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  • Recommended: 'Why would we wait?': 3 sisters face Jolie's cancer dilemma
  • Recommended: Chorus of critics greets new psychiatric manual release
  • Recommended: New SARS cousin finally has a name : MERS
  • Recommended: Attention deficit leads US kids' mental health problems, CDC reports

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    1
    day
    ago

    'Why would we wait?': 3 sisters face Jolie's cancer dilemma

    John Makely / NBC News

    Sisters Cathy Balsamo, left, Patti Broccoli, center, and Cindy Lepore, right, have all tested positive for the BRCA1 genetic mutation that raises the risk of breast and ovarian cancer. All three sisters have had preventive surgery to have their breasts and ovaries removed. Two weeks after her surgery, Broccoli was diagnosed with breast cancer.

    By JoNel Aleccia, Senior Writer, NBC News

    Actress Angelina Jolie’s revelation this week that she’d had both breasts removed to lower her elevated risk of cancer came as a bombshell to many -- but not to three sisters from Berkeley Heights, N.J.

    The women -- Cathy Balsamo, Cindy Lepore and Patti Broccoli -- have spent most of the past year grappling with the very dilemma that Jolie faced: What to do when a genetic mutation means you’ve got a sky-high chance of breast or ovarian cancer?

    “Rich, poor, famous, not famous -- it’s the same decision,” said Balsamo, 46, who was the first to learn last spring that she had a mutation of the BRCA1 gene, which boosts the risk of both kinds of cancer.

    “It doesn’t make it easier or harder.”

    The family -- which includes the three sisters and a brother, Joseph Zichichi, 48 -- offers an extreme example of the issues now illuminated by Jolie’s spotlight. 

    Like Jolie, all three women opted for preventive double mastectomies. Unlike Jolie, who’s 37, the 40-something sisters also all had concurrent operations to remove their ovaries. Jolie wrote in the New York Times that she plans to have that surgery later.

    “The option of waiting and watching was never an option,” said Broccoli, a 49-year-old nurse. “Why would we wait for cancer?”

    Though their mother, Patricia Zichichi, had always warned of a family history rife with cancer -- a grandmother and two great-aunts died young of what was then called “women’s cancer” -- the sisters didn’t know about their actual genetic risk until Balsamo asked her doctor to perform the BRCA test in April 2012.

    “He was just so upset and said ‘I hate to have to tell you this,’” recalled Balsamo, who is an activity director at a nursing home. “Immediately, when he said BRCA1, breast and ovarian, I said, ‘I’m getting a double mastectomy and a hysterectomy.”

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    Within weeks, her sisters had the same test -- with the same results. It’s not surprising that all three women would turn up positive for BRCA mutations, said Dr. Larissa Korde, a breast cancer specialist at the Seattle Cancer Care Alliance in Washington. If one parent carries the defective gene, there’s 50 percent chance any child will get it.

    “Sometimes you see it in families where everybody’s got it,” Korde said. “It’s just chance.”

    A woman with a harmful BRCA1 or BRCA2 mutation has a 60 percent chance of developing breast cancer during her lifetime, about five times higher than the overall rate of 12 percent, cancer experts say. She has a 15 percent to 40 percent lifetime chance of getting ovarian cancer, compared with about 1.4 percent in the general population.

    With those odds, the sisters opted for surgery within months of each other. Lepore, 42, a respiratory therapist who has type 1 diabetes, had her initial and reconstruction surgeries last October. Broccoli had her surgery in January and Balsamo followed in February.

    Ironically, Broccoli’s preventive surgery actually may have saved her life. Two weeks after her double mastectomy in January, she was diagnosed with breast cancer -- but at such an early stage her chance of cure is very good. A mammogram and two MRIs before surgery had suggested strongly she was cancer-free, but doctors detected ductal disease after Broccoli's operation. 

    “I consider it a blessing,” said Broccoli, who lost her hair to three rounds of chemotherapy. “I know what could have happened if it hadn’t been caught early.”

    Rates of women opting for preventive mastectomies have risen by as much as 50 percent in recent years, cancer experts estimate. That's despite the small chance of getting cancer anyway, the risk of major surgery and the fact that there are alternatives, including drugs and careful monitoring. 

    Still, some women who learn of BRCA mutations are devastated by the information -- and by the dilemma of whether to have surgery, Korde said. “I’ve definitely had women who were through childbearing and who feel emotionally conflicted about losing their breasts.”

    But the New Jersey sisters aren’t among them. “For me, it was a no-brainer,” Balsamo said. “The good of it outweighed the bad. So I don’t have terrific boobs. I’ll never have nipples. I didn’t have that emotional thing.”

    John Makely / NBC News

    The sisters all live within a mile of each other in Berkeley Heights, N.J. They say they've supported each other through the ordeal.

    What does make them emotional, the sisters said, is what the genetic legacy might mean for the rest of the family. Joe Zichichi is scheduled to be tested for BRCA mutations soon, too, the women said.

    The results could have implications for him in the form of an increased risk of pancreatic, prostate or other cancers, doctors say.

    “There’s more to BRCA genes than breast and ovary cancer,” said Dr. Eileen O’Reilly, a gastrointestinal cancer specialist at Memorial Sloan Kettering Cancer Center in New York. “As much as 5 percent of pancreatic cancer risk might be related to BRCA mutations.”

    But the family is especially concerned about possible future effects on their children. They all live within a mile of each other; there are 13 grandchildren in the family, including Joe Zichichi’s four daughters.

    Two of the granddaughters are in their early 20s. The U.S. Preventive Services Task Force recommends BRCA testing only for women with a strong family history of cancer, about 2 percent of all women in the U.S. But for those with that high risk, testing can be done at age 25.

    Whether such young women choose to be tested -- and what action they’ll take afterward -- is something serious to ponder, the sisters said. 

    “We have a good four years to figure this out,” said Balsamo. “God willing there will be something in that period of time that helps our daughters deal with it.”

    It’s not clear when Jolie learned of her genetic risk or how long it took to decide that surgery was the best option. Her decision has prompted a flood of calls and inquiries to cancer centers nationwide, including Korde’s, and to geneticists, said Dr. Michael Watson, executive director of the American College of Medical Genetics and Genomics.

    The New Jersey sisters said they’re grateful for the awareness that Jolie’s decision brings to an issue that has become central to their daily lives.

    “I was actually very happy,” said Lepore. “In this world, it takes someone like Angelina Jolie to get recognition of important things.”

    What choice would you make if you had a BRCA mutation, dramatically raising your cancer risk? Talk about it on Facebook.

    Related stories: 

    • More women opting for preventive mastectomy -- but should they be?
    • Angelina Jolie: I had a double mastectomy because of high breast cancer risk
    • Doctors detail Angelina Jolie's breast cancer surgery
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  • 2
    days
    ago

    New IVF method uses time-lapse snapshots to boost live births

    The EmbryoScope is helping doctors best determine which embryos offer the best chance at becoming healthy babies, and new research indicates this process could raise live birthrates by 50 percent or more. NBC's Dr. Nancy Snyderman reports.

     

    By Kate Kelland, Reuters

    LONDON -- British fertility experts have devised a new IVF technique that takes thousands of snapshots of a developing embryo that they say can help doctors pick those most likely to implant successfully and develop into healthy babies.

    At a briefing in London before publishing their results, the researchers said they are already using the technique to select "low risk" embryos that are the least likely to have chromosomal abnormalities that could hamper their development.

    In their study, published in the journal Reproductive BioMedicine Online, the team's chances of producing a successful live birth after in-vitro fertilization (IVF) were increased by 56 percent using the new technique compared to the standard method of selecting embryos that look best through a microscope.

    "In the 35 years I have been in this field, this is probably the most exciting and significant development that can be of value to all patients seeking IVF," said Simon Fishel, a leading fertility doctor and director at the IVF clinic operator CARE Fertility where the technique is being developed.

    Independent scientists not involved in the work welcomed it as a significant advance but said full randomized controlled trials - the gold standard in medicine - should be conducted before it is adopted as mainstream practice.

    "This paper is interesting because we really do need to make advances in selecting the best embryos created during IVF," said Allan Pacey of Sheffield University, chair of the British Fertility Society.

    "The idea of monitoring embryo development more closely is being used increasingly in clinics around the world and so it is good to see the science involved submitted to peer review and publication," he added. "All too often, developments in IVF are trumpeted as advances when they remain unproven."

    Experts say that today, as many as 1 to 2 percent of babies in the Western world are conceived through IVF. The standard methods of selecting embryos are based largely on what they look like through a microscope, and many IVF cycles fail because the embryo chosen and transferred to the womb fails to develop.

    The scientists who led this study said that using time-lapse images, they had found that developmental delays in the embryo at crucial stages are good indicators of likely chromosomal abnormalities that could result in a failed pregnancy.

    "In conventional IVF laboratories, embryo development will be checked up to six times over a 5-day period," said Alison Campbell, Care Fertility's embryology director and the lead researcher on the study being published.

    "With time-lapse we have the ability to view more than 5,000 images over the same time period to observe and measure more closely each stage of division and growth."

    Using this new knowledge, the team developed what they call morphokinetic algorithms to predict success (MAPS). By applying these MAPS to the selection of embryos, they predict they could reach a live birth rate for patients undergoing IVF of 78 percent - about three times the national average.

    Fishel, whose CARE Fertility clinics are Britain's largest independent provider of assisted conception cycles, with around 3,500 a year, said he is charging around 750 pounds ($1,100) for IVF using the MAPS technique - compared to several thousand pounds for a standard IVF cycle.

    But Sue Avery, head of the Women's Fertility Centre in Birmingham, said it was too soon for all clinics to adopt it.

    "Until the new technique is compared to current practice we cannot know whether different embryos are being chosen," she said. "The IVF community needs a prospective randomized controlled trial to prove that the new approach delivers better results before it can be recommended to patients."

    Copyright 2013 Thomson Reuters. Click for restrictions.

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  • 3
    days
    ago

    Chorus of critics greets new psychiatric manual release

    The American Psychiatric Association has updated "The Diagnostic and Statistical Manual of Mental Disorders" for the first time in 19 years, making some controversial changes. Psychiatrists Dr. Gail Saltz and Dr. Sally Satel talk about what it means for mental health professionals and patients.

    By Brian Alexander, NBC News Contributor

    The fifth edition of the American Psychiatric Association's manual of mental disorders is finally out, offering the latest revision in nearly 20 years of the diagnostic bible used by individuals and agencies, insurers, schools and government bodies to navigate the mental health landscape.

    But just as it’s birthed, the new Diagnostic and Statistical Manual of Mental Health Disorders -- widely known as the DSM-5 -- is under attack by prominent critics, including the chairman of the task force that created the last version.

    Dr. Allen Frances, who led efforts on the DSM-4, minces no words in describing the new 1,000-page tome that’s part guide, part dictionary for theorists and practitioners alike.

    “My advice for people is not to buy the DSM-5, not to use it, not to teach it,” Frances told NBC News. “I do not think it will be useful for those endeavors.”

    He suggests that doctors and everyone else use the International Classification of Diseases instead.

    The psychiatric society is releasing the manual early Friday in advance of a meeting in San Francisco. Its backers say it offers better organization and more precise diagnoses than its predecessors.

    “The changes to the manual will help clinicians more precisely identify mental disorders and improve diagnosis while maintaining the continuity of care,” said Dr. David J. Kupfer, chair of the DSM-5 task force, in a statement. "We expect these changes to help clinicians better serve patients and to deepen our understanding of these disorders based on new research."

    But Frances and other critics say the new manual too often turns normal reactions to life events into diagnosable mental conditions.

    Earlier this week, Dr. Thomas Insel, director of the National Institute for Mental Health, declared that the DSM-5 lacked “validity” because its diagnoses lack objective standards and measures.

    Grief is one of several examples, said Frances, who has written a book about his objections called “Saving Normal: An Insider’s Revolt Against Out-of-Control Psychiatric Diagnosis, DSM-5, Big Pharma, and the Medicalization of Ordinary Life.”  

    “It staggers the imagination!” he said. “In two weeks after the loss of a person you love, if you are still feeling these symptoms: loss of interest, reduced appetite, trouble sleeping, less energy, it qualifies as major depressive disorder. Now it becomes a target of a drug company.”

    Thanks to DSM-5, Frances said, a drug company representative could go to primary care doctors – who do the majority of psychotropic drug prescribing in the United States -- and market an anti-depressant based on this new DSM criteria and not be illegally marketing the drug off-label.

    “This is the legalized conversion of a sacred ritual and an inherent part of being a mammal – mourning -- and turning it into a mental disorder,” he said. 

    Others have criticized the new guide for turning extreme childhood temper tantrums into a diagnosable condition -- “disruptive mood dysregulation disorder” -- while removing Asperger’s disorder as a separate diagnosis, folding it into the overall “autism spectrum disorder.”

    The APA strongly disagrees with Frances' criticisms. Dr. Jeffrey Lieberman, APA’s president-elect and the chair of the department of psychiatry at Columbia University, said personal slights and self-interest are part of the motivation behind Frances’ position.

    Leaders of DSM-5 “treated him disrespectfully” Lieberman said, “and it provoked him.”

    Attacking DSM-5 gives Frances a “new platform to become the savior of normal – that’s his book -- saving society from those irresponsible psychiatrists and the DSM,” he added.

    Medical diagnoses of all kinds have expanded over the last 100 years as science gained new knowledge, Lieberman argued, pointing out that in the 1800s, there were only two mental health diagnoses: idiocy and insanity. The new volume recognizes those advances.

    Arthur Caplan, the director of medical ethics at New York University’s Langone Medical Center, and a frequent contributor to NBC News, believes the controversy over new DSM criteria is misplaced.

    Just because something is common, or natural, like acne and tooth decay, doesn’t mean it shouldn’t be named as a condition. While Caplan agreed that there are abuses of diagnosis, medications and treatments, it’s not necessarily DSM’s fault. Even if something is diagnosable, he said, both doctors and patients are often too tempted to treat when doing nothing might be best.

    The problem isn’t with the new manual, but with a culture that demands a quick fix, making it easy for general practitioners, who may not see the same patient week after week, to accede, said Gail Saltz, a psychiatrist, psychotherapist and TODAY Show contributor. That can lead to over-diagnosis and, worse, overtreatment.

    What matters isn’t necessarily what the DSM says, but “are your symptoms impairing your functioning?” she explained.

    “If ‘Internet Addiction’ is in the DSM matters less than if you are sitting in front of a computer eight hours every day, because then you’re not functioning.”

    Brian Alexander (www.BrianRAlexander.com) is co-author, with Larry Young Ph.D., of "The Chemistry Between Us: Love, Sex and the Science of Attraction," (www.TheChemistryBetweenUs.com), now on sale.

    Related:

    • No 'crazy cat ladies': Hoarding gets new diagnosis
    • Asperger's being dropped from psychiatrists' guide

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  • 3
    days
    ago

    New SARS cousin finally has a name : MERS

    Cynthia Goldsmith / Maureen Metc / CDC

    Novel MERS coronavirus particles as seen by negative stain electron microscopy.

    By Maggie Fox, Senior Writer, NBC News

    Every virus needs a catchy name, and now the new coronavirus linked to the Middle East that has infected 40 people and killed half of them has one: Middle East Respiratory Syndrome Coronavirus or (MERS-CoV).

    Various scientists have been calling it MERS, but the Coronavirus Study Group, which groups experts from around the world, made it official on Thursday.

    “This name is endorsed by the discoverers of the virus and other researchers that pioneered MERS-CoV studies, by the World Health Organization and by the Saudi Ministry of Health. We strongly recommend the use of this name in scientific and other communications,” the group, led by Raoul de Groot of Utrecht University in the Netherlands, wrote in the Journal of Virology.

    The issue of naming viruses can be touchy. Usually, countries don’t want their names associated with diseases, and often geographical regions don’t either. That’s why names such as the “Hong Kong flu” aren’t used any more -- now influenza viruses carry genetic names such as H1N1 or H7N9.

    The MERS coronavirus is clearly linked to the Middle East, however. All patients have either been in, or have traveled to, Jordan, Qatar or Saudi Arabia -- or they have been infected by travelers from those countries. Cases have been seen in France, Germany and Britain.

    Researchers worried about what to name SARS when it broke out in 2003. It was first seen in China, but the World Health Organization finally settled on the name severe acute respiratory syndrome, or SARS. At the time it was named, expert had not yet figured out precisely what type of virus it was.

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    The new MERS virus is a distant cousin of SARS. Coronaviruses are a big family and they usually cause common cold-like symptoms in people. MERS appears to have come from bats, de Groot’s group reports.

    “The novel coronavirus seems most closely related to as yet unclassified viruses from insectivorous European and African bats in the Vespertilionidae and Nycteridae families, respectively,” they write.  It’s unlikely most patients were directly infected by bats, however, the Coronavirus Study Group said.  Bats have probably infected some other animal, which in turn is infecting humans, they said.

    But the virus can transmit from person to person, especially in hospitals, and that worries health officials. SARS spread easily in hospitals when it flashed around the world, infecting close to 8,000 people and killing 775 of them, before it was stopped.

    There’s no vaccine against MERS and antiviral drugs don’t appear to be of much use against it, either. The Centers for Disease Control and Prevention has told U.S. hospitals to take strict precautions if someone shows up with symptoms and has recently traveled to the Middle East. Health care workers in contact with such patients should wear special face masks, gloves and gowns and follow other protocols to protect themselves and other patients.

    The World Health Organization says there are more questions than answers about MERS. “We know this virus has infected people since 2012, but we don't know where this virus lives,” WHO says in a statement on its website.

    “We know that when people get infected, many of them develop severe pneumonia. What we don't know is how often people might develop mild disease. We also know that most of the persons who have been infected so far have been older men, often with other medical conditions. We are not sure why we are seeing this pattern and if it will change over time,” WHO added.

    “The greatest global concern, however, is about the potential for this new virus to spread.”

    Related:

    • SARS-like virus spread to health workers
    • Saudi Arabia confirms four new coronavirus cases
    • New virus likely spreads person to person
    • US safe so far from two new viruses

     

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  • 3
    days
    ago

    Attention deficit leads US kids' mental health problems, CDC reports

    Getty Images via CDC

    CDC's most comprehensive look yet at mental health shows ADHD affects close to 7 percent of US kids.

    By Maggie Fox, Senior Writer, NBC News

    The most comprehensive report on specific mental disorders in children shows attention deficit hyperactivity disorder (ADHD) is the most commonly diagnosed problem in kids aged 3-17, with close to 7 percent of kids having a diagnosis.

    Another 3.5 percent have behavioral problems, 3 percent have anxiety and 1.1 percent have autism. For teenagers, addiction to drugs, alcohol and tobacco are the most common issues, the Centers for Disease Control and Prevention reported on Thursday.

    These percentages translate into millions of children, said CDC’s Ruth Perou, who put the study together. She found that 6.8 percent of U.S. children have ADHD. “That’s about 4.18 million children,” Perou told NBC News.

    “This first report of its kind documents that millions of children are living with depression, substance use disorders, ADHD and other mental health conditions,” CDC director Dr. Tom Frieden said in a statement.

    “No parent, grandparent, teacher or friend wants to see a child struggle with these issues. It concerns us all. We are working to both increase our understanding of these disorders and help scale up programs and strategies to prevent mental illness so that our children grow to lead productive, healthy lives.”

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    It adds up to a lot of kids. “It is estimated that 13 –20 percent of children living in the United States (up to 1 out of 5 children) experience a mental disorder in a given year and an estimated $247 billion is spent each year on childhood mental disorders,” the report reads.

    The report takes data from many other surveys. The estimates on autism spectrum disorder might not be quite up to date. In March, CDC published a survey showing 2 percent of U.S. schoolkids – or about a million children – have been diagnosed with some sort of autism.

    Thursday’s report was finished before that latest data came out, Perou said.

    Behavioral disorders affect 2.1 million children, Perou says. “We are not looking at whether kids misbehave or are having a bad day,” she said. “What we are talking about is a child incapable of behaving well or playing well with others.”

    Children with a diagnosed behavioral disorder, such as oppositional defiance disorder, have constant conflicts with authority that affect their ability to attend school. “They are having such challenges in how they are dealing with emotions or behavior that it impairs their ability to lead their day-to-day lives,” Perou said.

    The survey confirms a lot of what experts already knew: autism, conduct disorders and ADHD are more common among boys; depression is more common among girls. More children were diagnosed as they got older.

    The data on adolescents aged 12 to 17 show a million teenagers are drug or alcohol abusers, and more than 695,000 are addicted to tobacco. This doesn’t mean casual use or experimentation, but serious addiction, Perou said. “You are looking at something that is debilitating and really impairs their ability to function day to day,” she said.

    The good news is that there are treatments for all the disorders, Perou said, and CDC is working to help come up with more approaches that work. “We can make a difference in their lives,” she said.

    CDC has information for teachers and parents on spotting mental illness in kids.

    The definitions for all the disorders come from the DSM-IV, the guide used by mental health professionals to diagnose and classify disease. A new version, the DSM-V, comes out Friday, and many of the changes have been widely leaked.

    Thursday’s report will set a baseline, so that changes in classifying mental health issues that come from changes in the DSM-V can be tracked, Perou said.

    Related:

    • Psychiatrists face off over new DSM
    • No more crazy cat ladies?
    • Kids at risk of suicide can get guns
    • Depressed kids earn less money later

     

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  • 3
    days
    ago

    No. 1 swimming pool problem? It's number two!

    Mario Tama / Getty Images

    A lifeguard keeps watch on opening day of the McCarren Park Pool, June, 2012 in Brooklyn. CDC researchers found evidence of feces in many US pools.

    By Maggie Fox, Senior Writer, NBC News

    People always worry about pee in the pool, but number two is the No. 1 problem, government health experts say. They found plenty of evidence that someone’s pooping in the pool.

    It’s not only disgusting, but it’s evidence that people are not following basic hygiene rules, says Michele Hlavsa, chief of the Centers for Disease Control and Prevention’s Healthy Swimming Program.

    “It is time to stop treating the swimming pool as a toilet,” Hlavsa told NBC News. “Nowhere else except for the pool is it acceptable to poop in public or pee in public. In other places if we did this in public, we’d be arrested.”

    CDC and county health officials tested the pools in four Georgia counties last summer for the study. They got water out of the pool filters and ran tests for microbes – especially E. coli, which lives inside the bodies of animals and which is carried in feces. If E. coli is somewhere, it likely got there via feces.

    “Escherichia coli, a fecal indicator, was detected in 93 (58 percent) samples; detection signifies that swim­mers introduced fecal material into pool water,” Hlavsa’s team wrote in CDC’s weekly report on disease and death.

    “We don’t know how it got in there. It either washed off somebody’s body or somebody had a bowel movement in the pool,” Hlavsa said.

    Regular bowel movements – what CDC delicately refers to as a “formed fecal incident” – isn’t so much a worry. But diarrhea is. Diarrhea carries the germs that caused the illness right into the water, and the chlorine doesn’t kill it instantly.

    The good news is that there were no reports of sickness outbreaks at any of the pools tested last summer – or anywhere else in Georgia last summer, for that matter, Hlavsa says. But every year there are between 20 and 80 disease outbreaks associated with public pools – and those are just the ones that get reported, Hlavsa says.

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    The other piece of good news is that there weren’t too many other pathogens in the pools. Only one sample of Cryptosporidium, a common cause of diarrhea, showed up. Two samples of a parasite called Giardia were found – that one can cause a very uncomfortable stomach upset. Viruses such as adenovirus, which causes colds, and norovirus, which causes "stomach flu," can survive in swimming pools.

    The E. coli in the pool didn’t necessarily come from a bowel movement, Hlavsa said -- and this is why it’s important to actually obey the signs that virtually everyone ignores about showering before going into the pool.

    “The average person has about .14 grams of feces on their rear end,” Hlavsa said. “If that rinses off into the water, the amount from one person might not be that much. But as more and more swimmers introduce it that much, it does become an issue.”

    She’s actually done the math.

    “Let’s imagine 1,000 kids go to a water park. They have as much as 10 grams of feces on their rear ends,” she said.  “We are now talking about 10,000 grams or 10 kg. That translates to 24 pounds of poop in the water.”

    So one important rule – never swallow the water from a swimming pool. “Basically, these pools are big bathtubs we all share together,” Hlavsa said.

    She doesn’t want to scare anyone away from swimming, which is, after all, a great way to exercise. “As soon as the weather gets warm enough here in Atlanta, I plan to swim,” Hlavsa said.

    Related:

    • One in eight pools closed for filth
    • Cruise ships see rise in norovirus outbreaks
    • Colds nastier in summer

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  • 3
    days
    ago

    Doctors detail Angelina Jolie's breast surgery

    By Marilynn Marchione, The Associated Press

    Angelina Jolie's mother had breast cancer and died of ovarian cancer, and her maternal grandmother also had ovarian cancer — strong evidence of an inherited, genetic risk that led the actress to have both of her healthy breasts removed to try to avoid the same fate, her doctor says.

    Jolie, 37, revealed on Tuesday that she carries a defective BRCA1 gene that puts her at high risk of developing breast and ovarian cancer. She had mastectomies in February followed by reconstruction with implants in April, Dr. Kristi Funk said in an interview with The Associated Press.

    Funk treated Jolie at the Pink Lotus Breast Center in Beverly Hills and detailed her care on the center's website. She would not disclose when Jolie learned she carried the faulty gene, which gives a woman up to an 87 percent lifetime risk of developing breast cancer and up to a 54 percent chance of ovarian cancer.

    "This family history would certainly meet any insurance carrier's criteria to cover genetic testing," Funk wrote.

    It is unclear whether Jolie will have her ovaries removed, although she wrote in her op-ed piece in the New York Times that she "started with the breasts" because they posed the highest cancer risk.

    Removing the ovaries is often advised for women with such gene mutations, said Dr. Charis Eng, a medical geneticist and cancer specialist at the Cleveland Clinic who had no role in Jolie's care.

    "We usually say 'try to have your kids'" and then have your ovaries removed by age 40, Eng said. It's not possible to remove every speck of breast tissue, but removing the breasts and ovaries leaves very little behind that could develop cancer, so it dramatically lowers a woman's risks, she said.

    On the surgery center's website, Funk described Jolie's three operations, which were done through the crease underneath each breast. Jolie's partner, actor Brad Pitt, "was on hand to greet her as soon as she came around from the anesthetic, as he was during each of the operations," Funk wrote.

    On Feb. 2, Jolie had a procedure aimed at preserving the nipples, which usually are removed when a mastectomy is done to treat breast cancer. Half of the skin is lifted from the surface of the breast tissue and a small disc of tissue is taken to be checked for cancer.

    The tissue proved healthy and on Feb. 16 she had the two mastectomies. Doctors also took an unusual step: injecting dye to determine which lymph nodes in her arms were draining fluid from the breasts. Those nodes would be most likely to contain cancer if any turned out to be lurking in the breast, Funk explained.

    When a preventive mastectomy is done, "there's a 2 to 8 percent chance" of finding cancer, even though there was no indication of cancer beforehand, Funk said. Stitches or a tiny clip can be placed to show the location of these key "sentinel" lymph nodes in case Jolie ever were to develop cancer in the future and those nodes would need to be checked again.

    Also during this operation, doctors placed a tissue expander, a balloon-like device that is slowly inflated with saline to stretch the skin and make room for a permanent implant. Even though the implant could have been done at the time of the mastectomy, Jolie chose the two-step procedure to optimize the final cosmetic appearance.

    Four days after her mastectomies, "I was pleased to find her not only in good spirits with bountiful energy, but with two walls in her house covered with freshly assembled storyboards for the next project she is directing," Funk wrote on the website.

    On April 27, doctors did her reconstruction, using a newer teardrop-shaped implant plus sheets of cadaver skin, which "creates like a sling under the implant" to give a more natural look, Funk said.

    The website describes how women with gene mutations that raise their risk for cancer are monitored starting at age 18, but Funk said she could not disclose when Jolie was tested and learned she had the BRCA1 gene. About 5 percent to 10 percent of breast cancers and about 15 percent of ovarian cancers are thought to be due to BRCA gene mutations.

    Related:

    More opt for preventive mastectomy

    Don't judge us, mastectomy patient says

    © 2013 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

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  • 4
    days
    ago

    MRIs could make baby autopsies more acceptable

    By Kate Kelland
    Reuters 

    Bereaved parents who do not want to see their dead babies go through a conventional autopsy could in future be offered a less invasive option which uses magnetic resonance imaging and blood tests to establish the cause of death. 

    Scientists who investigated using a combination of full body scans and sample tests found this so-called minimally invasive autopsy (MIA) was as effective in determining the cause of death as a conventional procedure, which involves an open dissection of the baby's body to examine the organs.

    Since the vast majority of parents whose babies die during or soon after birth currently refuse any autopsy, the researchers suggested the MIA could both improve rates of uptake and reduce parents' distress while offering clear answers.

    "Autopsies not only help us to establish the cause of death, but they often play an important role in advancing medical research and knowledge," said Andrew Taylor, a consultant radiologist at London's Great Ormond Street Hospital and University College Hospital who co-led the study.

    "If we can find ways to continue to carry them out using less invasive methods, such as post-mortem MRI, we can boost our understanding of the many ways in which the body can go wrong."

    In a study published in the journal the Lancet, Taylor and colleague Sudhin Thayyil, a consultant neonatologist, compared the accuracy of a standard autopsy with that of whole-body, post-mortem MRI with or without other minimally invasive tests.

    These included blood samples taken by needle, visual examination of the body and genetic and metabolic tests.

    The study involved 400 cases of  foetuses, babies and children under 16 years old.

    For foetuses and babies younger than a year, the MIA identified the same cause of death as the full autopsy for 92 percent of the cases studied, while in children aged one to 16, the MIA techniques were less accurate, with 54 percent of the two types of autopsies agreeing on cause of death.

    The researchers said the difference in accuracy was probably because MRI was good at picking up abnormalities in organ structure or function, which are more likely to be causes of death in young babies, but unable to detect infections, which are more likely to be a cause of death in older children.

    Experts say that currently in Britain, some 80 percent of parents whose baby dies shortly after birth refuse consent for a post mortem. This is despite evidence that autopsies find new and useful information in the majority of cases.

    In the United States, Thayyil said, rates of autopsy in babies are even lower. 

    "In a state of shock and grief, parents are asked if they will consent, and while they desperately want answers about why their baby died, many simply cannot contemplate what a post mortem entails," said Charlotte Bevan of Sands, a charity that campaigns for more research into stillbirth and neonatal death.

    "Giving parents the option to have a less invasive but equally informative investigation will not only make the decision easier ... but could lead to an increase in post mortem up-take and vastly improved research into why so many babies are stillborn or die shortly after birth."

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  • 4
    days
    ago

    SARS-like virus spread to health workers, officials say

    By Mike Stobbe, AP

    NEW YORK  -- A deadly new respiratory virus related to SARS has apparently spread from patients to health care workers in eastern Saudi Arabia, health officials said Wednesday.

    The Ministry of Health in Saudi Arabia told world health officials that two health care workers became ill this month after being exposed to patients with the virus. One is critically ill.

    Since September 2012, the World Health Organization has been informed of 40 confirmed cases of the virus, and 20 of the patients have died. The deaths occurred in in France, Germany, Saudi Arabia, Jordan, Qatar and the United Kingdom.

    Experts have suggested calling the new virus MERS, for Middle East Respiratory Syndrome, but officials have not signed off on that yet.

    Experts are watching carefully for signs that the deadly virus can spread from person-to-person. Health officials say the virus has likely already spread between people in some circumstances, including hospital patients in France. But the confirmed spread to nurses or other health care workers is new.

    The new virus has caused severe respiratory disease in patients, some of them needing mechanical ventilators to help them breathe.

    One of the Saudi health care workers is a 45-year-old man who is in critical condition. The other is a 43-year-old woman in stable condition. No other details about their jobs or where they work were released.

    The new virus has been compared to SARS, an unusual pneumonia that first surfaced in China in late 2002 and erupted into a deadly international outbreak in early 2003. Spread of the virus in hospitals was a key development in the epidemic.

    Ultimately, more than 8,000 cases were reported in about 30 countries, including eight people in the United States. The global tally included 774 deaths.

    The SARS outbreak was declared contained by the summer of 2003, thanks to such measures as quarantines, hospital isolation of suspected cases, travel restrictions and the screening of airline passengers.

    The WHO is currently not recommending any travel restrictions or special screening at airports or border crossings. Officials worry it will flare into an outbreak as big or worse. The new virus and SARS are both coronaviruses, a germ family that includes some cold viruses.

    The new virus is distinct from SARS, but health officials worry it has potential to flare into a SARS-like international outbreak. But many questions remain about how it is spread, where it originated, and how deadly it truly is.

    Related: 

    • SARS-like virus can probably spread person-to-person
    • Bird flu: US safe from two new viruses -- so far

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  • 4
    days
    ago

    Doctors doubt nurses skills, survey finds

    By Maggie Fox, Senior Writer, NBC News

    Nurse practitioners are staffing retail health clinics, diagnosing and treating ills from strep throat to conjunctivitis. They’re giving flu shots and prescribing drugs. And the influential Institute of Medicine says they should not only work side by side with physicians, but replace them in some cases.

    But a survey published on Wednesday shows a huge gap between what nurse practitioners think they can and should do, and what doctors think. And that’s bad news for patients, Karen Donelan of the Mongan Institute for Health Policy at Massachusetts General Hospital says.

    “We were surprised by the level of disagreement reported between these two groups of professionals," says Donelan, who led the survey published in the New England Journal of Medicine.

    Her team’s survey of 467 nurse practitioners and 505 physicians found both groups agree that nurse practitioners should practice “to the full extent of their education and training.” Where the disconnect comes is just what this training should allow them to do, and how much they should get paid for it.

    Only 17 percent pf physicians agreed that nurse practitioners should coordinate a patient’s care as a leader of a “medical home”, versus more than 82 percent of the nurse practioners, the survey found. And only 3.8 percent of doctors felt that a nurse practitioner should be paid the same for providing the same service as a physician, compared to 64 percent of the nurse-practitioners.

    “At the core of the controversy is whether nurse practitioners have the education and experience to provide high-quality services and lead clinical practices without supervision by a physician,” Donelan’s team wrote.

    The Institute of Medicine tried to settle that question in a 2010 report, saying that nurses can handle much of the strain on the health care system and should be given both the education and the authority to take on more medical duties.

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    But the American Medical Association, which represents about 120,000 practicing physicians and students, rejected the idea immediately.

    "Nurses are critical to the health care team, but there is no substitute for education and training," the AMA said at the time.

    The Association of American Medical Colleges estimates that by 2015, the United States will be short about 62,100 physicians. Many experts are looking to the 180,000 nurse practitioners now in the field to help cover the gaps.

    When the Robert Wood Johnson Foundation set up a series of meetings among doctors’ and nurses’ guilds to try to smooth out the disagreements in 2011, things looked up until the organizers issued a report urging less hierarchy, says John Iglehart of the journal Health Affairs in a separate commentary in the New England Journal. “The `captain of the ship' notion  … needs to be eliminated, focusing on the patient as the driver of care,” the report read. “A physician, nurse, social worker or other provider may take the lead in a given situation.’

    The American Academy of Family Physicians,  American Osteopathic Association and the American Academy of Pediatrics pulled out and the whole attempt collapsed, Iglehart says.

    Dr. David Blumenthal and Melinda Abrams of the Commonwealth Fund said the survey confirmed that doctors and nurse practitioners often “inhabit different universes”.  And clearly they have different training and skills. Nurse practitioners, often referred to as advanced practice registered nurses, usually have a four-year bachelor's degree with at least a master's degree and sometimes a doctorate beyond that, depending on the requirements of their state.

    But nurse practitioners can fill the growing gap in the supply of health care prviders for the U.S., they argued. “The existing literature shows that nurse practitioners provide care similar to that of physicians with respect to health outcomes, resource utilization, and cost, and the same studies show that nurse practitioners get higher grades than physicians with respect to communication with patients seeking urgent care,” they wrote.

    Jan Towers, policy director for the American Association of Nurse Practitioners, saw it coming. “There is nothing surprising there,” she said in a telephone interview. “The disconnect has been there a long time.”

    She thinks relationships will improve as doctors and nurse practitioners work together more. A bigger issue, Towers says, is the way the U.S. healthcare system pays for care. “How do we institute value-based purchasing so that we look at outcomes rather than who is performing the task?” she asked.

    Once the medical system evolves toward taking care of a patient’s health, instead of the current system of paying for each individual test, treatment or consultation, the differences should even out, she predicts.

    Donelan isn’t so hopeful. “Our findings suggest that a substantial number of primary care physicians are unlikely to embrace policy recommendations aimed at further expansion of the roles and supply of nurse practitioners,” her team wrote.

    “In particular, physicians' concerns about the likely effect of an expanded workforce of nurse practitioners on several aspects of health care quality need to be addressed in discussions of strategy for the development of the U.S. health care workforce.”

    Peter Buerhaus, director of the Center for Interdisciplinary Health Workforce Studies at Vanderbilt University and a registered nurse with a Ph.D who worked on the survey team, agreed.

    "It is unsettling that primary care physicians and nurse practitioners, who have been practicing together for several decades, seem so far apart in their perceptions of each other's contributions. I am concerned that these large gaps in perceptions will inhibit efforts to redesign care delivery and to improve the productivity and configuration of the primary care workforce,” Buerhaus said in a statement.

    Related:

    • Nurses need a more independent role, report argues
    • Major doctor shortage coming
    • Shortage of family doctors predicted by 2020

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  • 4
    days
    ago

    Psychiatrists, critics face off over psychiatric manual

    By LINDSEY TANNER , The Associated Press

    CHICAGO -- In the new psychiatric manual of mental disorders, grief soon after a loved one's death can be considered major depression. Extreme childhood temper tantrums get a fancy name. And certain "senior moments" are called "mild neurocognitive disorder." 

    Those changes are just some of the reasons prominent critics say the American Psychiatric Association is out of control, turning common human problems into mental illnesses in a trend they say will just make the "pop-a-pill" culture worse.

    Says a former leader of the group: "Normal needs to be saved from powerful forces trying to convince us that we are all sick."

    At issue is the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, widely known as the DSM-5. The DSM has long been considered the authoritative source for diagnosing mental problems.

    The psychiatric association formally introduces the nearly 1,000-page revised version this weekend in San Francisco. It's the manual's first major update in nearly 20 years, and a backlash has taken shape in recent weeks:

    • Two new books by mental health experts, "Saving Normal" and "The Book of Woe," say the world's most widely used psychiatric guide has lost credibility. 
    • A British psychologists' group is criticizing the DSM-5, calling for a "paradigm shift" away from viewing mental problems as a disease. An organization of German therapists also attacked the new guide. 
    • Even the head of the U.S. National Institute of Mental Health complained that the book lacks scientific validity. 

    This week, the NIMH director, Dr. Thomas Insel, tried to patch things up as he and the psychiatrists group issued a joint statement saying they have similar goals for improving the diagnosis and treatment of mental illness.

    The manual's release comes at a time of increased scrutiny of health care costs and concern about drug company influence over doctors. Critics point to a landscape in which TV ads describe symptoms for mental disorders and promote certain drugs to treat them.

    "Way too much treatment is given to the normal 'worried well' who are harmed by it; far too little help is available for those who are really ill and desperately need it," Dr. Allen Frances writes in "Saving Normal." He is a retired Duke University professor who headed the psychiatry group's task force that worked on the previous handbook.

    He says the new version adds new diagnoses "that would turn everyday anxiety, eccentricity, forgetting and bad eating habits into mental disorders."

    Previous revisions were also loudly criticized, but the latest one comes at a time of soaring diagnoses of illnesses listed in the manual - including autism, attention deficit disorder and bipolar disorder - and billions of dollars spent each year on psychiatric drugs.

    The group's 34,000 members are psychiatrists - medical doctors who specialize in treating mental illness. Unlike psychologists and other therapists without medical degrees, they can prescribe medication. While there has long been rivalry between the two groups, the DSM-5 revisions have stoked the tensions.

    The most contentious changes include:

    • Diagnosing as major depression the extreme sadness, weight loss, fatigue and trouble sleeping some people experience after a loved one's death. Major depression is typically treated with antidepressants. 
    • Calling frequent, extreme temper tantrums "disruptive mood dysregulation disorder," a new diagnosis. The psychiatric association says the label is meant to apply to youngsters who in the past might have been misdiagnosed as having bipolar disorder. Critics say it turns normal tantrums into mental illness. 
    • Diagnosing mental decline that goes a bit beyond normal aging as "mild neurocognitive disorder." Affected people may find it takes more effort to pay bills or manage their medications. Critics of the term say it will stigmatize "senior moments." 
    • Calling excessive thoughts or feelings about pain or other discomfort "somatic symptom disorder," something that could affect the healthy as well as cancer patients. Critics say the term turns normal reactions to a disease into mental illness. 
    • Adding binge eating as a new category for overeating that occurs at least once a week for at least three months. It could apply to people who sometimes gulp down a pint of ice cream when they're alone and then feel guilty about it. 
    • Removing Asperger's syndrome as a separate diagnosis and putting it under the umbrella term "autism spectrum disorder." 

    Dr. David Kupfer, chairman of the task force that oversaw the DSM-5, said the changes are based on solid research and will help make sure people get accurate diagnoses and treatment.

    Dr. Jeffrey Lieberman, the psychiatry association's incoming president, said challenging the handbook's credibility "is completely unwarranted." The book establishes diagnoses "so patients can receive the best care," he said, adding that it takes into account the most up-to-date scientific knowledge.

    But Insel, the government mental health agency chief, wrote in a recent blog posting that the guidebook is no better than a dictionary-like list of labels and definitions.

    He told The Associated Press he favors a very different approach to diagnosis that is based more on biological information, similar to how doctors diagnose heart disease or problems with other organs.

    Yet there's scant hard evidence pinpointing what goes wrong in the brain when someone develops mental illness. Insel's agency two years ago began a research project to create a new way to diagnose mental illness, using brain imaging, genetics and other evolving scientific evidence. That project will take years.

    The revisions in the new guide were suggested by work groups the psychiatric association assigned to evaluate different mental illnesses and recent research advances. The association's board of trustees decided in December which recommendations to include.

    Advocacy groups have threatened Occupy-style protests and boycotts at this week's meeting.

    "The psychiatric industry, allied with Big Pharma, have massively misled the public," the Occupy Psychiatry group contends. Organizers include Alaska lawyer Jim Gottstein, who has long fought against overuse of psychiatric drugs.

    The new manual "will drastically expand psychiatric diagnosis, mislabel millions of people as mentally ill, and cause unnecessary treatment with medication," says the website for the Committee to Boycott the DSM-5, organized by New York social worker Jack Carney.

    Committee member Courtney Fitzpatrick, whose 9-year-old son died seven years ago while hospitalized for a blood vessel disease, said she has joined support groups for grieving parents "and by no means are we mentally ill because we are sad about our kids that have died."

    Gary Greenberg, a Connecticut psychotherapist and author of "The Book of Woe," says pharmaceutical industry influence in psychiatry has contributed to turning normal conditions into diseases so that drugs can be prescribed to treat them.

    Many of the 31 task force members involved in developing the revised guidebook have had financial ties to makers of psychiatric drugs, including consulting fees, research grants or stock.

    Group leaders dismiss that criticism and emphasize they agreed not to collect more than $10,000 in industry money in the calendar year preceding publication of the manual.

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  • 4
    days
    ago

    Ethicist: Cloning offers more cause for excitement than concern

    By Art Caplan, Ph.D.

    It has finally happened – the technique used in 1996 to make Dolly, the world’s first cloned mammal, has finally been used in 2013 to make the world’s first cloned human embryo. Despite a history in the years after Dolly of nuts, crackpots, frauds and charlatans announcing that they had either cloned embryos or cloned babies--who can forget the Raelians with their star fleet uniforms announcing the creation of multiple clone baby births to a credulous press core—we have an announcement that is the real deal. A team of experts in cloning at Oregon Health Sciences University who have extensive experience and success with primate cloning have announced the cloning of human embryos.

    This announcement is sure to set off a heated debate about the morality of what they have done and what could be done with cloned human embryos. But while there is some reason for concern, there is more reason for excitement.

    The Oregon team has been trying to clone human embryos for many years. Why? Not to produce cloned people but to have a source of stem cells useful for the treatment of diseases.

    Those who oppose manipulating embryos to generate stem cells -- and their number is huge -- will be blasting away at what has been achieved.

    But before they try to freak you out with terrifying images of clone armies directed by despots (think “Star Wars: Episode II - Attack of the Clones”), the unmourned dead coming back to life via cloning (think Osama bin Laden) or the creation of multiple copies of particularly odd or dangerous people (think of dozens of versions of Lindsay Lohan or Charlie Sheen in your neighborhood), remember that the whole point of cloning research is to come up with stem cells that have the same genetic makeup as the person who needs them.

    Stem cells can be obtained from human embryos at fertility clinics. But the cells that are made from them will not match those to whom they might be transplanted to repair macular degeneration, spinal cord injury or diabetes. Through cloning you can take a disabled or sick person's DNA from one of their body cells, insert it into a human egg from which the DNA has been removed, fuse the cell electrically (the technique used in Oregon) and create an embryo from which cells can be grown that are identical matches to what the sick or disabled person needs.

    There are certainly crucially important ethical issues that cloning raises.  Should anyone be allowed to try to make people using cloning? Most assuredly not until cloning efforts with animals prove far safer then they currently are. Many animals made via cloning die in utero, are stillborn or have a variety of serious health issues as did Dolly, the first cloned sheep. For now, banning human reproductive cloning—not cloning for stem cell research, as many nations have already done -- ought to be a legislative priority in the U.S. and around the world.

    If we are going to need eggs to clone human embryos, then where are they coming from? Most likely in the short run from donors who will have to fully understand what their eggs will be used to create. Whether paid sellers of eggs will be needed in the future remains to be seen, but that is not yet likely to be a problem.

    And some will say we don’t need to make cloned embryos to get stem cells because there are other ways to get them. There are other ways but this may prove to be the best way medically to get the regenerative cells that so many could benefit from.

    Cloning a human embryo to create stem cells has been a dream for many scientists since Dolly was born. Cloning a human embryo has been a source of ethical nightmares for many theologians, ethicists and scientists since Dolly was born. It has now time to decide if we can manage a technology that holds great promise while assuring those who fear its abuse that their concerns will be fully addressed.

    Arthur Caplan, Ph.D., is the head of the Division of Medical Ethics at NYU Langone Medical Center.

    Related stories:

    Cloning technique produces human stem cells for first time

    Ethicist: Fixing genes using cloning technique is worth ethical risk

     

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