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Chronic Disease, Genetics, Health Disparities, Pediatrics, Research, Stanford News

Cystic fibrosis is deadlier for Hispanic patients, Stanford study finds

Cystic fibrosis is deadlier for Hispanic patients, Stanford study finds

Lungs-embroideryHow do physician-scientists select research projects? Sometimes, they’re prompted by the niggling feeling that something is not right.

That’s what happened to cystic fibrosis doctor MyMy Buu, MD, the lead author on a new paper that uncovers an important health disparity, a higher mortality rate for CF patients of Hispanic ethnicity. Buu, a pediatric pulmonologist who takes care of CF kids at Lucile Packard Children’s Hospital Stanford, launched the research because she noticed something worrying: It seemed to her that a lot of Hispanic children with CF were not doing well.

“…I didn’t know if this was just because we have more Hispanic patients in California, or if they were actually, really, sicker,” Buu said. CF is a genetic disease that causes serious breathing and digestive problems; Buu’s job is a mixture of trying to help her patients stay relatively healthy and dealing with complications of the disease.

“Because I’m interested in health disparities, I wanted to see if there were any differences in outcomes in the Hispanic group,” she said.

She turned to the Cystic Fibrosis Foundation‘s patient registry, focusing on 20 years of data that encompass every California child diagnosed with CF from the beginning of 1991 to the end of 2010. Of the children studied, Hispanic CF patients were almost three times as likely to die as their non-Hispanic counterparts.

Buu and her colleagues were able to use the data to eliminate several possible explanations for the disparity. Hispanic children were not being diagnosed later than non-Hispanic kids and did not have less access to health care, for instance. Our press release about the study describes the factors that may contribute to the disparity:

However, the researchers did find important clinical and social differences between the groups. At age 6, the earliest that lung function is routinely and reliably measured for patients with CF, Hispanic children with CF had worse lung function than non-Hispanic kids with the disease. The gap in lung function persisted as the children aged, although it did not widen. And although the same proportion of patients in both groups eventually developed CF complications, the complications struck Hispanic patients earlier in life. Hispanic patients lived in poorer neighborhoods and were more likely to be covered by public health insurance than their non-Hispanic counterparts.

The research also showed that, between the two groups, different mutations prevailed in the disease-causing gene, which is called the CF transmembrane conductance regulator gene. Hispanic patients tended to have rare and poorly characterized mutations in their CFTR gene, whereas non-Hispanic patients had more common mutations that have been more extensively researched.

The next steps, Buu said, are to make others aware of the increased risk for Hispanic CF patients and to figure out how the risk can be reduced.

Previously: Cystic fibrosis patient on her 20+ years of care, New Stanford-developed sweat test may aid in development of cystic fibrosis treatments and Film about twin sisters’ double lung transplants and battle against cystic fibrosis available online
Image by Hey Paul Studios

Chronic Disease, Pediatrics, Research

Earlier puberty linked with wide range of health conditions in study

Earlier puberty linked with wide range of health conditions in study

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

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

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

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

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

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

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

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

Chronic Disease, In the News, Pain, Research, Science, Stanford News

Scientific discovery could lead to treatments for chronic pancreatitis

Scientific discovery could lead to treatments for chronic pancreatitis

Pancreatitis is one of the most common gastrointestinal hospital admissions-related illness. Patients with the acute form of the disease show up at hospitals doubled over with severe abdominal pain, a swollen belly that’s tender to the touch, nausea, and vomiting.

For some patients the disease flares up then disappears. For others, it develops into an ongoing, chronic form of the disease with no known cure. Not only is it extremely painful, it also causes malnutrition and carries with it a high risk of leading to pancreatic cancer. Treatment options are pretty much limited to prescription pain killers.

This has great implication in a disease that has no active therapy with no known agents that can alter its natural devastating course

It’s known that chronic pancreatitis is marked by the uncontrolled growth of scar tissue in the pancreas known as fibrosis, which slowly destroys the organ’s ability to function. Since the pancreas is in charge of excreting enzymes to digest food, patients begin to suffer malnutrition. It’s also known that excessive alcohol consumption is the leading cause of pancreatitis but just what is happening at a molecular level to cause the fibrosis is less clear.

Now, Stanford researcher and gastroenterologist Aida Habtezion, MD, and colleagues here and at Cedars-Sinai Medical Center have published research that sheds light on what exactly is happening and could lead to treatments for the severe disease. In a story I wrote on the study, Habtezion discusses their discovery of a new molecular pathway that when blocked by an experimental pharmacological drug can slow the progression of pancreatitis in animal models and in human cells.

As Habtezion told me, her lab’s research into just how the immune cells of the pancreas behave when inflamed with pancreatitis unveiled the new pathway:

“For the first time we can show that macrophages interact with pancreatic stellate cells via a particular immune pathway, and by targeting this pathway we show a decrease in chronic pancreatitis/fibrosis progression,” she said. “This has great implication in a disease that has no active therapy with no known agents that can alter its natural devastating course.”

The hope is that researchers will now be able to develop a form of the experimental pharmacological agent used in the study to block the molecular pathway that can be given to humans. Blocking the pathway will block the scar tissue growth, and hopefully either slow the progression of the disease or reverse it altogether.

Chronic Disease, Parenting

Living with the uncertainty of NF

Living with the uncertainty of NF

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from Kate Duff of Massachusetts.

Silver LiningWhen our adult daughter Megan was about three years old, I noticed several bumps on the side of her head, and some brown spots on her belly. After meeting with her pediatrician, Megan had surgery to remove the bumps.

The week after the surgery, her surgeon called to say that what he removed were tumors and that Megan had neurofibromatosis (NF), and that we would be hearing from her pediatrician, and he hung up the phone. This was in 1987. There was no quick or easy way to look up information on NF, and never mind trying to research – I had NO idea what the surgeon even said.

Our pediatrician told us what NF was and that Megan most likely had this disorder, but she had never had a patient with NF. She gave us a Neurofibromatosis Northeast pamphlet that detailed what seemed to be a lot of scary things about the disease. We left the office overwhelmed and just couldn’t believe that our perfect little girl had this horrible disorder. We agonized about Megan’s future.

The next day, I called the number on the back of that flier. What I know now is that that was a lucky day for my family and me. The nonprofit organization Neurofibromatosis Northeast and its executive director, Karen Peluso, have saved my family and Megan many times over the last 28 years.

Although NF has brought us challenges, it has never been too serious or life threatening. Megan has had her share of surgeries to remove painful and disfiguring tumors, and she has dealt with learning disabilities that she has overcome to become a college graduate.

But in October 2013 all that changed. A week before her 30th birthday, I had to give Megan the news that she had aggressive breast cancer. We learned that people with NF have a four times greater risk of having breast cancer.

Megan has had a double mastectomy, reconstruction surgery, two rounds of chemo, and now doing radiation and a 3rd round of chemo. We have approached her breast cancer as we have approach her NF – by taking one day at a time – and living this way has truly helped her stay positive thru her treatments. Even with her NF, Megan has never asked, “Why me?” She handles all of this with amazing courage and grace. She is my hero.

Five years ago I met a group of mothers whose young children were recently diagnosed with NF. I wanted them to meet Megan to see how bright their children’s futures can be; I wanted them to know it’s not all gloom and doom.

If we can keep the doctors at the microscopes so they can find a cure for this horrible disorder, maybe we can make patients’ quality of life better and not so scary and uncertain. Research money is what will allow that to happen.

When Megan was first diagnosed, a dear friend said how sorry she was, and that she just couldn’t find a silver lining in all of this. But my friend was wrong. Through this journey with Megan and NF, we may not have seen it right away, but it was there: All the amazing, caring and generous people we’ve met along the way are the silver lining.

Kate Duff lives in Massachusetts with her family. For the past three decades, through Neurofibromatosis Northeast, Duff has helped raise money for NF research, and also support families affected by NF.

Photo by LadyDragonflyCC

Chronic Disease, In the News, Pediatrics, Research

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

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

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

university press release discussed what the researchers found:

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

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

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

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

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

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

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

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

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

Chronic Disease, Genetics, Patient Care

Navigating a rare genetic disorder with a positive attitude

Navigating a rare genetic disorder with a positive attitude

We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; this month’s column comes from Carla Charter.

roam-1024x1024Seven years ago, when my youngest child was diagnosed with chromosome 12q duplication syndrome, I learned that I too had the syndrome. It’s a rare condition caused by the abnormal duplication of the long arm of chromosome 12, leaving three copies rather two.

At that point the 12q was more of a footnote to my hectic life. Syndrome or not, life went on. There was work and the children and hundreds of other things to think about, none of which the 12q really affected.

The syndrome that hadn’t affected my life too much reared its ugly head two years ago while I was driving home one night. In an instant, a highway exit disappeared from view and came back, giving me an extreme “What the heck was that?” moment. Little did I know that this episode was about to usher me into the world of visual impairments. I now have forearm crutches to help me walk. My visual distance impairment changes are frequent, and I have slight hearing loss.

Because I’m an advocate for people with disabilities, some praise me as inspirational. But I am not inspirational. I am human. There are days when I feel frustrated, overwhelmed with the changes in my life, and even a little cranky. It’s OK to admit it, because I’ve got a family who loves me through all of it. If I seem a little quiet or snappy, you may be meeting me on an off day. We all have off days — disability or not.

Those of us with disabilities also have our own way of coping with them. For me, it’s humor. It’s the reason I had a bright pink cane for a time. If I was going to have to deal with using a cane because of the 12q, I was going to find the brightest prettiest cane I could find and rock the heck out of the 12q.

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Chronic Disease, Global Health, Medical Apps, Stanford News

Reporting and treating cholera: Soon, there could be an app for that

Reporting and treating cholera: Soon, there could be an app for that

8424972981_35858721c7_zIn the aftermath of the 7.0 magnitude earthquake that shook Haiti in January 2010, clean water for drinking and hygiene was scarce. This set the stage for the largest cholera outbreak in recent history, killing an estimated 6,631 people. Now that a devastating 7.8 magnitude earthquake has hit Nepal, a similar situation may be in the works. Eric Jorge Nelson, MD, PhD, a pediatrician and cholera expert, is working to change this scenario with a smartphone app that he and his team are developing for use in places at high-risk for cholera outbreaks.

Although disasters and cholera often go hand in hand, the disease is also a perennial problem in places like Bangladesh and Nepal, where monsoons routinely overflow sewers and contaminate water supplies, Nelson explained. In areas such as these, about 2.8 million cases of cholera occur each year.

Time is of the essence when reporting and treating cholera. “The time it takes from when a person ingests the bacterium [Vibrio cholerae], becomes sick with diarrhea, and dies can be less than 24 hours,” Nelson told me during a recent conversation. If untreated, as many as half of the people with cholera can die, but the mortality rate drops to less than one percent if treated in time.

Therein lies the rub, Nelson explained. Many cholera-stricken areas have limited access to electricity and the tools that disease experts and doctors need to rapidly report and respond to a cholera outbreak. “The reporting mechanisms are often six-weeks delayed,” Nelson said. “We need a way to help hospitals; they need an ongoing system to provide real-time data.”

To address this problem, Nelson and his colleagues are creating a smartphone app with the aid of a $1.25-million Early Independence Award from the National Institutes of Health. Their first goal is to develop and deliver the app to doctors working in hospitals in Bangladesh, where cholera is common.

The app is a series of four pages that prompt the doctor to collect data that helps them report, diagnose and treat patients with cholera. It also contains a checklist of “danger signs” that doctors may fail to notice; this list reminds him or her to look for other illnesses that could mask or mimic cholera.

Perhaps the best feature of the app is that it’s fast. “If English is your first language, you can get through the app in roughly 60 seconds. If English is your second language, it takes about two minutes,” Nelson told me.

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AHCJ15, Cancer, Chronic Disease, Events, Medicine and Society, Palliative Care, Patient Care

Looking at cancer as a chronic illness

Looking at cancer as a chronic illness

6903202302_d9740cc15b_zMany of us think of cancer as a terminal illness, but as treatments have become more sophisticated, more and more people are living longer with cancer. So is it becoming a chronic condition like rheumatoid arthritis or insulin-dependent diabetes? A panel at this past weekend’s Association of Health Care Journalism 2015 conference addressed this question, starting with a metaphor that has really lodged itself in my brain: the Niagara Falls approach.

After she was diagnosed with stage-four breast cancer and her oncologist asked her what she wanted to accomplish, Amy Berman, RN, a grantmaker and senior program officer at the John A. Hartford Foundation, replied,”I want to do ‘Niagara Falls.'” For Berman, Niagara Falls means continuing to live with as high a quality of life as possible, and then when such quality is no longer sustainable, dramatically dropping to the inevitable end point. By contrast, a different oncologist had announced to her that they should fight the thing full-force, do everything possible to beat it, including a double mastectomy and chemotherapy until her body could no longer handle the toxicity. Berman thought this would be an inverse Niagara Falls, dramatically reducing her quality of life and then dragging on to the inevitable end.

Berman, who is something of a cancer celebrity, has lived nearly 5 years post-diagnosis at 11-20 percent odds, and she has never been hospitalized. She was beaming during her panel. “I look good,” she said, as the chuckling audience caught her joie de vivre. “And I feel the way I look.”

Berman made the point was that “as our nation ages,” providers need to have serious discussions with patients, not shield them from the truth through rosier prognoses. We need to debunk the myth that palliative care means giving up or accepting a shorter life, she said – rather, it focuses on quality of life and what’s important to patients. It also shifts care from hospital to home, and in doing so saves money: Berman passed up an estimated $1 million in treatment over the past 4 years. “This is how we need to think about care,” she said. “Managing people to live well with serious illness… My cancer cannot be cured, but I’m also not dying today.”

George Sledge, MD, professor of oncology at Stanford, a member of the Stanford Cancer Institute, and a medical writer, is on the same page about palliative care. He said he considers it a success if his patients never go to the hospital. But that doesn’t mean he brushes off the ways in which cancer is different than truly chronic diseases.

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Big data, Chronic Disease, Public Health, Research

Finding asthma outbreaks using Twitter: How social media can improve disease detection

Finding asthma outbreaks using Twitter: How social media can improve disease detection

Asthma_inhaler_useWant to know if bad air has sparked an asthma epidemic in your neighborhood? Well, you’ll have to wait several weeks using traditional epidemiologic methods, a time lag that makes prompt response efforts quite tricky.

Or, perhaps you can just check out your Twitter feed.

A team led by Sudha Ram, PhD, at the University of Arizona found that a model that aggregates Twitter data, Google searches, air quality data and asthma-related emergency room visits can predict outbreaks with 70 percent precision. It’s big data in action.

As Ram comments in a press release:

The CDC gets reports of emergency department visits several weeks after the fact, and then they put out surveillance maps. With our new model, we can now do this in almost real time, so that’s an important public health surveillance implication.

With that information, hospitals could beef up their staff and health care workers could reach out to at-risk populations.

In the future, Ram said she plans to examine diseases with greater geographic and temporal variability such as chronic obstructive pulmonary disease (COPD) and diabetes. Her research was published in a special issue of the Institute of Electrical and Electronics Engineers Journal of Biomedical and Health Informatics.

Previously: Advice for young doctors: Embrace Twitter, Mining Twitter to identify cases of foodborne illness and Text messages about asthma could help children breathe easier 
Via MedCity News
Photo by Wikimedia

Cardiovascular Medicine, Chronic Disease, Patient Care, Stanford News

Monitoring heart failure from home

Monitoring heart failure from home

blood pressure readingSometimes, the best way to prevent a visit to the hospital is to become your own care provider. That’s the theory behind a new Stanford-led project that monitors heart-failure patients at home.

From an Inside Stanford Medicine story on the pilot program:

“There is abundant evidence in the literature that suggests home monitoring can improve patient outcomes,” said Rita Ghatak, PhD, director of Stanford’s Aging Adult Services, one of the sponsors of the program. “It can improve survival, days out of the hospital, quality of life and it provides an extra measure of psychosocial support.”

Project leaders teach heart-failure patients, such as 74-old-year Earl Shook, who is featured in the story, how to measure their blood pressure and oxygen saturation at home. Patients also receive visits from specially trained nurses. A nurse caught when Shook’s blood pressure was climbing too high and helped get him in to the cardiologist the next day.

Shook said it was hard to leave the hospital, but he was reassured by the home-monitoring program. “It let me know there was somebody still caring for me.”

Previously: Exercise may boost heart failure patients’ mental and physical health, Failing at prescribing the best heart-failure treatments and Home health-care treatments for lymphedema patients cut costs and improve care 
Photo by sriram bala

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