When genetic testing throws up more questions than answers

When genetic testing throws up more questions than answers

AnneMarie Ciccarella, a 57-year-old brunette who speaks quickly with a hint of New York accent, thought she knew a lot of breast cancer. Her mother was diagnosed with the disease in 1987, and several other women have also developed the disease.

When doctors found a suspicious breast lump that turned out to be cancerous, it immediately sought mutation testing on the two BRCA genes, which represent about 20 percent of families with a strong history of breast cancer.

Ciccarella assumes that the results would be positive. They were not. Instead, we only identify a variant called unknown or uncertain meaning (SUV) in BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease or benign diseases are not, these genetic variations are simply not sufficiently understood whether they are involved or not.

“I thought I might have a mutated gene or not, and with all the cancer in my family, I thought I was going to bring a change. I did not know there was a big third category,” he said. “I have not had any information that it was a huge loss of blood by a big question mark.”

Thousands of people tested their BRCA genes for increased genetic susceptibility to the breast, ovary, prostate and others. About 5 percent said they were an SUV. This number is even higher for other genes: in one study, nearly 20 percent of genetic testing gave an SUV result.

Genetic variants that cause disease are rare, but that does not mean that all rare variants cause disease. Should we change the way we manage uncertainty in genetic testing?

“It’s a lot of uncertainty,” said Robert Klitzman, a bioethicist at Columbia University in New York. People want genetic testing like pregnancy tests, it says: “If you are pregnant or your place is not, they look more like a time report” and most people are not ready to deal with the odds and The uncertainties that result.

When scientists asked a group of women that a year after receiving the results of the BRCA test, women whose results were uncertain or non-informative felt much more stress and anxiety than those whose results were mild or pathogenic.

A follow-up study showed that the greater the risk a person thought their outcome indicated, and she was more tolerant, she was more likely to experience a serious distress in the long run.

Even before her sequencing results appear, Ciccarella decided to have a bilateral mastectomy based on her family history. For her, if she ever developed breast cancer has been answered, and in the worst possible way.

But she still wanted the information for her son and daughter so they could see if they had inherited a genetic risk of cancer. As a number of families, they learn that genetic sequencing will not provide answers at all.

We are all mutants. The three billion DNA fragments we do have always been considered as constant, granite monument chiseled as a classic, with only small changes made here and there. Scientists used to believe that DNA mutations were largely harmful.

Lab notes: Bangladesh ‘litchi deaths’ now linked to excessive pesticide on fruit

Lab notes: Bangladesh ‘litchi deaths’ now linked to excessive pesticide on fruit

A medical research into the deaths of 13 children in Bangladesh in 2012 revealed that they were probably caused by insecticides, not lychee seeds.

The children, from a rural community in Dinajpur district, northern Bangladesh, all had an acute encephalitis syndrome or AES – a condition associated with fatal brain inflammation.

Fourteen children became ill between May 31 and June 30, 2012 and only one survived. All deaths occurred within 20 hours of onset of symptoms and have been associated with exposure to lychee fruits, which is grown in South Asia.

Similar deaths were recorded in Muzaffarpur, a district of Bihar, India. Analysis of these cases indicate that toxic compounds in lychee fruits trigger low blood sugar levels of malnourished children who skipped the dinner that leads to death.

However, a team of researchers from the International Center for Research on Diarrheal Diseases and Disease Control and the Institute for Epidemiology Research in Bangladesh and the Centers for Disease Prevention and Control and the Center for Disease Prevention and Control Global health in the United States referred to the death of Bangladesh lychee and found that AES was probably triggered by excessive and inappropriate application of pesticides and other agricultural chemicals in local fruit orchards.

The researchers pointed out that lychee seeds were not consumed and if the seeds were the cause, there would have been no scattered cases across the country and not just in a small area.

Scientists discovered that the epidemic in 2012 occurred at the time of harvest and farmers applied endosulfan in orchards, a highly toxic insecticide that has been banned in more than 80 countries. By 2016, Bangladesh was one of many countries, including India and the United States, which still allows restricted use of endosulfan.

Local residents told investigators that it was common for children to play in the orchards and eat unwashed fall fruit, using their teeth to peel thick skin. In addition, several of the victims had family members working in the orchards and this may be an increase in insecticide exposure to residues in used household linen.

The research team collected physical evidence gardens, which include containers of insecticides and other released chemicals. Residents were interviewed and found that many chemicals were applied to the fruit and in quantities much larger than those normally used by other lychee producers.

The study also found evidence that lychee producers apply an insecticide that had been approved for use in cotton, not food crops. The results were published in the American Journal of Tropical Medicine and Hygiene. Scientists plan to conduct follow-up studies for more liver biopsies in biological evidence and brain victims.

Champions Trophy, India vs Bangladesh: Yuvraj, After 8622 Runs And 14 Tons, Set To Play 300th ODI

Champions Trophy, India vs Bangladesh: Yuvraj, After 8622 Runs And 14 Tons, Set To Play 300th ODI

Champions Trophy, India vs Bangladesh: Yuvraj, After 8622 Runs And 14 Tons, Set To Play 300th ODI

It was a precocious talent store, a rare combination of grace and power, but for most of his 17-year career, Yuvraj Singh has been an enigma as well as a paradox in Indian cricket.
Standing at the forefront of its 300th day international day, it remains a difficult task to describe with Yunraj.

He is just the fifth cricket player in India – after Mohammed Azharuddin, Sachin Tendulkar, Sourav Ganguly and Rahul Dravid – to achieve the rare milestone.
The 40 test matches he played will not tell the story of a cricket player who will invariably be one of the big winners of India’s limited games cricket. And this list is not too big.

Kapil Dev, Tendulkar and Mahendra Singh Dhoni are the names that come to mind when talking about the winners of the game in the shorter versions. And this is the paradox.

At times it seemed that there were two Yuvrajs residing in a single player.
First, there was a “Yuvraj 1.0”, which, in 18 years, was not intimidated by Glenn McGrath, Brett Lee and Jason Gillespie at their peak in their first ODI entries.
It was Yuvraj, who won an Indian Natwest final trophy at the “Cricket House” when everything seemed lost.

And remember in 2002, continued for 320 total was a deviation from the established norm of what was considered impossible in 50 on cricket at the time.
And it was Yuvraj, who scored a classic 139 in Sydney against an attack including Lee, Andy Gillespie and Bichel.

But there was also “Yuvraj 2.0”, which could never decipher the test code. Some attribute it to the lack of temperament, while others say that their best years coincided with Ganguly’s second coming in test cricket and could play this number.

5 places. And Ganguly at that time, was a better test player.
He showed, on occasion, shine chips, but every time the change of SG balls red SG or Duke’s cuckoo, there was nothing in the battalion Prince Yuvraj.

User doubts have slipped while facing spinners, pitchers, especially out-breakers such as Sri Lanka supermainist Muttiah Muralitharan, who took the ball to divert the left.

There was some century of proof against Pakistan, but it could never cement its place.
It was a cricket white balls where he found his mojo, and Yuvraj stood firm with his huge contribution within the two World Cup triumphs in India.

The six six of Stuart Broad during the inauguration of the World T20 in 2007 was the catalyst of Lalit Modi to sell the “Great Indian dream” in the world – IPL – that was at the height of money.

Winning the tournament helped to grow and these six seeded the seeds of another brand of cricket.
But strangely, Yuvraj could never become a legend because his T20 IPL stats can not even remotely match Suresh Raina.

But until T20 cricket is there, Yuvraj will remain in everyone’s collective consciousness. This is why Yuvraj remain an enigma!
And then came the great World Cup 2011. The six Mahendra Singh Dhoni has a memorable value – shown on several occasions – as Kapil Dev calls Vivian Richards in the 1983 final.

But, perhaps, one of the biggest reasons for the victory of India was 15 windows and 300 odd races Yuvraj has taken.
During his work, Yuvraj killed blood, could not eat, and was fully aware that he suffered from a rare germ cell cancer.

“He was an inspiration, a champion on and off the field and I respect him for that,” said captain Virat Kohli about the oldest cricket team player.
The fight against germ cell cancer was the biggest he has ever faced in his life. It was harder for Lee Yorker or James Anderson to outsank.
The phases of life through which he passed, anyone else would have been happy to survive, but Yuvraj wanted to play.

He made a comeback and it was an emotional emotional feeling. But after all the blueprints, there is a weak and Yuvraj was the T20 World Final in 2014 against Sri Lanka in Dhaka. He scored 11 of 21 balls and India lost the game because he could not accelerate.