Francis Collins gave a great interview in the early 1990s when he described the Human Genome Project to Charlie Gibson on Good Morning America. If each piece of DNA were a letter, Collins said, there would be millions, and the human genome would fill enough books to reach the height of the Washington Monument. Completing the genome will lead to new discoveries, new cures, and his team will do it on time and under budget.
OK, so he took a geneticist’s license with the hard data. But the point he made to millions of Americans was that studying genes is important and people should support it. And, for the most part, the American public has. He took a topic totally foreign to most people, and a little scary to some (even today), and told us why we should embrace it. Some might say he inflated expectations; others might say he necessarily raised awareness.
Much has been written about Collins’ personal views on religion and science, and his early emphasis on ethics regarding the human genome. Less well known is the video above (with a nod to my UM friends), which says much about how well grounded the eminent scientist is.
Good luck with the nomination, Dr. Collins! We’ll look forward to writing again when you are confirmed.
But when is cancer screening clearly not a good idea? One example is ovarian cancer screening for women with no identifiable risk factors for the disease, according to UNC’s Dr. Daniel Clarke-Pearson, our chair of ob/gyn.
Part of the problem is that the only way to confirm a diagnosis of ovarian cancer is to surgically remove an ovary and test it in the lab. But one study suggests that up to 80 percent of women who have this surgery, based on abnormal ultrasound findings, don’t actually have cancer.
Clarke-Pearson recommends that ovarian cancer screenings should be done only on women who have a family history of breast or ovarian cancer, or who have symptoms consistent with ovarian cancer, or have the BRCA1 or BRCA2 gene mutation.
The good news here is that we know for sure who should be screened. And for those who aren’t in a high risk group, we can spare them from having major surgery they don’t need.
As a kid I loved the 4th of July for one reason — I got to play with fireworks. The antics my brother and I pulled were, well, with 30 years of hindsight, dumb, and we’re lucky we have all our digits.
Now I’ll remember the 4th for a phone call late last Saturday morning, a drive into work and the rest of the day spent with nurses, doctors and the news media, trying to learn details about the explosion of a semi truck filled with fireworks, and five people.
Martez Holland is the only survivor of that disaster. He and the others were unloading the usually controlled explosives, intended to create awe in the island crowds that night with rockets of starbursts and cascades of showers afire. Martez and his uncle, Terry, were flown that morning to UNC’s emergency department for care in the NC Jaycee Burn Center. Terry died at UNC hours later; another person died instantly, two others shortly after the blast. One witness said it was 40 minutes of fireworks set off in 4 seconds. The only awe was of the human frailty destroyed by the mechanism of a ritual admired for its beauty, and of lives extinguished in an instant.
Yesterday Martez spoke with reporters about his ordeal. He likely survived by the circumstance of his location — he was standing at the outside end of the truck while the others were in the middle. He heard a bang, he said. When he came to, he was lying by the paramedics.
His doctor, Samuel Jones, one of UNC’s two burn surgeons, explained that third-degree burns covered Holland’s forearms and hands, with less severe burns to his face and neck. One hand was at risk of losing its blood supply as the burn circumvented the arm above it. Bruce Cairns, director of the burn center, explained that burns like those his uncle sustained, which covered his entire body, are simply not survivable.
This is the second explosion-related disaster UNC has seen; the ConAgra plant explosion on June 9 sent 7 patients here. The NC Jaycee Burn Center is continually overflows, with the most crticial patients occupying the 21-bed ICU and patients who are less critical, as many as 20 at times, being cared for in other parts of UNC Hospitals.
Another firework casualty was 5-year-old Natalie Hunt, who lay quietly in her bed in the NC Children’s Hospital Tuesday as her nurse removed her IVs. Natalie’s dad, Anthony, was setting off fireworks with friends late the night of July 4. Natalie was the only child there, and when one of the cannisters tipped over, it sent a fireball straight into her chest. Her shirt just melted, Anthony said. Her mom, Danniell, rushed her into the house. Around 3 a.m. Sunday the family arrived, by ambulance, at UNC. Jones operated on her Monday to clean the third-degree burns that spread across the left side of her chest and along her left arm. She and her parents went home yesterday, but she’ll be back, many times, for follow-up care.
Massive explosions like the one Martez survived are rare, but the pain and horror they create rip through communities and a lifetime. Burns like the one Natalie has a much more common, and the pain and horror shorter, more contained. But, it will also last her lifetime, and she and her family, and the Hollands, will have their own indelible memories of the 4th.
A couple of weeks ago, Matthew McKinney, 14, and a few of his buddies were diving to the bottom of Hope Mills Lake to pick up big rocks.
Little did he or his family know that his swim would lead to a LOD (life or death) surgery at UNC, and the discovery of a rare immune disorder.
Chromobacterium violaceum (credit NIH) created a life-threatening reaction in Matthew McKinney
Days after diving, Matthew’s nose started hurting. He ran a fever over 103, for days. Doctors near his home in Fayetteville considered the symptoms to be relatively minor — a sinus infection. But when his teeth also began hurting — and falling out — and his face started swelling, they knew the condition was serious, and puzzling. So in the wee hours of June 22 Matthew was flown to the N.C. Children’s Hospital, under the care of a team of surgical and ID specialists, including Tom Belhorn, peds ID.
On the bottom of the lake, amid the muck and mire that blanketed the rocks Matthew retrieved, he stirred up a very common bacteria, Chromobacterium violaceum. If you’ve set foot on a lake bed in the SE U.S., you’ve also probably kicked up this microscopic bug without knowing it, Belhorn says. It’s rare that anyone reacts to it, which is why his first doctors didn’t realize it was the cause of his pain, infecting the flesh in his face.
At UNC, the medical staff worked quickly to identify the bacteria and halt its advance in Matthew. Half of his nose and half of the roof of his mouth had to be removed. But another stone was turned; the young man’s infectious response was likely due to a form of a rare immune disorder, chronic granulomatous disease, that let his body’s guard down and vulnerable to the C violaceum.
Matthew is doing well now. He’s a tough kid. His family says throughout the pain, and under sedation, he kept wanting details about his condition and his care, scribbling a word or two or pointing to communicate. Now he’s talking, as best he can. His father, Air Force Tech Sgt. Brian McKinney, knows his son almost died. But he’s the epitome of positive attitude, and has givenseveral interviews to local TV stations and the Fayetteville Observer.
Officially, Matthew’s condition is “fair.” Unofficially, it’s closer to “amazing.”
* This post was edited at 9:20 a.m. Monday, June 29, to more accurately reflect the medical team involved in Matthew’s care and the name of chronic granulomatous disease.
Did you catch the new HawthoRNe episode last night? My childhood crush Malcolm Jamal Warner was rushed into the emergency department. A scan showed he had an aneurysm that doctors feared would burst and kill him. Doctors debated which approach would be best for him; the traditional crainiotomy or a coiling method. “A crainiotomy is too invasive,” one doctor stated. While the other protested that the coiling method was too risky a chance to take to get at the aneurysm. The entire time, I am yelling at the television, “Go up through the nose!”
That’s exactly what Dr. Anand Germanwala, a UNC neurosurgeon did with one of his patients. She wasn’t just any patient. She was a young woman who is the sole provider for herself and her small children. While having breakfast one October morning, she experienced an excruciating headache. She blacked out and was rushed to the emergency department. Before she knew it, she was being told that she had two brain aneurysms, one of which burst.
Of course each brain aneurysm is different, so how it is treated is different. In Alfreda Cordero’s case, there were options. But the option that Dr. Germanwala presented was an unusal one for clipping off a ruptured brain aneursym. It was an endoscopic endonasal approach. Essentially that means Germanwala would go up through Cordero’s nose and into her nasal passages to access the brain. Once there, he and his team would locate the aneurysms, clip them and then retreat. Traditional surgical clipping or a crainiotomy would have required Cordero to have the top portion of her skull removed. Cordero gave Germanwala the thumbs up to do the endonasal method, making her the first ever reported case for treating a ruptured brain aneurysm in this way. You can see more about the story here.
Nearly eight months out of surgery, Cordero is doing well. She can hardly believe she had an aneurysm, let alone believe she may have helped make history within the field of neurosurgery.
As for Malcolm Jamal Warner, I’ll probably see him next week on CSI dusting for fingerprints in a mindboggling mystery.
The feds say that resident physicians — those toiling to learn a specialty, between med school and hanging up their own shingle — can work only 80 hours a week.
So, for 80 hours a week, Dr. Cathleen Sybert dons her scrubs and clogs and cares for patients in the N. C. Jaycee Burn Center. She’s almost finished with a 13-week rotation through the center, in her third of five years inthe UNCgeneral surgery residency program.
Sybert’s role as a trainee far exceeds the stereotypical schlepping you might see on TV. She is the chief resident, in charge of overseeing the patients’ care. She takes a lot of orders, but also gives them to staff. And she’s a trainer of interns (whose role is closer to the stereotypical schlepping you might see on TV).
For the video above, Stephanie and I caught up with Dr. Sybert earlier today and asked about the care of survivors from burns like those suffered by the survivors of the ConAgra explosion, four of whom remain in critical condition. She also told us what it’s like to be a resident at UNC, how surgery for burn patients differs from all others, and she remembers where she was the day of the disaster.
Nurses new to a burn unit know fairly quickly whether or not it’s the kind of environment where they want to work. Many don’t last a year or so. Among those who stay, it’s not uncommon for them to spend a career there. The work is physically demanding, patients are in critical care with multiple potential complications, and the effects to patients and families can be dramatic, and heart wrenching.
Grace Schmits manages the NC Jaycee Burn Center corps of nurses. In our YouTube, Medical News Update interview today she spoke about the survivors from the Slim Jim, ConAgra explosion, and about what her nurses face daily.
Dr. Bruce Cairns, director of the center, talks more about inhalation injuries. It has been reported that a strong scent of ammonia was present in the plant after the explosion. The effects of breathing that aerosolized chemical, and others in the air, are now starting to manifest, creating challenges for the medical team beyond wound care.
There are no burn victims. There are burn survivors. This, says Dr. Bruce Cairns, director of the N.C. Jaycee Burn Center at UNC Hospitals, is a mantra among those who have, quite literally, been through the fire.
Today we still have seven burn survivors from the Slim Jim, ConAgra plant explosion yesterday. On Day 2, swelling from the initial trauma has slowed or halted, providing a better assessment of burn injuries, better guiding the remarkable care provided by nurses, therapists, residents, giving a green light for some patients to go to the OR. In the less-severe cases it might begin to subside. Bronchoscopes explore the airways to check for changes that might have stemmed from chemical exposure.
As often as care providers work at the bedside, others are talking with family members, updating them on progress, educating them about the next steps, hosting representatives from the corporation.
Cathy Calvert is one of very few rehabilitation counselors in the country who works with burn patients. This 20-year veteran’s countenance is a magical, effective elixir: empathetic, being soft spoken, and being determined to get what’s best for her patients. Ensuring as many patients – and their familes — in her care as possible remain survivors.
An explosion late Tuesday morning at the Slim Jim factory in Garner, N.C., near Raleigh, collapsed the roof and started a fire. At least 20 people were injured and taken to hospitals. Because UNC has the region’s burn center, the most severe, four of them, came our way. Another three were transferred here from UNC’s Rex Healthcare.
Family members can call 919-966-5006 for more information.
Just an hour earlier, these folks were pulling their shifts on the factory floor, looking forward to the lunch hour. Then, literally, boom.
Trauma bays in the emergency department filled with doctors, nurses, x-ray techs, swarming in and out, stabilizing patients, finding beds, checking forms.
In the burn center nurses cared for patients and the dozens of family and friends who arrived to show support and swelled from the small waiting room into the corridors. Recreational therapists helped explain the injuries and care to children. Social workers become instant advocates for people they’d never met.
Burns create waves of traumatic emotions. The only minor burn, Bruce Cairns, the burn unit director says, is on someone else. The injuries can be disfiguring, disturbing. But they also smolder in the body, and can be more serious as the days progress, becoming more susceptible to infections.
Even burns that cover a relatively small area can require surgery to clean the wound and apply a skin graft. A burn, after all, is an injury that exposes the body normally covered by layers of skin and tissue. Patients can stay months, spending time in a deep medical sleep while their bodies heal, then awake to the intense and painful rehab.
Four of the patients we received last night have burns over 40-50%; some of the minor burns are to the face. And, there are other injuries resulting from a collapsing building. Cairns and colleagues will spend hours in the OR today, and time with families explaining the circumstances.
Yesterday, Dr. Charles Cairns, Bruce’s brother and chair of emergency medicine at UNC, where the patients went first, talked with reporters over the phone (CNN,AP,WRAL) about the uncertain nature of burns.
Parents of children with autism often are at wits’ end, searching for ways to help their children and provide some peace for themselves.
Physicians can be empathetic, and, without proof that any medication clearly provides relief, do their best. That often includes prescribing a drug called citalopram to reduce the occurrence of repetitive behaviors that accompany autism.
Now, however, there is clear data that might help guide medical decisions, but it’s not what researchers expected. Citalopram, the scientific name of the drug Celexa, did not relieve these symptoms any better than placebo. In fact, the behaviors increased in some children on the drug. We explain more in our news story.
Linmarie Sikich led the trial of the blinded, placebo-controlled study at UNC and was a co-author with colleagues at the University of Washington and five other medical centers on a study published in today’s Archives of General Psychiatry.
“I cannot emphasize this enough: This was not at all what we expected to see,” Sikich said.
But, lest parents despair, the results might help physicians and their patients find other solutions faster. It is, at least, one answer in the autism puzzle. She explains the findings in this video.
On Wednesday, July 8, Francis S. Collins, M.D., Ph.D., physician and geneticist, and an alumnus of the University of North Carolina at Chapel Hill School of Medicine, was nominated by President Barack Obama to be director of the National Institutes of Health.
