Penn Medicine News Blog Posts by Katie Delach

Katie Delach

Katie came to Penn Medicine with more than four years of experience working in media relations, communications and public relations for a variety of clients in technology and healthcare. In previous positions, she was responsible for content development, media and public relations strategy and outreach on behalf of clients including ForHealth Technologies, HP, and Intel. Her experience includes developing traditional, social media and grassroots campaigns, and conducting press outreach for product launches, thought leadership campaigns, and conferences. Katie received a Bachelor of Arts in Journalism from Pennsylvania State University, and a Master of Science in Public Relations from Boston University.

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Twenty Years Later: How Breast Cancer Risk Genes are Changing Patient Care

In the mid-1990s, scientists for the first time were able to isolate and clone the BRCA1 and BRCA2 genes, mutations in which were thought to increase susceptibility to early onset breast and ovarian cancers. A new Perspective published last week in Science takes a look back at the last twenty years to show how the identification of these genes set in motion a firestorm of research aimed at exploring how genetic information can be used to create both standards of care and strategies for all patients at a high-risk of developing cancer. Much has been learned over the last twenty years and now, Penn Medicine’s Basser Research Center for BRCA - the first and only comprehensive BRCA-focused center of its kind – is at the forefront of the next generation of research about genetics and cancer risk, methods for risk reduction and prevention, and new cancer treatment therapies.

Autosomal dominant diseases, as in the case of BRCA mutations, means you only need to get the abnormal gene from one parent in order for you to be at risk of inheriting the disease. “Affected,” in the context of BRCA mutations, means a patient is “at risk.” It does not necessarily mean a patient has been diagnosed with cancer. 

BRCA: Then and Now

Information gleaned over the last twenty years combined with new details about non-BRCA1/2 genetic variations is arming physicians and researchers with the tools to begin to developing models that will provide personalized care plans for BRCA1/2 mutation carriers based on genetic changes. Two decades ago, studies confirmed the association between BRCA1 and BRCA2 mutations and early-onset breast cancer and ovarian cancer. Since then, more than 1,800 distinct variants of BRCA1 and more than 2,000 of BRCA2 have been reported. Further studies revealed that not only are BRCA1/2 mutations hereditary, but some variations are also common among distinct populations. The best known example is in the Ashkenazi Jewish population, in which nearly three percent of individuals carry a mutated version of the gene. That means they have a 1 in 40 chance of carrying a BRCA1 or BRCA2 gene mutation -- a ten times greater probability than that of the non-Jewish population.  

“A woman’s risk of breast cancer is still very much tied to family history, but it’s not just about their mother or grandmother; it’s about their father and his family history, too, and the population groups an individual’s family belongs to,” said Katherine Nathanson, MD, associate professor of Medicine in the Division of Translational Medicine and Human Genetics, co-leader of the Cancer Prevention and Control Program at the Abramson Cancer Center, and a co-author on the new Perspective. “Twenty years of research has provided a lot more information about these risk factors which helps us to more effectively counsel patients about their own cancer risk and possible preventative strategies.”  

Today, BRCA1 mutation carriers are generally estimated to have a 57 percent chance of developing breast cancer and a 40 percent chance of developing ovarian cancer by age 70, whereas BRCA2 mutation carriers are estimated to have a 49 percent chance of breast cancer and an 18 percent chance of ovarian cancer.

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New Art Installation Illustrates DNA Repair and Celebrates Hope for Patients and Families Carrying BRCA Mutations

Penn Medicine's Basser Research Center for BRCA Unveils Homologous Hope Sculpture

Homologous hope_art4On Wednesday, the University of Pennsylvania’s Basser Research Center for BRCA  hosted a special event to formally unveil “Homologous Hope,” a new sculpture suspended from the glass atrium in the Perelman Center for Advanced Medicine. The large-scale piece was created especially for the Basser Research Center for BRCA by internationally renowned artist Mara G. Haseltine, and is positioned to greet visitors as they enter.

Created in a ribbon-diagram formation, the sculpture illustrates how a healthy cell repairs DNA that causes breast, ovarian and pancreatic cancers. It is an accurate depiction of the part of the BRCA2 gene that is responsible for DNA repair. The repair occurs in three stages, as illustrated by a light show within portions of the piece. The sculpture celebrates the hope that the establishment of the Basser Research Center is giving to countless families and their loved ones.

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Forget the Groundhog, Penn Medicine Health Screenings Show Spring is on the Way

PPMC volunteers with Bishop Grant of the Time for Healing Ministries

The weather outside might still be pretty frightful, but Penn Medicine faculty and staff have already started holding their annual health screenings and community health fairs, and that’s a sure-fire sign that spring is on the way!

This past weekend, a group of 16 volunteers from across a variety of departments and service lines at Penn Presbyterian Medical Center joined together at the Time for Healing Ministries (formerly the Highway Church of Christ) to offer free health screenings and education to members of the community. The gathering was one of the first of what is typically a very heavy season of community events and health fairs held throughout the city to raise awareness about routine health care and prevention.

“It was wonderful to see the children of our PPMC family so excited to participate in our community outreach event,” said Kevin Kates, BSN, RN, CEN, clinical nurse IV in the Emergency Department and  co-chair of the Nursing Shared Governance Leadership Council at PPMC. “Events like these make PPMC more than just a hospital, we are a family of caring individuals committed to the community which we serve. This was a great way to kick-off a new season of community health fairs.”

PPMC staff Nishaminy Kasbekar, PharmD, and Patty Baroni, RN, brought their daughters Kesar Kasbekar (left) and Katie Jane Baroni to join the festivities at Sunday's health screening

Nurses, doctors, pharmacists, and dieticians attended the event to provide local residents and members of the congregation with educational information on blood pressure screenings, early screening and prevention of colon cancer, warning signs of stroke, fall prevention and nutrition. The event was capped off with a performance from the congregation’s praise dancers, and a workout session for all attendees.

“Teamwork from all our volunteers made the day special,” said Susan Chodoff, director for Regulatory Affairs and Accreditation Compliance at PPMC. “We’re excited for the upcoming Philadelphia Science Festival, our annual Spring Into Health fair and all the other community events we’ll be taking part in over the next few months where we have the opportunity to engage with the local communities and spread a healthy message.” 

Knee-Deep in the 2014 Winter Olympics

Image courtesy of Alessando Trovati/AP

For six days, the world has watched, waited, and celebrated as their countries’ preeminent athletes have competed for medals, records, and ultimately a place in history among Olympic greats. The 2014 Winter Olympics in Sochi have unfolded with every bit of excitement and glory that one could expect from the world’s best. But while the spring-like temperatures that made for slushy halfpipes and treacherous downhill courses may have made some victories even sweeter, for others, they made the Olympic experience all too short.

As an avid fan of the Olympics, I’ve watched the Sochi games every night to see who would grab the gold. But I’ve also watched in horror as dreams have been lost in terrifying crash after crash. For example, the other night I watched as 18 of the 50 women competing in the women’s Super-G did not finish the course. In that particular event, where seven of the first eight competitors did not reach the bottom, gold-medal winner Anna Fenninger has been described as not having won “so much as she survived the slopes.”

While the athletes who did not finish are left with frustration and disappointment, for many others, the pain goes far deeper. Luckily, the extreme injuries have been few and far between; for many of the injured, Sochi has delivered low blows to the knees.

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To The Newly Insured: Now What?

Since the official launch of the Affordable Care Act in late 2013, millions of previously uninsured or underinsured Americans have selected plans affording them better access to health care. With all the controversy around the new legislation and questions surrounding the launch of the enrollment web site, little attention was paid to how the law would directly affect the millions of newly insured and their care providers. Now, across the nation, physicians and insurers are beginning to serve a patient population that looks, and in many ways behaves, different from the previous patient populations.

According to new data from PwC - a multinational professional services firm - it is estimated that by the end of June, there could be as many as 30 million newly-insured Americans, many of whom will be “less educated, more racially diverse, and more than twice as likely to speak a primary language other than English.” They will be young (median age 33) and many who report “feeling healthy” may not want to see a doctor, or may not understand the reason behind routine, preventative tests. Others who don’t “feel” healthy, may have only previously experienced medical care when a condition was bad enough to require emergency care. Either way, it’s highly likely that many of the newly insured will be seeing a primary care physician for the first time in a long time, which could mean an increase in previously undetected conditions or mental health issues.

As health systems work to increase preventative measures and reduce Emergency Department readmissions, and newly insured patients attempt to navigate the health care industry, the two sides intersect, creating a pool of questions for both patients and care providers alike. For patients, what do you need to share with a primary care doctor? What kind of tests should you expect? Should you even bother to see a primary care physician? And for health care providers, how do you create a relationship with these incredibly diverse populations? How do you get to know them and their health history?

While Penn Medicine has some programs that help vulnerable patients access the care they need, and others to help patients create and maintain health goals, resources are limited and these programs are not currently available to all patients, leaving some to navigate the system on their own.

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Ho-Ho-Holiday Round-Up

Throughout the year, Penn Medicine employees volunteer their time, money, and resources to help members of local communities, but outreach across the Health System always kicks into overdrive around the season of joy and giving, and 2013 was certainly no exception. Today, as many of us are at home surrounded by loved ones, celebrating “the most wonderful time of the year,” we pause to recognize just some of the programs our faculty and staff have committed themselves to this holiday season.

The following round-up is merely the tip of the Christmas tree when it comes to the generosity of our faculty and staff. Stay tuned to upcoming issues of all of our publications for more information on our holiday programs and events.

From our Penn Medicine family to yours, we hope you have a very safe and happy holiday.

Hospital of the University of Pennsylvania

Holly DaysHolly Days are Here Again

HUP’s Holly Days program is an annual tradition in which departments throughout the hospital “adopt” families from two local shelters which help women and children in transition. Participating departments buy toys, clothing, toiletries, and other items, fulfilling as much of the family’s wish list as possible. The 2013 Holly Days program was once again a rousing success, as HUP staff fulfilled the wish lists of 42 families.  Bikes, games and electronic games, dolls and doll houses, iPods, TVs, clothing, and gift cards were among the many contributions.  In addition, HUP staff generously donated more than $3,900 in gift cards for supermarkets, Walmart, Target, and other stores to the Covenant House, a shelter for teens in the Philadelphia community.

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Out of the Exam Room, and Into the Classroom

Penn Doctors Spend a Day in Their Patient’s Shoes

If a doctor applies a band-aid with a smile, does a wound heal faster? Maybe not, but in today’s changing health care landscape, health systems, physicians and insurance providers alike are placing more emphasis on patient satisfaction, and recent research suggests that it might not be safe to assume that a healthy patient is a happy patient. According to an article in a recent issue of AAOS Now, the journal of the American Academy of Orthopedic Surgeons, historically, physicians have focused on technique and objective outcomes as measures of ‘patient satisfaction,’ while patients have viewed their satisfaction as a reflection of the physician-patient relationship.

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Autumn Fiester, PhD, director of the Center for Clinical Ethics Mediation, leads a course for Penn faculty and staff on conflict-resolution

Now, in an effort to continue raising the bar on our quality of care and help faculty to refine their leadership and development skills, Penn Medicine’s Center for Clinical Ethics Mediation is providing courses aimed at arming clinicians with the skills necessary to facilitate conflict resolution at the bedside. In the health care setting, “conflict” can arise when there are miscommunications over a patient’s medication regimen, differing opinions regarding a course of treatment, cultural differences, etc. The courses offered through the Center for Clinical Ethics Mediation take faculty and staff out of the exam room and into the classroom where, through a series of role-playing exercises, they are able to experience firsthand what it’s like walking in their patients’ shoes.


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Could an Ounce of Prevention Actually Cause Harm?

Mehta & Stanton
David Stanton, MD, DMD, and Samir Mehta, MD, principal investigators on Penn Medicine's Bisphosphonate Biomarkers Trial
We’ve all seen the TV commercials in which a fabulous Hollywood-mom actress talks to us about the dangers of weakening bones, and the small pills or chewable capsules we can take to avoid common bone maladies as we get older. I admit, watching a modern day June Cleaver tell me about tiny chewable vanilla or strawberry delights that I can take with dinner to help ward off the dreaded osteoporosis and other conditions is definitely appealing. Who doesn’t want a fruit flavored gem that is also good for their bones? But for select individuals, these little tablets may actually be advancing the bone weakening process, encouraging certain orthopaedic and oral-maxillofacial bone injuries and disease. So the question then becomes, how do you know if taking these pills will help, or hurt?

A new study being conducted by a unique team of researchers from the Perelman School of Medicine at the University of Pennsylvania will attempt to identify genetic biomarkers that may play a role in how individuals digest the drugs, known as bisphosphonates. These prescription drugs are taken to help prevent bone loss by blocking the activity of cells that normally absorb bone. The most common examples are Boniva and Fosamax. The ultimate goal of the study – being led by a rare collaboration between researchers from Orthopaedics and Oral-Maxillofacial Surgery – is to identify which patients might be genetically predisposed to severe, negative responses associated with these drugs.

Among the many thousands of individuals who currently take these medications, certain individuals experience unusual leg fractures, osteonecrosis of the jaw – a condition causing the jawbone to become exposed, which requires surgical treatment – or even esophageal cancer. The unfortunate truth is that right now, doctors have no way of knowing which patients will have these unexpected adverse affects.

While genetic biomarkers have been used in cancer and cardiac treatment strategies, their use in Orthopaedic surgery has been limited as many of the conditions treated in Orthopaedics are considered mechanical disease, like arthritis where the cartilage wears away.  The use of biomarkers may lead to a better understanding of why certain patients develop diseases like arthritis and how they can be helped earlier in life.

“Studies that aim to identify genetic biomarkers for orthopaedic and oral-maxillofacial conditions are rare, but we need to find a way of determining who should be taking these drugs, and who will be at risk of secondary injury and disease,” said Samir Mehta, MD, chief of Orthopaedic Trauma and Fracture Service at Penn Medicine and principal investigator on the study. “Bisphosphonates have a proven track record of benefiting thousands of patients, so we’re not trying to discourage their use. In fact, we want to be able to prescribe them for patients who are experiencing bone loss, but we need to be able to do so with the confidence that we’re not causing further injury, or putting those patients at risk.”


Doctors search for new ways to solve the puzzle of a rare bone cancer


Zach sobiech
Zach Sobiech (Image courtesy of YouTube)
Recently, the world watched as 18-year-old Zach Sobiech transformed from a high school student living with cancer, to a rock star, living his dream of recording music and embracing his final days with friends and family. Zach lost his battle to a rare form of cancer on May 20, 2013, but his hit song “Clouds” and story of never-ending hope, courage and conviction went viral and is now helping to raise awareness about a rare and devastating disease.

Osteosarcoma. It’s a million dollar word that many may never know. When we think about cancer, perhaps the words that come to mind most immediately are “lung,” “breast,” “prostate,” or “pancreas.”  What we may not think about is our bones.

Perhaps because our bones are hard and don’t change
Osteosarcoma cells. (Image courtesy of Nephron, via Wikimedia Commons)
shape, many may not think of them as being alive, but they are. Our bones are more than just a part of our skeleton making up our arms and legs; they are living tissue, comprised of living cells. These cells are responsible for controlling the amount of minerals we store and forming the connective tissues that give our bones strength. Like other parts of our bodies, the living cells in our bones are also susceptible to cancer. Roughly 800 new cases of osteosarcoma – the most common type of bone cancer – are diagnosed each year. Nearly half of those new cases are found in children and teens.

Like Zach, who was diagnosed with cancer at age 14, most osteosarcomas occur in children and young adults between the ages of 10 and 30. Though great advances have been made in the treatment of osteosarcoma over the last several decades, national efforts are underway to learn more about effective treatment for the disease.

In this post, I sit down with Kristy L. Weber, MD, Penn Medicine’s new chief of Orthopaedic Oncology and director of the Sarcoma Program at the Abramson Cancer Center, to learn about the latest advances in treating osteosarcoma and where research for this rare disease is headed.

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Wining and Dining for Women’s Health

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From left: Janet Rocchio, RN, MBA, Danielle Burkland, MD, Catherine Salva, MD, and Celeste Durnwald, MD, attend last week's first annual Wine and Dine for Women's Health event
On Tuesday, April 9, local residents, sponsors, and 16 of Philadelphia’s best-known restaurants joined forces in the city’s first ever Wine and Dine for Women’s Health event, hosted by Penn Medicine’s Women’s Health Leadership Council. Proceeds from the event will support patient programs at the Helen O. Dickens Center for Women’s Health and the Hospital of the University of Pennsylvania that are critical to the health and well being of underserved women in the West Philadelphia community.

For over 40 years the Center has served generations of women living in the West Philadelphia community. In 1999, the Center was named for Dr. Helen O. Dickens, a remarkable woman and a pioneer who spent her career in academic medicine seeking to find ways to improve the lives of low-income women and their families. Dr. Dickens practiced obstetrics and gynecology in Philadelphia for over 50 years, joining the faculty at the University of Pennsylvania in the late 1960s. In 1967 she established one of the first multidisciplinary Obstetrical Programs in the United States for teen mothers. She was a life-long advocate for women’s health especially among the underserved, the youth, the vulnerable, and minorities in Philadelphia.

“Low income women often believe they must choose between feeding their families and paying for medical care that they personally need to help prevent and/or address health issues,” said C. Neill Epperson, MD, director of the Penn Center for Women's Behavioral Wellness. “Recognizing the unique balance between the physical and psychosocial well being of underserved women, the Helen O. Dickens Center for Women’s Health is providing access to comprehensive healthcare for these women throughout their lifespan. This Center is a great example of Penn Medicine’s dedication to helping improve the lives of women and their families who live within the local community.”

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Focusing Attention on Heart Health: Good News for Adults Taking ADHD Medication

To celebrate February as American Heart Month, the News Blog is highlighting some of the latest heart-centric news and stories from all areas of Penn Medicine.

Heart-pills1Research studies have shown that medications commonly used to treat attention deficit hyperactivity disorder – such as Adderall, Dexedrine and Ritalin – have a modest effect on blood pressure and heart rate, leading to concern amongst the medical community and the public at large about the potential cardiovascular risks associated with using these drugs. Now, a new study from researchers at the Perelman School of Medicine at the University of Pennsylvania is helping to shed some light on the cardiovascular safety for adults using these common medications.

Using data from Medicaid and the HealthCore Integrated Research Database, Penn Medicine researchers compared the incidence rates of serious cardiovascular events in adults taking ADHD medications to rates in non-users. Incidents of interest were sudden cardiac death or ventricular arrhythmia, stroke, or heart attack.

Although ADHD medication users identified in the study were more likely to have pre-existing cardiovascular or psychiatric disorders, the study ultimately showed that adults using medication to treat ADHD were no more likely to suffer a serious cardiac event than non-users.

“It is reassuring that there’s a growing body of evidence showing no association between using these mediations and serious cardiovascular events,” said says Sean Hennessy, PharmD, PhD, associate professor of Epidemiology, and director of the Center for Pharmacoepidemiology Research and Training at Penn Medicine. “These new data provide further support that cardiovascular events are no more common in users of ADHD medications than in non-users," "The study expands upon previous and similar findings in studies that have focused specifically on cardiovascular health in kids using ADHD medications.”

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A New Venue for Healing: Out of the Hospital and Onto the Stage

The HealingLater this week, a cast of 15 local actors and actresses will take to the stage at The Playground @ The Adrienne Theater in Center City to share a story of one woman’s journey through life, and cancer. The Healing, billed as “a story of love, fame, hurt, and healing”, was written by Ontaria Wilson, physician secretary in the department of Radiation Oncology, based on her own experiences working directly with Radiation Oncology physicians and patients living “through” – not “with,” Wilson notes – cancer treatment.

The play tells the story of a woman in her 30s who is working as an up-and-coming actress when she is diagnosed with cancer. Wilson says inspiration for the story came from watching the “organic chemistry” she witnesses between patients and their clinical care teams on a daily basis. Focusing mainly on patient interactions with care teams, Wilson says everything in the show was born of a personal experience – either with a patient at Penn Medicine or as part of her father’s support system when he went through chemotherapy after being diagnosed with leukemia in 2006. The main character is loosely based on a former Penn Medicine patient with whom Wilson formed a bond, but Wilson says she hopes audiences will take from the play something much bigger than just the story of a woman living through cancer.

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Giving New Life to Dead Bones

Scott Tintle, MD, fellow in the department of Orthopaedic Surgery, examines patient Adam Segal's progress at a recent follow-up appointment
According to the Agency for Healthcare Research and Quality, more than 285,000 total hip replacements are performed each year in the United States. Since 1960, improvements in joint replacement techniques have greatly increased the effectiveness of total hip replacement, allowing adults suffering from chronic arthritis to get back to their daily lives without pain in as little as six weeks. While most artificial hip joints in use today will last 10-20 years, like all devices, the artificial hip joint – which replaces the natural hip bone with a metal ball and resurfaces the hip socket with a metal shell and plastic liner – wears out over time. For younger patients, this means a second surgery (and maybe even a third) will be required to replace the artificial joint. Fortunately, a rare procedure now being offered by specialists at Penn Medicine provides a long-term alternative for younger patients with chronic hip pain.

For 26-year-old Adam Segal, a Penn Medicine patient who started experiencing pain in his hip in the spring of 2011, a temporary fix that would wear out over time was no solution at all. Segal was approaching his final days as a law school student when he first started to feel pain in his hip. With the Bar exam just months away, he pushed the pain out of his mind and focused on his studies. Some time later, as the pain got worse and walking become onerous, Segal sought help from an orthopaedic specialist.

X-rays and an MRI confirmed Segal was suffering from bilateral osteonecrosis, also known as avascular necrosis (AVN) – a condition that occurs when bones lose their blood supply. When translated, “osteonecrosis” means “bone death.” Over time, the condition leads to severe pain and arthritis. “By the time I saw a specialist, I was walking with a limp,” he said. “My MRI showed the necrosis in both of my hips had advanced beyond the point where the typical theraputic procedures would help, so I started looking into my options. I didn’t want to get artificial joints that would wear out in 15 or 20 years, but my options were limited. Then, I heard about FVFG.”

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Collaboration Does a Body Good

Vitruvian-manDuring the first Presidential debate of the 2012 election season earlier this week, President Barack Obama and his challenger Mitt Romney went to the mat to discuss – among other topics – the future of health care in the United States. Though the two have opposing views on how to reform and improve the way health care is delivered in the United States, they did agree that there is a need for streamlined care in order to help reduce costs and readmission rates.

One approach President Obama highlighted was collaboration between doctors. Instead of individual doctors ordering tests, Obama noted the benefits of a team approach, where doctors from multiple specialties meet to confer on each patient’s care. The collaborative approach, he said, helps prevent duplication of services, and provides preventive care.

Also earlier this week, the federal government began its new system for financially penalizing hospitals when too many patients are readmitted within a month of being discharged. Currently, nearly 20 percent of Medicare patients are readmitted within a month, which the government considers a prime symptom of an overly expensive and uncoordinated system.

Recognizing the need for integrated, one-stop-shop care, Penn Medicine has for years focused on implementing programs and facilities that are designed to promote inter-departmental planning and consultation. In fact, the Perelman Center for Advanced Medicine, which opened in 2008, was designed specifically to promote this type of care delivery. Last week, Penn Medicine took another step toward offering comprehensive care in one location when it broke ground on the Penn Center for Specialty Care (PCSC), a new 272,200 square-foot 11-story tower in University City at Market and 38th Streets that will provide patients with seamless care for same-day specialty consultations with a range of medical specialists.

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Blinded by the Light

One man’s refusal to let choroideremia slow him down

Image courtesy of E.J. Scott
Earlier this year, the world paused to watch its greatest athletes take center stage and compete for the gold in the Games of the XXX Olympiad. The United States’ Michael Phelps became the most decorated Olympian in history, and the U.S. women’s gymnastics team became America’s newest sweethearts, seemingly overnight. For two weeks, millions around the world watched as athletes gave it their all for a chance at glory.

One event that we didn’t get to watch, though, was perhaps even more inspirational than Michael Phelps’ 21st medal. What we haven’t heard Bob Costas talk about is Penn Medicine patient 36-year-old E.J. Scott, who is dedicating 2012 to an epic battle against a hereditary disease that is slowly taking his sight. This year, E.J. is taking on 12 marathons, in 12 states, in 12 months -- and he’s running every one blindfolded. Though the self-described “non-runner” won’t be winning any medals, E.J. hopes that by running the marathons, he can inspire people to donate funds in support of research at the Perelman School of Medicine at the University of Pennsylvania that is making strides toward finding a cure for his rare condition. He is running against the clock, in hopes of finding a cure for the condition that also afflicts his brother and young nephew.

For most people, standard peripheral vision allows for a Field of View (FOV) of approximately 180 degrees. In 2003, doctors told E.J. that his peripheral vision was only 70 degrees in each eye. He was ultimately diagnosed with choroideremia – a rare genetic disorder that causes a progressive loss of vision. Now, just nine years later, E.J. is legally blind and has less than 15 degrees of sight in each eye. Though he is already legally blind, E.J. wears blindfolds and relies on the help of experienced guides  when running to help preserve the vision he has left as the harmful rays of the sun threaten to exacerbate his condition.

Though scientists have identified nearly 200 genes that play a role in vision loss due to degeneration of the retina, choroideremia is caused by variations specifically in the CHM gene. The disease – which occurs almost exclusively in males – typically begins with night blindness experienced in childhood, and progresses as “tunnel vision” – an irregular darkened ring that gradually expands over time, ultimately leading to a complete loss of vision. Progression of the disease continues throughout an individual's life. While there is no cure or treatment for choroideremia, researchers at the Penn Medicine are optimistic about treatments currently in development.

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Penn Medicine Takes a Leading Role in Training Nurses; Receives $36 Million Grant

Nurse image

According to a recent New York Times article, the Association of American Medical Colleges estimates that in 2015 the country will have 62,900 fewer doctors than needed. By 2025, the gap is expected to double as the expansion of insurance coverage and the aging of baby boomers drive up demand for health care.

While patients will still receive care in the face of a doctor shortage, there is some concern that the process will become slower and more difficult. Looking toward the future and anticipating potential repercussions of a doctor shortage, some government agencies and officials are hoping nurses will be able to help fill the gaps. Despite a recent economic downturn which has negatively impacted many industries, job opportunities for nurses remain strong. In a recent article in ADVANCE for Nurses, Rhonda M. Zaleski, MS, RN, CHPN, corporate director, nurse recruitment and workforce planning at Penn Medicine, said that nurses with BSNs and those advancing their education are especially in demand.

Recognizing this need, on Monday the Department of Health and Human Services (HHS) announced that the Hospital of the University of Pennsylvania, along with four other hospitals across the nation, has been selected to participate in an initiative to train additional advanced-practice registered nurses (APRN). Nurses with this designation generally have post-graduate training and are able to diagnose illnesses, prescribe medication and treatment regimens, and perform procedures consistent with their scope of practice.

The HHS Graduate Nurse Education Demonstration, funded under the Affordable Care Act, aims to strengthen the nation’s primary care work force by placing more APRNs in practice and thereby increasing the ranks of primary and preventive caregivers to help fill gaps in non-hospital community-based settings, including in underserved areas.

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Joint Penn Medicine and CHOP Program Helps Patients Bridge the Gap from Childhood to Adulthood

BridgingthegapWhen you turn 18, life can change overnight. At 18, you can apply for a credit card, register to vote, and sign your own legal documents asserting that you are officially an adult in charge of your own care. It might even be time to head off to college, or enlist in the military. But turning 18 also means it’s time to leave behind the only doctor you may have ever known – your pediatrician – and find a new adult doctor. During your visits you might be expected to know information about insurance coverage, your family’s medical history, or your previous vaccinations – it’s a process which can be confusing even for the healthiest of patients. But for the patients who rely heavily on their care teams for continued treatment and assistance with chronic diseases, the transition from pediatric to adult care can be downright overwhelming.

Easing the transition from pediatric to adult care for adolescents with chronic gastrointestinal diseases and disorders is the main goal behind the unique CHOP-Penn Transition Program and Center for Digestive, Liver and Pancreatic Medicine. Co-founded by doctors at both Penn Medicine and the Children’s Hospital of Philadelphia (CHOP), the program aims to provide adolescent patients with personalized support, educational tools and guidance that empowers them to take control of their care with confidence.

“Research shows that there’s a lapse in health care for patients right around 18-years-old,” said Anil Rustgi, MD, chief of Gastroenterology at the Perelman School of Medicine at the University of Pennsylvania. “What we hope to do for patients by providing personal guidance is to create a seamless transition from their pediatric to adult gastroenterologist.”

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Taking a Broad Look at Cancer

Penn Researchers Encourage Local Participation in Nationwide Cancer Study

Credit: Photo by G. Widman for GPTMC

This Sunday, more than 30,000 runners from around the world will gather in the athletic field at Philadelphia’s Central High School to take part in the 32nd annual Blue Cross Broad Street Run, one of the largest ten-mile road races in the United States. This year, the event that takes participants on a course past the varied neighborhoods of Philadelphia will also jump start the enrollment process for a new nationwide cancer prevention study (CPS).  In partnership with the American Cancer Society, representatives from Independence Blue Cross and the City of Philadelphia are encouraging all eligible race participants, friends and family to enroll in the study, which aims to help researchers better understand the factors that cause cancer.

 The project, Cancer Prevention Study 3 (CPS 3), will examine the health and wellness of 300,000 individuals across the country from different backgrounds, ethnicities and geographic locations. The third study of its kind, CPS 3 is expected to provide researchers with valuable insight into the genetic, environmental, and lifestyle factors that cause or prevent cancer.

“There are a lot of factors that change over time, so we can’t assume that what we knew 20 years ago is the same today,” said Anil Rustgi, MD, chief of Gastroenterology at the Perelman School of Medicine. “Our environment and lifestyles have changed dramatically in recent decades, and it’s important to understand the role that these changes might play in cancer development.”

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Bridging the Gap in Cancer Care: Penn Congratulates Oncology Nurses in Tanzania, the First Graduates of the OncoLink Cancer Nurse Education Program

On March 27, 2012, 20 nurses from the Ocean Road Cancer Institute (ORCI) in Tanzania graduated from the first ever OncoLink Cancer Nurse Education Program, a pilot program started in February 2011 that aims to provide oncology nursing training in via e-learning courses. The program was created by oncology nursing experts at OncoLink®, a free cancer information website developed by experts at the University of Pennsylvania's Abramson Cancer Center.


Tanzania graduates
The first graduating class from the OncoLink Cancer Nurse Education Program

With a population of nearly 40 million, Tanzania lies on the east coast of Africa between Kenya and Mozambique. The country sees roughly 21,000 newly registered cancer cases annually, of which more than half result in death. Located in the main coastal city of Dar es Salaam, ORCI is the only specialized center for cancer treatment in Tanzania. It provides both diagnostic and treatment services for cancer patients from all regions in Tanzania as well as other eastern and southern African countries. Of the 21,000 new cancer cases each year, only 10 percent reach ORCI. Of these, 75 percent to 80 percent are already in advanced stages, and, at the rate the number of cancer cases is increasing, cancer will likely be the dominant health issue in Africa for decades to come.

“We first learned about the cancer population in Tanzania and the ORCI at the African Organization for research and Training in Cancer’s (AORTIC) International Cancer Conference,” said James Metz, MD, associate professor and vice chair of clinical operations in the department of Radiation Oncology at the Perelman School of Medicine, who serves as editor-in-chief of OncoLink. “As we learned more about ORCI, we realized that there was this huge patient population, but the health care providers had this major dichotomy in the resources available. The nurses, for example, are an incredibly passionate group of people who are dedicated to their professions, but the education in oncology was almost non-existent. Additionally, though the ORCI had relationships with various organizations and received much of their technology from donations, they were lacking some of the most basic elements to provide quality care.”

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Genomic Study May Help Halt Rising Health Care Spending

BdnaIn 1962, health care expenditures made up just five percent of the nation’s gross domestic product. Fifty years later, those figures have more than tripled, with the expenses now making up 17 percent of the GDP – the highest rate of spending growth of any developed country in the world. In the face of that ballooning spending, Katrina Armstrong, MD, MSCE, chief of the division of General Internal Medicine at the Perelman School of Medicine at the University of Pennsylvania, suspects that the fast-growing field of genomics may be a source of meaningful cost savings.

Genomics is the study and testing of one person’s genes, as well as the interactions between those genes and with the subject’s environment. According to the Centers for Disease Control, genetic tests have been developed for more than 2,200 diseases, of which about 2,000 are now available for use in clinical settings.

Writing in the March 14 issue of the Journal of the American Medical Association (JAMA), Armstrong notes that despite being a new technology – and therefore often associated with higher health care costs – genomics can also be used to identify individuals who will show little or no benefit from a medical intervention, possibly because they have a low risk of suffering harm without the intervention, or because they will not benefit from the intervention. In either case, genetic testing could reduce the use of treatments that are unnecessarily expensive or that are unlikely to yield a benefit. The result is an overall cost reduction.

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Baby Boomers Feel the “Kneed” for Speed

Knee2Total knee replacements have been an option for elderly patients with debilitating pain since the 1960s, but it was only recently that the procedure started being a cost-effective and realistic treatment option for younger patients who suffer from obesity, or who just want to maintain an increasingly active lifestyle. New research indicates that in recent years orthopaedic surgeons have seen a dramatic surge in the number of Baby Boomers suffering from rheumatoid arthritis, osteoarthritis, or injury to the joint – often resulting from increased activities such as marathon running, swimming, or even power walking. According to the federal Agency for Healthcare Research and Quality, knee replacements nearly tripled in people ages 45 to 64 between 1997 and 2009. Though still less common in younger patients, current estimates suggest that more than half a million Americans in their 50s have had the procedure. Based on current trends, operations in that age group are expected to increase.

“People are more active than ever before, and they don’t want to slow down or give up doing what they love because of pain in their joints,” said Craig Israelite, MD, orthopaedic surgeon at Penn Presbyterian Medical Center. “Our latest research is showing that with new materials and less invasive procedures, we can help younger patients stay active longer.”

With a growing trend of people opting for knee replacement surgery earlier in life, there is some fear of what that could mean for long-term complications. Research shows that patients with artificial knees can experience infections and other complications that eventually require additional treatment. And, artificial knees can wear out over time, some in as few as 15 years. As the trend continues and younger, more active patients receive artificial knees, there is an added concern that high-impact sports such as jogging will have a bigger impact on the joint than what was previously seen in older generations. The question, then, is: how many of these young will eventually need a second or third replacement?

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Multi-Organ Transplantation Gives Hope for Patients with Complex Heart-Liver Disorders

To celebrate February as American Heart Month, the News Blog is highlighting some of the latest heart-centric news and stories from all parts of Penn Medicine.

Pochettino_Alberto_2Due to the complex, interdependent nature of the human body’s internal organs, transplant specialists are constantly working to develop new procedures for disorders that extend beyond a single organ. Increasing success with single solid-organ transplantation over the last 50 years has helped propel the field into the more complicated realm of multi-organ transplantation. The first dual-organ transplant, which provided a 6-year-old Texas girl with a new heart and liver, took place on Valentine’s Day in 1984, but just over 100 heart-liver transplants have been performed in the nearly three decades since. Penn Medicine transplant physicians are at the forefront of this work, performing 19 of these combination transplants since 2002 – the second largest number of any transplant center in the U.S., most of whom have only done one or two of the procedures.

For patients with rare and debilitating conditions, simpler options are often limited – dual-transplantation can be the difference between life and death.

According to Alberto Pochettino, MD, associate professor of Cardiothoracic Surgery and director of the Lung Transplant Program and co-surgical director of the Adult Congenital Heart Disease Program at Penn Medicine, most patients who are considered for the dual heart-liver procedure are in their 20s or 30s and were born with a cardiac defect in which one of the two ventricles in the heart is normal, while the other is extremely small or absent entirely. Several conditions can lead to this malformation, the most common of which is Hypoplastic Left Heart Syndrome (HLHS), in which parts of the left side of the heart fail to develop completely. HLHS affects two of every 10,000 children born – about 7 to 9 percent of all congenital heart defects – but without proper care and immediate attention, the condition is fatal.

With only one normal ventricle, surgeons typically perform an early surgery that changes an HLHS patient’s blood circulation so they become dependent on the one normal ventricle. Blood that would usually be delivered to the lungs through the absent ventricle can be rerouted so that the lungs receive blood passively, without the assistance of a ventricle to pump blood into the lungs.

Patients can live with this passive circulation for years and years, but in order to have passive flow to the lungs, they often have slightly elevated pressure to get the blood down to the lungs. When that pressure remains elevated over the course of 20 years or so, the liver can suffer irreversible damage, resulting in advanced liver disease. 

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Navigating the Way to a Healthy Colon: How Septa Tokens and Crystal Light Can Help Save Lives

For many people, feeling healthy is reason enough to put off scheduling a preventive exam, even when it’s doctors orders. For others, a busy schedule often gets in the way and there’s just no time. Still other patients put off exams because of cultural and socioeconomic barriers. Some patients, for example, experience financial constraints, language barriers, transportation needs, conflicts with work, and child or elder care demands that make it difficult or impossible to follow through the process of having a screening test. Regardless of the reasons for putting them off, screening tests are vital to everyday health and can prevent sickness or even death.

“Colorectal Cancer Screening (CRCS) has been proven to be an effective means for CRC control and prevention, yet CRC screening rates remain poor. Despite being preventable, CRC continues to kill a disproportionate number of African Americans each year,” said Carmen Guerra MD, MSCE, associate professor in the Department of Medicine at the Hospital of the University of Pennsylvania. “When we have the means to prevent just about every case of colorectal cancer through screening colonoscopy, these deaths are senseless and the racial disparity is a social injustice.  Each one of those cases is a painful case of cancer for someone's husband, wife, mother, father, son, or daughter.”











Carmen E. Guerra MD, MSCE, Michael L. Kochman, MD, FACP, Alicia Lamanna, Medical Assistant and patient liaison for the program and Josh Ramos, a Penn junior who was awarded a grant to work on the navigation project.

Together with the Wilmott Professor of Medicine, Michael Kochman, MD, FACP, Guerra is launching Penn Medicine and the Abramson Cancer Center’s West Philadelphia Gastrointestinal (GI) Health Outreach and Access Program, a patient navigation program that aims to improve the colorectal cancer screening rates for the residents of West Philadelphia by providing guidance and assistance every step of the way. They’ll help patients better understand the preparation process that comes before the screening, and provide assistance for transportation to and from the procedure, and financial assistance covering the costs. A patient navigator is a trained health care professional who works on behalf of the patient to identify and overcome potential barriers to obtaining a screening test. Patient navigators guide patients through the health care system to ensure completion of the screening test, and make sure that patients receive information that is matched to their level of health literacy. Originally developed to address racial and socioeconomic disparities in breast cancer outcomes, studies demonstrate that patient navigation programs can successfully increase colonoscopy screening rates among urban minorities. Other studies show that patients who receive navigation services report greater patient satisfaction.

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Missed Opportunities: College Websites Should Provide A Health Care Information Safety Net for Students

In today’s world where many of us often share our most personal and private information online, status messages and photos posted on Facebook and other social media websites are providing health care professionals with an access point to identifying individuals at-risk of causing harm to themselves and others. One recent study from the University of Wisconsin, for example, shows how verbal and visual clues taken from Facebook profiles, such as references to drunkenness, can help health care professionals identify college students who are at risk of developing alcohol abuse problems. Now, a study from the University of Pennsylvania’s Perelman School of Medicine is providing a different twist on how using the Internet can make a difference in the health and well-being of college students.

The new study, published in this month’s issue of Preventing Chronic Disease, examines the websites of 426 colleges, including both small and large, 2- and 4-year institutions, in an effort to characterize how colleges use their web sites to educate about and promote health. The study conducted by J. Jane S. Jue, MD, MSc, a former Robert Wood Johnson Foundation Clinical Scholar at Penn and Joshua P. Metlay, MD, PhD, a professor in the division of General Internal Medicine at the University of Pennsylvania’s Perelman School of Medicine, suggests that many colleges and universities are missing out on this opportunity to make a difference in the health and well-being of students.

In examining the collegiate web sites, Drs. Jue and Metlay looked for the presence of information related to four major health categories: general health, reproductive and sexual health, substance abuse, and mental health. Each health category was further subdivided into specific content areas such as asthma and depression. Researchers also identified three web-based health delivery modes, including health information provided directly on web sites, outside web links to other health-related websites, and interactive web-based health programs such as online assessments or file available to download.

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