The “Deadly Breast Cancer Gene” is a Myth, Lancet Study Confirms


A powerful new Lancet study reveals that the so-called breast cancer susceptibility genes — BRCA 1 and BRCA 2 — do not, in fact, cause breast cancer. This means Angelina Jolie’s prophylactic mastectomy, for instance, was for naught. 

new Lancet Oncology study, reported widely in the mainstream media, confirms that the so-called “breast cancer genes” (i.e. BRCA1/2) do not have the power to determine breast cancer survival outcomes, as widely believed by the medical profession.

The study, titled “Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study“, found:

“[There is] no significant difference in overall survival or distant disease-free survival between patients carrying a BRCA1 or BRCA2 mutation and patients without these mutations after a diagnosis of breast cancer.”

The BBC broke down the study’s findings in greater detail, in their online article titled, Breast cancer survival ‘unaffected by faulty gene“:

“The study, published in The Lancet Oncology, found 12% of 2,733 women aged 18 to 40 treated for breast cancer at 127 hospitals across the UK between 2000 and 2008 had a BRCA mutation.

“The women’s medical records were tracked for up to 10 years.

“During this time, 651 of the women died from breast cancer, and those with the BRCA mutation were equally likely to have survived at the two-, five- and 10-year mark as those without the genetic mutation.

“This was not affected by the women’s body mass index or ethnicity.

“About a third of those with the BRCA mutation had a double mastectomy to remove both breasts after being diagnosed with cancer. This surgery did not appear to improve their chances of survival at the 10-year mark.”

The study has powerful implications for the future of breast screening programs and the standard of care for ‘breast cancer’ patients. So powerful is the belief that BRCA genes ’cause’ breast cancer, that millions around the world consider it fact. Celebraties like Angelina Jolie have added fuel to the fire of this dangerous myth, by electing to have her breasts removed ‘prophylactically’ due to her BRCA status and the recommendations of her physicians. I discussed questionable nature of this decision in a previous article, titled “Did Angelina Jolie Make A Mistake By Acting On The ‘Breast Cancer Gene’ Theory?”and elaborated further on the topic in an article titled Pinkwashing Hell: Breast Removal as a Form of ‘Prevention“.

In the excerpt below from the Discussion portion of the new Lancet Oncology paper, researchers not only failed to find a causal link between the BRCA genes and overall breast cancer survival, but noted that some BRCA mutation carriers (diagnosed with triple negative breast cancer) may actually have improved survival relative to non-mutation carriers:

“We found no clear evidence that either BRCA1 or BRCA2 germline mutations significantly affect overall survival with breast cancer after adjusting for known prognostic factors. Decisions about timing of risk-reducing surgery should take into account primary tumour prognosis and patient preference. BRCA mutation carriers presenting with triple-negative breast cancer might have an improved survival during the first few years after diagnosis compared with non-carriers, although immediate bilateral mastectomy did not account for this advantage. Finally, analysis of early outcome data from trials exploring BRCA-deficient tumour treatment in patients with triple-negative breast cancer should be interpreted with caution in view of the possible early survival advantage for BRCA mutation carriers.” 

While this finding may be surprising to those who have been led to believe that the BRCA gene ‘mutation’ status is a death sentence, we have spent the past few years debunking this  misinformation by looking at the non-industry funded evidence itself. Millions of women have already been needlessly traumatized by overdiagnosis and overtreatment of non-cancerous, indolent growths of epithelial origin such as ductal carcinoma in situ (DCIS). The “BRCA gene causes breast cancer” meme is another example of a mythical entity which has brought significant harm to women in the name of ‘saving  lives.’ It has been leveraged by private and governmental interests alike to corral populations into cancer screening programs, whose results have often run contrary to their stated objectives of preventing suffering.

Angelina Jolie Talks About Her Menopause . There Is A Reason Why Every Woman Should Read It!


Jolie

 

Angelina Jolie and Brad Pitt’s love story has always given us some major relationship goals. Jolie’s health has time and again gone for a toss, but Brad Pitt has always proved to be one of her biggest strengths! It was in 2013 that as a preventive measure against cancer, Angelina Jolie had to get her ovaries and fallopian tubes removed after undergoing a preventive mastectomy. Due to this, Jolie is experiencing a premature onset of menopause.

While many women in their mid-life crisis dread menopause, Jolie is enjoying this phase. Yes, ‘enjoying’! Angelina confessed that she actually loves being in menopause and that she is very fortunate that she hasn’t had a terrible reaction to it. She further says that she feels older and settled in being older. Angelina further asserts that she is happy that she has grown up and that she doesn’t wants to be young again.

After her surgery in 2013, she had described her stint with surgeries in March saying, “I actually love being in menopause. I will not be able to have any more children, and I expect some physical changes. But, I feel at ease with whatever will come, not because I am strong but because this is a part of life. It is nothing to be feared.”

Angelina Jolie

HarpersBazaar

However, Jolie got candid about her biological changes as she went on to say, “I haven’t had a terrible reaction to it, so I’m very fortunate. I feel older, and I feel settled being older.”Mother of six kids, Jolie is taking ‘aging’ as sportingly as she could and she revealed:  “I feel happy that I’ve grown up. I don’t want to be young again.” Jolie also revealed how grateful he is of her husband, Brad Pitt, who was there by her side every step of the way! “

Brad Pitt too added, “It was mature. It was just another one of those things in life that makes you tighter, and she was doing it for the kids, and she was doing it for her family so we could be together.” 

Morning Break: Mammograms’ Hidden Costs, Ebola Mistakes


Health news and commentary from around the Web, gathered by the MedPage Today staff.

What are the hidden costs of mammograms? NPR reports. And why are some doctorsreluctant to screen smokers for lung cancer?

Did the U.S. make the wrong investments in Ebola treatment facilities in Liberia (New York Times)? And a facility in Sierra Leone where Partners In Health worked, and where two clinicians were infected with the virus, had a pattern of safety lapses.

Angelina Jolie’s story may be convincing a lot of women to have genetic tests for cancer, butinsurance companies are balking at paying for them, Reuters reports.

Iron(y) Man? The U.S. Olympians’ health plan doesn’t meet ACA criteria, The Washington Postreports.

What could go wrong when doctors treat their own kids?” asks John Henning Schumann, MD, who is also married to a doctor.

Have you heard of a “penile plethysmograph?” Thanks to the Darren Sharper case, now you have.

Thinking about going to an international medical school? Best think twice if you want to become a surgeon, says Skeptical Scalpel.

MedPage TodaySlow Medicine” columnist Pieter Cohen, MD, points out problems with dietary supplements meant to replace ephedra on CBS This Morning.

When a hospital’s case review finds that a misdiagnosis led to a child’s death, is it OK not to tell the grieving parents? You might be surprised at The Ethicists’ verdict. (New York Times Magazine; 2nd item)

Dear doctors who treated Germanwings Flight 9525 co-pilot: “The dilemma of weighing risk to others against the need for patient confidentiality,” writes Steven Moffic, MD.

The FDA warned researchers against making claims about a new diagnostic test for chronic traumatic encephalopathy (New York Times).

Larry Husten has “two dirty little secrets about electronic health records.”

 What’s your “dangerous idea” for health care?

Nutritional “science” may not be all that scientific, says Heather Tirado Gilligan in Slate.

Telemedicine may not have a bright future in Texas, after a vote by the state’s medical board on Friday (New York Times).

“The CMS intends to give more flexibility to hospitals, office-based physicians and other healthcare providers to meet federal targets for the meaningful use of electronic health records,” Modern Healthcare reports.

The outbreak of HIV linked to intravenous prescription drug abuse in Indiana has now infected more than 100 people.

Several different IV fluid products sold by Baxter have been recalled, including multiple lots of sodium chloride, dextrose, and lactated Ringer’s solution.

One weird trick to reverse baldness — and we do mean weird.

Angelina Jolie Has Ovaries Removed


Angelina Jolie is recovering after having her ovaries and fallopian tubes removed on the advice of a doctor who detected a possible early sign of cancer.

The Tomb Raider star underwent a double mastectomy in 2013 after discovering she was at high risk of developing cancer, which runs in her family, and on Tuesday (24Mar15), the actress announced she has undergone a further operation and is now unable to have any more children naturally. Jolie opted to have her ovaries and fallopian tubes removed after her doctor detected a potential early marker of cancer during a routine test earlier this month (Mar15).

In an article for The New York Times online, she writes, “I went through what I imagine thousands of other women have felt. I told myself to stay calm, to be strong, and that I had no reason to think I wouldn’t live to see my children grow up and to meet my grandchildren.” She recalls phoning her husband Brad Pitt, who “was on a plane within hours” from France to help her make a decision, and she underwent the surgery last week (ends22Mar15). During the procedure, a small benign tumour was discovered on one of her ovaries and the 39 year old is now going through the menopause.

She writes, “It is not possible to remove all risk, and the fact is I remain prone to cancer. I will look for natural ways to strengthen my immune system. I feel feminine, and grounded in the choices I am making for myself and my family. I know my children will never have to say, ‘Mom died of ovarian cancer’. “Regardless of the hormone replacements I’m taking, I am now in menopause. I will not be able to have any more children, and I expect some physical changes. But I feel at ease with whatever will come, not because I am strong but because this is a part of life. It is nothing to be feared. “I feel deeply for women for whom this moment comes very early in life, before they have had their children. Their situation is far harder than mine… It is not easy to make these decisions. But it is possible to take control and tackle head-on any health issue. You can seek advice, learn about the options and make choices that are right for you. Knowledge is power.”

Jolie and Pitt have six children together – three adopted kids and three biological.

Universal BRCA Testing ‘Would Break the Bank’


Editor’s Note: The scientist who identified the BRCA1 gene has recommended that all women get tested for genetic mutations[1,2]—but who will pay for it?

It’s been called the “Angelina Jolie effect.”

Shortly after the actress announced that she carried a genetic mutation that dramatically increased her odds of developing breast and ovarian cancer,[3] referrals for both genetic counselling and BRCA testing rose dramatically. As reported recently at the 2014 Breast Cancer Symposium, twice as many women were tested for BRCA1/2 mutations in a North American clinic in the 6 months following Jolie’s announcement than the clinic normally handled.[4] In the United Kingdom, the number of referrals for genetic counselling and testing in the UK increased two and a half times in the months that followed Jolie’s announcement, as compared with the same period in 2012.[5]

It is well established that inherited mutations in BRCA1 and BRCA2 genes can predispose women to an extremely high risk of developing breast and ovarian cancer, but hereditary risk accounts for only a small fraction of these cancers in the general population. These particular mutations are rare, found in about 2% to 4% of women,[6,7] and tend to be observed in those with a family history of breast and ovarian cancer as well as certain subgroups.

But should all women be tested, even if their risk of carrying the mutation is seemingly low? And if so, who should bear the cost of testing and follow-up?

Jolie had a BRCA1 mutation coupled with a strong family history. Her mother and maternal grandmother died of ovarian cancer, and her aunt died of breast cancer in May 2013, shortly after Jolie revealed that she had undergone preventive surgery. For women with strong family histories, testing makes sense, especially when breast cancer occurs before the age of 50, according to current guidelines.[8]
However, a trio of scientists, including one whose laboratory first identified the BRCA mutation and its relationship to the risk for breast and ovarian cancer, are calling for BRCA testing to be made routine.

Mary-Claire King, PhD, professor of genome sciences, University of Washington, Seattle, and co-authors Ephrat Levy-Lahad, MD, director of the Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel, have recommended that genetic screening for BRCA1 and BRCA2 should be routinely offered to every woman at about the age of 30.[1,2]

Dr King was the recent recipient of the 2014 Lasker-Koshland Special Achievement Award in Medical Science for her work in identifying the BRCA1 gene mutation. Writing in a JAMA viewpoint article,[1] she and her coauthors urge that screening be offered to all women because “many women with mutations in these genes are identified as carriers only after their first cancer diagnosis because their family history of cancer was not sufficient to suggest genetic testing. To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention.”

Needless to say, not all experts share her views. Some question whether this type of screening is really warranted given the low incidence of the mutation in the general public, and whether the benefit of universal screening outweighs the harms.

Universal Testing Would ‘Break the Bank’

But what Dr King didn’t mention was how the cost of screening figures into the picture.

In an interview with the New York Times,[9] Dr King reiterated her recommendation and noted, “You only need to be tested once, and the vast majority of women will not have a mutation and can go about their life. The actual cost is minimal.”

However, it seems as though the price tag attached to universal testing would be anything but minimal. “That cost could run in the billions of dollars in the United States,” said David H. Finley, MD, national medical officer, Enterprise Affordability and Policy at Cigna, “if all women follow her advice and get tested.”

Based on the number of women who fall into the age bracket loosely defined by Dr King, as well as the current average cost of testing, the total cost could reach upwards of $170 billion. “And that is only the cost for the test itself,” Dr Finley said. “It doesn’t include follow-up costs, such as genetic counselling or actions that may be taken based on the test results.”

The breakdown of cost depends on the number of women who would actually step up to the plate and opt for screening, along with the price of the test. This is all hypothetical, Dr Finley stressed, because no formal evaluation has been conducted, and it is difficult to say how many women would even be interested in getting screened.

But using ballpark figures, there are anywhere from 80 to 100 million women who might fit into the age demographic for testing, depending on the designated lower or upper age bracket. If all of those women were screened, with the cost averaging $2000 for each test, the total would be somewhere around $170 to $200 billion, Dr Finley calculated.

Other costs would need to be calculated in as well, depending on what testing revealed. In some cases, Dr Finley explained, follow-up interventions would be cost-effective because they would dramatically reduce a woman’s risk for cancer and the subsequent expense of treatment. But for others, the results might prompt them to undergo unnecessary medical procedures.

Basically, for most women, testing would not be helpful and could be quite harmful as well, he added. “Payment for the tests would also be out of pocket if women didn’t meet the criteria for testing that is in place right now.”

Dr Finley pointed out that Cigna, in line with other insurance providers, will cover testing for BRCA1 andBRCA2 gene mutations that occur among women with known risk factors, using criteria outlined by the National Comprehensive Cancer Network (NCCN).[8] Guidelines from other associations vary slightly,[10,11] but there aren’t any professional groups calling for universal testing, or anything close to it.

The US Preventive Services Task Force also reaffirmed its 2005 guidelines last year, and recommends against routine genetic counselling or BRCA testing in a low-risk population.[12]

Universal testing would “break the bank,” said Joy Larsen Haidle, MS, CGC, president-elect of the National Society of Genetic Counselors, and a genetic counselor who specializes in hereditary cancers.

“Not all patients who test positive for a mutation will choose to do the same thing,” she said. “But broad-based screening makes it more difficult to help patients choose the best strategy. For a woman without any family history, and who doesn’t have the established risk factors, do we follow the same plan?”

More Expensive Sequencing Would Be Needed

Dr King and colleagues supported their call for universal testing with results of a study that was conducted among an Ashkenazi Jewish population in Israel.[2] Within this cohort, 11% of breast cancers and 40% of ovarian cancers are due to three inherited founder mutations in the cancer predisposition genes BRCA1 and BRCA2.

But that population is quite different from that in the United States, explained Kristen Mahoney Shannon, MS, CGC, director, Cancer Center Genetics Program at Massachusetts General Hospital in Boston, and a member of the panel that developed the “Genetic/Familial High-Risk Assessment: Breast and Ovarian” guidelines from the NCCN.

“There are three mutations in two genes: two specific ones in the BRCA1 gene and one in the BRCA2 gene, that are common in that population,” she said. “Those are the founder mutations, but there are no real founder mutations in the general population of the United States because of the complicated genetic mix.”

Thus, in order to do widespread screening in the United States, it would be necessary to look at the two genes in their entirety,” Shannon said. “You just couldn’t look for founder mutations.”

A woman living in the United States would need to undergo full sequencing, and that comes with a higher price tag. “It would be much more expensive, running about $4000 a test,” she said. “Just testing for founder genes would be far less expensive.”

For Ashkenazi Jews living in the United States, they might be able to test for founder genes, but it would depend on the possible genetic mixing in their family, she noted.

The Trouble With Variants

One of the other main issues of universal testing is figuring out what to do about results that are less defined. In some populations, a wide spectrum of different mutations in both genes is present. Currently, about 4% of women will end up with an ambiguous “variant of unknown significance” (VUS), and for right now, it is unclear what these variants may mean. In a population with a low prevalence, and outside the setting of a significant family history, they can be even more difficult to interpret, explained Haidle.

“We may end up overtreating women, because the management guidelines that exist now were developed in the setting of women who had family histories,” she said.

A VUS result will also create more downstream costs, as some women will undoubtedly select more aggressive follow-up. “If those patients opt for surgery, such as a prophylactic mastectomy, the cost would be about $50,000 per patient,” said Dr Finley. “If half of the VUS population, or 1.7 million patients, undergo such a procedure, the cost would be about $85 billion.”

Some VUS patients will choose to have an annual MRI instead of surgery, and if the same number were screened at a cost of $1000 per MRI each year for 30 years, that would total about $51 billion, he added.

If testing is opened up to the general population, the 4% incidence of VUS will also be higher, which in turn could lead to them being misinterpreted, and with the potential to cause real anxiety and harm.

But the question of universal testing does lend itself to a broader argument—why stop at BRCA? “Why not just do a whole slew of cancer predisposition tests,” Shannon pointed out, “when we have effective treatments?”

Lynch syndrome, for example, has roughly the same prevalence as BRCA mutations in a general US population and accounts for about 2%-3% of all colon cancer cases and 2% of endometrial cancers. “We have very effective screening and prevention tools for Lynch syndrome,” said Shannon, “So if we test for BRCA, then theoretically we should be testing everyone for this one as well.”

And universal testing for all of these hereditary cancers would be extremely costly, Shannon added.

‘Angelina Jolie Effect’: BRCA Testing Doubles


Twice as many women were tested for BRCA1/2 mutations in a North American clinic in the 6 months after the revelation by actress Angelina Jolie that she had undergone a prophylactic mastectomy after finding out that she was a carrier.

Importantly, the increase in genetic testing was appropriate, as the proportion of women found to be carriers remained constant, the researchers note.

The finding illustrates “the profound impact that prominent figures like Jolie can have on public awareness of health issues,” commented lead author Jacques Raphael, MD, clinical fellow at Sunnybrook Odette Cancer Center in Toronto.

He was speaking at a presscast held by the American Society of Clinical Oncology ahead of the 2014 Breast Cancer Symposium in San Francisco, where the study will be presented.

Increase in Testing, But Still Appropriate

BRCA1/2 mutations dramatically increase the risk for breast and ovarian cancer. The mutations are rare, found in about 2% to 4% of women, but are more likely to be found in those with a family history of breast and ovarian cancer and those with personal risk factors, such as Ashkenazi Jewish descent.

Jolie’s announcement, in an article entitled My Medical Choice published on May 14, 2013 in the New York Times, was extensively reported across all media, and at the time, several breast cancer experts predicted that the huge publicity would lead to an upsurge in genetic testing for BRCA1/2 mutations.

“People in the community who see high-risk breast cancer have been very aware of what has been dubbed the ‘Angelina Jolie effect,’ this phenomenon of more women and their families seeking out genetic testing,” commented Harold Burstein, MD, from the Dana-Farber Cancer Institute in Boston, who moderated the presscast.

What is interesting about this study, he said, is not just that the authors were able to document the increase in genetic testing, but they also show that it is “the right people that should be seeking out genetic testing.”

It’s a real triumph for what a public disclosure of a health problem can accomplish.

“The key point is that the same percentage of patients actually had the genetic mutation, and the same proportion met the criteria for testing” in the periods before and after the news, he said. “These were not inappropriate people who had somehow been frightened or alarmed by the messages that came forward; rather, because of their clinicians’ or their own awareness, these were perfectly appropriate individuals who should be getting genetic counseling who were seeking that genetic counseling…. It’s a real triumph for what a public disclosure of a health problem can accomplish for patients and society.”

In their study, Dr. Raphael and colleagues documented the upsurge in genetic testing seen in their Toronto clinic. Referrals to the clinic rose from 418 in the 6 months before to 916 in the 6 months after the announcement (referrals increased by 90%).

Of these referrals, 213 individuals (44%) qualified for genetic testing before, compared with 437 (48%) after (genetic testing increased by 105%).

This genetic testing found 29 carriers of BRCA1/2 mutations (6%) among the patients who were referred before, compared with 61 carriers (7%) among those who were referred after the announcement (the number of carriers found increased by 110%).

The fact that the proportion of carriers among those tested remained constant showed that the genetic testing was appropriate, both Dr. Raphael and Dr. Burstein emphasized.

When comparing the women who were tested before and after the announcement, Dr. Raphael noted that there was little difference in the median age (50 and 51 years old, respectively) or in the proportion of women who had already had breast cancer prior to testing (26% before, 30% after the announcement). Also, there were similar proportions of individuals who had a history of breast and ovarian cancer in the family, a history of male breast cancer in the family, or who had breast cancer diagnosed at or before age 35.

There was a slight increase in the number of men who came for testing (10% of those tested before vs 13% of those tested after the announcement).

The figures show clearly that there was an increase in referrals after the announcement, Dr. Raphael said, “but what is interesting is that the quality of referrals remained the same, meaning that appropriate and high-risk referrals were being made to the clinic.”

These referrals were well justified, and were not just the result of increased media publicity about the testing. They all met the criterion for testing that has been laid down by the Ontario Ministry for Health, he said.

Dr. Raphael noted that the study is now continuing to see if the increased demand for genetic testing forBRCA1/2 mutations is continuing or if the effect is tailing off after the initial 6 months. If it continues, there will be a challenge to meet the increased demand, both in terms of time and costs, for screening, counseling, testing, and preventive surgery, he said.

“After Angelina Jolie’s story, the current model of genetic counseling may need to be revised,” the authors suggest.

In Canada, referral costs around $300 and the genetic testing around $1000, Dr. Raphael noted. For the clinic, referral costs went from $146,000 to $275,000 and the genetic testing costs went from $213,000 to $437,000 during the 6-month periods before and after the announcement, he said.

“What is fascinating about the Angelina Jolie effect is how powerfully it prompted women to seek genetic counseling for breast cancer, particularly those women who were most in need of it,” commented Dr. Burstein.

“In this instance, Jolie’s choice to share her story really made clinician and patients aware of the importance of genetic testing in a way that they were not before, and helped drive patients into action,” Dr. Burstein said in a statement.

 

Angelina’s mastectomy… and other medical stories of 2013


With a baby cured of HIV and breakthroughs in dementia, it’s been a year where two of the great scourges of our time have been put on the back foot.

Meanwhile a vision of the future of medicine has emerged, with scientists growing miniature organs -including brains – and performing the first steps of human cloning.

BBC health and science reporter James Gallagher reviews the year in medical science.

HIV baby cure

HIV virus

One of the most remarkable stories of the year was a baby girl in the US seemingly being “cured” of HIV.

Her mother had an uncontrolled HIV infection and doctors suspected the baby would be infected too, so they decided to give antiretroviral drugs at birth.

Normally the drugs hold the virus in check, but the very early treatment seems to have prevented HIV taking hold.

The baby is now three, has been off drugs for more than a year and has no sign of infection.

However, as this analysis explains, a cure for HIV is still a distant prospect. Yet there have been other developments – two patients have been taken off their HIV drugs after bone-marrow transplants seemed to clear the virus.

HIV was once thought to be impossible to cure; now there is real optimism in the field.

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Post-menopausal pregnancy

Dr Kazuhiro Kawamura
Dr Kazuhiro Kawamura of the St Marianna University medical school holding the newborn

Going through an early-menopause used to be seen as the end of a woman’s reproductive life.

But this year a baby was born after doctors, in the US and Japan, developed a technique to “reawaken” the ovaries of women who had a very early menopause.

They removed a woman’s ovaries, activated them in the laboratory and re-implanted fragments of ovarian tissue.

Any eggs produced were then taken and used during normal IVF.

Fertility experts described the findings as a “potential game-changer”.

However, things will not change for women going through the menopause at a normal age as poor egg quality will still be a major obstacle.

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Angelina and Andy

Angelina Jolie and Andrew Marr

The cult of celebrity catapulted two diseases into the public eye this year – breast cancer and strokes.

Hollywood actress Angelina Jolie had a double mastectomy after her doctors said she had an 87% chance of developing breast cancer during her lifetime.

She has a mutation in her DNA, called BRCA1, which greatly increases the odds of both breast and ovarian cancer.

In a newspaper article she said: “I feel empowered that I made a strong choice that in no way diminishes my femininity…for any woman reading this, I hope it helps you to know you have options.”

BBC presenter Andrew Marr had a stroke after an intensive rowing machine session and a year of “heavily overworking”.

It put a spotlight on the standard of care for stroke patients and raised the question why do healthy people have strokes?

He says he’s “lucky to be alive” and is back presenting, although the stroke has affected “the whole left hand side of my body”.

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Lab-grown mini organs

Cross-section of miniature human brains termed cerebral organoids

This purple and green image is of a very special human brain which was grown from skin cells entirely in a laboratory.

The pea-sized “cerebral organoid” is similar to the brain of a nine-week-old foetus.

It has distinct brain regions such as the cerebral cortex, the retina, and an early hippocampus, which would be heavily involved in memory in a fully developed adult brain.

Scientists hope the organoids, which are not capable of thought, will transform the understanding of the development of the brain and neurological disorders.

And it’s not just brains. Japanese researchers said they were “gobsmacked” at making tiny functioning livers in the same way.

They think transplanting thousands of these liver buds could help to reverse liver failure.

On a larger scale, researchers have made full-sized kidneys for rats which were able to make urine.

Their vision is to take a donor kidney and strip it of all its old cells to leave a honeycomb-like scaffold, which would then be used to build a new kidney out of a patient’s own cells.

Expect more from the “grow-your-own organs” field in the coming years.

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Dementia on the back foot

Brain
Loss of tissue in a demented brain compared with a healthy one

Understanding the billions of neurons which make up the human brain, one of the most complex structures in the universe, is one of the greatest challenges in medical science.

This year marked a major breakthrough in defeating neurodegenerative diseases such as Alzheimer’s.

A team of UK Medical Research Council scientists used a chemical to stop the death of brain cells, in a living brain, that would have otherwise died due to a neurodegenerative disease.

This is a first and a significant discovery. One prominent scientist said this moment would “be judged by history as a turning point in the search for medicines to control and prevent Alzheimer’s disease”.

Dementia has also become a major global priority in 2013 amid fears it is rapidly becoming the health and social care problem of a generation.

The G8 group of nations have pledge to fund research aimed at curing the disease by 2025.

It is just one aspect of a flood of money entering brain research.

President Obama has dedicated millions of dollars for mapping the connections in the brain and in Europe the billion pound Human Brain Project to simulate the organ using computers is now under way.

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Human cloning

Row of babies

Human cloning was used to produce early embryos which a group of US scientists described as a “significant step” for medicine.

It has been a long struggle to reach this stage, the same technique was used to produce Dolly the sheep way back in 1996.

No-one is considering attempting to let a cloned embryo develop.

Instead the cloned embryos were used as a source of stem cells, which can make new heart muscle, bone, brain tissue or any other type of cell in the body.

However, it is an ethically charged field of research and there have been calls for a ban.

Meanwhile, the first trial of stem cells produced from a patient’s own body has been approved by the Japanese government.

Scientists will use the cells to attempt to treat a form of blindness – age-related macular degeneration.

And a new era of regenerative medicine could be opened up by transforming tissue inside a living animal back to an embryonic state.

It’s an inherently dangerous thing to do; the tissues became cancerous in the experiments, but if it was controlled then it could be used to heal the body.

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A new role for sleep and body clock resets

Brain in a head

Scientists have found a new explanation for why we sleep – for a spot of housework.

As well as being involved in fixing memories and learning, it seems the brain uses sleep to wash away the waste toxins built up during a hard day’s thinking.

They think failing to clear some toxic proteins may play a role in brain disorders such as Alzheimer’s diseases.

Meanwhile, a separate group of researchers think it may be possible to slow the decline in memory and learning as we age by tackling poor sleep.

And there is no doubt about the impact a poor night’s sleep has on the whole body. The activity of hundreds of genes was altered when people’s sleep was cut to less than six hours a day for a week.

Of course you could blame the moon after a “lunar influence” on sleeping patterns was discovered. It showed that the extra light from a full moon makes it harder to sleep.

There may be good news on the horizon for shift workers and jet setters who will be intimately familiar with the pains of having a body clock out of sync with the world around them.

A team at Kyoto University has found the body clock’s “reset button” inside the brain.

They tested a drug which let the body clock rapidly adjust to new timezones, instead of taking days. It brings the prospect of drugs to avoid jet lag much closer.

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Deadly infections new and old

Coronavirus

Two new viruses have attracted global attention and concern this year.

A new bird flu, H7N9, emerged in China infecting more than 130 people and causing 45 deaths.

However, most were confined to the beginning of the year when the virus first emerged. Closing live poultry markets in affected areas has largely cut the spread of the virus.

And Saudi Arabia is at the centre of an outbreak of Middle East respiratory syndrome coronavirus. The animal source of the virus has not yet been confirmed, although camels are a likely culprit.

Meanwhile, polio has returned to war-torn Syria for the first time in 14 years.

And in the UK, an outbreak of measles infected 1,200 people – as a result of a drop in vaccination during the completely unfounded MMR-autism scare a decade earlier. The World Health Organization warned Europe risked failing to meet its pledge to eliminate measles by 2015.

Odds, ends and an impotent James Bond

The mobile app in action: Scanning the back of the eye

There were many interesting one-off stories this year too – some serious, some not…

A modified smartphone is being tested in Kenya to see if it can prevent blindness in some of the poorest parts of the world.

Doctors warned that antibiotics were running out and could lead to an “antibiotic apocalypse”.

Scientists claimed a milestone moment for cancer after finding 21 major mutations behind that accounted for 97% of the most common cancers.

There was a shift in understanding psychiatric disorders when it was shown autism, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder and schizophrenia all shared several genetic risk factors.

A surgical knife which can sniff out tumours was developed to improve cancer surgery.

The iKnife

New teeth have been grown out of the most unlikely of sources, human urine.

A treatment to banish bald spots is a step closer after human hair was grown in the laboratory, however, there are still engineering challenges to get the hairs the same shape, size and as long as before.

Another thing to blame your parents and grandparents for…behaviour can be affected by events in previous generations which have been passed on through a form of genetic memory.

A wheelchair was controlled with a pierced tongue.

The UK’s first hand transplant took place in Leeds while in China a severed hand was kept alive on an ankle.

Brain scans showed babies could decipher speech as early as three months before birth.

Lullabies may help sick children by reducing pain and improving their wellbeing.

And finally… James Bond’s sexual prowess was seriously questioned with doctors describing him as an “impotent drunk”.

James Bond
Doctors say James Bond, played here by actor Daniel Craig, has a drink problem

Why are more women having mastectomies?


 

In May, Angelina Jolie announced that she was having a double mastectomy even though she was healthy. Since then, according to one British clinic, the number of women requesting a similar operation has risen fourfold. Are women too readily taking on the risk of breast removal?

When Angelina Jolie announced earlier this year that she had undergone a double mastectomy to avoid the risk of breast cancer, she was not alone. The pop singer Michelle Heaton had a similar operation last year – the details of which she shared with viewers of the Lorraine show. And Sharon Osbourne has done it recently, too. When she found out she had a genetic mutation which increased her risk of cancer, she said: “I decided to just take everything off. I didn’t want to live under that cloud.”

It’s a trend, if that’s the right word, that has been rumbling for a while, but it was Jolie’s disclosure which sent shockwaves through the world of cancer care. After her announcement in May, doctors reported that the number of women requesting mastectomies rose steeply.

“The number of women requesting breast-removal surgery rose fourfold [after Jolie’s statement] and the number requesting genetic tests to detect susceptibility was up 67 per cent,” says Professor Kefah Mokbel, of the London Breast Institute at Princess Grace Hospital. “It concerns me that some women will be over-treated.”

Currently about 18,000 mastectomies are performed on the NHS each year in England. That figure has risen by more than 50 percent in the past 10 years. While there is no official figure to show how many of these are preventative operations given to women without cancer, as was the case with Jolie, it is also thought to show a marked increase. Mokbel believes there are two reasons for this: “Fear and desperation.”

“The word cancer strikes such a level of fear that people want to do everything possible to stop it recurring – even if that means more invasive, unnecessary surgery,” he says. “And people such as Angelina Jolie have made it more acceptable. There used to be a stigma associated with the word mastectomy, but not any more.”

In some ways it’s astonishing that this is where we are with cancer treatment in the 21st century. How has something as crude as chopping off body parts become relatively normalised? Just because the medical profession can now carry out good breast implants, is this what we should be offering in terms of “treatment” – bearing in mind that a reconstructed breast has no sensation and is often without nipples? And have we become so risk-averse that removing our breasts is preferable to living with the possibility that one day we might develop cancer?

Mokbel is right about the fear factor. The majority of women interviewed for this piece speak of nothing but the enormous relief the moment they came round from the anaesthetic. “The fear lifted instantly,” says Helen Brown, who had a double mastectomy last year. “Just knowing I didn’t have to face the dread of annual check-ups was hugely liberating.”

Brown, who has breast cancer running in her family, remembers how mastectomies were done in the past. Her aunt, whose five older sisters all contracted breast cancer, had one 30 years ago. “In those days, it was all hushed tones, the big c-word, no one ever even mentioning your breasts,” she says. “There was no reconstruction. Women were savaged by surgeons who didn’t give a monkeys about their long-term care or looks. Stick a couple of pairs of socks in your bra and you’ll be fine, they said. My aunt went from being quite a big lady to having literally no boobs at all. It was quite mutilating.”

Nurse Helen Brown, 40,found a lump when I was 37: 'It was very weird; I had a dream that I'd found one and woke up and checked myself and there it was' (Anna Huix)

Nurse Helen Brown, 40,found a lump when I was 37: ‘It was very weird; I had a dream that I’d found one and woke up and checked myself and there it was’ (Anna Huix)
Dr Andrew Baildam, professor of breast surgery at Barts in London, was one of the first to carry out preventative mastectomies and reconstructions in the UK. “[Ten years ago] it was almost regarded as unethical,” he says. “These are women who don’t even have cancer. A lot of surgeons wouldn’t do it. But as techniques have become more refined, it has become much more routine.”

Baildam estimates that he carries out about 10 operations a year on women without cancer. The most frequent method is the one Jolie opted for, in which the breast tissue is removed and expanders are placed under the pectoral muscles. These little pockets are gradually filled with saline over a few weeks and once enough space is created, the liquid is drained off and implants are inserted. The other method is to take tissue from the stomach or back and use it in a reconstruction. The advantage of this is that, unlike implants, they don’t have to be replaced every 10 to 15 years – but it does leave nasty scars.

“There are technical challenges associated with the surgery,” says Dr Baildam. “These are women who haven’t had cancer and want to look as close as they can to how they did before.”

Which is why the increasing numbers of celebrities apparently cruising so easily through is problematic. Actress Kathy Bates took to Twitter to announce news of her double mastectomy. “I don’t miss my breasts as much as I miss Harry’s Law,” she tweeted cheerfully of the TV series she’d been starring in. The singer Beverley Craven, meanwhile, breezily told the Evening Standard of her three daughters, who have a 50 per cent risk, that, “Once they’ve had babies and breastfed them, they will undergo double mastectomies” – as if their boobs are disposable parts designed to be shed once used.

“We need to be vigilant,” says Mokbel. “We want to be sure women avoid over-estimating the benefits of having this procedure. Sometimes women develop nasty infections or have problems with the implants and end up with disfigurement of the breast. Also, because a reconstructed breast usually has no sensation, it can seriously affect psychosexual function.”

A new study published in the American medical journal Annals of Internal Medicine in September confirms Mokbel’s concerns. The research, carried out by Shoshana Rosenberg at the Dana-Farber Cancer Institute in Boston, discovered that increasing numbers of women with early-stage breast cancer are opting to remove not just the affected breast but the healthy one too. “It’s particularly concerning in young women. They have the highest rates and we are trying to work out why,” says Rosenberg. “Our study suggests the peace-of-mind factor is huge. Even though maybe they have only a very small chance of developing breast cancer in the healthy breast, for some women, any risk is too much.”

Bridgid Nzekwu opted for a double mastectomy after she was diagnosed with breast cancer at the age of 42 and told she had a 25 per cent chance of developing cancer in the other breast. She insisted on having both breasts removed and went through a nine-hour operation in which excess fat was taken from her abdomen to build new ones. It took two weeks before she could stand up because of the tummy tuck, she now needs a further operation to repair some bulgy scar tissue, and currently she has no nipples – yet still, she says, she would tell any woman to do the same.

“I didn’t feel comfortable living with unnecessary risk, and to me 25 per cent was unacceptable,” she says. “Why would you hang around and wait for the cancer to come when you can just get rid of it? Once it was done I felt exhilarated. Now my risk is around 2 per cent.”

While Nzekwu is very happy with her reconstruction, some of the women in Rosenberg’s study were less so. Asking them how they felt after surgery, nearly a third said their confidence about their appearance was worse than they thought it would be, while 42 per cent said their sense of sexuality was worse than expected.

Broadcaster Bridgid Nzekwu, 43, says: 'One of the advantages of having a double mastectomy is that you get a much better result cosmetically' (Anna Huix)

Broadcaster Bridgid Nzekwu, 43, says: ‘One of the advantages of having a double mastectomy is that you get a much better result cosmetically’ (Anna Huix)
“My fear after the Angelina Jolie experience is that a lot of women will step forward and say me too,” says Dr Baildam. “For women of high risk, it is highly effective; we just need to be sure surgery is offered only in the right context.”

Rosenberg agrees. “We are concerned about women who are not high risk who are deciding to do this,” she says. “We need to address the underlying anxiety so these women don’t do anything they regret.”

Plus, concludes Mokbel, there is a lot that can be done to reduce risk before turning to the knife. Exercise routines and changes to diet can reduce the risk from 25 per cent to below 10 per cent. “I don’t think we as doctors can refuse to do it; we just need to ensure women know it’s a massive decision and don’t take it lightly.”

Helen Brown

40, nurse

“I found a lump when I was 37. It was very weird; I had a dream that I’d found one and woke up and checked myself and there it was, exactly where it was in the dream.

“I’ve got a family history of breast cancer, but even so, I still thought they would tell me it was a cyst or an old milk duct. But they said, ‘It’s come to you. You’re going to need a mastectomy next week.’ It was so fast. I felt like I’d jumped on a conveyor belt that I couldn’t get off.

“My brain shut down. I totally lost control. A lot of cancer patients will say this – that the first day of diagnosis is the worst, the moment you hear your death knell. But then four days later the doctor came back and said it was benign. I couldn’t believe it. I had told everyone I knew; I’d called my sister in Australia and made plans for my three children during the treatment.

“That was a turning point for me. I thought, ‘There is no way I’m going to go back to check-ups to go through that again.’ So I booked myself in for a double mastectomy and reconstruction.

“The fear lifted instantly. I remember waking up from the anaesthetic and thinking all that dread, it’s all gone. I went from 85 per cent risk to 5 per cent. It was liberating. And as it turns out, there were some pre-cancerous cells there, so I feel completely justified. Now I have enviable boobs and I kept my nipples.”

Heather Johnson

44, Pilates instructor

“My aunt was diagnosed with breast cancer at 38 and was dead by 43. It hit me hard. My mum was 58 when she was diagnosed. It came back twice; eventually she had a double mastectomy and we thought that was it. Seven years later they found a lump on her reconstructed breast, which is incredibly rare. The breast was removed but when she went for her six-month check they found it had spread to her liver and bones. She died two years ago.

“It was due to my mum’s encouragement that I got a double mastectomy. As soon as I stopped breastfeeding my last child at the age of 32 I went and had a mammogram. I had some benign cysts but the doctor said to me, ‘It’s a matter of when, not if, these lumps become cancerous.’

” I sat down with my husband and said, ‘I don’t want to live with this fear.’ Deciding on a double mastectomy wasn’t difficult after what I’d witnessed with my mum and aunt.

“After the surgery I found it hard to breathe for a while and I certainly found it difficult to look at myself. I was without nipples for two years. You lose something so feminine about yourself.

“I hate it when people tell me how brave I’ve been. I took the easy way out. The women who fight cancer are the brave ones. I’m still amazed that women are so afraid to give up their breasts if cancer is the sure-fire alternative. I would do it again in a heartbeat.”

Bridgid Nzekwu

43, broadcaster

“As a teenager I had Hodgkin’s lymphoma; the treatment was two lots of chemotherapy and a month of daily radiotherapy. In 2007, it was discovered that people who had been through this treatment have a higher-than-normal risk of developing breast cancer. They called me in for annual breast screenings.

“In 2012, they realised a lump I had in my breast had become cancerous. Because I’d had such massive doses of radiotherapy in my teens, the hospital couldn’t give me any more. The only option was to remove my breast.

“I said I wanted both breasts off now. I was 42 at the time and had a three-year-old; I wanted to eliminate my risk. They said it was completely healthy and there was no reason to remove it. So I transferred to another hospital and had both breasts removed and immediate reconstruction.

“One of the advantages of having a double mastectomy is that you get a much better result cosmetically. They look better if they are done at the same time and they are more likely to match. Also, because I’d been through cancer in my teens, I knew I just couldn’t go through it again.

“Now, although I’m taking Tamoxifen [a hormonal therapy used to treat breast cancer], I’m in early-stage menopause; I’m having hot flushes and I’m trying to stave off the weight gain that goes with it. All of that is preferable to not being alive.”

Breast cancer in numbers

1 in 8 women will be diagnosed with breast cancer in their lifetime

136 women a day were diagnosed with breast cancer in 2010

80% of women live for at least five years with breast cancer (it was 50 per cent in the 1970s)

18,000 mastectomies are performed by the NHS each year (up 50 per cent over the past decade)

Angelina Jolie’s aunt dies of breast cancer.


angie

Angelina Jolie‘s aunt has died of breast cancer, nearly two weeks after the Hollywood star said she had had a double mastectomy to avoid such a fate.

Debbie Martin passed away at the Palomar Medical Centre in Escondido on Sunday, aged 61, the hospital said.

Mrs Martin was the sister of Jolie’s mother Marcheline Bertrand, who died of ovarian cancer in 2007, aged 56.

Her husband, Ron Martin, said the sisters had both had the same mutated BRCA1 gene, which Jolie inherited.

“Angelina has been in touch throughout the week and her brother Jamie has been with us, giving his support day by day,” he told E! News.

“They both loved Debbie very much and although Angie is not able to come right now, she has sent her love and support, which was very nice.”

Mr Martin also praised the actress for electing to have a double mastectomy, telling the Associated Press: “Had we known, we certainly would have done exactly what Angelina did.”

On 14 May, the 37-year-old wrote in the New York Times that she had had the operation after doctors estimated she had an 87% risk of breast cancer and a 50% risk of ovarian cancer.

“I decided to be proactive and to minimise the risk as much I could,” she explained, adding that her chances of developing breast cancer had now dropped to less than 5%.

The BRCA1 gene is present in everyone but only mutates in one in 1,000 people. Anyone with the mutation has a 50-80% chance of developing breast cancer.

Source: BBC

Girls Rising: From Anne Frank to Malala Yousafzai.


MALALA-YOUSAFZAI1-e1350660299754

“Stories can conquer fear,” Nigerian novelist Ben Okri once said. “They can make the heart bigger.”

There’s a world of truth to that statement. As someone who comes from a long line of storytellers, I’ve always felt that our lives are just long and rich stories, knit together over the years, that tell us not only about ourselves, but the human condition, as well.

Which is why, I believe, the Women in the World Summit, which opened on Thursday night in New York City, is such an important gathering — because it is dedicated to championing women and girls around the world, and not just through their compelling stories, but through the actions that those stories inspire.

This year, the summit was attended by no shortage of admirable women — from Hillary Rodham Clinton and Ambassador Susan Rice, to Meryl Streep and Somali human rights activist Dr. Hawa Abdi. But my eye was especially trained on the big opening night event, in which actress and activist Angelina Jolie honored 15-year-old Pakistani schoolgirl Malala Yousafzai, who has come to symbolize both the plight of young women around the world, and the courage to fight for justice.

Yousafzai was only 11 years old when, under a pseudonym on a BBC blog, she began to write about the life under the brutal Taliban regime in Pakistan’s Swat Valley, particularly the violently enforced edict banning girls from obtaining an education. Yousafzai’s undercover reporting was hard-hitting and painful; and once her identity became known, her bravery was no less boundless.

“I don’t mind if I have to sit on the floor at school,” she told a TV audience. “All I want is education. And I am afraid of no one.”

Yet as her popularity grew, so, too, did her vulnerability — and last October, Taliban gunmen shot her in the head while she was riding on a school bus. She survived the assault and was sent to the United Kingdom for hospitalization, where she continues her rehabilitation today. But the world has taken up her cause. She has been nominated for the Nobel Peace Prize, and the U.N. has launched a petition in her name, calling on organizations worldwide to ensure education for all of the world’s children by 2015.

Most important, Yousafzai’s bold fight lives on in the hearts of her peers.

“Every girl in Swat is Malala,” a classmate commented through Twitter two days after the assassination attempt. “We will educate ourselves. We will win. They can’t defeat us.”

History has been replete with girls and young women whose stories, often of sacrifice, have driven others to reach for greater ideals. Anne Frank still stands as a shining testament to the unbreakable will — and unchecked optimism — of the human spirit. And Helen Keller came to exemplify the determination that is required to face down disability.

In my own life, I’ve personally witnessed how the seeds of goodness planted in children have blossomed into something beautiful and powerful. In 1972, I watched kids embrace, almost by instinct, the deeper lessons of Free to Be…You and Me, which taught them about their bottomless potential and the injustice of racial and gender discrimination. And today, I continue to be awed by the girls and boys of St. Jude Children’s Hospital, who remain the definition of inner-courage. These children truly inspire me.

Although most Americans weren’t in attendance at the Women in the World Summit, fortunately, we will all be given the opportunity to share in a similarly rousing event. This week, a 100-minute documentary entitled Girl Rising will debut in more than 500 screenings across the country — and it is an astonishing achievement. Executive produced by Holly Gordon, the film tells the stories of nine heroic girls from around the globe who, like Pakistan’s Malala Yousafzai, overcame nearly insurmountable adversity to claim their right to an education.

Like Sokha, an orphaned Cambodian who rose from the filth of a garbage dump to become a prize pupil in a top school, where she also teaches younger students. Or Wadley from Haiti, who was just 7 when the 2010 earthquake devastated her home and school, but didn’t keep her from seizing an education that has made her a promising science student and budding photographer. Or Nepal’s Suma, who, forced into bonded labor at 6, found solace in writing music and learning to read, then forged a battle to win an education for other young girls.

And then there’s Azmera of Ethiopia, who defied the traditional demand that she be married at 13, and instead, remained in school where she continues to excel in English and mathematics. Azmera plans to become a teacher.

Girl after girl, each of these stories jolts us into a deeper awareness of the unconscionable injustices that still exist throughout the world, and the triumph of rising above them. I hope you’ll take a look at our slide show, which previews these young women’s remarkable journeys. And then I hope you’ll see the movie.

Meanwhile, to all the girls and women of the Women in the World Summit, we salute you. And to Malala Yousafzai, God’s speed for a safe and complete recovery. The world treasures your voice.

 

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ist:Is�e>(� �� style=’font:7.0pt “Times New Roman”‘>         Many indicators have been independently associated with prognosis after traumatic brain injury, but they are of limited clinical use when considered separately and current prognostic models do not have sufficient discriminative capacity to inform clinical decision making

 

  • S-100β protein concentrations have been shown to increase in blood and cerebrospinal fluid after a wide range of diseases or conditions leading to brain damage
  • S-100β protein serum concentrations correlate significantly with unfavourable prognosis in patients with moderate or severe traumatic brain injury, as defined by mortality, Glasgow outcome score ≤3, or brain stem death, with or without concomitant traumatic injuries
  • The association between serum concentrations of S-100β protein and prognosis was observed at discharge from intensive care and at one, three, and six months.
  • Serum threshold values ranging from 1.38 µg/L to 10.50 µg/L and from 2.16 µg/L to 14.00 µg/L were associated with 100% specificity for mortality and a Glasgow outcome score ≤3, respectively.
    • Source: BMJ

What this study adds