Search for tag: "pathology"

Dr. Miller: What does a pathologist do, exactly, and how can they help you stay healthy? I'm Dr. Tom Miller, and we're going to talk about that next on Scope Radio.

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Dr. Miller: Hi, I'm here with Dr. Jerry Hussong, and he is a clinical pathologist and also the chief value officer for ARUP Laboratories. Jerry, aside from what we see on CSI and some of these shows on TV, what does a pathologist really do, and how does that relate to the person who is having an annual examination or seeing a physician for a particular problem?

Dr. Hussong: Everybody thinks a pathologist is a person responsible for doing an autopsy. And it's not just autopsies that the pathologist does. Really, pathology is the study of disease, of the cause of disease and the effect of disease.

Dr. Miller: And actually, autopsies are a small part of what a pathologist generally does. Is that right?

Dr. Hussong: A very small part, and that's just a small part of anatomic pathology, but there's a whole other area of pathology called clinical pathology. Pathologists are physicians who specialize in diagnosis and management of disease through laboratory test medicines.

Dr. Miller: So I can say as an internist, the assets that pathologists bring to the table are incredibly valuable, and yet a patient may never see a pathologist during the course of their treatment.

Dr. Hussong: Often, they will not see a pathologist. They may see a bill from a pathologist, and wonder why they didn't see the pathologist and what is this bill from, but it's really for producing the laboratory tests our clinical colleagues then use to treat the patients.

Dr. Miller: And so what's so important about your role is, I imagine, making sure that the test results are accurate and precise.

Dr. Hussong: So a pathologist is usually the laboratory director who is legally responsible for the quality and the accreditation of the laboratory in which the tests are going to come out of. Laboratories are regulated by state agencies, and each state has their own specific requirements for regulation. All laboratories undergo accreditation by CLIA, which is the Clinical Laboratory Amendments Act, that really oversees the quality of testing. But the pathologists make sure that those tests results are accurate, and that is how we serve patients and serve the physicians that are taking care of patients.

Dr. Miller: You know, I've always felt like the world of quality as resides in pathology is sometimes ahead of some of the other fields in medicine. I mean, the way you guys take such particular care to make sure that the results are accurate and spot-on, and that samples that go to the surgical pathologist and anatomical pathologist, you have checks and balances to make sure that diagnosis are well vetted and well carried out.

Dr. Hussong: And there is a huge amount of work that goes into validating tests before we ever bring those tests online. So we go through extensive validation, checking, there's a lot of work that goes through and into the process before we bring the test online. And then once the test is online, we have to go through a continuous ongoing review and validation that nothing is going on or wrong with the test as we continue to offer the tests clinically.

Dr. Miller: A lot of ongoing quality assessments and . . . I think your work is very concise and very precise, if I might say. And that's sometimes a little bit different than what we experience in the clinical realm in our day-to-day work with patients. So when you say tests, what kinds of tests are you talking about for the patient? Are we talking about blood tests, are we talking about tissue samples, what are we talking about?

Dr. Hussong: It can be all of those. In anatomic pathology it often is a tissue sample, so a biopsy is taken, maybe a patient is undergoing a colonoscopy and they get colonic biopsies that are then sent to the pathologist to look at and see whether there is any disease process going on or if the tissue is healthy. But it also can include a number of clinical laboratory tests, which can be evaluating blood, urine, cerebrospinal fluid, and pleural fluid, any of those types of those specimens as well.

Dr. Miller: You know, I don't think people understand, or patients necessary understand, that when we order a laboratory study, it's really up to the clinical pathologist in charge of the laboratory quality control to make sure that that test is valid and accurate.

Dr. Hussong: Absolutely, and laboratories undergo proficiency testing throughout the year where there are standards that are sent out by regulatory agencies where you actually do the test and provide the result back to the regulatory agency, and they check you in relationship to other laboratories across the country to make sure you are doing high-quality laboratory testing.

Dr. Miller: So it's almost like a patient has the safety of mind, or presence of mind, that they don't really have to worry about this. It sounds like wherever you go in the country for a laboratory study or if you're going to have a tissue sample evaluated by an anatomical pathologist, that there is quality control associated with that test, no matter whether you have it done in Florida or whether it's done in California or Arkansas or any particular state.

Dr. Hussong: Absolutely. I think the key is to make sure that the laboratory is accredited by an accrediting agency, whether that is CLIA or one other of the deemed agencies such as the American College of Pathologists.

Dr. Miller: Now, there are some large laboratory companies, I think, in the country that actually run blood samples for private physicians and they're under the same regulations. Is that true?

Dr. Hussong: The exact same regulations, and they will have a medical director who will oversee and be responsible for the laboratory testing out of that laboratory.

Dr. Miller: So mostly for patients that are listening and families that are listening, it's really peace of mind to know that we have a clinical pathologist behind the study and quality of the tests and test results.

Dr. Hussong: Absolutely, and it's important for patients and families to realize that the pathologist is a part of the health care delivery team. They may not see us, but we are going to provide useful and valuable information to the clinicians, who are then going to take that information to use and treat the patients that they are seeing.

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Host: It's the second most common form of progressive dementia next to Alzheimer's. What is it? You're going to find out next on The Scope.
Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.
If you don't know a lot about dementia with Lewy bodies disease you're not alone. It's something even a lot of physicians don't know a lot about, but luckily we're here with an expert and we're going to find out more about this disease which is a lot more common than you might thing. We're with Dr. Rodolfo Savica. He's the Director of the Dementia with Lewy Bodies and Parkinson's Disease at the Dementia Clinic of University of Utah healthcare. Thanks for taking time. First question: what is this disease? Is it similar to Alzheimer's?

Dr. Rodolfo Savica: This disease is very close to Alzheimer's and is very close to Parkinson's disease. I would say something in-between the two. The interesting thing is that dementia with Lewy bodies share the same pathology with Parkinson's disease but behaves somehow differently. Try to imagine you have a brain that is affected by Parkinson's disease but you have a more diffused involvement of the brain so together with tremors, shakiness, rigidity, stiffness typical of Parkinson's disease but you also have memory loss but not the typical memory loss that you see in people with Alzheimer's. It something completely different, to some extent. Some people have more problem with planning rather than remembering events.

Host: Okay. So planning versus remembering?

Dr. Rodolfo Savica: For example.

Host: Okay.

Dr. Rodolfo Savica: Or people are having problems with another part of memory which is visual/spatial. So people have trouble with depth perception. People have hallucinations that can be pretty bothersome because sometimes they may interfere dramatically with the life of the individual. So it's something in-between the two but some things different than Parkinson's and Alzheimer's disease.

Host: All right. Can it kill you? The first time I've ever even heard about it was Casey Kasem. Now I heard he's dead. Is that what killed him?

Dr. Rodolfo Savica: That's right. Unfortunately, all the neurodegenerative disorders can kill you. One thing that we know is that, if you use the similarity with Parkinson's disease, we know nowadays that people with Parkinson's disease don't die because of Parkinson's disease.

Host: Okay.

Dr. Rodolfo Savica: They die of normal aging. We don't have the same data available for dementia with Lewy bodies, but the two diseases are very close. The vast majority of people with dementia with Lewy bodies don't die because of the disease. However, there are some forms of dementia Lewy bodies that are pretty fast, basically they kill you in 16 months, but those are the rapid progressive Lewy body disease that is something pretty different than what we normally see in the clinic.

Host: How common is this disease?

Dr. Rodolfo Savica: As you were saying in the beginning, it is the second most common form of dementia and it's the second most common form of Parkinsonism. So Parkinson's is first, second is dementia with Lewy bodies. There's Alzheimer's disease first, second is dementia with Lewy bodies. It's more common than we think because, as you were saying before, it's been poorly understood and for many years was under recognized. This disease was identified for the first time in the 80s by a Japanese physician, Dr. Kozaka, a very interesting man that I had a pleasure to meet. For many years it's been forgotten almost and now we know that people with Parkinson's disease, when they have a more diffused degeneration of the brain, for example, they all have these kinds of symptoms. So it's much more common than what we thought.

Host: And it's difficult to diagnose for a lot of physicians.

Dr. Rodolfo Savica: Yes, because, unfortunately, since it's something in-between Alzheimer's and Parkinson's you have to have dual expertise to understand this. You need to know about Alzheimer's and Parkinson's at the same time. Unfortunately, not a lot of people are trained in both of these two major diseases. So it's kind of difficult because some of the symptoms are very similar to Parkinson's and some are very similar to dementia. So it requires some specific skills and expertise to identify.

Host: Yeah, somebody who's got a lot of expertise with this particular disease.

Dr. Rodolfo Savica: Correct.

Host: So they're so close to these other diseases. What happens if it's misdiagnosed? Is that a bad thing?

Dr. Rodolfo Savica: It can potentially be a bad thing because the symptoms are quite different, however similar, and the response to medication is pretty different as well. For example, one of the classic drugs that is highly used in Alzheimer's disease is a class called anti cholinesterase inhibitors, Donepezil, a drug that has been used for more than ten years in the U.S. and the rest of the world. This drug works better in people with dementia Lewy bodies than in people with Alzheimer's disease, so you want to do a good diagnosis and a correct diagnosis because then you have to manage the symptoms appropriately. If you have a wrong diagnosis it's not going to be the case.

Host: You're using the wrong drugs.

Dr. Rodolfo Savica: For example.

Host: Could that cause death if you were given the wrong drugs for the disease?

Dr. Rodolfo Savica: It can cause problems.

Host: Like what type of problems?

Dr. Rodolfo Savica: It can cause problems. For example, if you use another class of drugs that are called neuroleptics people with dementia Lewy bodies, for example, if you use haloperidol, a drug that's used a lot in our geriatric population, you may have a bad reaction. You have something that can lead potentially to death to some extent or definitely can lead to confusion, worsening of memory loss, worsening of Parkinsonism. So it's definitely something that is impacting highly the wellbeing of the individual affected and also the caregivers.

Host: So if you have a physician and he's like, "Oh, boy, I don't know," then that might be a time as a family member for that loved one to seek out a specialist?

Dr. Rodolfo Savica: Oh, yeah. Absolutely. I would say that every time there's a doubt from a physician or from family members it should be better to seek out a specialist. Unfortunately, there aren't very many in the U.S.

Host: Yeah, you're one of the few and this is one of the few clinics in the whole United States that actually is dedicated to this disease, if I understand correctly.

Dr. Rodolfo Savica: That's right. The current number is four.

Host: That's not very many, is it?

Dr. Rodolfo Savica: Not very many at all.

Host: I would imagine that number is going to increase at some point.

Dr. Rodolfo Savica: I hope so, actually. There's actually five in these world.

Host: So how do you determine? Are there any tests for it or is all just cognitive stuff?

Dr. Rodolfo Savica: Well, there are some tests. Usually whenever I evaluate a patient with a possible dementia with Lewy bodies diagnosis I run several tests. This includes neuropsychological assessments and formal four hours evaluation for memory, plus imaging, MRIs, and other imaging like functional imaging, something called FTG CAT scan or DaTscan, dopamine transporter scan, that can be very helpful to identify this disease and better clarify the diagnosis and also the baseline status of the patient, where the patient is and what can happen in the future.

Host: So there are some tools available to you?

Dr. Rodolfo Savica: Absolutely, yes.

Host: None of them give you a definitive answer. You have to take all of these things together.

Dr. Rodolfo Savica: That's right. With clinical criteria and neural imaging we can be very close to the top six level. There are also some people that we're going to misdiagnose but there are not very many.

Host: Is there a cure for it?

Dr. Rodolfo Savica: There isn't anything that can delay the progression or block the progression of the disease. It is something that is present in any disorder that involves neurodegeneration, Lou Gehrig's, Parkinson's, and dementia in general. But there is a cure in a sense that we can do a lot to improve the quality of life, the wellbeing, and also the survival of people with this particular disorder.

Host: So if somebodies looking for more information on this do you have a resource you'd recommend?

Dr. Rodolfo Savica: Sure. First of all, I would like to say that for any questions, please feel for the contact us directly through the phone that you can find online at this particular website. It is UtahMovementDisorder.com.

Host: Are there any final thoughts you have on this topic, anything you'd want the listeners to know or take away?

Dr. Rodolfo Savica: I would like the listener to know that they're not alone. We are a team of people who are invested in this particular disorder. We are also launching, other than the clinic, a support group specifically devoted to people with this particular disorder. We are trying to do our best in terms of clinical care and research to help these people with this disease. In addition, I also say that we are more than happy to see all the possible patients that are interested to be seen with this disorder, but it's always better to talk with their physician first.

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Julie Kiefer: My guest Dr. Ryan O'Connell, Professor in Pathology, was recently awarded the National Institutes of Health New Innovator Award for high risk, high impact research. So how did it feel to get the announcement of that award?

Dr. Ryan O'Connell: It felt great. It was very competitive, so you didn't know what to expect. It was very surprising to get the good news. It took a few minutes to set in, but once I realized that I was going to receive the award, I was incredibly grateful and excited.

Julie Kiefer: Your research concerns micro-RNAs. Can you explain what a micro-RNA is and what it does?

Dr. Ryan O'Connell: Sure. Micro-RNA is a small RNA that instead of encoding or producing a protein, the micro-RNA itself has a function within the cell. This function, at least the function that we understand the most, is to reduce the level of specific proteins in the cell.

Julie Kiefer: Have they been implicated in disease, as well?

Dr. Ryan O'Connell: Absolutely. Actually, that's where micro-RNAs were rediscovered, so to speak. They're found to be expressed at aberrant levels in certain types of cancers. That really started this whole wave of trying to understand what micro-RNAs are. Now we know that they are altered in disease states such as cancer, auto-immunity and cardiovascular disease. What happens is by their levels changing, the pathways that they control now become out of whack and that can really either cause or enhance disease states.

Julie Kiefer: The research that you're doing in association with this award involves actually regulating these regulators. Can you explain how you're doing that?

Dr. Ryan O'Connell: Micro-RNAs are clearly really important in driving cancer phenotypes, in driving auto-immunity and a lot of this knowledge has come from work that we've done in mice. I've become really interested in trying to move our studies into some human, pre-clinical models. For the grand proposal, the idea was to take this TALEN technology, which again is a molecular machine that can specifically alter precise locations in the human genome and delete genes in human cells, was to use this technology to be able to delete the micro-RNA genes that we know are important for disease. So we wanted to bridge the TALEN technology with our knowledge of what micro-RNAs can do and their role in cancer and auto-immunity.

Julie Kiefer: So in the lab you can genetically engineer the TALEN protein to edit specific sequences, then you introduce those TALEN proteins into the cell and they do their job.

Dr. Ryan O'Connell: That's right. So the TALEN can be designed to bind to any sequence of DNA, and then once bound, you can attach additional machinery that can actually delete precise pieces of the genome. Again, we wanted to use this to be able to delete segments of the micro-RNA genes that we study.

Julie Kiefer: So beyond validating what's already been done in mice, could this be a new type of therapy?

Dr. Ryan O'Connell: Exactly. In addition to seeing if our results really translate, I really believe this technology could be developed even further and used as a therapy. If you have, for example, a cancer that is dependent on the over-expression of a micro-RNA, can we now use the TALEN technology to reduce or eliminate the micro-RNA gene that's the driving force behind the disease.

Julie Kiefer: It's hard to imagine how this would actually work, and maybe that's work in progress. How would you actually get these TALENs into a person?

Dr. Ryan O'Connell: Right. We work with the hematopoietic system or the blood system or the blood system. The nice thing about working with that is that the hematopoietic stem cell has been well characterized. So we routinely can take a hematopoietic stem cell and reconstitute a persons entire blood system. This is done all the time, therapeutically. It's also true that it's possible to take the TALENs and to introduce these into the hematopoietic stem cell so that the TALEN could modify its target and then what we want to design it to do is modify the micro-RNA gene. Then we put these stem cells, potentially, into people, and then when the stem cell gives rise to the blood system, we can now create a blood system where we've removed the driving force of the disease.

Julie Kiefer: So you would add these TALEN proteins into the stem cells outside of the body and then reintroduce them through transfusion or something like that.

Dr. Ryan O'Connell: That's one approach, right. That's correct.

Julie Kiefer: Okay.

Dr. Ryan O'Connell: You could also, if you wanted to prevent auto-immunity, instead of going through the stem cell you could take the T-lymphocyte, which is the causing force of the auto-immune disease, and introduce the TALEN into the T-cell outside of the body and then also infuse the T-cells back in as another alternative.

Julie Kiefer: That's really fascinating. It's like a radically new type of therapy. What's interesting is that the TALEN protein comes from plants, right?

Dr. Ryan O'Connell: That's right.

Julie Kiefer: So you'd be introducing a plant gene...

Dr. Ryan O'Connell: It's from a plant pathogen, a bacteria.

Julie Kiefer: A plant pathogen? Okay. So you'd be introducing that foreign gene into humans and that would be carrying out essentially genetic engineering in human cells. How do you think people will receive that?

Dr. Ryan O'Connell: Although the TALEN proteins basically were first identified in the plant bacterial pathogen, the amino acids that the TALENs are actually comprised of are the same nucleic acids that are found in human cells already. We would basically just be introducing a specific new type of protein, again comprised of the same kind of molecules that are already in our cells, and stringing those together in a specific way were we could enable the function of the TALEN, which is the genome editing, to occur.

Julie Kiefer: So you don't foresee the media taking this out of proportion and saying there's genetic engineering in humans? There's such a phobia of that in our food.

Dr. Ryan O'Connell: Right. I think if people can understand the specifics of what we're doing here, I don't think they'll be concerned. Were not going to be transferring microbes or entire organisms into people. We're simply taking a design that's found in these particular bacteria and then using that design in these particular molecules and re-engineering it so that it can be useful in our cells.

Julie Kiefer: When I think of different types of therapies, another one that comes to mind is the magic bullet, which are antibodies that target specific disease cells. How does this technology compare to that?

Dr. Ryan O'Connell: Antibodies are very useful to eliminate cells that are dangerous or causing disease. They can also be used to deliver cargo to specific cell types. So antibodies absolutely have their place, but antibodies do not have the ability to get inside the cell and correct genes that have become mutated and that are the causing force or the foundation of the disease that's happening in people. Whereas with the TALEN, it's a completely different concept. The TALEN again is a molecular machine, that if we can design it correctly and deliver it properly to the right cells, can actually go in and fix problems and mistakes in your DNA sequence and in so doing, can fix the foundation and the cause of the disease that the person is suffering from.

Julie Kiefer: Why do you believe in this research? What's motivated you to take this path?

Dr. Ryan O'Connell: I do think that at the end of the day, it's pretty clear that genetics plays a huge role in most types of human disease. I think in many cases we're beginning to understand the nature of the types of variations in gene sequence and mutations that occur and how those result in the problems that a lot of us face. So I think while a lot of therapies are more band-aids to try to treat the symptoms of a disease, I do believe that through genome editing and hitting the most important genes, which I believe include micro-RNAs, we can actually fix the cause of disorders that happen. It's applicable not only to cancer, but to auto-immunity, cardiovascular disease and just about any disease that we face as people.

Julie Kiefer: What else can you use TALENs for, besides combating different disease?

Dr. Ryan O'Connell: If you want to get creative, it's possible that one day once we understand things a whole lot better that we could use genome editing to change any trait that a person might have by being able to make precise alterations to the relevant genes that control different traits that we have.

Julie Kiefer: Wow.

Dr. Ryan O'Connell: This is pie in the sky stuff at this point.

Julie Kiefer: Yeah. Sure.

Dr. Ryan O'Connell: But I think everything starts with an idea and then you work hard and you try to overcome the obstacles. I think there's a lot of demonstration of ideas turn into discoveries that turn into everyday therapies and things that we can use to better our lives.

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