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So your daughter just had her first period. What's normal, what's not, and what to expect now.

A girl's first period marks her entry into womanhood. It's called menarche. And many parents, especially moms, seem to have a lot of anxiety and questions about it. Many moms readily admit to me that they have forgotten what periods were like when they started. So if something doesn't seem right, they get incredibly nervous that something is wrong with their daughter. Some worry that their daughter has started too early or too late. Actually, any time between ages 9 and 15 is normal.

Some worry that their daughter doesn't have a period every month like clockwork and that they need their hormone levels checked or some sort of treatment to make their periods regular. Well, it is hormones to blame for this. However, it's because hormones are still settling themselves out. It can take two to three years before periods become regular. If there is a family history of irregular periods, they might never be regular. And that's okay too. Parents really worry if their daughter's periods are not regular. But unless their daughter is sexually active or they go months between periods after having them for about a year, there really isn't anything to worry about. Irregular periods by definition happen either less than three weeks apart or more than five weeks between periods. Otherwise, they're normal.

Moms also get concerned about cramps. Sorry, but cramps are part of periods. Your daughter should not miss school or stop being physically active because of cramps. Being physically active has been shown to decrease cramps. I have parents wanting me to write letters so that every month their daughter can miss school during her period. Periods normally last 3 to 10 days. So that's a lot of school missed. I try not to do these letters and instead discuss ways to help their cramps. Over-the-counter naproxen really helps and so does a heating pad.

Some girls will even have nausea or vomiting with their periods due to hormone fluctuations. Treating them supportively with anti-nausea medicines can help.

Moms also get concerned about their daughter's becoming anemic. This does not happen usually. Girls normally lose between 30 to 40 milliliters per period. This is six to eight teaspoons of blood. So while it looks like a lot of blood during a period, it's not as much as it seems. If your daughter has something called menorrhagia, that is excessive blood loss and that is 80 milliliters or more of blood loss per period. And these girls normally pass blood clots that are larger than a quarter. These girls will usually soak through a pad or tampon every hour for several hours during the heaviest portions of their periods. They may also need double maxi pads for protection. If this is the case, then you should talk to your daughter's pediatrician about ways to help.

I often get asked by moms if their daughters could have endometriosis or fibroids or other gynecological issues. As a pediatrician, I can do basic period management and gynecology. I can do oral or injectable birth control to help with periods. But often the best thing for me to do is to refer my patient to a gynecologist if it's more than I can address. They are much better at diagnosing and managing female concerns.

Finally, moms also ask me if their daughters need Pap smears now that they have started their periods. No. That used to be the case, and it's pretty traumatic for a young girl. The current guidelines are if a girl is 21 or has been sexually active for three years, then they get a Pap smear, and that would be done by a gynecologist, not a pediatrician.

Bottom line, most period concerns are actually part of normal development. Your pediatrician can let you know when something is not normal and refer you to a gynecologist who sees teenagers for additional help when needed.

Interviewer: A new tool that could completely change how we diagnose infectious diseases, up next on The Scope.

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Interviewer: I'm talking with Gabor Marth, professor of human genetics at the University of Utah and co-director of the USTAR Center for Genetic Discovery.

Diagnosing infectious diseases is still a significant problem in medicine. Right now in the clinic, you either do a culture or maybe a PCR test to see what's infecting a person. You have co-developed a tool called Taxonomer that's taking a completely different approach.

Gabor: Taxonomer is a software tool that is able to look at DNA fragments, which is what current technologies are able to produce from blood from an infectious disease patient, and identify the organisms that are present in that sample.

These types of tools, in my opinion, are very likely to replace the tests that you mentioned, that are based on specific hypotheses. We have to know what the strains that we are looking for in these patients, whereas tools like Taxonomer will be able to look at the DNA sequences and tell you upfront what pathogenic organisms are causing the patients disease.

Interviewer: So if you have a patient that's sick, you take a little blood, you have to get the DNA from that blood sequence for all the genetic material, I guess. And then that sequence information goes in the Taxonomer, and Taxonomer catalogues everything that's in there.

Gabor: Yes, as you mentioned, in traditional clinical tests you would have to ask "Does this patient have this particular strain of, which specific pneumonia strain this particular patient has." Sometimes these experiments fail. Some of the strains go better in the media that are used in laboratory tests than others. When the same data goes to a Taxonomer you just get an unbiased view of which strains and what proportions are present in the patient. That will help the physician diagnose the patient much faster, and in a much more objective manner.

Interviewer: So there are some really stand-out characteristics of Taxonomer. These are based on the software called Iobio, which is what you developed, correct?

Gabor: Taxonomer itself is the engine, it is the software that is able to take a DNA fragment and tell you which organism that DNA fragment presents. And it's married to Iobio, which is a web-based analysis platform that my laboratory is developing, that allows interactive, real-time and high visual representation of the data.

Interviewer: So yes, one way I've heard it described is that it's like putting a super computer in the hands of your average user, it has that much power behind it. But it's accessible on the internet.

Gabor: This is actually an accurate description because the computational power that allows Taxonomer to run is enormous but all that is hidden from the user. It's what's called the backhand of the architecture, there is a powerful computer sitting in the background that performs the computation in very, very intensive classification job. But what the users see is almost immediate response and almost immediate results.

Interviewer: And so before, this type of analysis took a lot longer and probably had to be done by a specialist, right? A bio-informatic specialist. But now anybody could do it. Is that the idea?

Gabor: Many, many things that the average user will be able to do. Of course, this is not to say that there is no longer need to for a . . .

Interviewer: We don't need you anymore.

Gabor: More involved analysis and expert analysis, but what Taxonomer will be able to do, it will be able to give a scientist, or even a lay-person, an immediate view of what is the overwhelming characteristics of the data. For example, we have examples of an Ebola patient. And when you look at the viral composition of the blood taken from this Ebola patient, you will see that pretty much 100% of the viral load in this individual is Ebola. So that's a very, very obvious and easily interpretable answer to the question of what's making this person sick.

Interviewer: Well like you said, a lot of the strength of this tool is that it's very visual, and that helps people take in information in a different way. Can you talk about that a little bit? Why you think that's an important component.

Gabor: That's how the human mind works. Experts can be trained to look at large data files and textual outputs coming from software and interpret that data in a scientifically meaningful fashion. But our human brain doesn't quite work that way. We like to see things, we like to use the brains innate analytical abilities to start from an image to develop an understanding. And that is the underlying philosophy behind the Iobio project.

Interviewer: In a few years how do you envision Taxonomer, in particular, being used?

Gabor: I view this that its applicability is going to be very wide. This is going to be a very wide and generally applicable tool. Some of the applications that we can foresee today will be infectious disease identification in the clinic that will require expert review of the data. Moving forward, the obvious application will be pathogen identification in the field, under field conditions.

Once the technologies are developed for portable and faster DNA sequence can be used under field conditions. This is only scratching the surface, checking sanitary conditions in restaurants and many applications that we can think of now and many even more applications that will become clear in the future.

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Interviewer: Amyloidosis is a rare but not uncommon disease that is a lot of times difficult to diagnose and can be very tricky to treat. If you've been told that you have this condition or know somebody who has, this is the podcast that's going to help explain it and help you understand it better. That's coming up next on The Scope.

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Dr. Jose Nativi is a Cardiovascular Director of the Amyloidosis Program at University of Utah and Huntsman Cancer Institute. He's an expert in this stuff and we're going to explore with him this condition. What you need to know and what kind of treatment options are available. So let's talk about the condition first. You're a cardiovascular expert, but from what I understand this condition can affect a lot of different organs in the body and that's part of what makes it complex. Is that a fair statement?

Dr. Nativi: That's right. Amyloidosis mainly is a condition when there's proteins in your body that they misfold and then deposit on several tissues. So depending on what tissue is affected, symptoms are going to appear and also depending on the type of protein that is going into the several tissues, it will have an impact in your system.

Interviewer: Two different variables here.

Dr. Nativi: Right.

Interviewer: That's kind of unusual for any sort of illness or disease. It makes it very complicated.

Dr. Nativi: Right. These patients tend to show with multiple symptoms, as you mentioned. If the deposition is in the heart, it will come with heart failure symptoms, like shortness of breath, cough, fatigue. But at the same time, they might have the deposition in the kidneys and they will come with swelling legs, weight gain. And sometimes, unfortunately, it takes time for these patients to underwent the full workup and finally get into the diagnosis of amyloidosis.

Interviewer: Depending on what organ it gets into it sounds like it starts with the symptoms of that organ failing.

Dr. Nativi: Exactly. So it's hard to recognize at the beginning. Amyloidosis the majority of the times, get a different diagnosis. The most common example is the patients with carpal tunnel syndrome. We have patients that they go into carpal tunnel surgery because of numbness of the hands but later, with time and with the progression of the disease, we figure out that this carpal tunnel syndrome was amyloid deposition in the nervous system. So, yes, it will depend heavily in what organ is affected and you need a big multidisciplinary team to make a comprehensive evaluation and make sure that you evaluate the majority of the organs that could be impacted by amyloidosis.

Interviewer: What are the organs that could be impacted?

Dr. Nativi: Heart is one of the most commons. It's affected in all types of amyloidosis.

Interviewer: So regardless of my other symptoms, likely my heart's going to be affected if I have this?

Dr. Nativi: In the majority of the cases, yes.

Interviewer: And then other things on top of that?

Dr. Nativi: Correct. Kidneys is very common. Kidney patients will have abnormal proteins and then they go into a routine check-up to their primary care providers and they have an abnormal protein in their urine, it's very common. A lot of neuropathies, numbness and tingling in the hands or the lower extremities is very common. If there is deposition in the skin, you can have changes in your skin. You can have purpuric changes around your eyes or in your arms or fingers. Also, there could be problems in your blood. If you check a routine blood test, some types of amyloidosis, the problem come from the bone marrow so you can see abnormalities in routine blood tests too.

Interviewer: And that's where it all originates, in the bone marrow.

Dr. Nativi: For the most common type of amyloidosis . . . let's talk about the most common types of amyloidosis. The most common is called AL amyloidosis. A is for amyloidosis. L is for light chains. That means that the light chains are the proteins that are going into the different tissues. In this type of amyloidosis, the problem is in the bone marrow. You have an abnormal production of this protein that usually is used for your body to fight infections, but it's an overproduction of this protein and then the misfolding of the protein. And because of the bone marrow that is in contact with the blood, the AL amyloidosis will tend to affect several organs because the proteins are just spread out in your body.

The other type of amyloidosis is called transthyretin amyloidosis. A Transthyretin is a protein that is normally produced in your liver, however, some people will have genetic mutations of this normal protein, and the genetic mutation will produce the misfolding and the deposition. We called that familial amyloidosis.

That is the second one, and then the third type of amyloidosis, there are several types, but these are the ones we are going to focus today. The third type is called senile amyloidosis. It's called senile amyloidosis because it's more prevalent in older adults. And it's a normal transthyretin protein produced in the liver. There's no genetic mutation, but with time and with aging, the protein misfolds and go into deposition to several organs, mainly the heart, lungs, and nervous systems.

So, amyloidosis, there are several types, several causes, and several symptoms, so you need a comprehensive team to get together and put this puzzle together.

Interviewer: Yeah, and we have a clinic here at University of Utah Health Care which we'll talk about more in-depth in another podcast that brings all those experts together. Which brings the question, do most people have it diagnosed by their physician or are you finding that a lot of people are self-diagnosing it because it is somewhat of a rare but not uncommon disease? I mean, how are people finding out they have it?

Dr. Nativi: I agree with you, there's a lot of under-diagnosed amyloidosis. The incidence in the United States is around 3,000 cases. However, as a field, we believe that there are thousands of patients that are not diagnosed. So how the patient goes to a diagnosis of amyloidosis, is a very high index of suspicion from both, from the patient and from their providers.

You have this patient that have multiple things going on and usually they go to several providers and each provider will tell them different plans. We're trying to avoid that in our center. And finally, at the end, there is an organ that will really, really be affected and sometimes it's very late and that's where some providers start thinking about doing a biopsy.

The diagnosis of amyloidosis requires tissue. This is critical. This is important. This is a very important message. You need tissue of the patient in order to make this diagnosis. So what type of tissue? Several types. The most simple tissue that we can get is fat from the skin of your abdomen. This is a clinical out-patient procedure. You don't need to be admitted to the hospital. We take a sample of your fat of your skin. We send it to the microscope and then we do special staining that is called Congo Red.

With the microscope and the Congo Red staining, we can identify the Amyloid proteins and then we can make a diagnosis. And after that, we do the whole comprehensive evaluation to see what organs are affected. Sometimes, patients will require other types of tissues: heart biopsies, kidney biopsies, bone marrow biopsies. But there are several ways and for primary care providers, a good start would be a fat skin simple biopsy as a way to start.

Interviewer: As somebody who thinks, "Hmm, I wonder if I have this." Is there something that you could say that would make them go, "Yeah, I think do." Because it sounds like, like you said, you get a lot of frustration with a lot of doctors, you get a lot of different diagnoses, nobody can really figure out what is going on, carpal tunnel operation, how do you finally end up here as a patient as quickly as possible?

Dr. Nativi: Yeah, there is several clinical scenarios. Definitely, a patient that has several organs affected at the same time without a clear diagnosis that will be a red flag.

Interviewer: Okay.

Dr. Nativi: Another red flag that is kind of . . . there are some clinical fissures that are very particular for amyloidosis. An enlarged tongue. This is very particular for amyloidosis. If you notice that your tongue is growing or is increasing or is getting thicker, the majority of the time is related to amyloidosis, the position in the tongue, and is very particular for amyloidosis. So if a patient comes to me with a symptom of tongue enlargement, I will try to rule out amyloidosis first.

Another common symptom, it's not that common, but it is very particular for amyloidosis, is for a purpuric change in the skin below your eyes. If your skin below your eyes becomes purple or blue, this is very particular for amyloidosis and I would go to your doctor the sooner the better.

Interviewer: All right. No cure just treatments from what I understand at this point. Is that accurate?

Dr. Nativi: Well, there has been a lot of progress in amyloidosis. Usually when patients read about amyloidosis, either online or other sources, they get really concerned because the belief is that there is nothing to do for amyloidosis. That's not true, especially in big centers that treat amyloidosis, there's a lot of options.

Key messages are for options is the earliest the diagnosis, the more options we have for you. So the less organ involvement, the more options that we have for you. So, for AL amyloidosis, we can offer chemo therapy and even a bone marrow transplantation with very good outcomes with several years of survival. I have a patient with a diagnosis of AL amyloidosis that is more than 20 years with this diagnosis and she went through chemo and she went through several things and she's doing well.

For other types of amyloidosis, if it is transthyretin amyloidosis we can offer either liver transplantation because the problem is coming from the liver. If the liver and the heart is affected, we can offer you liver and heart transplantation. If the kidney is affected, we can offer kidney transplantation. And one of the interests of our group too is also clinical trials, research clinical trials. So right now we are enrolling clinical trials of a medication that will avoid the misfolding of the protein . . .

Interviewer: The cause.

Dr. Nativi: . . . so that you don't have progression of the disease. So the outcomes of amyloidosis are changing a lot and the literature is changing a lot. So I think this is a good time right now for several options and for a better prognosis for these patients.

Interviewer: Anything that I forget to ask anything you feel compelled to say?

Dr. Nativi: I will say that the earliest that we can make this diagnosis the better. If there is any concerns, if you have several symptoms, several organs affected, and it's unclear the diagnosis, I think it will be reasonable to screen for amyloidosis.

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Interviewer: It's great to eat healthy but what if you are eating too healthy? On the verge of obsession. You're always watching what you eat. Counting all the calories, and tracking all the carbs and proteins. You may think your diet is good for you but it can actually result in unhealthy consequences. That's next on The Scope.

Announcer: Medical news and research from university Utah physicians and specialists you can use for a happy and healthier life. You're listening to The Scope.

Interviewer: We're here with Dr. Nick Galli Assistant Professor at the Department of Health Promotion and Education. Can you explain a little bit about the differences between an eating disorder and eating too healthy? Because we've always identified an eating disorder with food is bad, I hate food. Right? But if you love food and you think all of this is a healthy way for me to intake food but it gets to the verge that it's just unhealthy at that point.

Dr. Nick Galli: I think we want to be careful about diagnosing something with an eating disorder simply based on what they eat I think it's more about if they have rules about what they can eat and is there diet becoming overly rigid. It's great to eat healthy. The problem comes when the person is telling themselves they can't ever eat this, I can't ever eat that. And being overly restrictive. One of the movements in the last ten years or so has been toward intuitive eating. And that's listening, getting in good touch with your body listening when your body tells you I need some salt, I need some sugar. You know, I need that cookie right now. Being okay with that, and if we can get in touch with our body and what our body needs, we're less likely to the old binging where I haven't had a cookie but in a moment of weakness I'm going to eat ten of them. And so and then you feel guilty

Interviewer: And they feel guilty.

Dr. Nick Galli: And then they feel guilty. So getting into the mindset that there's no such thing as a bad food. There's you know, all food has something in it that's okay for you it's just moderation and it's certainly there's certain foods that you really want to eat in moderation. And we should not be going to McDonalds everyday, probably, you know? But there's nothing wrong with having a McDonalds cheeseburger every now and then. It's much easier said than done in terms with getting in touch with what your body need because we're not use to doing that in our society. We're very fast paced. We just kind of eat. I mean we're eating while were doing three other things. We don't even think about what we're eating.

Interviewer: Snacking on it.

Dr. Nick Galli: Or snacking or watching TV. We're not in tune with our body. Some would say that if you could become an intuitive eater, you're more likely to eat healthfully.

Interviewer: For those people that just are all always consciously watching what they eat they have that mindset of this has this many calories, I shouldn't be eating this cookie, this salad has too much dressing, there just always watching what they eat and think it's healthy. Because I do that sometimes too. But can that be unhealthy for me to always be constantly be watching what I eat.

Dr. Nick Galli: I think it takes some of the joy out of eating.

Interviewer: Okay.

Dr. Nick Galli: It's funny because we've in now and recent years, it's now become required that everything you buy has the caloric content

Interviewer: Yeah you're always looking at those things too. Those numbers.

Dr. Nick Galli: That was change was supposed to be a good thing right

Interviewer: Right

Dr. Nick Galli: Oh well now we all know. And I think it can be an okay thing it's just there is a line between what becomes somewhat obsessive where you're counting to the calorie of what you're eating and how much in it just becomes again, I go back to just becomes too rigid. So there's nothing wrong with watching what you eat and you know, wanting to put good things into your body. But there is something wrong when you start saying I can never have this. Or restricting yourself constantly and just realizing that as long as I'm living at an active lifestyle and getting a good balance of food that I can a little bit of dressing, I can have that cookie, it's okay. And again when you have that belief you're much less likely to have that binge that we've talked about.

Interviewer: Gotcha. Okay.

Dr. Nick Galli: I would never want to discourage someone from watching what they but eating is also should be something enjoyable and social and we should take the time to savor what we eat and we shouldn't be forcing ourselves to eat things we don't like.

Interviewer: Right

Dr. Nick Galli: Just because we think they're healthy, we need to be thinking about appealing to our taste buds and to be aesthetic so the food and all of these things and it becomes counter productive when we get so rigid and picky about what we eat. And then at some point most people can't adhere to that over time, at some point you just can't take it anymore.

Interviewer: Then another health issue comes along.

Dr. Nick Galli: Exactly and then we start talking about obesity.

Interviewer: So we talked a little bit about kind of how you have to have the mindset of eating healthy, watch what you eat but don't watch what you eat. But then you know at the same time how does that affect your body and your physical sense.

Dr. Nick Galli: Anytime you cut anything completely out of your diet yeah that's not usually very good for your body. We could go into all the physiological stuff but I mean we saw these diets that they were supposed to be miracle diets and they usually involve cutting something significant, completely out of your diet.

Interviewer: Right

Dr. Nick Galli: The first one was the Atkins diet.

Interviewer: Okay yeah. That's right.

Dr. Nick Galli: Completely cutting out or almost completely cutting out carbohydrates, which are our main source of energy. Carbohydrates but you find them in a lot of snacky foods so and the doctor who created this said well if you just cut carbohydrates pretty much out of your diet you will lose weight. And people were losing weight but they were having health concerns because they're eating a lot of saturated fat in meat, they were missing out on carbohydrates, they weren't feeling very good. So they were cutting weight but it was having all these unintended consequences and you really when you looking at carbohydrates there's not very much.

Interviewer: Any final thoughts, maybe alternative ways to eat healthy without eating too healthy.

Dr. Nick Galli: Try different foods, be open to different foods, you may not think that you like fruit or vegetables- try different ones. Learn how to cook.

Interviewer: I'm already failing on that point.

Dr. Nick Galli: Make it something that you can do with a friend or a partner. I don't know, just don't restrict yourself. There's so many foods out there that people don't even want to try and you need to expand your personal menu a little bit.

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