Friendly Dogs and Human Genetics

A 2017 post from A Country Doctor Reads (retired blog)

The reason dogs are friendlier than wolves appears to be a genetic one, according to an article in The New York Times:

“A group of scientists from Princeton, Oregon State University and other institutions combined behavioral and genetic studies of 16 dogs and eight captive, socialized wolves to pin down changes in two genes on a region of one chromosome that were associated with hyperfriendliness in dogs. The two genes, GTF2I and GTF2IRD1, are also associated with Williams-Beuren syndrome in humans.”

I found this interesting, because of my general love for dogs and my heartfelt memories of the three extremely affable beagles I have lived with over the years. Also, I know a boy, now in his early teens, with Williams Syndrome. I wrote about him in my first year of blogging in a peace called “All God’s Children”:

“Joey didn’t reach his developmental milestones; his eyes didn’t seem right and he had an unusual, broad grin, which he always flashed. By age two he was diagnosed with Williams Syndrome, a rare genetic disorder that affects one in 7,500 newborns.

Joey, in typical fashion for Williams Syndrome children, is extremely gregarious, even with strangers. He is a favorite with the nurses. He isn’t potty trained, cannot make three word sentences, and cannot make age-appropriate drawings.

His parents elected to give him the 4-6 year-old shots yesterday, and he protested loudly. Immediately afterward, he wanted to kiss the nurses.”

My 2008 piece concludes:

“We must all remember that our children are only loaned to us. We have a natural desire to see them grow up to be healthy and happy, and more often than not I think we hope they will be a lot like us. Our task and privilege as their parents is to see them for who they are, and help them reach their potential.

A youngster with Down’s or Williams Syndrome can be more capable of receiving and returning the love of their parents than a child without genetic challenges, and a healthy child can be killed in a freak accident in the matter of seconds. The wisest parents cannot protect their children from making their own mistakes, and even the elderly often have to grieve the loss of a child.”

Eminence Based Medicine

I came across a post on a Swedish primary doctor Facebook page that mentioned a word I didn’t know existed. Eminence Based Medicine, at least according to some, is when there is no evidence to base your treatment plan on and you instead choose to trust experts. I guess in some cases, if we’re high enough or long enough into our careers, we might even venture to assume on our own what the best course of action is. “Expert opinion” is often used these days, but it doesn’t have the aura of eminence…

Intrigued by the expression itself, I started researching how new Eminence Based Medicine is, since it was all new to me. I found to my surprise that it was coined by Isaacs and Fitzgerald in 1999. They wrote:

Clinical decisions should, as far as possible, be evidence based. So runs the current clinical dogma. We are urged to lump all the relevant randomised controlled trials into one giant meta-analysis and come out with a combined odds ratio for all decisions. Physicians, surgeons, nurses are doing it; soon even the lawyers will be using evidence based practice. But what if there is no evidence on which to base a clinical decision?

They introduced a bunch of other terms in the same vein as Eminence Based. Some were more comical than others. So here is a table from that 1999 article:

https://pmc.ncbi.nlm.nih.gov/articles/PMC28313/

From a Tattered Merck Manual to All the World’s Knowledge on my Phone

A clinical encounter from 1980 recalled in a 2010 blog post and just think how far we have come since then.

We certainly live in the knowledge economy, a world where having information and knowing how to use it is the key to success in just about any field.

And there’s so much more of it now. I remember having a book when my children were young titled something like encyclopedia of trivia. Just one thin volume? That’s unfathomable now.

Back in 1980 in one of my first rotations in my Swedish internship, which was a 20 or 21 month affair, I was a prison doctor in a sparsely furnished room with only two books on the bookshelf. One of them was a well read older Merck Manual which helped me make a diagnosis that seemed life-changing to one of the inmates.

I now can check Google AI, Epocrates, Up-to-Date, the National Library of Medicine and countless other websites from my iPhone 13 mini, which fits easily in my left front pant pocket. If I’m looking for the exact name or the exact treatment or the main criteria for any diagnosis, it is literally at my fingertips and it has been for several years so I think I am part of a groundbreaking generation of physicians who went from looking things up in a book to checking them out on my personal iPhone.

It’s a little bit like my grandfather‘s experience with cars, having been the first one in his village to drive one, or my parents experience with charter flights to the Mediterranean. Once exotic, later commonplace inventions changed the world in less than a generation in the last 100 years.

Snap Diagnosis

Forever Chemicals in my Seltzer??

Im quirky in several ways. One is that I have an aversion to drinking water. It gives me heartburn (I have a large hiatal hernia with spontaneous reflux, even in the standing position and Barrett’s esophagus on top of that, so you would think plain water would feel soothing going down). So I have had this habit for years to drink flavored seltzer because that agrees perfectly with me.

Every so often I puzzle about what the flavors might actually be. Essences, the term used on the labels, doesn’t explain at all what’s in my favorite Mandarin Polar seltzer.

So, the other day I started doing some research.

On the website TastingTable, I read:

The FDA states “natural flavors in sparkling water can be created using natural ingredients from essential oils, extracts, distillates or other products derived from fruits, vegetables, spices, herbs, barks, roots, and other organic substances.'” The Wall Street Journal’s research showed that the ‘essence’ in any given flavored seltzer is the same natural chemical used in other products, such as shampoo or ice pops. Taking the skin of a fruit, for example, and heating it to produce vapors that are then infused into the beverage.

Most companies are tight-lipped about their processing techniques. LaCroix’s website says “the flavors are derived from the natural essence oil extracted from the fruit named on our can – no sugars or artificial ingredients contained in or added to these extracted flavors.” However, some seltzer producers, like Spindrift, use alternative methods that actually use real fruit juice. Sip Trend claims that different flavors, other than the ones actually named, are occasionally used: a lemon-flavored seltzer might actually be infused with limes or even vegetables.

FOOD&WINE had more worrisome information in their article Are ‘Forever Chemicals’ In Your Favorite Sparkling Water? Here’s What to Know:

PFAS, short for per- and poly-fluoroalkyl substances, are chemicals designed to withstand water, oil, grease, and heat, which may sound ideal for food packaging. Until you learn that these chemicals take at least a century to break down in the human body, and much longer in our environment, and like many man-made substances approved for extensive use, they’re much less safe than we thought.

Linked to cancer, autoimmune disease, thyroid problems, and more health issues, PFAS’ toxicity is worrying, and still being studied. And unfortunately, PFAS are prevalent throughout our environment, from the seafood we eat to the water we drink.

The article linked to Consumer Reports, where I read this:

The federal government has issued only voluntary guidance for PFAS, saying the combined amounts for two specific PFAS compounds should be below 70 parts per trillion. A few states have set lower limits, of 12 to 20 ppt, according to American Water Works, an industry group. The International Bottled Water Association, another group, says that it supports federal limits for PFAS and that bottled water should have PFAS levels below 5 ppt for any single compound and 10 ppt for more than one. Some experts say the cutoff for total PFAS levels should be even lower, 1 ppt.

And in this Consumer Reports piece I found the number I was looking for: My favorite seltzer has the next highest forever chemical content of all tested seltzers.

My latest research has indicated that Schweppes club soda, which I like the taste of, has a PFAS level below 1 ppt, so I guess that will be my thirst quencher this summer.

Medical Jobs that AI is Unlikely to Eliminate

My news sources (you can’t just say “the news” anymore, since everyone can choose what angle/bias/viewpoint/political spin they want to believe) are predicting that AI will very quickly replace midlevel professionals. Even in healthcare, areas like radiology seem to be pretty vulnerable to the advancing non-human capabilities.

In my practice I see many elderly people who are unable to use technology to interact with professionals outside their own homes. House calls are appreciated by patients and caregivers and give me as a physician a clearer picture of what my patients lives are like. And I hear every day how people have qualified for in-home help but the agencies don’t have enough staff to provide it. So I believe home health nurses and home health aides can feel fairly secure for quite a while.

And even if a doctor sees a patient in an office setting, getting a clear medical history is something not easily automated because of the way older people communicate and describe things. And when it comes to communicating a diagnosis and treatment options while also exploring each patient’s ultimate life goals seems nearly impossible to entrust to AI in my view. And the more diagnoses a patient has, the more judgment calls need to be made about where to set the priority, because what the patient primarily wants may not be exactly what the treatment algorithms would suggest.

There are many interesting examples in the literature of how two different doctors can prescribe the same medication and get totally different outcomes. This boils down to the personality and style of the doctor. Maybe you could teach AI what usually works, but patients need to see the face and know the name of their provider and it would be dishonest and immoral to make up fake names for AI “doctors“ communicating with patients.

As a side issue, liability in medicine has been a big concern, and I just read in my newsfeed today that in some places manufacturers of driverless cars will be held liable for traffic violations and presumably personal injury cases. I don’t believe the issue of liability with AI involvement in patient care is anywhere near settled.


I just realized none of the posts show on an iPad or a computer, but they do show on an iPhone. WordPress is working on this. In the meantime, please visit my Substack.

 

 

Osler said “Listen to your patient, he is telling you the diagnosis”. Duvefelt says “Listen to your patient, he is telling you what kind of doctor he needs you to be”.

 

BOOKS BY HANS DUVEFELT, MD

CONDITIONS, Chapter 1: An Old, New Diagnosis

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