A general manager of a professional sports team is a job that inherently comes with a high amount of stress, difficulty and demand — making important decisions that affect the future of a franchise.

But recently at Mayo Clinic, Chicago Blackhawks GM Kyle Davidson made a crucial choice about his personal health that affects his own future — undergo another open-heart surgery or have a less invasive procedure to repair his heart.

Watch: Kyle Davidson's story

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It's something Chicago Blackhawks General Manager Kyle Davidson has had to deal with all his life.

"I was born with tetralogy of Fallot. It's a congenital heart defect. I needed two open-heart surgeries right around when I was a year old," Kyle says.

Five years ago, at the age of 31, Kyle had another open-heart surgery to place a new pulmonary valve inside his heart.

"It's pretty heavy surgery and long recovery. It was about one and a half, two months," he says.

But five years later, he's having trouble with his heart again.

"I've had a couple, you know, I'd call them episodes over the last number of months, where it didn't feel normal," Kyle says.

And at 36 years old, he's back in the hospital.

"I've learned that that valve is no longer working properly again, and intervention was needed," Kyle says.

"He was noticing a limitation in his ability to exercise to his peak potential. And when we hear a limitation for exercise tolerance, to me, that is a big red flag," says Dr. Jason Anderson, an interventional cardiologist at Mayo Clinic. "His valve was regurgitant, meaning he would send the blood forward. Part of the blood would come backward, and part would go forward. So every heartbeat, he's having some wasted flow that he's trying to keep up with. So your body compensates for that by trying to go faster and beat harder."

A replacement pulmonary valve is needed. There are two options: another open-heart surgery or a less invasive transcatheter procedure.

"With all things being equal and having the two options on the table, I certainly preferred and was happy that the transcatheter approach was something that was applicable to my case," Kyle says.

"Compared to 2019 when I had my open-heart surgery, I'm just at a very different point in my life, you know. I do have the general manager's job. I do have two kids that weren't around five years ago. You have to make sure that you're putting yourself in the best situation, from a health standpoint, to be there for them for a long time," he adds.

At Mayo Clinic, pulmonary valve replacement can be performed on eligible patients as a same-day transcatheter procedure — meaning no open-heart surgery and, typically, no hospital stay. It requires only a mild form of sedation and usually takes under an hour to perform.

"The procedure is basically to give him a new valve within his existing, surgically placed valve. We do that through a catheter method, where you place equipment into the heart. We work through a large tube that goes through the vein in his leg," says Dr. Allison Cabalka, an interventional cardiologist at Mayo Clinic.

"When that valve is deployed and opened, in the next heartbeat, he has his new valve functioning brand-new, right out of the box," says Dr. Anderson.

Another aspect of this procedure that sets Mayo apart is that it’s done in tandem by two Mayo Clinic cardiologists through a method called co-scrubbing.

"When Dr Anderson and I are working together, we often think of it as two co-pilots," says Dr. Cabalka. "If we have anything that's unexpected, we have collaborative decision, we have immediate response, and we have the ability to take care of any potential complications or any potential barriers to success to make that procedure go as smoothly as possible."

And just a few hours after the procedure, Kyle is out of the hospital, heading home and back to work.

"I'm very fortunate that there are medical advances to the point where I don't have to step away, I don't have to miss any significant time," Kyle says.

Kyle’s experience is typical for patients at Mayo Clinic undergoing this procedure.

"It's not an exception that he went home the same day, that is now the norm," says Dr. Anderson. "His body is now able to achieve the same amount of forward flow with less stress and less exertion."

"Now that we're a couple weeks out and I'm back to my normal routine, I feel 100%. I feel great," Kyle says.

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DEAR MAYO CLINIC: I catch myself constantly nagging my kids and spouse to put down their devices during dinner, in the evenings and on weekends. I feel burned out by screens by the end of the workday. How can I encourage tech-free time for my family and reduce screen time?

ANSWER: Smartphones, gaming systems and screens are everywhere. They are in our homes, bedrooms, offices, vehicles, pockets and purses. While these electronics can be helpful and entertaining, the amount of time we spend on them also can become a problem.

Consider this: When using a device, you disengage with something else. Is that something else important to you? Perhaps it's a child, a significant other, exercise, your job, chores or hobbies.

Many people feel like something is missing in life. Perhaps it's an unidentified desire to live life more fully. Reducing screen time frees up more time to connect with family and friends. Feeling connections with others can help ward off symptoms of stress, depression and anxiety. We often miss out on the fun and beauty happening around us because of screens. By being present and in the moment — perhaps by setting aside a device — you may find what you need to fill that void.

There are many wellness benefits to cutting down on screen time, including these four:

1. Improve your physical health

You know that physical activity is good for your health, but device use could reduce your exercise time. Maintaining healthy habits can be hard when you spend lots of time using screens. Benefits include:

• Preventing obesity and conditions related to excess weight. This includes conditions include type 2 diabetes and heart disease.Children who watch more TV have a greater risk of becoming overweight.
• Freeing more time for exercise and play. You can add physical activity to fill the new gaps in your schedule.
• Increasing your amount of sleep. Children who watch more TV tend to have more difficulty falling or staying asleep. They can feel tired and snack more often to make up for lost hours of sleep.
• Reducing mindless snacking which can lead to weight gain. Snacking or eating meals in front of the TV can lead to mindless eating, which can result in consuming larger portions. Eliminating distractions allows you to pay more attention to your body and its signals when you're full.

2. Free up time to have fun playing and exploring

Exploring and learning about the world is an integral part of life. Children are naturally curious, but adults can explore too. Instead of spending time on devices, you and your family can try new activities. Go for a bike ride, take a walk, visit a park, check out the museum or explore a local nature trail. Activities that don't involve screens can be as exciting as what is on them. Try coloring, reading, crafting or other activities that use your imagination. Decreasing screen time allows more time for play and creative activities.

3. Make social connections

Connecting with others is crucial for us to feel cared for. Children look to their caregivers for this sense of belonging; adults may find it within their families and friends. Devices can damage these relationships.

When parents engage with a screen, children may feel they need to compete for attention. When you set down your device, you are more emotionally available and can help strengthen the family bond.

One study found that children who went without electronic devices for five days were better at recognizing facial emotions and reading nonverbal cues than those who lived life as usual. Less screen time can result in better face-to-face social skills. Having a TV on, even as background noise, will direct your focus to it rather than what is happening around you.

4. Boost your mood

Putting down your phone and going outside or doing an enjoyable activity can be a mood booster. It can make you feel more accomplished and improve your well-being. Depression and anxiety can cause a person to withdraw and isolate themselves from others. Engaging in social activities helps you connect with others and reduce symptoms of these conditions. Children who spend more time looking at a screen are more likely to have behavioral problems and divided attention; decreasing screen time can improve their focus. Violence in media may cause kids to feel anxious and depressed and lead them to think that violence is an acceptable way to deal with problems.

While technology is a great tool, it also can hinder your wellness and make you feel disconnected from those around you. Taking a break from devices frees up more time to be active and enjoy time with loved ones. Why not give it a try? — Mysoon Ayuob, M.D., Family Medicine, Mayo Clinic Health System, Faribault, Minnesota

Related post:

• Mayo Clinic Minute: How staring at screens can affect your vision
  
  

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Mayo Clinic Alix School of Medicine today again has been rated as a top national medical school in the country by U.S. News and World Report's "Best Graduate Schools” in the category of medical school: Research. The rating methodology places medical schools into one of four tiers; Mayo Clinic Alix School of Medicine is in the highest tier, Tier 1. 

"This rating is a direct result of the unwavering commitment of our entire medical school community. We congratulate our medical school faculty and staff for their talents, hard work and commitment to the Mayo values," says Fredric Meyer, M.D., Waugh Executive Dean of Education at Mayo Clinic and dean of Mayo Clinic Alix School of Medicine.

National ratings are just one of many measures of quality and value for prospective students. Mayo Clinic Alix School of Medicine publishes its own quality and value data on its website under Quick Facts, so prospective students can evaluate what distinguishes the school from other leading medical schools. The site also contains news about Mayo Clinic College of Medicine and Science. 

Dr. Meyer underscored how, as an academic medical center, the medical school exemplifies the integration of education with research and clinical practice. It's part of the culture at Mayo Clinic — one that encourages students to collaborate with and learn directly from renowned practicing physicians and scientists.

A tiered rating system has replaced the ordinal ranking system used in previous years. Tiers were calculated based on data related to research activity, student selectivity and faculty resources.

The ratings and data for these disciplines were derived from survey data that schools reported to U.S. News in 2024, in some cases combined with third-party-sourced information. Detailed methodologies will be published in the ranking methodologies section of usnews.com. 

Mayo Clinic is top-ranked in more specialties than any other hospital and has two hospitals recognized as Honor Roll members — the highest honor — in U.S. News & World Report's 2024-2025 "Best Hospitals" rankings. U.S. News continues to rank hospitals numerically within states. In the most recent report, Mayo Clinic once again holds the No. 1 position in Minnesota, Arizona and Florida. 

Related Articles:

• Mayo Clinic Alix School of Medicine: A beacon of excellence in medical residency training
• Research vs. Primary Care medical school ratings
• 9 qualities of a great doctor
  
  
  

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In the U.S., it’s estimated that 4.5 million adults are diagnosed with chronic liver disease. It develops over time and may be caused by a number of conditions including, hepatitis, genetics, alcohol overuse or cancer. Chronic liver disease is different than acute liver disease, which can come on quickly and may be the result of an injury or a virus.

Regardless of the cause, Dr. Bashar Aqel, a Mayo Clinic transplant hepatologist, says when the liver can no longer function, a life-saving transplant may be needed.

Watch: The Mayo Clinic Minute

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The liver is the largest internal organ of the body. It is essential for metabolism, digesting food and ridding the body of toxic substances. Liver failure can happen quickly, or over time.

"Once liver disease advances, the only way we can reverse the process and give the patient their life back is by replacing the liver, " says Dr. Aqel.

When patients become a candidate for a liver transplant, they are added to a waitlist. Unfortunately, there are more people waiting for a liver than there are available organs.

"As the patient is waiting on the list, they usually are anxiously waiting for that call when a donor becomes available. And that's what we call the deceased donor liver transplantation."

Another option is a living liver transplant. It's a major surgery where a person donates two-thirds of his or her liver. Donors needs to go through an extensive evaluation to make sure they can donate safely.

"A healthy liver is able to regenerate, and you will be surprised to know that with living donor liver transplantation, both segments of the liver will grow back to almost the normal size within 90 days after transplantation."

Being a living organ donor may not be an option for everyone, but there are ways to people can sign up to be an organ donor. It can be as easy as checking a box on your driver's license.

"Donating your organs is really donating the gift of life to people who are in urgent need for organ transplantation," Dr. Aqel says.

For the safety of its patients, staff and visitors, Mayo Clinic has strict masking policies in place. Anyone shown without a mask was either recorded prior to COVID-19 or recorded in a nonpatient care area where social distancing and other safety protocols were followed.

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ROCHESTER, Minn. — A study published in Brain Communications highlights a new approach to treating drug-resistant epilepsy. Researchers at Mayo Clinic have developed an innovative deep brain stimulation (DBS) platform that was used to not only reduce seizures, but also improve memory and sleep — two common challenges for patients with epilepsy.

Epilepsy, a seizure disorder that affects about 50 million people worldwide, often disrupts memory, emotions and sleep. Many cases are drug-resistant, leaving people with limited treatment options. Researchers at Mayo Clinic found that low-frequency DBS not only reduced seizures, but it also improved memory and sleep.

"Using an implanted investigational device, the team continuously monitored brain activity with AI-driven seizure and sleep tracking," says Gregory Worrell, M.D., Ph.D., Mayo Clinic neurologist and co-lead author of the study. "A cloud-based platform simultaneously assessed participants' behavior, memory and mood at home. This real-time data enables precise tuning of stimulation settings, maximizing benefits while minimizing side effects."

"By using an implanted device that continuously monitors brain activity, we can detect seizures more accurately than patient-reported diaries in order to optimize deep brain stimulation in real-time and improve treatment," says Vaclav Kremen, Ph.D., Mayo Clinic researcher and co-lead author of the study.

The researchers monitored five patients with temporal lobe epilepsy throughout their DBS treatment. The system allowed patients to track their brain activity and symptoms remotely, providing doctors with detailed, real-world data to fine-tune treatments. This technology could lead to more effective treatments for drug-resistant epilepsy and could be expanded to treat other neurological and psychiatric disorders.

"Our study demonstrates the potential of emerging neurotechnology to treat human disease," says Jamie Van Gompel, M.D., Mayo Clinic neurosurgeon and co-author of the study.

"Combining neuroscience, engineering and artificial intelligence, our work is paving the way for more personalized and effective treatments for epilepsy and other brain disorders," says Dr. Worrell.

The study was supported by the National Institutes of Health — National Institute of Neurological Disorders and Stroke, Defense Advanced Research Projects Agency, and the CLARA project, which has received funding from the European Union's Horizon Europe research and innovation program.  The implanted devices were donated by Medtronic as part of the National Institutes of Health Brain Initiative Public-Private Partnership.

Review the study for a complete list of authors, disclosures and funding. 

###

About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

Media contact: 

• Tia Ford, Mayo Clinic Communications, newsbureau@mayo.edu 

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April is National Donate Life Month. You may have seen or heard stories about transplant chains, also known as paired donations. This is when a living donor is not a match for a specific recipient but still agrees to donate, setting off a chain reaction of transplants. Most of these paired donations involve the kidney. Because most people have two kidneys and usually can get by with one just fine, donating the other is an option. Far less common is a paired liver transplant. 

But you might be asking yourself, if a person only has one liver, how can you be a living donor to start this chain?

The liver is the largest internal organ in the body. Among its jobs is helping to digest food and getting rid of waste. Unfortunately, disease and other factors can lead to liver failure.

Watch: Liver’s regenerative ability allows for living donors

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"At any given time, there's about 10,000 people waiting for a liver transplant in this country, and every year, we add another 10,000 to the waiting list," says Dr. Timucin Taner, a Mayo Clinic transplant surgeon. He adds that it can be a frustrating situation.

"The waiting list is not changing, because we're able to transplant only about 10,000 of them with deceased donor livers," he says.

What can make a difference is living donors. Even though you only have one liver, Dr. Taner says you can still be a living donor. "And this is all based on the liver's amazing ability to regenerate. Once you do this operation, you remove part of the liver. The remaining liver, as well as the part that goes to the recipient, starts growing right away, and it becomes a full-size liver within about three to four weeks. So it's an amazing capacity of the liver," he says.

Not every donor is going to be a compatible match for an intended recipient. That's where paired donation comes in, explains Dr. Taner. "So there are several situations where the donor may not be suitable or compatible with the intended recipient. In that situation, if they're clear to donate, then they can donate to somebody else who is compatible to them, and that recipient's donor can donate to the initial recipient. So we're just allowing these donors to give the gift that they're intended to give," he says.

Dr. Taner led the team that completed Mayo's first paired liver transplant in August. It was initiated by an altruistic donor. Dr. Taner says paired liver transplants are not as common as paired kidney transplants, in part because of the logistics involved. "You have to have a big team, and this big team includes nurse coordinators who work day in and day out with donors and recipients, the social work and independent liver donor advocate team, as well as the physicians, the surgeons," he says.

While the hope is to be able to do more of these procedures, Dr. Taner says the biggest hurdle is the number of donors. "So I would encourage people to look into the transplant programs to see if they can donate, and make a decision based on that information," he says.

Related Content:

• Mayo Clinic performs its first paired living liver donation

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Researchers, clinicians and innovators are invited to submit their work for presentation during the Machine Learning for Healthcare Conference, which will be held Aug. 15–16.

Mayo Clinic is hosting this year's Machine Learning for Healthcare Conference Aug. 15–16. This premier event is at the intersection of machine learning, digital health technologies and clinical practices. It will be held at the Hilton Rochester Mayo Clinic.

The Machine Learning for Healthcare Conference is an annual research meeting that brings together clinicians, medical researchers and computer scientists with expertise in artificial intelligence (AI), machine learning and big data. The conference aims to support the advancement of data analytics, knowledge discovery and meaningful use of complex medical data by fostering collaborations and idea-sharing among attendees.

"Since its inception, the Machine Learning for Healthcare Conference has fostered groundbreaking collaboration and innovation in healthcare and machine learning," says David Vidal, J.D., vice chair of Artificial Intelligence Enablement for Mayo Clinic's Center for Digital Health and the local program co-chair for the conference. "Artificial intelligence and machine learning in healthcare are imperative in helping patients and their families connect to care in new ways, and Mayo Clinic is proud to be hosting this conference to continue advancing this important work."

Register for early bird tickets to the event.

Call for papers

Researchers, clinicians and innovators are invited to submit their work for presentation during the conference.

Papers will be accepted for the Research Track and Clinical Abstract Tracks.

Research Track (Archival): The themes for the Research Track include new methods, experimental machine learning design or validation studies integrated into the clinical practice, and studies on benchmarking and ability to reproduce the methods. The submission should be 10 to 15 pages (excluding references and appendices).

If accepted, at least one author will be expected to attend the conference. The accepted papers will be published in the Proceeding of Machine Learning Research.

Clinical Abstract Track (Nonarchival): The Clinical Abstract Track papers should focus on clinical problems that could benefit from machine learning advancements or translational achievements. The papers should be no longer than two pages. If the paper is accepted, at least one author is expected to attend the conference.

The authors of the top clinical abstracts will be invited to submit an enhanced version to Mayo Clinic Proceedings: Digital Health.

Submission guidelines

If you are interested in submitting your paper for the conference, you will need to send a letter of intent through OpenReview no later than April 10. You will need to create an account to submit your letter of intent. The final paper submission deadline is April 11.

"Researchers, clinicians, and innovators are invited to submit their work to the Machine Learning for Healthcare Conference—a premier venue to showcase cutting-edge research and real-world impact," says Shauna Overgaard, Ph.D., senior director of Artificial Intelligence Enablement for the Center for Digital Health and a local program co-chair for the conference. "This is a unique opportunity to advance the field, collaborate globally, and reinforce our shared commitment to patient-centered AI."

Click here to review the complete conference timeline.

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Born into a loving family in rural Nebraska, Joy Carol was raised to appreciate nature, believe in God, and help others. Her parents also instilled in her a passion for life that is a core component of who she is.

“My family gave me that kind of feeling about life, it’s worth living. I want to live, and I'm going to live as long as I can,” says Joy, who is 85.

Her parents also nurtured her thirst for knowledge. Her home in Penney Farms, Florida, is filled with books, and she has authored or co-authored nine of her own.

“I'm a person who really wants to know, I want information,” Joy says. “I don't want to go without knowing what's going on. My dad always told me, ‘Ask more questions. If you don't know the answer, find somebody who might know.’”

That philosophy kept her motivated to push for answers throughout her 2013 medical ordeal when a paraneoplastic neuroautoimmune disorder almost took her life.

“I believe in testing because information is power,” Joy says. “And anyone who says, ‘I don’t want to have a test done,’ I think is foolish. You’re wise if you say, ‘I am ready to find out, and then let’s see what we can do.”

When the usual tests performed on Joy did not yield answers, a member of her New York City medical team sought outside help and sent Joy’s specimen to Mayo Clinic Laboratories.

“A couple of her original physicians with perseverance found the right test,” says Joy’s neurologist Kurt Jaeckle, M.D., emeritus professor of neurology at Mayo Clinic. “It completely reversed the whole situation with respect to her medical condition. I think that she might not be alive if that test had not been done. That's how powerful it was in this situation.”

A slow, uphill climb

When Joy learned the specific reason for her body’s sudden decline — a paraneoplastic autoimmune disorder identified by Mayo Clinic Laboratories antibody testing — and that treatment was available, she gratefully embraced therapy.

The first stage of her treatment involved surgical removal of the breast cancer and affected lymph nodes. As soon as she’d recovered from surgery, Joy underwent chemotherapy and radiation to target the remaining cancer cells.

Next, because the antibodies in her immune system continued their affront on her nerve cells, Joy underwent plasmapheresis to remove the harmful proteins from her blood. But that process, which entails removing the blood, cleaning it by spinning it through a centrifuge to separate and remove the antibodies, and then reinserting it, failed to improve her symptoms.

As a next step, Joys’ New York healthcare team started her on Rituxan, a biologic drug with the ability to interfere with the body’s immune response. The aggressive therapy was delivered slowly via infusion over the course of many hours to prevent side effects that could be fatal to Joy given her diminished state.

“I was on Rituxan for five weeks before I started to be able to turn over in bed, so that was really the beginning of my new life,” Joy says.

During one of Joy’s frequent appointments with her New York City neurological team in the months following diagnosis, she learned about a physician who specialized in paraneoplastic autoimmune disorders who was willing to treat her. That doctor was Kurt Jaeckle, M.D.

“When I was told there was a doctor at Mayo Clinic in Florida that knew something about this illness and might be able to treat me, I finally decided I needed to leave my beloved New York,” Joy says. “And I left everything. I gave things away. I sold my apartment. I only took my easy chair, a few clothes, a few books, some tchotchkes, and I came to Florida to be close to Mayo Clinic.”

When Dr. Jaeckle first met Joy, she was on her road to recovery. Her breathing ability and ability to talk were returning to baseline, but she continued to struggle with walking and controlling her arms.

“There was quite a lot to do in terms of just her mobility and getting her to walk normally and up on her own two feet — that had not gotten to where it could be,” Dr. Jaeckle says.

Never give up

Little by little, with ongoing physical therapy, Joy began to heal.

“Of course, I have this spirit that was not going to ever give up,” Joy says. “I was so scrawny I couldn’t even lift up a one-pound weight.”

Eventually, Joy regained enough strength to stand and move her legs.

“What I’ve seen happen over the years is that with constant therapy, she’s made it back,” Dr. Jaeckle says. “She uses some assistance with devices that help her walk, but in all honesty, she can even walk a few steps on her own. She was bedbound when she started with me. I’ve seen that recovery over the last 10 years to where she’s gotten to do things all on her own.”

Not long after transitioning care to Dr. Jaeckle, Joy stopped taking the Rituxan and began steroid therapy. Administered every other month, the treatment’s side effects are much more manageable.

The resilience Joy has exuded throughout her medical journey has been impressive, Dr. Jaeckle says. “Her fortitude in dealing with this, she does these exercises at home on her own without provocation. She doesn't need anyone to encourage her, she does that herself. She doesn’t let anything stop her. She comes alone to the clinic and is taking trips overseas, and things that I might not do myself, so it’s quite surprising.”

The strength Joy has shown in reclaiming her life is rooted in another lesson her parents taught her.

“I have a sign on my refrigerator door, which says, Falling down is part of life. Getting up is living,” Joy says. “And then I have the sign, of course, Never, never, never give up, which my father always told me too.”

An ongoing testing journey

As part of Joy’s care, she receives laboratory testing several times each year to check her antibody levels and cancer status.

“In this situation, the antibodies are measurable in certain amounts in the bloodstream, and if you see a drop in the antibody titer that means you’re in the right direction,” Dr. Jaeckle says. “Whereas if it’s going up, you’re going in the wrong direction or the tumor is back.”

For many years Joy’s antibodies have been undetectable. “They’re gone, but if it were to rise again, we would be suspicious and we would start looking for the cancer,” Dr. Jaeckle says.

Because the condition will be with her for the rest of her life, Joy relies on testing to know if her illness is advancing.

“I can’t imagine not testing and seeing where I stand, how my antibodies are doing, how my blood is doing, how the treatments I am getting might have an impact on some of my vital organs,” Joy says. “It all fits together and I believe that is why I am doing so well. So poke me, X-ray me, do whatever you need to because it is the way I will be a happy, healthy patient.”

For patients like Joy, laboratory testing is crucial to providing the best possible patient care.

“I don’t think we could function nearly as well without the testing,” Dr. Jaeckle says. “It has to be used properly and judiciously, but when used in that fashion, it becomes very powerful in assisting us with not only making a diagnosis, but also monitoring the response to therapy. I don’t know how you could get by without that type of testing and take care of people properly.”

Moving into the future with gratitude

Supported by her Mayo Clinic team, Joy continues to feel well and has no plans to slow down.

“Life is not always easy, it can be very difficult — it has been for me — but I still say I am going to find something in my life that is worth living for.”

For Joy, that means continuing to be involved in her community: singing with her choir, preaching in her church, gardening in her backyard, traveling, and visiting friends.

“I’m one of these people who has endless energy and as long as I am alive, I will be involved in something,” Joy says. “There is no way I am going to just be sitting there watching television or playing cards — I am going to be doing something that’s meaningful for me and hopefully for others. I really know as long as I have hope and I can still plant one flower in my garden and I'm still feeding the hummingbirds in my backyard and I can still sing, I have something to live for.”

This article first appeared on the Mayo Clinic Laboratories blog. That's where you can also view all episodes of “Life of a Specimen.”

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ROCHESTER, Minnesota — It is a large part of the body that lies deep inside, out of sight and perhaps out of mind: your abdominal core. A new and rapidly developing area of medicine focuses on abdominal core health, including how people can incorporate it into a healthy lifestyle and how to address complex medical problems that arise when it is compromised. Dr. Charlotte Horne, a metabolic and abdominal wall reconstructive surgeon at Mayo Clinic, explains what abdominal core health is, how to protect it and risk factors for problems that may require surgery.

"The abdominal core is the outside muscular container of your abdominal wall," Dr. Horne says. "This starts at the diaphragm and goes all the way down to the pelvic support muscles. Most of the core is muscle and connective tissue. It's a muscular container that holds your internal organs in. Every time you breathe, bend, bear down to have a bowel movement, you're using these muscles."

The abdominal core includes abdominal muscles that people may think of as the "six-pack," and oblique muscles and tissue that wrap all the way around the upper part of the abdomen and connect to the midline of the body, Dr. Horne adds. Many nerves lie between the layers of muscle and tissue, including those that extend to the groin, thighs, back and hips.

Those muscles function as a unit and that unit needs to operate well for you and your body to perform daily activities, Dr. Horne says. One way to strengthen the structural integrity of your abdominal core is to engage it during your normal activities, she explains: You do not have to do thousands of sit-ups or become a bodybuilder.

"One of the things we're realizing is that we need to educate people how to appropriately engage those muscles when they do everything from going from lying to sitting and sitting to standing, lifting objects and other basic movements in their daily lives," she says. "When people do yoga or Pilates, they think about pulling their belly button into their spine. That helps stabilize the deeper muscles of the abdominal wall."

Improving abdominal core health involves conscious engagement of the abdominal muscles, "bringing everything in and holding it in," Dr. Horne says. 

Risk factors for abdominal core problems are wide-ranging. They include cancer treatment; inflammatory bowel disease; chronic or severe coughing; and complications from pregnancy (diastasis recti) and surgery. The most common problems are hernias, when part of an organ or tissue bulges through a weak spot in muscle.

"Coughing can cause large hernias. When you're coughing, you're bearing down and there is a sudden, acute change in intra-abdominal pressure, almost like punching from the outside in or from the inside out," Dr. Horne explains. "When you're doing that all of the time, it causes significant stress to your abdominal wall."

Avoiding smoking and excessive alcohol consumption can help protect abdominal core health. Smoking increases the risk of chronic coughing, while heavy alcohol consumption to the point of cirrhosis can cause hormonal changes that in turn weaken the abdominal wall, Dr. Horne says. 

As knowledge about abdominal core health grows, approaches to protecting it and healing it are advancing, Dr. Horne says. For example:

• Pregnancy causes muscles to expand to accommodate a baby, and sometimes those muscles do not go back to normal. Exercise regimens during and after pregnancy can help to stabilize them.
• Healthcare experts are realizing that restrictions on movement after surgery may not help and sometimes may be harmful. Rather than telling people not to lift anything, it may be more appropriate to explain how to safely reengage those muscles and tendons, Dr. Horne suggests.
• People with inflammatory bowel disease are likelier to have surgery and therefore are likelier to develop hernias. Surgeons now know that in those patients, mesh should be placed in different anatomic planes to prevent the mesh from touching the bowel and potentially causing problems later, Dr. Horne says.
• Pelvic floor physical therapy can help women experiencing urinary or fecal incontinence after pregnancy or menopause, she says.
• There is growing recognition that mesh used to repair hernias isn't one-size-fits-all. Dr. Horne's research focuses on hernia repair in women, including mesh and mesh techniques.

In her practice, Dr. Horne specializes in complex hernia surgeries.

"Most of the patients that I care for have more of their abdominal contents outside of their abdominal cavity than inside," she explains.

Even with hernias as large as 10 to 15 centimeters, surgeries can be performed with a robot to minimize the incision, or can be done with a mix of robotic surgery and minimal open surgery, Dr. Horne says. She uses 3D-printed models to help plan surgeries. Sometimes Botox is used to lengthen the abdominal wall muscles, she adds.

"The best part is that patients go from a dysfunctional abdominal wall to one that is functional within about a week in the hospital," Dr. Horne says. "Seeing them at their checkup a year later is the best thing because they go from saying `I couldn't do anything' to `I've gone on all these trips, I've done all these things that I've wanted to do for years but haven't been able to.' They are so happy that they can put that whole thing behind them, which is great."

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Media contact:

• Sharon Theimer, Mayo Clinic Communications, newsbureau@mayo.edu

The post Your abdominal core: Expert shares tips for protecting a part of the body you may not think about   appeared first on Mayo Clinic News Network.

When Vicki Tennant came to Mayo Clinic for answers about her heart condition, she never expected to be at the center of a medical breakthrough. But her case led Mayo Clinic researchers to identify a previously undetectable genetic phenomenon.

Most genetic diseases are linked to protein-coding regions, which is also where standard testing has been focused. The discovery based on Tennant's case, published in Circulation: Heart Failure, was that disease-causing variants can hide in areas of DNA that don't make proteins.

Specifically, a tiny glitch in one of these regions, combined with a known mutation, was enough to cause Tennant's disease. 

"The level of care and expertise at Mayo Clinic is something I've never experienced," Tennant says. "It’s amazing to think that what they found in me could change how doctors diagnose others."

A clue hidden in the heart

In her home state of Iowa, Tennant had been diagnosed with hypertrophic cardiomyopathy, a genetic condition that thickens the heart muscle and increases the risk of heart failure. But her case didn't follow the usual pattern.

She had an irregular heartbeat that required several procedures to restore a normal rhythm, and she had also had a stroke. Her cardiologist in Iowa referred her to Mayo Clinic for further evaluation.

At Mayo Clinic, what began as a closer look at Tennant’s heart tissue by cardiologist Jeffrey Geske, M.D., quickly gained momentum. Pathologist, Joseph Maleszewski, M.D., examined the biopsy and identified microscopic abnormalities that indicated the need for further investigation.

Around the same time, Tennant underwent a routine gallbladder surgery in Iowa. A liver biopsy performed during that procedure also revealed abnormalities, prompting Tennant to ask her Mayo team to review the findings. That request helped deepen the investigation into the underlying cause of her health issues.

When standard clinical genetic testing did not yield an answer, Dr. Geske asked Naveen Pereira, M.D., a cardiovascular genomicist, to take a closer look at Tennant's DNA. Dr. Pereira searched Tennant's genome for hidden patterns and anomalies.

He found that Tennant had one known disease-causing mutation in a gene responsible for producing an enzyme that prevents substances from accumulating in the cell. Normally, two mutations are needed to cause a genetic condition called mucopolysaccharidosis type IIIA. But something still didn't add up — besides having only one variant, Tennant lacked some of the typical symptoms of the disease.

Dr. Pereira conducted additional lab tests to check for signs of the condition in her cells, however, which led to confirming it as her diagnosis.

Mucopolysaccharidosis type IIIA usually appears in early childhood and causes progressive neurological decline. But Tennant, in her 40s, had no signs of neurological issues. In her, the condition showed up as heart disease — an unexpected and atypical presentation that added to the mystery.

A genetic mystery unfolds

With unanswered questions remaining, Dr. Pereira expanded the team, bringing in experts from Mayo Clinic's Center for Individualized Medicine: Filippo Pinto e Vairo, M.D., Ph.D., medical director of Mayo Clinic’s Program for Rare and Undiagnosed Diseases; Eric Klee, Ph.D., the Everett J. and Jane M. Hauck Midwest Associate Director of Research and Innovation; and Laura Lambert, Ph.D., director of the Functional Omics Resource Laboratory.

The team applied advanced sequencing and analysis methods to search beyond the usual areas of the genome. That's when they made another discovery.

"We found a variant in a stretch of DNA located between two genes — it's a region often missed by standard genetic testing because it doesn't code for proteins," says Dr. Pinto e Vairo. "Now we had to prove it was actually disrupting how the gene worked and contributing to the disease in our patient."

To validate the finding, Dr. Lambert and the Functional Omics Resource Laboratory team used innovative, light-based methods to test whether the DNA change was interfering with how the gene worked.

"This gave us the functional proof we needed to confirm that this variant was actually causing disease," Dr. Lambert says.

Combined with the known mutation previously identified by Dr. Pereira, this hidden change provided the missing explanation for Tennant's condition.

"This finding is a testament to the transformative potential of looking beyond the expected," Dr. Klee says. "It underscores how advancements in genomics and technology are enhancing our ability to understand the impact of an increasing number of genetic changes."

Together, these insights revealed an entirely new way genetic disease can emerge and take shape.

"This discovery highlights the strength of integrating advanced genomic science with clinical expertise to solve some of medicine's most complex mysteries," says Dr. Pereira. "This finding could help change our approach and diagnose other patients with unexplained conditions, and expand the scope of precision medicine."

A long-awaited answer

For Tennant, the discovery has provided long-sought clarity. She enjoys working on her farm, spending time outdoors and operating her tractor — all activities she now approaches with a deeper understanding of her health.

While there is no cure for Mucopolysaccharidosis type IIIA with cardiac involvement, her diagnosis allows for more precise monitoring and offers hope for potential future treatments, including gene therapy.

"I also hope this helps someone else," Tennant says. "If sharing my story means someone gets diagnosed sooner, then it's all worth it."

For a complete list of authors, disclosures and funding, review the study.

The post Hidden mutation leads to groundbreaking genetic discovery appeared first on Mayo Clinic News Network.