Researchers track high frequency of genetic diseases in Quebec's Saguenay-Lac-St-Jean – EverythingGP
Dr. Tania Cruz Marino, the first author listed on the study, said the idea for the research came after doctors in the region started seeing cases of extremely rare diseases cropping up in people from separate families.
“Why do we see such a rare variant for a disease that’s almost unknown in the world, repeating itself in people that aren’t related?” she said in an interview.
But the results of the study, which was a collaboration between medical professionals in a clinical setting and researchers analyzing years worth of genetic data, surprised even the researchers.
Cruz Marino said one disease — Oculogastrointestinal neurodevelopmental syndrome — is so rare that only 10 people in the world have it, and five of them are in Saguenay-Lac-St-Jean.
Luigi Bouchard, also one of the study’s authors and professor in biochemistry and genomics at Université de Sherbrooke, said the carrier frequency for the various diseases documented in the study ranged from one in 15 people to one in 124.
That number refers to people who carry the defective genes that cause illness, but who are not necessarily sick themselves.
“In all cases, it’s higher than what we could expect in the rest of the world,” he said.
The higher frequency of these rare diseases is the result of a “genetic lottery,” Bouchard said.
The French-speaking Saguenay-Lac-St-Jean population was fairly isolated until recent decades, had a high birthrate and descended from a small pool of common ancestors, which means any hereditary diseases they carried would tend to occur more frequently in subsequent generations, he said.
This “founder effect” means that some genetic diseases that are extremely rare elsewhere are more common in the region, while others may be completely absent, he said.
All of the diseases are recessive — both parents have to be carriers of the defective gene in order for their offspring to have a chance of developing the condition, Bouchard said. A child with two carrier parents has only a 25 per cent chance of developing a disease, meaning that diagnoses are extremely rare even in the region.
Cruz Marino and Bouchard say that while the results may sound scary for some people, their research could have a positive contribution to the screening, identification and treatment of rare diseases in Saguenay-Lac-St-Jean.
In particular, they’re calling on the province’s Health Department to expand a program that offers free genetic screening tests to would-be parents with at least one biological grandparent born in the Saguenay—Lac-Saint-Jean, Charlevoix or Haute-Côte-Nord regions.
The program currently screens for four diseases that were previously identified, but Bouchard and Cruz Marino say they think between five and eight more should now be added to the list. They also believe newborns in the region should be given hearing tests early on to screen for the condition causing hearing loss, which has a carrier frequency of one out of 32 people.
They’re hoping the study will raise awareness of the importance for couples to get screened — ideally before they get pregnant — because a healthy person has no way of knowing whether they’re a carrier.
The study included 82 French-Canadian individuals affected with genetic disorders, as well as 1,059 people who were healthy but who accessed the screening program to see if they were carriers.
This report by The Canadian Press was first published Feb. 28, 2023.
Morgan Lowrie, The Canadian Press
‘Worsening spread’ of deadly fungal infection raising alarm in U.S. – Global News
Cases of a drug-resistant infection caused by the fungus Candida auris are on the rise in the United States, according to new data from the Centers for Disease Control and Prevention (CDC). The fungal infection has proved deadly, especially for those with compromised immune systems, and has demonstrated an ability to spread easily in health-care settings.
The CDC data was published Monday in the Annals of Internal Medicine, amid an outbreak of fungal infections in long-term care facilities in Mississippi. The U.S. health agency found that cases of C. auris increased 95 per cent from 2020 to 2021 following a 44 per cent increase the year prior.
Preliminary figures estimate that there were 2,377 active C. auris infections across the U.S. in 2022, with 5,754 “colonization” cases. A colonization case denotes when a person has evidence of the fungus in their body without signs of an active infection.
C. auris, a type of yeast that can infect the bloodstream, is resistant to multiple anti-fungal drugs and is estimated to kill about 40 per cent of people who become infected, according to Health Canada. Even when patients survive, they can remain “colonized” with the fungus for years after treatment, the CDC says, and potentially pass it along unsuspectingly.
These fungal infections are of most concern to people who have been hospitalized for long periods of time, are at high risk of infection, or have medical implants. The organism often causes no symptoms in healthy people.
C. auris was first detected in the U.S. in 2016, though case numbers remained low until the “dramatic increase in 2021,” the CDC report reads. The fungus was first discovered in 2009 in Japan and has since caused outbreaks in numerous countries around the world.
Rising cases of C. auris infections, “especially in the most recent years, are really concerning to us,” said the study’s lead author, Dr. Meghan Lyman, chief medical officer in the CDC’s Mycotic Diseases Branch. “We’ve seen increases not just in areas of ongoing transmission, but also in new areas.”
“There’s still a lot to learn about colonization patterns,” Lyman said. “While (medicine) may treat the infection, we don’t have evidence that it completely eliminates C. auris from their body.”
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Between 2012 and 2021, there were 31 cases of C. auris found in hospitalized patients in Canada, according to data from the National Microbiology Laboratory and Canadian Nosocomial Infection Surveillance Program.
The CDC’s warnings come as Mississippi battles an outbreak of the fungus.
At least 12 people in the state have been infected with the fungus with four “potentially associated deaths,” said Tammy Yates, spokesperson for the Mississippi State Department of Health. Both those numbers doubled since an earlier update on the outbreak in January. The first cases were noticed in the state last year in November.
Transmission of the infections occurred in two long-term care homes, with Yates noting that “multi-drug resistant organisms such as C. auris have become more prevalent” in such facilities and among “highest risk individuals.”
The World Health Organization ranked C. auris as one of the worst fungal threats facing humanity today, given its high mortality rate and resistance to treatment. Recent research suggests that serious fungal infections as a whole affect 300 million people worldwide and more than 1.5 million die from them each year.
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Dr. Waleed Javaid, director of infection prevention and control at Mount Sinai Downtown in New York, said that the new CDC data on C. auris is “worrisome.”
“But we don’t want people who watched The Last of Us to think we’re all going to die,” Javaid said. “This is an infection that occurs in extremely ill individuals who are usually sick with a lot of other issues.”
Global News has reached out to Health Canada for further comment on the current status of C. auris infections in the country.
© 2023 Global News, a division of Corus Entertainment Inc.
Report calls for restricting food marketing to kids – CP24
A new report that looks at the prevalence of marketing to children inside grocery stores and restaurants suggests regulation is needed to help reduce unhealthy food temptations.
The report, funded by Heart and Stroke and published on Tuesday, audited displays at more than 2,000 restaurants and 800 stores across Canada and says children may be bombarded with messages that make junk food seem appealing.
Researchers found nearly 53 per cent of stores had “junk food power walls” at checkout aisles, which it says are prime areas to market to kids because products are placed within their reach.
The research said that placement encourages “pester power” — when children nag or pester their parents to make impulse purchases.
“Parenting is hard enough without having to deal with environments that are explicitly designed to get our kids pestering us for junk food that’s not supportive of their health,” said Leia Minaker, the author of the report and an associate professor at the University of Waterloo.
“We’re set up to fail by the stores and the restaurants that we go into,” Minaker said.
“It’s really hard to make healthy choices for your kids in this context.”
Designs and themes such as “magic, adventure and zoo animals” are also commonly seen in beverage and ice cream fridges, Minaker said.
The report comes as Bill C-252 for “prohibition of food and beverage marketing directed at children” is under consideration by the House of Commons Standing Committee on Health.
“Given the high proportion of child-directed marketing observed in both stores and restaurants in this Canadian research, it’s clear that policies aimed to restrict marketing of unhealthy food and beverages to kids – something long promised by the federal government – should include point-of-sale locations,” said Doug Roth, CEO of the Heart and Stroke Foundation in a news release.
Stores can help by creating “healthy checkout policies,” where checkout aisles wouldn’t feature junk food and sugary drinks, the report said.
Prohibiting toy giveaways with unhealthy children’s meals in restaurants could also help reduce consumption of unhealthy food, it said.
The Retail Council of Canada (RCC) said it “questions” the report’s findings, including how often certain types of advertising displays are directed at children.
“(That) seems to be offside for us,” said Michelle Wasylyshen, spokeswoman for the council, in an email on Tuesday afternoon.
“The focus should not be on retail, but on the national and global supplier brands that own and sell these products across a variety of channels since they have control over packaging and design and ultimately advertising,” she said.
“RCC has been working closely with Health Canada and other stakeholders on this and related issues.”
A spokesperson for Ad Standards, the Canadian self-regulatory organization for the advertising industry, said they couldn’t comment specifically on the report.
But they directed The Canadian Press to the Code for the Responsible Advertising of Food and Beverage Products to Children, which restricts advertising of products that don’t meet certain nutritional standards to children under 13 years of age.
Ad Standards will begin administering the code later this year, spokeswoman Jessica Yared said in an email.
But according to the code, the restrictions don’t apply to many point-of-sale marketing tactics, including “displays, in-store flyers, posters, menus, menu boards and other on-premises communications and material about a food or beverage product.”
However, those marketing media “may not include language that directly urges a child to buy the product, or directly urge a child to ask another person to buy it for them,” Yared said.
This report by The Canadian Press was first published March 21, 2023.
Canadian Press health coverage receives support through a partnership with the Canadian Medical Association. CP is solely responsible for this content.
Media Advisory: Update on Students with Incomplete Immunization Records – Windsor-Essex County Health
Issued: Wednesday, March 22, 2023 | 10:00 a.m. | Windsor-Essex County
As of March 22, 2023, there are 892 elementary school students suspended due to missing vaccinations as required by the Immunization of School Pupils Act (ISPA) R.S.O.1990 or immunization records that have not yet been submitted to the Windsor-Essex County Health Unit (WECHU). The WECHU will continue to offer clinics daily. Please note that if your child is ill, they will not be immunized, please wait to bring your child to be immunized when they are well.
To have the child’s suspension order lifted, parents/guardians must do one or more of the following so that their child’s immunization is up to date:
- Book an appointment for their child to receive the missing vaccines or provide a valid exemption from their Health Care Provider. Have their healthcare provider fax the child’s updated immunization records to the WECHU @ 519-258-7288.
- Bring their child’s immunization record to the WECHU Windsor or Leamington location
- Update their child’s record at immune.wechu.org (must upload proof).
- Attend a WECHU walk-in clinic. For more details, visit wechu.org/getimmunized.
Once the student’s record is up to date with the WECHU, the student may return to school.
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