July 23, 2017

Friendly Dogs and Human Genetics

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.”

June 25, 2017

Could an Alzheimer’s gene make you smarter, and a sickle cell gene make you healthier?

I just read a fascinating article in The New York Times about how genes we think of as bad sometimes do good things too:

“Consider the border between Finland and Russia, where there’s a sharp gradient in the prevalence of autoimmune disorders like celiac disease and Type 1 diabetes. As I’ve pointed out before, these conditions have become worrisomely common in Finland in recent decades, but are between one-fifth and one-sixth as common on the Russian side, despite the fact that the Russians are just as genetically predisposed to developing them.

What protects the Russians from their own genetic inheritance? Or better phrased, what makes the Finns vulnerable?

Finnish scientists think that exposure to a particular community of microbes — one that more resembles the microbiota of our less hygienic past — prevents the diseases from emerging in Russia. That’s important because at least some of the gene variants associated with autoimmune disease are probably useful; they most likely helped us battle infections in the past.

So instead of rewriting our genetic code, a better approach might be to change the interplay between our genes and environment — in this case by altering the microbes we encounter.”

https://www.nytimes.com/2017/06/17/opinion/sunday/crispr-upside-of-bad-genes.html?smprod=nytcore-ipad&smid=nytcore-ipad-share

May 8, 2017

Salt Isn’t Doing What We Thought

An entertaining article in The New York Times explains that, according to studies on Russian Cosmonauts, a high salt diet makes us hungry, not thirsty. Salt also helps us burn fat and produce our own water, thereby also increasing urine output, just like camels in the desert.

https://www.nytimes.com/2017/05/08/health/salt-health-effects.html?smprod=nytcore-ipad&smid=nytcore-ipad-share

April 26, 2017

And How Long Will You Be Staying, Doctor?

A family physician writes in The New England Journal of Medicine about being asked, again and again, “And how long will you be staying, Doctor?”

“Caring for entire families helps me understand my community. I know that a patient is stressed because her son struggles with alcoholism: I’ve admitted him several times with pancreatitis. I know another patient can’t focus on her diabetes because she is still grieving her mother’s death: for years she wheeled her mother into my clinic for monthly appointments. When a teenager returns from a first year at college and asks for birth control, I remember her mother crying in my office months earlier, overwhelmed with pride and worry at having her first baby move so far away.
The patients weary of explaining all this — their tragedies, triumphs, and transformations — to a new face every few years, no matter how bright or kind that new face is. Seven years in, I understand why my patients would be disappointed if I left. As their doctor, I would be, too.”

http://www.nejm.org/doi/full/10.1056/NEJMp1613899

April 25, 2017

Babylon: Smartphone App, Smarter than Doctors?

Babylon is announcing an investment of £50m to build what it claims will be the world’s most advanced artificial intelligence healthcare platform.

Its chief executive Ali Parsa says it will put expert health advice in the hands of smartphone users around the world. “Our scientists have little doubt that our AI will soon diagnose and predict personal health better than doctors,” he says.

But he is quick to stress that this will be a help to doctors, rather than a replacement: “No machine can put its hand on your shoulder and say trust me I’m going to take care of you.”

Babylon puts a doctor in the machine_95767717_502f750c-0cbc-48fe-9e44-462e538cc6a6.jpgBritish firm Babylon promises to build the perfect doctor using machine learning.
(From the BBC)

April 22, 2017

Can Trazodone Stop Dementia?

Two drugs, one old and one new, appear to stop the progression of prion disease in mice. This suggests that the old antidepressant-turned-sleeping pill trazodone could do the same for humans:

“Thus, in prion-diseased mice, both trazodone and dibenzoylmethane treatment restored memory deficits, abrogated development of neurological signs, prevented neurodegeneration and significantly prolonged survival. In tauopathy-frontotemporal dementia mice, both drugs were neuroprotective, rescued memory deficits and reduced hippocampal atrophy. Further, trazodone reduced p-tau burden. These compounds therefore represent potential new disease-modifying treatments for dementia. Trazodone in particular, a licensed drug, should now be tested in clinical trials in patients.”

https://academic.oup.com/brain/article/doi/10.1093/brain/awx074/3737867/Repurposed-drugs-targeting-eIF2-P-mediated

April 15, 2017

A Doctor’s Healing Presence

This week’s Saturday Essay in The New York Times is about the relationship between a woman with ALS and her Syrian doctor:

“I knew I was lucky. Motor neuron disease is incurable and most people who have it die within a year or two, maybe five. But I was still alive. Soldiering on.

So when my doctor said I was fine, he meant he had discovered nothing new and alarming during this exam. I was holding steady. I wasn’t fine but I wasn’t dying, either.

We met every three months. The regularity of these appointments, and the close monitoring that the schedule suggested, should have terrified me. Instead, it made me feel safe. As time passed, I realized it wasn’t just the monitoring that brought me comfort but the doctor himself.”

https://www.nytimes.com/2017/04/14/style/modern-love-syrian-doctor-empathy-motor-neuron-disease.html?smprod=nytcore-ipad&smid=nytcore-ipad-share

March 7, 2017

Acupuncture Effective for Carpal Tunnel Syndrome

The New York Times pointed me to a study in Brain that shows the effectiveness of acupuncture for patients with carpal tunnel syndrome. I see many people getting a different kind of needling – with steroids, but this is intriguing:

Rewiring the primary somatosensory cortex in carpal tunnel syndrome with acupuncture | Brain | Oxford Academic

https://academic.oup.com/brain/article-abstract/doi/10.1093/brain/awx015/3058778/Rewiring-the-primary-somatosensory-cortex-in?redirectedFrom=fulltext

March 5, 2017

$20 and an Algorithm Could Save Your Teen From a Heart Attack

Baseline EKGs are considered poor predictors of heart attacks. This article in The Wall Street Journal says they are not, if coupled with the Seattle criteria.

https://www.wsj.com/articles/20-and-an-algorithm-could-save-your-teen-from-a-heart-attack-1488585696

March 2, 2017

Patients from away

Every year I get at least half a dozen new patients who are “from away”, as we say in Maine. Obviously, I’m “from away” myself. I chose to come here after once driving up from Massachusetts, where I had been an exchange student, and seeing the untouched vastness and the slower pace of life in rural Maine.

Until a few years ago, these new patients were all people who had fallen in love with Maine by vacationing here, or they had come here because of job opportunities.

Lately, I have puzzled over why some of my new patients have chosen to move here; many of them have serious health problems and disabilities, they have never visited Maine before (or seen a Maine winter) and they don’t know a soul here.

A few have hinted about the lower cost of living, and I didn’t really think very hard about that until I saw an article in the Wall Street Journal about a baby boomer in California who moved to an Iowa town of 700 just to be able to survive on the resources she had left to live out her life on.

https://www.wsj.com/articles/with-15-left-in-the-bank-a-baby-boomer-makes-peace-with-less-1487259894