As the call for pitchers and catchers to report goes out in Arizona and Florida, amateur athletes are also getting the itch for warm weather and outdoor activity.  Whether you’re dusting off your baseball glove, your tennis racket, or your golf clubs, it’s not too early to start thinking about avoiding a sports injury that could keep you out of commission for most of this season. On Wednesday, March 2nd, at the Tinley Park Convention Center, the University of Chicago Medical Center will present a free seminar, Stay in the Game, featuring a panel of sports medicine specialists (and a buffet and iPad raffle, to boot).

Among the panelists will be J. Martin Leland, MD, assistant professor of surgery, and ScienceLife’s go-to expert on sports medicine topics. Leland has worked with professional baseball teams, college athletics programs, and youth athletes of all ages to diagnose and treat sports injuries such as torn labrums and ligament sprains, using physical therapy, non-surgical interventions, or surgical procedures whenever appropriate. But Leland also has an interest in preventing those injuries from happening in the first place, and will present tips on avoiding elbow and shoulder damage from various sports at the Tinley Park program.

“Prevention is very different. You’re thinking of very different things in terms of preventing injuries compared to if you’re trying to rehab one,” Leland said. “If you’re trying to rehab a specific injury, you’re going to have a very specific course. Prevention tends to be a broader strategy.”

As such, Leland identified four areas where injury prevention can be strengthened for athletes of all ages: conditioning, equipment, hydration, and mechanics. Though he’ll expand upon those topics at Wednesday’s event - and will, of course, answer attendee’s questions - here’s a sneak preview of his tips for avoiding the disabled list this year.

Conditioning

“I’ve worked with numerous professional baseball players, some of whom are incredibly flexible, to the point where grown men who are centerfielders in Major League Baseball can do a split at the drop of a hat,” Leland said.

That’s testimony to the importance of stretching and flexibility in avoiding sports injuries - a ritual you can personally observe if you ever show up early enough to watch the warm-ups before a baseball game. But amateur athletes should also be sure to stretch their muscles before any type of strenuous activity, even for a sport like golf that seems distinctly low-impact. People can loosen muscles with an activity as simple as jumping jacks, Leland said, but should make sure that all stretches are “slow, gradual, and progressive,” holding the stretch for at least 30 seconds, and avoiding stretches that could actually do more harm than good.

“You’ll see some people when they’re trying to stretch their hamstrings, they’ll bounce up and down,” Leland said. “That actually increases your risk of injury, and you can strain or tear a muscle doing those stretching exercises alone.”

Equipment

One of the most important precautions against injuries on the playing field is simply making sure the playing field is as safe as possible. Many youth baseball leagues have started to transition to new magnetic breakaway bases, Leland said, replacing the more common rigid, locked-in-place versions that can cause ankle and leg injuries during slides.

“When you slide into them really hard, the breakaway bases will move out of the way and it’s not like you’re basically sliding into a brick wall,” Leland said.

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I’ve said it before, but the AAAS Meeting is my favorite scientific conference, a cross-disciplinary feast of research that’s perfect for omnivores of science. As I wait for the meeting to return to Chicago (2014!), I spent the week attending from afar through the many online recaps. Depending on your preferences, you can get your AAAS download from The Economist (writing about alchemy, of all things), Science News, in podcast form from Scientific American, The Scientist, the inside-baseball view of the Knight Science Journalism Tracker, or AAAS itself. Or you can read more focused recaps of a study that suggests being bilingual can protect against Alzheimer’s disease, the debate over how to effectively communicate climate change to a skeptical public, or monkey video-game self-awareness.

The University of Chicago was represented at the meeting by two talks on very different subjects: the future of health care spending, and the history of human evolution. David Meltzer, associate professor of medicine, argued that cost-effectiveness studies must be performed to control surging health care costs in the United States and other countries. Runaway costs can be partially explained by the flood of new technologies and therapies that are dropped into the healthcare market each year, Meltzer argued. While the FDA makes sure that these new technologies are safe for patients, there is less oversight on whether they actually will offer enough clinical value for their often high price tags. Even old methods, such as pap smears to screen women for cervical cancer, have rarely been assessed from an economic perspective, Meltzer said. Yearly pap smear exams are three times as expensive as exams every three years, but increase life expectancy by only 32 hours compared to less regular screening.

“The value of scientific advance and the resources available for it are greatest when we use scientific advances wisely,” Meltzer said.

On the other end of the spectrum from the future of medicine, Anna Di Rienzo, professor of human genetics, spoke about the history of man. Expanding upon her PNAS study from 2010, Di Rienzo presented genetic data found by her method of using environmental differences to find regional variation. In this case, the search ended in sweat: a gene called keratin 77, expressed in the sweat glands of the body, that has a variant more prevalent in hotter regions of the world. That variant may have become popular in tropical populations due its role in cooling off the body, but in the modern world, such environmental adaptations may be counter-productive.

“We know for sure that a lot of these differences are due to environmental risk factors that differ,” Di Rienzo said, according to Science News. “But there’s also a growing consensus that genetic factors may also contribute to these differences in disease or trait prevalence.”

Elsewhere…

Last May, we told you about Zoltan Takacs, who spends half his year chasing venomous animals around the world and the other half studying their poisons in the University of Chicago laboratory of Steve Goldstein, professor of biophysics. The good people at PBS’ Nova series got wind of Zoltan’s exciting adventures, and featured him in an episode this week on the potential of deadly venoms to be re-cast as life-saving medications for diseases such as cancer and heart disease. That’s one of his snake photographs up top.

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In a famous 1999 study, 700 physicians were given a simple case-study task. Each watched a video of a patient-actor describing chest pain and were given basic test results for that patient. Each doctor was then asked whether they would recommend the patient for cardiac catheterization, an additional diagnostic procedure. The patient cases varied in terms of type of chest pain, stress test results, and heart history, influencing the physician’s eventual decision. But when all of those clinical factors were controlled for, two other factors remained: race and sex. With everything else equal, black patients and female patients were 40 percent less likely to be recommended for catheterization; black, female patients were 60 percent less likely to be sent to advanced care.

“People assume that when physicians take the Hippocratic oath that somehow there is a miraculous, magic process that makes us free from any inherent stereotypes or biases that we may have had through our whole lives,” said Monica Peek, assistant professor of medicine in her MacLean Center for Clinical Medical Ethics seminar. “We want to be good physicians and give good care and be unbiased in our assumptions. But there’s not really any magic that happens just because you get a medical degree.”

Many studies of the health effects of discrimination focus on the world outside the doctor’s office, where the cumulative effects of sexism and racism negatively affect clinical measures such as hypertension and cardiovascular disease. Less attention is paid to discrimination within the healthcare system, Peek said, the often subconscious biases that physicians and other caregivers may use to make snap judgments about patients. Discrimination in this setting might directly affect preventative measures such as vaccination or screening, lower adherence to prescribed medications, and decrease patient satisfaction.

One way to combat discrimination within healthcare is to elevate the patient’s role in their treatment, creating a patient-centered and shared decision-making model. Research suggests that when the patient is an active participant in their care rather than a passive recipient of doctor’s orders, measures of trust, understanding, and satisfaction improve - and chronic disease measures such as glucose levels and blood pressure are better controlled. But for many African-Americans, shared decision-making in a healthcare setting is a foreign concept.

A 2008 focus group study led by Peek found that many African-American patients wanted to be involved in the decision-making process with their doctor, but many told stories that showed a less than equal relationship:

• “We make decisions together and she gives me what I’m suppose to take and she knows what I’m suppose to take.”
• “She told me I need to go to the dermatologist … Now the lady up there at the check out desk. I told her that I didn’t want to go.”
• “See, when the doctor tells me what to do, then I can make up my mind whether or not to do [it].”

“Basically African-Americans…wanted shared decision-making as much as their non-hispanic white counterparts when we adjusted for class and education - and maybe a little more so,” Peek said.

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We are pleased to announce a new way to keep up with research news from the University of Chicago Medical Center, in the form of a regular audio podcast. Because we are all about evolution at ScienceLife, we will start by posting the pilot episode - Episode #0, if you will - and asking for help in shaping the podcast’s development. For starters, the podcast needs a name; if you have any suggestions, leave them in the comments or e-mail us at robert.mitchum@uchospitals.edu and/or dianna.douglas@uchospitals.edu. We would also love to hear what you want in a University of Chicago Medical Center podcast: more research news, patient stories, Q&As with doctors and scientists, or other segment ideas. Whether you’re in your car, in your office, or on the treadmill, enjoy listening to our debut effort!

In the pilot episode of the podcast to be named later, hear from Dianna Douglas and Rob Mitchum about the inaugural symposium of the new Sleep, Metabolism, and Health Center (SMAHC), a study of sexuality in female cancer survivors, and the identification of new targets in celiac disease.

University of Chicago Research Podcast Episode #0 by robmitchum

Imagine yourself at a street corner, watching cars go by and waiting for your turn to cross. When the eye tracks a moving object like a car, it inspires fireworks of activity in the visual systems of the brain. Initially, the information is pixelated into independent scraps, as primary visual neurons respond to their preferred shapes (edges, corners, and points on the car) and directions. But in a subconscious flash, the brain performs the complex calculations needed to transform those individual elements into a complete picture that accurately predicts the true movement of the car: to the left, to the right, or straight AT ME!

The laboratory of Sliman Bensmaïa, assistant professor of organismal biology and anatomy at the University of Chicago, has demonstrated that the brain processes the basic elements of touch very much like it handles visual information. Neurons in the somatosensory (the fancy neurobiology name for touch) system show directional selectivity just like primary visual neurons. Drag a pen cap along a finger, and one neuron responds to rightward movement, while another responds to the cap moving left.

Collecting information about the outside world in the same way presumably allows for easier communication between the visual and somatosensory systems in the brain, which would be important for tasks that require both seeing and touching. But do the similarities extend beyond the initial gathering of sensory information, including how that piecemeal data is assembled by the brain into a complete picture?

In a 2008 paper in the Proceedings of the National Academy of Sciences, Bensmaïa and collaborators Yu-Cheng Pei and Steven Hsaio determined the answer was yes. Complex stimuli such as the “barber pole illusion” or moving plaids are often used by scientists to test the limits of the visual system and determine which computational strategy the brain uses to predict overall direction of motion from a bunch of sometimes contradictory stimuli. When the same complex patterns were recreated as a touch stimulus (a process that requires a multi-million-dollar one-of-a-kind machine that controls 400 tiny pins with 400 separate motors), the experiments suggested that the somatosensory system uses the same computational strategy as vision.

But upon further reflection, Bensmaïa and his team wondered if those tests were challenging enough to truly reveal the brain’s computational abilities. The plaids used in the PNAS paper, called Type I plaids, consisted of two gratings moving in different directions at the same speed - if one grating is going northeast and the other is going southeast, the eye and the finger both perceive the direction in between the two directions, as east.

Yet that test failed to distinguish between the two most popular models for motion processing. In the more simple model, the brain would merely average out all of the individual directions perceived and take the result as the “true direction.” In the more complex model, the brain would use an algorithm to compute the direction based on the motion of individual edges. The motion of one edge limits the interpretation of what the direction the whole object is moving - if you’re watching a car moving to the right, none of its edges will be moving left. In fact, only two edges are needed to calculate the true direction of motion for an object, but this process requires more complicated computation than mere averaging. Yet, the simple model can also give the right answer for a complex stimuli if the brain focuses more heavily on particular elements, called end-stop terminators, that give more accurate information about the overall direction; in the case of the plaids, the corners where the two gratings intersect.

To separate between these two models, more complex plaids were needed. In a paper published last week in Neuron, Bensmaïa’s team used Type II plaids (example at left), where the two gratings moved at different speeds, to try and confuse the sensory systems even further. This time, vision and touch were not found to be created equal.

“When we presented this plaid we fully expected the same thing would happen in vision and touch, and the truth of the matter is: it didn’t,” Bensmaïa said. “We found a tactile illusion.”

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The low diversity "trough" around human-specific gene substitutions (from Hernandez et al, Science, 2011)

The ultimate genetic detective story is solving the mystery of human evolution. Since it became possible to look at genetic sequences in humans and their primate relatives, geneticists have hunted for the footprints of how humans evolved. But finding the most significant places in the genome that changed since humans and chimpanzees split off from their common ancestor 6 million years ago isn’t easy. With more than 3 billion base pairs in the human genome - which we have only recently been able to sequence in full - geneticists needed to develop strategies to narrow down the potential places of key genetic changes. But what if those strategies were wrong?

That’s the seismic question asked by a paper in Science last week by former University of Chicago post-doctoral researcher Ryan Hernandez, professor of human genetics and evolution & ecology Molly Przeworski, and scientists from England and Israel. Using data from the massive 1000 Genomes Project, the researchers tested the the classic selective sweep model, the predominant strategy used to look for evolutionary footprints for the last 35 years. But with a new, larger dataset, Hernandez and colleagues found little evidence for selective sweeps in the history of our species. Instead, the evolution of humans may have progressed by baby steps, rather than large strides.

Since a 1974 paper on the “hitch-hiking” of favorable genes, geneticists have hunted for selective sweeps in the human genome. As the theory goes, when a beneficial mutation appeared in early humans, it conferred such an immediate, large advantage to its carriers that it quickly “swept” through the entire population. That rapid spread should leave a detectable mark in the human genome - a patch of reduced diversity, where propagation of the gene out-paced the gene-shuffling effect of recombination.

By looking for regions of low diversity in the genome, geneticists were able to identify approximately 2,000 human genes (roughly 10 percent of the total) that showed evidence of selective sweeps. Such a high frequency suggested that selective sweeps were the leading mechanism by which humans evolved away from their primate relatives, as well as how different modern populations (i.e. African, Asian, or European origin) evolved smaller differences in the last 100,000 years.

“The selective sweep model was introduced in 1974 and has pretty much been the central model ever since,” Przeworski said. “It is fair to say that it is the model behind almost every scan for selection done to date, in humans or in other organisms.”

But in order for the selective sweep model to hold up, the patches of low diversity used to find them would have to only occur around genes with meaningful changes in humans. Using 179 of the genomes collected for the 1000 Genomes Project - a much larger set of data then ever available before - Hernandez, Przeworski, and colleagues compared the diversity surrounding two groups of human-specific genetic changes, where a new base pair was introduced into the gene code. In the first group, the new base-pair changed the code such that a new amino acid was put into the protein encoded by the human gene, presumably changing its function. In the second group, the new base-pair was “synonymous,” encoding for the same amino acid and leaving the encoded protein unperturbed.

But when the two groups were compared, the “trough” of low diversity was equal for both changes with functional effects and changes with no effect at all. The result suggests that low diversity is false evidence for a selective sweep, and that those sweeps are likely to have been only occasional contributors in the story of human evolution.

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What the science of science looks like. (From Evans & Foster, Science, 2011)

Perhaps the biggest science story of the week took place, oddly enough, on a game show. The victory of an IBM supercomputer named Watson over human contestants on Jeopardy burned up the Internet, launching a million jokes about impending robot enslavement of humans and comparisons to 2001’s HAL. Now attention is starting to turn to how the best question-answering computer yet invented can next be applied to targets more meaningful than trivia, including helping doctors make medical diagnoses. But the computational methods behind Watson - essentially a giant word-association machine - might also help the world of science take a hard look at its own biases and flaws, according to an editorial in Science last week by two University of Chicago sociologists.

The key word is “metaknowledge,” James Evans and Jacob Foster write, meaning the assembly of knowledge about knowledge. Though the term is a bit on the Orwellian side - “Metaknowledge results from the critical scrutiny of what is known, how, and by whom” - it’s a name for the acquired instincts used by experienced scientists to read between the lines of scientific research articles. A newcomer to the field may only see the methods and results written on the page, but an experienced reader perceives additional information: the reputation of the author, the institution, and the journal, the history of the subject, and the biases and assumptions inherent to any scientific study.

Evans and Foster propose that the shift toward electronic publication and the growing ability of computers to find meaning in massive amounts of data could enable a formal study of this unwritten metaknowledge - and potentially make science more accurate and efficient. A machine trained to detect patterns in scientific literature could help sniff out a multitude of known issues that distort or impede scientific results. Many of the phenomena listed by Evans and Foster have colorful names, such as:

• the “file-drawer problem” - the tendency for experiments with negative results to go unpublished, biasing the literature toward the experiments that showed an effect
• the “Proteus phenomenon” - when scientists flock to a high-profile finding to gain attention by extending or debunking the original research.
• “ghost theories” - when unspoken assumptions of a field (i.e. the use of undergraduates in most psychology studies) influence the results.

Instead of slowly learning these house rules the hard way through the frustrating and slow process of accumulating scientific wisdom, a metaknowledge machine might make the implicit aspects of science explicit. That could help a graduate student avoid wasting time on experiments that have already been done, or help the government route funding to scientific areas that are truly promising, instead of just popular.

“Metaknowledge could inform individual strategies about research investment, pointing out overgrazed fields where herding leads to diminishing returns as well as lush ranges where premature certainty has halted promising investigation,” Evans and Foster write.

Elsewhere…

The crossover of technology into science and medicine doesn’t have to happen at the level of supercomputers - consumer electronics are also making an impact in the hospital wards. Since last fall, medical residents at the University of Chicago Medical Center have been using iPads on their daily rounds to check test results, view X-Rays and MRIs, and order medications for patients at the bedside. Nesita Kwan from NBC News came out a couple weeks ago to report on how these devices are making medical care more efficient, and how Bill Gates himself responded to one resident’s e-mail.

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When health disparities in urban populations are discussed at the University of Chicago Medical Center, it’s not an abstract, far-away concept. Only a few blocks west and south of the hospital campus are some of the poorest neighborhoods in Chicago, where nearly every health statistic one finds is shocking. Pick any measure - diabetes, heart disease, obesity, infant mortality, or violence - and the numbers in some South Side neighborhoods are closer to those found in developing countries than they are to more affluent North Side neighborhoods mere miles away. The problem is exacerbated by a decline in health services on the South Side of Chicago, from losing more than 2,000 hospital beds in the last decade to a sparse density of grocery stores and exercise facilities.

In response to this health crisis, the Medical Center launched the Urban Health Initiative to execute a multi-faceted campaign of patient care, education, and research. But an important first step in fixing the health disparities on the South Side of Chicago is measurement, obtaining updated and accurate statistics on the healthcare needs of the region and cataloging the resources already available. At the MacLean Center for Clinical Medical Ethics seminar series earlier last week, associate professor of obstetrics/gynecology and medicine Stacy Lindau updated the progress of the UHI’s measurement arm, the South Side Health and Vitality Studies.

The first aim of the SSHVS is to build a map - not of transportation routes, but of neighborhood assets. Recently, organizations such as the World Health Organization and the Robert Wood Johnson Foundation have started to define an area’s health system as “intersectoral,” stretching beyond direct medical care to other aspects of the community that impact the population’s health. For the last two years, the Community Asset Mapping project of the SSHVS has sent out college and high school volunteers to measure assets such as grocery stores, gyms, daycare centers, government services, churches, and more on the South Side of Chicago. The fruits of those efforts are twofold: both a resource for the community and a baseline for UHI research on improving the broader infrastructure of the region, Lindau said.

“Has anyone ever described anywhere all the components of an intersectoral health system and how they’re working together? Has it ever been empirically evaluated or studied? The answer is no,” Lindau said. “But where are we starting to this? Here on the South Side of Chicago, where we’re mapping every single built asset in the primary service area of the University of Chicago…and trying to understand: if everybody’s in the health system, then what’s everybody’s role?”

So far, 11 of the 34 community areas that make up Chicago’s South Side have been mapped, and the information is already proving its value as the “highest-quality asset list for this region,” Lindau said. Compared to the most recent commercially-available resource guide, the mapping project found 4o percent more assets…and found that 30 percent of the resources listed in the commercial guide were no longer in existence. Unlike that flawed information, the mapping project’s data is available for free through a customizable map program on southsidehealth.org (one of many website domains the program has wisely snapped up for community outreach purposes) that allows visitors to search by asset-type and location for 16 different categories. Lindau also hopes to someday incorporate the information into electronic medical records, so that patients can take home a printout of their nearby health resources after a doctor’s appointment.

“You can’t do this on Yelp or Google,” Lindau said. “You can’t map places by disease or by need. I think we have something really special here.”

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The immune system is designed to protect the body against foreign invaders, neutralizing disease and infection. But organisms are all too happy to invite invasions several times a day through a seemingly innocuous act: eating. When food enters the digestive system, it has to be dealt with by the immune system just like everything else that finds its way into the body. Under normal circumstances, the immune defenses recognize that food is not a threat and lay down their arms. But in the case of food allergies or digestive disorders, certain types of food are treated as dangerous enemies, with unpleasant consequences for the person.

Celiac disease is one such disorder, where patients suffer painful symptoms after consuming gluten, a dietary protein found in wheat, barley, and rye. Rather than building up a tolerance to the protein that allows for untroubled digestion, the immune system treats gluten as a threat and activates its defensive weapons, including inflammatory factors that attack the lining of the small intestine. As a result, an innocent piece of bread for most people can be absolute misery for one of the 3 million Americans with celiac disease, causing abdominal pain, diarrhea, vomiting, and more serious chronic symptoms.

So far, the best treatment for celiac disease is plain old avoidance - a gluten-free diet to prevent digestive symptoms. Because the immune system is so complex, researchers have struggled to find the exact components responsible for the intolerance to gluten. But clues abound from patients treated at clinics such as the University of Chicago Celiac Disease Center, including unusually high levels of an immune factor called interleukin-15 in the patients’ intestines. That clue was the starting point for a new study published last week in Nature and led by Bana Jabri, associate professor of medicine at the Medical Center, that tracks down two triggers of celiac disease that may prove crucial to better treatments.

Interleukins are the messengers of the immune system, carrying signals that instruct the body’s defensive force to ramp up or stand down, depending on their context. In the gut, interleukin-15, or IL-15, was found by Jabri and colleagues to inhibit the activity of regulatory T cells, peacekeepers that block the immune response on targets that are considered non-threatening. After repeated exposure to gluten, most people build up a tolerance to the protein and are able to digest the nutrients in grains and breads without trouble. But for people with celiac disease, elevated IL-15 may interfere with this cease fire.

The researchers further tested their theory by engineering mice that over-expressed IL-15 in their digestive systems. When these mice were fed a protein found in eggs, another common food allergy trigger, the result was inflammation instead of tolerance - as is seen in celiac disease with gluten. Conversely, blocking IL-15 activity restored the normal response in the mice.

“We found that having elevated levels of IL-15 in the gut could initiate all the early stages of celiac disease in those who were genetically susceptible, and that blocking IL-15 could prevent the disease in our mouse model,” Jabri told John Easton.

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Stacey Sandbo and Stacy Lindau counsel a patient at the PRISM clinic. (Photo by David Christopher)

If your oncologist is worried about your sex life, you’re probably a man.

Stacy Lindau, associate professor of obstetrics/gynecology and geriatrics, has been researching how often women get help for sexual problems after surviving cancer, and the data are grim. Almost none of the women in her study got treatment, and half of them said they wanted it.

Breast or gynecologic cancer is rough on a woman’s sexuality. It often means hormone treatments, chemotherapy, or surgical disfigurations. Cancer could take a breast, the ovaries, or most of the reproductive tract.

Typical results: severe pain during sex, dryness, and difficulty with arousal and orgasm. A mastectomy or hysterectomy will often leave scars that make a woman feel less feminine and attractive. Add that to frequent bladder infections or incontinence after sex, and women find they’re facing some complex problems in bed after cancer. Sometimes the problems persist for years.

Despite abundant research about the negative effects of breast and gynecologic cancers on a woman’s sexuality, a 2002 survey found that physicians generally do not discuss it with their patients. This is in stark contrast to prostate cancer, Lindau said, where men and their doctors talk early and often about preserving sexual function. The dialogue usually begins as soon as a man is diagnosed with prostate cancer, and continues through treatment and beyond.

Lindau, who made national headlines in 2007 by telling Americans about the active sex lives of senior citizens, surveyed hundreds of survivors of breast and gynecological cancer for a study published in Cancer. She asked them who wanted a physician’s advice for sexual problems. Forty-eight percent of young cancer survivors said they did. Interest peaked in women between 48 and 55 - over 52 percent.

It dropped to a fifth among the women over 65. Still, that’s a lot of older women wishing a physician would explain to them why their sex life stalled after cancer and how to get their groove back.

So if women want this help from their physician, why aren’t they asking for it?

One reason is that patients overwhelmingly prefer for their doctor to initiate the discussion. That, however, is a can of worms that physicians won’t open without somewhere to refer their patients for treatment.

“There are few clinics in the United States with the expertise to treat sexual problems in women and girls with cancer,” Lindau said. The University of Chicago has the only one in Illinois, and one of few in the country - the PRISM clinic (Program in Integrative Sexual Medicine for Women and Girls with Cancer).

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Janet Rowley rides her bike in front of the Gwen & Jules Knapp Center for Biomedical Discovery. (Photo by Jason Smith)

It never gets old hearing the story of how Janet Rowley found the first genetic cause for cancer in the early 1970’s, so it’s a delight to read this week’s New York Times conversation between Rowley and reporter Claudia Dreifus. The interview retraces Rowley’s steps from working with mentally disabled children at Cook County Hospital through her almost accidental training in cytogenetics and her most famous discovery - the chromosomal translocation that causes acute myeloid leukemia. While Rowley has been repeatedly honored for her contribution to the concept of cancer as a genetic disease (and continues to remain a yearly subject of Nobel speculation), she remains understated in looking back at her life’s work.

“People accuse me of being too humble. But looking down a microscope at banded chromosomes is not rocket science. If I hadn’t found it, somebody else would.”

To go with the New York Times interview, the University of Chicago Facebook page put out a call for questions to Rowley, and have received some interesting thoughts. There’s still time to get your question in there for one of the most respected cancer researchers in the United States and a key figure in the history of genetic disease research. [See also Lisa Belkin's post on the New York Times parenting blog about recent research on barriers against women in science, in which she cites Rowley's example.]

Elsewhere…

As a kid growing up in the Chicago suburbs, I remember being trained in emergency procedures for the seemingly infinitesimal chance of a Midwest earthquake originating in the New Madrid fault in Southern Missouri and Illinois. But despite recent rumbles in the Chicago area, it’s been 200 years since the last New Madrid quake to get into the 7’s on the Richter Scale, according to this nice New Madrid By the Numbers post by natural science blog +/- Science. Perhaps those school drills weren’t so crazy after all - the blog points out that in 2003 the U.S. Geological Survey estimated a 7 to 10 percent chance of a major New Madrid earthquake in the next 50 years.

Blue penguins, and what they have to say about how feather color is produced.

Things are finally getting back to normal in Chicago after last week’s blizzard, but amazing stories of Chicagoans helping each other out during the storm continue to pop up. Here’s one story, from Medill Reports, of a woman who delivered her baby at the Medical Center in the midst of the blizzard Wednesday.

Hillary Rosner, one of the many cool people I met at Science Online 2011, has a new blog at PLoS with the excellent name of Tooth & Claw (from Tennyson’s “Nature, red in tooth and claw,” often associated with natural selection). In her first post, she brings up a fascinating fruit fly name from our own Manyuan Long - “jingwei,” named for a Chinese myth of a woman who drowns and is reincarnated as a bird to have her revenge on the sea. As the 1993 study describes, the gene was once thought to be a “pseudogene” without function, but was later revived and used by Long to study the origin of new genes - an area he still studies today.

Finally, what better way to prepare for Valentine’s Day than reading Brian Switek’s article on dinosaur sex at Smithsonian Magazine. I love the lede.

“If sleep does not serve an absolutely vital function, then it is the biggest mistake the evolutionary process ever made.” - Allan Rechtschaffen.

We spend approximately one-third of our lives asleep, and yet there is still much to learn about why. Modern sleep research only began less than a century ago, when Nathaniel Kleitman founded the world’s first sleep laboratory at the University of Chicago in 1925. Since then, many of the mysteries of sleep have been uncovered by UChicago researchers, including the discovery of REM sleep by Kleitman and Eugene Aserinsky in 1953, and the characterization of the first sleep disorder, narcolepsy, by Rechtschaffen and Gerry Vogel in the early 1960’s.

But in the last two decades, the study of sleep has shifted from how it works and doesn’t work to the serious consequences when sleep is lacking. Locally, the hub of this new wave of sleep research is Eve Van Cauter, who has linked insufficient or irregular sleep to a long list of chronic diseases including diabetes, obesity, and heart disease. Earlier this week, Van Cauter was doubly honored in receiving the Frederick H. Rawson Professorship and headlining the christening of the new University of Chicago Sleep, Metabolism, and Health Center (SMAHC, pronounced “Smack”). Sleep scientists from UChicago, Northwestern University, and Harvard University gathered to discuss the latest evidence on just how important sufficient sleep is for good health. The consensus message was frightening: From infancy to the golden years, the failure to get a good night’s sleep can cause a wide variety of problems - and may be a major contributor to today’s most worrisome health trends.

The importance of sleep starts with birth, said David Gozal in his talk, and maybe even before due to epigenetic imprinting during the mother’s pregnancy. Gozal reviewed his paper from last month on the elevated risk of obesity in children with shorter and less consistent sleep patterns, but also presented even newer findings, including altered expression of metabolic genes in children who snore and mouse studies that found frequently-disrupted sleep can cause animals to ingest more food and retain more fat tissue. Meanwhile, more and more studies are finding that young children are not getting nearly as much sleep as recommended.

“Sleep curtailment is not only a problem of our adult society, but clearly has pervasively infiltrated to infants and young toddlers,” Gozal said.

The effect of poor sleep upon children may go beyond metabolic issues such as obesity and diabetes, proposed neurobiologist Daniel Margoliash. In both humans and birds, Margoliash’s laboratory has found evidence that sleep helps the brain consolidate information learned during the day into memory. As young birds sleep after a day of practicing their distinctive song, the brain recreates its activity patterns from those earlier performances, presumably part of the process of making that newly learned skill permanent. For schoolchildren, the lesson is clear: lose out on sleep, and you could be losing what you were taught during the preceding day.

Later in life, the problems associated with insufficient sleep only appear to grow worse. In older adults, chronic insomnia has been linked to cognitive decline, perturbations in hormones associated with hunger, and insulin sensitivity, said Northwestern’s Phyllis Zee. Women with polycystic ovary syndrome, a condition marked by infertility, hormonal dysregulation, obesity, and diabetes, are more than 8 times more likely to suffer from obstructive sleep apnea, said David Ehrmann. And the medical effects of poor sleep can literally appear overnight - Vineet Arora’s study of poor sleep in noisy hospital wards found an average blood pressure increase of 6.2 mmHg for every hour of sleep lost. read more

One of the most important functions of the brain is to make decisions. Even the simplest animals need to make choices based on sensory information: is that thing over there food or a predator, and should I eat it, or run from it? Making the right decision is literally a matter of life or death. In humans, our decision-making can grow far more complex, encompassing matters from choosing where to eat dinner to whether a defendant is guilty or innocent.

How those decisions are made has fascinated philosophers as far back as Plato, and been the subject of science books as recently as Jonah Lehrer’s How We Decide. Plato’s metaphorical tug of war between the rational mind and the emotional mind has been updated with brain imaging and psychological experiments to a balance between emotional centers of the brain (the amygdala, the insula) and the “rational” calculations of the prefrontal cortex. But as Lehrer nicely illustrates via airplane pilots, poker players, and Tom Brady, the prefrontal cortex doesn’t always make the best decisions, and human choices are often the product of an argument between a Congress of different brain regions.

One brain area that doesn’t appear in Lehrer’s book is the parietal lobe, a region located roughly in the upper middle of the human brain. An old-fashioned name for the parietal lobe is the “association cortex,” named for the region’s role in integrating sensory and motor information primarily mediated by other parts of the brain. As a hub between incoming sensory inputs (such as the sight of an attacking tiger) to behavioral motor outputs (such as RUN!!!), the parietal lobe would seem an obvious place for decision-making. But it was a different phenomenon that first led David Freedman, assistant professor of neuroscience at the University of Chicago, to the decision-making role of the parietal lobe.

As a graduate student and postdoctoral researcher, Freedman was interested in visual categorization, how the brain classifies the many objects around us into useful groups. Freedman trained subjects to form categories about shapes they were shown, such as the difference between dogs and cats. By recording from different areas of the brain, including the prefrontal cortex that is often implicated in decision-making, Freedman found that learned categories could be encoded in the activity of individual neurons - some began responding preferentially to cats, others responded to dogs.

“We’re not born knowing about things like furniture and vehicles, you have to learn about that through experience,” Freedman said. “So the experiments we did suggested that learned information about these kinds of visual categories can be encoded in the activity of individual neurons at the highest stages of the visual system and the frontal lobe.”

While at Harvard working with John Assad, Freedman found another area of the brain that seemed to play a role in categorization: a region of the parietal lobe called lateral intraparietal area, or LIP. The region had already attracted the attention of scientists studying decision-making at the University of Washington, Stanford, and NYU, who found activity there when monkeys performed a simple visual choice task.

In those experiments, subjects were shown an array of dots moving in one direction, and were rewarded when they darted their eyes (a motion called a saccade) in the same direction as the dots. When the researchers looked in the LIP - previously known to play a role in saccades - they saw an increase in activity as the subjects processed the dot stimulus, peaking with the decision to move their eyes in the correct direction. The dynamics suggested that such decisions might be encoded in an intentional framework, in which making a decision is inseparable from the motion to execute it. In other words, both deciding on a Diet Coke and moving your arm to press the right button on the pop machine originate from the same brain region and activity.

But Freedman wondered if the real job of LIP was obscured by the simplicity of the eye movement task. Because of its quickfire look-and-respond nature, the experiment could give a false impression about the tightness of the link between decision-making and action. So Freedman designed a more complex experiment, where subjects first learned to group the movement of dots into two directional categories, and then were shown two different arrays of moving dots one second apart. If the movement of the two arrays belonged to the same category, the subjects released a lever; if they were from different categories, they maintained their hold.

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The future of medicine, we are told time and time again, is genetic and personalized. Someday, physicians will call up the genetic code of a patient and determine their genetic risks and which treatments will work most effectively with the fewest side effects. That information can be organized into individual, unique medical plans for each patient, helping them avoid disease as much as possible and treat quickly and directly when illness does occur. Though completely personalized medicine remains years, if not decades, away, the first few glimpses of this future have arisen in recent years with gene tests that help inform decisions about blood thinners and cancer drugs.

But for all the talk of genetic medicine improving patient care, an important question lingers: what will it cost? The soaring costs of health care in the United States have been at least partially driven by the steep price tags attached to medical innovations. New drugs and tests tend to be expensive when they reach the market, and it remains to be seen whether the clinical advantages of personalized medicine will outweigh its potential costs.

To put this balance to the test, a team of University of Chicago researchers used one of the earliest successes of genetic medicine: monogenic neonatal diabetes. As profiled before on ScienceLife, some children who are born with a form of diabetes caused by a genetic mutation can be switched from daily injected insulin to a pill, with dramatic improvements to their quality of life and disease control. At last summer’s Celebrating the Miracles conference, the families of children who had successfully “transitioned” off of insulin spoke emotionally about how the switch had changed their lives for the better. But for all the heart-warming anecdotes, the financial benefits of testing for neonatal diabetes have not yet been assessed.

“Despite all the talk and the fact we have now sequenced the human genome, there are very few studies showing an actual benefit of all these tests,” said Siri Atma Greeley, instructor of pediatrics and first author of the study. “We have to prove to people that it can make a measurable and appreciable difference in dollars and cents.”

To test the cost-effectiveness of genetic testing in neonatal diabetes, Greeley and colleagues (many from the Kovler Diabetes Center) built a simulation of the costs and quality of life effects associated with the disease over 30 years. Beyond the daily costs of insulin and blood-sugar tests, children with diabetes are at risk of several complications, including blindness, stroke, and heart disease, that can further increase medical spending and decrease quality of life. But testing for the two most common genetic mutations in neonatal diabetes has costs too - roughly $2,800 at 2009 prices - and not every child tested will have a mutation that allows for switching from insulin to sulfonylurea pills. Children who develop diabetes before the age of 6 months have a high chance of testing positive for one of the mutations, but only 1-2% of children diagnosed between 6 months and 1 year old may have this form of monogenic diabetes.

Still, when the researchers ran the numbers, genetic testing clearly proved its worth. Alongside the health benefits one would expect to result from genetic testing of all children diagnosed with diabetes before the age of 6 months, the model also revealed dramatic financial savings over not performing the tests. By 10 years after testing, the average cost savings was over $12,000; by 30 years, the savings figure had climbed over $30,000. The results add a strong financial argument to the medical case for genetic testing of all infants with diabetes.

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photo by Cheryl Reed

A quick round-up of science around the web to end a busy, snowy week:

The “facepalm” has become a popular piece of the internet lexicon, alongside peers such as “epic fail” and “OMG.” But, as Ed Yong writes at Not Exactly Rocket Science, humans aren’t the only ones who make the universal expression of disgust and embarrassment. A group of Mandrill monkeys in an English zoo have started to make the expression. However, he writes, they may be signaling something different than facepalming humans: “Why are they doing it? It’s unlikely that they’ve found something stupid on the Internet.”

Jerry Coyne posts another example of purportedly human behavior observed in animals with the green heron - a bird that not only has a crazy expandable neck, but also has been filmed “fishing” by using a piece of bread as bait (yes, there is video). A webpage he links to at Tufts University contains a few other examples of bird tool use.

Earlier this week, in discussing his study on sleep and child obesity, David Gozal theorized that the modern family structure of two working parents has disturbed sleep routines for adults and children alike. Another study, released this week, appears to support that hypothesis, as a team including Ariel Kalil of the Harris School for Public Policy found an association between working mothers and their children’s body-mass index. Lead author Taryn Morrissey of American University stressed to Time magazine that the study is not meant to bash working moms, but rather to remind busy families about the importance of maintaining sleep schedules.”If all moms were to leave the workforce tomorrow, it wouldn’t solve childhood obesity,” she says.

With the Super Bowl coming up this weekend, allow us to point you back to a post written last year at the start of the World Cup about heart attacks in sports fans while watching important games. Some new research has come out in time for this year’s Big Game, including a study of LA fans during the 1980 and 1984 Super Bowls profiled by Ferris Jabr at New Scientist.

When you’re a hospital, you can’t call a snow day. If you’re curious as to how the Medical Center handled this week’s third-snowiest Chicago blizzard ever, here’s your answer: a lot of cots, and free lunch.

University of Chicago chemistry post-doc Niels Holton-Andersen views evolution as a “beautiful, amazingly huge experiment” that has produced elegant solutions to biological problems. His latest discovery is a self-healing, powerful adhesive produced by mussels, published last week in the Proceedings of the National Academy of Sciences. Mussels secrete the substance to stick to rocks in rivers and lakes, and researchers found that tweaking the pH of the adhesive can turn it into a self-healing gel, “kind of like Silly Putty,” Holton-Anderson said. The potential of the discovery was covered by “Green movement” blog Tainted Green.