Health

My dwarfism

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The Without Limits group (l-r): Andy Slade, Louise Halvey, Steve Brown, Mary Russell, Vicky Balch, Charlie Lewis

Mary Russell, a black woman with dwarfism, set off on a 21-day, 900-mile trip down the Ho Chi Minh trail with five other disabled people. She imagined it would be a unifying experience, but in fact she felt isolated among people she thought would be more like her.

“What made it for me was the beautiful scenic views,” she says. “How can you be miserable when you’re looking at mountains?”

But in fact, for some of the time at least, Russell would feel more isolated and different than she had done before as she filmed for the BBC One programme, Without Limits: Vietnam.

Russell is used to her difference. She grew up as one of nine children, but the only one with achondroplasia – a common cause of dwarfism – and her skin-colour could also cause issue in 1970s Yorkshire when “awareness just wasn’t there”.

For the journey through Vietnam, Russell, 48, travelled in a vehicle with Vicky Balch, who lost her leg in the Alton Towers rollercoaster accident and Steve Brown, a Paralympic wheelchair rugby player who’s paralysed from the chest down.

Image copyrightMary Russell

Louise Halvey, who has progressive hearing loss, travelled on a motorbike alongside Charlie Lewis, who opted for a right leg amputation after a snowboard accident, and Andy Slade who lost an arm in an industrial accident.

But there was a new kind of difference here – Russell was the only one of the six to have always had a disability rather than having acquired it later in life.

“The group had all gone through something quite traumatic and I had to try to figure out where I fit in with that,” she says.

The rest of the group were able to talk together about how they became disabled by accident or illness and how it made them feel but Mary felt left out because she had never had that experience.

“It was hard because they weren’t born this way, they lived most of their life mingling with society, and at times I felt like I needed a limb missing so I could feel part of the group.”

The team travelled from the north to the south of the country and spent up to seven hours a day in the car, which she describes as “really rough”.

As the others bonded over coming to terms with a new impairment, Russell became affected by what she acknowledges as her main disability – depression.

“My mood dipped almost immediately,” she says.

The atmosphere in the car soured at times and arguments broke out. The group were often short on sleep and the travelling could be uncomfortable.

“I’ve struggled with depression, which nobody really understands because they automatically think it’s the dwarfism that holds me back, but at times, mental health is my biggest challenge.”

Russell says she identified the slump in her mood early on in the journey when she “felt like I was going out of control”.

She became fractious and tearful and with no one to confide in she told the whole group how she felt.

“I didn’t want people to think this was how I usually am,” she says. “They said they were completely unaware I felt isolated but were grateful I had spoken and they became more inclusive.”

At home in London, Russell uses cycling as a “remedy” for her depression and when the group visited a village they spotted a boy with a bike. He was persuaded to lend it to her and she free-wheeled down the hill which gave her some relief.

Russell says the group provoked intrigue wherever they went, but she felt she received a “double stare”.

“I stood out for sure,” she says. “I have the condition and I’m of colour.”

Mary’s short stature often prompted laughter from Vietnamese locals which she found overwhelming at times.

“For some reason dwarfism as a disability always seems to be the butt of jokes and when they saw me they wanted to laugh, which is the battle we always have.

“They wouldn’t touch me … but people were fascinated by the others and wanted to touch their prosthetic legs.”

But there was an unexpected moment of joy one day which made Russell confront her own judgements.

“I met a guy, a dwarf, when we went shopping. He was stood outside his shop and at first I walked on by.

“For a moment I slipped into ‘old Mary’ where I wasn’t comfortable with seeing someone like myself, but I made myself go back and say ‘hello’ to him.

Image copyrightMary Russell

“I immediately connected with him, we shook hands and hugged. It was the highlight of my trip.”

The group all completed the journey, weary but fulfilled. Russell remains close to Halvey and Slade who made her see her own prejudices.

“They helped me and gave me support,” she says. “They’re both bikers so I didn’t think I’d get on with them, but we hit it off and it made me realise you really can’t judge anyone.”

Russell has taken part in reality TV before – in 2014 she appeared on the disability dating show, The Undateables.

The positive response she got from that boosted her confidence and she was signed to model agency, Models of Diversity, which has led to numerous photo-shoots and a fashion runway in Japan.

Image copyrightMary Russell

“From The Undateables onwards I started to find out things about myself – positive and negative,” she says. “Even if it upsets me I’m emptying out all the hurt and developing as a person.”

Though the Vietnam trip brought unwanted attention to her differences, Russell says it has made her accept herself in a new way.

“It made me realise that my limbs might be shorter, but they’re functional and I can use them and should be grateful.

“I want to go to more places where there are less people like me. Everyone needs to see that this is what’s in the world.”

Mary Russell’s roadtrip story is told on Without Limits: Vietnam. The second episode will be broadcast Thursday 21 September at 20:00 on BBC One, and will be available to watch via BBC iPlayer for 30 days afterwards.

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One Weight-Loss Surgery Shows Lasting Results

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WEDNESDAY, Sept. 20, 2017 (HealthDay News) — Obesity surgery can have long-lasting effects on weight and the risk of developing type 2 diabetes and high blood pressure, a new study finds.

Doctors have known that a type of obesity surgery, called gastric bypass, works in the short-term. Patients typically lose a lot of weight, and obesity-related health problems can be prevented or even cured.

But the new findings show that the benefits are still apparent 12 years later.

The study, of more than 1,100 severely obese adults, found that those who underwent gastric bypass lost an average of 100 pounds over two years. By year 12, they’d managed to keep 77 of those pounds off.

On top of the weight loss, surgery patients had a much lower risk of developing type 2 diabetes — 92 percent lower, versus obese patients who did not have surgery.

“This is very effective at diabetes prevention,” said lead researcher Ted Adams, a professor at the University of Utah School of Medicine.

The surgery can also reverse existing diabetes. At year 12, half of patients who’d had type 2 diabetes before surgery were in remission, according to the study.

Still, Adams said, gastric bypass has risks, and it’s considered a last resort after other weight-loss attempts have failed.

So candidates for the surgery should go in fully informed of the pros and cons, Adams said.

An obesity specialist who was not involved in the study agreed.

“It does take a lot of hard work before and after surgery. And this is not a cure-all for diabetes,” said Dr. Scott Isaacs, medical director of Atlanta Endocrine Associates.

The hard work includes a lifelong commitment to diet and exercise changes. So the surgery itself is no “magic bullet,” said Isaacs, who is a spokesperson for the Obesity Society.

That said, he called the news findings “really clear-cut.”

“It’s one of the best studies we’ve had done to date,” Isaacs said. “And it shows that this is a safe, effective surgery with durable results.”

The study, funded by the U.S. National Institutes of Health (NIH), involved 1,156 severely obese adults.

In all, 418 underwent gastric bypass, while the rest either did not seek surgery or considered it but did not go through with it — mostly for insurance reasons.

During gastric bypass, a surgeon staples the stomach to create a “pouch” that can hold only a small amount of food at a time. Then a passage is created from the pouch to the middle of the small intestine — limiting the body’s absorption of nutrients.

In general, Isaacs said, the surgery is reserved for people with a body mass index (BMI) of at least 40 — meaning they’re around 100 pounds or more overweight. It may also be recommended for people who have a BMI of 35-plus and health conditions such as diabetes or heart disease.

There are risks from the surgery itself, including blood clots, infections and bleeding, according to the NIH.

“It’s a major surgery,” Adams said, “and you can’t reverse it.”

The risk of death, he added, is low — on par with hip replacement surgery — but it’s a possibility.

After surgery, Isaacs said, there’s a risk of nutrient deficiencies, so patients need to take prescribed supplements.

All of that has to be weighed against the potential benefits, Adams said.

Of surgery patients in his study, 3 percent developed diabetes over the next dozen years. That compared with 26 percent of nonsurgery patients.

Similarly, 16 percent developed high blood pressure, versus more than 40 percent of other patients.

Of patients who’d had diabetes before surgery, 75 percent went into remission by year two. That waned to 51 percent by year 12.

Still, Adams said, the long-term remission rate is “pretty remarkable.”

There was one concerning finding — one that past studies have uncovered, too. Seven study patients died by suicide after having surgery.

It’s not clear why, Adams said. But patients in the surgery group did tend to report a poorer quality of life before having the procedure, he said, versus people who did not opt for surgery.

It’s possible, Adams speculated, that for certain people, the surgery did not improve their life to the degree they’d hoped.

Also, Isaacs noted that research suggests the surgery may change the way alcohol is metabolized — and potentially contribute to drinking problems in certain people.

The study findings were published in the Sept. 21 issue of the New England Journal of Medicine.

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Drone Sets New Record for Transporting Blood Samples

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TUESDAY, Sept. 19, 2017 (HealthDay News) — A new distance record for delivery of blood samples by a medical drone has been set.

A Johns Hopkins University drone transported dozens of human blood samples across 161 miles of Arizona desert. Throughout the three-hour flight, proper temperature control was maintained and the samples were usable for laboratory testing after reaching their destination.

“We expect that in many cases, drone transport will be the quickest, safest and most efficient option to deliver some biological samples to a laboratory from rural or urban settings,” senior study author Dr. Timothy Amukele said in a university news release. Amukele is an assistant professor of pathology at Johns Hopkins.

He noted that drones can operate where there are no roads and overcome obstacles to timely diagnosis and care.

“Drones are likely to be the 21st century’s best medical sample delivery system,” Amukele said.

The findings were published recently in the American Journal of Clinical Pathology.

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Court ruling not needed to withdraw care, judge says

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Person being treated in hospitalImage copyrightGetty Images

Legal permission will no longer be required to end care for patients in a permanent vegetative state, a judge has ruled.

Until now, even if medics and relatives agree to withdraw nutrition from a patient, a judge must also consent.

But a landmark decision by Mr Justice Jackson means those cases will no longer have to come to court.

The official solicitor, appointed by the state to act for such patients, is likely to appeal against the ruling.

Doctors are able to withdraw treatment from a patient – if relatives consent – under various circumstances without needing court approval, for example, when a “do not resuscitate” order is made.

However, removing sustenance from an individual in a vegetative or minimally conscious state has been treated differently.

For nearly 25 years, these decisions have been referred to the Court of Protection, even where doctors and families agree.

That followed the House of Lords ruling on Tony Bland, who was left severely brain damaged after the Hillsborough disaster in 1989 and died nearly four years later.

Wednesday’s ruling removes this exception and paves the way for a change in the way such cases are handled by hospitals.


Analysis: Clive Coleman, BBC legal affairs correspondent

So long as relatives agree, and it’s in the best interests of a patient in a minimally conscious or vegetative state, doctors can withdraw all sorts of treatment that will result in the end of someone’s life. These include, for instance, the withdrawal of life-saving dialysis. Doctors do not need the permission of a court to be able to do this.

However, withdrawing food and water – the most basic requirements for life – has been handled differently, and for many years has needed the approval of a court. It’s been treated as an exception, in part, perhaps, because of the emotional and psychological significance of the decision to remove sustenance from a person.

This has resulted, some experts believe, in individuals spending longer on life support in a vegetative state than was necessary because hospitals have shied away from going to court due to the expense and bureaucracy involved.

Today’s ruling makes clear that as things stand, courts need not be involved in these sorts of cases, so long as doctors and families are in agreement, and the removal of food and water are in the best interests of the patient.


Mr Justice Jackson made his ruling in a case concerning a 50-year-old woman who suffered from a degenerative illness for 14 years.

The patient, known in court as M, had Huntingdon’s disease and was bed-ridden in hospital and fed by a tube.

She had shown no sign of awareness for 18 months, the court heard.

Mr Justice Jackson agreed with her family and doctors that withdrawing nutrition from her would be in her best interests.

The tube was removed and she died in August.

Mr Justice Jackson said in his view the case should not have come to court.

‘Helpful step’

“The decision about what was in M’s best interests is one that could lawfully have been taken by her treating doctors, having fully consulted her family and having acted in accordance with the MCA (Mental Capacity Act) and with recognised medical standards,” the judgement said.

Mr Justice Jackson said that even in M’s case – when family and doctors agreed – legal costs reached £30,000.

Sarah Wootton, chief executive of the campaign group Compassion in Dying, said the ruling was “a helpful step towards a clearer, more person-centred view of end-of-life care”.

“When all parties – family, the hospital and treating doctors – are agreed on what someone would have wanted for their care, it seems absurd to require a costly court process to confirm this.”

Research by the BBC established last year that there were more than 100 patients in England and Wales in permanent vegetative or minimally conscious states.

One patient had been in this condition for more than 20 years.

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High, Low Levels of Magnesium Linked to Dementia Risk

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WEDNESDAY, Sept. 20, 2017 (HealthDay News) — Having magnesium levels that are too high or too low may put you at risk for Alzheimer’s and other dementias, Dutch researchers report.

In a study of more than 9,500 men and women, the highest or lowest levels of magnesium appeared to increase the chances for dementia by as much as 30 percent.

“At this moment, magnesium levels are not routinely measured in daily clinical practice,” said lead researcher Dr. Brenda Kieboom, of Erasmus University Medical Center in Rotterdam. “If our study results are replicated, magnesium levels could be used to screen for dementia, especially in people at risk for low magnesium levels.”

But she cautioned that “we cannot prove that low or high magnesium causes dementia on the basis of our data. For that, we need studies to see if supplements will reduce the risk.”

Kieboom said she also wants to study whether low magnesium levels also associate with a decline in mental function over time.

“Mental function can be seen as a precursor stage of dementia, and if we find similar associations with dementia this will support our theory for a causal association,” she said.

“We already found that proton pump inhibitors [acid reflux drugs such as Nexium and Prilosec] are associated with a higher risk for abnormally low magnesium levels, but we continue looking into other drugs,” she said.

Those at risk for low levels of magnesium include people who use proton pump inhibitors or diuretics, or people who have a diet low in magnesium, Kieboom said.

Foods that are good sources of magnesium include spinach, almonds, cashews, soy and black beans, whole grains, yogurt and avocados, she said.

The report was published online Sept. 20 in the journal Neurology.

For the study, Kieboom and colleagues collected data on 9,569 people, average age 65, who took part in the Rotterdam Study and who didn’t have dementia. Participants had their blood levels of magnesium tested.

Over an average of eight years of follow-up, 823 participants developed dementia. Of those, 662 were diagnosed with Alzheimer’s disease.

The researchers divided the participants into five groups based on their magnesium levels.

Those with the highest and the lowest levels of magnesium had an increased risk of dementia, compared with those in the middle groups, the researchers found.

Of the nearly 1,800 people in the low magnesium group, 160 developed dementia, as did nearly 180 in the high magnesium group.

Among the nearly 1,400 whose magnesium levels fell in between the highest and lowest levels, 102 developed dementia.

The findings held even after the researchers took into account other factors that could affect the risk for dementia. These included weight, smoking, alcohol use and kidney function.

Kieboom said that the study results have limitations, including that magnesium levels were measured only once, so they could have changed, and magnesium levels in the blood do not always show the total level of magnesium in the body.

One U.S. expert expressed caution over the findings.

“In general, I would worry most about low magnesium in the malnourished, for example, those suffering from alcoholism or starvation, and not so much in the general well-nourished population,” said Dr. Sam Gandy. He’s director of the Center for Cognitive Health at Mount Sinai Hospital in New York City.

Gandy, however, isn’t convinced by this study alone that magnesium levels boost the risk for dementia.

“I am willing to be persuaded otherwise if several independent studies turn up magnesium disturbances related to dementia diagnoses,” he said.

“But as someone who lived through the 1970s ‘Throw away your pots and pans and antiperspirants’ purge [from the belief that aluminum is linked to Alzheimer’s], I would like to see more and larger independent studies before getting married to the idea,” Gandy said.

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When Moms Don’t Sleep Well, Neither Do Their Kids

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WEDNESDAY, Sept. 20, 2017 (HealthDay News) — If mom is an insomniac, her kids are likely to be poor sleepers, too.

New research finds that children whose mothers have trouble sleeping fall asleep later, don’t stay asleep as long and spend less time in deep slumber.

“These findings are important because sleep in childhood is essential for well-being and development,” said study leader Sakari Lemola, an assistant professor of psychology at the University of Warwick in England.

Poor sleep could take a toll on kids’ mental and physical health and cause trouble with memory, learning and overall school performance, researchers said.

For the study, Lemola’s team used in-home electroencephalography (EEG) to assess the sleep quality of nearly 200 children ages 7 to 12 and that of their parents.

This test records electrical activity in the brain, allowing researchers to pinpoint various stages of sleep. Parents also reported on their own sleep and that of their kids.

The study found an association between mothers’ insomnia and poor sleep among their kids. In these cases, parents reported kids had problems getting into bed and weren’t getting enough sleep.

Researchers found no such link between fathers and their kids. They theorize that children may be more strongly influenced by their mother because they typically tend to spend more time together.

“The findings show that children’s sleep has to be considered in the family context,” Lemola said in a university news release. “In particular, the mother’s sleep appears to be important for how well school-aged children sleep.”

When it comes to sleep habits, kids learn from their parents, the researchers explained. They also share their parents’ DNA and may have a similar tendency to have trouble sleeping, the investigators noted.

Family discord, or fighting, could also prevent parents and children from sleeping well, the authors cautioned. They added that parents who suffer from insomnia might not notice or intervene effectively if their child is not getting enough sleep.

In adulthood, 30 percent of people have disturbed sleep.

The study was published in the October issue of Sleep Medicine.

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Will an E-Cigarette Harm Your Heart?

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WEDNESDAY, Sept. 20, 2017 (HealthDay News) — The nicotine in e-cigarette vapor may cause adrenaline levels to spike in the heart, potentially increasing risk of heart attack and sudden cardiac death, a new study reports.

Electronic cigarettes have been promoted as a healthier alternative to tobacco cigarettes because they deliver vastly lower levels of carcinogens, researchers say.

But laboratory studies show that e-cigarettes still could pose a threat to health because of the nicotine that the devices typically deliver, said lead researcher Dr. Holly Middlekauff. She’s a cardiologist with the David Geffen School of Medicine at the University of California, Los Angeles.

Nicotine-containing e-cigarettes appear to promote a fight-or-flight response by the sympathetic nervous system, causing a release of adrenaline that increases heart rate and reduces the amount of time between heart beats, researchers found.

“The concern is that extended use of nicotine is going to expose you to long-term high adrenaline levels in the heart,” Middlekauff said. “That has been shown to be a risk factor for heart attack.”

Previous studies have linked e-cigarettes to abnormal heart rate variability, or the time interval between heart beats, Middlekauff said. However, researchers weren’t sure whether this was caused by nicotine in e-cigarettes or other chemicals contained in the vapor.

To figure this out, Middlekauff and her team recruited 33 healthy adults who do not smoke to use either e-cigarettes or tobacco cigarettes.

Participants went to the lab three times, performing a regimented 60 puffs over 30 minutes. But the device they used changed each time — a typical e-cigarette containing nicotine one time, a nicotine-free e-cigarette at another visit, and a “sham” e-cigarette containing no liquid another time.

“Only after using the e-cigarette with nicotine did we see this abnormal pattern associated with high adrenaline levels in the heart,” Middlekauff said.

The nicotine-delivering e-cigarette created a significant 20 percent shift in heart rate variability and a 10 percent increase in heart rate, Middlekauff said.

According to Aruni Bhatnagar, an American Heart Association spokesman, that finding is “an indicator there might be some adverse effects with the use of e-cigarettes. Rapid and persistent increases in heart rate and blood pressure cannot be good for you in any scenario.” Bhatnagar is a professor at the University of Louisville School of Medicine in Kentucky.

Gregory Conley, president of the American Vaping Association, disagreed with this assessment, arguing that the researchers overstated their findings.

“Past studies have shown that eating meals high in carbohydrates induces heart rate variability. Are we going to be warning people away from corn flakes?” Conley said. “This is weak, inconsequential science produced by researchers who appear desperate to generate headlines.”

Based on the results, Middlekauff said, current tobacco cigarette smokers still would be better off switching to e-cigarettes. They would avoid the carcinogens produced by burning tobacco, even though they could face heart health effects from nicotine.

At the same time, there’s now evidence that e-cigarettes could pose a health risk to people who have never smoked tobacco because of the nicotine they contain, Middlekauff added.

“If you don’t smoke at all, I would strongly recommend against using electronic cigarettes, because they’re not harmless,” she said.

The study was published Sept. 20 in the Journal of the American Heart Association.

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Fighting HIV on Multiple Fronts Might Lead to Vaccine

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WEDNESDAY, Sept. 20, 2017 (HealthDay News) — A combination antibody strategy could be the key to halting the spread of HIV, according to results from two promising animal studies.

Two separate research groups completely protected their own sets of lab monkeys from HIV infection using this combination vaccination strategy, albeit in two very different ways.

One group inoculated their monkeys with a “cocktail” of two HIV antibodies, while the other group genetically engineered a single antibody capable of attacking HIV in three different ways.

There’s just one downside: Because these antibodies are injected into the body rather than naturally created by the immune system, people will have to receive shots on a regular basis to retain their protection against the AIDS-causing virus.

The strategy focuses on broadly neutralizing HIV antibodies, a type of antibody that attaches to the virus and prevents it from entering the immune cells that it targets, said Dr. Gary Nabel, chief scientific officer of the pharmaceutical firm Sanofi.

Previous studies have investigated using individual antibodies to block HIV, but without success, said Rowena Johnston, vice president and director of research for amfAR, the Foundation for AIDS Research.

“The virus is just so good at mutating away from any single thing we throw at it,” Johnston said. “When we treat HIV, you can’t give a single antiretroviral drug. You have to give a combination of at least two and optimally three. They are now also looking at this idea for antibodies.”

Researchers also are looking into “passive immunization” as a way to deliver these protective antibodies, as an alternative to traditional vaccination, Johnston said. The human immune system has not been capable of learning a vaccine-prompted immune response that provides continued protection against rapidly mutating HIV.

“With a vaccine, you’re upping the ante in terms of complexity because you’re asking the immune system to design the antibodies you want,” she said. “With passive immunization, you simply administer those antibodies and you don’t need to ask the immune system to develop them.”

One research team tested this new strategy by injecting lab monkeys with two antibodies that block HIV by attaching to different targets located on the virus.

The researchers then tested the cocktail’s effectiveness by exposing the monkeys to two strains of HIV. Each was vulnerable to one of the antibodies, but not the other.

Monkeys that received either of the antibodies individually became infected when exposed to both strains of HIV, researchers reported. However, when they received the two-antibody cocktail, they were protected against both HIV strains.

“If the virus has resistance mutations to one of the antibodies, then you really need more than one to protect,” said lead researcher Dan Barouch, director of the Center for Virology and Vaccine Research at Beth Israel Deaconess Medical Center in Boston.

Researchers from the other team took things a step further: They genetically designed a single antibody that acts as three antibodies, attacking three separate targets on HIV.

“The problem is if you take any one antibody and you use that as your umbrella to protect against infection, the virus is going to find a way to poke a hole in your umbrella and leak through and become resistant to that antibody,” said Nabel, lead researcher for the effort.

“We’ve actually said, okay, if you poke a hole in my umbrella, I’m going to have two layers beneath it. If a virus gets through, it’s going to be really unlikely to get through the second layer, and even if they get through that, there’s still a third layer,” Nabel continued.

All monkeys given the triple combination from the single antibody were fully protected from the virus, researchers reported.

Unfortunately, all these antibodies provide fleeting protection because they eventually die off and are not naturally replaced by the immune system.

“If you were going to use these in clinical practice to prevent HIV infection, you would have to repeatedly administer them,” perhaps as often as every several weeks, Johnston said.

Efforts are underway to extend the life span of these antibodies, so they could provide several months of protection, Barouch said.

Barouch said his team is launching human clinical trials for its cocktail approach. Nabel’s team is also working toward human trials.

Often, however, results of animal trials aren’t replicated in human studies.

The studies were published Sept. 20 in the journals Science and Science Translational Medicine.

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UK scientists edit DNA of human embryos

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Embryo genetically modifiedImage copyrightKathy Niakan
Image caption The genetic machinery needed to modify the DNA is injected into the embryo

The blueprint for life – DNA – has been altered in human embryos for the first time in the UK.

The team at the Francis Crick Institute are unravelling the mysteries of the earliest moments of life.

Understanding what happens after a sperm fertilises an egg could lead to ways of improving IVF or explain why some women miscarry.

The embryos were modified shortly after fertilisation and allowed to develop for seven days.

The researchers are exploring one of the most astounding of transformations.

We have all journeyed from a single fertilised egg to a human being – built from myriad different tissues ranging from bone to those needed to read this page.

The first few steps on that journey are as critical as they are poorly understood.

Image copyrightKathy Niakan
Image caption The embryo divides and develops from a single fertilised egg (top left) to a blastocyst (bottom right)

Breakthroughs in manipulating DNA have allowed the team at the Crick to turn off a gene – a genetic instruction – suspected to be of vital importance.

The easiest way of working out how something works is to remove it and see what happens.

So the researchers used the gene-editing tool Crispr-Cas9 to scour the billions of letters of genetic code, find their genetic target and break the DNA to effectively disable it.

They were targeting a gene. You are unlikely to have heard of it, but OCT4 is a superstar in early embryo development.

Its complete role is not understood but it acts like an army general issuing commands to keep development on track.

The researchers used 41 embryos that had been donated by couples who no longer needed them for IVF.

After performing the genetic modification, the team could watch how the embryos developed without OCT4.

Media playback is unsupported on your device
Media captionIn a first for UK scientists, human embryos have been genetically modified.

Over the course of the first seven days, a healthy, normal embryo goes from one cell to about 200. It also goes through the first steps of organising itself and handing out specialised jobs to different cells.

The embryo forms a hollow sphere called a blastocyst, with some cells destined to go on to form the placenta, some the yolk sac and others, ultimately, us.

But without OCT4 the blastocyst cannot form. It tries – but implodes in on itself.

From the embryo’s perspective it is a disaster but for scientists it has given unprecedented insight.

Image copyrightKathy Niakan
Image caption The cells coloured green in the blastocyst have high levels of OCT4 and are the ones that go on to form the human body

It is the first time human embryos have been edited to answer questions about fundamental biology.

Dr Kathy Niakan, a group leader at the Crick in London, told the BBC: “When it seemed it was working we were quite excited about the possibility that this would open up.

“This is basic research which is providing us with a foundation of knowledge about early human development.”

By deepening understanding of the earliest moments in life, it could help explain what goes wrong in infertility.

During IVF, of 100 fertilised eggs, fewer than 50 reach the blastocyst stage, 25 implant into the womb and only 13 develop beyond three months.

This study alone, published in the journal Nature, cannot explain what is going wrong or why some women miscarry.

But by interrogating all the genes suspected of playing a role in our inception, it could lead to new advances.

Image copyrightcrick institute
Image caption Dr Kathy Niakan in the Crick laboratories where the embryos were modified

Dr Niakan told the BBC: “If we knew the key genes for an embryo to develop successfully that would, I would hope in the future, lead to improvements in IVF technology and give us really important insights into why some pregnancies fail.”

One option for IVF is to have a better way of testing which embryos are going to be successful.

Or it may be possible to boost embryos during IVF by growing them in a different culture media – a fertiliser for fertilised eggs.

Ethical debate

These experiments have been legal since 2008 in the UK, where it is possible to manipulate such embryos for 14 days as long as they are not implanted.

But while this application of the technology is answering fundamental questions of science, other research groups are trying to remove genes that cause disease.

That is provoking deep ethical debate.

Dr Sarah Chan, a bioethicist at the University of Edinburgh, told the BBC: “I don’t think this study should raise any ethical concerns.

“It is very clear that the aim of the research was basic science and that there was never any intention to create genetically modified human beings.

“That said if we could one day use gene editing in human embryos for medical purposes, the potential benefits could be huge, but before we took such a step we would want to make sure that we’d had a really robust and wide-ranging public dialogue on all of the ethical issues involved.”

Dr Rob Buckle, the chief science officer at the UK Medical Research Council, said: “Genome editing technologies are having a game-changing effect on our ability to understand the function of critical human genes.

“As genome editing techniques develop it’s vital that this work continues within a robust yet adaptable regulatory framework so that its full potential can be realised in a scientific, ethical and legally rigorous way.”

Follow James on Twitter.

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As Men’s Weight Rises, Sperm Health May Fall

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WEDNESDAY, Sept. 20, 2017 (HealthDay News) — A widening waistline may make for shrinking numbers of sperm, new research suggests.

Indian scientists studied more than 1,200 men and found that too much extra weight was linked to a lower volume of semen, a lower sperm count and lower sperm concentration.

In addition, sperm motility (the ability to move quickly through the female reproductive tract) was poor. The sperm had other defects as well, the researchers added. Poor sperm quality can lower fertility and the chances of conception.

“It’s known that obese women take longer to conceive,” said lead researcher Dr. Gottumukkala Achyuta Rama Raju, from the Center for Assisted Reproduction at the Krishna IVF Clinic, in Visakhapatnam. “This study proves that obese men are also a cause for delay in conception,” he added.

“Parental obesity at conception has deleterious effects on embryo health, implantation, pregnancy and birth rates,” Rama Raju explained.

How obesity affects sperm quality isn’t known, he pointed out.

But in continuing research, the study team is looking to see if losing weight will improve the quality of sperm.

Although that study is still in progress, early signs look good that sperm quality improves as men lose weight, Rama Raju said.

One U.S. fertility expert said the findings have broad implications in America.

“About one-third of men in the United States are obese,” said Dr. Avner Hershlag, chief of Northwell Health Fertility in Manhasset, N.Y.

America is getting fatter and fatter, despite the proliferation of new diets and exercise routines. And about one-sixth of children and adolescents are already obese, Hershlag noted.

“Along with the growing obesity trend, there has been a steady decline in sperm quality,” Hershlag said. “The findings in this study, while not specifically related to infertility, represent a trend towards a decline that is worrisome.”

Recent reports have found that extreme weight loss after bariatric surgery reversed some of the sperm decline, he said.

“The message to men is don’t continue to abuse your body,” Hershlag said. “Comfort foods and excess alcohol are bound to make you uncomfortable and put you at a higher risk for diabetes, high blood pressure and heart disease, which are all life-shortening, and may also put a damper on your path to fatherhood.”

For the study, Rama Raju and his colleagues used computer-aided sperm analysis to assess the sperm of 1,285 men. Obese men, they found, had fewer sperm, a lower concentration of sperm and inability of the sperm to move at a normal speed, compared with the sperm of men of normal weight.

Moreover, the sperm of obese men had more defects than other sperm. These defects included defects in the head of the sperm, such as thin heads and pear-shaped heads.

All of these sperm abnormalities may make it more difficult for obese men to achieve conception, either through sexual intercourse or through IVF, the researchers said. But the study did not prove that obesity causes sperm quality to drop.

According to Rama Raju, this is the first study of abnormal sperm in obese men based on computer-aided assessment. The report was published online Sept. 19 in the journal Andrologia.

Computer-aided sperm analysis might be something doctors should do before IVF, he suggested.

Dr. Nachum Katlowitz, director of urology at Staten Island University Hospital, in New York City, pointed out that “the effect of obesity on sperm is another reason why Americans need to work on this epidemic.”

The idea that obesity affects sperm is well known, he said. “There’s no doubt we should take this information as another link in the chain to push us to help our patients obtain a healthy balance and a slimmer waistline,” Katlowitz said.

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