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STUDIES TEST HOW EARLY IN LIFE TO PEEK INSIDE DNA

Wednesday, 09 October 2013 11:03 Published in Health & Fitness

WASHINGTON (AP) -- Little Amelia Sloan became a pioneer shortly after her birth.

The healthy baby is part of a large research project outside the nation's capital that is decoding the DNA of hundreds of infants. New parents in a few other cities soon can start signing up for smaller studies to explore what's called genome sequencing - fully mapping someone's genes to look for health risks - should become a part of newborn care.

It's full of ethical challenges.

Should parents be told only about childhood threats? Or would they also want to learn if their babies carried a key gene for, say, breast cancer after they're grown? Could knowing about future risks alter how a family treats an otherwise healthy youngster? And how accurate is this technology - could it raise too many false alarms?

This is the newest frontier in the genetic revolution: how early to peek into someone's DNA, and how to make use of this health forecast without causing needless worry.

"This was something that was looming over the horizon," said Dr. Alan Guttmacher, a pediatrician and geneticist who heads the National Institutes of Health's child health division. Last month, NIH announced a $25 million, five-year pilot project in four cities - Boston, San Francisco, Chapel Hill, N.C., and Kansas City, Mo. - to start answering some of the questions before the technology is widely offered for babies.

Today, the 4 million U.S. babies born annually have a heel pricked in the hospital, providing a spot of blood to be tested for signs of at least 30 rare diseases. This newborn screening catches several thousand affected babies each year in time for early treatment to prevent death, brain damage or other disabilities. It's considered one of the nation's most successful public health programs.

A complete genetic blueprint would go well beyond what that newborn blood spot currently tells doctors and parents - allowing a search for potentially hundreds of other conditions, some that arise in childhood and some later, some preventable and some not.

"If I truly believed that knowing one's genome was going to be transformative to medicine over the next decade or more, then wouldn't I want to start generating that information around the time of birth?" asked Dr. John Niederhuber, former director of the National Cancer Institute who now oversees one of the largest baby-sequencing research projects to date.

At Niederhuber's Inova Translational Medicine Institute in Falls Church, Va., researchers are mapping the genomes of newborns, along with their parents and other relatives for comparison. The long-term goal of the privately funded study is to uncover genetic patterns that predict complex health problems, from prematurity to developmental disorders.

But the experimental tests will turn up some gene mutations already well-known to cause serious ailments, and participating parents must choose upfront whether to be told. They don't get a full report card of their baby's genes. Only ones that cause treatable or preventable conditions - so-called medically actionable findings - are revealed, to the family's doctor. That means in addition to pediatric diseases, parents also could learn whether a baby carries a particular breast-cancer-causing gene, information useful once she reaches young adulthood.

Nurse Holly Sloan was eager to enroll daughter Amelia, although she thought hard about how she'd handle any bad news.

"If it was something that we could hopefully prevent through diet or exercise or some kind of lifestyle change, we could start with that as early as possible," said Sloan, of Warrenton, Va. "I guess I'm just the type of person, I would rather know and address it." Five months after Amelia's birth, she hasn't gotten any worrisome results.

Until now, genome sequencing has been used mostly in research involving curious adults or to help diagnose children or families plagued by mysterious illnesses.

But many specialists say it's almost inevitable that DNA mapping eventually will be used for healthy young children, too, maybe as an addition to traditional newborn screening for at least some tots. It takes a few drops of blood or a cheek swab. And while it's still too costly for routine use, the price is dropping rapidly. Whole genome sequencing is expected to soon come down to $1,000, what it now costs for a more targeted "exome" sequencing that maps only certain genes and may be enough.

The NIH decided this was a window of opportunity to explore different ways this technology might be used. One of the four teams - at Children's Mercy Hospital in Kansas City - will test rapid gene-mapping to speed diagnosis of sick babies in intensive care.

Another will look for narrow sets of genes important in childhood, such as those involved with immune disorders not detected by today's newborn screening or that alter how a child processes medication. "It's not going to be some sort of fishing expedition throughout the genome," said Dr. Robert Nussbaum of the University of California, San Francisco.

The two other projects - at Brigham and Women's Hospital in Boston and the University of North Carolina, Chapel Hill - will go a step further by enrolling healthy infants as they explore what kind of information parents want about their babies' future.

"We aren't even sure that genome-scale sequencing in newborns is really a good idea," cautioned UNC lead researcher Dr. Jonathan Berg in a recent Facebook chat to alert the community about the study. Rather than a one-time mapping, it's possible that "we will use targeted sequencing at certain times in a person's life, when that specific information will actually be medically useful."

For those pioneering babies whose DNA is being mapped already, researchers are "trying to figure out what is legal, versus ethical, versus good medicine" in revealing results, said geneticist Joe Vockley, Inova Translational Medicine Institute's chief science officer.

Mom and Dad may be told something their child, once grown, wishes hadn't been revealed. Other findings may be withheld now that would be good to know years later, as new treatments are developed.

"This is a living, breathing problem," Vockley said, "not a static decision that's made, and it lasts for all time."

© 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.

OBAMA TO BOEHNER: NO TALKS UNTIL GOVERNMENT OPENS

Tuesday, 08 October 2013 13:04 Published in National News

WASHINGTON (AP) — President Barack Obama called the top Republican in the GOP-controlled House Tuesday, telling Speaker John Boehner once again that he won't negotiate over reopening the government or must-pass legislation to prevent a U.S. default on its obligations.

In the second week of the partial government shutdown, Obama's call, revealed by Boehner's office, came as the speaker softened the tone of his rhetoric in remarks to the media. The White House said Obama would hold a news conference Tuesday afternoon.

The White House also confirmed the call and said Obama repeated to Boehner "what he told him when they met at the White House last week: the president is willing to negotiate with Republicans — after the threat of government shutdown and default have been removed — over policies that Republicans think would strengthen the country."

"I want to have a conversation. I'm not drawing lines in the sand. It is time for us to just sit down and resolve our differences," said Boehner, R-Ohio.

He added: "There's no boundaries here. There's nothing on the table, there's nothing off the table."

For his part, Senate Majority Leader Harry Reid said he is willing to negotiate over the budget but only after the government is funded and the debt ceiling lifted.

"All we're asking is that government be reopened. Stop threatening a catastrophic default on the nation's bills," the Nevada Democrat said.

At the same time, Democrats controlling the Senate planned to move quickly toward a vote to allow the government to borrow more money by raising the statutory limit on the federal debt.

A spokesman said Reid could unveil the debt limit measure as early as Tuesday, setting the table for a test vote later in the week. The measure is expected to provide enough borrowing room to last beyond next year's election, which means it likely will permit $1 trillion or more in new borrowing above the current $16.7 trillion debt ceiling that the administration says will be hit on Oct. 17. It's not expected to include new spending cuts sought by Republicans.

GOP aides said that the House vote would set up a new bipartisan panel to negotiate reopening the government and avoiding a default, tied to legislation to make sure federal employees who are required to work during the partial shutdown get paid on time.

Those affected include families of service members killed in action. Survivors are typically sent a $100,000 payment within three days to help with costs such as funeral expenses. Because of the shutdown, the Defense Department doesn't have the authority to make the payments, officials said Monday, even though most of the department's civilian workers have been recalled.

Some 350,000 civilian Defense Department workers were summoned back to work Monday as the result of legislation Congress passed and Obama signed after the shutdown began. Many other agencies, such as NASA and the Environmental Protection Agency, remain mostly shuttered.

Even the White House is feeling the effects, with about 3 out of 4 staffers furloughed.

It's not clear whether Reid's gambit will work in the Senate. Republicans are expected to oppose the measure if it doesn't contain budget cuts to make a dent in deficits. The question is whether Republicans will try to hold up the measure with a filibuster. Such a showdown could unnerve the financial markets.

Until recently, debt limit increases have not been the target of filibusters; the first in memory came four years ago, when Democrats controlled the Senate with a filibuster-proof 60 votes.

Many Republicans in the Senate, including Minority Leader Mitch McConnell of Kentucky and Whip John Cornyn of Texas, have voted for so-called clean debt limit increases during Republican administrations.

Some Republicans seemed wary of participating in a filibuster that could rattle the stock and bond markets.

"We shouldn't be dismissing anything out of hand, whether it's the debt ceiling or what we're going to do with this government shutdown," Sen. Lisa Murkowski, R-Alaska, said. "We've got a situation where you've got a calendar running, you've got people who are frustrated and upset, so let's figure it out."

The impasse over the shutdown — sparked by House Republicans' insistence that a temporary funding bill contain concessions on Obama's health care law — shows no signs of breaking, as each side sticks to its guns and repeats its talking points.

Democrats from Obama on down to the most junior lawmakers said again that the House should vote immediately on ending the partial closure of the government. Obama said that Boehner "doesn't apparently want to see the ... shutdown end at the moment, unless he's able to extract concessions that don't have anything to do with the budget."

Boehner, in rebuttal Monday, called on Obama to agree to negotiations on changes in "Obamacare" and steps to curb deficits, the principal GOP demands for ending the shutdown that began with the Oct. 1 beginning of the new fiscal year, and eliminating the threat of default. "Really, Mr. President. It's time to have that conversation before our economy is put further at risk," Boehner said on the House floor.

The White House has said repeatedly the president will not negotiate with Republicans until the government is fully reopened and the debt limit has been raised. But it hasn't said the debt limit measure has to be completely "clean" of add-ons.

White House aide Jason Furman told reporters the White House could accept some add-ons if Boehner "needs to have some talking point for his caucus that's consistent with us not negotiating ... that's not adding a bunch of extraneous conditions." Another White House official, Gene Sperling, said the administration could be open to an interim, short-term debt limit extension to prevent a catastrophic default.

Republicans were sticking with a strategy of trying to pin the blame for the shutdown on Obama for being unwilling to negotiate. The House also passed legislation Monday to reopen the Food and Drug Administration, the latest in a series of piecemeal funding bills to advance through the GOP-controlled chamber.

It's been commonly assumed that Republicans would suffer politically from the shutdown and the early polling data seems to bear that out.

A survey released Monday by The Washington Post and ABC News said disapproval of Republican handling of the budget showdown was measured at 70 percent, up from 63 percent a week earlier. Disapproval of Obama's role was statistically unchanged at 51 percent.

CARDINALS EDGE PIRATES 2-1 TO SEND NLDS TO GAME 5

Tuesday, 08 October 2013 12:52 Published in Sports

PITTSBURGH (AP) -- Pushed to the brink, the St. Louis Cardinals and rookie Michael Wacha pushed back.

Now it's back to Busch Stadium with a trip to the NL championship series on the line for baseball's most resilient team and the club they've been unable to shake for the better part of six months.

Wacha took a no-hitter into the eighth and the Cardinals avoided elimination with a 2-1 victory over the Pittsburgh Pirates on Monday in Game 4 of the NL division series to set up a winner-take-all Game 5 on Wednesday night.

Adam Wainwright will start for the NL Central champion Cardinals against Pittsburgh rookie Gerrit Cole. Both pitchers won earlier in the series.

"It's going to be fun," Carlos Beltran said. "We're going back home, we have our best pitcher on the mound - our ace - and I really like our chances."

So do the Pirates.

Manager Clint Hurdle opted for Cole rather than veteran A.J. Burnett after the Cardinals shelled Burnett for seven runs in two-plus innings in Game 1.

"We have one game to win," Hurdle said. "I believe that matchup is the best we can do to beat the Cardinals in Game 5."

Something the Pirates failed to do at home in front of a record crowd at PNC Park anxious to celebrate with champagne for the second time in a week. Pittsburgh popped the bubbly after beating Cincinnati in the wild-card game last Tuesday. This time, the bottles remained corked after Wacha pitched like a guy who'd been in the majors for years, not months.

"He was unhittable, actually," Beltran said. "He gave us an opportunity to win. We scored just two runs, but you just had the feeling it was going to be enough."

St. Louis improved to 7-1 over the last three years with its season on the line when Rosenthal got Pittsburgh MVP-candidate Andrew McCutchen to pop out to second with one on in the ninth.

"I think you take high talent and high character people that are motivated and support each other, and they don't give up," Cardinals manager Mike Matheny said. "That's a tough combination."

One the Pirates are still trying to master.

Pedro Alvarez hit his third home run of the series, connecting with one out in the eighth for Pittsburgh's only hit. It wasn't enough for the Pirates to advance to the NL championship series for the first time in 21 years.

"I guess that's why we play five," McCutchen said. "We'll be ready for the fifth one."

The Pirates weren't quite ready for the fourth one, not with the way Wacha was dealing. He walked two and struck out nine before giving way to the bullpen in the eighth.

The Cardinals finished with only three hits but only really needed one: Holliday's two-run homer in the sixth off Charlie Morton.

"You could go back and look at pitches over and over again and second guess yourself," Morton said. "I don't know where that pitch was. It was outer third somewhere, thigh-down and he went out and got it, he's strong."

So was the 6-foot-6 kid on the mound, the one barely a year removed from a standout college career at Texas A&M. Wacha didn't permit a runner until walking Russell Martin leading off the sixth.

Wacha nearly no-hit the Washington Nationals in his last start on Sept. 24, surrendering only an infield single by Ryan Zimmerman with two outs in the ninth.

Working so quickly the Pirates never had time to get settled, he breezed through Pittsburgh's revamped lineup like he was in extended spring training. Mixing his fastball and changeup masterfully, Wacha overwhelmed the Pirates from the moment he stepped onto the mound.

"He went out and hit his spots and it seemed like everything we were hitting, we were just missing, just missing," McCutchen said.

Wacha's only mistake came in the eighth when he fell behind 3-1 to Alvarez and the third baseman hit a 93 mph fastball at the knees onto the concourse in right-center.

The jolt, however, faded when Molina nailed Harrison at second minutes later to set up a 24th - and final - meeting between two teams that have been shadowing each other all summer and into the fall.

While the Cardinals have the experience, the Pirates don't think it will be an advantage on Wednesday. They've been bucking history all year. One more night shouldn't be a problem.

"A lot of the guys in the clubhouse have never even been on a winning team, let alone the playoffs," Morton said. "I really think it's not about where we've been in terms of overall experience but where we are now. I think we've done a great job of that and staying in this thing level headed."

---

Follow Will Graves at HTTP://WWW.TWITTER.COM/WILLGRAVESAP

© 2013 THE ASSOCIATED PRESS. ALL RIGHTS RESERVED. THIS MATERIAL MAY NOT BE PUBLISHED, BROADCAST, REWRITTEN OR REDISTRIBUTED. Learn more about our PRIVACY POLICY and TERMS OF USE.

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