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Cancer, Chronic Disease, Dermatology, Stanford News, Surgery, Transplants

Rebuilding Cassie’s smile: A lung transplant patient’s struggle with skin cancer

lung patientWhen I first met Cassie Stockton, she was seated in an exam chair in Stanford’s dermatology clinic, getting cosmetic skin treatments. Lovely and young, just 21 years old, it seemed a bit silly. How could she possibly need injectable lip fillers or laser skin treatments?

I knew Stockton had a lung transplant at 15 and that the immunosuppressant drugs she was required to take to keep her body from rejecting the donated lungs had made her susceptible to skin cancer. But it wasn’t until I researched her story in depth that I truly understood how she ended up needing regular cosmetic treatments here.

As I explain in my recently published Stanford Medicine article, her story began at birth:

Born premature, [Cassie] was intubated the first two weeks of life, then sent home with her mother and an oxygen tank. She remained on oxygen 24 hours a day for the first two years of her life. Eventually, she was diagnosed with bronchopulmonary dysplasia, a chronic lung disorder …

Sixteen years later, the donated gift of new lungs saved her life – but it left scars, both emotional and physical:

The day Stockton woke up out of the anesthesia six years ago after a 13-hour surgery at the Transplant Center at Lucile Packard Children’s Hospital Stanford, she breathed in oxygen with newly transplanted lungs, and breathed out sobs. Tears streamed down her face. “At first, I thought she was in pain,” says her mother, Jennifer Scott, who stood by her side. But that wasn’t it. Stockton was overwhelmingly sad because she now knew her new lungs were the gift of a child. It was Dec. 6, 2009, just before Christmas. The death of someone else’s child had given her a whole new life.

And now:

Every four months, she and her fiancé make the four-hour drive from their home in Bakersfield, California, past the oil rigs and cattle farms to Stanford’s Redwood City-based dermatology clinic for her skin cancer screening. It’s been two years of treatments: freezings, laserings, a total of eight outpatient skin surgeries — the most significant resulting in the removal of the left half of her lower lip. The dermatologic surgeon removes the skin cancers, and then gets to work to repair the damage. “It’s heart-breaking to have to remove the lip of a 21-year-old woman,” says Tyler Hollmig, MD, clinical assistant professor of dermatology and director of the Stanford Laser and Aesthetic Dermatology Clinic, who leads Stockton’s treatment and keeps her looking like the young woman she is, restoring her skin, rebuilding her lip, making sure she keeps her smile.

Stockton doesn’t complain about any of the struggles she’s had post transplant. She knows she got a second chance at life. And, she tells me, it’s her job to take care of the lungs given to her by that child who died.

Previously: This summer’s Stanford Medicine magazine shows some skin
Photo by Max Aguilera-Hellweg

Cardiovascular Medicine, Chronic Disease, In the News, Research, Stanford News, Transplants

Are donor hearts getting wasted?

Are donor hearts getting wasted?

heart choiceI wrote a press release recently on a study that showed a high percentage of donated hearts were not being used, raising concerns that some were getting wasted when they could be used to save lives. This made me curious about the process of just how a donor heart, which ideally has about a two-hour window before it gets transplanted to a patient with heart failure, gets matched.

The result is a Stanford Medicine magazine story titled “Heart Choices” that describes this process, the tough decisions that family members make when a loved one donates a heart, and the excruciating waiting that patients in need of a new heart go through.

Most importantly the article asks the question: Should more “high-risk” donor hearts be used? An estimated 20,000 people across the country are waiting for new hearts, and only a few thousand transplants happen on average per year. My story explains the dilemma:

The general assumption is that there simply are not enough donor hearts available to meet a growing demand. But new research is questioning that assumption. Some researchers and surgeons claim that thousands of donor hearts that could be used are turned away each year. The hearts are considered marginal because they come from older, sicker or riskier donors, but many argue they are safe for transplant, and could be saving lives.

“As patients wait longer, they often get sicker, and we often lose patients,” says Stanford cardiologist Kiran Khush, MD, whose research reports that 65 percent of available heart donations are discarded because of stringent acceptance criteria. Yet the criteria have not been critically evaluated, she says. “Increasing the supply of donor hearts is, of course, a great concern of mine.”

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Cardiovascular Medicine, Chronic Disease, Imaging, Research, Stanford News, Technology

DNA damage seen after CT scanning, study shows

DNA damage seen after CT scanning, study shows

16288548276_e155ec8843_zUsing new laboratory techniques, Stanford scientists have been able to get a closer look at what happens inside the cells of patients undergoing medical imaging techniques. In a study published today, their research clearly shows that there is cellular damage in heart patients after CT scanning.

The researchers explained to me in interviews for a press release on the study that this doesn’t link CT scans to cancer. But as Patricia Nguyen, MD, lead author said in the release, it is further indication for caution:

“Whether or not this (cellular damage) causes cancer or any negative effect to the patient is still not clear, but these results should encourage physicians toward adhering to dose reduction strategies.”

Due to an explosion in the use CT scans for heart patients over the past decade, public health concerns have been raised over whether there might be a causal link with cancer. But until now, little has been known about exactly what happens at a cellular level when patients undergo CT scanning, a type of medical imaging which exposes them to low-dose radiation. This study took advantage of new laboratory techniques that made it possible to look inside cells of patients after they underwent CT scanning. As Nguyen explained in my release:

“Because we don’t know much about the effects of low-dose radiation — all we know is about high doses from atomic bomb blast survivors — we just assume it’s directly proportional to the dose. We wanted to see what really happens at the cellular level.”

Researchers examined the blood of 67 patients undergoing cardiac CT angiography using such techniques as whole-genome sequencing and flow cytometery to measure biomarkers of DNA damage. The results:

… showed an increase in DNA damage and cell death, as well as increased expression of genes involved in cell repair and death, the study said. Although most cells damaged by the scan were repaired, a small percentage of the cells died, the study said.

“These findings raise the possibility that radiation exposure from cardiac CT angiography may cause DNA damage that can lead to mutations if damaged cells are not repaired or eliminated properly,” the study said.

Photo by frankieleon

Big data, BigDataMed15, Chronic Disease, Videos

Discussing patient participation in medical research: “We had to take this into our own hands”

Discussing patient participation in medical research: "We had to take this into our own hands"

Keynote talks and presentations from the 2015 Big Data in Biomedicine conference at Stanford are now available on the Stanford YouTube channel. To continue the discussion of how big data can be harnessed to improve the practice of medicine and enhance human health, we’re featuring a selection of the videos on Scope.

Two days before Christmas in 1994, Sharon Terry’s two young children were diagnosed with pseudoxanthoma elasticum (PXE), a rare condition that causes calcium and other minerals to be deposited in the body’s tissue. As Terry told the audience at the 2015 Big Data in Biomedicine conference, “[My husband and I] quickly learned that we, in fact, had to take this into our own hands, like many parents have done before us and many parents have done after us.” Despite not having a science background, Terry co-discovered the gene associated with PXE and created a diagnostic test for the disease; over the years, she has conducted clinical trials and authored 140 peer-reviewed papers, of which 30 are PXE clinical studies.

In the above video, Terry recounts the inspiring journey of how she and her husband worked for two decades with scientists worldwide to advance research on PXE in hopes of developing therapeutic treatments. She also explains her current work as president and CEO of Genetic Alliance to help individuals, families and communities participate in scientific research and promote the sharing of health data to improve health.

Previously: A look at aging and longevity in this “unprecedented” time in history, Parents turn to data after son is diagnosed with ultra-rare disease, Nobel Laureate Michael Levitt explains why “biology is information rich” at Big Data in Biomedicine, At Big Data in Biomedicine, Stanford’s Lloyd Minor focuses on precision health and  Experts at Big Data in Biomedicine: Bigger, better datasets and technology will benefit patients

Chronic Disease, Research, Stanford News, Videos

“This is probably one of the last major diseases we know nothing about”: A look at CFS

“This is probably one of the last major diseases we know nothing about": A look at CFS

Chronic fatigue syndrome affects between 836,000 to 2.5 million people in the United States, and 25 percent of them are confined to their bed. Earlier this year, the Institute of Medicine released a report acknowledging that chronic fatigue syndrome is a real and serious disease and renaming the disorder “systemic exertion intolerance disease” to better reflect its key symptoms.

The current issue of Palo Alto Weekly focuses on the disease and tells the story of local resident Whitney Dafoe, a promising 31-year-old photographer whose career was cut short when he began experiencing crushing fatigue, dizziness, gastrointestinal problems and dramatic weight loss:

Dafoe’s disease has progressed to the point that he cannot talk, read or use the Internet. His joint pain became so severe some time ago that he could no longer walk and needed to use a wheel chair. Now he rarely gets out of bed. On a good day, he’ll show his gratitude by pointing to his heart, his mother said.

His parents have stuck a few brief messages he’s scrawled on notes to the door frame outside his room. The yellow squares of paper are the only way he can communicate these days.

“I don’t know what to say. I just feel pretty hopeless about all this. I never get a break from bad things,” he wrote on one note.

“It’s so hard not being able to take care of my stuff. The feeling of helplessness it gives me is so stressful,” another states.

Dafoe, who is also featured in the above video, is the son of Ronald Davis, PhD, a genetics researcher who was instrumental in the Human Genome Project and directs Stanford’s Chronic Fatigue Syndrome Research Center. A second article details how Davis and colleagues are working to better understand the debilitating disease and develop diagnostic tests and treatments:

Davis and his team plan to use technologies developed for the Human Genome Project to sequence the entire genome of chronic fatigue patients, including 1,600 mitochondrial genes, more than 20,000 other genes and control regions that regulate genes. They hope to identify proteins that are found in immune cells, blood and spinal fluid; search for infectious agents in blood, bone marrow, spinal fluid and saliva and changes to gastrointestinal tract flora; and find evidence of autoimmune responses. The research could reveal DNA sequences that are altered in chronic fatigue patients.

The detailed approach is more comprehensive than that of other research, which has only looked at a fraction of the genes, according to the center’s website.

Davis is working with numerous collaborators across many fields, hoping the collaborative effort will attract the best minds in their fields.

“This is probably one of the last major diseases we know nothing about. This is your last chance to be a pioneer,” he said.

Previously: ME/CFS/SEID: It goes by many aliases, but its blood-chemistry signature is a giveawayChronic fatigue syndrome gets more respect (and a new name), Studies on ME/chronic fatigue syndrome continue to grab headlines, spur conversation, Unbroken: A chronic fatigue syndrome patient’s long road to recovery and Deciphering the puzzle of chronic fatigue syndrome

Chronic Disease, Patient Care, Pediatrics

On growing up with chronic illness: “I’ve never felt like I had ownership over my body”

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from a patient with Crohn’s disease.

woman-body-144220_1280

As a child who was diagnosed with Crohn’s disease at the age of nine, I learned to give my power over to my doctors and parents. I never questioned the constant prodding, the pain that I had to endure from different tests and exams, the dozen pills that I swallowed down each day, because after all, I was to trust doctors and adults. They knew what was best for me. They knew what was best for my body. And of course, this is true – but only to an extent. Please hear me out.

In no way am I undermining the miraculous work that medical professionals do each and every day. I am beyond grateful for the way that my disease was handled, I was given a fairly normal childhood because of the way my medical team was able to manage my disease. And on top of that, I have the most incredible parents who handled my disease beautifully; they allowed me to feel supported, loved and taken care of. Honestly, I just had to show up for doctor appointments, swallow pills, and be a kid. I left the details up to the adults.

But then I started growing up. High school, boys, and school dances became my new normal. I lost my power at the age of 17 when I was date raped. Although I attempted to say “no” and stick up for myself, I ultimately didn’t know how to confidently do this. I didn’t know how to command respect because I was so used to never being asked to say “yes.” Unfortunately, this situation snowballed into another date rape and ultimately a suicide attempt. I truly felt detached from my body. It wasn’t mine. I didn’t know how to handle it. I despised it. It was the source of so much pain. And so, I wanted to leave it.

I never connected my inability to stick up for myself with being a child of chronic disease until the last couple of years. As I reflect back, the correlation is so clear. I never was taught to question what my doctors did to my body. I cannot recall being asked if it was “okay” to be examined or to be touched. If I was in a doctor’s office, it was just assumed and expected. To be clear: There was absolutely never anything inappropriate that happened to me in my doctors’ care. I think the only reason that the perceived lack of power on my side affected me is because I was a child, and I didn’t have the capability to differentiate the way I handled my body in the care of a doctor versus the hands of a teenage boy.

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Chronic Disease, Global Health, Health Policy, Public Health, Research, Stanford News

Finding the sweet spot in public health law to regulate sugary drinks

Finding the sweet spot in public health law to regulate sugary drinks

lemonade-155663_1280Two Stanford public health law experts say one of the biggest culprits of the obesity epidemic – on top of fast foods and sedentary lifestyles – is sugary drinks. And they believe the sweet spot for public health law in curbing the adverse effects of sugar-sweetened beverages (SSBs) lies in the strategic use of measures such as higher SSB taxes, limits on advertisements targeting kids, and restrictions on soft drinks and sugar-sweetened teas and sports drinks in government institutions, such as public schools.

“Enough is already known about the promise of some legal interventions to curb SSB consumption – significant tax hikes and advertising restrictions are two good examples – to be fairly confident that they would make a difference,” says David Studdert, MD, a professor in the medical and law schools and a core faculty member at the Center for Health Policy/Center for Primary Care and Outcomes Research.

Studdert is the lead author of a review paper, “Searching for Public Health Law’s Sweet Spot: The Regulation of Sugar-Sweetened Beverages,” which was published today in PLoS Medicine.

Studdert and senior author Michelle Mello, MD, also a professor in the medical and law schools, and co-author Jordan Flanders, a former Stanford Law School student, argue that sugary drinks are a substantial, yet preventable contributor to the global burden of obesity and associated health conditions.

A recent study in the journal Circulation linked the consumption of sugary drinks to an estimated 184,000 adult deaths each year, with more than 25,000 of those Americans. While Americans’ consumption of sugary drinks has plateaued, according to the research, about three-fourths of the deaths due to SSBs are now in developing countries. Mexico leads with 24,000 total deaths. The United States still ranks fourth, however, just behind South Africa and Morocco.

The Stanford researchers say the evidence shows that sugary drinks are contributors to the global obesity epidemic, but the appropriate reach of regulation to curtail SSB consumptions remains highly contested.

“Finding public health law’s sweet spot requires regulatory approaches that are capable both of achieving measurable improvements to public health and of winning victories in courts of law and public opinion,” they wrote.

That’s often difficult.

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Chronic Disease, Neuroscience, Pregnancy, Research, Women's Health

Women with epilepsy face elevated risk of death during pregnancy and childbirth – but why?

Women with epilepsy face elevated risk of death during pregnancy and childbirth - but why?

5987537049_ed5eff3b31_zWomen with epilepsy face a higher risk of death and a host of complications during their pregnancies than other women, according to a new study published today in the Journal of the American Medical Association Neurology.

The researchers found women with epilepsy had a risk of 80 deaths per 100,000 pregnancies, more than 10 times higher than the risk of 6 deaths per 100,000 pregnancies faced by other women.

That’s a big deal, neurologists Jacqueline French, MD, from NYU Langone Medical Center, and Stanford’s Kimford Meador, MD, write in an accompanying editorial.

“The study should sound a major alarm among physicians and researchers,” French and Meador write. But, it fails to answer an integral question, they say: Who exactly is at risk and why did the women die?

Women with epilepsy are more likely to have hypertension, diabetes and a variety of psychiatric conditions. Are those conditions responsible for the differences in death rates, the authors question.

The study also fails to distinguish between women with well-controlled epilepsy and those continuing to suffer seizures. “These are critical questions, and, without the answers, we are left in the unsatisfying position of having to advise all women with epilepsy that they may be at higher risk,” French and Meador write. The study “raises far more questions than it answers. Most women with epilepsy have uncomplicated pregnancies.”

The authors conclude: “Future studies need to confirm and build on the present findings to improve the care of women with epilepsy during pregnancy.”

Previously: Treating intractible epilepsy, Ask Stanford Med: Neurologist taking questions on drug-resistant epilepsy and How epilepsy patients are teaching Stanford scientists more about the brain
Photo by José Manuel Ríos Valiente

Big data, BigDataMed15, Chronic Disease, Genetics, Videos

Parents turn to data after son is diagnosed with ultra-rare disease

Parents turn to data after son is diagnosed with ultra-rare disease

Keynote talks and presentations from the 2015 Big Data in Biomedicine conference at Stanford are now available on the Stanford YouTube channel. To continue the discussion of how big data can be harnessed to improve the practice of medicine and enhance human health, we’re featuring a selection of the videos on Scope.

Four years ago, Matthew Might, PhD, and his wife, Christina, learned that their son Bertrand was the first person to be diagnosed with ultra-rare genetic disorder called N-Glycanase Disorder. At the 2015 Big Data in Biomedicine conference at Stanford, Might recounted the story of his son’s medical odyssey and explained how a team of Duke University researchers used whole-exome sequencing, which is a protein-focused variant of whole-genome sequencing, on himself, his wife and Bertrand to arrive at his son’s diagnosis.

Watch the video above to find out how Might and his family, who turned a deaf ear to doctors’ advice that nothing could be done for their son, harnessed the power of the Internet to identify 35 more patients with the same disorder and are now leading the charge in helping scientists better understand the disorder.

Previously: Nobel Laureate Michael Levitt explains why “biology is information rich” at Big Data in Biomedicine, At Big Data in Biomedicine, Stanford’s Lloyd Minor focuses on precision health, Experts at Big Data in Biomedicine: Bigger, better datasets and technology will benefit patients, On the move: Big Data in Biomedicine goes mobile with discussion on mHealth and Big Data in Biomedicine panelists: Genomics’ future is bright

Chronic Disease, Genetics, Health Disparities, Pediatrics, Research, Stanford News

Cystic fibrosis is deadlier for Hispanic patients, Stanford study finds

Cystic fibrosis is deadlier for Hispanic patients, Stanford study finds

Lungs-embroideryHow do physician-scientists select research projects? Sometimes, they’re prompted by the niggling feeling that something is not right.

That’s what happened to cystic fibrosis doctor MyMy Buu, MD, the lead author on a new paper that uncovers an important health disparity, a higher mortality rate for CF patients of Hispanic ethnicity. Buu, a pediatric pulmonologist who takes care of CF kids at Lucile Packard Children’s Hospital Stanford, launched the research because she noticed something worrying: It seemed to her that a lot of Hispanic children with CF were not doing well.

“…I didn’t know if this was just because we have more Hispanic patients in California, or if they were actually, really, sicker,” Buu said. CF is a genetic disease that causes serious breathing and digestive problems; Buu’s job is a mixture of trying to help her patients stay relatively healthy and dealing with complications of the disease.

“Because I’m interested in health disparities, I wanted to see if there were any differences in outcomes in the Hispanic group,” she said.

She turned to the Cystic Fibrosis Foundation‘s patient registry, focusing on 20 years of data that encompass every California child diagnosed with CF from the beginning of 1991 to the end of 2010. Of the children studied, Hispanic CF patients were almost three times as likely to die as their non-Hispanic counterparts.

Buu and her colleagues were able to use the data to eliminate several possible explanations for the disparity. Hispanic children were not being diagnosed later than non-Hispanic kids and did not have less access to health care, for instance. Our press release about the study describes the factors that may contribute to the disparity:

However, the researchers did find important clinical and social differences between the groups. At age 6, the earliest that lung function is routinely and reliably measured for patients with CF, Hispanic children with CF had worse lung function than non-Hispanic kids with the disease. The gap in lung function persisted as the children aged, although it did not widen. And although the same proportion of patients in both groups eventually developed CF complications, the complications struck Hispanic patients earlier in life. Hispanic patients lived in poorer neighborhoods and were more likely to be covered by public health insurance than their non-Hispanic counterparts.

The research also showed that, between the two groups, different mutations prevailed in the disease-causing gene, which is called the CF transmembrane conductance regulator gene. Hispanic patients tended to have rare and poorly characterized mutations in their CFTR gene, whereas non-Hispanic patients had more common mutations that have been more extensively researched.

The next steps, Buu said, are to make others aware of the increased risk for Hispanic CF patients and to figure out how the risk can be reduced.

Previously: Cystic fibrosis patient on her 20+ years of care, New Stanford-developed sweat test may aid in development of cystic fibrosis treatments and Film about twin sisters’ double lung transplants and battle against cystic fibrosis available online
Image by Hey Paul Studios

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