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At-home gene test for breast, ovarian cancers looks effective

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Screening for breast and ovarian cancer genes might be added to the list of medical tests that can be safely and effectively done from home, new research suggests.

The study looked at screening for BRCA1, BRCA2 and other gene mutations linked to an increased risk of breast and ovarian cancer. Women with a BRCA1 or BRCA2 mutation have as much as a 7 in 10 chance of getting breast cancer by age 80, according to the American Cancer Society.

Typically, this genetic testing requires a pre-screening counseling session with a genetic counselor. After the test, women usually return for a post-screening session to get their test results.

But a number of services have begun offering BRCA gene testing at home — and not all offer counseling.

“We really wanted to figure out how to make genetic testing more accessible to women in their homes, but we wanted to know if that would create stress or anxiety,” said study lead author Dr. Elizabeth Swisher. She is director of gynecologic oncology at the University of Washington.

Counseling is important for women who learn they have genetic mutations, such as BRCA1 or BRCA2. Because of their higher risk for developing certain cancers, some women with these mutations choose to have prophylactic removal of their breasts or ovaries. Actress Angelina Jolie chose to have a double mastectomy in 2013 after learning that she had the BRCA1 mutation. She had her ovaries removed in 2015.

The study included more than 3,800 women from centers in the United States. Their average age was 44, and most were white. The genetic test they were given relies on the use of saliva. The test looked for BRCA1 and BRCA2 mutations, as well as thousands of other less common genetic mutations linked to breast or ovarian cancers.

Just over 7 percent of the women had a mutation in a breast or ovarian cancer gene.

The researchers looked at whether women were comfortable forgoing either pre- or post-test genetic counseling, or both.

Eighteen percent of the women had high distress three months after the test, but it didn’t seem to matter what level of counseling they had experienced.

Distress levels were lowest for women who received no pre- or post-test counseling. But none of the groups were significantly different in terms of distress levels. The researchers also found that anxiety, depression or regret about having the test was similar in all of the testing situations.

Also, women who received online genetic education but no counseling were most likely to complete the testing.

Swisher said the off-the-shelf cost of the test is about $250. Insurance coverage would likely make this cheaper, she said.

She suggested customers should be wary of “recreational” genetic tests if one wants the information for medical decision making.

“If you want to assess your cancer risk, genetic testing is something to consider. At a minimum, you should ask parents and other relatives about your family cancer history — where did the cancer start, at what age and what relative? Certain patterns [like a young age when first diagnosed] can suggest hereditary risk,” Swisher said.

Dr. William Cance, chief medical and scientific officer for the American Cancer Society, said, “Home testing could be a major step forward in getting screening to as many people as possible. It saves time, travel and copays.”

Plus, he said, there is a shortage of genetic counselors. With home screening, women who don’t have genetic mutations could likely get their results faster and be “reassured quickly.”

For women who have a genetic mutation, Cance added, “I think it is essential that women get counseling for a positive result.”

The study was presented Friday as part of the American Society of Clinical Oncology virtual meeting. Findings presented at meetings are typically viewed as preliminary until they’ve been published in a peer-reviewed journal.

The study was funded by Stand Up to Cancer, the Ovarian Cancer Research Alliance and the National Ovarian Cancer Coalition.

More information

Learn more about genetic testing for breast cancer genes from the American Cancer Society.

Copyright 2020 HealthDay. All rights reserved.



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Study: NSAID pain relievers don’t increase risk for severe COVID-19

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Sept. 8 (UPI) — People who use non-steroidal anti-inflammatory drugs, or NSAIDs, to treat pain are not at risk for more severe illness from COVID-19, according to a study published Tuesday by the journal PLOS Medicine.

Among users of NSAID pain relievers like ibuprofen and diclofenac infected with the new coronavirus, nearly 25% needed to be hospitalized, 5% required admission to the intensive care unit and 6.3% died, the data showed.

To compare, for those who did not use these drugs but tested positive for COVID-19, 21% were hospitalized, 5% needed ICU care and 6.1% died.

In the early phases of the pandemic, there were concerns that the use of the painkiller ibuprofen may lead to a more severe course of coronavirus disease, the researchers, from the University of Southern Denmark and Aarhus University Hospital in Denmark, said.

“Considering the available evidence, there is no reason to withdraw well-indicated use of NSAIDs during the pandemic,” they wrote.

“However, the well-established adverse effects of NSAIDs, particularly their renal, gastrointestinal and cardiovascular effects, should always be considered, and NSAIDs should be used in the lowest possible dose for the shortest possible duration for all patients,” they said.

Ibuprofen and other NSAIDs are some of the most commonly used medications in the United States, with an estimated 30 million doses consumed and 70 million prescriptions administered annually, according to the American College of Rheumatology.

For this study, the researchers obtained data on all 9,326 Danish residents who tested positive for COVID-19 between Feb. 27 and April 29, including NSAID use, hospitalization, ICU admission and need for mechanical ventilation and acute renal replacement therapy.

Overall, 248 people — or just under 3% — of the patients included in the analysis had filled a prescription for NSAIDs within 30 days of their positive virus test, according to the researchers.

There was no association between disease severity and NSAID use, the researchers said.

Another study published Aug. 12 had similar findings.



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Low-dose electrical stimulation helps adults with dyslexia read, study finds

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Sept. 8 (UPI) — Electrical stimulation of the brain improves reading accuracy in adults with dyslexia, according to a study published Tuesday by PLOS Biology.

Transcranial alternating current stimulation, a non-invasive procedure that delivers low-dose electricity to the brain over a period of 20 minutes, was found to improve phonological processing — or ability to discern how words sound or are pronounced — and reading accuracy in 15 adults with dyslexia, the researchers said.

The beneficial effect on phonological processing was most pronounced in those individuals who had poor reading skills, while a slightly disruptive effect was observed in very good readers, they said.

Dyslexia, known commonly as a reading disorder, affects up to 10% of the population, and is characterized by lifelong difficulties with written material,” according to the researchers, who are from the University of Geneva in Switzerland.

Although several possible causes have been proposed for dyslexia, the predominant one is a phonological deficit, or a difficulty in processing word sounds, the researchers said.

The phonological deficit in dyslexia is associated with changes in rhythmic or repetitive patterns of electrical activity in the brain, specifically “low-gamma” oscillations, measuring at 30 hertz or volts, in the left auditory cortex, they said.

However, studies have yet to prove that these these oscillations affect a person’s ability to process word sounds and cause dyslexia, the researchers said.

For this study, the researchers applied transcranial alternating current stimulation over the left auditory cortex in 15 adults with dyslexia and 15 fluent readers for 20 minutes.

At a dose of 30 hertz or volts, the approach resulted in significant improvement in reading accuracy in those with dyslexia, the researchers said.

However, the same improvements were not seen following application of a higher, 60-hertz dose, they said.

The results demonstrate for the first time that low-gamma oscillatory activity causes deficits in phonemic processing and may pave the way to non-invasive treatments aimed at normalizing oscillatory function in auditory cortex in people with dyslexia, the researchers said.

They plan “to investigate whether normalizing oscillatory function in very young children could have a long-lasting effect on the organization of the reading system [and] explore even less invasive means of correcting oscillatory activity,” study co-author Silvia Marchesotti, a post-doctural researcher at the University of Geneva, said in a press release.



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Surgery may help sleep apnea patients who struggle with CPAP

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Continuous positive airway pressure may be the go-to treatment for sleep apnea, but many people struggle to use it every night. For those who cannot tolerate CPAP, new research finds that a combination of surgical techniques may bring relief.

The “multilevel” treatment includes removing the tonsils, repositioning the palate — roof of the mouth — and using radiofrequency to slightly reduce the size of the tongue. In combination, these procedures open up the airway and reduce breathing obstruction, the researchers said.

The study found that the multilevel surgery technique reduced the number of times people stopped breathing — apnea events — during sleep and improved daytime sleepiness. People also reported better quality of life after the treatment.

“Obstructive sleep apnea is common and many people cannot use the main treatments, like CPAP masks. Surgery is a valid option when an expert surgeon is involved, and it can improve outcomes,” said the study’s lead author, Dr. Stuart MacKay. He’s an honorary clinical professor of otolaryngology, head and neck surgery at University of Wollongong, in Australia.

The researchers said that nearly one billion people worldwide suffer from sleep apnea. The airway becomes blocked during sleep, and as a result people stop breathing for short periods of time, multiple times throughout the night. People with sleep apnea have a higher risk of daytime sleepiness, motor vehicle crashes, and heart disease and stroke.

CPAP does a good job at keeping your airway open as you sleep, but the treatment — including a mask and a long tube — can be hard to get used to. The study authors said only about half of people with sleep apnea try CPAP.

For the new study, the researchers recruited 102 overweight or obese people with sleep apnea from six clinical centers in Australia, who were in their 40s, on average. The goal was to see if surgery could help adults with moderate or severe obstructive sleep apnea who weren’t able to tolerate or adhere to CPAP devices.

Half of the volunteers were randomly assigned to receive the sleep apnea surgery, while the other 51 continued with medical treatment. Medical management consisted of encouraging weight loss, drinking less alcohol, changing sleep posture and medical treatment for nasal obstruction.

MacKay said the multilevel surgical technique is widely available in many parts of the world. For the patients in this study, surgeries were performed by seven experienced surgeons.

Six months after the surgical procedures, volunteers in the surgery group had about a 27% decrease in the number of apnea events at night. Those on medical treatment had just a 10% decrease.

People in the surgical group also had major improvements in levels of snoring and daytime sleepiness, as well as a boost to quality of life.

As with any surgical procedure, there are risks.

“The main risks of pain and bleeding are confined to the two weeks after surgery. Bleeding occurs in about one in every 25 patients. Long-term risks related to taste disturbance, feeling of sticking in the throat, swallow dysfunction are very rare, although they do occur transiently in some,” MacKay said.

Dr. Steven Feinsilver is director of the Center for Sleep Medicine at Lenox Hill Hospital in New York City. He said, “Sleep apnea is a very common disease, about as common as diabetes, and similar to diabetes is associated with increased risk for cardiovascular events, such as stroke and heart disease.”

He added that “CPAP works, but is a difficult treatment.”

Feinsilver said that surgery that could provide a permanent cure has long been the goal for treatment.

“This study shows that relatively minor surgery, performed in a standardized fashion by skilled surgeons, can significantly improve sleep apnea compared to ‘medical treatment’ (essentially no treatment),” he said.

But he noted that even though people reported improvement, their nighttime breathing wasn’t back in the normal range.

“This is certainly a major improvement, but it remains unclear whether outcomes (such as cardiovascular risk) will be significantly impacted,” Feinsilver said. Also, he suggested that this multilevel surgery may only be an option for a select group of patients.

The report was published online Sept. 4 in the Journal of the American Medical Association.

More information

Learn more about sleep apnea treatments from the U.S. National Heart, Lung, and Blood Institute.

Copyright 2020 HealthDay. All rights reserved.



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