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Health24.com | Gene test might someday gauge your cardiac arrest risk
Sudden cardiac death is terrifying because it’s exactly that – one minute you’re fine and the next you’re facing death, with no warning and no prior symptoms.
Now, new research shows the secret to who’s at risk for cardiac arrest and who isn’t could lie in people’s genes. And a gene test might someday help predict who’s most endangered, according to a study presented this weekend at the American Heart Association’s annual meeting in Philadelphia.
Important mutations
Researchers said they have identified a group of 14 gene variants that appear to be linked to sudden cardiac death.
People carrying any of these variants had a more than triple the risk of dying from cardiac arrest, said lead researcher Dr Amit Khera. He’s associate director of the Precision Medicine Unit at Massachusetts General Hospital’s Center for Genomic Medicine.
“This really lays the groundwork to say these are important mutations, and what’s exciting is if we can identify them, we have treatments for the conditions to which they are tied,” Khera explained. “My goal now is to use genetic variation as a tool to empower people to overcome whatever risk they might have been born with.”
Sudden cardiac arrest is responsible for 325 000 adult deaths in the United States each year – about half of all heart disease deaths, the Cleveland Clinic says. It strikes most often in adults in their mid-30s to mid-40s, and affects men twice as often as women.
There are four major reasons a person might fall prey to sudden cardiac death, Khera said: a weakened heart muscle, a heart attack, an abnormal heart rhythm, or a dilation or tear in the aorta (the main artery leading out from the heart).
“We know each of these diseases tends to run in families and there are genetic variants that cause each of these conditions,” Khera said.
Genetic sequencing
To find out more, his team pulled together data on 600 people who’d been felled by sudden cardiac death and matched them against 600 “controls” who hadn’t.
They then performed genetic sequencing on the entire pool of 1 200 people to look for genes previously linked to heart or blood vessel disease, with no knowledge of which were victims of sudden cardiac death.
The researchers found 15 people who carried at least one of 14 different genetic mutations tied to heart health. After that, they took a step back to see which of the people had died of sudden cardiac death and which were controls.
“All 15 of these people had actually dropped dead [of cardiac arrest],” Khera said. “Zero of them were in the controls.”
As a next step, the researchers tracked a group of more than 4 500 healthy people for a median 14 years, to see whether those who carried one of these genetic variants would fall from sudden cardiac death.
The team identified 41 people – about 1% – as carrying one of these disease-causing genetic variants.
“We were able to show that from 2002 to 2017, they were at more than triple the risk for dying from sudden cardiac arrest,” Khera said.
Genetic screening in doctor’s office
Khera’s hope is that one day doctors will use these genes to screen for folks with hidden heart risk, and then treat them to lower the risk using therapies and drugs.
He’s already started this work, digging through Massachusetts General Hospital’s biobank of 100 000 patients to look for people carrying one of the 14 variants.
“We’ve already started calling them back, saying you have these variants, do you want to learn about it?” Khera said.
Still, Khera thinks it’s five to 10 years from the point where people could receive such genetic screening in their doctors office.
Dr Kim Eagle, a cardiologist with the University of Michigan Medicine, said such a test could be even further off.
“I think you have to view this as preliminary,” he said of the new study. “Clearly, we’re still grappling with the challenge of taking the human genome and what we know about it and applying it to day-to-day practice in a cost-effective method.”
Danger of false positives
There’s still so much unknown about genetic variants that they are easy to find but hard to judge, Eagle said.
“If you talk about screening the general population for rare but potentially important genetic defects, you’re going to find a lot of people that have a variant but you don’t know how important it is,” he said.
A test could result in a lot of false-positive results that scare patients to no good purpose, Eagle believes.
He shared the story of a male patient who’d frequently asked him for a genetic screen to find his potential risk factors. When Eagle demurred, the patient took the initiative to get a genetic screening from one of the new companies that have sprung up to provide this service.
He came back to Eagle very upset, pointing out that they found a couple of genes with important variants that could really affect his health.
“I said, ‘You know what’s really interesting? Both of these genes identify diseases that only happen in women,'” Eagle said. “Here’s an example of the result of a false-positive – a guy who doesn’t understand, who’s scared to death that he’s got a rare genetic disorder, and it only happens in women.”
The study was also published in the Journal of the American College of Cardiology.
Image credit: iStock
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Health24.com | It’s not abnormal to poop during sex – but don’t let it happen to you
You probably thought ‘she-pooped-during-sex’ stories were urban legends. But as it turns out, the human body actually is that evil. “It can happen, and it’s not abnormal,” says sex therapist Dr Lisa Lawless, founder of Holisticwisdom.com.
Here’s how that works: If you have a massive orgasm (woo!) and bear down, poop can slip out, kind of like childbirth, says Lawless.
That being said, just because it’s “not abnormal” that doesn’t mean it’s common — you’re actually much more likely to fart in this scenario, says Lawless. So, that’s kind of comforting?
Another factor in the orgasm-poop connection are hormone-like compounds called prostaglandins, says gynaecologist Dr Diana Hoppe, author of Healthy Sex Drive, Healthy You. When you orgasm, your body releases those compounds, causing the uterus to contract and increase blood flow to your lower pelvis. This is great for lubrication, but makes it tough to hold your pee or poop, she says.
“This can lead to unwanted loss of urine and or stool,” says Hoppe. Um, yeah, “unwanted” might be an understatement.
If this happens to you, it’s important to keep your chill.
READ MORE: This Is What Happens To Your Body When You Hold In Your Poop
“If you feel awkward and bad, your partner’s going to feel awkward and bad,” says Lawless. Your move: Muster up some self-confidence, laugh it off, and explain that you were so turned on you lost control, she says. (Then send him out for late-night fro-yo while you change the sheets and, um, shower.)
And to reduce the risk of this ever happening, get your kegel on. These exercises help tighten the pelvic floor, so you can control your bladder and bowels. Another helpful hint: Empty your tank before sex, says Lawless. More preparation = less poop.
This article was originally published on www.womenshealthsa.co.za
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Health24.com | High blood pressure during pregnancy tied to future heart risks
Pregnancy-related high blood pressure puts women at higher risk of heart disease later on, new research suggests.
In the study, researchers analysed an average of seven years of follow-up data on more than 220 000 women in the United Kingdom. Those who had gestational high blood pressure or preeclampsia in at least one pregnancy had stiffer arteries, and two to five times the rate of chronic high blood pressure later on, the findings showed.
Chronic high blood pressure
These women were more likely to develop heart problems, including coronary artery disease, heart failure and valve disease, according to the report published online in the Journal of the American College of Cardiology.
Up to half the risk was driven by chronic high blood pressure, the investigators found. That “implies that treating high blood pressure may be especially important in this population,” said study lead author Dr Michael Honigberg. He’s a cardiologist at Massachusetts General Hospital in Boston.
Future research could assess new ways of treating high blood pressure (“hypertension”) or simply treating it more aggressively in women who have had it at least once during pregnancy, Honigberg suggested.
“Research over the past decade has shown there are sex-specific risk factors for cardiovascular disease among women,” Honigberg said in a hospital news release. “But there were still some significant gaps in our understanding of those risks, and one gap is whether the elevated risk persists long-term after a hypertensive pregnancy, or whether other women ‘catch up’ as cardiovascular risk increases with age in the population overall.”
Asking about women’s history
Doctors are still figuring out how to predict and prevent high blood pressure problems during pregnancy, he noted. “But what we can do is look ahead and try to mitigate the risk of these women developing cardiovascular disease later in life,” Honigberg said.
That includes heart-healthy lifestyle changes such as exercise, eating a healthy diet, not smoking and controlling weight. Some women may also benefit from medication, he explained.
“You’d be shocked at how few physicians who aren’t obstetrician/gynaecologists – including cardiologists – ask their female patients if they’ve had a hypertensive disorder of pregnancy,” Honigberg said. “This research really underscores the importance of clinicians asking about this history, and of women sharing it.”
Image credit: iStock
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Health24.com | How do we recognise familiar songs almost instantaneously?
It happens to everyone: A familiar song comes on the radio, and suddenly you recall every note and every word.
Now, new research has pinpointed exactly how long it takes people to recognise that favourite tune – just 0.1 to 0.3 seconds.
Song recognition revealed by pupil dilation
The study included five men and five women who each provided a list of five familiar songs that they associated with good memories.
The researchers then chose one of each participants’ songs and matched it with a song that was similar in tempo, melody, harmony, vocals and instrumentation, but was unfamiliar to the participant.
Each participant was randomly played 100 snippets (each less than a second) of both the familiar and unfamiliar song. The researchers monitored the participants’ electrical activity in the brain and their pupil diameter (a measure of arousal) while they listed to the song snippets.
Song recognition was first revealed by pupil dilation likely associated with increased arousal triggered by the familiar song, followed by brain activity related to memory retrieval, according to the study published online in the journal Scientific Reports.
A “control group” of people unfamiliar with any of the songs used in the study had no differences in responses to any of the songs, said the researchers at the University College London Ear Institute.
Therapeutic interventions
“Our results demonstrate that recognition of familiar music happens remarkably quickly,” study senior author Maria Chait said in a school news release.
“These findings point to very fast temporal circuitry and are consistent with the deep hold that highly familiar pieces of music have on our memory,” Chait added.
“Beyond basic science, understanding how the brain recognises familiar tunes is useful for various music-based therapeutic interventions,” she said.
“For instance, there is a growing interest in exploiting music to break through to dementia patients for whom memory of music appears well-preserved despite an otherwise systemic failure of memory systems,” Chait explained.
“Pinpointing the neural pathway and processes which support music identification may provide a clue to understanding the basis of this phenomenon,” Chait concluded.
Image credit: iStock
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Health24.com | How sleep deprivation dangerously drains the brain
If you feel like you can’t think straight after a sleepless night, new research suggests you are not imagining things.
The mental impacts of sleep deprivation are much more serious than previously believed, the study found.
Costly errors
“Our research showed that sleep deprivation doubles the odds of making placekeeping errors and triples the number of lapses in attention, which is startling,” said study author Kimberly Fenn. She directs the Sleep and Learning Lab at Michigan State University.
The researchers describe placekeeping as following several steps to complete a task, despite interruptions.
“Sleep-deprived individuals need to exercise caution in absolutely everything that they do, and simply can’t trust that they won’t make costly errors. Oftentimes – like when behind the wheel of a car – these errors can have tragic consequences,” Fenn said in a university news release.
In the study, 77 people stayed awake all night and 61 slept at home. Their ability to do two types of mental tasks were assessed in the evening and again the next morning.
One test assessed their reaction time to a stimulus and the other measured their placekeeping ability.
“After being interrupted there was a 15% error rate in the evening and we saw that the error rate spiked to about 30% for the sleep-deprived group the following morning,” said co-author Michelle Stepan, a doctoral candidate at Michigan State. “The rested participants’ morning scores were similar to the night before.”
Widespread deficits
The researchers said this study is one of the largest of its kind and the first to assess how sleep deprivation impacts placekeeping.
“Our findings debunk a common theory that suggests that attention is the only cognitive function affected by sleep deprivation,” Stepan said in the release.
“Some sleep-deprived people might be able to hold it together under routine tasks, like a doctor taking a patient’s vitals,” she noted. “But our results suggest that completing an activity that requires following multiple steps, such as a doctor completing a medical procedure, is much riskier under conditions of sleep deprivation.”
There are some tasks people can do on auto-pilot that may not be affected by a lack of sleep, but “sleep deprivation causes widespread deficits across all facets of life,” Fenn said.
The study was published online in the Journal of Experimental Psychology: General.
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