Mutations In a Father’s Sperm Could Predict Risk of Autism In Children, Study Finds

A new study from the University of California San Diego School of Medicine has found that 'de novo mutations' in a father's sperm can predict the risk of autism in a child (file image)

Mutations in a father’s sperm could predict the risk of a child being diagnosed with autism, a new study suggests. The genetic flaws, known as ‘de novo mutations’, can appear in a child’s DNA through problems with sperm production.

Researchers found that 15 percent of men with autistic children had these disease-causing mutations in their sperm.The team, from the University of California San Diego School of Medicine, says the findings could lead to test in which fathers have their sperm screened to determine their future children’s risk of the developmental disorder.

Autism spectrum disorder (ASD) is a developmental disorder in which sufferers have a hard time communicating and with behavior.It encompasses several conditions – including autism and Asperger’s syndrome – and symptoms can range from mild to severe.

Children are usually diagnosed by age two after they exhibit signs such as reduced eye contact, not responding to their name and performing repetitive movements.According to the Centers for Disease Control and Prevention, about one in 59 children has ASD.

Boys are much more likely – up to four times – to have the condition than girls. Despite decades of research, the causes of ASD remain a mystery. Both genetics and environmental factors are believed to play a role. However, recent studies have suggested that de novo mutations may be the cause of between 10 and 30 percent of ASD cases.

These mutations occur for the first time in a family member as the result of a mutation in the sperm or egg of a parent. For the study, published in the journal Nature Medicine, the team looked at the sperm of eight fathers who had children already diagnosed with ASD.

The sperm was analyzed for mosaicism, a condition in which a person has genetically different sets of cells within their body. ‘While medical textbooks teach us that every cell in the body has an identical copy of DNA, this is fundamentally not correct,’ said first author Dr Martin Breuss, an assistant project scientist at UC San Diego Health Sciences.

‘Mutations occur every time a cell divides, so no two cells in the body are genetically identical.’ Mosaicism occurs in an unborn baby’s early developmental stages after an error in cell division. ‘[It] can cause cancer or can be silent in the body. If a mutation occurs early in development, then it will be shared by many cells within the body,’ said Dr Breuss.

‘But if a mutation happens just in sperm, then it can show up in a future child but not cause any disease in the father.’Disease-causing mutations were found in about 15 percent of the fathers’ sperm cells, the researchers said.

‘My laboratory has a long-standing interest in understanding the origins of pediatric brain disease, and how mutations contributes to disease in a child,’ said co-senior study author Dr Joseph Gleeson, a professor of neuroscience at UC San Diego School of Medicine.

‘We previously showed that mosaicism in a child can lead to diseases like epilepsy. Here, we show that mosaicism in one of parents is at least as important when thinking about genetic counseling.’

The researchers say their findings could be developed into a clinical test that fathers could undergo to test the risk of recurrence in future children or for men who haven’t had children yet but want to know the risk.

By:  Mary Kekatos

Source: Mutations in a father’s sperm could predict risk of autism in children, study finds | Daily Mail Online

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3 Things To Ask Your Doctor About Breast Cancer Treatment

As far as illnesses go, breast cancer is a relatively common one: 13 percent of women in the United States will develop breast cancer over their lifetime, according to the National Cancer Institute. That works out to one in eight women, so if you know more than eight women, odds are you probably know someone who has had or will be diagnosed with breast cancer in the future.

And if you’re trying to understand your risk of developing breast cancer or if you or a loved one are facing a diagnosis, that means one thing: You probably have questions for a doctor.

To help you assemble your list, we asked Virginia Kaklamani, MD, leader of the Breast Cancer Program at UT Health San Antonio MD Anderson Cancer Center, for her advice on what to ask. According to Dr. Kaklamani, there are a few important things to keep in mind as you’re crafting your questions, such as your family history, lifestyle risk factors, and available treatment options.

On the treatment front, Dr. Kaklamani says one of the misconceptions she hears most often is that breast cancer treatment always involves chemotherapy and is very toxic. In response, she reminds people how far treatment options—and the tools we have to determine which treatment may work best for each individual person—have come in the past 20 years.

Case in point: Just last year, a landmark study published in The New England Journal of Medicine showed that, thanks to a genomic test called the Oncotype DX Breast Recurrence Score® test, even more patients with a common type of early-stage breast cancer may be spared chemotherapy than previously thought, including those who are traditionally considered higher-risk due to their cancer spreading to at least one lymph node.

That means more treatment plans tailored to each individual patient, and less of a chance of overprescribing chemo to those who may not benefit from it.

Learning something already? With education in mind, we asked Dr. Kaklamani to share her insights on questions you should ask your doctor about breast cancer—whether you’re trying to stay on top of your health, or you’re exploring your breast cancer treatment options.

What role does race play in breast cancer?

There are many factors that contribute to breast cancer risk, including age, family history, alcohol consumption, obesity, and race. White women are most likely to develop breast cancer, Dr. Kaklamani says, though Black women are more likely to die from it (40 percent more likely, according to the Centers for Disease Control and Prevention).

Studies have shown that Black women have a higher risk of being diagnosed with later stages of disease,” Dr. Kaklamani says. “So instead of coming in with stage one or stage two, they might come in with stage two or three or even stage four breast cancer. It’s been very hard to understand why.

Most of the data suggests that it’s related both to the type of breast cancer that they get (because they get more triple negative breast cancer—that’s more aggressive, so we tend to find it later), but also to socioeconomic factors.”

By asking your doctor to discuss the connections between race and breast cancer with you, you’ll be able to more openly advocate for yourself and properly assess your personal risk factors.

What types of tests are available to provide insight about a breast cancer treatment plan?

If you have breast cancer, you should definitely ask your doctor for a thorough rundown on your treatment options, Dr. Kaklamani says, starting with the types of tests available to help craft your individual treatment plan.

Genomic tests—like the Oncotype DX® test—look at the specific genes in a tumor to see whether they are over- or under-active. For people diagnosed with early-stage invasive breast cancer (HR-positive and HER2-negative with or without involvement of the lymph nodes), the Oncotype DX Breast Recurrence Score® result tells patients and their doctors not only how aggressive their cancer is and the risk of it returning, but more importantly, whether chemotherapy might be a beneficial treatment option or if it can be safely omitted, Dr. Kaklamani says.

“The good thing about the [result that you get from the Oncotype® test] is that it’s specific to the woman that we are testing,” she says. “All of these clinical trials that we’ve done have included thousands and thousands of women, [but] none of those women are present in my office when I talk to that specific person about their breast cancer. [Each test result] represents that woman’s breast cancer.”

Personalized is obviously better when it comes to something as delicate as cancer treatment (you wouldn’t take someone else’s prescription medicine, would you?), so asking your doctor about genomic testing can help ensure you’re getting a treatment plan that’s properly tailored to your needs.

Should I be doing a self breast exam?

In 2015, the American Cancer Society stopped recommending that people perform their own breast exams, but that doesn’t mean you’re off the hook for keeping tabs on your breast health, Dr. Kaklamani says.

“The guidelines are very clear that there has to be what they call ‘breast self awareness,'” she says. “This is extremely important to be aware of what your breasts look like, and if you do notice something that has changed, that you see your physician immediately.”

Dr. Kaklmani notes that one study showed that nurses who were taught how to properly perform self breast exams were able to accurately detect their breast cancer—demonstrating that if people are properly trained, self breast exams can be effective. That training should fall on gynecologists and primary care physicians, she says, so ask yours for instructions during your next visit.

By: Dr. Kaklamani Paid consultant for Exact Sciences Corporation.

Source: 3 Things To Ask Your Doctor About Breast Cancer Treatment | Well+Good

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Stool Tests Might Help Spot Early Pancreatic Cancer

Stool tests might provide a useful way to help doctors spot early pancreatic cancer, say researchers.

They have been trialling the concept in a study with 136 volunteers.

The findings, described in the journal Gut, suggest detectable changes involving gut bugs could provide a warning sign that a tumour is present.

Pancreatic cancer often doesn’t cause symptoms in the early stages. That means it is usually more advanced and harder to treat when it is found.

As the cancer grows it may cause vague symptoms, such as indigestion, changes to bowel habit and some tummy or back pain. Some people see their GP several times before being diagnosed.

Currently, fewer than one in 20 of those with the most common form – ductal adenocarcinoma – will survive for five years or more. Earlier detection could improve those odds.

The Spanish team behind the work recruited patients from two hospitals – one in Madrid and the other in Barcelona. Only some of the patients had pancreatic ductal adenocarcinoma, while the others were selected as controls for comparison.

The researchers collected and analysed spit and stool samples from the volunteers to see if there was any discernible difference between the groups.

While the saliva samples drew a blank, the stool ones did show a difference that the team believe could be useful for helping to diagnose pancreatic cancer.

It was a distinct pattern or genomic profile of gut bacteria, fungi and other microbes.

This consistently identified patients with the disease, irrespective of how far it had progressed, suggesting that characteristic microbiome signatures emerge early on and that the stool microbiome might pick up early stage disease, say the researchers.

They recommend more studies – and some are already taking place.

Independent researchers in Germany have validated the findings in a small number of patients, and the test is also being trialled in Japan.

Source: Stool tests might help spot early pancreatic cancer – BBC News

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Critics: By: Samuel Lovett

Stool samples could soon be analyzed to help detect pancreatic cancer after scientists identified microorganisms that appear to place individuals at greater risk of developing the illness. In a study of 136 people, scientists found that 27 different microbes were abundant in the stool samples of those diagnosed with the most common form of pancreatic cancer.

This “microbial profile” consistently identified patients with the disease, irrespective of how far it had progressed, raising hope that a new screening test could be developed to diagnose pancreatic cancer.

Pancreatic cancer is deadly and can be very difficult to treat, with only around one in four people surviving one year or more after diagnosis. Dr Helen Rippon, chief executive of Worldwide Cancer Research, which helped fund the study, said: “This new breakthrough builds on the growing evidence that the microbiome – the collection of microorganisms that live side by side with the cells inside our body – is linked to the development of cancer.

References

“Can pancreatic cancer be prevented?”. American Cancer Society. 11 June 2014. Archived from the original on 13 November 2014. Retrieved 13 November 2014.

Russian Seizure of Ukraine Nuclear Plant Sparks Worries About Radiation

Russia’s seizure of a Ukrainian nuclear power plant has raised fears about access to data, atomic experts said, although they stressed they did not see immediate radiological risks and a U.N. watchdog said its reactors were undamaged.

Russian forces captured the Zaporizhzhia plant – Europe’s largest – after attacking it in the early hours of Friday, setting an adjacent five-storey training facility on fire

Russian forces captured the Zaporizhzhia plant – Europe’s largest – after attacking it in the early hours of Friday, setting an adjacent five-storey training facility on fire, Ukrainian authorities said. Russia has blamed the attack on the plant on Ukrainian saboteurs.

In a press conference on Friday, Atomic Energy Agency (IAEA) chief Rafael Grossi said no damage had been done to the Zaporozhzhia reactors and Ukrainian staff continued to operate the nuclear facilities while Russian forces controlled the area.

The monitoring system at the site was functioning normally and there had been no release of radioactive material, Grossi said.

Park Jong-woon, a professor at the energy and electric engineering department of Dongguk University, said he did not think there was an immediate radiological threat posed by the plant’s seizure, but added Russia could disrupt public access to data to sow confusion.

“They can make people wonder, freak them out and spread fear,” said Park, who worked at state-run power operators between 1996 and 2009, helping build nuclear reactors.

The fire at the Zaporizhzhia facility has since been extinguished but it had raised “a very real concern” about the potential for disaster, Edwin Lyman, director of nuclear power safety at the Union of Concerned Scientists in Washington D.C., said.

“For example, the prospect of a widespread fire, although that appears not to be the case, could disable the plant’s electrical systems and lead to an event very much like Fukushima if cooling is not restored in time,” he said.

More broadly, experts expressed worries about access to real time data necessary for gauging the radiation situation on the ground.

The official website for radiation readings at the Zaporizhzhia site was not immediately accessible as of Friday afternoon, Lyman said.

Since last week’s takeover by Russian forces of Chernobyl – the site of the world’s worst nuclear disaster and now a defunct power plant – monitoring of radiation levels there has been more difficult, according to Kenji Nanba, who heads Fukushima University’s Institute of Environmental Radioactivity and has been involved in a joint research project with Ukrainian scientists.

He said an official Ukrainian website with hourly radiation measurements from Chernobyl’s exclusion zone had been down for days and that another site had gradually lost most of its real-time readings.

Although the damaged Chernobyl reactor is stable and is covered under a large new containment structure, Nanba said it was still crucial for researchers like himself to track radiation data at the site to make sure there were no sudden changes.

Elevated radiation readings were recorded near Chernobyl after it was taken over by Russian forces last week, but experts say those were most likely caused by military activity that kicked up irradiated dirt and earth into the air.

The fourth reactor at Chernobyl exploded in April 1986 during a botched safety test, sending clouds of radiation billowing across much of Estimates for the numbers of direct and indirect deaths from the disaster vary from the low thousands to as many as 93,000 extra cancer deaths worldwide.

Source: Russian seizure of Ukraine nuclear plant sparks worries about radiation | Business Standard News

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Omicron Job Loss? Unemployment Claims Unexpectedly Spike One Week After Steep Drop In Jobless Benefits Numbers

The number of new unemployment claims unexpectedly jumped for the second week in a row this month, despite a steep drop in the overall number of Americans receiving unemployment benefits just one week earlier—a concerning sign for the labor market recovery after experts warned a record surge in coronavirus cases—spurred by the rapidly spreading omicron variant—could slow the economic recovery.

About 230,000 people filed initial jobless claims in the week ending January 8, an increase of 23,000 from the previous week, according to the weekly data released Thursday. Economists were only expecting about 200,000 new claims last week, according to Bloomberg data.

“This may well be the first report suggesting Omicron is leading to new job loss,” Bankrate senior economic analyst Mark Hamrick wrote in a Thursday note, pointing out the largest increases were reported in California and New York, where new claims totaled more than 20,000 combined.

The new report also showed the number of Americans receiving unemployment benefits fell to less than 1.6 million in the week ending January 1, a decrease of 194,000 from the previous week and the lowest level since June 1973.

“The future path of the pandemic remains highly uncertain, but the underlying job market narrative overall continues be one of scarcity of available applicants and workers,” Hamrick said. “The latest wrinkle, the high level of individuals testing positive, becoming ill or staying away from work, has added to supply chain disruptions with inflation already running red-hot.”The new unemployment data comes after a disappointing labor report on Friday showed the U.S. added a lower-than-expected 199,000 jobs in December.

After the report, Hamrick said it was still “difficult to measure” the economic impact of the omicron variant at that point and cautioned against dismissing its potential, pointing out widespread worker shortages, stoked in part by lingering concerns over the pandemic, remain a big uncertainty.

Economists surveyed by Bankrate said the variant could weigh on job growth in the first three months of the year, but estimated the unemployment rate will fall from 3.9% to 3.8% in a year. Moody’s Analytics’ Mark Zandi shared a similar word of caution, saying, “Risks are rising,” and forecasting that the economic recovery “is set to turn soft” as omicron stunts business. Amid the latest surge, credit card spending and restaurant bookings have already dropped substantially, while widespread flight cancellations have been another economic concern, Zandi notes.

According to the Labor Department, the U.S. has thus far recovered about 80% of the 20.5 million jobs U.S. employers cut between March and April of last year.

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I’m a senior reporter at Forbes focusing on markets and finance. I graduated from the University of North Carolina at Chapel Hill, where I

Source: Omicron Job Loss? Unemployment Claims Unexpectedly Spike One Week After Steep Drop In Jobless Benefits Numbers

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