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Big data, Events, Genetics, Stanford News, Videos

Using genetics to answer fundamental questions in biology, medicine and anthropology

Using genetics to answer fundamental questions in biology, medicine and anthropology

At last year’s Big Data in Biomedicine conference, Stanford geneticist Carlos Bustamante, PhD, spoke about the potential of using genetic information to answer fundamental questions in biology, medicine and anthropology. In this video from the 2014 event, Bustamante explains his lab’s efforts to better understand the structure of human genome, how genetic variations are portioned among different human populations and the significance of this information for designing medical genetic studies.

Bustamante will return to the Big Data in Biomedicine conference in May to moderate the genomics session. Speakers for the session are Christina Curtis, PhD, assistant professor of medicine and genetics at Stanford; Yaniv Erlich, PhD, assistant professor of computer science at Columbia University and a core member at the New York Genome Center; David Glazer, director of Engineering at Google and founder of the Google Genomics team; and Heidi Rehm, PhD, director of the Partners Laboratory for Molecular Medicine and associate professor of pathology at Harvard Medical School.

The conference will be held May 20-22 at the Li Ka Shing Center for Learning and Knowledge at Stanford; registration details can be found on the event website.

Previously: Big data used to help identify patients at risk of deadly high-cholesterol disorder, Examining the potential of big data to transform health care and Registration for Big Data in Biomedicine conference now open

Medical Education, Patient Care, SMS Unplugged

The first time I cried in a patient’s room

The first time I cried in a patient’s room

SMS (“Stanford Medical School”) Unplugged was recently launched as a forum for students to chronicle their experiences in medical school. The student-penned entries appear on Scope once a week; the entire blog series can be found in the SMS Unplugged category.

Moises bedside sketchThis blog entry marks my last contribution to SMS Unplugged. I am two months from graduating from Stanford Medical School and starting my adventures as an intern. My fiancé and I happily matched at Baylor for our residencies and look forward to contributing to patient care in Houston. Having finished my clinical duties and finding myself spending less time in the hospital, I didn’t anticipate the powerful experience I would have at a patient’s bedside this past week.

In my clerkships I have encountered various situations in patient care that are difficult to deal with: the weight of sharing a negative prognosis, the death of a patient, disappointments in personal performance. Through these encounters I took pride in remaining professional and controlling my emotions, finding a balance between showing empathy and connecting with my patients but not allowing my personal feelings to take over. More specifically, I have never cried in front of a patient. This changed last week, and it happened in the most unexpected of moments.

As a teaching assistant for the second-year class my responsibilities include recruiting patients for students to interview and examine. For the most part, it’s a tedious thing to do and can be a task to dread. But every now and then I meet a patient that reminds me how amazing patient – and human – contact can be. During my last recruitment session, I met a patient that made me cry. I cried not for her, but because she cried for me.

In the process of introducing myself I could tell that she was a warm and caring person. This made it easier to open up to her when she asked about me, where I was heading next, and what life plans my fiancé and I have. It’s not usually a conversation I would have with a patient that I’ve only known for two minutes, but something about her genuine interest was welcoming. Wrapping up our conversation, I began to thank her and make my exit when she reached for my hand and asked if I could give her just two more minutes. Instead of continuing with generic conversation, she closed her eyes and began to pray while holding my hand tight.

Praying with a patient wasn’t new; several patients in the past have asked for me to share moments of prayer with them, and they were beautiful moments. But this time it was about me. She prayed that I have a good residency experience and that I emerge from my training well prepared. Then she opened her eyes and revealed the tears that she would bless me with. She asked that I never forget the dynamic that I will share with my patients. She asked that I always remember to look my patients in the eye, check my position of power and recognize the intelligence of my patients, and more than anything “kick the heck out of life.”

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In the News, Neuroscience, Research, Sleep, Stanford News

Stanford researcher’s work, which clarifies role of brain activity during sleep, featured on NPR

Stanford researcher's work, which clarifies role of brain activity during sleep, featured on NPR

ParviziMuch to my delight, I heard the voice of Josef Parvizi, MD, PhD, on NPR yesterday afternoon. He was discussing the results of his latest study, which showed that the brain’s activity during sleep is far from random.

“There is something that’s going on in a very structured manner during rest and during sleep,” Parvizi told NPR. “And that will, of course, require energy consumption.”

A Shots blog entry accompanying the segment describes the findings:

The team saw activity in two widely separated brain areas known to be involved in episodic memories. And the activity was highly coordinated — suggesting the different brain regions were working together to answer the questions…

“What we found,” he says, “was that the same nerve cells that were activated to retrieve memories… have a very coordinated pattern of noise.”

This explains, in part, why the brain consumes 20 percent of the body’s energy, although it constitutes only 2 percent of its weight. There are more details on the study in our press release.

Previously: New findings on exactly why our “idle” brains burn so much fuel, The brain whisperer: Stanford neurologist talks about his work, shares tips with aspiring doctors and How epilepsy patients are teaching Stanford scientists more about the brain

Evolution, In the News, Research, Science

Chins make us human; new study examines why

Chins make us human; new study examines why

il-150226-ts-08When we think of what makes us human, it’s common to think of something like language or tool-making. Something that likely doesn’t pop into mind is the chin – but humans are the only species to have one! The bony prominence is missing from the skulls of Neanderthals, archaic humans, primates, and indeed all other animals. (In the photo, the skull on the left is human, and the one on the right is Neanderthal).

Scientists have puzzled for more than a century over why chins developed, and the dominant theory has been that they resulted from mechanical forces like chewing. Bones under pressure sustain tiny tears that then enable new bone to grow, much like weight lifting does to muscles. But a new study conducted by University of Iowa researchers suggests that mechanical forces have nothing to do with it: It’s more likely that chins resulted from shifting social dynamics.

The study, published in the Journal of Anatomy, capitalized on the fact that children don’t have chins either – the bone underneath their lower lip is smooth, and the prominence develops with age. The study examined nearly 40 people ranging from 3-20 years old, correlating their chin development with various forces exerted by their cranio-facial anatomy (during chewing, for example), and concluded that mechanical forces don’t play a role in chin development. In fact, those with the most mechanical force had the smallest chins.

Nathan Colton, PhD, professor of orthodontics at the UI College of Dentistry and lead author of the study, is quoted in a UI press release:

In short, we do not find any evidence that chins are tied to mechanical function and in some cases we find that chins are worse at resisting mechanical forces as we grow. Overall, this suggests that chins are unlikely related to the need to dissipate stresses and strains and that other explanations are more likely to be correct.

Instead, the researchers think that the chin results from the facial structure being rearranged as faces got smaller – human faces are 15 percent smaller than those of Neanderthals. This reduction resulted from a decrease in testosterone levels, which happened as males of the species benefitted more from interacting socially with other groups rather than fighting other males.

Robert Franciscus, PhD, professor of anthropology at UI and a contributing author on the study, also comments:

What we’re arguing is that modern humans had an advantage at some point to have a well-connected social network, they can exchange information, and mates, more readily, there’s innovation. And for that to happen, males have to tolerate each other. There had to be more curiosity and inquisitiveness than aggression, and the evidence of that lies in facial architecture.

Previously: Humans share history – and a fair amount of genetic material – with Neanderthals
Photo by Tim Schoon, University of Iowa

Events, Obesity, Pediatrics, Stanford News, Videos

Childx speaker Matthew Gillman discusses obesity prevention

Childx speaker Matthew Gillman discusses obesity prevention

The inaugural Childx conference was held here last month, and video interviews featuring keynote speakers, panelists and moderators are now on the Stanford YouTube channel. To continue the discussion of driving innovation in maternal and child health, we’ll be featuring a selection of the videos this month on Scope.

The prevalence of childhood obesity in the United States has not changed significantly since 2004 and remains at about 17 percent. However, the rate of obesity among preschool children, ages 2 to 5, has dropped from nearly 14 percent to 8.4 percent, according to data from the Centers for Disease Control and Prevention. Matthew Gillman, MD, a professor in the Department of Nutrition at Harvard Medical School, is among the group of researchers working to understand why rates of obesity among younger children have decreased.

In the above video interview from the Childx conference, Gillman discusses two possible reasons why fewer children under the age of five are obese and how this statistic points to potential prenatal underpinnings that influence a child’s risk of obesity. He goes on to explain how researchers previously believed that our health habits in adulthood gave rise to chronic disease, but that studies have shown the risk for these conditions may be determined early in life, even before birth. Watch his full interview to learn more about how fetal development influences our overall health.

Previously: “It’s not just science fiction anymore”: Childx speakers talk stem cell and gene therapy, Global health and precision medicine: Highlights from day two of Stanford’s Childx conference, Innovating for kids’ health: More from first day of Stanford’s Childx and “What we’re really talking about is changing the arc of children’s lives:” Stanford’s Childx kicks off

Behavioral Science, Cardiovascular Medicine, Patient Care, Research, Stanford News

A little help from pharmacists helps a-fib patients adhere to prescriptions

A little help from pharmacists helps a-fib patients adhere to prescriptions

TurakhiaIt’s not always easy to take drugs as prescribed — life often gets in the way of taking a pill at the same time each day. And it’s relatively easy to ignore the tiny printing on a medication container, to rationalize why that doesn’t apply to you, or how a few exceptions certainly wouldn’t hurt.

Except sometimes precise prescription adherence is important. And that’s the case for a new class of blood thinners such as dabigatran that are used to treat atrial fibrillation.

With these twice-daily oral drugs, “even missing a few doses can lead to acute events such as stroke,” said Mintu Turakhia, MD. Along with other researchers, Turakhia was puzzled when he learned that patients weren’t adhering very well to these drugs. It seemed surprising because the drugs didn’t require frequent blood tests like warfarin, the traditional blood thinner used to treat atrial fibrillation.

Digging into the data, Turakhia and his team found that adherence varied by treatment site, not by individual patient. How odd, they thought. To figure out what was going on, “we rolled up our sleeves and looked at what each site was doing,” Turakhia said.

My colleague explained the result of the researchers’ work, which appears today in the Journal of the American Medical Association, in a release:

At the sites with the highest patient adherence, there was usually a pharmacist actively educating patients on medication adherence, reviewing any possible drug interactions, and following up to make sure patients were taking the medication when they were supposed to and that prescriptions were being refilled on time…

“We’re suggesting that greater structured management of these patients, beyond the doctor just prescribing medications for them, is a good idea,” Turakhia said. “Extra support, like that provided in the VA anticoagulation clinics with supportive pharmacist care, greatly improves medication adherence.”

Previously: One label fits all? A universal schedule for prescription drugs, Raising awareness about the importance of taking medications properly and Study highlights increased risk of death among patients with atrial fibrillation who take digoxin
Photo of Turakhia by Norbert von der Groeben

Cardiovascular Medicine, Chronic Disease, Patient Care, Women's Health

Welcome to your new country: A heart patient on her “travels” with heart disease

Welcome to your new country: A heart patient on her "travels" with heart disease

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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 heart patient Carolyn Thomas

My doctor once compared my uneasy adjustment to life as a heart patient with being like a stressful move to a foreign country.

I used to be pretty comfortable living in my old country, pre-heart attack. I had a wonderful family and close friends, a public relations career I loved, a nice home – and a busy, happy, healthy, regular life.

Then on May 6, 2008, I was hospitalized with what doctors call a “widowmaker” heart attack.

And that was the day I moved far, far away to a different country.

Many who are freshly diagnosed with a chronic and progressive illness feel like this. The late Jessie Gruman, PhD, who spent decades as a patient, described in a Be a Prepared Patient Forum column that sense of being drop-kicked into a foreign country: “I don’t know the language, the culture is unfamiliar, I have no idea what is expected of me, I have no map, and I desperately want to find my way home.”

Deported to the foreign country called Heart Disease, I too found that nothing around me felt familiar or normal anymore once I was home from hospital.

I felt exhausted and anxious at the same time, convinced by ongoing chest pain, shortness of breath and crushing fatigue that a second heart attack was imminent. I felt a cold, low-grade terror on a daily basis.

Instead of feeling happy and grateful because I had survived what many do not, I frightened myself by weeping openly over nothing in particular. I slept in my clothes. I didn’t care how I looked or how I smelled. I had no interest in reading, walking, talking, showering or even getting out of bed. Everything seemed like just way too much trouble.

Where once I had been competent, I now felt unsure.

Where once I had made decisions with sure-footed speed, I now seemed incapable of deciding anything.

And my worried family and friends couldn’t even begin to comprehend what was going on for me – because I could scarcely understand it myself. Sensing their distress, I tried to paste on my bravest smiley face around them so we could all pretend that everything was normal again. But making even minimal conversation felt so exhausting that it eventually seemed so much easier to just avoid others entirely.

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Big data, Clinical Trials, Ethics, Public Health, Research, Stanford News

The public wants easier ways to participate in medical research, study shows

The public wants easier ways to participate in medical research, study shows

Informed consent, the time-consuming process for obtaining permission to conduct health-care research on a person, was developed long before computers, the Internet and smartphones. Last year, when government regulators proposed to add an even greater burden of paper, red tape and so-called patient protections to this process, a team of bioethicists cried foul. And they took the issue to the public via a cross-sectional survey study that was published today in the Annals of Internal Medicine.

What the survey respondents said surprised them: Keep the permissions simple, but always ask permission, even when the research only involves anonymized medical records.

“The good news was that most people said that they would accept simpler approaches to granting permission, even verbal permissions, if requiring written agreements would hinder this type of comparative-effectiveness research,” study author Mildred Cho, PhD, associate director of the Stanford Center for Biomedical Ethics, said in our press release.

Bioethicists from Stanford and the University of Washington are on the leading edge of addressing the ethical challenges of evolving research methods, where researchers will increasingly use data from wearable devices, electronic medical records, genomic databases and other sources to help improve our population’s health.

In an editorial accompanying Cho’s article, John Lantos, MD, from Children’s Mercy Hospitals and Clinics, summarized the importance of the study:

Cho and colleagues challenge us to think of a better way. Autonomy should mean participatory engagement. Respect for persons should mean empowering them to develop the rules. It is time to ask whether a system in which the fundamental principle is ‘respect for persons,’ can continue to ignore the preferences of many of the persons it claims to respect.

As a next step, the bioethicists will be developing media-rich tools to explain the risks and benefits of research that uses electronic medical records and stored biological samples. For example, the video above was developed to explain the concept of informed consent to survey respondents unfamiliar with research terminology.

Previously: Build it (an easy way to join research studies) and the volunteers will comeHarnessing mobile health technologies to transform human health and Video explains why doctors don’t always know best
Video by Booster Shot Media

In the News, Mental Health, Research, Sleep

The importance of screening soldiers for sleep problems to combat mental-health conditions

The importance of screening soldiers for sleep problems to combat mental-health conditions

Watching over

A new report from the RAND Corporation suggests that treating military members’ sleep disturbances early on may be an important step in preventing serious mental-health conditions, including post-traumatic stress disorder, depression, and traumatic brain injury.

The two-year multi-method study examined sleep-related policies and programs across the U.S. Department of Defense and surveyed almost 2,000 veterans from various branches of the military to evaluate their sleep habits. The findings emphasized the negative effects of poor sleep on soldiers’ mental health, daytime impairment and perceived operational readiness; and it outlined interventions for helping identify and prevent sleep problems for service members.

The Huffington Post reports:

The researchers recommended that the military improve screening for sleep disturbance, and develop guidelines for doctors on how to identify and treat sleep disorders in the military. Apps on mobile phones might be one new way to identify and monitor sleep problems so they do not become chronic and debilitating, the researchers said.

Although the new report focused on activity-duty troops, studies show that sleep problems are often missed in veterans as well, [Wendy Troxel, PhD, co-author of the report] said, so there is also a need to develop guidelines for treating this population. In a previous survey of 3,000 veterans, 74 percent had symptoms of insomnia, but only 28 percent had talked with their doctor about it, Troxel said.

The researchers also recommended improving policies and programs to educate military personnel about the importance of sleep, and provide guidance on how to help military members get better sleep.

Previously: Study shows benefits of breathing meditation among veterans with PTSD, The promise of yoga-based treatments to help veterans with PTSD and Using mindfulness therapies to treat veterans’ PTSD
Photo by DVIDSHUB

Addiction, Events, Pain, Patient Care, Public Health, Stanford News

The problem of prescription opioids: “An extraordinarily timely topic”

The problem of prescription opioids: "An extraordinarily timely topic"

photo (2) 2Suffer from pain? Or become an addict? Bemoan the epidemic of pain? Or decry the epidemic of opioid addiction?

At first glance, pain and addiction appear to conflict, to occupy distinct never-overlapping planes. But in reality, pain and addiction anchor two ends of a spectrum, with a lot of gray area in between, said Anna Lembke, MD, director of the Stanford Addiction Medicine Program.

Lembke and Sean Mackey, MD, PhD, chief of pain medicine, squared off in a good-natured debate of sorts moderated by chief communications officer Paul Costello last week at a Stanford Health Policy Forum on “The Problem of Prescription Opioids.”

“This is an extraordinarily timely topic,” Dean Lloyd Minor, MD, said in his introduction. “These issues really reflect a dilemma of wanting to bring the best compassionate care and science to our patients, yet also needing to respect the adverse effects that can occur.”

The statistics on both sides are sobering. The two experts told the audience that in the U.S., more than 16,000 people per year die of opioid overdose and 100 million people live in pain.

And both Lembke and Mackey shared harrowing tales of the suffering of their patients. Lembke once was called to consult on a women suffering from low back pain who had a opioid addiction identified by two previous psychiatrists. Yet in the exam room, the patient threatened to sue if she didn’t receive an opioid prescription, Lembke said. Cases like that prompted her to pen a provocative 2012 essay titled “Why doctors prescribe opioids to known opioid abusers.”

But Mackey treats patients who are suffering deeply, including a woman whose foot injury from a vehicle accident morphed into a pain syndrome affecting her upper extremities.

The current opioid addiction problem stems from a historical pattern of failing to treat pain, even in dying patients, Lembke said. Yet the pendulum swung too far and now doctors feel obligated to prescribe drugs such as opioids, she said.

At the Stanford Pain Management Center, teams of specialists work together to treat pain as a complex condition that affects many parts of the body and mind, Mackey said. Patients are treated with physical therapy, psychiatry and a variety of other specialties to try to allow them to participate in meaningful life activities, he said.

Although care at Stanford is top notch, it is an outlier and thousands of other patients are exposed to poor pain management practices. In addition, pain is now widely recognized as a disease, but addiction remains stigmatized, Lembke said.

When doctors recognize a opioid-seeking patient, they should treat the addiction, not boot the patient out of their practice.

Lembke and Mackey stressed that education about both pain and addiction ought to receive increased attention in medical schools. And patients need to take a role in treating both their own pain, and their addictions, they said. They do share common ground, Lembke said.

“All we think about every day is how we’re going to do it better,” Mackey said.

Previously: Assessing the opioid overdose epidemic, Stanford addiction expert: It’s often a “subtle journey” from prescription-drug use to abuse, Is a push to treat chronic pain pressuring doctors to prescribe opioids to addicts?, Why doctors prescribe opioids to patients they know are abusing them and Study shows prescribing higher doses of pain meds may increase risk of overdose
Photo by Becky Bach

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