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Cancer, Clinical Trials, Dermatology, Genetics, Pain, Pediatrics, Research, Stanford News

The worst disease you’ve never heard of: Stanford researchers and patients battle EB

The worst disease you've never heard of: Stanford researchers and patients battle EB

EB patient and docsI’m often humbled by my job. Well, not the job, exactly, but the physicians, researchers, and especially patients who take the time to speak with me about their goals and passions, their triumphs and fears. Their insight helps me as I struggle to interpret what goes on here at the Stanford University School of Medicine for others across the university and even around the world.

But every once in a while, an article comes along that brings me to my (emotional) knees. My article “The Butterfly Effect” in the latest issue of Stanford Medicine magazine describes the toll of a devastating skin disease called epidermoloysis bullosa on two young men and their families, as well as the determined efforts of a dedicated team of doctors and scientists to find a treatment. As a result, Stanford recently launched the world’s first stem-cell based trial aimed at correcting the faulty gene in the skin cells of patients with a severe form of the condition, which is often called EB.

I trace the path of one family as they learn, mere hours after his birth, that their son, Garrett Spaulding, has EB, which compromises the ability of the outer layers of the to stick together during friction or pressure. Patients develop large blisters and open wounds over much of their bodies. It’s incurable, fatal, and nearly indescribably painful. Paul Khavari, MD, PhD, now the chair of Stanford’s Department of Dermatology, was a young doctor at the time newborn Garrett was admitted to Lucile Packard Children’s Hospital Stanford in 1997.

“His whole body, his skin was blistered and falling off everywhere someone had touched him,” Khavari recalls in the article. “His parents were devastated, of course, at a time that was supposed to be one of the most joyful of their lives.”

Garrett’s now 18 years old, but the disease is taking its toll.

You’ll also meet Paul Martinez, one of the first participants in Stanford’s new clinical trial. He’s 32, which makes him an old man in the EB community. Unlike many EB patients, he has finished high school and completed a college degree in business marketing with a dogged determination that makes me ashamed of my petty complaints about my minor life trials. And he’s done it without relying on the pain medications essential for most EB patients. As he explains in the article:

We don’t know what it is like to not be in pain. It’s just normal for us. […] I have a very high tolerance, and don’t take any pain medication. I cherish my mind a lot. Rather than feel like a zombie, I prefer to feel the pain and feel alive.

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Health and Fitness, Pediatrics, Research, Sports

Female high-school athletes suffer more overuse injuries than their male counterparts

Female high-school athletes suffer more overuse injuries than their male counterparts

When I was younger, the prevailing parenting advice regarding athletics and children was to identify a sport your child would enjoy early on and have them focus on it throughout adolescent so she would have a competitive edge. Which is how I ended up playing on a boys soccer team at the age of five — there were no all-girls soccer teams in Austin, Texas in 1983. Soccer continued to be my sole sport throughout high school and college. Eventually, I had to give it up because the constant ankle injuries I endured meant I spent more time in rehab mode than training mode.

Never once did a physician or a trainer suspect that the injuries were related to overuse, despite the long hours I logged on running paths, in the weight room and on the field. So I was interested to read about recent research showing that girls are at a much higher risk than boys when it comes to overuse injuries in high-school sports.

In the study, researchers at the Ohio State University Wexner Medical Center reviewed 3,000 male and female injury cases over a seven year period across 20 high-school sports including soccer, volleyball, gymnastics and lacrosse. According to a release:

[Researchers] found the highest rate of overuse injuries occurred in girls track (3.82), followed by girls field hockey (2.93) and girls lacrosse (2.73). Overuse injuries in boys were most found in swimming and diving (1.3).

“These young people spend more time playing sports both in competition and in practice. So, there’s a correlation there between the amount of time that they’re playing and the increased incidence of injuries,” said [Thomas Best, MD, PhD,] who is also a professor and Pomerene chair in Ohio State’s department of family medicine.

The participation and intensity of high school athletics has increased over the past decade. According to Best, some high school athletes spend more than 18 hours a week participating in athletics and many participate in multiple sports concurrently.

Watch the clip above to learn more about researchers’ findings and recommendations.

Previously: Researchers call for improvements to health screenings for female college athletes and Stanford physician discusses prevalence of overuse injuries among college athletes

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

Addiction, Parenting, Pediatrics, Public Health, Research, Stanford News

Teens confused about harms of marijuana and e-cigarettes, Stanford study finds

Teens confused about harms of marijuana and e-cigarettes, Stanford study finds

smoking-skaterToday’s teenagers are familiar with the dangers of smoking conventional cigarettes, but they’re much less sure of the risks posed by marijuana and e-cigarettes, according to a Stanford study published today in the Journal of Adolescent Health.

The researchers asked 24 high-school students in one Northern California school district about the benefits and risks they perceived from cigarettes, e-cigarettes and marijuana, and where they were getting information about each. The good news is that teens have clearly absorbed the message – from parents, teachers and public health campaigns – that cigarettes are bad for their health. And the kids surveyed saw no benefit to smoking cigarettes, suggesting that conventional cigarettes have lost the “cool” factor they once had among the young.

But there was a big gap in teens’ understanding of e-cigarettes and marijuana, as our press release about the research explains:

“Kids were really good at describing the harmful things that happen with cigarette smoking, but when we asked about other products, there was a lot of confusion,” said the study’s lead author, Maria Roditis, PhD, a postdoctoral scholar in adolescent medicine.

“We’re good at delivering messaging that cigarettes are harmful, but we need to do a better job with other products that teens may smoke,” added Bonnie Halpern-Felsher, PhD, professor of pediatrics in adolescent medicine and the study’s senior author. “We don’t want the message kids get to be ‘cigarettes are bad, so everything else might be OK.’”

Teens need to hear about the risks of marijuana, including its damaging effects on the adolescent brain; its addictive potential; and its ability to damage the lungs, which is similar to that from inhaling smoke from any form of plant matter, Halpern-Felsher said. They also need to hear about the risks of e-cigarettes, which include the addictive properties of nicotine and the fact that flavor compounds in e-cigarettes can cause obstructive lung disease.

In a story about the research on LiveScience.com, Halpern-Felsher speculated on some of the factors that may be affecting teens’ views of marijuana and e-cigarettes:

There are several possible reasons why teens may view the risks of smoking cigarettes differently than using marijuana or e-cigarettes. One reason involves advertising — although the tobacco industry can’t advertise on TV, in some print media or in any youth venue, similar restrictions don’t apply to e-cigarettes, Halpern-Felsher told Live Science.

Young people are seeing e-cigarettes in cool colors and cool flavors. They are also seeing celebrities use them, and that gives these products more exposure and makes them appealing, she said.

Previously: With e-cigarettes, tobacco isn’t the only danger, How e-cigarettes are sparking a new wave of tobacco marketing and To protect teens’ health, marijuana should not be legalized, says American Academy of Pediatrics
Photo by James Alby

Chronic Disease, Pediatrics, Research

Earlier puberty linked with wide range of health conditions in study

Earlier puberty linked with wide range of health conditions in study

children-516340_1280Given that I have an eight-and-a-half-year-old who looks and often acts much older than her age, puberty has been on my mind a lot lately. (So much so, in fact, that I just got the highly regarded book The New Puberty: How to navigate early development in today’s girls – y’know, just in case). I was interested, then, to come across results of a recent U.K. study that examined the effect of the timing of puberty onset on later physical health.

A Medical Research Council press release nicely summarizes the work, which is the largest of its kind to date:

The study, published in Scientific Reports, confirms previous findings that early puberty in women is a risk factor for heart disease and type 2 diabetes, and showed, for the first time, that early puberty in men also influences these same conditions.

In addition, new links were found between the timing of puberty and a wider range of health conditions, including irritable bowel syndrome, arthritis, glaucoma, psoriasis and depression in men and women, and also early menopause in women.

Researchers tested data from nearly half a million people in UK Biobank, a national study for health research funded primarily by the [Medical Research Council Epidemiology Unit at the University of Cambridge] and the Wellcome Trust. Participants were asked to recall puberty-timing by remembering the age of their first monthly period for women and age at voice-breaking for men.

Those in the earliest or latest 20 percent to go through puberty had higher risks for late-life disease when compared to those in the middle 20 percent, including around 50 percent higher relative risks for type 2 diabetes, heart disease and poor overall health. Furthermore, these disease links were not simply explained by nutritional status or obesity.

It’s important to note that the study relied on self reports versus medical records on puberty timing – which the authors call the main limitation of their work. In addition, as is emphasized in the release, the findings don’t show cause and effect but instead demonstrate “a causal link between puberty and certain diseases.” Still, the results are interesting and appear important enough for more scientific digging; as the authors conclude in the paper, “further work is needed to understand the possible… mechanisms that link puberty timing to later life health outcomes.”

Previously: Study shows former foster kids face higher risk of future health problems“The child is father of the man”: Exploring developmental origins of health and disease and Research shows kids’ health good predictor of parents’ future health
Photo by EME

Global Health, Nutrition, Pediatrics, Stanford News, Technology, Women's Health

Stanford initiative aims to simultaneously improve education and maternal-child health in South Africa

Stanford initiative aims to simultaneously improve education and maternal-child health in South Africa

Nomfusi_counselingWhat if we could “leapfrog” over the education and technology gap in low-resource countries, while at the same time improving maternal and early childhood health in those areas? That is precisely the promise of a new Stanford-sponsored initiative spearheaded by Maya Adam, MD, a lecturer in the human biology program here.

I recently had the chance to speak on the phone with Adam and hear more about this project, which consists of designing picture-based educational videos that are loaded on tablets and distributed among community-health workers. At present, the video on child nutrition is being used as a pilot in South Africa through the organization Philani, where twelve “mentor mothers” have been using the tablets since March. As you’ll read below, there is immense potential for the project to scale up in the near future.

What have the results of this initiative been so far?

The feedback that we’ve gotten was that a lot of the mothers being counseled said, “You know, you’ve been using phrases like ‘balanced diet’ for many years, and I didn’t quite know what that meant until I saw the plate with the green vegetables and the little bit of protein and the little bit of grains.” Certain phrases became clearer when they were drawn in pictures. Also, we found a lot of the children wanted to come watch because it was a screen-based activity.

The workers themselves found it useful to convince their patients, for example, of the importance of prenatal care, because when the patients heard it both from the video and from them, it was almost as if the video was validating their messaging. So they’re very eager to have the project continue. They have a whole list of other videos they want us to make, from breastfeeding to HIV/AIDS prevention… It’s really been a powerful way both to teach and give these highly intelligent women access to technology that could enhance their education and help them overcome the barriers in their lives.

How easy would it be to use these videos in different regions of the world? 

slider-9_compressedWe have videos translated into English, Xhosa, and now Spanish, because they’ll be used next in Guatemala… We can use English in the U.S. in under-resourced locations. These are all very universal messages, and that’s why it’s so exciting: For a relatively small amount of effort, we can make videos that can be both translated into many other languages, and subtly altered visually so they resemble women and children in each different part of the world. For example, while we were creating the video, we put the braids that African women traditionally wear in their hair on a different layer of the Photoshop, so that layer can be removed and the resulting woman will have straight dark hair that would be more appropriate for use, say, in Guatemala.

We thought a lot about how to represent food. A real plate of food from South Africa would be culturally inappropriate in Guatemala, but by using cartoon images of fruits and vegetables, it becomes much more universal… We tried to show a variety of different fruits and vegetables without specifically showing that “this is a guava,” because a guava might not grow in other parts of the world.

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Global Health, Pediatrics, Public Health, Research, Sexual Health, Stanford News

Male attitudes about sexual violence challenged by educational program in Kenya

Male attitudes about sexual violence challenged by educational program in Kenya

Your-MomentIn the slums of Nairobi, Kenya, where sexual assault is rampant, an NGO called No Means No Worldwide has made important inroads in reducing rape of girls and women. As I’ve reported previously, their empowerment program for high-school girls teaches young women that they are entitled to stop unwanted sexual advances and gives them skills to do so.

But, in a culture with persistent denigration of women, girls’ lack of empowerment is only part of the problem. Fortunately, the people at No Means No Worldwide have also been asking how to improve male attitudes and behaviors toward women.

The curriculum for these young men is centered on getting them to think about what kind of people they want to be

Today, they’re reporting success in the first study of their curriculum for adolescent boys. The set of six two-hour classes for young men in impoverished Nairobi high schools focused on getting participants to challenge prevailing ideas about of women, as a Stanford expert who worked on the study explains in our press release:

“The curriculum for these young men is centered on getting them to think about what kind of people they want to be,” said lead author Jennifer Keller, PhD, clinical associate professor of psychiatry and behavioral sciences. “It’s about really getting them invested in why they need to step up and care about violence toward women: It affects their mothers, sisters and girlfriends.”

The classes helped boys recognize the cultural normalization of violence against women, and gain skills and courage to stop it. Topics of discussion included myths about women, negative gender stereotypes, when and how to safely intervene if you see someone else acting violently toward a woman, and what constitutes consent to sexual activity:

“If you think that when you take a woman out to dinner, she owes you something, you may believe that consent is different than it actually is,” Keller said. “The instructors and young men talked about understanding what true consent is and how to get that consent.”

At the end of the classes and at follow-up nine months later, the boys and young men who participated had significantly better attitudes and beliefs about women than a control group who participated in a life-skills class. Members of the intervention group also were more likely to step in to try to stop violent behavior they saw toward women. In the future, the research team plans to test whether the program also improves young men’s behavior in their own relationships with girlfriends.

Previously: Rape prevention program in Kenya attracting media attention, funding, Working to prevent sexual assaults in Kenya and Empowerment training prevents rape of Kenyan girls
Photo of participants in the “Your Moment of Truth” program by Duthie Photography, courtesy of No Means No Worldwide

Chronic Disease, In the News, Pediatrics, Research

A picture is worth a thousand words: Researchers use photos to see how Type 1 diabetes affects kids

A picture is worth a thousand words: Researchers use photos to see how Type 1 diabetes affects kids

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The impact of Type 1 diabetes can be a trying and forceful one, especially for children. To better understand the disease’s role in young patients’ lives, Ashby Walker, PhD, and colleagues at University of Florida conducted a study in which they gave 40 kids cameras and asked them to take photos representing what life with diabetes meant for them.

university press release discussed what the researchers found:

The most common pictures were of diabetes supplies, with 88 percent of youth taking at least one picture of needles, syringes, meters, pumps, insulin, ketone strips, test kits, and other materials for managing diabetes.

The accompanying captions focused mainly on the unavoidable presence of these supplies in the youths’ lives and the annoyance surrounding that fact. For instance, one white male participant wrote: “Diabetes means the burden of supplies,” and another wrote, “Because this is my life now. Needles and medicine, needles and medicine.”

Approximately half the adolescents also took pictures of their bodies with bruises, calluses, and pricked fingertips to display the physical pain and bodily evidence of diabetes and wrote captions that illustrate the pain and burden of the disease. For instance, one white female participant wrote: “This is a scar. Diabetes is about learning to get used to what hurts.”

The researchers also saw key differences in the types of photos taken by children in different socioeconomic situations:

…[Y]outh from more affluent households were more likely to take photos with symbols of resistance. The resistance photos and captions showed how the adolescents overcome the hardships associated with diabetes and sought to show how they would not be defined or limited by their diagnosis. More than half the adolescents took at least one resilience photo, but affluent youth were more likely to take these pictures than those from lower socioeconomic levels.

For instance, one white male wrote: “This shows that diabetes does not limit what you can do in your life,” describing a photo of a map with red dots on places he had traveled during the summer months.

“These photos demonstrate the importance of assisting low-income youth by providing them with resources and perspectives that encourage them to not be defined by their diagnosis,” Walker concludes. Her work appears in the journal Diabetes Spectrum.

Alex Giacomini is an English literature major at UC Berkeley and a writing and social media intern in the medical school’s Office of Communication and Public Affairs.  

Previously: High blood sugar linked to reduced brain growth in children with Type 1 diabetesTips for parents on recognizing and responding to type 1 diabetes and Researchers struggle to explain rise of Type 1 diabetes
Photo by Jill Brown

Emergency Medicine, Nutrition, Pediatrics, Rural Health

Study finds arm circumference is accurate measure of malnutrition in children with diarrheal illnesses

Study finds arm circumference is accurate measure of malnutrition in children with diarrheal illnesses

Malnutrition is a leading cause of mortality in children under the age of five, contributing to approximately 3.5 million child deaths worldwide each year. Currently, the World Health Organization and Doctors Without Borders recommend using calculations based on the patient’s body weight or arm circumference to assess their nutritional status. But, it’s not known if they are reliable measures of malnutrition in children that suffer from diarrhea and dehydration — two symptoms that can affect body weight and are common in undernourished kids.

Now, a study (subscription required) published this month in the Journal of Nutrition shows that mid-upper arm circumference can accurately assess malnutrition in children with diarrhea and dehydration and it’s better at assessing malnutrition than weight-based measures.

In the study, Rhode Island Hospital emergency medicine physician Adam Levine, MD, and his team analyzed 721 records of children (under the age of five) who were examined at an urban hospital in Dhaka, Bangladesh for acute diarrhea. They found that measurements based on a child’s mid-upper arm circumference accurately diagnosed malnutrition, but measurements based on weight were unreliable and misdiagnosed about 12-14 percent of the cases when the patient had diarrhea and dehydration.

“Because dehydration lowers a child’s weight, using weight-based assessments in children presenting with diarrhea may be misleading,” Levine said in a press release. “When children are rehydrated and returned to a stable, pre-illness weight, they may still suffer from severe acute malnutrition.”

Since poor nutrition is a common problem in areas where medical resources are limited, the best tools to diagnose malnutrition are effective and inexpensive. Tape measures are cheaper and are often easier to come by than scales, so the results of this study are especially encouraging for people who want the best and most affordable way to measure malnutrition in children. “Based on our results, clinicians and community health workers can confidently use the mid-upper arm measurement to guide nutritional supplementation for children with diarrhea,” said Levine.

Previously: Stanford physician Sanjay Basu on using data to prevent chronic disease in the developing worldMalnourished children have young guts and Seeking solutions to childhood anemia in China
Photo by European Commission DG ECHO

Medical Education, Medicine and Literature, Patient Care, Pediatrics

Stanford Storytellers: Medical students write a children’s book to comfort and educate

Stanford Storytellers: Medical students write a children's book to comfort and educate

hospitalcolorThis spring, four Stanford medical students wrote a children’s book, Stanford Storytellers, which uses imagination to help children understand and feel comfortable in the hospital.

Authors Afaaf ShakirMichael Nedelman, Karen Hong, and Zahra Sayyid, along with illustrator Emma Steinkellner, a Stanford undergraduate, came together through a call for interested Stanford Medicine students to collaborate on a children’s book in honor of this year’s Medicine and the Muse symposium’s keynote speaker, Perri Klass, MD. Klass is a professor of journalism and pediatrics at New York University and a children’s author who is involved with Reach Out and Read, a non-profit encouraging early childhood literacy in pediatric clinics.

“Funny enough,” Nedelman told me, “all the med students who showed up to the [book] meeting were my classmates – third-years who should’ve probably been falling asleep on a couch somewhere. Things really clicked when we found Emma, whose visual style was perfect for the project.” I recently spoke with Nedelman and the other group members over email, as coordinating their busy schedules was like herding cats!

Where does your perspective on a hospitalized child’s experience come from? 

Hong: I’m currently on my pediatrics rotation and I see a lot of children who would get some reassurance from a book like ours. Just today, I was talking to a little boy who really wanted to take his IV out. You have to keep your arm straight for days on end and deal with the uncomfortable feeling of having a needle in your arm – who would want that if they didn’t understand why it’s there? We talked about how the clear plastic tube delivers a magic “potion” into his system to fight off his infection and it was amazing how fast his attitude changed. This isn’t always the case with every patient but it’s nice to see the power of imagination at work.

Sayyid: I remember distinctly the first book series that I couldn’t put down: Lurlene McDaniel’s young adult books, which focused mainly on girls who were struggling with chronic illnesses and death. Each of her stories focused on a different girl with a different disease, almost all of which were fatal. Although I luckily did not experience much time in the hospital as a child, I remember reading those stories and thinking, “Wow, this could have been me.”

Shakir: I grew up in a house with two pediatrician parents, which meant I never went to a doctor’s office, let alone a hospital. It wasn’t until I came to medical school that I realized that kids without physician parents have a totally different take on medicine than I did. It’s completely unfamiliar to them, and things aren’t often explained in a way that a kid can understand. That perspective has fueled me to empower patients (both adults and kids) with knowledge about their care and their bodies. In addition, being in medical school gives us the unique perspective of being young in our training (the ‘kids’ of medicine) where things are still new and strange, but also being medical ambassadors for our patients. We have enough knowledge to explain concepts without forgetting what it was like to not understand them. Writing this book has been a great reminder of the importance of that communication.

hallwayWho do you hope will read the book? How do you hope it will be distributed?

Nedelman: There are lots of people I’d love to see connect with the book: The 5-year-old chemo patient, seeing the hospital through a new lens. Or his classmates, who may not understand why he always seems to be missing class. Or the attending physician, perhaps with young kids, who understands that a little bit of imagination can really help reframe an unfamiliar and at times uncomfortable experience.

Shakir: Our ultimate hope is that our book reaches the children we are writing it for. We intentionally made our protagonist a character who was easily accessible to as many kids as possible.

Nedelman: We don’t know what condition this character has; it’s all in first-person so even the child’s gender is interpretable by the reader. And even though our protagonist is seen flying, floating in space, and rolling in a wheelchair, we actually never see this character walking around.

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