Whitney Palmer

Healthcare. Politics. Family.

Common Genetic Pathways Implicated RA and SLE

Published on the May 31, 2016, Rheumatology Network website

By Whitney L.J. Howell

Rheumatoid arthritis and lupus are distinct conditions that present in unique ways, but they do share various genetic risk factors. A recent study revealed a new risk locus for both diseases.

Previously, the genetic overlap between the two hadn’t been thoroughly examined. But, a study published in the May Annals of Rheumatic Diseases identified additional risk loci that are shared between rheumatoid arthritis and lupus.

Using genome-wide association studies, the study, “A combined large-scaled meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus,” revealed the genetic variant rs9603612 is located near the COG6 (component of oligomeric Golgi complex 6) gene.

COG6 is located on chromosome 13q14.11, and it’s crucial to proper protein sorting and glycosylation. However, its role in immune-mediated disorders remains unknown.

This study is the first comprehensive, large-scale analysis that looks into the genetic overlap between both disorders. Small sample sizes has been a limiting factor to-date.

“Our results highlight the existence of a relevant genetic correlation between both diseases, as well as the influence of common molecular mechanisms in their pathophysiology,” the authors wrote. “Since common genetic pathways are implicated in rheumatoid arthritis and lupus, a reclassification of patients from a genetic point of view will lead to more specific and effective therapeutic procedures.”

Overall, researchers included 17,552 patients with rheumatoid arthritis, 4,194 patients with lupus, and 46,907 control patients. Data came from Sweden, the United Kingdom, Germany, Italy, Spain, The Netherlands, and the United States.

Through silico expression quantitative trait locus analysis, researchers learned the associated polymorphism acts like a regulator variant that influences COG6 expression. In particular, rs9603612 impacts the transcription factor binding and is linked to gene target expression, most likely regulating COG6 expression in monocytes.

According to investigators, the protein-protein interaction and gene ontology enrichment analyses pointed to an overlap with specific biological processes. Results pointed specifically to the type I interferon signaling pathway. Additionally, the genetic correlation and polygenic risk score analyses showed cross-phenotype associations between rheumatoid arthritis and lupus.

Bivariate analysis revealed a significant genetic correlation between rheumatoid arthritis and lupus. Polygenic risk score analysis showed significant differences between the case groups and controls and that lupus cases had a significant enrichment of rheumatoid arthritis-risk alleles.

The findings, they said, point to rs9603612 being a good candidate for being the casual variant involved in the genetic predisposition of autoimmune disorders.

To read the story at its original location: http://www.rheumatologynetwork.com/lupus/common-genetic-pathways-implicated-ra-and-sle

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June 2, 2016 Posted by | Healthcare, Science | , , , , | Leave a comment

In Radiology, Man Versus Machine

Published on the Feb. 11, 2016 DiagnosticImaging.com website

By Whitney L.J. Howell

Call it artificial intelligence. Deep learning. Computer cognition. Whatever its name, it’s the same thing – machines recognizing clinical problems in digital images ahead of the radiologists charged with making the diagnosis.

The artificial intelligence (AI) trend is new, but it’s gaining ground quickly, according to industry experts. The advent of these technologies and radiology’s growing interest in and dependence on them has been discussed at national and international meetings, including the RSNA, HIMSS, and SIIM annual meetings, during the past year. But, there’s still a long way to go.

“We’re just barely scratching the surface of using artificial intelligence in the last few years,” said Eliot Siegel, MD, professor and vice chair of research information systems for the University of Maryland Department of Diagnostic Radiology and Nuclear Medicine. “There’s an emergence of increasing interest in the largest companies in the world, including Google, Microsoft, Apple, and IBM, in actually starting to use these technologies for data extraction and evaluation.”

AI opens the door for radiologists to compare new images with similar, existing ones, said Siegel who also serves as the chief of imaging for the VA Maryland Healthcare System and has spoken about AI use in radiology.

To read the remainder of the article at its original location: http://www.diagnosticimaging.com/pacs-and-informatics/radiology-man-versus-machine

February 11, 2016 Posted by | Healthcare, Science | , , , , , , , , , | Leave a comment

MYLES to Go

Published on the Dec. 18, 2015 Burroughs Wellcome Fund website

Asking Questions in the Great Smoky Mountains

By Whitney L.J. Howell

In the Great Smoky Mountains, Madison High School senior Chloe Schneider discovered something she never knew before. The mountains are home to a rich variety of snail species – but, some of them are in severe trouble.

Ordinarily, knowing details about the state’s mollusk population serves as a random bit of trivia for a party game. But, for Schneider, this knowledge was critical. Nearly 50 percent of North Carolina’s snails are endangered, but the ones in the Great Smokies are losing ground thanks to environmental changes.

The Millenial Youth Led Expedition (MYLES) of Science program showed the Marshall, N.C. native why it’s important to understand the impacts on the snails’ ecosystem.

“We could really tell how the acid rain has affected the environment and, how if we continue to have acid rain and pollution in the environment, that things will only get worse. Snails won’t be able to live in those areas anymore,” said Schneider, describing the work of her six-person team. “It’s crazy to see how much impact we have and how what we release into the environment can affect other species.”

MYLES, a Burroughs Wellcome Fund (BWF)-supported initiative, introduces high school students to science along the Appalachian Trail. BWF funded MYLES in 2013 with a nearly $60,000, three-year grant to support up to 100 participating students. Over the past two years, according to Dottie Shuman, Ph.D., MYLES grant administrator, surveys conducted at the beginning and end of each week-long program show the program meets BWF’s goal of fostering an augmented interest in and knowledge of science.

During six week-long summer expeditions, she said, students work alongside college-student guides and National Park Service (NPS) rangers, learning protocols and collecting data about the Western N.C. mountains to support long-standing NPS research projects. Students can also present their findings at scientific conferences throughout the school year.

“These students are excited about real science – testing hypotheses and setting up data collection,” she said. “They come back with knowledge about the natural resources at our fingertips, and they’re excited about protecting them.”

And, students don’t leave the program empty-handed – they take some scientific equipment with them. They carry hand lenses and water-test kits home to continue their investigations on their own.

In addition, according to NPS ranger and MYLES program staffer Susan Sachs, program staff hope students will leave MYLES thinking of science as a viable career option.

“A lot of times when students think of science, they think of lab coats and being indoors,” Sachs said. “We want to show them how we use science to study and protect the parks.”

To meet this goal, students participate in on-going NPS research into snail and salamander habitats and the outside influences affecting them. The six-person teams are also encouraged to form their own research questions and hypotheses, but all data gathered contributes to the investigations that have been active for at least a decade, Sachs said.

For example, this past summer, several teams examined how acid rain has impacted the mountain’s snail and salamander populations. Air quality in the area has improved over the past 10 years, but damaging rains still fall with greater amounts hitting the higher elevations, she said. Teams gathered data about soil pH and species diversity, compared it to historical data, and analyzed whether said diversity has increased or decreased over time. They determined, Sachs said, that fewer salamanders now live in the more highly-acidic, upper elevations.

“We use student data to look at salamander health. We might not notice the decline in population if we didn’t have the data students collect,” she said. “This way, we can monitor how changes in moisture and climate change affect these amphibians.”

Frequently, students take their new-found knowledge back into the high school classroom. In fact, two-time participant and high school junior Jalen Ward said hands-on experience with forming hypotheses and analyzing data has been helpful in his advanced placement science classes at Fike High School in Taylor, N.C. But, more importantly, he said, it’s impacted his future plans.

“I’d like to major in biology and maybe be a wildlife biologist working with North Carolina’s wildlife,” he said. “I enjoy the outdoors, so working with nature would be a way to do for a living what I already love to do.”
It’s that type of insight into the value of science as a career and forward-thinking that makes the MYLES program so important, Sachs said. It doesn’t take long for students to develop a deep appreciation for the significance of outdoor science and the opportunities for investigations it presents.

“After this program, science isn’t just something they learn in school. There’s a real value to it,” she said. “A lot students think we do a study and have answers. But, they learn that questions often only lead to more – and better questions.”

To read the story at its original location: http://www.bwfund.org/newsroom/awardee-profiles/myles-go

December 18, 2015 Posted by | Education, Science | , , , , | Leave a comment

Vitamin D’s Effect on Rheumatoid Arthritis

Published on the Oct. 27, 2015 Rheumatology Network website

By Whitney L.J. Howell

Severe Vitamin D deficiency could be responsible for persistent rheumatoid arthritis (RA) disease activity, according to a new study.

The study, conducted with 149 patients with active RA, observed the impact of Vitamin D supplementation on illness duration, pain severity, tender joint counts (TJC), swollen joint counts (SJC), serum Vitamin D levels, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP).

The mean participant age at recruitment was 49, with 94% being female and 6% being male. The average duration of illness was 78 months, and average length of disease-modifying anti-rheumatic drugs (DMARDs) treatment was 44 months. Participants also had other co-morbid conditions, including diabetes, hypothyroidism, asthma, and benign prostatic hyperplasia.

Patients were divided into four groups:

(1) high disease activity with low Vitamin D

(2) high disease activity with normal Vitamin D

(3) low disease activity with low Vitamin D

(4) low disease activity with normal Vitamin D

To see the remainder of the article at its original location: http://www.rheumatologynetwork.com/rheumatoid-arthritis/vitamin-d-effect-rheumatoid-arthritis

October 27, 2015 Posted by | Healthcare, Science | , , , | Leave a comment

The Right Match

Published in the Fall 2015 Cancer Today

New NCI clinical trial will link patients to drugs that target their tumor.

By Whitney L.J. Howell

Researchers are on a mission to match cancer patients whose tumors have stopped responding to treatment with the targeted therapies most likely to slow their tumor’s growth. This effort took an important step forward in August with the launch of the National Cancer Institute’s Molecular Analysis for Therapy Choice (NCI-MATCH) trial, which will enroll patients at up to 2,400 sites nationwide.

The NCI-MATCH trial expects to screen about 3,000 cancer patients, testing

A new NCI clinical trial will link patients with drugs that target their tumors. |

A new NCI clinical trial will link patients with drugs that target their tumors. |

their tumors for more than 4,000 different mutations across 143 genes, with the goal of enrolling 1,000 patients in the trial. Patients will be eligible for NCI-MATCH if their tumor has a genetic abnormality that’s targeted by one of the study drugs, which include targeted therapies approved for or now being studied in other types of cancers. Patients can receive treatment at the trial site nearest to their home, regardless of which treatment they receive. ​The trial will open with 10 drug arms; over time, new treatments will be added, and those that do not prove beneficial will be dropped.

For patients with rare cancers, NCI-MATCH will provide more opportunities to enter clinical trials. If a researcher wanted to conduct a trial for a specific type of cancer with a specific mutation, there might be too few patients “to warrant running a full clinical trial,” says Alice Chen, a medical oncologist at the NCI’s Center for Cancer Research in Bethesda, Maryland, who is co-leading NCI-MATCH. But with this trial, she says, it is the mutation, and not where the cancer started, that matters.

By flipping the enrollment requirement from the type of cancer to the type of mutation, and by looking for thousands of mutations all at once, the trial provides “a very efficient strategy,” says Keith Flaherty, an oncologist and hematologist at Massachusetts General Hospital Cancer Center in Boston. There has been no system in place to do this for many different cancers on a large scale. “The MATCH trial solves that problem.”
NCI-MATCH also aims to overcome another common barrier to enrollment: distance from a clinical trial site. Bringing the trial to where the patients are, says Chen, means less travel time as well as the opportunity for patients to stay connected to their support systems. “It’s really important to allow patients to have their family and friends around them at a time when they potentially really need that support.”
To read the article at its original location: http://www.cancertodaymag.org/Fall2015/Pages/NCI-MATCH-Trial-Links-Patients-Targeted-Drugs.aspx

October 26, 2015 Posted by | Healthcare, Science | , , , , , , , , , | Leave a comment

Solving Problems, Saving Lives

Published in the Summer 2015 North Carolina State University College of Veterinary Medicine Magazine

By Whitney L.J. Howell

The Veterinary Hospital at NC State University is major referral center for veterinarians from throughout the Southeast. Board certified specialists annually diagnose and treat more than 27,000 patients who are often seriously ill and require the best that veterinary medicine offers. The patient case load also allows for instruction of the next generation of veterinarians and the opportunity for clinical trials that advance animal health and well-being.

Henry, a Hanovarian horse, was fast. Galloping was always one of his favorite things. Charging down a trail at speed, he never missed an opportunity to let loose with a playful buck. Until one day, he started to hurt. Initially, Henry tried to ignore the pain to keep running in the field and competing in Hunter/ Jumper shows with his owner. As time passed, the pain grew. He stopped running, and almost any exercise in the field or the show ring caused discomfort. No matter what he did, he couldn’t shake the problem, and his doctors were stumped.

The puzzle pieces finally started to come together when Henry’s owners, the Thompsons, brought him to North Carolina State University’s College of Veterinary Medicine. Despite his uncertain future as a show horse, the Thompsons wanted him to receive the best care possible.

“Henry has a great personality—he just loves people,” says Julia Thompson. “He’s the sweetest thing, like the son I never had. Seeing Henry in so much pain was very distressing for my daughter because no one could figure out what was wrong with him. She was very attached to him.”

As a horse with undiagnosed head-shaking, Henry needed a veterinarian experienced with difficult-to-solve cases and a clinic with advanced technologies and varied expertise unavailable elsewhere.

Initially, his owners and primary care veterinarian speculated Henry’s head-shaking appeared because he wasn’t accustomed to the gnats in his new environment. Bred in arid New Mexico, he’d never encountered the insects so common in humid Charleston, South Carolina. But when the behavior continued to the point where he couldn’t hold a bit, everyone searched for another reason.

Head-shaking in horses isn’t uncommon, according to Callie Fogle, clinical associate professor of equine surgery at NC State’s Veterinary Hospital. It’s thought to be similar to the severe headaches and uncomfortable tingling sensations experienced by humans with trigeminal neuralgia. The pain and tingling in the head of the horse, however, manifests itself through headshaking, particularly during physical exertion. It can be extremely debilitating.

“This can be a really terrible thing in a horse,” says Dr. Fogle. “Some can’t eat, they can’t function, and most horses can’t be ridden because of the bobbing and shaking of their head the whole time. Some cases can be so uncomfortable for them to live normally.”

Fogle discovered Henry’s problem during a preliminary conversation with his trainer. When she opened Henry’s mouth, she saw it—a mass invading his lower right jaw, pushing his teeth out of alignment.

“His trainer was shocked,” Fogle says. “She’s very thorough and attentive, and even she hadn’t seen this. That’s how quickly this tumor had grown, and she was convinced that was the source of Henry’s head-shaking.”

Fogle wasn’t convinced because head-shaking root causes can be elusive and a mandibular, or lower jaw, problem causing head shaking hadn’t been described before. Quick X-rays revealed an abnormal growth of new bone in Henry’s jaw, radiating from its center like a sunburst. Tests of a small sample of the growth revealed that it was aggressive cancer, and the pathologist classified it as a tumor of dental origin. The tests also revealed another significant problem—Henry also had a bacterial infection in his jaw.

But the team needed more information. They did a short-acting nerve block of the jaw and took Henry out for exercise, to ensure the mass was the problem spot. With this area of his jaw desensitized, Henry was able to hold a bit and had no head-shaking. Tumor-induced pain was most likely the culprit behind the head-shaking, which meant to treat Henry’s head-shaking, she’d have to remove a significant portion of the rostral, or front portion, of his mandible.

“In a horse, that’s not something to be taken lightly because they need their teeth for grazing and grasping things,” says Fogle. “It affects them. We had to make sure we took enough of the jaw to get the entire tumor, but no more than absolutely necessary.”

To get a better idea of the tumor’s exact location and size, they anesthetized Henry and performed a CT scan with 3D reconstruction images, an advanced imaging procedure not available in the majority of equine veterinary clinics.

Fogle removed the whole right side of Henry’s rostral mandible, including his canine and all incisor teeth on that side. She was able to preserve enough of his jaw bone, though, so that he didn’t need a prosthetic device or any stabilizing metal implants. Henry was also given antibiotics to treat the bacterial infection within his jaw.

Now, more than a year-and-a-half after surgery, Henry’s back to his old activities and doing well according to the Thompsons. “He’s like Prince Charming—still a loving, wonderful and kind spirit, full of personality,” she said. “He’s doing much better and his demeanor never changed. He just exudes charm.”

Buster: Pulmonic Stenosis

Initially, Lisa Bass from Greenville, South Carolina, wasn’t keen that her son brought Buster home from college. Her house was already crowded with a 13-year-old Labrador Retriever and an 18-year-old Schnauzer. She couldn’t see where a 12-week-old Bernese Mountain Dog puppy— a toddler-sized dog—would fit. But after one summer, Buster won her over.

“We fell in love with him,” says Bass. “He makes you smile. He’s such a little cut-up. When he looks at you, it’s not with the eyes of a dog, but a person. He’s constantly playful—he’s the light of our lives.”

That’s why Bass was so surprised when her veterinarian heard a heart murmur during Buster’s one-year check-up. After an echocardiogram (a cardiac ultrasound exam), Buster’s diagnosis was clear. He had pulmonic stenosis—a congenital defect of the valve between the heart’s right ventricle and the main artery that carries blood to the lungs (pulmonary artery). This defect thickens and narrows the valve, forcing the heart to work harder to pump blood across it. Dogs with severe pulmonic stenosis often live shorter than normal lives, and they can develop heart failure or arrhythmias at a relatively young age.

Even through Buster was not showing clinical signs of his heart defect, he had a poor prognosis for a normal life. Buster’s pulmonic stenosis was severe, causing a pressure difference between the right ventricle and pulmonary artery of over 100mmHg (there is normally no difference). The best option, Bass’s veterinarian said, was an interventional procedure called balloon valvuloplasty, and he referred Buster to the Hannah Heart Center of the Veterinary Hospital at NC State University’s College of Veterinary Medicine— the only veterinary heart center in North or South Carolina that performs the procedure.

Balloon valvuloplasty is a minimally invasive procedure that is done under general anesthesia in the cardiac catheterization laboratory. A catheter is introduced through a needle stick in either the jugular vein in the neck or the femoral vein in the groin. Under fluoroscopic (x-ray) guidance, a high pressure balloon is carefully placed across the defective valve. Once positioned, the balloon is inflated to expand the valve area, relieving the obstruction to blood flow across the valve. At NC State, the procedure is permanently effective in returning the valve to nearnormal function more than 90% of the time.

Buster’s outcome, according to Dr. Teresa DeFrancesco, section chief for cardiology, dermatology, and oncology at the Veterinary Hospital, was outstanding.

Buster’s peak pressure gradient fell to 44mmHg.

“Buster now has only mild residual stenosis, and his lifespan should no longer be significantly shortened by his heart defect. He still has a heart murmur, but we’ve gone from a severely affected dog to one mildly affected.”

The Bass family sees no change in Buster’s behavior— and that’s just what they wanted.

“From our perspective, Buster has stayed the same,” says Bass. “He never gave us any indication that he was sick, and now that he’s back home and being Buster, you’d never know he’d been sick. It’s amazing that his energy level is the same. He lights up a room with his expressions. If I had to do it all over again, there’s no question I’d bring Buster to N.C. State.”

Buster, who probably would have died as a young adult, now has the potential for a normal lifespan thanks to his veterinarian who detected the problem during his annual checkup.

“Sometimes when dogs are older, the affected tissues are tougher, and more difficult to dilate,” says DeFrancesco. “This means our ability to help may be reduced. We like to see patients with this defect as soon as possible. Puppies presenting with loud murmurs (grade 3/6 and above) should be evaluated by a veterinary cardiologist as soon as possible.”

Alice: Diagnosed with Uterine Cancer

It’s said there’s often one hen to rule the roost.

In the case of Alec Bergin, a 13-year-old boy from Moore County, that hen is Alice, a rare breed Phoenix chicken. Ever since Alice joined the Bergin family with three other Phoenix hens, Alec has hand-fed her treats and watched her assume a leading-lady role, hatching and mothering her share of 12 chicks.

“This is Alec’s own flock, and he takes care of them,” says Jennifer Bergin, Alec’s mother. “He’s responsible for feeding and watering them. He goes outside and spends 20 minutes every day just watching them to make sure they’re acting normally. If anything’s wrong, he can catch it early on.”

And that’s exactly what Alec did one evening. Instead of running for her treat like normal, Alice stayed on her nest. She only half-heartedly pecked at the niblet, and after looking her over, Alec and his mother noticed her distended belly and discovered her back end was covered in feces. Their first assumption: she couldn’t lay her eggs.

Taking Alice to the community veterinarian wasn’t an option— chickens aren’t everyday pets. To get this family hen the proper care, Bergin brought her to the NC State Veterinary Hospital and put her in Jeff Applegate’s hands.

“When Alice came in, she was very lethargic and exhibited the distended belly or coelom so we started with a physical exam, completed blood work, and proceeded to complete an emergency ultrasound in concert with the Radiology Service,” says Dr. Applegate, a clinical veterinarian specializing in companion exotic animal medicine.

“The ultrasound revealed significant fluid and abnormal tissue in and around the reproductive tract,” Applegate continues. “There shouldn’t have been any free fluid in her belly. Of the more routine birds that we treat as pets, the abdomen or more appropriately referred to as a coelom can be described as a central column or organs like the heart, liver, and intestines, with the remaining space occupied by the surrounding air sacs and lungs.”

Reproductive disease is common in chickens, and it’s analogous to uterine disease in humans and other mammals. The ultrasound showed Alice had free coelomic fluid and abnormal tissue in her oviduct, the tunnel in which an egg forms and by which it leaves the hen’s body. The diagnosis was oviductal adenocarcinoma—Alice had uterine cancer. The treatment: a salpingohysterectomy, the avian equivalent to spay.

Once the Bergins green-lighted surgery, understanding Alice would never again lay eggs, Applegate assembled a team from the Exotic Animal Medicine Service to combine their skills during Alice’s operation. Pooling talents from multiple specialties is a benefit the NC State University Veterinary Hospital offers patients according to Applegate. In cases like this, many collaborating hospital services may include specialists from emergency and critical care, radiology, anesthesia, and surgery.

The surgery—an invasive procedure with the surgeons removing Alice’s diseased oviduct through a small L-shaped incision behind her left leg—was a success with few complications and a moderate amount of bleeding. After two weeks recuperating in the Bergin’s master bathroom, Alice moved back outside and assumed her leadership position.

“She’s living with friends and doesn’t look any different from the other hens,” Bergin says. “She’s a valued member of our family as much as the cats and dogs are.”

To read the story at its original location: https://drive.google.com/file/d/0BwTq5NcNMuyjamNwVzJaSlhZNFU/view

August 15, 2015 Posted by | Healthcare, Science | , , , , , , , , , , , | Leave a comment

Harmful Or Harmless? New Studies Light Up Debate on E-cigarettes

Published on the June 8, 2015, N.C. Health News website

Even as more people use e-cigarettes, questions arise about their safety and whether they actually do help smokers kick the habit.

By Whitney L.J. Howell

When e-cigarettes hit the market in 2007, they were embraced as an effective and safe strategy for smokers to break their addiction to traditional cigarettes. Since then, they’ve grown in popularity among all age groups. But research has revealed mixed success in helping to quit.

And now North Carolina researcher are questioning their safety.

Some of the e-cigarette liquids for sale in N.C. today. Flavors, from left to right: watermelon, Irish cream and appletini. Photo credit: Rose Hoban

Some of the e-cigarette liquids for sale in N.C. today. Flavors, from left to right: watermelon, Irish cream and appletini. Photo credit: Rose Hoban

A new study from Research Triangle Park-based RTI International points to many e-cigarette characteristics that could pose intrinsic, and yet unidentified, health dangers. The research comes on the heels of reports that e-cigarette use is on the rise.

In North Carolina, according to the North Carolina Youth Tobacco Study, e-cigarette use sky-rocketed 325 percent among high school students from 2011 to 2013. A full 10 percent of students are now considering using e-cigarettes.

Other research, including a March 2014 Journal of the American Medical Association Internal Medicine study, showed e-cigarette use among Americans leaped from 2 percent of U.S. smokers in 2010 to more than 30 percent in 2012.

Whether e-cigarettes are helping smokers quit has been the subject of pretty fierce debate in the research world. A May 2014 study published in Addiction showed the alternative cigarettes helped 60 percent of aspiring quitters reach their goal. Other studies suggest that e-cigarette users quit smoking but keep using the e-cigarette as a way to get nicotine.

Many of those former cigarette smokers argue the newer devices are safer.

But to date, said Jonathan Thornburg, RTI’s director of exposure and aerosol technology and lead study author, there’s been no way to prove e-cigarettes are any safer than traditional cigarettes. And, it turns out, he said, they may be just as dangerous.

“The visible smoke from e-cigarettes dissipates just after exhale, but those particles are still there – there’s still a high potential that the public will breathe them in,” Thornburg said. “Other research has found that second-hand nicotine exposure from e-cigarettes is similar to that of conventional cigarettes.”

Current use

Traditional cigarette use is falling among American high school students, but, based on Centers for Disease Control and Prevention data, e-cigarettes are the popular substitute. An April CDC report, based on the National Youth Tobacco

N.C. tobacco users by gender. Data source: N.C. Youth Tobacco Survey, 2013

N.C. tobacco users by gender. Data source: N.C. Youth Tobacco Survey, 2013

Survey, revealed e-cigarette use has tripled among American teenagers.

From 2011 to 2014, e-cigarette use nationwide among middle-schoolers rose from 1.1 percent to 3.9 percent and from 4.5 percent to 13.4 percent among high-schoolers. Those rates translate to approximately 450,000 middle school students and 2 million high school students.

E-cigarette dangers

Although the Food and Drug Administration has deemed many e-cigarette ingredients safe for consumption, that categorization doesn’t necessarily mean they’re safe to inhale. That’s where the safety of e-cigarettes becomes ambiguous, Thornburg said.

A man “vapes” an e-cigarette. Often the devices are made to look like traditional cigarettes. Photo by Taylor Dahlin, flickr creative commons

A man “vapes” an e-cigarette. Often the devices are made to look like traditional cigarettes. Photo by Taylor Dahlin, flickr creative commons

E-cigarette vapor particles are small – only slightly larger than a bacteria, at a width of 100 to 800 nanometers. But, even at that size, they pose a threat, he said. Nearly half of all inhaled e-cigarette particles remain in the lungs to grow in the respiratory system, and the remaining exhaled particles can be as dangerous as second-hand smoke.

“People need to know the potential for significant second-hand smoke with e-cigarette vapors,” Thornburg said. “Danger doesn’t just come from inhaling the nicotine, but from the other chemical vapors too.”

Lighting an e-cigarette also presents a risk. E-cigarettes don’t ignite like traditional ones, so there’s no carcinogen from combustion, but starting one produces a slightly altered form of formaldehyde, a disinfectant and embalming fluid. That form has a greater potential for getting stuck in lung tissue.

In addition, little is understood about what happens when other e-cigarette ingredients get into lungs. The glycerin, propylene glycol (a syrupy liquid added to food, cosmetics and some medicines to help them absorb water and stay moist), food preservatives and artificial flavorings could be dangerous to breathe in.

In fact, it’s already well known, Thornburg said, that inhaling artificial butter flavoring, one of the popular flavors in the liquid used in e-cigarettes, is dangerous.

He said that while there could be a level of preservatives and flavors that’s safe to breathe in, “we don’t know what that is yet.”

To answer that question, Thornburg’s team is conducting a study to determine if e-cigarette second-hand exposure to the nicotine and other ingredients is high enough to warrant concern. The goal is to inform public policy on how and when e-cigarettes should be regulated.

But until that data exists, he said, cities and towns can’t create any ordinances addressing e-cigarette use.

Social risks

Determining the actual health risks associated with e-cigarettes goes beyond giving teeth to public health regulations. It’s also critical to combating advertising and marketing efforts that present these products as completely safe alternatives to traditional cigarettes, said Annice Kim, a social scientist in RTI’s public health policy research program.

From 2011 to 2014, money spent on publicizing e-cigarettes ballooned from $6.4 million to more than $100 million, reaching

In this commercial, actress Jenny McCarthy says, “I get to have a blu without the guilt, because there’s only vapor, not tobacco smoke.” Image via youtube screen shot

In this commercial, actress Jenny McCarthy says, “I get to have a blu without the guilt, because there’s only vapor, not tobacco smoke.” Image via youtube screen shot

approximately 24 million youths.

“It’s a big public health concern because these ads might make e-cigarettes appealing to young people,” Kim said. “It’s alarming from a social, medicine and public-science perspective that these ads feature celebrities espousing the benefits of e-cigarettes when their safety has not been established.”

Despite heavy advertising and lack of safety data, some states are already implementing measures to curb e-cigarette use. In most states, including North Carolina, e-cigarettes cannot be sold to anyone under age 18. North Carolina also taxes the sale of e-cigarettes.

Other states have implemented e-cigarette bans on school property, and several states, also including North Carolina, specifically prohibit the use of e-cigarettes in 100 percent smoke-free sites.

Additional research

Alongside the RTI study, research is starting to reveal that e-cigarettes carry their own health hazards. A recent study out of UNC-Chapel Hill showed that five of 13 liquid flavors – including hot cinnamon candies, banana pudding and menthol tobacco – are toxic in high doses and can change cell life, cell reproduction and cell communication in the lungs.

Work out of the University of Alabama School of Medicine discovered that the temperature of the e-cigarette coil is directly associated with the production of harmful chemicals, such as acrolein (used in herbicides), acetaldehyde (a toxic irritant) and formaldehyde. And inhaling the vapor suppresses one’s ability to cough.

Albert Einstein University researchers found that after 30 e-cigarette puffs in 15 minutes, users were far less sensitive to capsaicin, a component of chili peppers that can induce coughing. A reduced ability to cough can be dangerous because coughing can prevent choking and it removes infectious agents from the lungs.

New research with mice from Indiana University found that just the nicotine in e-cigarettes is enough to negatively impact lung function. The effects are greater with higher doses, but nicotine inhalation causes acute lung inflammation, decreased lung cell growth and a change in lungs’ ability to act as a barrier to outside insult.

Even substances found in nicotine-free e-cigarettes attacked the molecules that hold together the endothelial cells that line the lungs and protect from infection.

The hope, Kim said, is this current and future research will continue to highlight the yet-unknown dangers of e-cigarettes both to the user and those in the vicinity. Data that reveals the potential negative impacts, she said, could be the best arrow in the quiver to fight against marketing efforts that support e-cigarette use.

“If we don’t make an effort to educate people, we’re only going to be flooded by counter messages that e-cigarettes are perfectly safe,” Kim said. “Perceptions, correct or not, will be spread by word of mouth and on social media.”

To read the story at its original location: http://www.northcarolinahealthnews.org/2015/06/08/harmful-or-harmless-new-studies-light-up-debate-on-e-cigarettes/

June 8, 2015 Posted by | Healthcare, Science | , , , , , , , , , , , , , , , , | Leave a comment

New Research Points to Feeding Peanuts Early to Avoid Allergy

Published on the May 5, 2015, North Carolina Health News Network website

New findings about peanut allergies is turning the advice pediatricians give to parents of young children on its head. Scientists from North Carolina are in the thick of this new research.

By Whitney L.J. Howell

As a 15-month-old, Brayden Baylor touched his first peanut butter cracker. Within minutes, his face turned red, he broke out in hives and he began rubbing his eyes until they were swollen shut.

It was a classic peanut-allergy reaction. But, because he hadn’t actually eaten the cracker, or the peanut butter on it, his parents didn’t realize what was happening – until a second reaction erupted within hours.

“We had given him a dose of Benadryl, and, at the time, we still didn’t really know what caused the problem. There’s no history of food allergies in either of our families,” said Karrie Baylor, Brayden’s mother and a Charlotte resident. “But when it happened a second time, he was sitting in my lap and suddenly turned red and swollen. That’s when we took him to the emergency room.”

After a blood test, a local allergist diagnosed Brayden with a peanut allergy – a potentially deadly immune response affecting between three million and six million Americans, the majority of whom are children. According to a 2001 Archives of Internal Medicine study on food allergies, peanut allergies rank worst, accounting for more than 50 percent of the 200 annual food allergy-related deaths nationwide.

Peanuts are one of North Carolina’s most significant agricultural products, yielding about 8 percent of the U.S. total annual production. Much of the research on peanut allergy has also been done in N.C. Image courtesy USDA

Peanuts are one of North Carolina’s most significant agricultural products, yielding about 8 percent of the U.S. total annual production. Much of the research on peanut allergy has also been done in N.C. Image courtesy USDA

In fact, the fear of peanut allergy and its potentially fatal outcomes prompted the American Academy of Pediatrics, in 2000, to issue guidelines recommending children consume no peanut protein before age 3. The hope was that delayed exposure would give a child’s immune system time to strengthen and prevent peanut allergies.

But that hasn’t happened. Between 1997 and 2010, peanut-allergy prevalence among American children has skyrocketed 50 percent, according to the Centers for Disease Control and Prevention. And, based on existing data, occurrence within North Carolina mimics the national population.

This meteoric rise has baffled allergy and immunology researchers and sparked many investigations into the body’s response to peanut protein and how it can be calmed. Now there’s a watershed study, funded by the National Institutes of Health, that experts say conclusively proves the existing approach to combating peanut allergies has been wrong.

In short, the AAP guidelines meant to safeguard children like Brayden are actually causing more allergy cases to break out.

“This study is definitive. That’s unusual in this business,” said Herman Mitchell, vice president for Rho, the Chapel Hill-based contract research organization that handled the study’s statistical and data coordination. “We usually see trends, but this is a whopping finding that is very clear. It’s a reason to completely change the recommendations about avoiding peanuts at an early age.”

Problem peanuts?

While peanut-allergy rates are high in the United States and United Kingdom, that’s not the case everywhere. A 2008 Journal of Allergy and Clinical Immunology study revealed British children were 10 times more likely to have a peanut allergy than Israeli children.

Those nation’s health care systems are roughly equivalent, but there’s a significant cultural difference. Israeli families introduce children to peanut products far earlier. A snack called Bamba – a peanut butter-flavored corn puff – is present in 90 percent of Israeli homes and helps transition infants to solid food.

As part of the NIH’s Immune Tolerance Network, Gideon Lack, pediatric allergy professor at King’s College London, launched a study to investigate whether eating peanut-protein products, such as Bamba, early has a protective effect, Mitchell said.

Lack’s five-year study enrolled 600 4-to-11-month-old children who were at risk for developing a peanut allergy.

They either had another existing food allergy, a family history of peanut allergy or eczema. Half of the children were introduced to Bamba, while the other half followed the existing guidelines that prohibit exposure. The children who received Bamba ate it three times a week for five years.

The study ended with a food challenge that escalated the peanut-protein amount participants ate over several hours.

The results, published in a February New England Journal of Medicine issue, showed children who ate Bamba were 81 percent less likely to develop peanut allergy. Among non-consumption participants, 13.7 percent developed a peanut allergy, while only 1.9 percent of the Bamba group did.

According to Wesley Burks, chair of pediatrics at the UNC-Chapel Hill School of Medicine, Lack’s study will change how doctors advise parents about peanuts.

Burks leads a long-standing peanut-allergy study designed to help children with existing peanut allergies, including Brayden, develop a tolerance to peanut protein.

“These studies will change the paradigm with respect to feeding in the first six months of life for kids with allergic diseases. The guidelines for introducing peanut protein will change within the next year,” he said. “That will be the easy part; but medical guidelines take years to be disseminated.”

It will take between five and 10 years, he said, for pediatricians to abandon the current guidelines and begin advising parents based on these new findings.

Testing the idea

While the results of Lack’s study seem to indicate that preventing peanut allergy before it occurs is possible, it’s not yet clear whether that’s the case, Mitchell said. The effect could be desensitization, meaning participants who exhibit no current allergic responses could have reactions to peanut protein later in life.

To answer that question, several Bamba group participants agreed to avoid peanut protein for a year and then complete another food challenge. This new group will also include 40 children who don’t have peanut-allergy risk factors but had a positive allergy skin test. Results of this new study will also help doctors treat children with peanut allergies.

“It would be ideal if we could understand exactly who’s at risk,” he said. “Then pediatricians could measure a child’s risk and could recommend early [peanut-protein] exposure.”

Mitchell advised that parents have their child evaluated by an allergist if any peanut-allergy risk factor exists. An allergist can provide guidance on how to introduce peanut protein into the diet.

Slow buildup

These study results and new guidelines will help prevent peanut allergies in

Karrie and 6-year-old Brayden Baylor share a Reese’s Peanut Butter Cup three years after Brayden started treatment for his peanut allergies. Photo courtesy Karrie Baylor.

Karrie and 6-year-old Brayden Baylor share a Reese’s Peanut Butter Cup three years after Brayden started treatment for his peanut allergies. Photo courtesy Karrie Baylor.

infants and newborns, but it can’t help the children who already live with peanut intolerance.

That’s where Burks’ work comes in. For more than 25 years, he has worked toward treatments that help children – most of whom are over age 2 – develop a peanut-protein tolerance that reduces the severity of allergic reaction. The therapy is considered a success if a child can ingest a peanut or peanut protein without being thrown into a debilitating or potentially fatal immune response.

To date, Burks, who is also physician in chief at North Carolina Children’s Hospital, and his team have developed three treatment forms, all of which culminate with a food challenge similar to Lack’s study. In some cases, participants drip peanut protein-infused liquid under their tongue, while others wear patches impregnated with peanut protein. The most effective strategy though has been mixing peanut-protein powder with other well-tolerated foods, such as applesauce or ice cream.

“When the protein powder is introduced regularly – and in increasing quantities – it can make changes to the immune system,” Burks said.

Based on Rho’s data, Burks said he will begin to enroll and treat younger children in a continued effort to reduce peanut-allergy impact.

In the meantime though, he will continue to treat children Brayden’s age and younger, helping them overcome their peanut allergies. Brayden’s therapy has already been declared a success after three years: He passed his final food challenge without exhibiting any signs of allergic reaction.

His celebratory feast? His first-ever Reese’s Peanut Butter Cup.

To read this story at its original location: http://www.northcarolinahealthnews.org/2015/05/05/new-research-points-to-feeding-peanuts-early-to-avoid-allergy/

May 5, 2015 Posted by | Healthcare, Science | , , , , , , , , , , , , , , , | Leave a comment

Exploring the Waves for New Medical Knowledge

Published on the March, 16, 2015 North Carolina Health News website

Researchers in eastern North Carolina are culling the waters of the coast to find ingredients for new drugs and treatments for disease.

By Whitney L.J. Howell

Think about the ocean, and visions of whales, shellfish and the occasional starfish might pop to mind, not medical therapeutics and advancements in drug delivery. But with new research, the waves that crash on North Carolina’s coast are bringing innovative strategies and tools for improving health.

Together, researchers from the University of North Carolina-Wilmington and East Carolina University’s Brody School of Medicine are investigating how microorganisms found in ocean waters could improve the performance of existing medications, such as drugs for diabetes, cancer and heart disease.

“There’s a new class of compounds based on marine life that can get inside cells and show the cell’s permeability,” said David Brown, an ECU cardiac physiologist and associate physiology professor involved in the partnership.

Brown said UNCW researchers know the ocean side of the equation, whereas his group has studied compounds that can potentially be used to create designer medicines that get into cells and function better.

“Where UNCW’s expertise stops … is where we pick up,” he said.

The partnership, which still awaits final funding approval, formed in response to a call from the University of North Carolina Board of Governors for game-changing research between UNC system institutions that could spawn new approaches to treating disease.

Sharing work & benefits

Any research successes borne from North Carolina’s 300 miles of coastline and estuaries would likely be further supported by the UNCW-based Marine Biotechnology in North Carolina program and the nonprofit Wilmington-based Marine Bio-Technologies Center of Innovation. The Bio-Technologies Center, bolstered by a $2.5 million grant from the N.C. Biotechnology Center, is charged with helping shepherd discoveries into products and processes.

The marine life component of this collaboration comes from the lab work of UNCW Center for Marine Science director Dan Baden, who has studied red tide, the algae bloom known for killing large

UNCW Center for Marine Science director Dan Baden with some of the more than 750 cloned samples from more than 500 microorganisms collected from the waters off North Carolina’s coast. Photo courtesy UNC-Wilmington/Jamie Moncrief

UNCW Center for Marine Science director Dan Baden with some of the more than 750 cloned samples from more than 500 microorganisms collected from the waters off North Carolina’s coast. Photo courtesy UNC-Wilmington/Jamie Moncrief

fish populations by paralyzing their central nervous systems.

Baden’s team identified a microorganism capable of crossing a cell’s outer protective layer – the membrane that acts as a gatekeeper, only letting select substances in and out of cells.

His team dubbed these microorganisms “escortins” because they can escort materials through that natural cellular fence, depositing them at a specific target. Escortin™ is already on the market as a cancer-drug delivery tool. Test results showed it delivers cancer medications to cells within minutes, compared to other drug-delivery systems that can take up to a day to be effective.

Work is underway for additional safety and efficacy trials, as well as clinical trials, to test whether Escortin can be used in other ways, Baden said.

Escortin could be given alongside other drugs, said Baden, who is also a UNCW marine sciences professor.

“If we can bind the escortins to a drug of interest at ECU, then we have the potential

to develop a pairing where our molecules carry medications across the membrane efficiently,” he explained. He called escortin “a molecular carrier that could potentially have ubiquitous importance well past the end of all our careers.”

Delivering a guarantee

At ECU, Brown’s research has focused on mitochondria, the structures in cells that convert food into energy. He calls mitochondria the key to medication success.

Brown has focused on the mitochondria inside heart cells, how they affect heart disease and irregular heartbeats and how they repair other malfunctioning mitochondria. When cells are diseased, he said, mitochondria don’t work well.

Because of the cell’s outer membrane, there hasn’t yet been a definitive way to get drugs to the mitochondria in order for them to heal and return to normal functioning.

“Many times, there’s no guarantee a medicine will get into the cell that can benefit from it,” Brown said. “There’s no way to be absolutely sure [a medicine] gets to the right place.”

Escortins create that guarantee for mitochondria, Baden said, taking medications through the cell’s outer membrane.

North Carolina waters bring healing

That targeted drug delivery could have a significant impact on adults living near both institutions.

According to 2010 data from the North Carolina State Center for Health Statistics, nearly 13 percent of adults in eastern North Carolina – the highest rate in the state – live with Type 2 diabetes. Data from the Eat Smart Move More NC initiative also revealed between 63 and 68 percent of adults in the same area are overweight or obese.

Parts of cells being measured out for testing in the UNCW Center for Marine Science. Investigators use methods that involve physics and biology to learn more about the cells’ function and structure at the molecular level. Photo courtesy UNC-Wilmington/Jamie Moncrief

Parts of cells being measured out for testing in the UNCW Center for Marine Science. Investigators use methods that involve physics and biology to learn more about the cells’ function and structure at the molecular level. Photo courtesy UNC-Wilmington/Jamie Moncrief

“Mitochondria in diabetics aren’t good at burning fuel for many reasons,” ECU’s Brown said. “If we can use the ocean to help design treatments, then there’s huge potential for treating the disproportionately high population of diabetics and people with metabolic illness.”

The escortin-medication relationship could also improve the efficacy of heart medications, Baden said. Being able to deliver heart medications to patients who’ve had a heart attack or stroke in a timely manner can potentially decrease avoidable deaths, an important goal in eastern North Carolina, a region known as the “buckle” of the “stroke belt.”

Economic impact

The state’s 300-mile coastline presents the universities with a wealth of discovery opportunities, said Deb Mosca, the Bio-Technologies Center’s chief executive and a microbial geneticist who studies the genetics of microorganisms.

UNCW researchers are already deeply involved in culling the ocean for plants and animals that could benefit human health. Once they find a new organism with intriguing characteristics, they clone it, eliminating the need to harvest more and potentially disrupt the ocean’s ecosystem.

In doing so, Baden said, investigators are looking for new aspects of genetics and chemistry that haven’t been seen before.

“If you combine ECU’s drugs with our molecules, we’ve created new intellectual property that can extend the life of patents and add new value. It’s a scaffold for us to build upon,” UNCW’s Baden said. “Translational science – applying research in a real-world way – earns money from tax dollars and gives back to the American people.”

The process can also work in reverse, he said. If researchers know there’s a need for a certain type of medication that functions in a particular way, they can work toward finding a marine biotechnology solution to the problem. And that could create greater economic stability in the region by bringing new tools, collaborations and science jobs to eastern North Carolina, fueling further economic development.

UNCW is already on that path with its new translational science building, funded by the U.S. Department of Commerce and National Institute of Standards and Technology. The 69,000-square-foot space is the first of its type in the region, and it brings together, under one roof, researchers from a variety of scientific fields, making professional cooperations even easier.

“It’s a resource for North Carolina biotechnology, the UNC system and the state that goes beyond just the faculty and institutions working together – it includes students,” Baden said. “It’s about coming into a multidisciplinary, collaborative environment and developing relationships through big science, business and working with the right people to combine expertise and experiences to do things that weren’t possible before.“

To read the story at its original location: http://www.northcarolinahealthnews.org/2015/03/16/11680/

March 20, 2015 Posted by | Healthcare, Science | , , , , , , , , , , , | Leave a comment

Duke University team discovers a gene mutation tied to severe myopia

Published in the June 16, 2013 Raleigh News & Observer and Charlotte Observer

By Whitney L.J. Howell

When it comes to reading, teachers re-tell the same stories year after year. One student holds a book inches from his face and requests to sit in the front row. His sister seems perfectly content in a desk toward the back of class and can easily read papers at arm’s length.

It’s not uncommon for children to have varying degrees of eyesight. But is such a big difference normal among siblings?

The reasons why one child inherits a parent’s nearsightedness while another offspring has perfect vision have long been fuzzy. Now, new research out of Duke University is bringing some clarity to this puzzle.

Known clinically as myopia – and frequently blamed on significant time spent reading – nearsightedness is the most common eye disease affecting humans. Nearly 30 percent of American adults have myopia, according to the American Optometric Association. The condition occurs when the

A scene as it would appear to a person with myopia (nearsightedness). ( National Eye Institute/ National Institutes of Health) NATIONAL EYE INSTITUTE / NATIONAL INSTITUTES OF HEALTH

A scene as it would appear to a person with myopia (nearsightedness). ( National Eye Institute/ National Institutes of Health)
NATIONAL EYE INSTITUTE / NATIONAL INSTITUTES OF HEALTH

eye is either oval-shaped (rather than round) or the cornea – the transparent covering over the front of the eye – is too curved. In either case, the eye is unable to properly focus the light coming through the pupil.

The result is blurry vision, meaning a nearsighted person must stand closer to an object that a normal-sighted person in order to see it clearly. For example, a nearsighted person must stand 20 feet away from a street sign to see it as well as a normal-sighted person can at 40 feet.

But, according to research published in the American Journal of Human Genetics, the genetic cause behind myopia could now be a little clearer. Duke researchers found that a newly-identified genetic mutation that affects copper metabolism and oxygen regulation in eye tissue is a culprit in cases of severe myopia.

High-grade myopia is inherited and occurs most commonly in Asian cultures. But it also affects nearly 2 percent of nearsighted Americans, increasing their risks for additional eye problems, such as detached retinas, cataracts and glaucoma.

Several myopia-associated genes have already been discovered, but this one – SCO2 – is particularly important in the study of high-grade disease, said Terri Young, M.D., an ophthalmology, pediatrics, and medicine professor at Duke. When functioning properly, SCO2 helps metabolize copper, an element vital to controlling oxygen levels in eye tissue. A malfunctioning gene can allow oxygen levels to rise too high, increasing stress on the tissue. These high levels can, ultimately, alter the eye’s development and function, she said.

“This is the first time a gene mutation like this has been discovered,” she said. “It’s one found in cases of inherited severe myopia among Caucasians where only one parent carries the gene for the condition and where the nearsightedness isn’t associated with any other health conditions.”

Finding the mutation

To find genetic mutations common among individuals with high-grade myopia, Young and her colleagues within Duke’s Eye Center, Center for Human Genetics, and graduate medical school in Singapore analyzed DNA extracted from the blood and saliva of four individuals all from the same 11-member American family of European ancestry.

Her team used a new sequencing method – next-generation sequencing (NGS) – to produce large, more precise quantities of data. NGS enables researchers to sequence larger numbers of DNA pairs faster than when using the more traditional method, electrophoresis.

“Using next-generation sequencing, we were able to obtain more than 50 times the number of DNA copies than we would have through traditional sequencing,” she said. “It was because we had more copies that we knew what we were seeing with the mutation was real. That’s how we found the gene and discovered that the mutation was only present in people with myopia.”

The team also found three additional SCO2 genes mutations in an additional 140 people.

After identifying the SCO2 gene mutation in human eye tissue, researchers explored the gene’s expression in mice to further confirm their findings. They induced nearsightedness in otherwise normal-sighted, newborn mice by putting a translucent contact lens over one eye in each animal. After six weeks, they analyzed the eye tissue to see where SCO2 was most expressed, and in this case, mutated. By attaching a stain to the gene, they found these genes were most expressed in the retina – the tissue where the eye actually sees images – and the white, protective part of the eye called the sclera.

Combining the results from both human and mouse eye tissue analysis highlights the existing connection between low levels of copper in the body and eye disease, she said.

“What we’ve found – and what’s in pre-existing research – suggests that copper deficiencies could set people up to become nearsighted,” Young said. “We didn’t specifically test diets, but it’s possible that mineral- and vitamin-deficient diets could play a role.”

If that’s the case, she said, taking copper supplements could conceivably slow down or stop myopia’s development.

What’s next?

Even though malfunctioning SCO2 has a significant, negative impact on eyesight, it is likely a very rare mutation, Young said. So, rather than test for it alone, her group plans to add it to a panel of studies known myopia-associated genes.

Additional work is also ongoing, exploring the impact an SCO2 mutation could have outside of eye disease. According to Dennis J. Thiele, Ph.D., a pharmacology and cancer biology professor at Duke who wasn’t part of Young’s team, one of the SCO2 mutations is pivotal in a deadly form of cardiomyopathy, a condition that causes the heart muscle to weaken and eventually leads to heart failure.

Because this gene mutation can affect multiple body systems, it’s important for investigators to continue their explorations, said Gary Heiting, a practicing ophthalmologist in Minnesota, as well as the editor of All About Vision, an online eye-education publication. Knowing more about SCO2 will help scientists and doctors better understand how much of eye health is inherited and how much is cause by day-to-day activities.

“This new research is an important step in understanding what causes myopia to develop in some children and not others. But, it is just one step,” Heiting said. “Further research, including research in the areas of genetics, nutrition, reading behaviors, time spent indoors versus outdoors during childhood, and other factors, is needed before we will fully understand what causes myopia and what we can do to effectively reduce the incidence and prevalence of nearsightedness in the future.”

To read the story at its original News & Observer location:  http://www.newsobserver.com/2013/06/16/2959250/duke-university-team-discovers.html#storylink=cpy
To read the story at its Charlotte Observer location: http://www.charlotteobserver.com/2013/06/16/4102306/duke-university-team-discovers.html

 

June 19, 2013 Posted by | Family, Healthcare, Science | , , , , , , , , , , , , , , , , , , , , , , , , | Leave a comment

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