million plus new active cases per year; there are about 1.45 million deaths per year. About one-third of the entire world's population is infected with tuberculosis, usually latent tuberculosis, but that's always a threat for activation. So this is a huge, huge problem of immense dimensions, so it's just one of those things that we have to start getting our arms around.
Balintfy: NIH researchers point out that although recent progress against the disease is heartening, the control and eventual elimination of TB will require a long-term, multifaceted commitment from the global health and research communities.
Fauci: We have done well in some respects with tuberculosis, but we have a lot of gaps that we need to fill. The theme of this year's World Tuberculosis Day is “Eliminating Tuberculosis in My Lifetime,” which is a very bold statement. But I think it is feasible. It's feasible because we finally have reawakened and rekindled the interest and the resources in filling major research and implementation gaps with tuberculosis.
Balintfy: Dr. Fauci adds that TB research needs to be brought into the 21st century.
Fauci: Some of the tools that we are still using are 19th century tools like the microscope for the diagnostics of smears, of sputum for tuberculosis. We have not really developed a brand-new drug exclusively for tuberculosis in over 40 years. We have a vaccine that does not work at all in pulmonary tuberculosis. We don't understand the pathogenesis of TB. We don't know why people have latent tuberculosis and why some go on to activate. There are so many things that we don't understand that we are just now starting to really scratch the surface of.
Balintfy: Of note the World Health Organization is now including biomedical research as a critical part of the global fight against TB. And at NIH, TB clinical research capacity for adults and children, with and without HIV co-infection, is increasing.
Fauci: So I have a lot of optimism that with the enhanced implementation of the tools that we already have, together with a major push on developing countermeasures in the form of diagnostics, therapeutics, and hopefully a vaccine, that I think the theme of this year's World Tuberculosis Day is something that's not completely out of the realm of reality.
Balintfy: To see a complete statement regarding World TB Day, and for more information on TB and TB research efforts, visit www.niaid.nih.gov.
(TRANSITION MUSIC)
Blockade of learning and memory genes may occur early in Alzheimer’s disease
Balintfy: From an infectious disease, to a non-communicable one: Alzheimer’s disease: it’s an irreversible, progressive brain disease that slowly damages memory and thinking skills. Eventually it can even destroy the ability to carry out the simplest tasks of daily living. But now researchers have found that blocked activity of learning and memory genes is an early, and potentially treatable, event in Alzheimer’s disease. Wally Akinso has the story.
Akinso: Reduced gene activity in the brain appears to be an early event affecting people with Alzheimer's disease.
Corriveau: The gene is called HDAC2.
Akinso: Dr. Roderick Corriveau is an expert on Alzheimer's disease here at the NIH. He says HDAC2 is known to tighten up spools of DNA, effectively locking down the genes within and reducing their activity, or expression.
Courriveau: Think of this string of holiday lights that has been put in a box and the end of a holiday season and it's all bundled up in that box. In fact it's a ball and it's all tightly wound together. This tangled ball represents the genetic tools for making new memories and the unusable state that we find them in, in Alzheimer's disease.
Akinso: In a NIH study, researchers found that HDAC2 accumulates in the brain early in the course of Alzheimer's disease in mouse models and in people with the disease.
Corriveau: This gene is involved in turning off genes that are involved in Alzheimer's disease by making them like the string of holiday lights that are in a ball. And it's kind of like the gene is the box itself. Our ability to make new memories is put into this box and it becomes all tangled up. And this study showed that when you take away the gene all of a sudden the lights can come out and they can go into a long string again and they can be turned on and we can start to make new memories.
Akinso: Alzheimer's disease is the most common cause of dementia in older adults, and affects as many as 5.1 million Americans. In the most common type of Alzheimer's disease, symptoms usually appear after age 65. Dr. Corriveau says these findings could set the tone for new treatment for Alzheimer's disease.
Corriveau: Well right now there's no drug or therapy that can cure, stop, or prevent Alzheimer's disease. The study is an important step in developing a new therapy or strategy for a new therapy. And this is a new therapy that would go directly to the genes that are important for making new memories.
Akinso: Dr. Corriveau adds that their goal is to prevent the disease from occurring at all. For information on this study, visit www.ninds.nih.gov. For NIH Radio, this is Wally Akinso.
(TRANSITION MUSIC)
Rare disease research focus at 2nd annual NIH event
Balintfy: For more on Alzheimer’s disease, visit www.nia.nih.gov/Alzheimers. While Alzheimer’s and TB are fairly common diseases, we’re turning now to rare ones. In fact, we’ll have an interview about one particular rare disease in just a little bit, but my colleague Ellen Crown at the NIH Clinical Center radio brings us this next story about Rare Disease Day. She explains that NIH joined with government agencies and advocacy organizations to recognize Rare Disease Day, an annual observance that is gaining strength worldwide.
Crown: The event is co-sponsored by the Office of Rare Diseases Research, part of the National Center for Advancing Translational Sciences, and the Clinical Center. It focuses on bringing together scientists and other key stakeholders to discuss cutting-edge research, new technologies, and treatments for some of the most uncommon conditions. Dr. Stephen Groft, director of the Office of Rare Diseases Research at NIH:
Groft: With rare diseases we find that you need multiple partners to have a successful approach to the development of any interventions. And the approach that we are talking about will include participation by the research community. It will include, naturally, the patients or the patient advocacy groups, (and) the NIH researchers in the intramural program and the extramural research program, as well as the regulatory scientists at the Food and Drug Administration. And, lastly, a major partner is the pharmaceutical industry that we hope will produce the products that come out of the research that is being conducted and supported by the National Institutes of Health.
Crown: As an annual event, Rare Disease Day has only been around for five years. It was first observed in Europe in 2008. But hosting an event at the Clinical Center was a natural fit for NIH, which focuses on a variety of different types of research, including rare and undiagnosed diseases.
Groft: It raises a great deal of curiosity about what is causing this disease. What is the basic mechanism? I think many times, too, the physicians and the scientists who are involved in rare diseases come upon a question. They see the needs of the patient and the families. They make a personal commitment that they are going to try to evaluate what is going on and really to understand the disease better by generating research studies that will answer the questions to provide they need to enable research to move forward, hopefully, to the point of developing an intervention or diagnostic for that rare disease.
Crown: If you would like to know more about NIH’s current studies, search them online at clinicalstudies.info.nih.gov.
Balintfy: Again, that’s Ellen Crown reporting for NIH Clinical Center radio. Please be sure to check out CC Radio podcasts and radio stories at the website clinicalcenter.nih.gov/podcast. And coming up, details on one particular rare disease: narcolepsy. That’s next on NIH Research Radio.
(BREAK FOR PUBLIC SERVICE ANNOUNCEMENT)
Narcolepsy
Balintfy: We just heard about Rare Disease Day and now take a look at just one. This one just barely meets the definition of a rare disease: The incidence is about one in 200-thousand people. It’s called narcolepsy and is a chronic disorder of the central nervous system.
Cizza: When patients have narcolepsy, they fall asleep during the day.
Balintfy: And suddenly says NIH researcher Dr. Giovanni Cizza. In narcolepsy, the brain is unable to control sleep-wake cycles. So people with narcolepsy experience irresistible and sudden bouts of sleep. Those sleep-episodes can last from a few seconds to several minutes. And Dr. Cizza adds they can be dangerous.
Cizza: So there was a lady suffering from narcolepsy who liked to swim, and she only could go if someone continuously watched her because she could fall asleep while swimming.
Balintfy: In addition to sleep episodes during waking hours, and sleep disturbances at night, another symptom of narcolepsy is called cataplexy.
Cizza: Which is when the muscle tone disappears.
Balintfy: The loss of muscle tone can be barely noticeable, involving no more than a momentary sense of slight weakness in a limited number of muscles, for example, mild drooping of the eyelids. The most severe attacks result in a complete loss of tone in all voluntary muscles; this leads to total physical collapse during which individuals are unable to move, speak, or even keep their eyes open. But even during the most severe episodes, people remain fully conscious, a characteristic that distinguishes cataplexy from seizure disorders. Dr. Cizza notes that narcolepsy, even though the symptoms are very specific and unusual, is often undiagnosed.
Cizza: I have seen many subjects with narcolepsy who told me that it took many, many years for them to be diagnosed and most often, they were diagnosed either by themselves or by friends, non-physicians. There was a lady whose girlfriend in college who was sharing the room was studying psychology and looked at her and said, “You might have narcolepsy.” So it is unusual.
Balintfy: He adds that usually, these subjects go through a lot of other diagnoses such as depression, hypothyroidism or chronic fatigue syndrome. But it may be many years before a diagnosis.
Cizza: There was a gentleman who had narcolepsy for a long time, and when he was growing up, his father would scold him and sometimes beat him at the table because he would fall asleep at dinner. And then when maybe this person was 20, they invited for dinner a neurologist. It was a family friend. And the neurologist said, “I think your son has narcolepsy,” and that's how he was diagnosed.
Balintfy: Once diagnosed, dealing with narcolepsy is not easy. Dr. Cizza explains that there are medications that can treat narcolepsy, some are expensive, others have more side effects. But he adds that awareness of the condition is also a big help.
Cizza: Unfortunately there is not the same awareness about the consequences of narcolepsy. For example, some of these subjects are discriminated because they are seen as lazy.
Balintfy: Dr. Cizza compares the awareness of a disease like type 2 diabetes where most people understand how serious and debilitating it is to patients.
Cizza: I remember one saying that she asked her boss if she could nap, and they said, “No, this is a bad example for others.” It's the same way as saying, “You need to go to the bathroom to inject your insulin and I won't let you go to the bathroom because otherwise your colleagues are going to take too many bathroom breaks.”
Balintfy: Dr. Cizza points out that people with narcolepsy can manage the condition and be very successful.
Cizza: If you adjust the environment, not too much, but if they can take let's say 10-15 minutes nap, they do okay; they do fine. But unfortunately, this is not always possible.
Balintfy: A cure for narcolepsy is also not clear. But Dr. Cizza says researchers are closer, having discovered the cause.
Cizza: There is a little hormone, a small hormone, a peptide, we call it orexin, which is in the brain, and this peptide is less or is lacking in subjects with narcolepsy.
Balintfy: Narcolepsy affects both males and females equally and appears throughout the world. It most often starts in childhood or adolescence, and is lifelong. Dr. Cizza is currently conducting a research study on narcolepsy at the NIH Clinical Center.
Cizza: We are doing this study because these subjects may also have alteration in their metabolism and we think that they may have problems in keeping their weight down unless they exercise rigidly.
Balintfy: Dr. Cizza explains that the gene involved in narcolepsy is also involved in weight gain, in fact, obesity in some.
Cizza: The idea is to see why they gained weight, and apparently, it's an unusual reason to gain weight because most obesities are due to eating more, and apparently the subjects burn less.
Balintfy: We’ll be hearing more from Dr. Giovanni Cizza in future episodes of NIH Research Radio because I volunteered to participate in his study as a healthy control – that means he’ll compare my metabolism with patients who have narcolepsy. In the mean time for more information about narcolepsy, visit www.ninds.nih.gov/disorders/narcolepsy.
(THEME MUSIC)
Balintfy: And that’s it for this episode of NIH Research Radio. Please join us again on Friday, April 20th when our next edition will be available. In that episode – have you ever heard the term “bench” when talking to a researcher?
“It's not a bench under the cherry blossoms, which happened to be beautiful right now. No, the bench is the concept that they are in a laboratory and they are working in the lab looking at what their particular hypothesis is.”
In the mean time if you have any questions or comments about this program, or have story suggestions for a future episode, please let me know. Send an email to NIHRadio@mail.nih.gov. Also, please consider following NIH Radio via Twitter @NIHRadio, or on Facebook. Until next time, I'm your host, Joe Balintfy. Thanks for listening.
Announcer: NIH Research Radio is a presentation of the NIH Radio News Service, part of the News Media Branch, Office of Communications and Public Liaison in the Office of the Director at the National Institutes of Health in Bethesda, Maryland, an agency of the US Department of Health and Human Services.
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