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Health & Fitness (238)

NEW YORK (AP) -- By the time 10-year-old Sarah Murnaghan finally got a lung transplant last week, she'd been waiting for months, and her parents had sued to give her a better shot at surgery.

Her cystic fibrosis was threatening her life, and her case spurred a debate on how to allocate donor organs. Lungs and other organs for transplant are scarce.

But what if there were another way? What if you could grow a custom-made organ in a lab?

It sounds incredible. But just a three-hour drive from the Philadelphia hospital where Sarah got her transplant, another little girl is benefiting from just that sort of technology. Two years ago, Angela Irizarry of Lewisburg, Pa., needed a crucial blood vessel. Researchers built her one in a laboratory, using cells from her own bone marrow. Today the 5-year-old sings, dances and dreams of becoming a firefighter - and a doctor.

Growing lungs and other organs for transplant is still in the future, but scientists are working toward that goal. In North Carolina, a 3-D printer builds prototype kidneys. In several labs, scientists study how to build on the internal scaffolding of hearts, lungs, livers and kidneys of people and pigs to make custom-made implants.

Here's the dream scenario: A patient donates cells, either from a biopsy or maybe just a blood draw. A lab uses them, or cells made from them, to seed onto a scaffold that's shaped like the organ he needs. Then, says Dr. Harald Ott of Massachusetts General Hospital, "we can regenerate an organ that will not be rejected (and can be) grown on demand and transplanted surgically, similar to a donor organ."

That won't happen anytime soon for solid organs like lungs or livers. But as Angela Irizarry's case shows, simpler body parts are already being put into patients as researchers explore the possibilities of the field.

Just a few weeks ago, a girl in Peoria, Ill., got an experimental windpipe that used a synthetic scaffold covered in stem cells from her own bone marrow. More than a dozen patients have had similar operations.

Dozens of people are thriving with experimental bladders made from their own cells, as are more than a dozen who have urethras made from their own bladder tissue. A Swedish girl who got a vein made with her marrow cells to bypass a liver vein blockage in 2011 is still doing well, her surgeon says.

In some cases the idea has even become standard practice. Surgeons can use a patient's own cells, processed in a lab, to repair cartilage in the knee. Burn victims are treated with lab-grown skin.

In 2011, it was Angela Irizarry's turn to wade into the field of tissue engineering.

Angela was born in 2007 with a heart that had only one functional pumping chamber, a potentially lethal condition that leaves the body short of oxygen. Standard treatment involves a series of operations, the last of which implants a blood vessel near the heart to connect a vein to an artery, which effectively rearranges the organ's plumbing.

Yale University surgeons told Angela's parents they could try to create that conduit with bone marrow cells. It had already worked for a series of patients in Japan, but Angela would be the first participant in an American study.

"There was a risk," recalled Angela's mother, Claudia Irizarry. But she and her husband liked the idea that the implant would grow along with Angela, so that it wouldn't have to be replaced later.

So, over 12 hours one day, doctors took bone marrow from Angela and extracted certain cells, seeded them onto a 5-inch-long biodegradable tube, incubated them for two hours, and then implanted the graft into Angela to grow into a blood vessel.

It's been almost two years and Angela is doing well, her mother says. Before the surgery she couldn't run or play without getting tired and turning blue from lack of oxygen, she said. Now, "she is able to have a normal play day."

This seed-and-scaffold approach to creating a body part is not as simple as seeding a lawn. In fact, the researchers in charge of Angela's study had been putting the lab-made blood vessels into people for nearly a decade in Japan before they realized that they were completely wrong in their understanding of what was happening inside the body.

"We'd always assumed we were making blood vessels from the cells we were seeding onto the graft," said Dr. Christopher Breuer, now at Nationwide Children's Hospital in Columbus, Ohio. But then studies in mice showed that in fact, the building blocks were cells that migrated in from other blood vessels. The seeded cells actually died off quickly. "We in essence found out we had done the right thing for the wrong reasons," Breuer said.

Other kinds of implants have also shown that the seeded cells can act as beacons that summon cells from the recipient's body, said William Wagner, director of the McGowan Institute for Regenerative Medicine at the University of Pittsburgh. Sometimes that works out fine, but other times it can lead to scarring or inflammation instead, he said. Controlling what happens when an engineered implant interacts with the body is a key challenge, he said.

So far, the lab-grown parts implanted in people have involved fairly simple structures - basically sheets, tubes and hollow containers, notes Anthony Atala of Wake Forest University whose lab also has made scaffolds for noses and ears. Solid internal organs like livers, hearts and kidneys are far more complex to make.

His pioneering lab at Wake Forest is using a 3-D printer to make miniature prototype kidneys, some as small as a half dollar, and other structures for research. Instead of depositing ink, the printer puts down a gel-like biodegradable scaffold plus a mixture of cells to build a kidney layer by layer. Atala expects it will take many years before printed organs find their way into patients.

Another organ-building strategy used by Atala and maybe half a dozen other labs starts with an organ, washes its cells off the inert scaffolding that holds cells together, and then plants that scaffolding with new cells.

"It's almost like taking an apartment building, moving everybody out ... and then really trying to repopulate that apartment building with different cells," says Dr. John LaMattina of the University of Maryland School of Medicine. He's using the approach to build livers. It's the repopulating part that's the most challenging, he adds.

One goal of that process is humanizing pig organs for transplant, by replacing their cells with human ones.

"I believe the future is ... a pig matrix covered with your own cells," says Doris Taylor of the Texas Heart Institute in Houston. She reported creating a rudimentary beating rat heart in 2008 with the cell-replacement technique and is now applying it to a variety of organs.

Ott's lab and the Yale lab of Laura Niklason have used the cell-replacement process to make rat lungs that worked temporarily in those rodents. Now they're thinking bigger, working with pig and human lung scaffolds in the lab. A human lung scaffold, Niklason notes, feels like a handful of Jell-O.

Cell replacement has also worked for kidneys. Ott recently reported that lab-made kidneys in rats didn't perform as well as regular kidneys. But, he said, just a "good enough organ" could get somebody off dialysis. He has just started testing the approach with transplants in pigs.

Ott is also working to grow human cells on human and pig heart scaffolds for study in the laboratory.

There are plenty of challenges with this organ-building approach. One is getting the right cells to build the organ. Cells from the patient's own organ might not be available or usable. So Niklason and others are exploring genetic reprogramming so that, say, blood or skin cells could be turned into appropriate cells for organ-growing.

Others look to stem cells from bone marrow or body fat that could be nudged into becoming the right kinds of cells for particular organs. In the near term, organs might instead be built with donor cells stored in a lab, and the organ recipient would still need anti-rejection drugs.

How long until doctors start testing solid organs in people? Ott hopes to see human studies on some lab-grown organ in five to 10 years. Wagner calls that very optimistic and thinks 15 to 20 years is more realistic. Niklason also forecasts two decades for the first human study of a lung that will work long-term.

But LaMattina figures five to 10 years might be about right for human studies of his specialty, the liver.

"I'm an optimist," he adds. "You have to be an optimist in this job."

--- Michael Rubinkam in Lewisburg, Pa., and Allen Breed in Winston-Salem, N.C., contributed to this story.
Monday, 17 June 2013 11:28
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PHILADELPHIA (AP) -- A 10-year-old girl with cystic fibrosis was recovering from a transplant of adult lungs after a judge's ruling expanded her options for lifesaving surgery.

Sarah Murnaghan underwent a six-hour surgery Wednesday at Children's Hospital of Philadelphia, a procedure her aunt said resulted because of the larger list of available organs.

"It was a direct result of the ruling that allowed her to be put on the adult list," Sharon Ruddock said after her niece's surgery was completed successfully. "It was not pediatric lungs. She would have never gotten these lungs otherwise."

She said the donor lungs came through "normal channels" and not through the public appeals the family made in its bid to find a compatible donor. No other details about the donor lungs are known.

The Murnaghan family's quest to qualify their daughter for an organ transplant spurred public debate over how donor organs are allocated.

Her family and the family of another cystic fibrosis patient at the same hospital challenged existing transplant policy that made children under 12 wait for pediatric lungs to become available, or be offered lungs donated by adults only after adolescents and adults on the waiting list had been considered. They said pediatric lungs are rarely donated.

Sarah's health was fading when U.S. District Judge Michael Baylson in Philadelphia ruled June 5 that Sarah and 11-year-old Javier Acosta of New York City should be eligible for adult lungs.

Critics warned there could be a downside to having judges intervene in the organ transplant system's allocation policy. Lung transplants are difficult procedures and some say child patients tend to have more trouble with them than adults.

During double lung transplants, surgeons must open up the patient's chest. Complications can include rejection of the new lung and infection.

"Her doctors are very pleased with both her progress during the procedure and her prognosis for recovery," the family said in a statement. "The surgeons had no challenges resizing and transplanting the donor lungs - the surgery went smoothly, and Sarah did extremely well. She is in the process of getting settled in the ICU and now her recovery begins. We expect it will be a long road, but we're not going for easy, we're going for possible."

Ruddock said the family was optimistic about Sarah's recovery.

"If everything goes perfectly, she could be out in a couple of weeks, running down the hall," Ruddock said. "It could take a couple of months, it could take three weeks."

The Murnaghan family noted that Sarah's successful surgery was the result of another family's loss:

"We are elated this day has come, but we also know our good news is another family's tragedy. That family made the decision to give Sarah the gift of life - and they are the true heroes today."

On Wednesday, in a posting on her Facebook page, Janet Murnaghan said she and the family were "overwhelmed with emotions" and thanked all her supporters. She said the donor's family "has experienced a tremendous loss, may God grant them a peace that surpasses understanding."

Ruddock said Sarah doesn't yet know the full extent of the impact her case has had.

"She really wanted to Google herself the other day and we were like, no."

The Organ Procurement and Transplantation Network - the national organization that manages organ transplants - added Sarah to the adult waiting list after Baylson's ruling. Her transplant came just two days before a hearing was scheduled on the family's request for a broader injunction.

The network has said 31 children under age 11 are on the waiting list for a lung transplant. Its executive committee held an emergency meeting this week but resisted making emergency rule changes for children under 12 who are waiting for lungs, instead creating a special appeal and review system to hear such cases.

Murnaghan's family "did have a legitimate complaint" about the rule that limited her access to adult lungs, said medical ethicist Arthur Caplan of the NYU Langone Medical Center in New York.

"When the transplant community met, they didn't want to change that rule without really thinking carefully about it," he said. The appeals process that was established this week was "built on evidence, not on influence."

He added: "In general, the road to a transplant is still to let the system decide who will do best with scarce, lifesaving organs. And it's important that people understand that money, visibility, being photogenic ... are factors that have to be kept to a minimum if we're going to get the best use out of the scarce supply of donated cadaver organs."

---

Ritter, an AP science writer, reported from New York. Associated Press Writer Maryclaire Dale in Philadelphia also contributed to this report.

© 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
Thursday, 13 June 2013 11:29
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NEW YORK (AP) -- After setting off a storm of criticism from abortion rights groups upset that a Democratic president had sided with social conservatives, the Obama administration said it will comply with a judge's order to allow girls of any age to buy emergency contraception without prescriptions.

But in doing so, at least one opponent of easy access to the contraception thinks the president is buckling to political pressure, rather than making the health of girls a priority.

The Justice Department notified U.S. District Judge Edward Korman on Monday that it will submit a plan for compliance. If he approves it, the department will drop its appeal of his April ruling.

According to the department's letter to the judge, the Food and Drug Administration has told the maker of the pills to submit a new drug application with proposed labeling that would permit it to be sold "without a prescription and without age or point-of-sale prescriptions." The FDA said that once it receives the application, it "intends to approve it promptly."

Advocates for girls' and women's rights said the federal government's decision to comply with the judge's ruling could be a move forward for "reproductive justice" if the FDA acts quickly and puts emergency contraception over the counter without restriction.

"It's about time that the administration stopped opposing women having access to safe and effective birth control," Annie Tummino, coordinator of the National Women's Liberation and lead plaintiff in a lawsuit over unrestricted access to the morning-after pill, said in an emailed statement.

She said women and girls should have "the absolute right to control our bodies without having to ask a doctor or a pharmacist for permission."

NARAL Pro-Choice America President Ilyse Hogue welcomed the decision by the Obama administration.

"By making emergency contraception available to women of all ages, the FDA is taking an important step to reduce unintended pregnancies and put women in control of their futures," Hogue said in a statement.

But an opponent of the contraception plan, at the anti-abortion Family Research Council, criticized the government for not sticking with its decision to appeal.

"We're very concerned and disappointed at the same time because what we see here is the government caving to political pressure instead of putting first the health and safety of girls (and) parental rights," said Anna Higgins, director of the council's Center for Human Dignity.

The government had appealed the judge's underlying April 5 ruling, which ordered emergency contraceptives based on the hormone levonorgestrel be made available without a prescription, over the counter and without point-of-sale or age restrictions.

It had asked the judge to suspend the effect of that ruling until the appeals court could decide the case. But the judge declined, saying the government's decision to restrict sales of the morning-after pill was "politically motivated, scientifically unjustified and contrary to agency precedent." He also said there was no basis to deny the request to make the drugs widely available.

The government had argued that "substantial market confusion" could result if the judge's ruling were enforced while appeals were pending, only to be later overturned.

Last week, an appeals court dealt the government a setback by saying it would immediately permit unrestricted sales of the two-pill version of the emergency contraception until the appeal was decided.

The morning-after pill contains a higher dose of the female hormone progestin than is in regular birth control pills. Taking it within 72 hours of rape, condom failure or just forgetting regular contraception can cut the chances of pregnancy by up to 89 percent, but it works best within the first 24 hours. If a girl or woman already is pregnant, the pill, which prevents ovulation or fertilization of an egg, has no effect.

The FDA was preparing in 2011 to allow over-the-counter sales of the morning-after pill with no limits when Health and Human Services Secretary Kathleen Sebelius overruled her own scientists in an unprecedented move.

The FDA announced in late April that Plan B One-Step, the newer version of emergency contraception, the same drug but combined into one pill instead of two, could be sold without a prescription to those age 15 or older. Its maker, Teva Women's Health, plans to begin those sales soon. Sales had previously been limited to those who were at least 17.

The judge later ridiculed the FDA changes, saying they established "nonsensical rules" that favored sales of the Plan B One-Step morning-after pill and were made "to sugarcoat" the government's appeal.

He also said they placed a disproportionate burden on blacks and the poor by requiring a prescription for less expensive generic versions of the drug bought by those under age 17 and by requiring those age 17 or over to show proof-of-age identification at pharmacies. He cited studies showing that blacks with low incomes are less likely than other people to have government-issued IDs.

Reluctant to get drawn into a messy second-term spat over social issues, White House officials have argued that the FDA and the Department of Justice were acting independently of the White House in deciding how to proceed. That approach continued Monday, with the White House referring all questions about the decision to Health and Human Services.

Still, Obama has made clear in the past that he feels strongly about the limits, and he said in 2011 he supported Sebelius' decision to impose them despite the advice of her scientists.

"As the father of two daughters, I think it is important for us to make sure that we apply some common sense to various rules when it comes to over-the-counter medicine," Obama said then. ---

Associated Press Writer Josh Lederman in Washington contributed to this report.

© 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
Tuesday, 11 June 2013 11:39
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WASHINGTON (AP) -- Federal health officials say they have found bacteria and fungus in drug vials from a Tennessee specialty pharmacy that recalled all of its injectable medicines last month.

The Food and Drug Administration said in an online posting Friday that it identified the growths in two unopened vials of a steroid injection distributed by the Main Street Family Pharmacy, a compounding pharmacy in Newbern, Tenn. The agency said it is working with the Centers for Disease Control and Prevention to identify the exact species of fungus and bacteria.

State and federal officials began investigating the pharmacy last month after seven patients in North Carolina and Illinois reported skin abscesses after being injected with methylprednisolone acetate, a steroid used to treat inflammation, joint pain and respiratory issues.

The same steroid was involved in a deadly fungal meningitis outbreak last year that has killed 58 people and sickened more than 740 others.

The FDA said it is not aware of any cases of meningitis associated with Main Street Family Pharmacy's products.

Last month the pharmacy recalled its entire stock of sterile products manufactured after Dec. 6, 2012.

A spokesman for the Main Street Family Pharmacy said its owners are aware of the FDA's findings.

"In addition to the recall, our efforts have also included comprehensive, aggressive outreach to everyone who could be affected. We continue to fully cooperate with state boards of health and pharmacies, the FDA and CDC to protect patients and resolve any lingering concerns," said spokesman Joe Grillo, in a statement.

The company's steroid was shipped to medical facilities in 13 states: Alabama, Arkansas, California, Florida, Kentucky, Illinois, Louisiana, Mississippi, New Mexico, North Carolina, South Carolina, Tennessee and Texas.

The Main Street Family Pharmacy's license was placed on three-year probation in March and its owners were fined $25,600 after a pair of inspections found various problems at the facility.

According to a consent order, the 2011 inspection found out-of-date medications on the pharmacy's shelves that were being used in drug manufacturing. It also found a technician who had been working without proper registration for more than four years. When inspectors returned in November 2012 they found 109 out-of-date or deteriorated medications on the shelves, as well as other problems.

© 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
Monday, 10 June 2013 11:22
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PHILADELPHIA (AP) -- The national organ transplant network has complied with a judge's unusual order and placed a dying 10-year-old girl on the adult waiting list for a donated lung.

The Organ Procurement and Transplantation Network added her to the list Wednesday night after the government relayed U.S. District Judge Michael Baylson's ruling, U.S. Health and Human Services Secretary Kathleen Sebelius said Thursday.

The girl, Sarah Murnaghan, also remains on the priority list for a lung from a pediatric donor, Sebelius said.

Her parents had challenged existing transplant policy that made children under 12 wait for pediatric lungs to become available, or be offered lungs donated by adults after adolescents and adults on the waiting list had been considered.

"We are beyond thrilled," Janet Murnaghan, the girl's mother, told The Associated Press on Wednesday. "Obviously we still need a match."

The ruling applied only to Sarah, who has end-stage cystic fibrosis and has been awaiting a transplant at the Children's Hospital of Philadelphia. An expert has questioned the decision on medical and ethical grounds.

Lung transplants are the most difficult of organ transplants, and children fare worse than adults, which is one reason for the existing policy, said Dr. Arthur Caplan, a bioethicist at New York University Langone Medical Center.

He called it troubling, and perhaps precedent-setting, for a judge to overrule that medical judgment, and predicted a run to the courthouse by patients who don't like their place on the waiting list.

"I'm not sure I want judges or congressmen or bureaucrats trying to decide what to do with organs at the bedside," Caplan said.

Sarah's family, who live Newtown Square in suburban Philadelphia, filed suit Wednesday to challenge organ transplant rules that say children under age 12 must wait for pediatric lungs to become available, or wait at the end of the adult list, which included adults who aren't as critically ill. The Murnaghans say pediatric lungs are rarely donated, so they believe older children should have equal access to the adult donations.

Baylson suspended the age limit in the nation's transplant rules for 10 days for Sarah, who has been at Children's Hospital for three months. A June 14 hearing on the request has been scheduled for a broader injunction.

Nationwide, about 1,700 people are on the waiting list for a lung transplant, including 31 children under age 11, according to the Organ Procurement and Transplantation Network.

Sebelius had declined to become involved in the case earlier this week, despite urgent pleas from several Pennsylvania congressmen.

Sebelius said there were three other children at Children's Hospital alone in the same condition as Sarah. She has called for a review of pediatric transplant policies amid the higher death rates for pediatric patients, but the Murnaghans say Sarah doesn't have time for that.

Sarah's doctors, one of whom testified Wednesday at an emergency hearing before Baylson, believe they can perform a successful transplant on her with adult lungs.

"She definitely understands things have improved quite a bit," the girl's aunt, Sharon Ruddock, said after the ruling.

The Murnaghans' attorney, Steve Harvey, said a committee of the organization that sets transplants policy may meet next week and he hoped it would change the policy.

"I hope that they decide to discontinue it completely for children under 12. I won't be satisfied until Sarah Murnaghan receives a set of lungs," he said. "The risk of her dying until she gets those lungs is high."

Joel Newman, spokesman for the United Network for Organ Sharing that operates the nation's transplant network, said he was unaware of any previous court order that overruled a transplant policy.

While many more adult lungs than children's lungs wind up being donated, the ruling doesn't guarantee Sarah a new set of lungs. The matches are based on blood type, the risk of dying, the chance of surviving a transplant and other medical factors. The donor lungs would also have to be an appropriate size for her chest.

Newman said some lungs donated from deceased adults have been offered for children's transplants over the past two years, although he couldn't give a number. But he said all were turned down by the children's surgeons.

The UNOS system was established to avoid bias in determining who gets organs, thus ensuring that the rich or celebrities, for example, don't have a better chance, Caplan noted. He said it is transparent, with policies open to public comment and scrutiny before they're enacted.

"When a judge steps in and says, `I don't like these rules, I think they're arbitrary,' they better be very arbitrary or he's undermining the authority of the whole system. Why wouldn't anybody sue?" ---

Neergaard reported from Washington. Associated Press writer Kevin Begos in Pittsburgh contributed to this report.

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Thursday, 06 June 2013 11:49
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LONDON (AP) -- For decades, health officials have battled malaria with insecticides, bed nets and drugs. Now, scientists say there might be a potent new tool to fight the deadly mosquito-borne disease: the stench of human feet.

In a laboratory study, researchers found that mosquitoes infected with the tropical disease were more attracted to human odors from a dirty sock than those that didn't carry malaria. Insects carrying malaria parasites were three times more likely to be drawn to the stinky stockings.

The new finding may help create traps that target only malaria-carrying mosquitoes, researchers say.

"Smelly feet have a use after all," said Dr. James Logan, who headed the research at the London School of Hygiene and Tropical Medicine. "Every time we identify a new part of how the malaria mosquito interacts with us, we're one step closer to controlling it better."

The sock findings were published last month in the journal, PLoS One.

Malaria is estimated to kill more than 600,000 people every year, mostly children in Africa.

Experts have long known that mosquitoes are drawn to human odors, but it was unclear if being infected with malaria made them even more attracted to us. Infected mosquitoes are believed to make up about 1 percent of the mosquito population.

Using traps that only target malaria mosquitoes could result in fewer mosquitoes becoming resistant to the insecticides used to kill them. And it would likely be difficult for the insects to evade traps based on their sense of smell, scientists say.

"The only way mosquitoes could (develop resistance) is if they were less attracted to human odors," said Andrew Read, a professor of biology and entomology at the University of Pennsylvania, who was not part of Logan's research. "And if they did that and started feeding on something else - like cows - that would be fine."

Read said the same strategy might also work to target insects that carry other diseases such as dengue and Japanese encephalitis.

In a related study, Logan and colleagues also sealed human volunteers into a foil bag to collect their body odor as they grew hot and sweaty. The odors were then piped into a tube next door, alongside another tube untainted by human odor. Afterwards, mosquitoes were released and had the option of flying into either tube. The insects buzzed in droves into the smelly tube.

Logan said the next step is to identify the chemicals in human foot odor so that it can be made synthetically for mosquito traps. But given mosquitoes' highly developed sense of smell, getting that formula right will be challenging.

Some smelly cheeses have the same odor as feet, Logan noted.

"But mosquitoes aren't attracted to cheese because they've evolved to know the difference," he said. "You have to get the mixture, ratios and concentrations of those chemicals exactly right otherwise the mosquito won't think it's a human."

Scientists said it's crucial to understand the subtleties of mosquito behavior. Other studies have shown mosquitoes don't become attracted to humans for about two weeks - the time it takes for the malaria parasites to become infectious for humans.

"At the moment, we only have these glimpses of how parasites are manipulating the mosquitoes," said George Christophides, chair of infectious disease and immunity at Imperial College London. "We need to exploit that information to help us control malaria."

--- Online: Journal: HTTP://DX.PLOS.ORG/10.1371/JOURNAL.PONE.0063602 © 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
Tuesday, 04 June 2013 11:25
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CHICAGO (AP) -- Gene flaws that raise the risk of breast cancer are surprisingly common in black women with the disease, according to the first comprehensive testing in this racial group. The study found that one-fifth of these women have BRCA mutations, a problem usually associated with women of Eastern European Jewish descent but recently highlighted by the plight of Angelina Jolie.

The study may help explain why black women have higher rates of breast cancer at young ages - and a worse chance of survival.

Doctors say these patients should be offered genetic counseling and may want to consider more frequent screening and prevention options, which can range from hormone-blocking pills to breast removal, as Jolie chose to do.

"We were surprised at our results," said the study leader, Dr. Jane Churpek, a cancer specialist at the University of Chicago. Too few black women have been included in genetic studies in the past and most have not looked for mutations to the degree this one did, "so we just don't have a good sense" of how much risk there is, she said.

Churpek gave results of the study Monday at an American Society of Clinical Oncology conference in Chicago. The researchers include Mary-Claire King, the University of Washington scientist who discovered the first breast cancer predisposition gene, BRCA1.

Jolie revealed a few weeks ago that she carries a defective BRCA1 gene, giving her up to an 87 percent risk of developing breast cancer and up to a 54 percent risk for ovarian cancer. The actress's mother had breast cancer and died of ovarian cancer, and her maternal grandmother also had ovarian cancer. An aunt recently died of breast cancer.

Children of someone with a BRCA mutation have a 50 percent chance of inheriting it.

In the U.S., about 5 to 10 percent of breast cancers are thought to be due to bad BRCA genes. Among breast cancer patients, BRCA mutations are carried by 5 percent of whites and 12 percent of Eastern European (Ashkenazi) Jews. The rates in other groups are not as well known.

The study involved 249 black breast cancer patients from Chicago area hospitals. Many had breast cancer at a young age, and half had a family history of the disease.

They were given complete gene sequencing for all 18 known breast cancer risk genes rather than the usual tests that just look for a few specific mutations in BRCA genes.

Gene flaws were found in 56, or 22 percent, of study participants; 46 of them involved BRCA1 or BRCA2 and the rest were less commonly mutated genes.

Harmful mutations were found in 30 percent of black women with "triple-negative breast cancer" - tumors whose growth is not fueled by estrogen, progesterone or the gene that the drug Herceptin targets. Doctors have long known that these harder-to-treat cases are more common in black women.

The National Cancer Institute, the Breast Cancer Research Foundation and Komen for the Cure paid for the study.

It included many younger women and those with a family history of cancer, and they are known to have higher rates of gene mutations that raise risk, said Rebecca Nagy, a genetics counselor at Ohio State University and president of the National Society of Genetic Counselors.

Still, "it has always stumped us" to see black families with lots of breast cancer but no mutations that can be found in ordinary testing for BRCA genes, she said.

That was the situation for Alicia Cook, 44, a Chicago woman whose grandmother died of breast cancer, mother died of ovarian cancer and two sisters have had breast cancer. When she was first diagnosed with breast cancer nearly 10 years ago, a test for BRCA mutations was negative.

Doctors said, "I'm sure there's something going on genetically" but they didn't have the tools to find it, Cook said.

Last year, she had a recurrence and a sister who was diagnosed with the disease learned she carried a BRCA1 mutation. Cook was retested for the same mutation and found to have it. Now she is telling her relatives in hopes that more of them will seek genetic counseling and be aware of their risk.

"You don't want to put people in fear, but knowledge is power," she said.

--- Online:

Breast cancer: HTTP://WWW.CANCER.NET/CANCER-TYPES/BREAST-CANCER

and HTTP://WWW.CANCER.GOV/CANCERTOPICS/FACTSHEET/RISK/BRCA

---

Marilynn Marchione can be followed at HTTP://TWITTER.COM/MMARCHIONEAP © 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.
Monday, 03 June 2013 11:01
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MEDICAL POT LAWS & TREATS MAY SEND MORE KIDS TO ER

MEDICAL POT LAWS & TREATS MAY SEND MORE KIDS TO ER

CHICAGO (AP) -- Increased use of medical marijuana may lead to more young children getting sick from accidentally eating food made with the drug, a Colorado study suggests. Medi...

STL Co. offering free flu shots

STL Co. offering free flu shots

Flu season is upon us, and health officials say St. Louis County is being hit hard.  More than 800 flu cases have already been reported in the county and almost half the vi...

Online health insurance exchanges now open

Online health insurance exchanges now open

   The online health insurance exchanges are now open in both Missouri and Illinois.  The online marketplace is a key component of the federal health care law.      Illinois offic...

FDA: ANTI-BACTERIAL SOAPS MAY NOT CURB BACTERIA

FDA: ANTI-BACTERIAL SOAPS MAY NOT CURB BACTERIA

WASHINGTON (AP) -- After more than 40 years of study, the U.S. government says it has found no evidence that common anti-bacterial soaps prevent the spread of germs, and regulat...

SOME SIGNS POLICE LOOK FOR IN PSYCHIATRIC CRISES

SOME SIGNS POLICE LOOK FOR IN PSYCHIATRIC CRISES

Police officers who receive crisis intervention training are taught how to recognize when someone with serious mental illness might be having a psychiatric crisis. Considering t...

FRIENDS COMMON SOURCE OF ABUSED PRESCRIPTION MEDS

CHICAGO (AP) -- Most people who abuse addictive prescription painkillers get them for free from friends or relatives, while drug dealers are a relatively uncommon source for tho...

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