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Those With Rare Diseases Need to Wait, as Usual

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Science has developed the ability to research, develop and create functional cures for many of our so-called “incurable diseases”, but having the ability to do something and actually doing it are two different things. Medicine has always suffered from a problem with “knowing-doing”. It is the difference between what a doctor actually does for a patient and what can be done with all that we know. Developmental breakthroughs in medicine are allowing doctors to do things they never could imagine before. Sometimes these break-thoughts don’t fit into businesses/governmental financial or regulatory systems, meaning that it can take a long time for patients to actually benefit, a time many patients may not have.

The National Institutes of Health in America invest more than $40 Billion in biomedical research each year, and the private sector twice as much. The discoveries are valued by all, but why is it so hard to use these discoveries?

Science’s ability to engineer medicines has far outpaced how these medicines are actually built, tested, and put into human beings. Artificial Intelligence has assisted the community by mapping the human genome in efforts to cure various diseases. The US Government defines rare diseases as those that affect fewer than 200,000 people in America. Some affect only a handful of people. There are over 7000 different rare diseases, with more than 30 million people in America diagnosed with one of them. That is 10% of the US population. So improving how society can find and care for these patients could have a great impact. Problem is that the health system is not flagging enough people with these diseases, while many individuals don’t even know what disease they may have, or that they indeed have a disease. A.I. steps up front to assist in the recognition, tracking, analyzing, and identifying of these patients through computer-programmed systems. Put one’s symptoms into the machine, and often voila, a point from which a doctor can begin his medical investigation and treatment. A diagnostic odyssey in each individual case.

Artificial Intelligence has a prominent place within our health system, including helping design new treatments, helping predict which treatment is better for which patient, and screening for rare diseases with suggested diagnoses to boot. Why are many with rare diseases often left out in the cold, to search on their own for a cure? Money! Simple.

Who makes medicines, and invests millions in treatments and research for diseases? Pharmaceutical Firms.
What are they but profit centers for investment bankers, massive corporations, and a financial structure centered upon the shareholder, and not the average joe? Solutions can be found, but the willingness to spend way beyond what a firm can make in profits needs to be there. Sure our DNA is constantly changing, and evolving biologically. Making a drug that cures cancer, may cure some, but certainly not all forms since each person is unique, their biology specific to that person. Many doctors realize that their methods are much like witch Doctors, forever experimenting with the specific individual’s condition.

Our Health system is tied to our financial system. That is the root of it. So long as the doctors, hospitals, and researchers are tied to profit (our financial system) the necessary technology, research, and investment will not be found for those with rare diseases. I have a disease that has no cure. My immune system is attacking the tissue in my mouth. It is sorely painful, personally transformative, and damn if you could find a doctor who is a real expert in the field. Since it is rare, the institutions of the industry will not find proper medicine for its management, let alone its cure. I live with it, and the disease manages the way I eat, what I eat, how I clean my teeth, how I sleep, and interact with my partner too. This disease can transfer to another. Great eh!

For those of you who have or know of someone who has a rare disease, all I can say is to be patient. The present-day financial and healthcare systems need to change drastically, with governmental intervention in all aspects of research, planning, and manufacturing of medicines. Out of the hands who care for themselves, and hopefully into the hands of those who care about you and those you love.

Steven Kaszab
Bradford, Ontario
skaszab@yahoo.ca

Health

Whooping cough is at a decade-high level in US

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MILWAUKEE (AP) — Whooping cough is at its highest level in a decade for this time of year, U.S. health officials reported Thursday.

There have been 18,506 cases of whooping cough reported so far, the Centers for Disease Control and Prevention said. That’s the most at this point in the year since 2014, when cases topped 21,800.

The increase is not unexpected — whooping cough peaks every three to five years, health experts said. And the numbers indicate a return to levels before the coronavirus pandemic, when whooping cough and other contagious illnesses plummeted.

Still, the tally has some state health officials concerned, including those in Wisconsin, where there have been about 1,000 cases so far this year, compared to a total of 51 last year.

Nationwide, CDC has reported that kindergarten vaccination rates dipped last year and vaccine exemptions are at an all-time high. Thursday, it released state figures, showing that about 86% of kindergartners in Wisconsin got the whooping cough vaccine, compared to more than 92% nationally.

Whooping cough, also called pertussis, usually starts out like a cold, with a runny nose and other common symptoms, before turning into a prolonged cough. It is treated with antibiotics. Whooping cough used to be very common until a vaccine was introduced in the 1950s, which is now part of routine childhood vaccinations. It is in a shot along with tetanus and diphtheria vaccines. The combo shot is recommended for adults every 10 years.

“They used to call it the 100-day cough because it literally lasts for 100 days,” said Joyce Knestrick, a family nurse practitioner in Wheeling, West Virginia.

Whooping cough is usually seen mostly in infants and young children, who can develop serious complications. That’s why the vaccine is recommended during pregnancy, to pass along protection to the newborn, and for those who spend a lot of time with infants.

But public health workers say outbreaks this year are hitting older kids and teens. In Pennsylvania, most outbreaks have been in middle school, high school and college settings, an official said. Nearly all the cases in Douglas County, Nebraska, are schoolkids and teens, said Justin Frederick, deputy director of the health department.

That includes his own teenage daughter.

“It’s a horrible disease. She still wakes up — after being treated with her antibiotics — in a panic because she’s coughing so much she can’t breathe,” he said.

It’s important to get tested and treated with antibiotics early, said Dr. Kris Bryant, who specializes in pediatric infectious diseases at Norton Children’s in Louisville, Kentucky. People exposed to the bacteria can also take antibiotics to stop the spread.

“Pertussis is worth preventing,” Bryant said. “The good news is that we have safe and effective vaccines.”

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AP data journalist Kasturi Pananjady contributed to this report.

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The Associated Press Health and Science Department receives support from the Robert Wood Johnson Foundation. The AP is solely responsible for all content.

The Canadian Press. All rights reserved.

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Scientists show how sperm and egg come together like a key in a lock

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How a sperm and egg fuse together has long been a mystery.

New research by scientists in Austria provides tantalizing clues, showing fertilization works like a lock and key across the animal kingdom, from fish to people.

“We discovered this mechanism that’s really fundamental across all vertebrates as far as we can tell,” said co-author Andrea Pauli at the Research Institute of Molecular Pathology in Vienna.

The team found that three proteins on the sperm join to form a sort of key that unlocks the egg, allowing the sperm to attach. Their findings, drawn from studies in zebrafish, mice, and human cells, show how this process has persisted over millions of years of evolution. Results were published Thursday in the journal Cell.

Scientists had previously known about two proteins, one on the surface of the sperm and another on the egg’s membrane. Working with international collaborators, Pauli’s lab used Google DeepMind’s artificial intelligence tool AlphaFold — whose developers were awarded a Nobel Prize earlier this month — to help them identify a new protein that allows the first molecular connection between sperm and egg. They also demonstrated how it functions in living things.

It wasn’t previously known how the proteins “worked together as a team in order to allow sperm and egg to recognize each other,” Pauli said.

Scientists still don’t know how the sperm actually gets inside the egg after it attaches and hope to delve into that next.

Eventually, Pauli said, such work could help other scientists understand infertility better or develop new birth control methods.

The work provides targets for the development of male contraceptives in particular, said David Greenstein, a genetics and cell biology expert at the University of Minnesota who was not involved in the study.

The latest study “also underscores the importance of this year’s Nobel Prize in chemistry,” he said in an email.

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The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content.

The Canadian Press. All rights reserved.

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Turn Your Wife Into Your Personal Sex Kitten

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