Posts Tagged ‘disease’
The price of silent mutations
Everyone has on average 400 flaws in their DNA, a UK study suggests…Most are “silent” mutations and do not affect health, although they can cause problems when passed to future generations…Others are linked to conditions such as cancer or heart disease, which appear in later life, say geneticists.
The evidence comes from the 1,000 Genomes project, which is mapping normal human genetic differences, from tiny changes in DNA to major mutations.
In the study, 1,000 seemingly healthy people from Europe, the Americas and East Asia had their entire genetic sequences decoded, to look at what makes people different from each other, and to help in the search for genetic links to diseases.
The new research, published in The American Journal of Human Genetics, compared the genomes of 179 participants, who were healthy at the time their DNA was sampled, with a database of human mutations developed at Cardiff University.
It revealed that a normal healthy person has on average about 400 potentially damaging DNA variations, and two DNA changes known to be associated with disease.
“Ordinary people carry disease-causing mutations without them having any obvious effect,” said Dr Chris Tyler-Smith, a lead researcher on the study from the Wellcome Trust Sanger Institute, Cambridge.
He added: “In a population there will be variants that have consequences for their own health.”
The research gives an insight into the “flaws that make us all different, sometimes with different expertise and different abilities, but also different predispositions in diseases,” said Prof David Cooper of Cardiff University, the other lead researcher of the study.
“Not all human genomes have perfect sequences,” he added. “The human genome is packed with pervasive, architectural flaws.”
It has been known for decades that all people carry some genetic mutations that appear to cause little or no harm. Many are only damaging if they are passed on to children who inherit another copy of the faulty gene from the other parent.
In others – around one in ten of those studied – the mutation causes only a mild condition, appears to be inactive, or does not manifest itself until later life.
Databases of human mutations, like the one at Cardiff University, will have increasing importance in the future, as we move into the era of personalised medicine…But as DNA sequencing becomes more widespread, ethical dilemmas will arise about what to tell people about their genes, especially when many risks are uncertain.
We all understand the range of dead ends available for time-wasting by ethicists. Especially those with one or another superstition to justify. I come down – in advance – on the side of the simplest and most democratic premise: knowledge is always useful. I don’t care if someone decides if it’s scary or silly – I have the right to know.
The company at the center of a deadly meningitis outbreak was warned by its own environmental monitors of bacterial contamination of its facility months before the first cases were reported…
Mold, and in some cases, an overgrowth of bacteria was detected in different areas of the New England Compounding Center’s two “clean rooms” nearly 90 times since January, a Food and Drug Administration report said…
Despite the warnings from its own monitors…the compounding center did not investigate the reports of the contamination nor is there documented evidence it worked to decontaminate the affected areas.
Tainted medications from the compounding center have been blamed for the outbreak of fungal meningitis that has caused 25 deaths and 338 illnesses.
The FDA’s preliminary findings were released following an inspection of the compounding center this month. In addition to documented reports of bacterial contamination, FDA investigators observed “greenish black foreign matter” and “white filamentous material” in vials of methylprednisolone acetate — the steroid linked to the meningitis outbreak…
The FDA report comes the same week that the Massachusetts Board of Registration in Pharmacy voted to revoke permanently the compounding center’s license to operate in the state as well as the licenses of the company’s three principal pharmacists.
Compounding centers like this get their exemption from federal oversight on the grounds of serving local and regional communities. The standard “states right” exemption from responsibility that conservative politicians roll in – like hogs in their own shite.
Meanwhile, these thugs have been selling their crap all over the United States and no one in the FDA noticed? No one in Congress noticed? We have elected officials who sit on their dead butts all day getting paid to examine so-called security risks of buying cellphone parts from China – but the health security risk from deadly drugs rolled out domestically to cut-price profiteers doesn’t raise an eyebrow in Washington, DC.
The profits of crime breed corruption. Same as it ever was.
A really silly tree frog
Parasites look set to become more virulent because of climate change, according to a study showing that frogs suffer more infections from a fungus when exposed to unexpected swings in temperatures.
Parasites, which include tapeworms, the tiny organisms that cause malaria and funguses, may be more nimble at adapting to climatic shifts than the animals they live on since they are smaller and grow more quickly, scientists said.
“Increases in climate variability are likely to make it easier for parasites to infect their hosts,” Thomas Raffel of Oakland University…told Reuters, based on findings about frogs and a sometimes deadly skin fungus.
“We think this could exacerbate the effects of some disease,” he said of the report he led with colleagues at the University of South Florida. It will be published in Monday’s edition of the journal Nature Climate Change…
“Few…studies have considered the effects of climate variability or predictability on disease, despite it being likely that hosts and parasites will have differential responses to climatic shifts,” they wrote…
Based on factors including their size, life expectancy and factors such as their metabolisms, the scientists said frogs probably took 10 times as long as fungus to get used to unexpected temperature changes, a process known as acclimation.
Raffel said that more tests were needed of other parasites and hosts to confirm the findings. “This study was only done on an single tropical frog species,” he said.
Unforeseen consequences lead back to the crap we human beings force upon this planet’s environment forever. The time for taking responsibility is past due.
Your morning cup of coffee may start to taste even better after a major government study found that frequent coffee drinkers have a lower risk of dying from a variety of diseases, compared with people who drink little or no coffee.
The report…analyzed the coffee-drinking habits of more than 400,000 men and women ages 50 to 71, making it the largest-ever study of the relationship between coffee consumption and health…
As expected, the researchers found that the regular coffee drinkers in the group were also more likely to be smokers. They ate more red meat and fewer fruits and vegetables, exercised less and drank more alcohol – all behaviors associated with poor health.
But once the researchers controlled for those risks, the data showed that the more coffee a person consumed, the less likely he or she was to die from a number of health problems, including diabetes, heart disease, respiratory disease, stroke, infections and even injuries and accidents.
Over all, the risk of dying during the 14-year study period was about 10 percent lower for men and about 15 percent lower for women who drank anywhere from two cups to six or more cups of coffee a day. The association between coffee and lower risk of dying was similar whether the coffee drinker consumed caffeinated or decaffeinated coffee. [That's certainly useful.]
Neal D. Freedman, the study’s lead author and an investigator for the National Cancer Institute, cautioned that the findings, based on observational data, show only an association between coffee consumption and lower risk for disease, so it isn’t known whether drinking more coffee will lead to better health. As a result, Dr. Freedman said that people should be conservative in interpreting the data, but that regular coffee drinkers can be reassured.
“It’s a modest effect,” he said. “But the biggest concern for a long time has been that drinking coffee is a risky thing to do. Our results, and some of those of more recent studies, provide reassurance for coffee drinkers that this isn’t the case. The people who are regularly drinking coffee have a similar risk of death as nondrinkers, and there might be a modest benefit…”
Phew! Actually, that’s a non-phew. I’ve been through coffee scares before. Inevitably, follow-on research negated the negatives and often discovered positives overlooked.
It is less than startling that the complex molecules resulting from brewing coffee contain many surprises. Coffee as a popular beverage has already exceeded the range of use one might expect from its use simply as stimulant. I admit to feeling smug that one of my morning pleasures has more positive characteristics than I assumed.
Now, I just need someone to determine what food group increases the likelihood of my fellow Americans acquiring a lifetime interest in education, science and honest government. I’d buy farmland tomorrow and start cultivation.
The U.S. Agriculture Department confirmed on Tuesday a California dairy cow had mad cow disease…the fourth such U.S. case since it was first found here in 2003, but said no parts of the animal entered the nation’s food supply.
John Clifford, the USDA’s chief veterinary officer, said there was “no cause for alarm” from the animal, which was found at a rendering plant that processes diseased or sick animals into non-edible products for use in things like soap or glue…
While there is no evidence that humans can catch it from drinking the milk of an infected cow, fears of a potential backlash among consumers and big importers of U.S. beef caused Chicago live cattle futures drop sharply…
The USDA is still tracing the exact life of the infected animal, which was found at an undisclosed rendering facility in central California.
The carcass of the cow, which the USDA said was infected by an “atypical” form of the disease, would be destroyed. The cow was not believed to have contracted the disease by eating contaminated food, the USDA added.
“There is really no concern for alarm here with regards to this animal. Both human health and animal health are protected with regards to this issue,” Clifford told reporters…
“The impact should not affect exports. Now, I’m not saying it may or may not, but it should not,” Clifford said, noting that the United States has been recognized by authorities as having taken steps to control its risks for the disease.
Beef exports plunged nearly 75 percent in 2004 in the wake of the first U.S. incident in late-2003, with USDA reporting net cancellations of beef sales in five out of the first six weeks following the news.
The panic factor is always underestimated – by choice – in press conferences of this character. Officials stand around with their fingers crossed behind their back – hoping they’re right about contagion, hoping they’re right about panic.
The Luddite Left will go bonkers. The populist right and the Kool Aid Party will find some way to blame Obama [does he even drink white milk?]. California politicians of both lame parties will back up the dairy industry regardless of standards.
The important task is what we’ve done best in the past. Isolate the cause after it’s found. Keep the food supply up to reasonable standards – whatever that might be.
A mysterious disease that has devastated North America’s bat population was traced…to a killer fungus imported from Europe, probably by an unsuspecting tourist.
Since it was first detected in New York state in 2006, the disease known as white nose syndrome has spread to 19 states and four Canadian provinces. It has wiped out entire bat colonies, killing as many as 6.7m animals, in the worst wildlife crisis in recent memory…
Now a team of researchers led by the University of Winnipeg have established the origins of the fungus, and determined how it kills – by rousing the bats during their winter hibernation season.
“The fungus somehow causes the bats to warm up from hibernation too often,” said Craig Willis, a biologist at the University of Winnipeg who oversaw the study by US and Canadian scientists…The extra effort, shaking bats from their torpor, exhausted the animals’ fat stores far too early in the hibernation season, causing them essentially to starve to death.
The most likely source of the fungus was human. The fungus, which has been identified, as Geomyces destructans, is known to have existed for years in Europe, but it does not kill bats there. In North America, however, the disease has wiped out entire bat colonies and spread as far south as Alabama.
The disease poses no threat to humans but it has knocked out a crucial part of the ecological chain. The average bat eats up to 1,000 of insects a year. Their loss could cost US farmers up to $3.7 billion a year…
The findings were seen as an important step to unravelling the mystery of the bat deaths…
The study offers no immediate fix. It is not clear how or why European bats developed resistance to the fungus or how it can be better contained. Researchers are not yet able to track the fungus to a particular country or cave in Europe.
At least it’s a start. Finding the broad source now aids in finding a spot source from which the ailment may be attacked from several directions.
The sudden drop in honeybees in recent years has led to widespread debate over the cause, with many blaming intensive farming methods that use more pesticides. However this was dismissed by other studies that found disease is just as damaging.
Now a French study, published in the journal Scientific Reports, suggests that it could be a combination of both, as pesticides weaken honeybees and they then die of disease.
I’m not surprised. We’re building the premises of our self-destruction if we don’t resume the fight for a clean environment.
The decline in honeybees first hit the headlines around 10 years ago with the mysterious death of whole hives in America, known as Colony Collapse Disorder or CCD. It is now believed that the US has fewer managed pollinators than at any time in the past 50 years. Many countries in Europe have also seen a decline and honeybee numbers in the UK have halved in the past 25 years…
In the latest study a laboratory at Université Blaise Pascal in France studied bees infected with a disease known as nosemosis and bees exposed to an insecticide known as fipronil. Neither of the case studies resulted in many deaths. However when the bees were exposed to both the disease and the insecticide, in any combination, a large number died.
Nicolas Blot, who led the study, said only “multi-factors” could explain the worldwide decline. He said the world community now has to work on how to minimise the stress on insects.
There are a few more details in the article. Problem is – we can’t even get a commitment to relieve or reduce stresses on human society much less insects. The first steps in any solution is throwing about 99% of all politicians out of office and removing 99% of the laws which only serve to keep lawyers employed.
Daylife/Getty Images used by permission
India has “never been closer” to wiping out polio, India’s health minister has declared as he marked World Polio Day.
There have been no new cases for more than nine months, making it the longest polio-free period since the global eradication campaign was launched. The only case reported this year was in the state of West Bengal in January. There were 39 cases reported over a similar period in 2010.
India is one of only four countries in the world where polio is still endemic. The virus is also prevalent in Afghanistan, Pakistan and Nigeria.
The overall trend in India is so positive that its vaccination programme is being discussed as one other countries might learn from.
Pakistan is a particular concern. It has seen 118 new cases so far this year concentrated in poor, insecure areas: Karachi, Baluchistan and the tribal areas close to the border with Afghanistan.
The two countries routinely re-infect each other. Afghanistan has seen 40 new cases this year. The continuing violence there also makes it hard to reach vulnerable children. Nigeria too has seen a surge in cases this year which have undermined recent gains…
Some communities simply do not trust the people who administer the vaccine and fear it could hurt their children… But they trust their priests.
The health ministry reported that no cases were reported from the northern state of Uttar Pradesh for 18 months…
Uttar Pradesh has been one of the worst-affected regions in the world’s fight against polio with hundreds of cases reported until a few years ago. Of the 549 polio cases in India in 2008, 297 were in Uttar Pradesh.
It is especially heartwarming for a grayhead like me to witness this victory. I grew up in a time when polio threatened all societies. Beaches and pools were often closed in summer because of the threat of contagion. All of us knew someone in every neighborhood who died or was left paralyzed by the disease.
I experienced each stage of vaccine development from early days of the first vaccinations, needle sticks and terrified children as kids always are over needles – on through to oral vaccines. The relief experienced by my parents, all parents in the factory town I grew up in. The minority of superstitious nutballs who kept their kids from safety were looked at as fools who fortunately only constituted a danger to themselves – and unfortunately to their own children.
Skeletons of the plague dead in London’s East Smithfield Cemetery
Daylife/AP Photo used by permission
Scientists have mapped out the entire genetic map of the Black Death, a 14th century bubonic plague that killed 50 million Europeans in one of the most devastating epidemics in history.
The work, which involved extracting and purifying DNA from the remains of Black death victims buried in London’s “plague pits,” is the first time scientists have been able to draft a reconstructed genome of any ancient pathogen.
Their result — a full draft of the entire Black Death genome — should allow researchers to track changes in the disease’s evolution and virulence, and lead to better understanding of modern-day infectious diseases.
Building on previous research which showed that a specific variant of the Yersinia pestis bacterium was responsible for the plague that ravaged Europe between 1347 and 1351, a team of German, Canadian and American scientists went on to “capture” and sequence the entire genome of the disease.
“The genomic data show that this bacterial strain, or variant, is the ancestor of all modern plagues we have today worldwide. Every outbreak across the globe today stems from a descendant of the medieval plague,” said Hendrik Poinar, of Canada’s McMaster University, who worked with the team…
For this study Poinar’s team analysed skeletal remains from Black Death victims buried in London’s East Smithfield “plague pits,” which are located under what is now the Royal Mint…
Poinar, whose work was published in the journal Nature, said the team found that in 660 years of evolution, the genetic map of the ancient organism had only barely changed. “The next step is to determine why this was so deadly,” he said.
Pathogens and pandemics aren’t about to disappear. Levels of preparedness afforded by modern medicine, vaccination and hygiene are constantly challenged by ignorance and superstition. Indeed, in the United States significant resistance to well-proven methods flows like a river of political pus from the combination of religious nutballs and opportunist populists.
Living in a state that confronts deaths from plague every year, there is currency to the contemplation of historic tragedy. Living in a state where parents can refuse a vaccine for their children on religious grounds thereby endangering other children by the hundreds – research that supports greater depth of response to the dangers of pandemic is a necessity.
The Centers for Disease Control and Prevention is a big, serious government agency with a big, serious job: protecting public health from threats ranging from hurricanes to bird flu.
So when the good doctors of Atlanta warned people this week about how to prepare for a zombie apocalypse, the world took notice.
“That’s right, I said z-o-m-b-i-e a-p-o-c-a-l-y-p-s-e,” Dr. Ali S. Khan wrote on the CDC website this week, adding casually that “Resident Evil” is his “personal favorite” zombie movie.
As it happens, Khan, one of the nation’s top-ranking public health professionals (he’s a rear admiral and an assistant surgeon general), doesn’t actually believe the living dead are about to claw their way out of graves and start chewing on your brain.
But, he and his communications team recently noticed, what they’d want you to do if the world really did suddenly go “Night of the Living Dead” is pretty much the same thing they’d want you to do in case of a hurricane or a major pandemic…
The CDC got a question about zombies during an online chat about radiation leaks related to the meltdown at Japan’s Fukushima Daiichi nuclear plant in March, and they saw traffic spike.
Khan and his communications team knew they’d found a way to get the public interested in disaster preparedness, he said.
So they posted the advice on Monday. Their website crashed on Wednesday.
The advice is mostly stuff you should already know: Make an emergency plan. Stockpile food, water and medicine. Have a utility knife, duct tape and battery-powered radio handy, along with some changes of clothes and bedding…Have basic first aid supplies handy for a hurricane or a pandemic — although, Khan says, “you’re a goner if a zombie bites you.