About 15 years ago, an Amish family in the eastern U.S. was hit by an unexplainable tragedy — one of their children died suddenly while playing and running around. Just a few months later, the same fate befell another one of their children. Six years later, they lost another child. Two years after that, another one.
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 counsellors 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.
Ontario sees ‘glimmers of hope’ over COVID, challenges remain
The Canadian province of Ontario is starting to see “glimmers of hope” as the rate of new hospitalisations caused by the Omicron variant of the coronavirus slows, but challenges remain, health minister Christine Elliott said on Wednesday.
Elliott’s comments were the latest from officials in Ontario and Quebec – which together account for more than 60% of Canada’s population – to suggest that the worst of the Omicron wave might soon be over.
Ontario Premier Doug Ford told a radio station on Tuesday that the province would make a positive announcement this week about removing COVID-19 related restrictions imposed last month.
“We’re starting to see glimmers of hope … beginning to see signs of stabilisation,” Elliott told a briefing, adding that a peak in new hospitalisations would follow a peak in new infections this month.
“But I do want to be clear, February will continue to pose challenges, especially for our hospitals as people continue to require care for COVID-19.”
Federal Health Minister Jean-Yves Duclos, at a separate briefing, also spoke about pressure on the healthcare system. Duclos repeated the need for more people to get vaccinated, especially children aged between 5 and 12.
“Though the risk of hospitalization is lower for Omicron, the sheer volume of cases will likely increase hospital admissions,” Duclos said.
The Pacific province of British Columbia, citing concerns for its hospitals, extended gathering restrictions until mid-February on Tuesday.
(Reporting by Ismail Shakil in Bengaluru, editing by David Ljunggren in Ottawa and Grant McCool)
HPHA declares COVID-19 outbreak over at local hospital – BlackburnNews.com
HPHA declares COVID-19 outbreak over at local hospital
January 19, 2022 2:19pm
The Huron-Perth Healthcare Alliance says a COVID-19 outbreak at the Stratford General Hospital is now over.
In a release, the HPHA says the outbreak had been declared on the Inpatient Surgery Unit on January 7th after two cases of the virus were identified. Three patients got the virus during the outbreak, alongside eight HPHA staff members. With no further cases detected, the HPHA says “the Inpatient Surgery Unit has been reopened to admissions and transfers. Family and Caregiver Presence on the Unit has also been restored.”
Full guidelines can be found on the HPHA website at http://www.hpha.ca.
“Upon declaring the outbreak, immediate precautions were implemented, including prevalence testing in team members and patients,” says Andrew Williams, President & CEO of the HPHA. “While this outbreak is over, we can’t stress enough the importance of getting your COVID-19 vaccine and continuing to follow public health measures.”
Vaccination protects against COVID-19 hospitalization significantly more than prior infection, according to CDC study – CTV News
Both vaccination and prior infection help protect against new COVID-19 infections, but vaccination protects against hospitalization significantly more than natural immunity from prior infection alone, according to a study published Wednesday by the U.S. Centers for Disease Control and Prevention.
Researchers analyzed the risk of COVID-19 infection and hospitalization among four groups of individuals: vaccinated with and without prior infection and unvaccinated with and without prior infection. The study case data from about 1.1 million cases in California and New York between the end of May and mid-November 2021. Hospitalization data was available from California only.
Overall, COVID-19 case and hospitalization rates were highest among unvaccinated people who did not have a previous diagnosis.
At first, those with a prior infection had higher case rates than those who were vaccinated with no history of prior infection. As the Delta variant became predominant in the U.S. in later months, this shifted and people who survived a previous infection had lower case rates than those who were vaccinated alone, according to the study.
“Experts first looked at previous infections confirmed with laboratory test by the spring of 2021, when the Alpha variant was predominant across the country. Before the Delta variant, COVID-19 vaccination resulted in better protection against a subsequent infection than surviving a previous infection. When looking at the summer and the fall of 2021, when Delta became the dominant in this country, however, surviving a previous infection now provided greater protection against subsequent infection than vaccination,” Dr. Benjamin Silk, lead for CDC’s surveillance and analytics on the Epi-Task Force, said on a call with media Wednesday.
However, this shift coincides with a time of waning vaccine immunity in many people. The study did not factor the time from vaccination — and potential waning immunity — into the analysis. The study also does not capture the effect booster doses may have and was conducted before the emergence of the Omicron variant.
Throughout the period of the study, risk of COVID-19 hospitalization was significantly higher among unvaccinated people with no previous COVID-19 diagnosis than any other group.
“Together, the totality of the evidence suggests really that both vaccination and having survived COVID each provide protection against subsequent reinfection, infection and hospitalization,” said Dr. Eli Rosenberg, New York State Deputy Director for Science. “Having COVID the first time carries with it significant risks, and becoming vaccinated and staying up-to-date with boosters really is the only safe choice for preventing COVID infection and severe disease.”
Experts also noted that characteristics of variants change, including how well they effect immunity from prior infections.
The CDC said in a statement it will publish additional data on COVID-19 vaccines and boosters against the dominant Omicron variant later this week.
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