Medicina de laboratorio y patología

1. 

   FISH testing helps detect unseen cancer cells

   On the brink of losing her battle with acute myeloid leukemia, Shannon Camlek arrived at Mayo Clinic as a last hope. Her chances didn’t look good, but with the help of specialized genetic testing, particularly FISH (fluorescence in situ hybridization) studies, doctors were able to detect the specific gene mutations responsible for her symptoms and disease. The test results also helped Shannon’s care team target her treatment accordingly, and finally put an end to what…

2. 

   Ceramide testing reveals risk of heart attack

   Red meat and high-starch foods like mashed potatoes were the family fare while Stephanie Blendermann was growing up in Long Island, New York. Her father was a butcher after all, and a smoker, who eventually required bypass surgery for clogged arteries. And tragically, three of her sisters died prematurely (in their 40s and 50s) from heart attacks. So as she approached 65, even though her LDL (or “bad”) cholesterol levels were fine, Stephanie was concerned…

3. 

   Reclaiming strength and independence after rare cancer diagnosis 

   The year was 2019. Alexa Lofaro was in her happy place, inside Nassau Veteran's Memorial Collesium in Uniondale, New York, watching the New York Islanders play hockey. As she made her way to her seat, another fan’s words caught her off-guard. “As I walked by him, he said, ‘Get home safely,’” Alexa says. “He thought I was drunk. I wasn’t drunk.” Instead, Alexa’s slow, cautious walk down the arena stairs was to compensate for the…

4. 

   Regaining quality of life after a decade lost to misdiagnosis: Kelly Dubois

   Kelly DuBois doesn’t remember her 30s much at all. That decade of her life was essentially “stolen” from her thanks to a series of misdiagnoses, a botched brain surgery, and a host of medications that caused more side effects than benefits. After 12 years of failing health, had she not come to Mayo Clinic — where pharmacogenomic testing revealed polymorphisms (genetic mutations) that were causing her body to metabolize her meds in harmful ways —…

5. 

   Living in the moment: Susan Parrott

   As someone affected by chronic liver disease, Susan Parrott knows how it feels to live in uncertainty. But every few months, the anxiety and doubt that shadow her life fade when Mayo Clinic Laboratories test results confirm her condition is in check and she can continue living life on her own terms. Every three months, Susan Parrott, who has liver cirrhosis, breathes a sigh of relief. Gone is the weight associated with having a diseased…

6. 

   Staying the course through follow-up care and therapeutic drug monitoring

   For most of his adult life, Billy Dowell Jr. has lived with a serious immune-mediated disease process that has threatened not only his dream of playing professional golf, but his very existence. His illness caused painful pelvic joint inflammation, resulted in a perforated bowel, and led to glaucoma. It’s been ongoing, unrelenting, and extremely unpleasant. “I’ve been through the roughest of the rough,” says Billy, a resident of Jacksonville, Florida, who moved there in May…

7. Unraveling a diagnostic mystery

   Ed and Nancy Garber have been married for 49 years, but together for much longer than that. “Since high school,” Nancy says. “We’re high school sweethearts.” With a relationship that deep, it should come as no surprise that Nancy was the first to notice a change in Ed’s health. “In the spring of 2020, I noticed Ed was a little quieter than normal,” she says. “He was also tired and having difficulty with his right…

8. 

   Collaboration that changes lives

   Elyn Simmons was 31 years old and eager to start a family with her husband, Guy. But in 2016, she was diagnosed with a hormonal disorder — PCOS, or polycystic ovary syndrome — that causes fertility problems. Then Elyn began experiencing other symptoms, including unexplained weight gain, increased body hair, migraines, and severe fatigue. Teamwork by Mayo Clinic clinicians and specialists in Mayo’s Department of Laboratory Medicine and Pathology found the source of Elyn's problem. In 2018, she was…

9. 

   A new path forward

   From the beginning of Hussein’s life, a shroud of worry surrounded him. Something was wrong. The infant couldn’t keep down anything he ate. When he was 6 weeks old, his mother, Manal, noticed blood in his stool. He lost precious weight and was hospitalized due to failure to thrive. Hussein’s first few months were defined by medical tests, painful procedures, and uncertainty. “YOU NAME IT, THEY TESTED HIM FOR IT,” HUSSEIN’S FATHER, ALI, SAYS. “THEY…