Tiny variations in a key gene on Chromosome 15 may help explain a common form of epilepsy, according to a paper published online on Sunday by the journal Nature Genetics.
As many as a third of all epileptic fits are called “idiopathic generalised epilepsy,” or IGE, meaning that the genetic causes for them are unknown but likely to be highly complex.
Previous research has narrowed investigations into IGEs to a region on Chromosome 15.
Taking this further, a large consortium of scientists sifted through two large genetic databases of people who either had a history of IGE or were otherwise healthy.
CLEVELAND (AP) — A woman so horribly disfigured she was willing to risk her life to do something about it has undergone the nation’s first near-total face transplant, the Cleveland Clinic announced Tuesday. Reconstructive surgeon Dr. Maria Siemionow and a team of other specialists replaced 80 percent of the woman’s face with that of a female cadaver a couple of weeks ago in a bold and controversial operation certain to stoke the debate over the ethics of such surgery.
The patient’s name and age were not released, and the hospital said her family wanted the reason for her transplant to remain confidential. The hospital plans a news conference Wednesday and would not give details until then.
Men with locally advanced prostate cancer — cancer that has spread beyond the wall of the prostate gland — who undergo radiation plus long-term hormone treatment cut their risk of dying in half, a new study has found.
The addition of radiotherapy kept patients healthy much longer, the Swedish research team concluded. In fact, by adding radiotherapy, men’s overall survival was increased by 10 percent with only a modest increase in the risk of radiation-related side effects.
Expression of the microtubule-binding protein Tau is not a reliable means of selecting breast cancer patients for adjuvant paclitaxel chemotherapy, according to research led by The University of Texas M. D. Anderson Cancer Center.
Presented Dec. 13, at the CRTC-AACR San Antonio Breast Cancer Symposium, the researchers found that Tau expression does predict survival, yet in an unexpected way.
Shares in biotechnology company Exelixis Inc. rose nearly 33 percent Friday on news that major pharmaceutical firm Bristol-Myers Squibb will collaborate on the development of two experimental cancer drugs discovered through Exelixis’ automated screening process.
The South San Francisco biotech company will receive an initial payment of $195 million from Bristol-Myers under the partnership terms, followed by $45 million in 2009.
For the sake of heart disease research, 809 members of the Old Order Amish community agreed to go to a clinic in Lancaster, Pa., near their homes, and drink a rich milkshake that was made mostly of heavy cream. Over the next six hours, a group of investigators took samples of their blood, determining how much fat was churning through their bloodstreams.
Most of the study participants responded as expected — their levels of triglycerides, a common form of fat in the blood, rose steadily for three to four hours and then declined. But about 5 percent had an extraordinary reaction: their triglyceride levels started out low and hardly budged.
SAN ANTONIO (AP) — Taking menopause hormones for five years doubles the risk for breast cancer, according to a new analysis of a big federal study that reveals the most dramatic evidence yet of the dangers of these still-popular pills.
Even women who took estrogen and progestin pills for as little as a couple of years had a greater chance of getting cancer. And when they stopped taking them, their odds quickly improved, returning to a normal risk level roughly two years after quitting.
Collectively, these new findings are likely to end any doubt that the risks outweigh the benefits for most women.
It is clear that breast cancer rates plunged in recent years mainly because millions of women quit hormone therapy and fewer newly menopausal women started on it, said the study’s leader, Dr. Rowan Chlebowski of Harbor-UCLA Medical Center in Los Angeles.
“It’s an excellent message for women: You can still diminish risk (by quitting), even if you’ve been on hormones for a long time,” said Dr. Claudine Isaacs of Georgetown University’s Lombardi Comprehensive Cancer Center. “It’s not like smoking where you have to wait 10 or 15 years for the risk to come down.”
Study results were given Saturday at the San Antonio Breast Cancer Symposium.
They are from the Women’s Health Initiative, which tested estrogen and progestin pills that doctors long believed would prevent heart disease, bone loss and many other problems in women after menopause. The main part of the study was stopped in 2002 when researchers saw surprisingly higher risks of heart problems and breast cancer in hormone users.
Since then, experts have debated whether these risks apply to women who start on hormones when they enter menopause, usually in their 50s, and take them for shorter periods of time. Most of the women in the federal study were in their 60s and well past menopause.
So the advice has been to use hormones only if symptoms like hot flashes are severe, and at the lowest dose and shortest time possible. The new study sharpens that message, Chlebowski said.
“It does change the balance” on whether to start on treatment at all, he said.
Even so, most women will not get breast cancer by taking the pills short-term. The increased cancer risk from a couple of years of hormone use translates to a few extra cases of breast cancer a year for every 1,000 women on hormones. This risk accumulates with each year of use, though.
The Women’s Health Initiative study had two parts. In one, 16,608 women closely matched for age, weight and other health factors were randomly assigned to take either Wyeth Pharmaceuticals’ Prempro — estrogen and progestin — or dummy pills.
This part was halted when researchers saw a 26 percent higher risk of breast cancer in those on Prempro.
But that was an average over the 5 1/2 years women were on the pills. For the new study, researchers tracked 15,387 of these women through July 2005, and plotted breast cancer cases as they occurred over time.
They saw a clear trend: Risk rose with the start of use, peaked when the study ended and fell as nearly all hormone users stopped taking their pills. At the peak, the breast cancer risk for pill takers was twice that of the others.
Think of it as President Bush’s public approval rating, said another study leader, Dr. Peter Ravdin of the University of Texas M.D. Anderson Cancer Center in Houston.
“Bush’s popularity may be 50 percent on average, but it might have been descending the whole time he was president,” Ravdin said.
In the second part of the federal study, researchers observed just 16,121 women who had already been on hormones for an average of seven years and another group of 25,328 women who had never used them. No results on breast cancer risk in these women have been given until now.
Plotting cases over time, researchers saw in retrospect that hormone users had started out with twice the risk of breast cancer as the others, and it fell as use declined. Among those taking hormones at the start of the study, use dropped to 41 percent in 2003, the year after the main results made news.
In the general population, use of hormone products has dropped 70 percent since the study, said another of its leaders, Dr. JoAnn Manson, preventive medicine chief at Harvard’s Brigham and Women’s Hospital in Boston.
That corresponds with big drops in breast cancer cases, but some scientists have said this could be due to a fall-off in mammograms, which would mean fewer cancers were being detected, not necessarily that fewer were occurring.
The new study puts that theory to rest. Mammography rates were virtually the same among those taking hormones and those not.
“It is clear that changing mammography patterns cannot explain the dramatic reductions in breast cancer risk,” Manson said.
“The data are getting stronger,” said Dr. C. Kent Osborne, a breast cancer specialist at Baylor College of Medicine in Houston.
Women who do need the pills should not panic, though the doubling of risk — a 100 percent increase — for long-term users is quite worrisome, cancer specialists say. Although the new study does not calculate risks in terms of actual cases, previous research showed that the average increased risk of 26 percent meant a difference of a few extra cases a year for every 1,000 women on hormone pills, compared with nonusers.
“Hormone therapy remains a good health care choice to relieve moderate to severe menopausal symptoms,” says a statement from Wyeth, which made the pills used in the study.
“Most women should be able to discontinue hormones in three to four years,” or at least reduce their dose, Manson said.
A future analysis will look at other women in the study who took only estrogen, generally women who have had hysterectomies.
Researchers continue to test the mettle of breakthrough breast cancer drugs, three decades after tamoxifen changed the medical landscape by drastically reducing the risk of recurrences in women with estrogen receptor-positive tumors.
Encouraging findings on several different drugs were presented Thursday at the CTRC-AACR San Antonio Breast Cancer Symposium in Texas.
An experimental drug that mimics the effects of the hormone melatonin can reset the body’s circadian rhythms, bringing relief to jet-lagged travelers and night-shift workers, researchers reported Monday.
In a study of 450 people who were subjected to simulated jet lag in a sleep laboratory, a team from Brigham and Women’s Hospital in Boston found that the drug restored near normal sleep the first night it was used.
There were no aftereffects from the drug, minimal side effects, and people who took it performed normally the next day, said Dr. Elizabeth B. Klerman, one of the co-authors of the study published online in the journal Lancet.
WASHINGTON (Reuters) – Distinctive genetic changes occur in the cancer cells that trigger relapse in patients with the most common type of childhood cancer, according to a study that may offer new hope for beating the disease.
Writing in the journal Science on Thursday, the scientists described key genetic differences in cancer cells of children with acute lymphoblastic leukemia, or ALL, when they were first diagnosed compared to when they had a relapse.
ALL is a cancer of the blood and bone marrow. Most children with it can be cured, but among those who suffer a relapse only about 30 percent survive.










