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Interviewer: Age-related macular degeneration is a leading cause of vision loss in adults in the United States. The effects on the central vision caused by this disease can significantly impact your life, including the ability to do daily activities, the things you enjoy, and it could also lead to a loss of your independence. However, the good news is, if caught early, the progress of the disease can be slowed.

Dr. Monika Fleckenstein is a professor of ophthalmology and vision sciences at the Moran Eye Center. She's a retina specialist with an emphasis on this condition. Dr. Fleckenstein, let's start with what is age-related macular degeneration. What's going on?

Dr. Fleckenstein: Yeah. So age-related macular degeneration, and we usually say AMD, this is a disease in the back of your eye, and it causes that your central vision may get worse over time. As the name says, the most important risk factor is your age, where you cannot do a lot about it. But we also know other risk factors, which is, for example, smoking or unhealthy lifestyle. And we also know that there's a strong genetic component in this disease.

Interviewer: You called a . . . it impacts your central vision. Is that what you said? Explain what that means.

Dr. Fleckenstein: Yes. So if you look at a paper and try to read, you do this with your very central vision. So this is the area of sharpest vision. This is an area in your eye which we call the macula. And the very center of this macula is the fovea. This is actually the area of sharpest vision, and this is the area you need for reading, for recognizing faces. So this is the highest resolution in your eye.
How Age-related Macular Degeneration Impacts Daily Functioning

Interviewer: I want to know how age-related macular degeneration impacts people's vision in their daily functioning. Talk to me about that, from what you've seen with your patients.

Dr. Fleckenstein: We have different stages of age-related macular degeneration, early stages where you may not experience any symptoms, and then we have the later stages of the disease that you may develop a grayish area in your central vision. In certain subtypes of the disease, you may even develop a central dark area where you're not able anymore to recognize faces or read.

The symptoms patients experience is dependent on their disease stage, but usually, when I see patients with earlier stages, I actually ask them, "Do you have difficulties in dim light?" And so when you go to a restaurant and if you try to read the menu and the light is dimmed and maybe candlelight, this is actually where the patients realize first symptoms. Then also, when they come from bright light outside entering a room, and they may realize it takes them longer to adjust to these changing light conditions as before in their life or compared to the people they are surrounded by. So these are typically the first symptoms of the disease.

And so in later stages, when there is the real damage of the cell layers, the photoreceptors, patients may experience that they have difficulties to read. In very late stages, patients may even not be able anymore to recognize faces. And this is probably, you know, the end stage of the disease where they are not able anymore to read or recognize faces.
Early Detection of Age-related Macular Degeneration

Interviewer: And the importance of early detection in age-related macular degeneration, it's pretty critical, from what I understand. Can you expand on that?

Dr. Fleckenstein: Most sad situations are those where patients have the wet stage and did not receive treatment, and then you face a stage where treatment is not possible anymore or is not really effective anymore if patients have developed scar tissue. And this is why it's so important that if you realize symptoms, never hesitate to reach out to your doctor and ask to have a look.

And when I'm seeing actually my patients with earlier stages of the disease, I explain to them the symptoms of the later stages and tell them, "Please never hesitate to contact me and my team if you experience these changes." And I even tell them it's, you know, "Even if you do not have these specific changes, but if you have a weird gut feeling, please reach out," because sometimes, you know, patients just experience something is off, something is weird here. I cannot really say what it is. Never hesitate. Try to be seen by an ophthalmologist just to make sure that nothing is going on.

Interviewer: And if it's caught early, there are some things you can actually do about it. Tell me about that.

Dr. Fleckenstein: In the earlier stages of the disease, there are certain constellations or certain findings in the back of your eye where we would recommend that you take certain nutrition supplements. So it has been shown in a large clinical trial, the AREDS study, that a certain combination of supplements may delay the progression to late stages, but just if you have a certain constellation of the disease. So the study has also shown that just taking these supplements without having any sign of AMD will probably not have a positive effect. But if you have certain signs, it has been shown that the disease may be slowed down.

In general, we would always recommend, but this is more or less a general recommendation to the whole population, to have a healthy lifestyle, not to smoke. And actually Mediterranean diet has been shown, not only in age-related macular degeneration but also in cardiovascular diseases, that this can be beneficial to prevent the development of macular degeneration and also of the late stages. And Mediterranean diet, this means vegetables, fruits, olive oil, fish. So more a combination of nutrition into this direction.
When to Get Checked for Age-related Macular Degeneration

Interviewer: So since catching it early is so crucial, how often should somebody actually get their eyes checked for macular degeneration?

Dr. Fleckenstein: Yeah. So this really depends on age. So the American Society of Ophthalmology, they actually recommend to have an eye check when you become 40. Then it highly depends if your ophthalmologist finds anything, if you have any signs of a disease in the back of your eye. With ages of 65, we would recommend yearly eye exams. But of course, if you have a positive family history for age-related macular degeneration or if you have certain risk factors, I would recommend to be seen by an ophthalmologist more often and even in earlier ages.
Diagnosing Age-related Macular Degeneration

Interviewer: And in the diagnosis part, are you able to diagnose the disease? How far in advance before a person starts experiencing symptoms are you able to diagnose the disease with the equipment you have?

Dr. Fleckenstein: So we can see on a micron level changes in the back of the eye. Within the last decades, we have seen such a rapid improvement on resolution. And again, we can see tiniest changes in eyes. We indeed also see patients without any symptoms who are not aware of having any problems, and we may pick up earlier signs of the disease, and we can certainly see if macular degeneration is present or not.

Interviewer: That peace of mind is probably great for a lot of patients when you tell them, no, that's not it, that's something else.

Dr. Fleckenstein: Yes. But, you know, I tell my patients as well, as the time has changed so much and we have these dynamics right now, having the diagnosis of AMD today is something completely different than 20 years ago.

Interviewer: And why is that?

Dr. Fleckenstein: Because first of all, I believe within the next 10 years, you know, we will have more treatments available, and for the wet late stage where everyone is so scared about, we have wonderful treatment available, and this treatment really works well. And I always say I have respect for the wet late stage, but I'm not scared of it anymore because if this is treated well, patients can keep their vision for many, many years.

Interviewer: It used to be 50. Now it's 45 and there's a good reason for that. Huntsman Cancer Institute and University of Utah Health says more lives can be saved if men and women who are at average risk of colorectal cancer get screened at 45 instead of 50 years old. Dr. Priyanka Kanth is from Huntsman Cancer Institute. Why the change? What happened?

Dr. Kanth: Over the years since mid-'90s to early 2000, we have noticed an increased risk, increase incidence, and mortality. Actually both. So increased cases and people dying from colorectal cancer. And that was the main reason people started looking into it, researchers started looking into it and came up with this studies, modeling studies. And that's why this recommendation was changed.

Interviewer: Yeah. And the reason that's so important is because unlike other disease that perhaps might show symptoms, and then you would go get treatment. That's not how colorectal cancer presents. It really is screening is the best way to save lives.

Dr. Kanth: Absolutely. You're very right about it. So most of the early onset cancers or any colorectal cancer, early stages do not produce symptoms. Polyp usually starts with a polyp, which is a little bump in the colon and it changes into colon cancer. These polyps do not produce symptoms and they grow slowly, and you will never know you have one. So that's the biggest problem with colorectal cancer. And by the time you have symptoms, it's fairly late. So screening is the best strategy to prevent this cancer.

Interviewer: And this new research has just really shown that people between 45 and 49 because catching it early is the best defense that a lot of good can be done by having it at 45.

Dr. Kanth: Absolutely. Absolutely. There are certain research which has shown that there was a drastic increase even between age 49 and 50. So one study showed that there was an increase of almost 46% between age 49 and 50. So if we decrease it from 50 to 45, we are really hoping to capture that colon cancer patient. And this would be very, very beneficial between that age group.

The other thing I would like to say that this is also an incentive, an added benefit to increase screening from age 50 to 55, 50 to 54. But traditionally, it has been on the lower side if you do it from 50 to 75. There's slightly decreased screening rates in screening uptake between age 50 to 55. So this will help patients who are thinking about it at age 50, but did not get it till age 55. Now they're like, "Oh, you have to get it done at 45, let's get it one at by age 48." Something like that. So this will be very helpful at that point.

Interviewer: Is there a perception that colorectal cancer is an older person's disease?

Dr. Kanth: Yes. I think a lot of us, a lot of our patients in general public we think cancer is an old person's disease, especially colorectal cancer. That's not the case anymore. This is still true. Most colorectal cancer will still be diagnosed when you're older, but there has been a rise in patients who are younger than age 50. Some of it is because of genetic causes, but the rise has been in the average risk. So this perception should be changed. We should consider 45 as new 50 to start screening now.

Interviewer: And really that number, age 45 is the most important number. It's not do I have a family history? It's not do I have symptoms? It's not am I a man or a woman and think I'm less likely to get it. Really as soon as anyone hits that age of average risk of 45, that's the trigger you should go get it checked.

Dr. Kanth: Absolutely. Very correct. So 50 was . . . the same recommendation was for anyone, any gender, male, female. Any person who hits 50, you should get a colonoscopy. Now that has changed to 45. So it doesn't matter if you have symptoms, you should get it checked, especially if you don't have family history. If you have family history, that's a different story. If you don't have family history or average risk, please go get checked at age 45.

Interviewer: How is this going to impact those that do have an increased risk? Not an average risk, an increased risk? Does that also drop their age that they should go in down or do we know?

Dr. Kanth: So, at this point, if you have a family history, we usually start screening early. Most of the time we start screening at age 40. Or if somebody had colon cancer, I'd say whatever age, 10 years before they had colon cancer. So that may not change so much. It's possible we can look at the data and that may change again, but at this point, this recommendation is only for average risk. So family history is a different cohort of patients. That is still a very good point for primary care physician for all of us to ask that history from patients, "Do you have a family history of colon cancer?" Because your risk might be very different from the average risk.

Interviewer: So have that conversation if you're above average risk with your physician, your provider is whether or not you should get it earlier.

Dr. Kanth: Absolutely. Yes.

Interviewer: All right. And for the recommendation, is a colonoscopy okay? The home stool test, is that impacted by this age going down to 45?

Dr. Kanth: The best screening is the one that gets done. So that's another message which has to be delivered by providers. Colonoscopy is not the only screening test. Colonoscopy is gold standard because you can see the polyps you can remove it before it turn into cancer. But there are other very, very good stool tests which can detect colon cancer easily. They are non-invasive, you stay at home, you don't have any logistics around it. And those are good tests to be done. So that's a big message which everyone should know that colonoscopy is not the only way to detect cancer. There are other very good stool tests, which everyone should consider. If you're declining colonoscopy for any reason, do go for a stool test.

Interviewer: So if it's a stool test or if it's the colonoscopy, it doesn't matter. Average risk needs to be 45 now.

Dr. Kanth: Absolutely.

Interviewer: All right. And also, I understand with the new recommendation that Medicare, Medicaid, and also your commercial insurance will cover either one of those screenings starting at 45.

Dr. Kanth: That is correct. And that's what we believe after the new recommendation which has been endorsed by pretty much all the societies that all these should be now covered under preventive care just that how we had it at age 50. Even now, some insurances are already covering at age 45, but that was more sporadic. So now we expect this to be 100% covered.

Interviewer: We're with Dr. Stephen Fenton. He is the founder and director of the Utah Fetal Center at Primary Children's Hospital. And it is for women who have high-risk pregnancies due to a congenital anomaly with the child. There is kind of a way things used to be done. And now there's a way things are done at the Utah Fetal Center, Primary Children's Hospital, which is a much better way. Dr. Fenton, first of all, you're the founder and the director. You came in and you said, "I want to start this center."Why did you say that?

Dr. Fenton: I don't want anyone to ever think or believe that what was happening before wasn't being done to the best of its ability because it certainly was. All of these conditions were being cared for before. But the reality is it was kind of done in what I would term a physician-centered approach. So oftentimes that would require multiple clinic visits because they were separate clinics in each of the physician's clinics. And you can imagine how frustrating and how hard that must have been for that mom to kind of shoulder that burden all on her own.

Interviewer: It was a very stressful time.

Dr. Fenton: Very stressful time.

Interviewer: Just to coordinate her care kind of.

Dr. Fenton: I mean, and during all that time, of course, worried about her unborn child. And so what we've done is we've kind of shifted it from this physician-centered care to what I term patient-centered care with a multidisciplinary approach. So we, over the last five years, have put together a multidisciplinary team of all of these specialists that care for the child and for the anomaly. In addition, we've added adult specialists, so maternal fetal medicine or high-risk OBs that care for the mom, all in one place. We didn't have adult providers at the Children's Hospital. Now we have these adult MFM providers who help care for these moms. We also added a coordinator. We've added nurse coordinators that actually help the mom wade through all of this, and ancillary staff, such as a social worker, who can also help with the non-clinical aspects. We are now all in the same place. Instead of being in our individual silos, if you will, we're all located together where we can look at the images together, where we can talk about it, and where we can come up with a care plan not only for the mom until baby is delivered, but also for the child after delivery.

Interviewer: What is the objective of the center?

Dr. Fenton: We want to make sure mom and baby first have the right diagnosis. It's much easier to help the parent learn what the condition is and start understanding what the treatment, if any, will entail before the child is born. Now that's one aspect. The other aspect is some of these kids need intervention before they're born. And in order to do that, it's very specialized. It requires a team and it requires being able to take the mom to proper diagnosis and from diagnosis to intervention, and then from intervention to delivery safely. And you can't do that without proper infrastructure, and the Utah Fetal Center is that infrastructure.

Interviewer: Can you give me an example of a couple of the common conditions that you would require that would require this multidisciplinary team?

Dr. Fenton: Congenital diaphragmatic hernia is one that comes to mind, myelomeningocele, that's another word for spinal bifida, CPAM or congenital pulmonary airway malformation also known as congenital lung lesion, atresias, intestinal atresias, omphalocele, gastroschisis. These are all things that are surgical too. We oftentimes see kids that don't necessarily require surgery. So some of the genetic disorders like trisomy 21. We also see kids that have neurologic issues, so brain malformations that won't necessarily require intervention, but will require a coordinated care with multiple providers.

Interviewer: What does that initial consultation entail when they come to you? What does that look like?

Dr. Fenton: In the morning, they oftentimes will undergo an ultrasound and consultation with one of the maternal-fetal medicine physicians that work at the Utah Fetal Center. Dependent on what the original diagnosis is, and oftentimes we have already received outside imaging from the referring providers and reviewed it, they might also undergo a fetal MRI, and that fetal MRI will give us even more detail, especially when we can compare it to the ultrasound that happens on that same day. It's read by the fetal radiologists that work in the center. And then usually we give them a little bit of a break. They go to lunch, etc., and then come back in the afternoon or early afternoon, and there, they will see the specialist, the sub-specialist that will ultimately care for their child.

Interviewer: If a patient wasn't referred and they believe that the Utah Fetal Center is the place that they would like to go, are they able to call?

Dr. Fenton: Absolutely. They can go to our website, utahfetalcenter.org and self-refer. We really want to help these parents get through this very, very difficult time. We understand that there are a lot of providers out there that are doing a portion of this, and we certainly appreciate all that they are doing. We are not looking to just assume all care of these moms because we know that a lot of their care can be delivered close to home, but we do feel like it's very, very beneficial to start that coordination of care early so that we can help the parents understand what is happening, obtain expectations on the treatment plan, as well as understand the treatments involved and then initiate that plan early, and in the long run we know that doing so with the help of the many providers, not only here at the University of Utah and Primary Children's Hospital, but across the state will allow us to do that.

Dr. Jones: With respect to breast cancer risk, smaller breasts doesn't mean less. All breast sizes need mammograms. Women with different size breasts have ideas that breast size may affect the risk of breast cancer and the need for screening mammograms.

Well, breasts are different, and here to unravel some of the issues for us is Dr. Helen Mrose, a specialist in breast imaging and a radiologist here at the University of Utah. Welcome to The Scope studio, Dr. Mrose.

Dr. Mrose: Thank you for having me.

Dr. Jones: Okay, so when it comes to breast cancer risk, does size matter?

Dr. Mrose: Actually, no.

Dr. Jones: Okay.

Dr. Mrose: Size does not matter. People with small breasts and large breasts get breast cancer in equal frequencies or so we think.

Dr. Jones: Right.

Dr. Mrose: There are many things that matter having to do with breasts, including whether the breasts are dense or not, but that doesn't necessarily have a lot to do with breast size.

Dr. Jones: Oh, good.

Dr. Mrose: That's something we inherit.

Dr. Jones: Or we grow postmenopausal women, it turns out who gain weight after menopause, which happens. It's not uncommon for postmenopausal women, it's breasts that get larger, or for women who go on a diet and lose a lot of weight for their breasts to get smaller.

Dr. Mrose: Correct.

Dr. Jones: So there's some changes that go through in a woman's life.

Dr. Mrose: That's absolutely true. The breasts are composed of basically just two things -- fat and what's called fibroglandular tissue. And it's the fibroglandular tissue that is what's called dense. And for some reason, some people have very little fiber glandular tissue and some people have lots of it. And that has been found to be associated with breast cancer risk, but you're born with that or you develop when your breasts developed. You have a certain amount of that fibroglandular tissue, and you're absolutely right when the breasts get bigger, which they tend to do when people get older and they gain weight, they get more fat. But that's not known to be associated with breast cancer risk specifically.

Dr. Jones: So when it comes to early detection of breast cancer, does size matter in terms of how you do the mammogram or whether the mammogram is good at picking up cancers?

Dr. Mrose: Hopefully, not.

Dr. Jones: Oh, that's what I want to hear. Doesn't matter.

Dr. Mrose: Of course, when someone's breasts are very small, or if they're very large, it's more challenging for the technologist. We do have different size compression paddles to accommodate different sizes. And one thing that really matters is the skill of the technologist who's performing this study. And many people think it maybe it doesn't matter. It's just like snapping a chest X-ray. But doing a mammogram is quite an art that technologists who perform this are specially trained, they have to go through quite a bit different training than a regular X-ray technologist. And they have to keep up a certain number that they do and take exams. And they need to be supervised by people like me, who are the people who are watching the quality of their work and making sure that they're doing an adequate job. It's difficult to include all the breast tissue on the mammogram.

Dr. Jones: Well, here in the studio today, we have breasts of different sizes. And we won't use names, of course, because that would be HIPAA. But clearly, people with larger breasts to get all of the breast into it means you have to squeeze hard and squeeze all of it. So women who are large breasted tend to think that their mammograms hurt more, and people who are small breasted think that their mammograms hurt more. And I'd say hurt is all up to the person in this not up to the breast size. What do you think about that?

Dr. Mrose: That is true. It can be very painful or not painful at all. And a lot of it has to do with expectations, I think. A lot of it has to do with the skill of the person who's performing the examination. Because I think everyone having a mammogram feels some kind of stress because it's a test for cancer. It's one of the only tests that we do that's the only question is, is there cancer there? So of course, that's stressful.

But some people do not feel much discomfort. And it only lasts for a few seconds. The compression, which is what you're talking about that can be uncomfortable is really important for a number of reasons. The thinner we can get the breast tissue, the less radiation is necessary to produce the image. And this is really important, but also the thinner the tissue, the more detail we get by a lot, and the more things are spread apart, which is very important for our detecting things.

But when you ask a question about the size of the breast, when people have fatty breasts, which you can't tell by how they look or feel or even the size, they are easier to read, because we're looking for white things on the black background. Fat is black. When people have dense breasts, they have a lot of white background. And so we're looking for white things that might be hiding in amongst other white tissue. And therefore that compression is so important. We're spreading things apart so we can see those little white things.

Dr. Jones: Well, I tell women who, particularly women who've had labor, that it's nothing like a contraction. And if they can count to eight slowly, it's not going to last longer than eight seconds. Usually, by the time they really start cranking it down, and maybe we can all handle something, just a slow count to eight would get you through it.

Dr. Mrose: We can. And breast cancer is much more painful than having a mammogram.

Dr. Jones: Right.

Dr. Mrose: So I do encourage people, if we can find something early, or even in the pre-cancer stage, that that is a lot less painful.

Dr. Jones: That's a good way to put it.

Dr. Mrose: Yeah.

Dr. Jones: You know, we've heard a lot more about digital mammography and mammography, this and mammography that. I've told my patients it was always important to go to a center that had their radiologists on-site looking and supervising and did a lot of mammography. But are there any particular kinds of mammograms that are important?

Dr. Mrose: The most modern technology that we have is called 3D mammography or tomosynthesis. And this is a digital mammogram, but rather than just producing a 2D image, there are several slices, one-millimeter slices of tissue. So that we can page through the tissue like on a CAT scan or an MRI and see much, much more detail. It's actually incredible how much more detail we get with a 3D or tomosynthesis mammogram than with regular 2D.

Dr. Jones: So the patient isn't actually turning around in a 3D, you know . . .

Dr. Mrose: No.

Dr. Jones: . . . scanner. It's just the way that computer takes the image. That process of for the woman of having the image taken it's the same, but it's the way that computer takes the data.

Dr. Mrose: The machine is very similar, except the tube head where the X-ray is coming from actually moves. The woman doesn't move. She's just in compression, but the tube is making an arc so that it's taking images at different angles, just like in a CAT scan. That then can be synthesized with the computer to make the one-millimeter slices.

Dr. Jones: So do insurances pay for 3D mammograms?

Dr. Mrose: Absolutely, they do.

Dr. Jones: And is that what we normally do here at the U at the University of Utah?

Dr. Mrose: Most of our sites at the University of Utah are 3D. Certainly the Huntsman is all 3D.

Dr. Jones: That's great.

Dr. Mrose: Everyone is a specialist in reading mammograms, and that's something that is also important.

Dr. Jones: Well, so when do you recommend starting mammograms?

Dr. Mrose: I recommend for someone who's that average risk. What I mean by that is someone without a strong family history of breast cancer or known gene mutation that's associated with breast cancer. I recommend starting at age 40, and doing it yearly. And I know there's a lot of controversy about that. But the reality is all women are at risk for breast cancer. The majority of cancers that we find are on women without any known strong risk factor. And this means that having a discussion with your doctor about whether you should have a mammogram at 40, or how often is almost meaningless because everyone is at risk.

Dr. Jones: Think that's an important point because many women say, "Oh, I don't need to be screened because there's no breast cancer in my family." And I say only 5% of breast cancers are familial.

Dr. Mrose: Right.

Dr. Jones: The rest are still gene, you know, mutations, but only 5% of breast cancers are familial. And the rest is a DNA mutation that's made a cancer, but everybody needs to be screened. Well, so when do you recommend stopping screening?

Dr. Mrose: Well, since other than being female, which is the strongest risk factor for breast cancer, age is the strongest factor after that. When you hear the statistic that one in eight women will get breast cancer, that is actually not correct. It's one in eight women who reach 80 will get breast cancer, and that's very different. So what is important is if a woman is healthy, if she has a life expectancy of at least 5 to 10 years, I would say she should continue mammograms indefinitely.

And I have a 94-year-old mother who's healthy, plays pickleball every day. And I think she should have mammogram not because if she had cancer, we would do something aggressive. But I would have them take it out, which is a very straightforward procedure under local anesthetic, which would keep her from going on to develop something that would be very painful.

Dr. Jones: Well, I consider it a chance to go out, get out of the house and go out for lunch. So I think having a mammogram is a reason to meet with your friends and you know, have somebody take you or go with you and party a little.

Dr. Mrose: Many women do that. I had a group of friends from college who all came together in the . . . they called it the mammo van, and they would all come together and then we will all go out to lunch.

Dr. Jones: Well, although some recommendations about when to start and when to stop are still . . . you may hear different things. All women do need to be screened no matter what size they are. And Dr. Mrose, thanks for joining us with this and thanks for all of you listening on The Scope.

Dr. Miller: Thin bones and the risk of fracture and what to do about that. We're going to talk about that next on Scope Radio.

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Dr. Miller: I'm Dr. Tom Miller and I'm here with Dr. Nick Spina, and he's an orthopedic surgeon here at the University of Utah, in the Department of Orthopedics. He's an expert in spine care. Nick, how do you get a fracture when you have thin bones or osteoporosis? What happens? Where do they occur typically in the back? Tell me about that. It's a lot at risk.

Dr. Spina: Yeah. Osteoporotic compression fractures or what we call fragility fractures are probably the most common fracture we see in spine surgery. It tends to be on the more elderly side of the population.

Dr. Miller: At the time when we lose our bone mass.

Dr. Spina: Exactly, at the time when we lose our bone mass. So I'd like to describe them to people to imagine a soda can or a pop can. And each patient's vertebral body is like a pop can. So it has a hard rim on the top and a hard rim on the bottom, and the center part of the can is relatively empty. As we age and we get osteoporosis, the center of the can becomes even more empty. And so, as we stress the top, the can eventually cracks and crushes where our end plates become closer together or the ends of the can become closer together.

Dr. Miller: And so, what happens to precipitate that fracture? My understanding is they could just happen spontaneously if your bone density is so low.

Dr. Spina: Right. Depending on the degree of your osteoporosis or the degree of the strength of your bone, it can happen with just minimal activities such as waking up from sleep, standing, walking. They are commonly precipitated from falls, so patients often come in after a fall from standing or a fall during gardening, or routine activity around the house where they develop an acute onset of back pain.

Dr. Miller: Or one of the favorites from my patients would be shoveling snow.

Dr. Spina: Exactly. It seems no one should shovel snow anymore. That's pretty much a general rule.

Dr. Miller: So what happens? Do they have pain typically after that?

Dr. Spina: So the most common presenting symptom is acute back pain. Some of the worst pain you've had in the center of your back. It tends to be localized to the midline or right in the middle. Our muscles also become very inflamed, so it can radiate out towards our rib cage. It tends to be in the mid portion of the back. For women, right around their bra strap, and for men, kind of in-between the shoulder blades.

Dr. Miller: Now, you would find more osteoporotic fractures in women, I would think, right?

Dr. Spina: It does.

Dr. Miller: Osteoporosis is more common in women.

Dr. Spina: It's more common in women. So we do tend to see more osteoporotic fractures in elderly women versus men.

Dr. Miller: So, aside from analgesics, pain killers, that type of thing, what can you do to alleviate the pain or help with the pain?

Dr. Spina: So we sort of take a two-tier approach. One is a reduction in activities and modification of daily living, to avoid those activities such as heavy lifting, bending over at the waist, stressing the spine by bending forward or twisting. And the second would be we occasionally use a brace to provide an external support, kind of external crutch you can think of to keep the spine upright or support it while a bone tends to heal in that compressed manner.

Dr. Miller: What's this brace look like? Is it corset?

Dr. Spina: Yes. It tends to be a corset. It kind of looks like a turtle shell, hard in the front and hard in the back, and it wraps around your torso.

Dr. Miller: And usually, how long would a person have to wear that for that to work?

Dr. Spina: We tend to use them for about two months. And then, we tend to wean out of it because as we put people in braces, their muscles, obviously, become weaker. And having good muscular strength is one of the ways we compensate for having fractures. And so we don't cut them cold turkey. We often ask people to slowly come out of them and wear them when they're upright or up for long periods of time, and then remove them when they're sleeping or sitting.

Dr. Miller: Now, tell me a little bit about what's call kyphoplasty. I understand there's a little bit of controversy about the use of this technique and has been for a number of years.

Dr. Spina: So kyphoplasty and vertebroplasty were very common about 10 to 15 years ago. They sort of exploded in the world of spine surgery. And the procedure itself is directed at restoring the height of that pop can. So what we do is . . .

Dr. Miller: So this maintains height in the patient. So the concept, I guess, was if you increase the height of the crushed pop can, then the person wouldn't lose height.

Dr. Spina: Exactly. And so we insert a probe from the back of the spine into the front, the vertebral body. And there are two different means. One, we use a balloon to try to restore the height of the body. And the second is we just inject a material to try to restore the height. And the bottom line is that we take the empty space in the vertebral body, that space that's crushed down, and we try to stabilize it and if not, restore it by putting cement in the front of the vertebral body.

Dr. Miller: So what is the controversy surrounding this technique?

Dr. Spina: So there have been a couple large studies that have been done, that have looked at patients who have not had vertebroplasty or kyphoplasty and who have, and they haven't shown much of a difference as far as long term outcomes. So, in my practice, we tend to reserve them for those patients with intractable pain after about six weeks of non-operative care.

Dr. Miller: So they have some role in alleviating pain if it's not treated with the standard sort of non-interventional means that you just spoke about a few minutes ago?

Dr. Spina: Exactly. In those patients out of refractory which are very, very few in my practice, tend to see a little bit of benefit from doing a kyphoplasty. But again, we tend to reserve that to those people that fail all the non-operative means which we start with in the beginning.

Dr. Miller: The other point would be that if a patient has osteoporosis, they should also be treated for that with one of the newer medications. I should say newer. The medications have been around now for 10 years, and there's new medicines coming out all the time.

Dr. Spina: Exactly. One of the biggest risk factors for vertebral body compression fracture or fragility fracture is having a previous fracture. So it's our routine practice when we identify these patients to make sure that they have a pipeline of care through either us as treating providers or their primary care physicians to check their bone quality through a DEXA scan and address the degree of osteoporosis that they have.

Dr. Miller: Screening becomes very important in this age group, especially women over 65 years of age.

Dr. Spina: Exactly. Screening is probably the best form of prevention for these fractures that we have.

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Dr. Jones: The modern intensive care nursery is a medical miracle. Over the past 30 years, our ability to help very premature babies survive has increased dramatically, but we haven't made any headway in preventing preterm births. Why? And what can we do about it? This is Dr. Kirtly Jones from Obstetrics and Gynecology at University of Utah Health Care, and this is The Scope.

Announcer: Covering all aspects of women's health, this is "The Seven Domains of Women's Health" with Dr. Kirtly Jones on The Scope.

Dr. Jones: The U.S. leads the developed world in rates of premature births. In Europe, the rates are about 8% to 10%. In the U.S., 12% to 13% of births are premature. So let's say 1 in 10 of babies are born prematurely. That's a big number.

Premature birth is defined as birth before 37 weeks. Of course, a baby born at 37 weeks minus 1 day is a pretty big baby that does usually quite well. Babies born at 34 to 36 weeks are called late preterm. Although they do pretty well, they can still have some difficulties. There have been big efforts in the U.S. to decrease the rates of late preterm births. The most successful of those efforts are to make sure that the moms and their doctors are careful about electively delivering babies early, meaning, don't deliver them early either by caesarean section or by inducing labor just because it's convenient.

Babies born at 32 to 34 weeks are called moderately preterm. Babies born 28 to 32 weeks are said to have severe prematurity. And babies born before 28 weeks are said to have extreme prematurity. Neonatal nursery costs for a baby born before 28 weeks can be about a quarter of a million dollars compared to less than $1,000 for a baby born at term.

I must say, in my professional life, I've contributed to the rate of preterm births in Utah. As a specialist in infertility who does in-vitro fertilization, I have contributed to the creation of my share of twins and triplets, and a couple sets of quadruplets. Part of the increased rate of prematurity in the U.S. is the way we do in-vitro fertilization. In many countries in Europe, IVF is paid for by national health insurance. But the rules are that only one embryo is transferred in young women who are likely to get pregnant. In the U.S., we have guidelines, but there are no legal rules about how many embryos to be transferred.

We all remember the octo-mom who gave birth to eight babies from IVF. We tried very hard to encourage our couples to transfer only one embryo because of the risk of twins. But many couples really want to become pregnant and they think that twins would be just fine. We do try to educate and convince, but often, couples want two. And with the young couples, putting two embryos back that are good quality puts the risk of twins at about 50%. And about 50% of twins are delivered prematurely. Okay, I got that off my chest and offered full disclosure.

Now, let's think about some other causes of prematurity. The number one risk of prematurity is having had a previous premature birth. Women know that risk before they get pregnant again so we should make sure that the next baby doesn't come too soon. About two to three years from the last pregnancy gives the best chance for the best baby. For women who have had a preterm birth that wasn't because of multiples, we can offer a natural hormone called progesterone during the next pregnancy that can decrease the risk of the next baby being premature.

There are a number of conditions in the mother that can increase the risk of prematurity. Cigarette smoking, excessive use of alcohol and other drugs of abuse, can increase the risk of prematurity. Obesity, social instability and intimate partner violence are also a few conditions that increase the chance of having a premature baby. With this in mind, we should give women all the opportunities to have babies when they have good health habits, a healthy weight and social stability. This means offering counseling and contraception for women whose babies would be healthier if their moms were a little healthier.

There are health conditions that can cause problems with pregnancy and with health, the mom, that can increase the chance that a mom might need to be delivered early. Diabetes and hypertension are two. Women with medical problems can seek pre-conceptual counseling so they can get their illnesses under control and be on medications that don't harm a baby.

There are structural conditions that can lead to premature birth. Structural problems with the uterus, such as uterine fibroids that push on the uterine cavity where the baby grows. Or women who were born with an abnormally shaped uterus. Women who have had operations on their cervix to treat an abnormal pap smear may be at an increased risk for having a preterm birth. Women with cervical or vaginal infections, such as chlamydia or bacterial vaginosis, may be at increased risk for a preterm birth. Many of these conditions can be treated or improved prior to getting pregnant.

Lastly, sometimes we just don't know why babies come early. We do our best as obstetricians to slow preterm labor and to give moms medications that can help their preterm baby's lungs be stronger. If we know that a woman has had a previous preterm birth for no good reason, we can try progesterone. But still, we depend every day on that miracle I call the neonatal intensive care unit to do their magic and grow our little, tiny babies when our moms can't. Thanks for joining us on The Scope.

Announcer: Thescoperadio.com is University of Utah Health Sciences radio. If you like what you heard, be sure to get our latest content by following us on Facebook. Just click on the Facebook icon at thescoperadio.com.

Interviewer: The Super Bowl and heart attacks: is there really a risk? We are going to find out from cardiologist Dr. John Ryan, next on The Scope.

Dr. Ryan, I've seen news stories, I'm sure our listeners have seen news stories, I even did a Google search because the thought of somebody having a heart attack during the Super Bowl seems kind of crazy to me. Really, does this happen? Is it a common thing or a rare thing? But there's some research out there that says that it really is possible. Is that true?

Dr. Ryan: Yeah, so it is a recognized risk, namely that's the Super Bowl and this has been shown in several studies the time of the Super Bowl is a high-risk time for heart attacks or a higher risk time for heart attacks. It's also been shown in the World Cup, in the soccer World Cup, there has also been shown that there is a higher risk of heart attacks around this time. It seems, in particular, in cities hosting the Super Bowl and in the cities whose teams are playing in the Super Bowl it seems to be higher. So when there's an investment in the game, it does seem to be higher as opposed to other cities that either aren't hosting or don't actually actively have a team in the Super Bowl. And this is, again, the same with the World Cup.

However, when you look at the people who have heart attacks during the Super Bowl, they're already at higher risk of having heart attacks. So they are typically folks who have high blood pressure, maybe a history of heart disease, a history of smoking, a history of high cholesterol, and then the stress and circumstances surrounding the Super Bowl event can be a trigger towards that cardiac event.

Interviewer: So if you've been told by your doctor that you are at a high risk of a heart attack and your lifestyle kind of reflects that, would it be the equivalent of going out and trying to run a marathon?

Dr. Ryan: Yeah. That's a good analogy, yeah, that's a good analogy.

Interviewer: Because I don't think that people watching the Super Bowl and having some wings and beer would be like running a long-distance race.

Dr. Ryan: Yeah, that's a good analogy. Again, it's all about you're introducing more stress onto your cardiovascular system and into your life and what are the consequences of that stress. One of those consequences of that stress is an increased risk of having a heart attack. So, a lot of times, it's just about stress management and how you deal with stress as well as you've rightly pointed out, it's risk factor modification.

When you look at heart disease in general, it's all about risk factor modification, eating better, not smoking, not drinking as much alcohol, and not getting dehydrated. And these are all things that happen in or around the time of Super Bowl or college game day or workups. When folks bring this up, I talk about my father, during Ireland rugby games, will sit outside in the garden and then when the game is over, he will come in and ask what the result of the game was. And that's his way of modifying his risk. So it's a matter of modifying your risk. Thanks, Dad.

Interviewer: And, as a result, he's been there for you all these years.

Dr. Ryan: Exactly. Exactly.

Interviewer: So if you're worried that you're going to have a heart attack leading into the Super Bowl, you probably need to take a bigger look at . . .

Dr. Ryan: Figure out your coping mechanisms, figure out your stress, what you do for stress and what you're doing for your risk factor modification with your heart disease.

updated: February 9, 2022
originally published: February 3, 2016

Kim: Many cancer cases are caused by random chance. But for the most common cancers, prevention matters. That story is up next.

Announcer: With the latest news and research from Huntsman Cancer Institute, this is the Cancer Care Update.

Kim: A few weeks ago, the headlines blared. Most cancer types, just bad luck. And bad luck causes two-thirds of cancer cases, study finds. Many of the articles gave the impression that a study in the Journal Science by John Hopkins University researchers, showed that cancer as a whole occurs by chance, and it doesn't matter what lifestyle choices a person makes. So were the headlines accurate?

Many cancers are caused by bad luck. That is, when stem cells divide, they sometimes make mistakes. These mistakes can result in mutations that disrupt important genes. Sometimes, very rarely, these mutations lead to disease including cancer. But no, the headlines and news reports were not accurate. Many of them implied that there is no way to prevent cancer. So no reason to worry if you smoke a pack a day, are obese or spend hours roasting yourself in a tanning bed.

According to the American Association of Cancer research, this is wrong. These things do matter. In fact, they say more than half of cancer deaths in the US are due to preventable causes. Dr. Saundra Buys, an oncologist at Huntsman Cancer Institute agrees that the headlines miss the mark. She says the focus of the study really isn't on prevention and lifestyle, but instead is a technical description of how cancer rates vary in different tissues.

Dr. Buys: This is a really interesting study, and the question they set out to try to address is, why do some tissues in the body get a lot of cancer and some tissues get hardly any cancer.

Kim: It has been known for a long time that it is much more likely for a person to get colon cancer than brain cancer. The study was hoping to explain how this type of difference occurs. But the authors of the study, Christian Tomasetti and Bert Vogelstein showed that tissues with stem cells that divide a lot tend to have higher rates of cancer, while those that divide rarely tend to have lower rates of cancer.
On average, a person is 25% more likely to get colon cancer than glioblastoma, a type of brain cancer. The study implies that much of the difference between these rates is due to the fact that colon stem cells tend to divide more frequently than glial stem cells.

Dr. Buys: I don't think this says anything really about cancer being preventable. I think it really just says we can predict the baseline risk of an organ getting cancer. But you can perturb that system and dramatically increase the likelihood of that organ getting cancer in it by lifestyle factors, and genetic factors also dramatically perturb that.

Kim: A person who eats a lot of red meat, doesn't exercise and is obese, can increase their risk for colon cancer. Genetics can also have a large role. Certain mutations in the APC gene can actually increase a person's risk of getting colon cancer to 100% in their lifetime. Some brain cancers on the other hand are not known to be significantly influenced by diet, exercise or genetics, and are more likely to be caused by random mutation.

Dr. Buys: There probably are some cancers that prevention doesn't have that much of an impact on, and those are the cancers that instead of trying to do things to prevent, we ought to be looking at early detection. One of the really interesting things, though, is that the really common cancers are the ones we seem to be able to do something about. So, lung cancer, we can not smoke. Colon cancer, bladder cancer, breast cancer, prostate cancer, we can try to avoid being obese.

Kim: Of course, even with these common cancers, many cases are caused by mutations that occur at random. The problem is we don't know how many or which ones are in this category, and this recent study doesn't tell us that either. The bottom line is that almost anyone can get cancer. But staying healthy and detecting cancer early when it does occur can reduce a person's chance of dying from the disease. For the Cancer Care Update, I'm Kim Shuskey with Huntsman Cancer Institute.

Announcer: For more resources from the cancer care and research experts, Huntsman Cancer Institute, go to HuntsmanCancer.org. The Cancer Care Update is a co-production with TheScopeRadio.com, University of Utah Health Sciences Radio.

Interviewer: A Link Between Methamphetamine Use and Parkinson's Disease, up Next on The Scope.''

Announcer: Examining the latest research and telling you about the latest breakthroughs, the science and research show is on The Scope.

Interviewer: I'm talking with Dr. Glen Hanson, Interim Dean at the School of Dentistry at the University of Utah and Director of the Utah Addiction Center. You've done some researching looking at a long-term and serious side effect of meth use. What did you find?

Dr. Hanson: We were interested in the dependence on drugs, such as methamphetamine and the amphetamines, and we knew -- we've known for quite a while -- that it interacts with that part of the brain that is associated with the neurological disorder known as Parkinson's disease. And from animal studies, our findings suggested that it may lead to Parkinson's disease in humans, and that's what the study looked at. We found that there was a connection between that dependence on these compounds and Parkinson's disease.

Interviewer: So meth use increases your risk for getting Parkinson's disease. How much of an increased risk do you see?

Dr. Hanson: In the general population, it's about a threefold increase.

Interviewer: This increased risk factor for getting Parkinson's disease is one of actually many terrible side effects of meth use.

Dr. Hanson: Correct.

Interviewer: And is this really the first long-term effect that we know of?

Dr. Hanson: It is, that has looked at a neurological piece to it. We know, in human studies, there are changes in some cognitive functions in people who are long-term users, and they find that some of these neuropsych determinants or elements are still compromised in these people, things such as memory. But even these studies typically only go out two or three years, and none of them have asked the long-term question, ''What neurological diseases may happen down the road to this population of amphetamine users?'' These studies are the first ones to show that this long term, maybe ten, twenty years after you've had the amphetamine problem.

Interviewer: So maybe we can back up a second and you can remind us what Parkinson's disease is.

Dr. Hanson: Parkinson's disease is associated with a fairly select group of pathways in the brain that are involved in motor control, and so some of the earliest signs of Parkinson's are things such as tremors, usually hand tremors, the way someone walks, their posture, they tend to become stooped.

Interviewer: And so you were mentioning in the beginning that there's a particular pathway in the brain that leads to Parkinson's disease. You've also shown that, at least in an animal model, that class of drugs can also damage that part of the brain.

Dr. Hanson: So this pathway uses a chemical called dopamine, and dopamine is a big player in mobility, in behavior, in movement. So there is a selected pathway called the nigrostriatal pathway that methamphetamine or the amphetamines damage when they're used continually and they're used in high doses. So the same pathway gets damaged in Parkinson's. A general figure is that if you damage 70% of that pathway, then you start to see signs of Parkinson's disease.
In everybody, that pathway deteriorates over their lifetime, but most of us die before we reach that critical 70%, so the disease doesn't show up. However, if you take a drug like the amphetamines and it pushes you down that pathway, 20% or 30%, that means you're more likely to hit that magic 70% plateau before you die, which means you're going to have Parkinson's because you got pushed down the pathway earlier on because of your drug use.

Interviewer: Getting this information out there, what do you hope that will accomplish?

Dr. Hanson: We would hope that it would educate the population that there are long-term consequences to misusing drugs in general, not just the amphetamines, but other drugs. As we start to discuss things about, "Do we legalize this? Do we legalize that,'' oftentimes we're not asking the long-term questions. We're asking short-term questions, but we don't say, ''Might there be something showing up in 20 years or 30 years?'' Here's Parkinson's, obvious, but what about other neurodegenerative diseases? May they also be linked? Something like Alzheimer's, may that be linked, and some of these other neurological consequences? So we probably need to be looking at that more closely than what we have done in the past.
Now, we focused on the abuse side. That takes you down the road of: 'Well, what about legitimate use, therapeutic use? Are there drugs we're using for long periods of time, and for good medical reasons . . .

Interviewer: Right.

Dr. Hanson: . . . but they may be doing things, should we look at some of these databases and see is there long-term neurological or psychiatric consequences to them that we're not seeing when we just do our short-term studies?

Interviewer: Right, and you did make the point earlier, when we were talking, that methamphetamines are actually in a larger class of drugs called amphetamines, of which there are many kinds, some of which are used under clinical supervision.

Dr. Hanson: Correct. Well, methamphetamine and amphetamine are prescribed. These are Schedule II drugs. But is there consequences? Is there just the dependence situation, where you're using large doses, and maybe you're binging with it and you're injecting it versus therapeutic doses, which are smaller, you're taking them orally, and we need to look at that. My inclination would be I think that there is a difference. Some of the studies we've done in animals say that the brain responds very differently when it's done with therapeutic caution versus when it's done with abuse abandonment, but we need to make sure that that's the case when we look into our human cohorts.

Announcer: Interesting, informative, and all in the name of better health. This is The Scope Health Sciences Radio.

Interviewer: New insights into the complexities of autism, up next on The Scope.

Announcer: Examining the latest research and telling you about the latest breakthroughs the Science and Research Show is on The Scope.

Interviewer: A recent report published in the journal Nature shows how incredibly complex autism is. Here to talk with me about the findings and what they mean is Dr. Hilary Coon, an author on the paper and research professor at the University of Utah. Dr. Coon, what did you find in this study?

Dr. Coon: Well, this study involved a lot more data and human subjects than pretty much any other study that we've done so far. In this study, we greatly increased our knowledge of genes with definitive evidence for association with autism risk. Now we're up to about 30 of those. Probably about 70 more are very likely to be associated with risk. But the other thing that we did was just look at the number of occurrences of mutations in these genes, we can make an estimate that there are probably over a thousand genes that are actually associated with risk. So, many, many genes out there that we have not yet identified.

Interviewer: I mean, this just shows how complicated autism is. Was that surprising to you?

Dr. Coon: No, not at all. So when we started out doing this kind of work decades ago, people were hoping that this would be a disorder that was maybe a few genes and as studies progressed it became okay maybe a dozen, maybe 20. The more we study this, the more complicated it becomes which isn't probably all that surprising considering this is something that has to do with the brain which is a very complicated organ.

Interviewer: What implications do these findings have for genetic testing?

Dr. Coon: Well, certainly genetic testing is hopefully something that we'll identify, make early identification so that parents can get their kids into treatment earlier. Of course, the problem that a study like this brings about is that we know that there are many, many genes that wouldn't be on a genetic test because we simply don't know what they are yet. And, in addition, the genes that are on there have variable degrees of association with risk. So, for example, you might see a mutation in a person, assume that that's a risk mutation and define that that person may get autism where as they may need 5, 6, 10 other factors in order to actually get the diagnosis. So, our knowledge of the inner play between different risk factors is also so far very limited.

Interviewer: So at this stage, genetic testing couldn't definitively point out every person who may get autism or who may not get autism. This is actually kind of similar to other complicated conditions out there.

Dr. Coon: I kind of think about this as the way we conceptualize risk for something like heart disease or obesity where we all kind of know that yeah, there are genetic factors out there, but if you have any particular risk factor it doesn't necessarily mean that you'll get a diagnosis. So while the risk factors are important, and maybe knowing about them are important, then that would lead to some preventative measures. The way that we have of defining risk is far from complete.

Interviewer: In the report in the journal Nature you also looked at what types of genes are risk factors for autism. What did you find there?

Dr. Coon: Yeah, so one of the things that the big studies are trying to do because this looks so complicated is to take the risk mutations, look at those genes, and try to group those genes into biological pathways just to try to make the problem a little more simple. And one of the biological pathways that appears to be very important is genes that control synapses. So these are the communications that occur between nerve cells and that certainly makes some intuitive sense.
Another one, another pathway where there are several genes involved is in genes that work to control genetic expression during development. So, it's possible that for example if the child might have a mutation in one or more of these genes that then they're more vulnerable, for example, to particular environmental hits that may happen during development. So, that's a really interesting gene pathway to sort of becoming to the fore, it brings up possibilities for studying all kinds of genetic and environmental interactions.

Interviewer: I think one thing that strikes me about those different classes of genes that are hit is that they all are sort of at top of a cascade of effects. I mean, if you impact how a synapse is made or if you impact how genes are turned on or turned off, that's going to have a lot of consequences down stream of that.

Dr. Coon: Right, so the other thing to keep in mind though, again is, okay, say you have a mutation that's in a synaptic pathway, the brain is amazingly complex in that there are a lot of compensatory mechanisms. So you might have some sort of defect but as humans we have many ways of sort of getting around those particular defects. So, you're right, this cascade effect is probably hugely important.
But again, any one mutation may not put you over the edge as far as risk. It may take that mutation plus a number of other more subtle mutations that mean that maybe your compensatory mechanisms don't work as well or maybe that one environmental hit that occurred at a particular time in development was way more important than it would be for the next individual. But if you weren't exposed to that you'd be fine.

Interviewer: Do these findings also suggest something about autism itself, what autism is?

Dr. Coon: You know, this is maybe the way we used to think about mental retardation as being all one entity and now we know that even X-linked mental retardation there's dozen of different very specific syndromes. So, it's likely that autism is hundreds of different disorders and we lump them all together simply because we don't understand enough to be able to split them out.
There are some particular syndromes that have been very specifically identified, like rett syndrome, that result in autistic behaviors and a diagnosis of autism that they are very well characterized. And we know their genetic mutation. So that kind of thing is sort of like picking away at the iceberg, getting at one particular rare syndrome after another.

Interviewer: So how do you plan to untangle all of this? What is the future of this type of research?

Dr. Coon: Well, okay, there's a huge place for the large consortium studies. Really, with that kind of collaborative research you start to be able to have enough individuals that are participating, enough samples, enough people working on the problem together just to begin to make sense of it, begin to see patterns in the results. So that is an absolutely crucial part of this.
We're kind of lucky in Utah in that I think we have another part to play that's important and that maybe can't be done in many other places in the world and that is simply with our really big amazing families here. The families that participate are just incredibly unique in that they'll come in over and over and over, they will agree to be tested in multiple different ways so that we can start trying to figure out sort of the specificities of their traits that they're carrying in their family.

And because we have families with 3, 4, 5, sometimes 10 individuals in just one nuclear family, we can really see how these particular genetic mutations occur together with very specific traits and characteristics. We can look at their certain historical information and try to figure out if there were any other environmental exposures, we can look at all of their medical history and try to figure out exactly what some of these mutations might mean.

Interviewer: So something you just mentioned is the autism sequencing consortium and that you're part of that and that's who published the paper. I actually find it really interesting that you're referred to as autism sequencing consortium instead of your individual names and institutions.

Dr. Coon: You bring up a really good point. This is a collaboration of over I think, 37 different institutions and hundreds of scientists working on this. And everybody on this consortium is so concerned with making progress, scientific progress, much more concerned than their own careers or their own making their name in the world, right?
So, the authors actually agreed to simply list as the "author" of this paper being the consortium and then give a link to a website that lists all the consortium members. It's a really nice thing to be able to see the evolution of scientific work going towards this very collaborative collegial type of consortium where everybody's really working together to try to solve a very important problem.

Announcer: Interesting, informative, and all in the name of better health. This is The Scope Health Sciences Radio.