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No one knew why the kids in 2 Amish families were dying suddenly. Now researchers have some answers – CNN



The autopsies didn’t offer any clues. The children’s hearts appeared normal. The family had what they referred to as “the curse of sudden death.” And medical examiners couldn’t figure out why.
After the deaths of the first two children, a medical examiner who conducted the autopsies got in touch with researchers at the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory in 2004. Researchers at the lab had pioneered the concept of molecular autopsy, using genetic testing to understand the cause of death in sudden unexplained cases, and the examiner wanted to see if they could shed light on the mystery affecting the Amish community.
The team suspected that a gene called RYR2 could be the culprit — mutations of the gene can cause a cardiac arrhythmic disorder that can lead to exercise-fainting spells, seizures or even sudden cardiac death. But when they analyzed the gene to check for mutations, nothing turned up.
The case remained cold for more than a decade. As the years went by, pediatric cardiologists and genetic counselors from other parts of the country reached out to the lab about other Amish families whose children had also died sudden deaths — all looking for answers about this heartbreaking phenomenon.
Then last week, researchers at the Mayo Clinic lab reported a breakthrough, published in JAMA Cardiology. With the help of new technology that wasn’t around when they first started looking into the case, the team learned that these Amish children had all inherited the same genetic mutation from both of their parents. And out of the 23 young people who had inherited the mutation, 18 had died sudden deaths.
“As we started building out the family structure, it became apparent to us that this was most likely a recessive disorder,” David Tester, the lead scientist on the case, told CNN. “With more information and more technological advancement in terms of being able to look at genes, we were able to put this puzzle together.”

The children likely had a common ancestor

Turns out, it was RYR2 — the gene the researchers had suspected all along. But there wasn’t just one mistake in the gene. More than 300,000 base pairs in the gene had been duplicated.
“We finally figured it out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose,” Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, told CNN.
To develop the duplication that causes sudden death, a child has to inherit a mutated gene from each parent — the chances of which are 25 percent. That four children in one family inherited the mutation and died sudden deaths is incredibly unfortunate, Ackerman said.
The Amish may be more vulnerable to recessive inherited conditions because they are descended from a small number of ancestors and tend to intermarry, Tester said. The two families studied in the report are seemingly unrelated, but because the children all had the exact same duplication in a gene inherited from both parents, Ackerman said that it’s likely that they have a common ancestor.

The discovery can help prevent sudden death

Now that researchers know about this genetic marker, there are steps that medical professionals can take to prevent sudden deaths from occurring in other Amish children, Tester said.
“Having this genetic biomarker, we can now very easily test any individual for the presence of the mutation,” he said. “Having that ability can potentially save lives.”
Knowing who has the mutation and who doesn’t is the first step to preventing tragedies like the ones experienced by the families in the study, Ackerman said. If adults who are carriers for the mutation know that they have it, they can make informed decisions about whether or not they should marry another person who is also a carrier.
There are still challenges ahead. For children who have inherited the mutation and are at risk of sudden death, the only solution to prevent it is an implantable cardioverter defibrillator (ICD), which can be extremely expensive. Ackerman said his team is working on understanding more about what causes the duplication in the gene so that a medication to prevent it can be developed, a treatment that would be much more accessible.
“We’re going fast and furious to try to get this figured out for this Amish community,” he said.
But for now, Ackerman hopes the discovery will provide some closure to the families who have lost their loved ones.
“We finally have figured out the curse of sudden death for the Amish community and they now have peace of mind as to the reason,” he said.

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World AIDS Day— A conversation with Dr. Jean-Pierre Routy – McGill University Health Centre



An update on HIV research and care, nearly two years into the COVID-19 pandemic


On the occasion of World AIDS Day, we spoke with Dr. Jean-Pierre Routy, Clinical Director of the Chronic Viral Illness Service at the MUHC, Senior Scientist in the Infectious Diseases and Immunity in Global Health Program at the Research Institute of the MUHC and Director of the FRQS AIDS and Infectious Diseases Network. Dr. Routy is also the co-chair of the International AIDS Conference 2022, which will be held from July 29 to August 2, 2022, in Montreal.

Dr. Jean-Pierre Routy

To mark World AIDS Day, you have organized an event to pay tribute to the pioneers of Quebec’s HIV-AIDS response.

Yes. We want to pay tribute to the doctors and field workers who initiated the fight against AIDS in Quebec 40 years ago, to talk about the progress that was made and commemorate HIV victims. Hosted by Yanick Villedieu, science journalist at Radio-Canada, the evening will include testimonies from some of the pioneers, as well as literary reading selected by author Catherine Mavrikakis, and read by Jean Marchand.

You talk about progress… What is the status of HIV/AIDS research today?

After 40 years of research, there is still no effective HIV vaccine. The challenge is to develop an HIV vaccine that does not create inflammation, and so far, this has not been successful.

In fact, the “superpower” of HIV is that it infects cells when they enter an inflammatory phase to fight an enemy. The cells “cry wolf” and the wolf—in this case HIV—infects them more easily because it knows where they are. This mode of action is unique to HIV, which infects CD4 lymphocytes that are central to the coordination of the immune response. Moreover, we know that the colon has more CD4 cells and therefore more HIV, because the cells are more inflamed.

For this reason, recent scientific developments about the gut microbiome is of particular interest to HIV research. Every day, immune cells in the digestive system must stop microbes while allowing nutrient absorption. Alteration of these immune cells contributes to an inflammatory syndrome related to a greater passage of microbial particles into the blood. This regulatory process could be modified by drugs that act in the digestive tract, as suggested in a recent study that we published in PNAS.

On the other hand, where we have failed with vaccines, we have prevailed with antiretroviral drugs, which are now incredibly powerful. These treatments make it possible to achieve and maintain an undetectable viral load and thus to stop sexual transmission—hence the equation undetectable = untransmissible (u=u). People living with HIV, and who follow treatment, no longer transmit the virus. For people who engage in risky behaviours, taking daily medication protects them from acquiring the virus, but not from other sexually transmitted infections.

In both types of treatment, people must take daily medication, which is sometimes difficult. As a result, what is being developed now is a long-acting injectable drug that could protect an individual for six months. A two-month version is already on the market in Canada; its development was delayed by the COVID-19 pandemic. The 6-month version should have a greater impact.

How has the COVID-19 pandemic affected research and care?

Like other diseases, AIDS has been overshadowed by COVID-19. A lot of research money was invested in COVID-19. In many cases, the same doctors who were working on HIV started working on SARS-Cov-2. So obviously, research has slowed down a bit.

On the care and prevention side, the pandemic has affected the follow-up of some patients. Approximately 10 per cent of patients stopped their treatment or interrupted their medical follow-up, which led, for some, to hospitalizations. Some patients lost their jobs and stopped taking their medication due to a drop in income. There has also been a decrease in the number of tests performed, following temporary closure of testing centres. We do not have precise figures yet, but this has certainly had an impact on health and the transmission of HIV.

What are your hopes for the future?

COVID-19 has had dramatic effects around the world but remains benign in the majority of cases. HIV, on the other hand, affects people for life and remains a major source of stigma.

It is important to re-engage and follow the science—the theme of the upcoming International AIDS Conference 2022, to be held in Montreal next summer. We need to re-engage patients, prevention, vaccine research, and the pharmaceutical industry. All of this must be based on science, and that involves fighting anti-immigrant, anti-LGBTQ2+ rhetoric. When it comes to communicable diseases, we must never let our guard down.

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How to talk to children about getting their vaccine: U of T's Jean Wilson shares advice – News@UofT



With kids age five to 11 now eligible for COVID-19 vaccines in Ontario, Jean Wilson of the University of Toronto’s Lawrence S. Bloomberg Faculty of Nursing has some tips to help lessen children’s fear of needles – and ease parents’ anxiety, too. 

Jean Wilson

“Well before their child’s first scheduled vaccinations, I start by talking to parents about the importance of vaccinations,” says Wilson, an assistant professor, teaching stream and nurse practitioner at St. Michael’s Hospital. “Every parent wants to do what is best for their child, so the more information they have the more comfortable they will be with their decision.”

Wilson was part of a panel of experts from the Leslie Dan Faculty of Pharmacy, Faculty of Nursing, Centre for Addiction and Mental Health and Niagara Region Public Health who shared insights last week in a talk titled “How to Talk to Your Children About Vaccines.” The event aimed to provide parents and caregivers with helpful information to prepare their kids for vaccines including Health Canada-approved COVID-19 shots.

The line-up of speakers also featured Anna Taddio, a pharmacy professor who developed the CARD system to reduce pain and fear of needles among kids. CARD (Comfort, Ask, Relaxation and Distract) is an evidence-based system that invites students to choose a coping strategy to improve the vaccination experience (such as playing with their phones to distract them from getting a shot.)  

Wilson, who has worked for the Public Health Agency of Canada on communicable disease outbreak management, discussed how the mRNA vaccines work and the importance of vaccination.

She recently spoke with U of T’s Rebecca Biason about how to help kids cope with needle phobia and how nurse practitioners can reduce vaccine hesitancy. 

How can parents help kids feel comfortable with getting vaccinated?

One of the first things I ask parents is whether they are afraid of needles. If the parent is anxious, the child can often pick up on this energy. I suggest that parents try to get as much information as possible about the decision they are making, appear calm and normalize the situation when discussing vaccines and needles with their children. Being honest with their child is very important. It is important to say, “We are going to get your needle today, it will pinch for a few seconds, but right after we will go to the store [or some other positive experience for the child].” Making it a part of a normal day helps the child feel more at ease and doesn’t make the vaccine experience feel so momentous.

This is also where parents and practitioners can utilize Professor Anna Taddio’s Comfort, Ask, Relax, Distract (CARD) system. I will often ask parents to help the child feel comfortable. Maybe that’s lying down or maybe that’s sitting on the parent’s lap. For babies who are breastfeeding, I would encourage mom to breastfeed before and after the vaccine as it has been shown to comfort, distract and manage pain.

Parents and practitioners can adapt the CARD system depending on the developmental age of the child as well. For older kids or teenagers, we might suggest they put headphones on and listen to their favourite song.

In my practice, I have liquid bubbles on hand to blow after a vaccine that works really well for children six months and up. Sometimes, we clap hands and/or sing songs after the vaccination – all of which can distract the child from any pain they might feel. I might also ask the child to wiggle their toes on the count of three before giving the shot. This distracts the brain/pain pathway physiologically, and can also help minimize pain.

The CARD system is an important part of the toolbox and I encourage practitioners and parents to try and utilize it to help make the vaccination process for their children more comfortable, less anxiety provoking and empowering for parents too.

How are the common misconceptions about the vaccine that you have encountered?

I get questions about the vaccine being rushed to market and whether it is safe. While the pandemic has required a more expedited process to help us get a vaccine, I discuss with parents that we have a comprehensive and robust vaccine approval process in Canada, and this continues even with the COVID-19 vaccines. While the vaccine manufacturer information and research data is coming in on an ongoing basis, experts at Health Canada, the Public Health Agency of Canada and provinces have been working hard to review the information in detail, strictly adhering to all the safety checks and balances that have always been in place to ensure that vaccines used in Canada are effective and safe.

The Pfizer-BioNTech COVID-19 vaccine approved for use in children by Health Canada shows side-effects that are very mild and similar to what we have seen with children 12 years and older receiving the vaccine. There were no severe allergic reactions or complications (such as myocarditis/pericarditis, multi-system inflammatory syndrome or deaths). This safety profile has also been seen in the 2.5 million children vaccinated in the United States where the vaccine was approved earlier this fall.

Another question I often get is does the mRNA change our DNA and/or interfere with fertility? The answer is no.

I tell parents how the vaccine works in the body. The mRNA in the vaccine is a small blueprint for only the spikes on the outside of the virus that causes COVID-19. When the person gets the vaccine, the mRNA goes into the cell but never goes into the nucleus where our DNA is stored. The mRNA stays in the cell liquid outside the nucleus and that is where the mRNA is read, processed and protein pieces move to the outside of the cell surface, so the person’s immune system starts to create protection called antibodies against COVID-19. The body destroys all the vaccine mRNA shortly after it is read. Once antibodies are created, if the person is ever exposed or infected with the actual COVID-19 virus, their immune system identifies the spikes and immediately starts to attack the virus and stops or minimizes the infection.

Why should parents vaccinate their children against COVID-19?

Parents want to make the best decisions for their children. This is where the “Ask” part of the CARD system comes into play. A parent’s hesitancy around vaccinations can be the result of a variety of things including their own experiences with vaccinations, mistrust of the health-care system as a whole or misinformation they have gleaned from the internet. Providers can often alleviate hesitancy by providing trusted information and online resources.

I often get questions about why children should get vaccines if they don’t get symptoms or only a very mild case of COVID-19. While this is true, unfortunately in the third and fourth COVID waves, we have seen more children becoming sick with COVID. While the risk of severe illness and hospitalization is less for children compared with adults, this still occurs and can happen to children who were otherwise healthy.

I discuss with parents the possible complications of COVID. Some children might develop multi-system inflammatory syndrome and require hospitalization. We also know from newly published research about children with COVID, regardless of the severity, can develop complications such as long COVID, a condition in which COVID symptoms remain with the child for months after the initial illness. We are still learning more about this.

Finally, I talk to parents about the social and psychological aspects of the pandemic on children. The faster we get as many people protected from this virus, the sooner we can get back to normal life for both parents and children. We know that children have been impacted by the change in routine, social isolation, disruption to school and extracurricular activities and the stressful impact COVID has had on their parents, family and friends. Part of the vaccination process is to assist in making the child’s environment stable again for their well-being. I encourage parents who are talking to their children about the COVID vaccine to explain that this will help us get back to activities they love such as going to school, sports activities, sleepovers, visiting grandparents and other elderly loved ones and taking family trips.

When I sit with people who have been hesitant, it takes such a short amount of time to answer their questions in a non-judgmental, respectful way. It doesn’t take much to reassure them. As practitioners, we must be able to take that time to listen and answer questions knowledgably and most of the time, parents are reassured and feel better informed to make this important decision for themselves and their children. Nurses are a highly trusted profession and viewed as being knowledgeable. Using that gift and skill is vital to helping people make evidence-based decisions.

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Omicron could threaten COVID-19 immunity — but we're not going back to 'square one' –



The omicron variant, now reported in multiple Canadian provinces and a growing number of countries worldwide, could threaten hard-won immunity to the virus behind COVID-19.

But global scientists say the world has a crucial head start on the latest variant of concern, thanks to early detection. And there’s hope this highly mutated version of the coronavirus won’t bring the world back to “square one” in this pandemic.

South African scientists quickly identified and alerted the world to the variant last week, finding a concerning number of mutations that could potentially impact the effectiveness of vaccines, the transmissibility of the virus and even the severity of disease. 

Immunologists and virologists say that while it will still take time to determine the variant’s real-world impact, our immunity from vaccines and prior infection could take a significant hit if it takes off globally. 

“I wouldn’t say that this one’s going to put us back to zero,” said Deepta Bhattacharya, an immunologist at the University of Arizona.

“But I do think that if it does spread, it’s going to be a bigger problem than any of the variants we’ve seen before.” 

30+ mutations in spike protein

Omicron contains more than 30 mutations in just the spike protein, the part of the coronavirus which helps it enter human cells.

Bhattacharya said while the mutations in the virus are concerning, it’s important to keep in mind that the immune system is “multi-layered,” and that protection from vaccines and prior infection against severe disease will likely still hold up against the new variant. 

“I think what we’ll see is, in all likelihood, a pretty big drop in how well antibodies work,” he said. “But then once we start to get some real-world studies into how things are doing, my guess is that the vaccines will still be doing a decent job in protecting people from getting really sick.”

WATCH | Will our vaccines protect us against the omicron variant? 

Will our coronavirus vaccines protect us against the new variant?

18 hours ago

Infectious disease specialist Dr. Isaac Bogoch responds to conflicting statements regarding the effectiveness of current coronavirus vaccines against the omicron variant. 2:16

Canada could actually be in a better position than other countries if omicron spreads more widely, Bhattacharya said, because our delayed second dose strategy provided “more optimal” immune protection in the population.

“What’s pretty clear is that that delayed spacing made a big difference in terms of antibodies and protection against delta — and I suspect it will be the same for omicron if it takes off,” he said. 

“We’ve seen some other variants like this in the past that had us concerned — beta, I think, would be the best example — and it didn’t really take off. It basically just got creamed by delta. And I think we still don’t know the answer as to how this is going to go for omicron.”

Several leading vaccine manufacturers have announced they’re keeping a close eye on omicron and could have new vaccines ready in mere months, if needed.

Moderna’s CEO has also suggested that existing vaccines may be much less effective against the variant, though scientists are still waiting on hard data. 

‘Worst features’ seen so far

Angela Rasmussen, a virologist at the Vaccine and Infectious Disease Organization (VIDO) at the University of Saskatchewan, said while previous variants have had similarly troubling characteristics, the real scientific concern with omicron isn’t just the number of its mutations, but where they are. 

“Unfortunately, based on just the mutations, it looks like the omicron variant has some of the worst features of all of the variants of concern that we’ve seen thus far,” she said. 

“But it’s also really important to note for people that we don’t know exactly what’s going to happen when all of these mutations get together, especially with all the other mutations that the omicron variant seems to have acquired.” 

Some of omicron’s mutations have been associated with increased transmissibility, similar to alpha and delta, she said, while others have been associated with higher immune evasion, like with beta and gamma. And she notes delta has so far dominated all other variants.

“One of my biggest concerns is not so much that omicron is going to be more severe, but if omicron begins outcompeting delta,” Rasmussen said. 

“Especially if it’s capable of causing more breakthrough infections that potentially could lead to another wave in many countries, particularly in the northern hemisphere, as we begin to go inside during the colder winter months and in preparation for the holidays.” 

Precautions will likely still work against variant

But as speculation about the variant spreads quickly alongside rising case numbers, experts say it’s important to keep in mind that vaccines, public health restrictions and personal precautions will likely continue to work well to stop the spread of COVID-19.

“The key right now is we have to stick to the toolbox that we have developed over the last almost two years,” said Dr. Abraar Karan, an infectious diseases fellow at Stanford University in Stanford, Calif.

“The advantage that we have, any time we see a new variant, is we’re still dealing with SARS-CoV-2.”

If research confirms early signals that omicron is more transmissible, the usual principles still apply: It’s best to limit time in crowded indoor settings, and the use masking and increased ventilation to prevent the airborne spread of this virus. 

“Don’t enter into a situation that is likely to be a danger for high transmission, meaning many unvaccinated people not wearing masks,” said Rasmussen. 

WATCH | Canada watching omicron variant closely, Trudeau says: 

Canada is watching the omicron variant closely, Trudeau says

23 hours ago

Prime Minister Justin Trudeau says Canada may need to do more to control the new omicron variant. 0:24

With the holidays underway, Karan said it’s also crucial to layer precautions when gathering with family, like being fully vaccinated and adding in extra protections like mask-wearing — particularly around vulnerable groups who are at a higher risk of a serious infection.

“If you’re indoors, around a lot of people, you have to think: ‘Am I somebody, if I get COVID, is this very life-threatening for me?'” said Karan.

Wearing a high-quality mask, such as a KN95, would help stop aerosols or droplets from spreading, Karan noted, even if omicron proves more adept at latching onto human cells.

Unusual for variant to render vaccines ‘obsolete’

Multiple experts also agreed that what’s particularly crucial right now is for unvaccinated individuals to get their shots. 

“At the individual level, if people are not yet vaccinated, they absolutely should get vaccinated,” said Dr. Isaac Bogoch, an infectious diseases physician.

There are also other ways to expand vaccination coverage, he said, including that children five and up are now eligible for inoculation, and the potential for booster eligibility to expand to more older adults. 

WATCH | What’s known about the omicron variant:

What’s known about the omicron variant

4 days ago

The World Health Organization has declared a new variant of concern called omicron, first identified in South Africa. Scientists say there are a large number of mutations in the omicron variant, which means it could be more infectious and cause more severe illness. 3:00

Even if omicron is capable of evading some level of immunity from the current slate of vaccines and antivirals, which targeted the virus’s original strain, Rasmussen doesn’t expect the variant to fully reduce vaccine-based protection.

“Your immune system is composed of more than just neutralizing antibodies, and we do have other antiviral therapeutics that are in the pipeline,” she said. “So we’re not back to square one.”

Until we know more about what we’re up against, Bogoch said we can’t assume the worst. 

“It would be extremely unusual for a variant to emerge that renders the protective benefit of vaccination completely obsolete,” he said. 

“This may be chipping away at some of the protective immunity, and we’ll figure out if it does and to what extent in the days and weeks ahead. But some people are discussing that this is going to set us back to January of 2020 — and nothing could be further from the truth.”

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