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Edmonton boy battles rare disease that makes him ‘itch like crazy’ – Global News

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Armando Perez was only three months old when he got itchy.

His mom, Alexandra Perez, says it wasn’t normal scratching that could be fixed with a cute pair of baby mittens. It was so bad that there were blood stains on his bedsheets and scabs on his little arms and legs.

At first, she thought Armando might have an allergy.

“I tried different laundry detergents and different body washes, but he was still itchy,” recalls Perez, as the now 2 1/2-year old and his big brother and little sister play with their grandpa in the downstairs of their Edmonton home.

“Then he turned yellow. I was like, ‘Well, that’s not normal.’”

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She says she took the boy to see a doctor, blood tests were ordered and they came back “totally out of whack.” The doctor sent Armando to a specialist and he was admitted for a week to the city’s children’s hospital for more testing.

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Perez and her husband, Walter, soon found out their son has progressive familial intraheptic cholestasis — an ultra-rare genetic liver disease that affects one in every 50,000 to 100,000 children born around the world.

Dr. Cara Mack, a pediatrician at Children’s Hospital Colorado, says there are 40 to 80 cases of the disease diagnosed each year in the United States. And there are six different types.

Armando has Type 2, which is caused by a gene mutation that decreases bile flow.






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Mack, who hasn’t treated Armando, says 100 per cent of Type 2 patients are symptomatic.

“Because of the fact that bile acids are stuck in the liver … that directly damages the liver,” says Mack, who notes it leads to scarring and eventually cirrhosis.

Mack says it also causes growth delays because children aren’t able to break down fats or absorb Vitamins A, D, E and K.

“You get significant deficiencies in those vitamins that can lead to, for example, significant bleeding,” she says. “If you are Vitamin D deficient, you can have thin bones and fractures.

“The last major symptom you get is severe itching because the bile acids are stuck inside the liver. They go backwards into the bloodstream and accumulate in the bloodstream.”

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That causes children to “itch like crazy,” she said.


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The itching continues day and night, which prevents many children from getting a good night’s sleep. It can even limit their appetite.

“It impacts every aspect of their life.”

Perez says she was shocked to learn that Armando has the rare genetic disease.

Both she and her husband are carriers of the gene that causes it, and there’s a 25 per cent chance of passing it on to a child. Their two other children don’t have the disease.

“Armando is the only one we know of in Alberta,” she says. “We only know of five other kids in Canada, so six in total that we know.”

Perez says Armando was put on a special formula with a fat he could absorb and he took vitamins and several different medications.

“He did improve so he wasn’t jaundiced anymore.”


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But, she says, her happy little boy is still scratching.

“The itch that comes from it is so intense and extreme,” explains Perez. “It’s constantly all the time, internal, so it can’t be taken away. He’s just always, always itchy.”

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Armando is to start a clinical trial soon that could address the itching.

“It doesn’t do anything for the progression of the disease, but it will help with his symptom of being itchy, which is his main problem,” says his mom.

In the meantime, his parents will continue to watch for signs that he’s getting sicker: losing weight, turning yellow, an inflamed belly.

“It’s hard to watch him when you can’t do anything.”

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Perez says it’s even more difficult knowing Armando is likely to need a liver transplant before he turns 10.

“There is no cure.”

© 2019 The Canadian Press

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Rapid 90-minute Covid-19 test shown to be highly accurate – Daijiworld.com

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London, Sep 18 (IANS): Researchers have created a 90-minute high speed Covid-19 test which does not require a laboratory and can be performed in cartridges smaller than a mobile phone with high accuracy.

The study, published in the journal The Lancet Microbe, revealed that the Lab-in-Cartridge rapid testing device, which can be performed at a patient’s bedside, was shown to have over 94 per cent sensitivity and 100 per cent specificity,

It means that it had a high level of accuracy and produced very few false negatives and no false positives.

To perform the test, a paediatric-sized nose swab from a patient is inserted into the device, which then looks for traces of genetic material belonging to the SARS-CoV-2 virus, which causes Covid-19.

A result is available within 90 minutes, compared to conventional Covid-19 testing which delivers a result in 24 hours.

“These results suggest the test, which can be performed at a patient’s bedside without the need to handle any sample material, has comparable accuracy to standard laboratory testing,” said study researcher Graham Cooke from the Kings College London in the UK.

According to the study, the device was used on 280 NHS staff members with suspected Covid-19, 15 patients in accident & emergency department with suspected Covid-19, and 91 hospital in-patients.

The samples from all individuals in the study were analysed on both the rapid-testing device, called the CovidNudge test, and standard hospital laboratory equipment – and then the results compared.

The research team assessed sensitivity and specificity.

Sensitivity is a measure of how well a test gives a positive result for people who have disease, and is an indication of how likely a test will produce false negative results.

Specificity, on the other hand, is a measure of a test’s ability to give a negative result for people who don’t have the disease, and is an indication of the likelihood of false positive results.

The percentage of those found to be positive for Covid-19 was 18 per cent.

The results showed 67 samples tested positive on the CovidNudge test, compared with 71 positive results against a range of standard laboratory machines, which represents the value of 94 per cent sensitivity.

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4 people test positive for COVID-19 after attending night club last week – CBC.ca

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Public health officials in Toronto are warning of a potential COVID-19 exposure that originated at a local night club last week.

The city’s public health unit says four people who have tested positive for the virus attended Noir inside Rebel Entertainment Complex on Sept. 11.

They say anyone who was at the club between 10:30 p.m. that night and 2 a.m. the next morning may have been exposed.

Toronto Public Health says those who were at the club that night should monitor themselves for symptoms until Sept. 25, as well as wear masks in public and wash their hands regularly.

They say officials are working to trace anyone who had close contact with the four positive cases.

Toronto is one of three regions that’s been leading a major spike in the province’s COVID-19 case numbers in recent weeks, along with Ottawa and Peel Region.
 

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Valley transmission rate among world's best | News | pentictonherald.ca – pentictonherald.ca

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A mid-month rise in COVID-19 cases can be traced back to British Columbians getting a little too close to one another over the Labour Day weekend, health officials say.

Another 139 cases, only three of which were in the region served by Interior Health, were announced province-wide between Thursday and Friday.

Since Sept. 15, the average number of new daily cases has been 153.

In the first two weeks of the month, the average daily number of new cases was 108.

“The cases we are seeing today are a direct result of how we spent our Labour Day long weekend. Let’s break the chain of transmission and turn this trend around,” Health Minister Adrian Dix and provincial health officer Dr. Bonnie Henry said in a joint Friday statement.

“No one intends to pass the virus onto friends or family, but it is very easy to do. It can take up to two weeks for symptoms of COVID-19 to develop and, in that time, we can inadvertently spread it to others.”

As of Friday, there were 1,803 active cases of COVID-19 in B.C. and another 3,075 who are under active public health monitoring because of their identified exposure to someone known to be infected.

Hospitalizations rose two, to 59, and 20 of them are in intensive care.

Across the province, 7,842 British Columbians have now been infected since the start of the pandemic, including 492 in the Interior Health region.

A total of 220 people have died in B.C. from COVID-19; two of those deaths occurred in the region served by Interior Health.

B.C. vs. Canada

A total of 330 people across the Okanagan have been infected by COVID-19 since the start of the pandemic, new figures from the government indicate.

That number represents 0.08 per cent of the region’s population of 377,000 people.

In the past two weeks, 13 people have been diagnosed with COVID-19 in the Okanagan.

The rate of transmission in the Valley is now among the province’s lowest, behind the West Kootenays and northwest B.C., and far below the rates being experienced in Vancouver and Surrey.

Every Thursday, the B.C. Centre for Disease Control produces a surveillance report covering a variety of COVID-19 data with infection statistics broken down by geography, patient age and likelihood of hospitalization.

The most recent report provides some context to the scope and effect of the pandemic beyond the daily case counts provided by Health Minister Adrian Dix and provincial health officer Dr. Bonnie Henry.

What often attracts the most media and public attention is the rising number of newly diagnosed COVID-19 cases.

Between Sept. 11 and Sept. 17, 833 new cases were confirmed provincewide, compared to 789 in the previous one-week period.

And the number of active COVID-19 cases across the province also rose in the past two weeks, from 1,412 to 1,705.

That number has been rising steadily since mid-July, and is now more than three times higher than active case counts in March, before the start of near-lockdown provisions ordered by the government.

But the surveillance reports also contain information that, while perhaps not reassuring exactly, give a fuller picture of how the pandemic is affecting British Columbians.

Here are some other highlights from this week’s COVID-19 surveillance report, with numbers accurate to Thursday:

— Cases have surged among people aged between 20 and 40, with that group now accounting for 44 per cent of all COVID-19 infections in B.C.

But only 10 per cent of British Columbians who’ve been hospitalized for the disease have been between 20 and 40, and no one in this age range has died of the disease.

Those numbers reflect the fact that reasonably healthy young people are simply much less likely to become seriously ill if they catch COVID-19.

— There are almost one million children and teenagers under 19 in B.C., but only 605 of them have caught COVID-19. That represents 0.06 per cent of the population group. Of the 605 children or teens who were infected, only five were hospitalized, none were treated in intensive care, and all have recovered.

— Of the 219 British Columbians who died of COVID-19 from the onset of the pandemic until this past Thursday, 28 per cent were over the age of 90, 69 per cent were over age 80, and 88 per cent were over age 70.

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