NIH Radio
January 29, 2010
NIH Podcast Episode #0102
Balintfy: Welcome to episode 102 of NIH Research Radio with news about the ongoing medical research at the National Institutes of Health—the nation's medical research agency. I'm your host Joe Balintfy. Coming up in this episode: a breakthrough treatment for sickle cell disease in adults; how a pregnancy condition can lead to thyroid risk; tips for older Americans to stay safe in cold weather; and two NIH directors share their unique perspectives on health concerns in Haiti. But first, this news update.
News Update
Balintfy: Researchers have discovered a third gene that accounts for previously unexplained forms of osteogenesis imperfecta; also called brittle bone disease, it’s a genetic condition that weakens bones, results in frequent fractures and is sometimes fatal. The newly identified gene contains the information needed to make a protein that modifies collagen. Collagen functions like a molecular scaffolding that holds together bone, tendons, skin and other tissues. Researchers at the Eunice Kennedy Shriver National Institute of Child Health and Human Development say, this discovery, published in the New England Journal of Medicine, provides new information on how collagen folds during normal bone formation, which may also lead to greater understanding of other bone disorders.
Most migraine sufferers know that light can intensify headache pain. A new study of blind patients with migraine, supported by the National Institute of Neurological Disorders and Stroke and Research to Prevent Blindness, may help explain why. The study shows that the optic nerve, which carries light signals to the brain, must be key to light-induced migraine. Further research points to a brain pathway that does not form images, although the scientists note that additional mechanisms may be involved. Scientists say this sets the stage for identifying ways to block the pathway so that migraine patients can endure light without pain.
And finally, a recent study also published in the New England Journal of Medicine reports significant increases in pneumonia among American seniors occur only during the U.S. winter holidays. This suggests—but does not demonstrate—that pneumonia may be transmitted from children to elders during year-end gatherings. The study, by researchers from the U.S. Centers for Disease Control and Prevention, suggests the spike in pneumonia cases is unique to the winter holidays, is more common among older women, and does not occur during the rest of the year. The researchers assessed about 40,000 pneumonia cases from across the nation during the years before and after a pneumonia vaccine became available earlier in this decade. Importantly, the study suggests holiday pneumonia spikes among seniors declined significantly after a pneumonia vaccine became available, with the exception of one year. In a HealthDay report about the study, at least one expert suggests the study underscores the importance for seniors to get the pneumonia vaccine, which protects for about six years.
News updates are compiled from information at www.nih.gov/news as well as the MedlinePlus podcast. Coming up after this break, news about a sickle cell disease breakthrough, and a preeclampsia-thyroid link. Also, what Haitians need to help their health. We’ll be right back.
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Blood Stem-Cell Transplant Regimen Reverses Sickle Cell Disease in Adults
Balintfy: Sickle cell disease is a group of disorders that affects hemoglobin: that’s the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease—and there are millions worldwide—have unusual hemoglobin molecules, which can distort red blood cells into a sickle, or crescent, shape. When this happens, the red blood cells break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. Almost all patients with sickle cell anemia have painful episodes which can last from hours to days. Typical treatment only manages and controls symptoms. But recent blood stem-cell transplantation regimens, using chemotherapy to completely destroy bone marrow, have successfully cured children of sickle cell disease, but those regimens are too toxic for adults. Now a new simplified regimen, which does not use chemotherapy, has eliminated sickle cell disease in nine of 10 adults. Wally Akinso has this report.
Akinso: A blood stem-cell transplant regimen has effectively reversed sickle cell disease in adult patients according to a National Institutes of Health study.
Dr. Tisdale: What we did was to take an approach to bone marrow transplant that would allow us to do it in very sick adults.
Akinso: Dr. John Tisdale is the study’s principal investigator in the NIH Molecular and Clinical Hematology Branch.
Dr. Tisdale: This is a study where we were looking to see if we could fix, this disease, sickle cell disease by getting bone marrow stem cells—those are the seeds of the bone marrow that all the blood comes from, from a brother or sister who doesn't have the disease and administer those to the patient with the disease as a way to replace their red blood cell.
Akinso: The study was conducted by the National Institute of Diabetes and Digestive and Kidney Diseases, the National Heart, Lung and Blood Institute, and National Institute of Allergy and Infectious Diseases. Sickle Cell disease is caused by an altered gene that produces hemoglobin, the protein in normal red blood cells that carries oxygen throughout the body. Dr. Tisdale examines how the stem-cell transplant affects sickle cell disease.
Dr. Tisdale: Stem cells in the bone marrow are the source of blood, so all of the blood derives from stem cells. And these stem cells in the bone marrow make the red blood cells and carry the genetic defect. So if we can get stem cells from somebody else who doesn’t have the genetic defect and get them to grow in the patient then they will start making normal red blood cells and replace the defective red blood cells that cause the disease.
Akinso: Dr. Tisdale says given the results, this modified transplant regimen changes the equation for treating adult patients with sickle cell disease in a safer, more effective way.
Dr. Tisdale: We were hopeful that in doing this we could get a mix of both patient and donor cells making blood and get enough to replace the red blood cells of the donor. And in fact that is what we accomplished. So in 9 of the 10 patients that we transplanted, we have a mix of both the donor cells and the recipient cells and it’s enough to completely switch the red blood cells over to the donor type.
Akinso: Dr. Tisdale says that the patients have had a remarkable change in their lives. He added that this regimen will likely have broad application to other nonmalignant diseases and can be performed at most transplant centers. For more information on sickle cell disease and this discovery, visit www.niddk.nih.gov. This is Wally Akinso at the National Institutes of Health Bethesda Maryland.
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Study Finds Link Between Preeclampsia and Reduced Thyroid Function
Balintfy: A team of researchers from the National Institutes of Health and other institutions report that women who experience preeclampsia, a serious complication of pregnancy, may have an increased risk for reduced thyroid functioning later in life. Anahita Hamidi files this report.
Hamidi: Preeclampsia is a pregnancy condition in which high blood pressure and protein in the urine develop late in the 2nd or 3rd trimester. A recent study has found a link between preeclampsia and hypothyroidism, a condition in which the thyroid gland does not make enough thyroid hormone. Dr. Richard Levine is a senior investigator at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and served as the lead author of the study. He explains, researchers found that women who had preeclampsia in more than one pregnancy were at a higher risk for hypothyroidism.
Dr. Levine: And in fact, if they had had preeclampsia in two successive pregnancies their likelihood of having these high levels of Thyroid Stimulating Hormone was much increased. It went from about a two-fold increase with one pregnancy with preeclampsia, to a six-fold increase with two pregnancies.
Hamidi: Preeclampsia is a life-threatening complication that occurs in 3 to 5 percent of pregnancies. Preeclampsia may begin with mild symptoms, and then progress to dangerously high blood pressure and convulsions—which may result in disability or death. The only known cure for preeclampsia is delivery of the baby.
Dr. Levine: Yes, that's what everybody thinks—that when the baby is delivered, and more particularly when the placenta is removed, that all the bad things go away. But it was our idea that maybe preeclampsia left a mark that didn't go away and could lead possibly to increased risk of cardiovascular disease, or kidney disease or in this case thyroid disease after pregnancy. And we did find that it was related to thyroid disease.
Hamidi: Dr. Levine says that while all the long term effects of preeclampsia are not yet fully understood, the results of this study can still guide physicians in asking more educated questions of their patients.
Dr. Levine: I think we know enough that practicing physicians should be asking for pregnancy history and if a woman has had preeclampsia she should be monitored carefully for risk factors for cardiovascular disease, for kidney disease and for the possibility that she might have hypothyroid function.
Hamidi: Dr. Levine adds that the good news is hypothyroidism is easily treatable.
Dr. Levine: If the woman is symptomatic — perhaps she gets tired frequently, she doesn't have much energy or perhaps she has elevated levels of LDL cholesterol and so forth — it could be due to thyroid and she could be treated with thyroxidine which is very inexpensive.
Hamidi: For more information regarding this study and preeclampsia, visit www.nichd.nih.gov. This is Anahita Hamidi, National Institutes of Health, Bethesda, Maryland.
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Hypothermia: Staying Safe in Cold Weather
Balintfy: Now, some seasonal tips to alert older people of the dangers of hypothermia during the winter months. Wally Akinso is back with the basic information about hypothermia, and what to do if you suspect it in someone you know.
Akinso: Older adults are especially vulnerable to hypothermia according to a National Institute on Aging researcher.
Dr. Guralnik: Older people should be particularly careful to prevent hypothermia.
Akinso: Dr. Jack Guralnik is a NIA senior investigator.
Dr. Guralnik: Hypothermia is a condition where an individual is exposed to a cold environment and is unable to maintain his or her body temperature. There’s a result in decline the temperature with a number of symptoms, and when this becomes severe, it can become a dangerous condition.
Akinso: The symptoms of hypothermia are slowed or slurred speech, sleepiness or confusion, shivering or stiffness in the arms and legs, poor control over body movements or slow reactions, and a weak pulse. Dr. Guralnik provides a few tips to help prevent hypothermia.
Dr. Guralnik: First in older people who especially those with chronic medical conditions, even a mildly cold room can have the effect of causing hypothermia. So it’s not just going out in very, very cold weather that can cause this problem. People should dress in multiple layers in order to trap the warm air that their body generates. When going outside they should be sure to dress very well especially wearing a hat to prevent loss of heat through the head and should not stay outside for overly long periods of time when they cold weather is very severe.
Akinso: For more information about hypothermia, visit www.nia.nih.gov. This is Wally Akinso at the National Institutes of Health, Bethesda, Maryland.
Balintfy: Coming up, details on infectious diseases and mental illness risks in Haiti. Stay tuned.
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Health Concerns in Haiti: Infectious Disease and Mental Health Perspective
Balintfy: Welcome back. Now some perspective on the health concerns in Haiti. The US Department of Health and Human Services, the parent agency to NIH, has been collaborating with the government of Haiti and an international coalition of relief groups to deliver urgent assistance to the Haitian people in the wake of the recent earthquake there. To look a little past the headlines, and gain some in-depth insight on how these kinds of tragedies impact people, I talked to two, prominent NIH experts: Dr. Anthony Fauci, Director of the National Institute of Allergy and Infectious Diseases, and Dr. Thomas Insel, Director of the National Institute of Mental Health. I asked them each, what are some of the most common, compelling health problems in situations like this. Here’s Dr. Fauci:
Dr. Fauci: The first thing people need to understand is that there usually is misinterpretation, that the most compelling problem, when you have an earthquake with a lot of deaths like this, that there’s going to be major outbreaks of communicable diseases. Actually, that isn’t the case. In the immediate aftermath, people have crush injuries, people have injuries to virtually every part of their body, immediately, the concern is, what about wound infections? So that’s the first thing; you usually think about communicable diseases, the first thing is wound infections, is to get people properly taken care of from a surgical and from a medical infectious disease standpoint.
Balintfy: Dr. Fauci adds, that later, after the first few days, then the critical issue becomes the infectious diseases associated with the lack of clean water.
Dr. Fauci: There are waterborne infectious diseases that can easily outbreak when you have crowded conditions, unsanitary conditions, and a lack of supply of good, fresh, clean drinking water. If you think of the diarrheal diseases, or the diseases out of the GI tract, you think of salmonellosis, shigellosis, hepatitis A, cryptosporidiosis are all issues that you need to pay attention to. We often hear people say, mistakenly, but understandably, they’re concerned about an outbreak of cholera. There is no cholera in Haiti, so it would be extremely unlikely that there would be an outbreak of cholera in Haiti, even though you don’t want to completely rule it out, it’s not the first thing that you think of when you think of an outbreak of waterborne disease.
Balintfy: Respiratory diseases are also a concern, Dr. Fauci says. It is conceivable that there could be an outbreak of the flu—even an upsurge of the H1N1 influenza—as well as measles.
Dr. Fauci: Also, when you have crowded conditions in unsanitary conditions, you can have the spread of diseases, different types of pneumonia, different types of meningitis, things like that. Those are some of the things that you think of right off the bat. So there are a whole array of infectious diseases, some of which people wouldn’t think about right away, but others of which they think about and are probably not of great concern.
Balintfy: For the mental health perspective, Dr. Tom Insel at NIMH discusses three groups of people.
Dr. Insel: The first, which is probably the most often overlooked, is you have people in Haiti with all these disorders, like schizophrenia and autism and serious mood and anxiety disorders and they will be people who will be particularly vulnerable when they lose access to care, when they lose access to medication, and when, as in this case, they may be separated from family members who have been providing care. So, that’s an acute issue that probably requires more attention than it has received.
Second big area, obviously, are the—is the general population, which—for which, now, all the attention is focused on, as it should be, acute trauma, food, shelter, trying to find a safe environment for these people so that they don’t become prey to infectious diseases, to starvation. As time goes on, we worry more and more about the mental health consequences of any sort of trauma like that, and that includes, here, the people who have experienced massive loss, sometimes are at this point experiencing tremendous fear because of the unknown, the inability to plan, and for many people the sense of helplessness, which we know is a real set-up for problems that come later. The most classic one is post-traumatic stress disorder, PTSD, but depression and many other mental health consequences—this particular population, because of poverty, because of other losses in the past, one might think would be immunized against that, but there’s no reason to presume that.
Balintfy: Dr. Insel says the third population is the first responders.
Dr. Insel: These are people who—many of who have not seen this level of destruction or horrific suffering before. And it tends to be overlooked that those people who you expect to be on the front lines, to be able to do the most good, are also often people who are subject to feeling the psychological impact of the trauma.
Balintfy: Dr. Insel adds that waves of mental health needs will come in coming weeks, months and even years. To minimize the impact, he says, things can be done right now.
Dr. Insel: The first group, those that are in acute need of medication and of care, that is going to have to be dealt with just the way we would with physical injuries. Somebody has to get to those—often children, but sometimes adults—and make sure that they get access to the very thing that was keeping them going before.
The second piece of this that, you know, with a large population, which is at risk, requires what we would call resilience building. And you know, we tend to focus on the risk here of developing psychiatric disorders as a result of the trauma. Important to remember that even though everybody is traumatized, most people are tremendously resilient, and will be able to recover. They will have sleepless nights, they will have tremendous waves of fear, they will have intrusive thoughts and nightmares, and yet they will get better. They’ll recover. But there is some fraction that will not.
Balintfy: Dr. Insel says for most of the population, social support, making sure that people don’t become isolated from familiar things, whether that’s religion, a job, or just being part of a family group is needed. But Dr. Fauci points out, a very real challenge facing Haiti is the massive destruction of homes and buildings preventing people from going back to where they live.
Dr. Fauci: So you have to start very, very quickly, getting up housing quarters for individuals, be they trailers, be they tents, or what have you. The diminution of the risk of the conditions that lead to the types of infections that we’re discussing is going to be directly related to how quickly you get these facilities up for those individuals.
Dr. Insel: One of the things that you see in an environment like this is the loss of the sense of the future, and that is one of the most traumatic aspects. We don’t often think about this, but for all of us, being able to plan and to be able to have a future that has a structure to it and a predictability to it is one of the anchors that we use to be able to cope. That anchor has been removed for many, many victims of this earthquake, and so finding a way to put that back in place as soon as possible is one of the things that will help people to overcome this psychologically.
Dr. Fauci: One of the things that this tragedy, this terrible tragedy that has befallen the people of Haiti, particularly the people in the Port-au-Prince area, would be to have the world realize the difficult conditions that were there, even before the earthquake, and not only repair the damage of the earthquake, but make it a place that’s much, much better than it was before the earthquake. I think that could be something that would, in some respects, have a silver lining to all of this.
Balintfy: Thank you Dr. Fauci and Dr. Insel. For more information on infectious diseases, visit www.niaid.nih.gov. For details on mental illnesses, visit www.nimh.nih.gov. And to learn more about HHS relief and support activities in Haiti, visit www.hhs.gov/haiti. And that’s it for this episode of NIH Research Radio. If you have any questions or comments about this program, or have story suggestions for a future episode, please let me know. Best to reach me by email—my address is jb998w@nih.gov. Hope you’ll join me again on Friday, February 12th when the next edition will be available for download. For now I'm your host, Joe Balintfy. Thanks for listening.
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