When I was a kid, I spent all summer swimming and lying out by the pool without sunscreen. Now, I go to a dermatologist annually because I know early detection of melanoma is critical.
But not everyone has easy access to a dermatologist. So Stanford researchers have created an artificially intelligent computer algorithm to diagnose cancer from photographs of skin lesions, as described in a recent Stanford News release.
The interdisciplinary team of computer scientists, dermatologists, pathologists and a microbiologist started with a deep learning algorithm developed by Google, which was already trained to classify 1.28 million images into 1,000 categories — such as differentiating pictures of cats from dogs. The Stanford researchers adapted this algorithm to differentiate between images of malignant versus benign skin lesions.
They trained the algorithm for the task using a newly acquired database of nearly 130,000 clinical images of skin lesions corresponding to over 2,000 different diseases. The algorithm was given each image with an associated disease label, so it could learn how to classify the lesions.
The effectiveness of the algorithm was tested with a second set of lesion images with biopsy-proven diagnoses. The algorithm identified the lesions as benign, malignant carcinomas or malignant melanomas. The same images were also diagnosed by 21 board-certified dermatologists. The algorithm matched the performance of the dermatologists, as recently reported in Nature.
The researchers now plan to make their algorithm smartphone compatible to broaden its clinical applications. “Everyone will have a supercomputer in their pockets with a number of sensors in it, including a camera,” said Andre Esteva, a Stanford electrical engineering graduate student and co-lead author of the paper. “What if we could use it to visually screen for skin cancer? Or other ailments?”
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
For many people, living with chronic pain is a way of life. Unfortunately, existing pain medications are not always effective and can be addictive, which has led to an opioid epidemic in the United States.
In their search for better therapies to manage pain, researchers are investigating the underlying mechanisms that signal and control pain in the body. A central component of this pain pathway is a protein called Nav1.7, which is present at the endings of pain-sensing nerves. Nav1.7 is known to help alert your brain when your body encounters potentially harmful stimuli, like when your hand touches a hot pan.
Past research demonstrated that people with non-functioning Nav1.7 don’t feel pain. This discovery led to the development of drugs that block Nav1.7 activity. Unfortunately, these drugs didn’t really work. It turns out that the role of Nav1.7 is more complicated than first thought.
“It seemed so obvious and simple, but it was not so simple,” said Tim Hucho, PhD, a neuroscientist at the University Hospital Cologne in Germany, in a recent Science Newsstory.
Researchers have now found that Nav1.7 plays a second role — triggering the production and release of natural opioid compounds, like endorphins, that suppress the transmission of pain signals to the brain. People with non-functioning Nav1.7 do not feel pain and have increased expression of the genes in charge of making natural opioids.
The news story explains:
“An investigation of rat and mice nerve cells reveals the tug-of-war between Nav1.7’s pain-promoting and pain-relieving powers. Cells with nonfunctioning Nav1.7 have amped up activity in the cellular machinery that kicks off pain relief, Hucho and colleagues report. They suggest that Nav1.7 acts like the axis point in a playground seesaw. When the pain-promoting side is dialed down, the pain-relieving side becomes more dialed up than usual, and cells make more of their in-house opioids.”
This research suggests a new approach to pain management: using opiates in combination with a Nav1.7 blocker to make opiates more effective and reduce their associated side effects. However, a lot more research is needed before this work can be translated into treating people with chronic pain.
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
I would expect it to take all day for a snail to get across my backyard and its entire life to get around my neighborhood.
But according to a new study led by a researcher from the University of California, Berkeley, certain types of freshwater snails can travel distances of almost 30 miles, spreading a potentially deadly parasitic disease as they go.
“We don’t think of snails as particularly mobile, but the genetic evidence we found — that snails can traverse substantial distances — is a reminder of just how difficult it is to contain and control infectious diseases carried by animals and insects,” said Justin Remais, PhD, an associate professor of environmental health sciences at UC Berkeley and lead author of the study, in a recent news story.
These snails carry parasites that cause schistosomiasis — a disease that affects more than 200 million people worldwide, most of whom live in rural communities in developing countries. The parasites develop and multiply inside the infected snails, then enter the water and penetrate the skin of people who are swimming or bathing. Within several weeks, the parasites mature into adult worms that infect the body’s blood vessels, bladder and intestines.
The movement of one parasite-carrying snail can spread the disease to a new area. That’s why the multi-institutional research team studied snail migration in the rural region of Sichuan, China, where schistosomiasis incidence has increased in recent years. The researchers collected and analyzed the genetic makeup of over 800 snails from 29 sites in Sichuan, as recently reported in PLOS Neglected Tropical Diseases.
The study found that between 14 to 33 percent of sampled snails had recently migrated from another location, and some had traveled as far as 27 miles. How did these slow-moving animals get that far, when their average lifespan is only 171 days? Researchers discovered the shelled creatures can grab a ride on vegetation in waterways, cling to agricultural products such as rice, or get carried by birds or other animals.
The authors hope that an improved understanding of how and where these snails migrate will help others design better control measures to limit their movement and the spread of schistosomiasis.
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
Men with localized prostate cancer face good odds: Their relative five-year survival rate is nearly 100 percent. However, men with metastatic disease — prostate cancer that has spread to another organ like the lungs — have a relative five-year survival rate of only 29 percent.
Currently, the mainstay treatment for metastatic prostate cancer is hormone therapy, which uses drugs to lower the levels of male sex hormones like testosterone in the body to slow the growth of prostate cancer. Two of the latest hormonal agents, abiraterone acetate and enzalutamide, have shown some improvements in overall survival. Unfortunately, hormone therapy isn’t a cure and most patients become resistant to the drugs.
As an alternative, researchers are now investigating more targeted therapies, such as therapies that seek out prostate specific membrane antigen (PSMA). PSMA is present on the surface of nearly all prostate cancer cells as well as new blood vessels that supply nutrients to cancers, but PSMA is present on only a few healthy tissues in the body — making it an excellent potential target for drugs that selectively attack tumors while sparing healthy cells.
One such agent is PSMA-617 labeled with the radioactive element lutetium-177, which preferentially binds to PSMA on the surface of prostate cancer cells and delivers a toxic level of radiation to the disease sites.
A group of researchers recently investigated the safety and efficacy of lutetium-177-PSMA-617 for the treatment of metastatic prostate cancer. At 12 centers across Germany, a total of 145 patients, between 43 and 88 years in age, were treated with one to four cycles of the therapy. All the patients had metastatic drug-resistant prostate cancer that was continuing to progress. Receiving lutetium-177-PSMA-617 was their last therapeutic option.
As described in a paper appearing in the January issue of the Journal of Nuclear Medicine, the researchers found that 45 percent of the patients responded positively to lutetium-177-PSMA-617 following all therapy cycles, while 40 percent responded positively after a single cycle. Unfortunately, there were some adverse side effects, such as anemia and dry mouth, but these were considered to be manageable.
Other research groups are developing alternative PSMA targeted therapies, including researchers at Weill Cornell Cancer Center who are investigating a targeted radionuclide therapy called lutetium-177-J591.
So far the results have all been modest, but these PSMA targeted therapies may still have an important role in treating patients who are resistant to other drug therapies. Further studies are needed to determine the survival benefit of these treatments before they can be approved by the U.S. Food and Drug Administration for clinical use.
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
I don’t usually make New Year’s resolutions, but this year is the exception. My life has gotten too sedentary as a freelance writer who works at home. Like most Americans, I need to exercise more and eat healthier. It’s time to stop the holiday binge eating.
So I welcomed the good advice of Marily Oppezzo, PhD, a registered dietician and postdoctoral fellow at the Stanford Prevention Research Center, who specializes in helping people improve their health and well-being. In a recent Stanford BeWell article, she provides guidance to those hoping to make healthier lifestyle choices.
Oppezzo recommends that we stop classifying foods as sinful or good. “While some decisions are arguably healthier than others, we certainly don’t need to get our character and sense of self involved, a mind game that sets health up as binary, rather than a spectrum,” she says in the article. This all-or-nothing thinking, she argues, can result in binge eating — eating one “bad” cookie can lead to eating a whole bag, since you’re already “off the wagon.”
Instead, she says it is better to relish the taste of your favorite food without “pouring guilt all over it,” because you’re more likely to be satisfied and eat less of it.
If you make only one small dietary change, she suggests that you eat more vegetables. “Find one vegetable you love that is quick and easy for you to prepare and eat — and even defrosting frozen spinach to add to a soup or mixing in pre-packaged riced cauliflower … counts! Bring your veggie to work, and add [it] to three lunches next week,” says Oppezzo.
In terms of exercise, she said she thinks walking is particularly underrated. Walking can help your joints, improve your cognitive and creative thinking, reduce your stress level and provide a way to socialize with friends, she said.
However, it is important to be realistic when setting your health goals for this year — and tailor your plan to fit your personal likes and limitations. “In fact, it is important to weigh the factors of culture, individual circumstance, and motivational readiness when advising any (very young to very old) age segment of the population,” Oppezzo said.
And a parting word of wisdom? “’Everything in moderation’ turns out to be so true!,” Oppezzo said.
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
In a previous post, I described why I enrolled in a clinical trial at Stanford to treat my Hodgkin’s lymphoma. But I didn’t share the result: I received radiation therapy and chemotherapy — instead of the standard treatment of exploratory abdominal surgery — and I’m confident it helped me to be cancer free for the last 20 years.
However, my experience was unusual: Very few cancer patients participate in clinical trials and many aren’t even aware that they qualify for one. In order to advance cancer research, more participants are needed — especially ethnic and racial minorities who are vastly underrepresented in clinical trials. This is particularly important for diseases that occur more frequently or appear differently in non-white populations. For example, African American women have a 41 percent higher mortality rate for breast cancer than white woman, despite having a lower incidence rate, but only about 5 percent of clinical trial participants — for all diseases — are African American.
“A key way participants learn about our cancer clinical trials is through physician referrals,” said Rachel Mesia, community engagement manager at SCI. “Physicians and oncologists practicing at Stanford educate their patients about clinical trials. They also network with physicians from other health-care practices to prompt them to make referrals.”
Participants also find Stanford cancer clinical trials through SCI’s clinical trials information service, which directs callers to an English- or Spanish-speaking outreach specialist who provides general clinical trials information and links callers to study coordinators.
Similarly, Mesia said SCI’s website and mobile app make it easier for patients to locate clinical trials that match their medical conditions using patient-friendly word searches. The mobile app will be updated in January to add new features.
“I’ve heard from many sick patients that they don’t have the energy to constantly go onto a search engine to see if any new clinical trials have opened up,” said Sarah Pelta, SCI’s communications manager. “That’s why were putting push notifications into our mobile app, as well as the ability to sign up for email notifications. So patients can just receive an email when a trial opens up that matches their search parameters.”
Also key to successful recruitment is the inclusion of stories from past clinical trial participants to help make a human connection. “From our website analytics and from speaking to patients, we know that patients really want to see what other patients are experiencing. So we’ve added patient photographs and videos to our website,” Pelta said.
SCI tackles the challenge of minority recruitment by reaching out to particular communities, in part by distributing information at community health and cancer patient events, Mesia said. “We also partner on educational presentations with a variety of community organizations, such as cancer support groups, social service organizations and churches,” she said. “And we participate in some ethnic-specific media interviews, including television, radio and newspapers.”
In addition, SCI has interactive kiosks dispersed throughout their cancer centers that provide basic clinical trials information and a search tool — in English, Spanish, Chinese and Russian.
Over the last six years, SCI has also held a Cancer Clinical Trials Awareness Week event to further increase visibility. In April 2017, this will be expanded to a month-long event highlighting genomics, immunology and other targeted approaches to cancer. Everyone is invited, and they’re planning to make the talks available online to expand access, Mesia told me.
The SCI has adequate participation overall, but they are still struggling to recruit minorities. “Currently our greatest disparity lies amongst the African American population,” Mesia said. “We’re doing okay with African Americans who are existing cancer patients at Stanford, but there is an issue when we look at our catchment area as a whole.” One barrier is that fewer African Americans live near Stanford’s cancer centers, and those living in more distant Bay Area counties have significant commute challenges, she said. “The reality is that some people’s personal lives make it unfeasible to be part of a Stanford clinical trial.”
But that just means the SCI staff need to work even harder. “We need social and health equity for all populations who are getting cancer,” Mesia said.
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
When I was 29 years old, I was one of the healthiest people I knew. I biked 10 miles to work, played ultimate frisbee, slept at least eight hours each night and ate nutritious, organic food. And then I found an enlarged lymph node in my neck.
My life suddenly became a whirlwind of doctor appointments and diagnostic tests: chest X-rays, blood tests, CT scans, a lumbar puncture, lymph node biopsy and a lymphangiogram. The tests showed another enlarged lymph node near my heart, and I was diagnosed with stage IIA Hodgkin’s lymphoma.
Unbelievably, I had cancer. I was faced with scary medical decisions that could impact both my survival and fertility. How do you make those kinds of decisions? As a scientist, I immediately started researching Hodgkin’s and talking to medical experts.
According to my physician, the standard treatment for stage II Hodgkin’s entailed exploratory abdominal surgery in order to biopsy my organs and check for further signs of the disease, as well as removal of my spleen. This would be followed by radiation therapy to my chest and neck.
Most people choose the standard treatment — it’s the gold standard for a reason, right? However, I wasn’t convinced that I wanted the surgery, because my diagnostic tests showed no sign of the disease below my diaphragm. I didn’t want to unnecessarily lose my spleen, which plays a vital role in the immune system by filtering blood and fighting certain deadly bacteria.
Luckily, my physician recommended another treatment option: a Hodgkin’s clinical trial at the Stanford Cancer Institute. This phase III clinical trial was testing whether a specialized chemotherapy cocktail was more effective at treating stage II Hodgkin’s than the standard abdominal surgery, and the investigators’ previous clinical trials had shown excellent results with similar chemotherapies.
So I struggled with whether I wanted radiation therapy combined with exploratory surgery or chemotherapy — both were scary and both would have long-term side effects. However, it wasn’t really my decision. I could only decide whether or not to enroll in Stanford’s clinical trial, and then the treatment option would be randomly selected for me. Eventually I decided I could live with this lack of control, because both treatments were going to be effective.
People typically participate in a clinical trial to “advance medicine” or “improve the lives of others,” according to the Center for Information and Study on Clinical Research Participation. While I was happy to contribute to scientific research, I enrolled in the clinical trial for myself — to get the best care. I knew that other study participants came from across the world to Stanford since it was one of the premier places for Hodgkin’s treatment, and I lived just five miles away.
I was fortunate in many other ways as well; I had personal health insurance. I also had flexible hours as a research scientist and could work full-time during treatment, so I didn’t have financial worries. In addition, I was used to communicating with doctors as peers, so I didn’t fear being a ‘guinea pig.’
These types of barriers — limited access to trials, financial concerns and trust issues — prevent many people from participating in clinical trials. Nationwide, only about 3 percent of adults with cancer participate in clinical trials. As a result, about 40 percent of all oncology clinical trials fail to meet their minimum patient enrollment, which has a major impact on cancer research.
Researchers use many tactics to attract trial participants. In an upcoming post, I’ll share what I learned about Stanford’s efforts to boost the enrollment of minorities in its oncology clinical trials.
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
I’m a sensitive sleeper when it comes to snoring. When I visit my dad, his snoring — through walls and doors — keeps me awake. Pondering an upcoming holiday visit got me wondering: “Is that annoying snoring something to worry about?”
Snoring results from interrupted breathing during sleep. When someone’s upper airway repetitively collapses, vibrations from the soft palate and tongue can create the characteristic sound of snoring.
“Habitual snoring is a nuisance to bed partners,” said Stanford sleep surgeon Stanley Yung Liu, MD, DDS. “Many patients seek care because they’ve been asked to leave the bedroom and sleep on the living room couch.”
But snoring is often more than a nuisance. According to Liu, a patient should see a sleep specialist if snoring is accompanied by daytime complaints of sleepiness, headaches, or mood disturbances such as feeling anxious, irritable or depressed.
“Asleep patients are often unaware of breathing interruptions that have serious health risks,” Liu said. “Snoring is a warning sign of obstructive sleep apnea (OSA) — but not every snorer has sleep apnea, and not everyone with sleep apnea snores. Snoring and OSA can lead to serious health risks such as arrhythmia, high blood pressure, neurocognitive impairment and accidents due to sleepiness.”
While the bed partner is frequently the first to ‘diagnose’ snoring and OSA, the gold standard diagnostic test is an overnight sleep study called a polysomnography. Performed at a sleep lab or at home, the study can track sleep disturbances and loss of oxygenation due to breathing interruptions.
Treatment greatly varies depending on whether a patient’s snoring is associated with obstructive sleep apnea and at what level — none, mild, moderate or severe. Liu explained the main treatments options:
“CPAP (Continuous positive airway pressure) is used for patients with all levels of snoring and OSA. A patient wears a nasal, oral or full-face mask that delivers positive air pressure to the upper airway during sleep. This stents open the airway, and prevents snoring and airway collapse.
An oral appliance may be recommended for patients with snoring and mild OSA, when CPAP is not well tolerated. Nearly 40 percent of American patients are unable to use CPAP adequately. Worn like a night guard, the oral appliance pushes the lower jaw forward and stabilizes the airway.
Surgical solutions for snoring and OSA can also be highly effective. Contemporary treatment planning is patient specific with consideration of upper airway anatomy, disease severity and patient preference.”
Finally, Liu doesn’t want patients to get discouraged if one treatment option doesn’t work. He recommends going to a sleep center like Stanford, which has a comprehensive ‘playbook’ of solutions that can be individually adapted. “We can get folks sleeping on living room couches back into their bedrooms, and waking up feeling refreshed!”
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
If you’ve ever had an MRI scan, you know that it can be hard to lie still in the noisy, claustrophobic scanner. People often move involuntarily, requiring scientists to correct or eliminate the imaging data during movement.
Recently, a collaboration of Rutgers University and Columbia University researchers used this seemingly unhelpful data to further their understanding of a neurodevelopmental disease.
“We asked ourselves, ‘What could these involuntary movements, which researchers usually consider a nuisance, tell us about autism?’” Elizabeth Torres, PhD, an associate professor of cognitive psychology at Rutgers University, said in a news release.
The neuroscientists analyzed functional magnetic resonance imaging (fMRI) data for 1048 participants, aged 6 to 50 years old, including individuals with autism spectrum disorders and healthy controls. The data was publicly available primarily through the Autism Brain Imaging Data Exchange databases.
The researchers determined that people with autism had more problems controlling their head movements than healthy controls. They also found that motor control problems were exacerbated with the presence of secondary neuropsychiatric diagnoses, lower verbal and performance intelligence and autism severity, as reported in a recent paper in Scientific Reports.
“For the first time, we can demonstrate unambiguously that motor issues are core issues that need to be included in the diagnosis criteria for autism,” Torres said in the release.
In addition, they found that psychotropic medications, commonly used to treat people on the autism spectrum, were associated with lower levels of motor control. These medications include anti-convulsants and anti-depressants. Autistic people who were taking more than one psychotropic medication moved the most during the fMRIs, and their movement worsened over the scanning session.
The researchers conclude in their paper, “Nevertheless, it remains to be demonstrated if changes in head micro-movements directly capture targeted changes in symptomology brought about by a specific medication.” Their findings are also complicated by the simultaneous presence of autism and other diseases, such as attention deficit hyperactivity disorder. So more research is needed.
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
Genetic tests are now available for many conditions — everything from Alzheimer’s to familial hypercholesterolemia. But genetic testing isn’t necessarily the best option for everyone, and some of the tests aren’t highly accurate yet.
However, clinicians agree that genetic testing is important for people with hereditary heart conditions in their families. That’s why Stanford created the Stanford Center for Inherited Cardiovascular Disease, which specializes in caring for patients and their families with genetic disorders of the heart and blood vessels. Genetic counseling is a key part of the center, so I spoke with Colleen Caleshu, MSc, their lead genetic counselor to learn more.
What inspired you to become a genetic counselor?
“When I was in college, I was very interested in the science and molecular basis of disease. I was considering a PhD in genetics, but I was also drawn to peer counseling and psychology courses. When I looked at genetic counseling programs, they required an unusual combination of science and humanities such as psychology, ethics, genetics and biochemistry. Before going to graduate school, I spent a year with a research team that focuses on the psychological impact of familial breast cancer risk — that experience solidified that genetic counseling was what I wanted to do. For me, it comes down to a combination of loving the science and being intellectually challenged by a field that is moving really quickly, while also really being able to help people.”
What cardiovascular diseases does genetic testing identify?
“Genetic testing isn’t yet useful for all diseases or for all people. For cardiology, we recommend genetic testing when a patient is diagnosed with an inherited disease. The two most common inherited cardiac diseases are familial hypercholesterolemia and hypertrophic cardiomyopathy. We also care for patients with several other inherited heart muscle, arrhythmia and aorta diseases. If you put all of these genetic cardiac diseases together, greater than one in a 100 people have one in their genes.”
What is a typical genetic counseling appointment like?
“The clinic appointment is about an hour long. It involves establishing a relationship with the patient and their family to understand: Who are they? What are they experiencing? What are their values? What do they most need help with right now? Then we often shift to the medical side of things with a comprehensive four-generation family history. This involves a lot of detective work with the patient and afterwards — calling family members and searching medical records, death certificates and autopsy reports. The rest of the visit is a mixture of medical and genetics education, as well as psychological counseling. All medical conditions can have a psychological impact, but the genetic nature of these diseases mean they can strike healthy people at an unusually early age compared to most heart diseases. And they have reproductive and family planning implications.
Our genetic counselors also function within a broader, multidisciplinary team, including a cardiologist who gives his assessment, diagnosis and management recommendations. And all of this is based on a separate, hour-long intake appointment with a nurse that happens prior to the clinic appointment. “
How can genetic counseling help?
“Genetic counseling definitely benefits both the patient and the patient’s family — by helping them cope better with the familial heart condition and by helping healthy family members get the necessary medical workup and tests.
For example, a patient came to us a few years ago after being diagnosed with hypertrophic cardiomyopathy. Several generations of his family had the disease, and two of his siblings died suddenly from it a few years apart. He was really wrestling with whether or not to get an implanted defibrillator. He came to our center to get everything we offer.
We had several visits with him and his family members. At one point we had more than 10 family members in the room — the patient, siblings, nieces and nephews — grappling with a lot of pain and grief. We provided grief counseling and we addressed what it meant medically and psychologically for each family member. Using genetic testing, we were able to identify a disease-causing genetic variant in the original patient and his family. By proactively checking the heart of other family members, we were also able to diagnose people who didn’t know they had the disease — including members who went on to get implanted defibrillators to protect them from sudden death. Genetic counseling can absolutely save lives.”
This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.
Scientists Talk Funny 
