Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more

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New heart valve replacement option under study

A new option for heart valve replacement is under study at Emory University Hospital. Cardiologists at the Emory Heart & Vascular Center are conducting groundbreaking research to study a non-surgical treatment option for patients with severe aortic stenosis, a narrowing of the aortic valve opening that affects tens of thousands of people each year. It is most common among elderly patients over 70 years of age, but can surface earlier in life in those with rheumatic heart disease or congenital abnormalities of the valve. Patients often develop symptoms of chest pain, shortness of breath, fainting spells and heart failure.

Peter Block, MD

Peter Block, MD

Emory cardiologists, led by Peter Block, MD, FACC, professor of medicine, Emory School of Medicine, are performing percutaneous aortic valve replacement as part of a clinical trial, comparing this procedure with traditional, open-heart surgery or medical therapy in high-risk patients with aortic stenosis. It provides a new way for doctors to treat patients who are too ill or frail to endure the traditional surgical approach. So far, 115 people have participated in the phase II clinical trial.

In this new procedure, doctors create a small incision in the groin or chest wall and then feed a wire mesh valve through a catheter and place it where the new valve is needed. The standard therapy, which has been used to treat aortic stenosis for more than 30 years, is to remove the diseased valve through open-heart surgery.

Block says the results seen so far in this clinical trial show great promise for this procedure. He says this is especially important since tens of thousands of Americans are diagnosed with failing valves each year and that number is expected to increase substantially in the coming years as baby boomers pass the age of 70.

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Childhood cancer treatment may raise diabetes risk

Cancer survivors who got radiation treatments as children have nearly twice the risk of developing diabetes as adults. That’s according to a study led by Emory and Children’s Healthcare of Atlanta pediatric oncologist Lillian R. Meacham, MD.

Lillian Meacham, MD

Lillian Meacham, MD

The study, published in the August 10/24 issue of Archives of Internal Medicine, compared rates of diabetes in nearly 8,600 childhood cancer survivors diagnosed between 1970 and 1986, and nearly 3,000 of their siblings who did not have cancer.

Children who were treated with total body radiation or abdominal radiation to fight off cancer appear to have higher diabetes risks later in life, regardless of whether they exercise regularly or maintain a normal weight.

After adjusting for other risk factors, including body mass index – a ratio of height and weight – Meacham and team found that childhood cancer survivors overall were 1.8 times more likely to have diabetes.

And the more radiation that was used, the greater the diabetes risk. For those treated with total body radiation — a treatment often used before bone marrow transplants to treat childhood leukemia — the diabetes risk was more than seven times greater.

More study is needed to understand how radiation could promote diabetes in cancer survivors, notes Meacham.

She says it is imperative that clinicians recognize this risk, screen for diabetes and pre-diabetes when appropriate, and approach survivors with aggressive risk-reducing strategies.

Meacham is a professor of pediatrics in the Emory School of Medicine and medical director of the Cancer Survivor Program with the AFLAC Cancer Center and Blood Disorders Services, Children’s Healthcare of Atlanta.

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Relocating central vision

Susan Primo, MD

Susan Primo, MD

The patients seen by Emory low vision specialist Susan Primo, OD, MPH, have already exhausted most of their treatment options. They’ve completed medication regimens or had surgery to slow advanced age-related macular degeneration (AMD), a leading cause of blindness in the elderly. But still they don’t see well.

That’s where Primo comes in. At the Emory Eye Center, she’s studying whether behavioral modifications can lead to a change in brain activity to maximize use of remaining vision.

In macular degeneration, the macula—a layer of tissue on the inside back wall of the eyeball—gradually deteriorates. That delicate tissue is responsible for visual acuity, particularly in the center of the retina. Central vision is needed for seeing small and vivid details such as words on a page or the color of a traffic light, which means it is vital for common daily tasks such as reading or driving.

In more than two decades of working with patients who are visually impaired, Primo realized that people typically use their peripheral vision to compensate for loss in central vision. Studies have shown that people with progressive central vision loss compensate by spontaneously adopting a preferred retinal location (PRL) that takes over responsibility for visual clarity.

Normal vision

Normal vision

Vision with macular degeneration

But Primo and Georgia Tech psychologist Eric Schumacher wanted to know whether using these peripheral regions causes a change in how the brain is organized. Armed with Schumacher’s expertise in functional magnetic resonance imaging (fMRI) and Primo’s clinical experience, the researchers did indeed discover continued activity in the part of the brain that maps to the macula. The brain scans of people with AMD who had developed their peripheral vision showed substantially more activity than those of people who had not developed a PRL. Their study appeared in the December 2008 edition of Restorative Neurology and Neuroscience.

In a current study, Primo and Schumacher are exploring whether occupational training and biofeedback can help people with AMD focus on using good retinal cells and in turn speed up the brain’s reorganization.

“Although others have tried to study this reorganization of macular degeneration before, no one, to our knowledge, has tried to influence it,” says Primo. “Yet it’s important to begin to come up with therapies, treatments, and technology to help patients begin to use their residual vision faster and better than they could before.”

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Making a joyful noise: Joey finds his ‘real voice’

Emory Voice Center patient Joey Finley

Emory Voice Center patient Joey Finley

Last year, seven-year-old Joey Finley sang Christmas carols for the first time in his life. For most parents, this would be uneventful, but for Joey’s mom, Melanie, it was a breakthrough.

Joey was literally silenced all these years because of a rare disease called recurrent respiratory papillomatosis (RRP). The disease allows tumors to grow in the respiratory tract, and is caused by the human papilloma virus (HPV). Currently there are 20,000 active cases in the United States.

Although the tumors mostly occur in the larynx on and around the vocal cords, these growths may spread downward and affect the trachea, bronchi and sometimes the lungs, obstructing breathing. RRP papillomas are the same tumors that cause cervical cancer. There is no cure for RRP. And left untreated, the lesions may grow and cause suffocation and death.

Initially, doctors confused Joey’s RRP symptoms with pediatric GERD or acid reflux disease. Since Joey was two months old, he’s been in and out of hospitals, OR’s and doctor’s offices, and had more than 60 surgeries to remove the tumors on his vocal chords.

RRP adversely affected Joey’s speech. He began compensating for the “frogs” as he called them, by using other vocal muscles to talk.

When Joey met Edie Hapner, PhD, a speech pathologist at the Emory Voice Center, she says he sounded “like a little old man.” His voice was very raspy like that of a 60-year-old smoker.

After several sessions with his speech therapist, Joey is a normal sounding child. Joey now sings in the school chorus and takes gymnastics and swimming lessons. It’s hard to imagine these activities for a child that not so long ago had trouble breathing because of HPV tumors blocking his airways.

Read more about Joey’s journey to ‘find his voice’ and hear him speak in the new issue of Emory Health magazine.

Listen to Emory patient Karon Schindler recount her experience at the Voice Center.

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Dialing 911 saves time and lives

In the time it takes to write this short piece, more than 90 people across the United States will have suffered a heart attack – and almost 40 of them will have died. In the same time frame, a call to 911 could have a patient in an ambulance and on the way to a nearby hospital where lifesaving treatment is ready on a moment’s notice. More often that not, the difference between surviving a heart attack and becoming another statistic is a matter of a few minutes. Precious time.

EMS representative prepares

EMS representative prepares

The very best way someone suffering a heart attack can save time and have a fighting chance for survival is to call 911 instead of driving to the hospital. Here in the Atlanta area, a one-of-a-kind initiative, appropriately named TIME, makes it possible for Emergency Medical Services (EMS) to quickly respond to a patient and transmit life-saving data to local Atlanta hospitals in order to shorten the time to treatment and increase a heart attack victim’s chance of survival. Two Emory hospitals – Emory University Hospital and Emory University Hospital Midtown – are partners with three other local hospitals in this effort to make Atlanta one of the safest cities in America in which to have a heart attack.

Bryan McNally, MD, emergency medicine physician at Emory University Hospital and co-director of the TIME program, says the collaboration is the first cooperative urban program in the United States. It was developed to provide the most rapid response to a cardiac emergency by improving every step of care from the onset of symptoms to treatment at the hospital. The time from the onset of the heart attack to the opening of the artery is critical in reducing heart damage and improving survival.

An EMS call results in quick evaluation, treatment and vital information transmitted to the nearest hospital where a team will stand ready to meet the patient at the door and begin opening a blocked artery within minutes. Kate Heilpern, MD, chair of the Emory Department of Emergency, says the chain of survival from pre-hospital 911 to the emergency room to the catheter lab is available 24 hours a day, seven days a week at our institutions. In these instances, when EMS suspects a heart attack, getting the patient to the right place at the right time with the right providers to do the right thing definitely optimizes patient care and enhances quality and outcome.

Read more about chest pain center accreditation.

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Heart care in women is key to long life

Heart care for women

Heart care for women

Many women do not realize the seriousness of heart disease – in women. Many more do not realize that some of the symptoms of heart attack for women may be different than symptoms experienced by men. Heart disease, also called cardiovascular disease (CVD), is the number one cause of death in women in the United States.

Enter Emory Heart & Vascular Center’s Michele Voeltz, MD. Her work in both the clinical setting and in research focuses on women and heart disease.

Voeltz, who practices at Emory University Hospital Midtown, says the number of women developing CVD is on the rise, with nearly 37 percent of all female deaths in the United States caused by heart disease. She is working to raise awareness about heart disease in women, and she wants to let women know about the resources available to them to take care of themselves.

With women making up 60 to 70 percent of her practice, Voeltz’s mission is to help women and men gain a greater understanding of the differences in risk factors, symptoms and treatment of heart disease in women as compared to men. She has found that women represent an underserved population with regard to cardiovascular care and hopes that her work can help bridge these gaps for women.

Voeltz conducts research in women with heart disease using percutaneous coronary intervention (angioplasty and stenting). With clinical trials to compare stents, medical devices and medications, all of which enroll both men and women, Voeltz analyzes female patients’ outcomes.

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Rapid radiation delivery increases accuracy

RapidArc for prostate cancer

RapidArc for prostate cancer

Doctors in Emory’s Department of Radiation Oncology are the first in Georgia to use a new radiation delivery system that speeds up treatment and increases accuracy.

The first patients treated have been men with prostate cancer, but the treatment can also be used for patients with head and neck cancers or brain tumors, says Walter Curran, MD, chair of the department and chief medical officer of the Emory Winship Cancer Institute.

Curran says the main advantage to the new system, called RapidArc, is faster treatment so a patient is not lying on a treatment table for a long period of time. Limiting the time it takes can help with patient comfort as well as minimizing the chance of movement, which affects accuracy during treatment.

Treatments that once took five to 10 minutes can be performed in less than two minutes. For patients getting radiation daily over several weeks, that can make a significant difference, Curran says.

Emory University Hospital and Emory University Hospital Midtown both have the RapidArc system. Emory Health magazine features RaapidArc this month.

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Cancer survivors may have psychological distress

Long-term survivors of cancer that developed in adulthood are at increased risk of experiencing serious psychological distress, according to a report in the July 27 issue of Archives of Internal Medicine.

The estimated 12 million cancer survivors in the United States represent approximately 4 percent of the population.

Commenting on this week’s study, Michael Burke, MD, clinical director of psychiatric oncology at Emory Winship Cancer Institute, says only recently has the emotional wellbeing of cancer patients been given serious consideration by physicians and patients. Yet, easing the disease’s emotional burden on patients and families may improve patients’ treatment and prognosis.

Michael Burke, MD

Michael Burke, MD

Burke has conducted studies focused on the effects of the disease’s emotional burden on patients and families and whether easing that burden can improve patients’ treatment and coping skills. Burke and his colleagues offer a collaborative approach toward therapies for the emotional, psychological, and physical symptoms associated with cancer and its treatment.

A history of cancer may affect current mental health in several ways, says the Archives study author and Brigham and Women’s Hospital and Dana-Farber Cancer Institute researcher. The researcher reports that cancer diagnosis and treatment can produce delayed detrimental effects on physical health and functioning such as secondary cancers, cardiac dysfunction, lung dysfunction, infertility, neurological complications and neurocognitive dysfunction. A cancer history, they continue, can also affect social adaptation, employment opportunities and insurance coverage. Adjusting to these functional and life limitations may create long-term psychological stress.

Emory’s Burke says to help patients cope with a diagnosis of cancer, he and his colleagues evaluate patients’ medical and personal history, environment and health behaviors, such as whether they’re getting enough exercise or increasingly using alcohol and tobacco.

Listen to Burke’s own words on Sound Science about how he helps patients cope with the emotional aspects of cancer.

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Heart bypass surgery via a small incision

It can be daunting for a patient to hear a heart specialist say bypass surgery is needed. An image comes to mind of traditional open-heart surgery and what this would entail.

A groundbreaking advance pioneered by Emory Heart & Vascular Center doctors now means some patients can have coronary artery bypass surgery without opening up the chest cavity and without stopping the heart.

Called “Endo-ACAB,” this endoscopic surgery is the done via a small incision. In addition, the heart team can combine the Endo-ACAB with angioplasty and Ray Ban outlet stents, thus correcting all blockages a patient has while keeping the chest intact.

Most patients are able to leave the hospital within 48 hours and return to full activity, including work, in two to three weeks, versus the two to three months needed for recovery after traditional surgery. Learn more about the procedure from Thomas Vassiliades, MD, in the video below.

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Prevention counts in health care reform

As Congress and President Obama’s administration work to hammer out the details of health care reform, Emory health policy expert Kenneth E. Thorpe, PhD, says prevention and quality care for chronic diseases are an integral part of reshaping America’s health care system.

Kenneth E. Thorpe, PhD

Kenneth E. Thorpe, PhD

Nearly half of people in the United States suffer from a chronic condition. More than two-thirds of all deaths are caused by one or more of five chronic diseases: heart disease, cancer, stroke, chronic obstructive pulmonary disease (COPD) and diabetes.

Thorpe says transforming the U.S. health care system to better meet the needs of people with chronic disease will require a renewed focus on preventing disease when Ray Ban outlet possible, identifying it early when it occurs, and implementing evidence-based prevention strategies that slow disease progression and the onset of activity limitations, as well as save money for the patient and the health care system.

By preventing costly diseases or better managing them, Thorpe says we can help contain our out-of-control health spending and boost productivity. In our troubled economy, we need to do both.

Read more about Thorpe at Rollins School of Public Health, Institute for Advanced Policy Solutions/Center for Entitlement Reform, and the Partnership to Fight Chronic Disease.

Thorpe’s views can be found by visiting AJC.com, Big Think and The Huffington Post.

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