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Chronic Disease, In the News, otolaryngology, Patient Care

A look at one woman’s long journey to diagnosis and treatment of rare disorder

VertigoThis week’s Medical Mysteries column in The Washington Post tells the story of a woman who lived with debilitating vertigo and odd tinnitus. Baltimore’s Rachel Miller lived with dizziness, the exaggerated sound of her heart and breathing and even anomalies with her vision for five years before she was diagnosed and treated. Many of the doctors she saw dismissed her symptoms as psychosomatic and Miller even went through a period when she stopped seeing doctors for her condition. Miller described her travails this way:

“I had started to feel like a person in one of those stories where someone has been committed to a mental hospital by mistake or malice and they desperately try to appear sane,” recalled Miller, now 53. She began to wonder if she really was crazy; numerous tests had ruled out a host of possible causes, including a brain tumor. Continuing to look for answers seemed futile, since all the doctors she had seen had failed to come up with anything conclusive.

But then she went to see David Zee, MD, who diagnosed her strange symptoms as a rare disorder called superior canal dehiscence syndrome (SCDS), when a small hole or a thin area of the temporal bone allows the fluid of the inner ear to touch the brain, transmitting sounds from the rest of the body, like our heartbeat or breathing, or even the movement of our eyeballs. John Carey, MD, operated on Miller, filling the small hole with bone and other tissue from the skull. As the piece notes, both Carey and Zee trained with Lloyd Minor, MD, now dean of the Stanford School of Medicine, when he was at Johns Hopkins University. Minor discovered SCDS in 1995 and developed the surgical treatment that Miller subsequently received in 2012.

Miller has recovered now, with only occasional problems when she gets a cold. But her story points out how difficult it can be to diagnose rare medical problems.

Previously: NIH network designed to diagnose, develop possible treatments for rare, unidentified diseases and Using crowdsourcing to diagnose medical mysteries
Photo by Mikael Tigerström

Imaging, In the News, Neuroscience, Research, Stanford News

Studies on ME/chronic fatigue syndrome continue to grab headlines, spur conversation

Studies on ME/chronic fatigue syndrome continue to grab headlines, spur conversation

neural-pathways-221719_640The proof’s in the pudding, the old saying — which seems slightly seasonal — goes. So when a Stanford team compared images of brains affected by chronic fatigue syndrome, with those healthy brains, they found noticeable differences, including misshaped white matter, the cells that coordinate communication between brain regions. The news garnered immediate attention and has now been featured in a New York Times  piece:

The relationship between the symptoms experienced by patients and the findings is unclear. The two parts of the brain connected by the abnormally shaped white matter are believed to be important for language use, said Michael Zeineh, MD, a radiologist at Stanford and the lead author…

“This opens the door to more detailed investigations because now we have targets for future research,” he said.

The Times also refers to another study, published in March, that found cerebral inflammation in patients who suffer from chronic fatigue syndrome, or, as it is also called, myalgic encephalomyelitis/ C.F.S. This is big news for a condition that’s often misdiagnosed — patients are sometimes forced to visit numerous doctors and battle insurance companies — all while fighting the debilitating symptoms — before securing a diagnosis.

The Times touches on the tricky politics of the disease as well:

Next month, a panel convened by the National Institutes of Health will hold a two-day workshop  charged with “advancing the research” on the illness of the disorder. The Institute of Medicine is conducting a separate, government-sponsored initiative to assess and evaluate the many sets of diagnostic criteria for M.E./C.F.S., with the results expected next year.

Advocacy groups have questioned the rationale for two separate efforts. They have also criticized the initiatives because in both cases many people with little or no expertise in M.E./C.F.S. will be voting on recommendations that could have a significant impact on the government’s future efforts.

Previously: Patients’ reaction to ME/CFS coverage in Stanford Medicine magazine, Some headway on chronic fatigue syndrome: Brain abnormalities pinpointed and Unbroken: A chronic fatigue syndrome patient’s long road to recovery
Image by geralt

Genetics, In the News, Medicine and Society, Research

James Watson to put Nobel medal on the auction block

James Watson to put Nobel medal on the auction block

DNA Template molecular modelLooking for the perfect holiday gift for the science geek in your life? Have an extra $3 million sitting around? If so, you can bid on James Watson’s Nobel Medal, which will be auctioned off by Christie’s on December 4 and is expected to fetch between $2.5 and $3.5 million. Watson, now 86, won the Nobel Prize in Physiology or Medicine in 1962 for deciphering the structure of DNA, along with Francis Crick and Maurice Wilkins. An article in Reuters noted the significance of the medal’s auction and the 1953 finding for which it was awarded:

“It is recognition of probably the most significant scientific breakthrough of the 20th century and the impact of it is only being played out now in the 21st century,” said Francis Wahlgren, international head of books and manuscripts at Christie’s. “Whole industries have developed around it.”

Countless subsequent scientific discoveries in the last half century have their foundation in Watson and Crick’s work. Last year, Francis Crick’s Nobel medal garnered $2.27 million. Watson’s handwritten notes for his acceptance speech will also be auctioned the same day. He plans to donate part of the proceeds from the sales to charities and to scientific research.

Previously: Coming soon: A genome test that costs less than a new pair of shoes, NPR explores the pros and cons of scientists sequencing their own genes, and Image of the Week: Watson and Crick
Photo of thymine template from Watson and Crick’s 1953 molecular model by Science Museum London

Global Health, In the News, Public Health, Research, Science Policy

Gates Foundation makes bold moves toward open access publication of grantee research

Gates Foundation makes bold moves toward open access publication of grantee research

Bill and Melinda GatesLast week, the Gates Foundation announced that it will now require all grantees to make the results of their research publicly accessible immediately. Researchers will only be able to publish their research in scientific journals that make the published papers accessible via open access – which rules out publishing in many prominent journals such as Science and Nature.

Inside Higher Education detailed the new policy:

The sweeping open access policy, which signals the foundation’s full-throated approval for the public availability of research, will go into effect Jan. 1, 2015, and cover all new projects made possible with funding from the foundation. The foundation will ease grant recipients into the policy, allowing them to embargo their work for 12 months, but come 2017, “All publications shall be available immediately upon their publication, without any embargo period.”

“We believe that our new open access policy is very much in alignment with the open access movement which has gained momentum in recent years, championed by the NIH, PLoS, Research Councils UK, Wellcome Trust, the U.S. government and most recently the WHO,” a spokeswoman for the foundation said in an email. “The publishing world is changing rapidly as well, with many prestigious peer-reviewed journals adopting services to support open access. We believe that now is the right time to join the leading funding institutions by requiring the open access publication of our funded research.”

But the Gates Foundation policy goes further than other funding instutions. Once the papers are available publicly, they must be licensed so that others can use that data freely, even for commercial purposes. A news article in Nature explains the change:

The Gates Foundation’s policy has a second, more onerous twist which appears to put it directly in conflict with many non-OA journals now, rather than in 2017. Once made open, papers must be published under a license that legally allows unrestricted re-use — including for commercial purposes. This might include ‘mining’ the text with computer software to draw conclusions and mix it with other work, distributing translations of the text, or selling republished versions.  In the parlance of Creative Commons, a non-profit organization based in Mountain View, California, this is the CC-BY licence (where BY indicates that credit must be given to the author of the original work).

This demand goes further than any other funding agency has dared. The UK’s Wellcome Trust, for example, demands a CC-BY license when it is paying for a paper’s publication — but does not require it for the archived version of a manuscript published in a paywalled journal. Indeed, many researchers actively dislike the thought of allowing such liberal re-use of their work, surveys have suggested. But Gates Foundation spokeswoman Amy Enright says that “author-archived articles (even those made available after a 12-month delay) will need to be available after the 12 month period on terms and conditions equivalent to those in a CC-BY license.”

The Gates Foundation has funded approximately $32 billion in research since its inception in 2000 and funds about $900 million in global health funds annually. That’s a smaller impact than, say the U.S. National Institutes of Health, which funds about $30 billion in health research. But it does represent nearly 3,000 papers published in 2012 and 2013. Only 30 percent of those were published in open access journals.

Previously: Teen cancer researcher Jack Andraka discusses open access in science, stagnation in medicineExploring the “dark side of open access”, White House to highlight Stanford professors as “Champions of Change”Stanford neurosurgeon launches new open-source medical journal built on a crowdsourcing modelDiscussing the benefits of open access in science and How open access publishing benefits patients
Photo of Bill and Melinda Gates by Kjetil Ree

In the News, Medicine and Society, Mental Health, Pediatrics

Advice and guidance on teen suicide

Advice and guidance on teen suicide

12389778613_ed6496a72f_zNot again, I thought as I read the opening line of a recent Palo Alto Weekly op-ed: “As a community we are grieving.” Reading further, my fears were confirmed: Now, additional teens have died by suicide in this California city.

A handful of years ago, I was a reporter for the Weekly. I was so grateful to cover city government, rather than schools — what a pressure cauldron, I thought at the time. As a teen, I too struggled with perfectionism, the drive to earn straight As and attend a top college, while excelling at extracurriculars. How awful to be surrounded by others like me, I thought.

Of course this is a one-dimensional glimpse at the problem. Suicides aren’t explained by perfectionism or academic stress and they certainly aren’t a Palo Alto-only problem. Shashank Joshi, MD, a child psychiatrist with Lucile Packard Children’s Hospital; Palo Alto Medical Foundation physician Meg Durbin, MD; and Sami Harley, a mental-health specialist, discuss this and other issues in a piece written to offer guidance to the saddened community. “Suicide does not have a single ’cause.’ Many factors and life circumstances must be taken into account,” they write.

They go on to clarify misperceptions about depression, an underlying condition that can make suicide or suicidal thoughts more likely:

Depression isn’t something you can or must just ‘deal’ with on your own… Though positive thinking can be an important part of having a healthy and resilient life, positive thinking by itself does not treat clinical depression. Talk therapy with antidepressant medications, if needed, are the only proven treatments for teen depression.

These local experts have held depression education and suicide-prevention training sessions with several thousand students at the two Palo Alto public high-schools since 2010. “Solutions must come from all those who interact with youth, including schools, parents and family, friends, medical and mental health providers, community and faith leaders and mentors,” they conclude.

Previously: “Every life is touched by suicide:” Stanford psychiatrist on the importance of prevention, Lucile Packard Children’s Hospital partners with high schools on student mental health programs  and Volunteers watch train crossings to prevent suicides
Photo by jimmy brown

Aging, Genetics, In the News, Research, Stanford News

“A lot more data” needed to determine what makes supercentenarians live so long

"A lot more data" needed to determine what makes supercentenarians live so long

Scientists from Stanford and elsewhere have been hunting for a genetic explanation for extreme longevity for the past four years and are realizing that it is a more difficult proposition than they initially hoped.

Their research compared the genomes of 17 “supercentenarians” – those who have lived 110 years and beyond – with those of 4,300 “regular” people recorded earlier in a National Institutes of Health study. The study was geared toward finding a single gene or group of genes responsible for a particular trait – in this case longevity – similar to genes which have been found to cause disease or confer immunity. But they have had no luck. Stuart Kim, PhD, a Stanford geneticist and molecular biologist and founder of the Kim Lab for the study of aging, commented in a San Francisco Chronicle piece:

We were looking for a really simple explanation in a single gene, and we know now that it’s a lot more complicated, and it will take a lot more experiments and a lot more data from the genes of more supercentenarians to find out just what might account for their ages.

However, data about the oldest people in the world still suggests that the reason they can live so long has to do with their genes, and not with lifestyle choices. The supercentenarians have average rates of cancer, heart disease, and stroke, although they have escaped many age-related diseases, and their smoking, alcohol, exercise and diet appear no different than among ordinary people. Furthermore, as noted in the article, the parents, siblings and children of the centenarians have also lived well beyond average.

Previously: Unlocking the secrets to human longevity and California’s oldest person helping geneticists uncover key to aging

In the News, Mental Health, Patient Care

Imagining voices: A new movement is using drug-free ways to treat auditory hallucinations

Imagining voices: A new movement is using drug-free ways to treat auditory hallucinations

Artistic_view_of_how_the_world_feels_like_with_schizophrenia_-_journal.pmed.0020146.g001The idea of hearing voices, or auditory hallucinations, is an experience that frightens many of us. It can be seen as a sign that you are no longer in control of your mind. Auditory hallucinations are also a symptom of schizophrenia, and those with the disease often hear voices which are hostile, mean and disturbing. But in Europe, a small band of clinicians, led by the Dutch psychiatrist and president of Intervoice, Marius Romme, MD, PhD, is exploring new ways to treat the problem of hearing distressing voices. A recent interview with one of Romme’s colleagues, Dirk Corstens, MD, and two of his patients, was featured in The Atlantic.

Stanford anthropologist Tanya Luhrmann, PhD, has worked extensively with people who hear voices, and a recent study she conducted compared the experiences of psychotic patients with auditory hallucinations living in three very different locales – San Mateo, California; Chennai India; and Accra, Ghana. Her team found that the voices of Indian and Ghanaian patients were more likely to be playful and benign, whereas those of U.S. patients were on average more threatening.

When Luhrmann took time to talk with me to discuss the implications of her research and the new approach, which calls itself the Hearing Voices movement, she noted early on that although the treatments espoused by the new movement won’t work for everyone, “The Hearing Voices approach is very important and has an important kernel to it.”

Some of what the group advocates is controversial. “They often reject the idea of schizophrenia, are hesitant about medication, and have a model of hearing voices that identifies sexual trauma as the most important cause of hearing voices,” she says. But a growing body of scientific evidence shows that it may be useful to teach people to interact with their voices.

The Hearing Voices movement, says Luhrmann, advocates seeing the voices as meaningful, treats them as people, respects the voices and encourages patients to interact with them with the help of a trained clinician. One of the patients featured in The Atlantic piece described how he learned to work with the voices he heard:

[Dr. Corstens and I] started to work with each other five years ago, or more. I was around 20 years old. It took about two years of work to actually figure out what the relationships were, what the triggers for the voices were, and what feelings are coupled to these voices. Once you start to learn to express yourself and work out these problems on your own, the voices don’t have to act out their part. Now, when I hear voices, I know what triggered them. I ask, “What is happening with me? What am I neglecting in my own emotions?” Does that make sense?

Luhrmann says that while more research needs to be done, it seems that some patients appear to benefit and the voices they hear diminish, or at least become less aggressive and intrusive. But she cautions that the method may not be appropriate for all patients. “I think it’s important to remember that schizophrenia is a difficult heterogeneous experience,” she says. “It’s pretty clear, even at this early point, that these new techniques don’t work for everyone.” At the same time, she points out, research on related practices like cognitive behavioral therapy has been shown to ease the severity of the voice-hearing experience.

The new movement is mostly centered in European countries at the moment, but Luhrmann notes that it’s growing fast in a grassroots kind of way, somewhat in the way Alcoholics Anonymous grew in the last century. She predicts that some of the approaches used by the group will probably be used among patients with schizophrenia here in the U.S. in the next decade.

Previously: The link between mental-health conditions and cardiovascular diseaseNew thinking on schizophrenia, it’s the mind, body and social experience and Study shows meditation may alter areas of the brain associated with psychiatric disorders
Image by Craig Finn

Events, In the News, Research, Science, Stanford News

Breaking through scientific barriers: Stanford hosts 2015 Breakthrough Prize winners

Breaking through scientific barriers: Stanford hosts 2015 Breakthrough Prize winners

6018618935_38997291a8_zYoung scientists, I have good news: Nearly all of the 2015 winners of the Breakthrough Prize in Life Sciences pledged to devote at least some of their new-found riches to education programs that encourage budding scientists. No details yet, as the prizes were less than a day old when the researchers announced their plans at the Breakthrough Prize Life Sciences Symposium hosted by Stanford  yesterday.

“The Breakthrough Prize winners have done such amazing things,” said Lloyd Minor, MD, dean of the School of Medicine. Minor lauded the  founders of the award, Silicon Valley luminaries Sergey Brin and Anne Wojcicki, Jack Ma and Cathy Zhang, Yuri and Julia Milner, and Mark Zuckerberg and Priscilla Chan. “They have put together this wonderful way of rewarding and awarding scientists for the work they are doing. It’s a real privilege for us at Stanford to host the symposium.”

The six scientists, who each won a $3 million award, fielded questions and let the audience in on a secret: the path toward scientific success wasn’t always easy.

“I would have never, ever in a million years have predicted I would have been sitting up here,” said C. David Allis, PhD, a professor at The Rockefeller University who was honored for his discoveries in chromatin biology, or the study of the proteins associated with DNA. Chromatin was once thought to be useless and Allis said he received plenty of criticism about his research focus.

Jennifer Doudna, PhD, a professor of molecular and cell biology and chemistry at UC Berkeley, said she didn’t know any scientists growing up in Hawaii. It wasn’t until a cancer researcher visited her high school, giving Doudna her first glimpse at her future career. Doudna, who is also affiliated with the Howard Hughes Medical Institute and the Lawrence Berkeley National Lab, won along with microbiologist Emmanuelle Charpentier, PhD, for their work on genome editing. Charpentier leads the department of regulation in infection biology at the Helmholtz Centre for Infection Research in Germany.

Gary Ruvkun, PhD, said that although he’s a professor of genetics at Harvard Medical School and the Massachusetts General Hospital, he still hasn’t mastered the art of mentoring. “I’ve had people in my lab refer to me as the least grown up,” he said.  Ruvkun was recognized — along with molecular biologist Victor Ambros, PhD, of the University of Massachusetts Medical School — for their work on microRNAs, small pieces of RNA that regulate gene expression.

All of the winners thanked their family, mentors, colleagues, but Alim Louis Benabid, MD, PhD, thanked his patients as well. Benabid, board chairman of the Clinatec Institute in France, said many patients are embarrassed when their doctor asks them to take off their clothes. His patients let him stick his fingers in their brains, he joked. Benabid was honored for demonstrating that deep brain stimulation can alleviate some symptoms of Parkinson’s disease.

In the full-day symposium, several former Breakthrough Prize winners spoke, and Bay Area graduate students and postdocs hosted a poster session.

Previously: Are big-money science prizes a good thing?, Funding basic science leads to clinical discoveries, eventually and Why basic research is the venture capital of the biomedical world
Photo by Petras Gagilas

Addiction, Behavioral Science, In the News, Mental Health, Research, Stanford News

Veterans helping veterans: The buddy system

Veterans helping veterans: The buddy system

image.img.320.highI interviewed Army specialist Jayson Early by phone over the summer, shortly after he completed an in-patient program for PTSD at the Veterans Affairs hospital in Menlo Park. This was for a Stanford Medicine magazine story I was researching about a pilot project to help get much needed mental-health services to the recently returned waves of Afghanistan and Iraqi vets. What struck me most after talking with Early was just how clueless he had been, first as a teenaged-recruit, then as a young veteran, about the fact that going to war could cause mental wounds.

As the mother of a 17-year-old boy, though, I completely understood: Early just wanted to serve his country. He requested to be sent to war. In 2008, he got his wish and was deployed to Iraq just a year after exchanging his high-school baseball uniform for military fatigues. His first field assignment, an innocuous-sounding public affairs errand to photograph a burned out truck at an Iraqi police station, would be the first of many that left him with permanent scars:

“There were body parts, coagulated blood, hair all over,” [Early] says, pausing. “I just wasn’t expecting it.” An Iraqi family had been executed in the vehicle, presumably by insurgents. Early had gone through intense military training to prepare for moments like these. He blocked any emotions. He followed orders, clicked the camera and moved on. It wasn’t until years later that he realized just how permanently those images, and many more like them, had burned into his brain.

Stanford psychiatrist Shaili Jain, MD, interviewed in a podcast about her work with PTSD and veterans, had told me about a new pilot project that connects veterans with other veterans as a unique way to bridge what she called a “treatment gap” – the difficulty of getting mental-health services to the veterans that need them. My article – which is a timely read, given that today is Veterans Day – tells the story of Early’s connection with one of the veteran’s hired through this project, Erik Ontiveros, who went through treatment for addictions and PTSD himself, and just why it’s so hard to get treatment to veterans. As one well-known expert on PTSD explains in the story:

“It’s wicked difficult to treat anyone with moral injuries from combat in the traditional medical model,” says psychiatrist Jonathan Shay, MD, an expert on PTSD known for his books on the difficulties soldiers face returning home from war. “It destroys the capacity for trust. What it leaves is despair, an expectation of harm, humiliation or exploitation, and that is a horrible state of being. The traditional medical model – in an office with the door closed – is the last thing they want. I’m convinced that’s where peers come in. Peers are indispensable.”

Early told me many of his horror stories from war – stories that he rarely talks about. The time he was called to another execution area where there were enough body parts for 12 people who had all been gagged, bound, shot and burned. But, he said, they could only put together eight people. “We were trying to find a way to identify them,” he said. “Whenever I grabbed a hand, it would just crumble to dust.”

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Ethics, Health Policy, In the News, Medicine and Society, Transplants

Moving the needle on organ donation

Moving the needle on organ donation

For the thousands of people on organ donation lists, news of an available heart, or lungs, or liver can’t come soon enough. But many don’t get that call in time. According to a new feature on The Atlantic’s website, 21 people die waiting for a transplant every day. That works out to more than 7,600 patients every year.

Unfortunately unless you’re personally touched by the issue… you don’t really think about it

Although many people say they support organ donation, in many countries, only a minority actually register as organ donors. (“Unfortunately unless you’re personally touched by the issue, unless you have a child that gets a virus and suddenly needs a new heart, you don’t really think about it,” one expert says in the piece.) It’s a paradox many people in the field are trying to unravel. The reasons they’ve uncovered so far include mistrust of medical professionals: Some people believe that if a medical team finds out that you’re an organ donor, they won’t work as hard to save your life, in order to harvest your organs. And how much TV a person watches can influence how much he or she trusts doctors. One study found that people who watched more of the TV series Grey’s Anatomy were more likely to mistrust doctors and nurses.

Religion also influences the picture, probably because of concepts of bodily integrity in the afterlife. Catholics are less likely to donate their organs, even though the Vatican officially supports organ donation.

So what can be done about the organ shortage? Some groups are working on solutions, as highlighted in the piece:

“What we’re trying to do in New York is move the cultural needle on the issue,” says Aisha Tator, executive director of the New York Alliance for Donation. “Organized tissue donation should be a cultural norm like we did with bike helmet and seatbelt interventions.” Her organization isn’t the only one. Throughout the United States there have been a smattering of recent educational campaigns and studies on their efficacy. Campaigns have targeted the young, the oldnursesDMV employees, and ethnic minorities who tend to donate less than white Americans or white Brits.

Another, more drastic change is to shift the U.S.’s current opt-in system to one that requires people to opt-out. Many experts point to Spain, which has an opt-out system – and one of the highest rates of organ donation. But the logistics of such a system would probably be difficult, best, to implement.

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