DiversityNursing Blog

Preterm Birth Alters Brain Connections Linked To Cognitive Functioning, Study finds

Posted by Erica Bettencourt

Tue, May 05, 2015 @ 12:00 PM

Written by Honor Whiteman

www.medicalnewstoday.com 

preterm baby resized 600Infants born preterm are known to be at greater risk for neurodevelopmental disorders. Now, a new study by researchers from King's College London in the UK brings us closer to understanding why - premature birth reduces connectivity in brain regions linked to cognitive functioning.

First author Dr. Hilary Toulmin, of the Centre for the Developing Brain at King's College, and colleagues publish their findings in the Proceedings of the National Academy of Sciences.

Preterm birth - defined as the birth of an infant before 37 weeks gestation - affected more than 450,000 babies in the US in 2012.

It is a leading cause of neurological disability among children in the US. Babies born preterm are at higher risk of cerebral palsy, autism and attention-deficit hyperactivity disorder (ADHD), among other intellectual and developmental conditions.

For their study, Dr. Toulmin and colleagues set out to gain a better understanding of the brain connectivity among babies born preterm in an attempt to uncover clues as to why preterm babies are more likely to develop neurodevelopmental problems.

The researchers used functional magnetic resonance imaging (fMRI) to analyze the connectivity between two specific brain regions - the thalamus and the cortex - among 66 infants. Of these, 47 were born prior to 33 weeks gestation and 19 were born at full term - between 37 and 42 weeks gestation.

The team says they focused on the connectivity between the thalamus and the cortex because these are the brain connections that develop quickly during preterm infants' care in neonatal units.

Preemies showed reduced connectivity in brain area linked to higher cognitive functioning

Among the babies born at full term, the researchers found the connectivity between the thalamus and the cortex was very similar to that of adults, which the researchers say supports previous findings that infants are born with mature brain connections.

Among the preterm infants, however, the team identified reduced connectivity between areas of the thalamus and areas of the cortex associated with higher cognitive function. This may explain why preterm babies are at greater risk of neurodevelopmental problems later in childhood, say the researchers.

What is more, brain scans of the preterm infants revealed increased connectivity between the thalamus and an area of the primary sensory cortex that plays a role in processing signals from the face, lips, jaw, tongue and throat.

Preterm infants' earlier exposure to breastfeeding and bottle feeding may explain this finding, according to the team.

The team says the earlier a preterm baby was born, the more pronounced the differences were in brain connectivity.

Overall, the team believes their findings bring us a step closer to understanding why infants born preterm are at higher risk of neurodevelopmental problems.

Senior author Prof. David Edwards, also of the Centre for the Developing Brain at King's College, says modern science has allowed the team to assess brain connectivity among preterm infants - something he says would have been "inconceivable" only a few years ago.

"We are now able to observe brain development in babies as they grow, and this is likely to produce remarkable benefits for medicine," he adds.

Dr. Toulmin says the next steps from this research will be to gain a better understanding of how their findings are associated with learning and developmental problems among preterm children as they get older.

Topics: birth, newborn, health, healthcare, brain, nurses, doctors, medical, hospital, treatment, NICU, health studies, preterm birth, cognitive functioning

Triage And Treatment: Untold Health Stories From Baltimore's Unrest

Posted by Erica Bettencourt

Tue, May 05, 2015 @ 11:28 AM

LEANA WEN

www.npr.org 

balto cvs e23a995f198933efd10610d8a1c39b0ac803594d s800 c85 resized 600Over the last week, Baltimore's unrest has captured the nation's attention. Images of burning cars, the sounds of angry protesters and then peace rallies have dominated the airwaves and headlines.

As the city's health commissioner, I heard other stories. I spoke with a 62-year-old woman who had a heart attack a year ago and who had stopped taking her blood pressure and blood-thinning medications. Her pharmacy was one of the dozen that burned down, and neither she nor the other people in her senior housing building could figure out where to get their prescriptions filled. Her pills ran out two days before, and she'd planned to hold out until the pharmacy reopened.

A 55-year-old man called our health department. His mother was "stringing out" her inhalers and now had a cough and difficulty breathing. He also told us he had difficult-to-control diabetes and was using insulin every other day. He now was urinating frequently and reported blurry vision — symptoms of out-of-control diabetes. We called an ambulance to transport them both to the ER.

In the wake of fires and violence, the initial priority for health officials was to make sure that our acute care hospitals were protected and that staff and patients could get to them safely. In the immediate aftermath, our focus was on ensuring that injured patients got triaged and treated.

Nobody knew what lay ahead and how much more violence was to be expected. We worked with hospitals, the Fire Department, and other city and state partners to develop a hospital security plan and to convene daily phone calls with every hospital and health clinic.

As the days went on, we heard from more Baltimoreans. These were not the ones waving signs or appearing on national TV. These were people who were just trying to get by.

There was a 74-year-old woman who had abdominal pain for two days. She stayed in her apartment and put up with the pain rather than seeking care, because she thought she'd heard that her health center was closed. A middle-aged couple worried about their 22-year old son who was suffering from a manic episode. They didn't know who was available to help.

Our health department, under the leadership of Mayor Rawlings-Blake, worked with the Maryland health department and private partners around the city and state to provide these essential services. We set up the Baltimore Healthcare Access List to provide up-to-date and accurate information about closures and hours of operation for hospitals, clinics and pharmacies. We developed and implemented a Mental Health/Recovery Plan that included an around-the-clock mental health crisis line along with teams of licensed mental health professionals who were deployed in affected neighborhoods for group counseling and debriefing.

Things that seemed straightforward often were not. Transferring prescriptions from one pharmacy to another would seem easy. But what happens if the pharmacies are in different chains, or if the one that closed was an independent pharmacy where all records were destroyed? The nearest pharmacy may be just a few blocks away, but what if the patient has limited mobility and even a few blocks are prohibitive?

And, as we saw, what happens when the best-laid plans aren't known to residents? We arranged for individuals affected by pharmacy closures to call one central number — 311. Our health department team would then take care of the rest on a case-by-case basis, arranging for prescription transfers, transportation and medication delivery.

Amid all the news, our public health information wasn't getting through to all our community members. So we mobilized student volunteers from Johns Hopkins and other local universities to go door-to-door in all senior buildings in affected neighborhoods. We visited over 30 churches and knocked on hundreds of doors.

It is now a week after the initial wave of violence and unrest. Our city is quieter, but our work is nowhere near done. As we look to rebuilding and recovery, our efforts must be focused on addressing the needs of all those affected, including the ones whose stories we don't usually hear.

Topics: prescription, health, healthcare, nurses, doctors, patients, hospital, medicine, patient, treatment, triage, health department, medical staff, Baltimore, protests

Tutu Tuesday Brings Smiles to Florida Children's Hospital

Posted by Erica Bettencourt

Mon, May 04, 2015 @ 12:39 PM

By FREIDA FRISARO

http://abcnews.go.com 

WireAP 81568d5fb53a4d3cb4394b05626b814e 16x9 992 resized 600One morning last summer, Tony Smith slipped a multicolor tutu over his scrubs in the pre-op ward of a South Florida hospital to grant the wish of a young patient heading to surgery.

A photo of the tutu-clad Smith quickly became a hit online and within weeks, Tutu Tuesday was born at Joe DiMaggio Children's Hospital.

"That day, it was all about making a patient feel comfortable. Having me put on the tutu made her feel better," said Smith, an operating room assistant who has worked at the Hollywood, Florida, hospital for almost five years. "I never knew I would have that much impact. I didn't expect it to go viral."

But it did. Once employees saw the shot, they started asking Lotsy Dotsy — resident clown and unofficial keeper of the tutu — for their own frilly skirts to wear. Department by department, hospital staff adopted Tutu Tuesday.

It begins outside the hospital named for a baseball legend, where visitors are greeted by a valet whose tutu clashes with his normal uniform — shorts and a baseball jersey.

"People laugh and ask why I'm wearing a skirt," said John Aristizabal, who takes good-natured kidding as he parks cars. "It's all for the kids, to catch a smile."

On Tutu Tuesday, smiles are contagious.

Inside the hospital, tutus are everywhere. Doctors, nurses, technicians and receptionists don the colorful layers of tulle, decorated with polka dots and fancy bows as they go about the business of tending to patients. Even Nutmeg, the in-house therapy dog, has a specially designed pink tutu. Hospital administrators also play along, wearing tutus over their business suits.

Smith said he could have never imagined that such a simple act would catch on.

"It's for the patients," Smith said. "Just seeing you in a tutu brightens their day, and it can keep them from thinking about what's really going on."

That's exactly what pediatric anesthesiologist Dr. Bob Kaye has been doing for years. He's worn a variety of funny hats and wigs to help ease the fears of his young patients. Now he's added a tutu to his routine and has found that his patients and their parents like the distraction.

"If you can dress in a way that it not threatening and silly, maybe, and make the medical professional look not like the last person who gave them a shot in the doctor's office, then it's a lot easier to feel comfortable with them," he said. "I think it's an ice breaker."

On a Tuesday morning in March, Laurel Barnett and her 13-year-old daughter Julia arrived about 5:45 a.m. for surgery.

"Of course, not having any coffee and then coming in and seeing everyone in tutus is quite amusing," Barnett said. "It's not what you expected to see. It does give children a sense of relief that these people are not only here to help them, but there to have fun as well. It kind of takes their mind off of things."

Smith says he's not bothered at all by the stares and giggles as he makes his way through the hospital's corridors every Tuesday. He even offered his tutu to 12-year-old Brayden Wilmsmeyer, who along with his 10-year twin sisters Leah and Lexi spent spring break getting respiratory treatment at Joe DiMaggio.

The twins had borrowed tutus from two nurses for an impromptu photo session.

"Remember, you are a real man," Smith told Brayden as he pulled the tutu over his pants. "Don't let anyone tell you otherwise just because you're wearing a tutu."

Topics: health, healthcare, nurses, doctors, children, medical, patients, hospital, treatment, children's hospital, medical staff

Lives Of Three Babies Rescued By 3D-Printed, Growth-Flexible Implants

Posted by Erica Bettencourt

Fri, May 01, 2015 @ 11:46 AM

Written by Markus MacGill

www.medicalnewstoday.com 

kaiba gionfriddo resized 6003D printing has come to the rescue of severe cases of a childhood disease in which the windpipe is softened, leading to collapse of the airway and breathing failure. Previously lacking any adequate intervention, tracheobronchomalacia has found an innovative fix in three babies whose condition presented them with little chance of reaching young childhood.

Researchers at the University of Michigan's C.S. Mott Children's Hospital in Ann Arbor say the three boys have become the "first in the world to benefit from groundbreaking 3D-printed devices" to stent their airways in such a way as to allow the supports to keep up with their growth.

A follow-up of all three patients published in the journal Science Translational Medicine shows the personalized bioresorbable splint implants have worked with "promising results."

Pediatric tracheobronchomalacia (TBM) sees excessive collapse of the airways during breathing that can lead to life-threatening cardiopulmonary arrests (halted heart and breathing).

The cartilage supporting the airway can strengthen as children with the condition grow, the study paper goes on to explain, but severe cases of the disease require aggressive treatment - and those children are at "imminent risk of death."

Before this new approach to provide an early treatment option for TBM, the only conventional therapies available also carried life-threatening complications of their own.

Babies needed tracheostomy tube placement with mechanical ventilation, requiring prolonged hospitalization, and complications often led to cardiac and respiratory arrest. For example, the rate of respiratory arrest owing to tube occlusion runs as high as 43% of pediatric tracheostomy procedures a year.

Survivors: Kaiba, Ian and Garrett

But none of the newly developed 3D-printed devices have caused any complications for the three children treated, including Kaiba, who at 3 months old was the first to receive the new technology, 3 years ago. The stents were also inserted into 5-month-old Ian and 16-month-old Garrett.

Designed to accommodate airway growth while preventing external compression over a period of time before bioresorption, the technology allows for the particular problem of radial expansion of the airway over the critical period of growth. "If a child can be supported through the first 24 to 36 months of tracheobronchomalacia, airway growth generally results in a natural resolution of this disease," write the authors.

Senior author Dr. Glenn Green, associate professor of pediatric otolaryngology at C.S. Mott, says: "Before this procedure, babies with severe tracheobronchomalacia had little chance of surviving. Today, our first patient Kaiba is an active, healthy 3-year-old in preschool with a bright future." Dr. Green adds:

 

"The device worked better than we could have ever imagined. We have been able to successfully replicate this procedure and have been watching patients closely to see whether the device is doing what it was intended to do.

We found that this treatment continues to prove to be a promising option for children facing this life-threatening condition that has no cure."

 

Dr. Green describes in the video below how he and his colleagues at the University of Michigan worked on finding the solution.


Dr. Green strives enthusiastically for the lives of babies born with the condition, which he says in a post on the hospital's Hail to the little victors blog is often misdiagnosed as treatment-resistant asthma. He adds that it is a rare congenital condition affecting about 1 in 2,200 births, and the severe cases are even rarer, with most children growing out of the milder cases by 2 or 3 years of age.

"Kaiba's parents, April and Bryan, were left watching helplessly each time he stopped breathing, praying that something would change and doctors' predictions that he would never leave the hospital again weren't true," writes Dr. Green in 2013.

The 3D-printed splints were computational image-based designed to be customizable so that the following parameters could be made bespoke to the individual patient's anatomy on "the submillimeter scale:"

  • Inner diameter, length and wall thickness of the device
  • Number and spacing of suture holes.

Not being a closed cylinder, the design of the tubes gave an opening to allow placement but also expansion of the radius as the airways grew. All the inserts placed around the airways were made of polycaprolactone, a polymer that harmlessly dissolves in the body at a rate to allow the technology time to support the growing cartilage.

For Garrett's bespoke device on his left bronchus, the opening had a spiral shape to it, to allow a device to be fitted concurrently around, and grow with, his right bronchus, too.

Freedom from intensive care treatments

The Michigan team also share findings showing that the success of the devices meant the young children were able to come off of ventilators and no longer needed paralytic, narcotic and sedating drugs.

There were improvements in multiple organ systems and problems that had prevented the babies from absorbing food, so now they could be free of intravenous therapy.

The research doctors had received urgent approval from the US Food and Drug Administration to do the procedures, but it is early days for the strategy to become routine for babies with TBM. The case report published today was not designed to test the safety of the devices - so it may yet be possible that rare complications are found to result from treatment in some cases. Dr. Green says:

"The potential of 3D-printed medical devices to improve outcomes for patients is clear, but we need more data to implement this procedure in medical practice."

The specialist surgeon performing the operations, Dr. Richard Ohye, head of pediatric cardiovascular surgery at C.S. Mott, believes the cases provide the groundwork for a potential clinical trial in children with less-severe forms of TBM.


Topics: 3-D printing, medical technology, health, healthcare, children, medical, patients, hospital, patient, treatment, babies, TBM

'Bubble girl' Is Allergic To Life

Posted by Erica Bettencourt

Fri, May 01, 2015 @ 11:31 AM

By Jacque Wilson and Deborah Brunswick

www.cnn.com 

150429173910 orig allergic to life brynn duncan mast cell activation syndrome 00010110 large 169 resized 600The cracker or the bite of ice cream -- Brynn Duncan still isn't sure which one sent her into anaphylactic shock that day. Her food allergies change so frequently, keeping track is almost pointless. 

It was just another day with another massive allergic reaction. 

She can always tell when one is coming on. "I just get this overwhelming sense of -- they call it impending doom." Her labradoodle, Moose, starts alerting, licking her hands frantically.

"I'll feel like I'm being stabbed in the stomach, and then it gets hard to breathe and my throat and tongue start swelling. And we have to treat it really fast." 

On that particular day in March, multiple EpiPens didn't slow the reaction. The paramedics who arrived to take Brynn to Greenville Memorial Hospital, or "Hotel Greenville" as she likes to call it, knew her well. When she asked for her security blanket, they knew to hand her her smartphone.

"New day, new crisis," Brynn quips as she tells the story, as if it's about her first day of college or a shopping trip gone wrong. It might as well be. When you're allergic to life, a near-death experience is no big deal. 

Center of attention

Less than a week after her trip to the hospital, Brynn, 21, is back at home in Easley, South Carolina. She lies on her back, her head near the foot of her bed, chattering away as her mom changes the access to her chest port. 

Melissa Duncan, a paralegal by day, dons a mask and surgical gloves before disinfecting the area around the tube that's connected to Brynn's jugular vein. The disinfectant burns, and Brynn's blood pressure hits 150/102. Her heart rate rockets to 128. 

"The meds we have to give her to keep her alive, she reacts to," Melissa says, shaking her head. "Never in a million years did I think I would be doing this. "

Brynn was seemingly a normal kid -- until she wasn't. Yes, she was a fussy baby. Yes, she got sick often as a child, Melissa muses out loud -- but what kid doesn't? Brynn was also incredibly energetic, always the center of attention. Her father, Barry, jokingly rues the day she learned to talk. She started taekwondo at the age of 9 and had her black belt by the time she was 11. That was the same year doctors diagnosed Brynn with IBS, or irritable bowel syndrome. 

"She's always been --" Melissa Duncan pauses. 

"High maintenance!" Brynn fills in with a laugh. 

It wasn't until shortly before her 16th birthday in 2010 that Brynn had her first serious allergic reaction. The next two years became a blur of sick days and doctors' appointments.

Brynn saw specialist after specialist. The gastrointestinologist diagnosed her with gastroparesis, or partial paralysis of the stomach muscles. A cardiologist said she had POTS, or Postural Orthostatic Tachycardia Syndrome -- meaning that when she stood up for longer than a few minutes, her blood pressure dropped, leaving her light-headed and nauseated. A Wake Forest doctor diagnosed her with Ehlers-Danlos syndrome, a connective tissue disorder that causes fragile skin and overly flexible joints. 

After doing hours of research, Melissa, Barry and Brynn came up with their own diagnosis: mast cell disease. They found a specialist online, Dr. Lawrence Afrin, who at the time was working in Charleston. They waited nearly nine months to see him, but hearing him confirm their suspicions was life-changing.

Mast cells are the regulators of your immune system. They're the ones that release histamine when a bug bites, or when you come into contact with an allergen. They basically sound the alarm that lets the rest of your immune system know something is wrong.

Until recently, the only mast cell disease doctors had identified was mastocytosis, which is characterized by "abnormal proliferation and activation" of the body's mast cells -- meaning there are way too many and they act in strange ways. 

But in the last few years doctors such as Afrin have started to recognize that there are many different layers to mast cell disease. For instance, Brynn has mast cell activation syndrome, meaning her mast cells act strangely, but they're not growing in number. 

"It's like I'm living in a 24/7 allergic reaction," Brynn explains simply. 

Fruit, vegetables, milk, soy, nuts, smoke, perfume, the sun -- you name it, Brynn is allergic to it. But it's not really about the specifics; the allergens change depending on how "angry" her mast cells are that day, she says. On good days, she can eat small amounts of plain meat or mashed potatoes. On bad days, even using her feeding tube causes her extreme pain. 

Not everyone with mast cell activation syndrome has it as bad as Brynn does. "Oh God, no," Afrin says when asked. "No, no, no, no." 

But mast cells are located in your connective tissue, including your skin and the lining of your stomach and intestine. They can affect every system in the body, Afrin says, so the disease is capable of causing all the symptoms Brynn experiences.

You have to ask yourself, he says: "Is this poor patient so uniquely unlucky to have acquired so many different, independent problems? Or is it more likely that there is just one thing going on?"

Of course, having a diagnosis didn't make living with mast cell disease any easier. 

In 2012, Brynn was admitted to the hospital 30 times. She started having seizures and episodes of dystonia -- painful, violent muscle contractions that are "scary to see and scary to experience." On multiple occasions, doctors have had to put casts on her legs to prevent her joints from bending in the wrong direction.

"I've seen doctors and nurses step back, kind of like 'What is this?'" Barry Duncan says. 

Every time she went to the ER, Brynn was given a large dose of steroids to calm the inflammation. She's now steroid dependent -- and likely will be for life. 

"We could be here for days, and you still would not understand all the inner workings of Brynn and all of her medical issues," Melissa Duncan says. "But I think the underlying one is the mast cell disease, which is a beast, and continues to become a bigger beast, day by day."

 Living in a bubble

Brynn spent her 19th birthday in the hospital. An allergic reaction made her miss a zip lining trip for her 20th. On December 31, her 21st birthday, when many young adults would be out celebrating the legal drinking age with friends, she was at home still recuperating from Christmas. She had joined the holiday festivities by eating a special pizza -- made with fake bread and fake cheese. 

"It's nasty," Barry Duncan says with a laugh. "It's the worst pizza you've ever tasted." But "for her, the worst pizza you've ever had ... tastes really good."

Brynn dreams about real stuffed crust pizza sometimes. And mozzarella sticks. Occasionally she lets her spunky attitude drop, and you see that she understands the effect her illness has on those around her. 

Her parents have spent weeks sleeping in cramped hospital chairs. Her younger siblings have missed vacations and school ceremonies; they've learned how to inject Brynn with an EpiPen, and how to hold her limbs still during a dystonia episode. 

"There's a lot of guilt that goes along with having a chronic illness," Brynn says. "You feel like a burden. And people can tell you you're not, but no matter what, in your head, you feel that you are."

She has moments when she gets jealous of her high school friends who are doing all the things she can't -- attending college, moving out, finding boyfriends. She and her new friends, others with chronic illnesses she met online, have a saying: "Single and ready to mingle -- as long as you have good health insurance."

And with a giggle, the dark moment passes. Skyping with her friends keeps her spirits up. She's prolific on Instagram, with more than 5,300 followers, and writes regularly on her blog, which is called "Brynn's Bubble." 

"A lot of people with this disease ... do, in a sense, have to live in a bubble, because it's really difficult to get the symptoms under control," Brynn says. "You spend a lot of time alone. And it can be very isolating. But thanks to social media, I haven't felt alone."

Over the last two years, Brynn and her family have made progress in managing her disease. She was one of the first patients in the nation to be put on a continuous IV of antihistamine. Intravenous immune globulin, or IVIG, therapy, when a healthy donor's plasma is used to boost a patient's immune system, cut in half the number of drugs she needs. 

Of course, she still needs a lot -- a compounding pharmacy delivers a box to her house once or twice a week. The meds make her brain foggy. She punctuates conversations with "Where'd that thought go?" But that doesn't stop her from talking. She plans to keep talking until mast cell disease receives the attention she feels it deserves. 

"'You don't look sick' -- that's one of the comments that I get a lot. Or they say, 'At least it's not cancer,' and that's another hard one, because these illnesses can be just as devastating," Brynn says. "The difference is they're not understood. And the only way to change that is to somehow bring awareness to it."

Early in her taekwondo career, Brynn's instructor told her that she could win a match before it even began -- just by staring down the opponent. She plans to fight mast cell disease the same way.

 


Topics: allergies, health, healthcare, medical, hospital, patient, treatment, mast cells, allergic, EpiPens, mast cell disease

Girl Who Was Paralyzed Surprises Her Favorite Nurse By Walking

Posted by Erica Bettencourt

Thu, Apr 23, 2015 @ 09:40 AM

http://myfox8.com

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 If you ever needed any evidence that nurses care vastly about every single patient they encounter, this is it.

A video posted last week on Facebook shows a nurse reacting as one of her patients stands up for the first time in 11 days.

The story as, posted by Texas mom Becky Miller:

“Our daughter, Bailey, had complete paralysis from the waist down for 11 days with no explanation as to why. This video is one of her favorite nurses coming onto her shift and not knowing that Bailey had started walking this day.”

The nurse immediately bursts into tears upon seeing Bailey, screaming, “Thank you, Lord.”

Miller said Bailey had no feeling or movement in her legs the day before. Doctors did not know what caused Bailey to lose feeling in her legs.

Commenters on Reddit immediately took the opportunity to commend nurses, and all of the work and long hours they put in daily.

“Nurses are great people,” one commenter wrote. “You’d have to be humanitarian to be a nurse.”

Topics: paralyzed, health, healthcare, nurse, nurses, medical, hospital, patient, treatment

New Genetic Tests for Breast Cancer Hold Promise

Posted by Erica Bettencourt

Wed, Apr 22, 2015 @ 02:34 PM

By ANDREW POLLACK

www.nytimes.com 

A Silicon Valley start-up with some big-name backers is threatening to upend genetic screening for breast and ovarian cancer by offering a test on a sample of saliva that is so inexpensiv e that most women could get it.

At the same time, the nation’s two largest clinical laboratories, Quest Diagnostics and LabCorp, normally bitter rivals, are joining with French researchers to pool their data to better interpret mutations in the two main breast cancer risk genes, known as BRCA1 and BRCA2. Other companies and laboratories are being invited to join the effort, called BRCA Share.

The announcements being made on Tuesday, although coincidental in their timing, speak to the surge in competition in genetic risk screening for cancer since 2013, when the Supreme Court invalidated the gene patents that gave Myriad Genetics a monopoly on BRCA testing.

The field has also been propelled by the actress and filmmaker Angelina Jolie, who has a BRCA1 mutation and has written about her own decision to have her breasts, ovaries and fallopian tubes removed to sharply reduce her risk of developing cancer.

But the issue of who should be tested remains controversial. The effort of the start-up, Color Genomics, to “democratize access to genetic testing,” in the words of the chief executive, Elad Gil, is generating concern among some experts.

The company plans to charge $249 for an analysis of BRCA1 and BRCA2, plus 17 other cancer-risk genes. That is one tenth the price of many tests now on the market.

Testing of the BRCA genes has generally been limited by medical guidelines to women who already have cancer or those with a family history of breast or ovarian cancers. Insurers generally have not paid for BRCA tests for other women, and some insurers are not paying at all for a newer type of screening known as a panel test that analyzes from 10 to 40 genes at once.

Dr. Gil of Color said his company’s test would be inexpensive enough for women to pay out of pocket, so that neither the woman nor Color will have to deal with insurance companies. He said the company was starting a program to provide free testing to women who cannot afford its test.

Advertisement

One of the company’s unpaid advisers is Mary-Claire King, the University of Washington geneticist whose work led to the discovery of the BRCA1 gene. Dr. King last year publicly called for testing to be offered to all American women 30 and older.

She said that half the women with dangerous mutations would not qualify for testing under current guidelines, in part because many inherit the mutation from their fathers rather than their mothers and a family history of breast or ovarian cancer might not be evident.

21JP BREAST articleLarge resized 600

But other experts say that fewer women in the expanded group would be found to have dangerous mutations, raising the overall cost of testing per cancer case prevented. Moreover, expanded testing could result in many more women being told they have mutations that cannot be classified as either dangerous or benign, leaving women in a state of limbo as to whether they have an increased risk of cancer.

“We have to be careful that we are not just increasing this group of worried-well who have incomplete information,” said Dr. Kenneth Offit, chief of the clinical genetics service at the Memorial Sloan Kettering Cancer Center.

Dr. Offit said it was contradictory that Color was trying to expand testing to everyone on the same day the two biggest testing companies were joining forces to try to reduce how often they find these so-called variants of uncertain significance.

Color is planning to allow women to order tests through its website. Another Silicon Valley start-up that did that, 23andMe, had its health testing shut down in 2013 by the Food and Drug Administration.

Color executives say that unlike with 23andMe, a doctor will be involved in every order and in the test results. If a consumer orders the test directly from its website, her information will be sent to a doctor hired by the company to evaluate it.

An F.D.A. spokeswoman said that if doctors place orders, testing companies that operate their own laboratories do not need F.D.A. approval to offer their tests.

Some testing experts question whether Color can provide testing as inexpensively as it claims. While the actual sequencing might be done for less than $250, that is only part of the cost, which also involves interpretation and working with patients and doctors, they say. Other companies generally charge at least $1,500 for complete analyses of the BRCA genes or for multigene tests.

But Dr. Gil said Color has highly automated its processes and will even offer genetic counseling to women. He said the company chose the saliva test rather than a blood one because it’s easier for users but still accurate. Women send the saliva sample to Color for testing.

Dr. Gil received a doctoral degree in biology at the Massachusetts Institute of Technology, studying a cancer gene. But he has spent much of his career at Google and Twitter. The company’s president, Othman Laraki, also worked at Google and Twitter.

Color’s backers — it says it has raised about $15 million — are mainly from the world of high tech rather than life sciences. Its lead investors are the venture capital firms Khosla Ventures and Formation 8. Individual investors include Laurene Powell Jobs, the widow of Steve Jobs; Susan L. Wagner, a co-founder of the investment firm BlackRock; Padmasree Warrior, the chief technology and strategy officer at Cisco; and Jerry Yang, co-founder of Yahoo.

Dr. Offit of Sloan Kettering said that even Myriad, which long had a monopoly on BRCA testing and has the most data, has reported having a 2 percent rate of variants of unknown significance, meaning 2 percent of the time it cannot tell if a variant in a gene increases the risk of cancer or is benign. Other companies might have higher rates. And the rates for some other, less-well-studied genes can be 20 or 30 percent, he said.

The entire testing industry is now scrambling to pool data to lower that rate, and in some cases to catch up to Myriad, which has kept much of its data proprietary as a competitive advantage. Various data-sharing efforts are already underway, including by ClinVar and the BRCA Challenge.

Now there is also BRCA Share, which is based on a database of genetic variants maintained by Inserm, a French government health research institute. Quest Diagnostics agreed to provide money to improve that database and pay for experiments on cells that could help determine whether certain mutations raise the risk of cancer.

“We are going to help them make it better,” said Dr. Charles M. Strom, vice president for genomics and genetics at Quest. He said BRCA Share would be open to others, with LabCorp becoming the first to join.

Participants will have to contribute their data to the database. Companies will pay for access to the data on a sliding scale based on their size, while others will have access to the data without paying, he said.

Topics: FDA, genes, health, healthcare, nurses, doctors, medical, cancer, patients, breast cancer, treatment, genetic testing, BRCA genes

Escaped Prisoner Turns Himself In After 39 Years for the Health Care

Posted by Erica Bettencourt

Wed, Apr 22, 2015 @ 02:29 PM

BY M. ALEX JOHNSON

www.nbcnews.com

150421 clarence david moore d3c6e04d31b80b2ffefd1a1256bf6e6e.nbcnews ux 800 600 resized 600Ronnie Dickinson of Frankfort, Kentucky, turned himself in to authorities with an incredible story, sheriff's officials said Tuesday: His name isn't Ronnie Dickinson, he's been a fugitive for nearly 39 years and he wants to go back to prison for the health care.

Clarence David Moore, 66, called the Franklin County Sheriff's Office on Monday and said he wanted to turn himself in, the sheriff's office said. When deputies arrived, they found Moore — who'd been living in Frankfort since 2009 and had ID'd himself as Ronnie Dickinson — partially paralyzed and unable to walk because of a recent stroke. He was arrested and taken by ambulance to a hospital for examination before he was taken to the Franklin County Regional Jail.

Sheriff Pat Melton told NBC station WLEX of Lexington on Tuesday that Moore said he'd escaped from the Henderson County, North Carolina, Prison Unit in the mid-1970s and has been on the lam for almost four decades.

But as he got sicker, he couldn't get medical coverage to pay for the complications of his stroke and other health problems, because he doesn't have a valid Social Security number under his alias.

"You can't make this up," Melton said.

North Carolina prison records show that Moore, in fact, escaped at least three times from state prisons — the first time in 1971, as he was serving an eight-year sentence for larceny. He was caught within hours, but he escaped again the next year and remained loose until 1975 before he was captured.

Finally, on Aug. 6, 1976, he vanished again — this time, seemingly, for good.

What Moore's been doing for the last almost 39 years remains unclear; Melton said he has difficulty talking because of his stroke. Since 2009, however, he's been the frail, bearded man who was always pleasant to folks in Frankfort, if somewhat reserved, said Edward Jordan, a neighbor.

"I'm shocked," Jordan told WLEX. "I can't believe it.

"He's a diabetic and I'm a diabetic, and we'd sit on the porch and talk about that," Jordan said.

Moore was arraigned Tuesday morning and waived extradition to North Carolina on a charge of being a fugitive from another state. He was being held without bond pending his being returned sometime this week.

Whatever happens, he won't go back to the same prison he escaped from in 1976. It closed in 2002.

Topics: stroke, health, healthcare, medical, hospital, treatment, prison, prisoner

Lymph Node Dissection May Not Be Necessary For Patients With Early-Stage Breast Cancer

Posted by Erica Bettencourt

Wed, Apr 15, 2015 @ 02:22 PM

http://news.nurse.com 

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Surgeons are no longer removing most of the lymph nodes in the underarm area when a biopsy near the area shows cancer, a major change in breast cancer management, according to a study published in the Journal of the American College of Surgeons.
Researchers evaluated data from 2.7 million patients with breast cancer in the U.S. and learned to what extent surgeons were following recommendations from the American College of Surgeons Oncology Group Z0011, or ACOSOG Z-11 trial, published four years ago.

They reported that most early-stage breast cancer patients with tumors in their sentinel lymph node who undergo lumpectomy do not benefit from surgical removal of the remaining lymph nodes in the underarm area, called completion axillary lymph node dissection or ALND, according to a news release. They found no difference in cancer recurrence and five-year survival between patients who underwent ALND and those who did not.

Researchers found a dramatic increase in the proportion of lumpectomy patients who underwent only a sentinel lymph node biopsy — SNB — without an ALND. The SNB-alone rate more than doubled — from 23% in 2009 to 56% in 2011, according to the study.

“As far as I know, our study is the first to show that the findings from the ACOSOG Z-11 trial have changed clinical practice for breast cancer patients nationwide,” lead author Katharine Yao, MD, FACS, director of the Breast Surgical Program at NorthShore University HealthSystem in Evanston, Ill., and clinical associate professor of surgery at the University of Chicago Pritzker School of Medicine, said in the release. “The Z-11 trial has had a huge impact because of the lower risks for patients who undergo SNB alone.”

Investigators found that 74,309 patients (of the 2.72 million cases diagnosed between 1998 and 2011) met criteria for having SNB alone but underwent lumpectomy and radiation therapy to the whole breast, according to the press release.

The rate of SNB alone cases reportedly increased from 6.1% in 1998 to 56% in 2011. 
Yao said findings suggest that some practitioners may feel uncomfortable not performing ALND in high-risk patients, and called for more education for surgeons.

Topics: surgery, biopsy, nurse, doctors, medical, cancer, patients, breast cancer, treatment, lymph node

Doctors Recommended She Pull The Plug On Her Husband. She Refused, And Then He Woke Up

Posted by Erica Bettencourt

Wed, Apr 08, 2015 @ 12:09 PM

www.sunnyskyz.com 

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Matt and Danielle Davis had been married only seven months when a devastating motorcycle accident left Matt on life support and in a coma.

Given only a 10% chance of waking up, Davis told WTOC that doctors advised her to pull the plug on her husband. She recalled hearing them say, "That's what they'd want their family to do."

Danielle refused to give up on him. "We didn't really have a chance to start our life together, I wasn't going to give up."

Matt spent three months in the coma, and moved from the hospital to their home where Danielle cared for him 24/7.

Then one day, against all odds, Matt said, "I'm trying."

He eventually came out of his coma, but he didn't remember anything that had happened in the last three years. He retained no memory of his father's death, or even meeting and marrying his wife.

But in the time that has passed since the accident, Matt has made amazing progress. Physical therapy has helped him learn to walk again.

They play scrabble and enjoy going to yoga classes together, and he's recently started driving a stick shift car for fun because he loves cars.

"One conversation with Matt will change your life," Danielle shared. "He has a servant's heart and a love for people. He never complains or feels anger about his circumstance. He just wants to make a difference and give hope."

The couple is currently trying to raise funds for Matt to continue his therapy.

Topics: recovery, coma, physical therapy, home care, health, healthcare, doctors, hospital, treatment, life support

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