Tuesday, September 26, 2023

In the mirror....

Discovering as an older adult that you are Asperger's: You feel fine most of the time. But you don't know if that's because you've dealt with it, or if you've buried it.  



Tuesday, September 19, 2023

History of obesity. In Denmark.

“The origins of the obesity epidemic may be further back than we thought”

A recently published paper concluded that the rise of obesity began earlier than conventionally assumed. (See article summarizing study: The Origins of Obesity in Science.)

"This study revealed that continuous steady increases since the interwar period in the upper percentiles of the BMI distribution preceded the obesity epidemic, with an almost similar pattern in the children and the young men." (published paper)

I agree with some of the criticisms of the study and conclusions, such as population sample=1 (Denmark). Is this trend replicated in other countries? 

Another comment from a biostatistician that “slow and steady increases in obesity don’t necessarily indicate an earlier onset of the epidemic [of obesity]”. A proper data pool for that would require data before 1930’s. 

A statement from the original published paper confirms my observation over the years traveling this country: “The acceleration of the obesity epidemic has been stronger in rural and provincial areas than in densely populated urban areas, which was seen already in the beginning of the rise of prevalence in obesity in Danish young men during the 1960s.”

And, like anything involving human behavior, the contributions are multifactorial.

The high prevalence of obesity in people of all ages in rural Ohio was a shock when I moved there in late 2001. 

During a conversation on this subject with a man (late 20’s) that I was training, he commented that as agriculture became industrialized it required less physical activity by all family members. However, the culture of food and eating amongst farm families remained the same: calorically dense food, especially fats, and large portions during meals. 

Consequently, while activity levels decreased, the energy balance became very skewed towards a positive high caloric net balance. Which, over time, results in increased body mass.  

We can see an eventual similar trend in urban areas over time, albeit slower. My hypothesis is that most rural families used to grow their own food, meat and vegetables/grains. So they had an almost guaranteed supply of food and energy. 

Urban people had to purchase all their food (and still do). Purchasing power for food was based on their incomes and other debts (rent, etc). History worldwide has shown that wealthy people always have had almost unrestricted access to food. For many centuries, being overweight was a social sign of being affluent. 

It was only during the last half century when increasingly more people began moving from rural to urban communities. Industrial agriculture and food processing caused a large shift in the nutritional content and availability of food, and the culture of food. 

As Gary said that day, “People of Ohio still love their corn and pork, and there is plenty of it here. But now everyone has desk and ‘standing still’ jobs. And the kids don’t play as much; they’re glued to their phones and video games.”

Saturday, September 09, 2023

The dog genes tell stories

A fantastic genome study of 2000 canids tells a 'story' of selective dog breeding over time and space. 

"Incorporating 20 × data from 1987 individuals, including 1611 dogs (321 breeds), 309 village dogs, 63 wolves, and four coyotes, we identify genomic variation across the canid family, setting the stage for detailed studies of domestication, behavior, morphology, disease susceptibility, and genome architecture and function." (Also included revisions of pre-existing data from the earlier Boxer and German Shepard genome sets)

A highlight of this is a  "worldwide sampling of village dogs and niche populations, both of which fall outside the umbrella of pure or mixed breed dogs". I'm wondering if the Viking Dogs of Dublin project might have enough genome data of discovered remains to compare with this dataset. It would be fascinating to compare this snapshot from the Midieval dogs. 

The wolf data came from 57 wolves from differing geographical areas. I'm a bit disappointed in the limited (4) coyote individuals. Especially given the admixture events in coyotes with dogs and wolves. 

"Analysis of mitochondrial data reveals surprisingly few haplotypes in dogs, with greater observed variation in wild canids." What this means is a limited pool of wild canids from which our modern breeds were first selected for domestication. 

The analyses included many comparisons: "The major clades [primary groups] are made up of breeds sharing occupation, morphological traits, and/or geographic origin. Within the larger clades, additional structure can be found with subclades (97% average cluster confidence) displaying a second layer of similarity. In some cases, clade structure reflects the relationships among breed varieties."

It revealed many surprises. e.g. in a closely related group, the Am Eskimo dog and Japanese Spitz were created from the German Spitz. 

What this analysis does is reveal the history of breeding (mostly via human selection), and results, by crossing within and between clades.  e.g. breeds within the terrier clades (breeds sharing terrier traits) as well as between the terriers and the Mastiff clades. 

"For instance, there is a long-standing history of terrier and mastiff-type breeds being crossed in the mid-1800s to form multiple bull terrier- and terrier-like breeds such as the Staffordshire Bull Terrier and the Boston Terrier. There is also excessive sharing between the Mastiff clade and the Retriever clade that has not been observed in previous phylogenies, but suggests recent admixture between these breeds or their ancestors. German Shepherd Dogs and related breeds show the largest number of admixture events with independent breeds from multiple clades. German Shepherd Dogs, specifically, have sharing values greater than 95% of background levels with 29 breeds from 13 clades and three of the non-clade breeds. !!Breeds within the German Shepherd clade are the only ones showing significant levels of haplotype sharing with wolves.!!"

All dog breeds involve some level of inbreeding (at individual and population level). That level can be estimated by comparing sets of DNA variants of gene alleles (the two versions of a gene on the same chromosome) that tend to be inherited together (haplotypes).  When two alleles are identical, they are said to be homozygous. When different, they are heterozygous. Runs of homozygosity (ROH) in an individual genome results from the inheritance of two copies of an ancestral haplotype in that individual. Thus they are homozygous by descent.  

The measure of individual or population level inbreeding is the estimated proportion of a genome that is in ROH.  "For all dog breeds, selection has involved some level of inbreeding and this has resulted in a wide range in ROH across breeds." The analyses maps proportions of historical levels of inbreeding of breed groups, breeds and sub-breeds within the groups, and compares them to feral/wild canids, including wolf and coyote. 

As you can surmise, selective inbreeding results in high levels of ROH (because humans select for specific behavioral or physical traits and interbreed to retain them). The wolf, coyote, and wild/feral canids, have the lowest level of inbreeding (coyote has the lowest of all, but based on only two individuals). 

The study also included analysis of size and breed diversity, as well as structural gene variation. The latter "plays a variety of roles in genome evolution, adaptation, and gene expression." It also searched for signatures of selection among major breed groups. 

Of major importance is the analysis of mitochondrial genomes. Keep in mind that mitochondrial genome is inherited only from the female line throughout historical descent. "Across the 1933 individuals, only 887 unique mitochondrial sequences (haplotypes) were observed. The most common was present in 52 individuals, and the 12 most common haplotypes were observed in 20% of samples (393/1933 individuals)." What this means is a limited number of female individuals form the basis of dog breeds. Would be interesting to know how many of those sets are completely or mostly associated with wolf source.

Analyses extended to causal homozygous (two copies of an allele on a chromosome) genotypes for autosomal recessive diseases, risk factors, or traits and their associated genes. As we  know, long lines of inbreeding often lead to increased recessive diseases and traits. Interestingly, this information has also been compared to diseases in humans for a few decades, providing insight to diseases in both human and canine.

A conclusion many of us already knew: "German Shepherd Dogs and related breeds show the highest allele sharing with independent breeds from multiple clades." 

 Compassionate Eye Foundation / David Leahy Getty Images 


Sunday, September 03, 2023

Coming out of the closet. Finally.

I know I'm not alone in this. So many ghosts linger in the void who didn't know, didn't have a word for it. They, we, were strangers living in a strange land. 

I and a close friend from long ago used to call it "The Outliers' Club". We didn't fit into the belly of the area under the curve called 'Normal.' In retrospect, I had many friends like that. My father was like that. They were 'different' (sometimes I used the term "abby-normal"), but not from me. We were different, to various degrees, from most of the multitudes that occupied life around us. 

This realization wasn't obvious to me for too long in my life, although as a teenager I felt something about me was different. Or everyone else was different. I just didn't understand it nor other people. After graduation I moved to live in the Maine woods. It was quiet: being surrounded by the natural world (which I felt more at home in), my books and music, apart from the trappings of society. I could enter and leave it when I wanted. Keeping my distance from people, physically and emotionally, I was able to form my own reality closer to my own preference. The solitude was, and always has been, my friend. My silence was comfortable. Most of my expression, when the urge came, went into writing. 

After my daughter was born I forced myself to integrate and participate more in society for her sake. I fell into a relationship with a man who was kind, patient and undemanding of conformity (mostly). I sought to organize and channel all my weird thoughts and ideas into a productive university education and profession. I followed my strongest interests: the living sciences. All of them, at the micro- and macroscopic level. 

How it started

My first realization of problems was with numbers, and one I hid as best as I could for many decades. I had the equivalent of dyslexia with numbers. In high school, I failed algebra twice. The third time, the teacher recognized I had issues with ordering/reading/thinking in numbers, but not arithmetic concepts. He patiently reassured me I wasn't stupid and tutored me in how to negotiate the world of numbers. I had to write all numbers and equations down on paper, methodically solve equations step by step, and slow down to avoid increasing anxiety. His recommendation of separating long strings of numbers into groups of three by using dashes is still helpful.

I had nightmares (still do) for as long as I can remember of being unable to correctly dial phone numbers, transposing the numbers over and over. It was worse when in those dreams a person was in distress and I was trying to call for help. I would wake up in panic attacks. All through university and my years in academia, this was a deficit that I managed to hide well. Until I learned later (after I retired) that several scientists, even mathematicians, also had dyscalculia. 

Back in high school, I don't think there was a name for this. I remember how much relief I felt when I learned about dyscalculia as an adult in my 50's. My 'stupidity' finally had a name and I didn't feel stupid about it anymore. Regardless, I didn't reveal it to anyone, even my family, until a few years ago. I came out of that 'closet' intact. 

Most of my childhood, teen years and early adulthood, I was a person of few words. A few traumatic events resulted in total silence: I literally could not talk. It was like my throat was paralyzed. I remember them vividly to this day. When I was 17, my mother sent me to a therapist in the city, where she found me a room at the Y to stay for a few days. I think that being away from the rest of the family provided me the space I needed to deal with a private event. But, even now when I am angry or distressed, I freeze up and I want to be alone.

On the other hand, because my interests vary widely, even outside of my academic career, I now enjoy talking about topics in history, philosophy and science. My father was similar, which I didn't acknowledge until much later. He was well read and versed in physics, chemistry, all the life sciences, music, history, philosophy, and  languages. Just not other people (unless they were notables in history, science or music). Oddly, he was also interested in poetry, and could recite poems verbatum from memory. 

After I realized we were alike, we often had long phone conversations along these many topics. Likewise, my conversations with others were also on topics that interested me. I had no interest in meaningless chats and especially gossip. I still don't, but try my best to engage in a limited amount of it for social ease. However, I sometimes realize that I am talking too much about things other people have little or no interest. 

Once, my date and I were sitting around a campfire with other people, and I rambled on too long about a recent discovery that red fire ant queens clone themselves. My date quickly interrupted a question from another person by saying aloud, "You don't want to ask her!" I didn't then and still don't catch sarcasm. 

I still struggle with picking up facial expressions of others when my discussions have gone on too long. Or when I mention aloud data points or observations in my current thoughts. I see blank stares and realize they have no idea what I'm talking about. 

What higher education did for me was learning to organize the constant barrage of thoughts in my head into a cohesive stream of consciousness that made sense, and that I could use to form questions and answers. They were always there; I just didn't know what to do with them. It was like the universe opened up and invited me in. 

A former close male friend from forty years ago asked me why I chose to be a biologist; he never expected that. "It was always there in me. I just didn't know what to do with all of it. 'I can't help it; I was drawn this way.'" (Referenced from Jessica in the movie Who Framed Roger Rabbit.)

Hypersensitivities

I exhibited negative reactions to certain stimuli during early childhood, not realizing that I had sensory hypersensitivities until my early teens. I abhorred loud noises and certain sounds, running away from loud parades, covering my ears and humming with sirens, and having to wear ear muffs during fireworks. Some sounds (triggers) make my head explode (loud mufflers, engine breaking, snoring, incessant dog barking, loud chatting, screaming children, leaf blowers, and, ironically, the German language). Noise cancelling earplugs have been a godsend. 

Certain smells also bothered me, to the point of physical distress. Anything perfumed like most laundry and bathing soap, but especially body perfumes, made my head pound and being nauseous. Much to my father's chagrin, limburger cheese did the same. I would run up into my bedroom and shove clothes or bedding under the door to stop the smell from entering.  I can smell the weather changes in the air. 

My department on the 13th floor in my last position dubbed me the 'canary'. A common issue was poor air cleaning/circulation. I could sense the sour odor in the restroom across from my lab of backed up waste water in the building long before anyone else could. And the metallic smell of industrial air on our floor that escaped the air cleaners on top of the building. After realizing I had a heightened sense of smell, the office laughed when I called to alert them. 

I also had, and still have, an aversion to crowds. Malls gave me anxiety, sometimes panic attacks and I'd get dizzy and can't breath. A visit to a mall to find work suits decades ago was my first real awareness of this. It was crowded and I felt dizzy and nauseous, having to lean against a wall to keep from collapsing. My body screamed "Escape!".

My personal space is bigger than most and I'm not a huggy person. Except for my immediate family, I feel like shrinking into myself; stiffening and becoming invisible when hugs are attempted. I avoid isles in stores with a lot of people; getting in and get out as fast as possible (and I hate shopping.) When I am in amongst groups of people, I try to move to the edges and 'lurk'. My whole life has been lurking on the edges.

While visiting a friend in Manhattan (shortly after 9/11), he took me to Time Square. It was a disaster. With a long-standing sensitivity to light, the crowds, noise and flashing lights prompted a panic attack. Only many years later did I learn that my responses to such stimuli was really that: a panic attack. Otherwise, I only knew one thing: fight or flight, and I had to get out.

Lack of social graces

In grad school I became aware that I had trouble speaking to groups of people. I took a technical writing class (two, in fact) that included presentations. I forced myself to learn how to quiet the animal inside to speak clearly and eloquently. As a faculty member at three academic universities, I learned to mingle and communicate better. My first years as a researcher required giving presentations at conferences, which became easier. My sister-in-law took me shopping to help choose proper suits for me. I had no sense of fashion (still don't). 

During those early years I also had to learn about sensitivities with other people. Unlike many (most?) people in the autism spectrum, I engage with others by strong eye contact. If I don't, I fumble in 'reading' people. (I also have significant hearing loss in one ear from childhood illnesses. I read lips to fill in blanks that I can't hear.)  Apparently this distresses some people. While in New York City, my friend strongly advised me to look down when amongst strangers, especially on the street. I still don't understand why, but it bothers people. 

I tend to be blunt and honest to a fault. Apparently some people can't handle that, either. A student worker told me almost in tears that I am "intimidating". The department head diplomatically told me she would rather I did not attend a meeting with others discussing my research budget. She would serve in my stead. That was a hammer that made me realize I needed to learn how to talk to other people with more sensitivity. (Ironically, years later at a different university and lab, I was asked by a colleague to coach him on how to talk to his all-female lab staff so they wouldn't cry.)

Despite that I occasionally joined colleagues in the lunch room or for coffee, I was branded as being "unfriendly and anti-social" in the departments. I avoided volunteering for committees (they were a waste of my time) and hardly ever attended social and holiday functions. Apparently this behavior was unacceptable, even jeopardized promotions during more than half of my career. Ironically, a colleague, who became a good friend, chastised other department members during one of those meetings, commenting that I am not unfriendly or anti-social; "She's just careful about who she chooses as friends and likes her privacy."

All those decades, and through failed intimate relationships, I never stopped being a stranger in a strange land and asking myself "What's wrong with me?". My mother used to yell at me, even as an adult, "You're just like your father!". It wasn't until several years before my father passed away, and I learned I had Asperger's Syndrome, did I understand my father's weird quirks and his lack of social graces. I was much like my father, who probably also was Asperger's. But I learned to understand and adjust better than he, even if some of it requires pretending.

I was teased (still am) about being a bit more OCD than the normal person. I managed my labs and office tightly and was referred to as the 'Lab Nazi' in one department. Another time (different university), the department head mentioned in an introduction to a visiting presenter that our lab was the cleanest in the department. I wanted to shrink during the laughter after that. 

My fortune was working with a MD/PhD in neuropathology who is very ADHD with no apologies to anyone. I would steer him back to finish his sentences when he often went off tangent. We worked together very well appreciating the complementation of our strengths. I was glad I could confide in and discuss my recent Asperger's diagnosis with him. He assured me I've already adapted well, and will continue to. "Learn to appreciate who and what you are. Don't let anyone tell you differently."

I also realized that most of my closer friends, at least in adulthood, were also on the spectrum. I think we tend to gravitate to those who are like us. My closest friend was a male 15 years younger, yet we thoroughly knew each other, possibly better than we knew ourselves. We complemented each other intellectually. Because he also was graduate of the life sciences, we shared thoughts and ideas and collaborated in business during my hiatus from academia. His mind was very linear, whereas I think in systems and patterns, complementing each other in our pursuits. I also helped him adjust with his issues by suggesting he observe and mimic other people in social interactions. Unfortunately, his wild mood swings challenged our relationship more than once. After over a decade of close friendship, it completely fell apart. But I still very much miss his friendship.

-------

It's now 16 years after learning why I have always felt like a stranger. Because I have feared the stereotyping and stigma by other people, especially during my academic career but also my own family, that knowledge has been buried. No headstone, no obituary, no memorial; just buried in an unmarked grave. I even refused to learn more about being a functional adult on the spectrum. The diagnosis of being Asperger's has explained most of my oddities, and I still learn to adapt. 

Discovering as an adult that you are Asperger's is like you feel fine most of the time. But you don't know if that because you've dealt with it, or you've buried it.

Recently I discovered a local friend who is also neurodivergent. And she has an autistic son. She recognized my neurodivergence quickly without any prompts from me. She is also an advocate for neurodiversity. It was a relief for me to finally be accepted for what I am in a long time. We have talked long about how we adapt and about the lack of awareness of neurodivergent people, young and old. She has given me the courage to take steps and "come out of the closet", especially to my remaining family, my sister and daughter. I mentioned once that it would be easier to come out and tell people I'm gay (if I was gay). 

But she and Phil are right: I need to accept and appreciate who I am. Keeping this secret is exhausting. 

This is MY reality. Welcome to it!

Secrets in a Strange Land

 "The secret always finds its way out, if not in words, then somatically, and most often in a way that it can be dealt with and helped in a straightforward manner. [Usually] So what does the woman do when she finds the secret leaking out? She runs after it with great expenditure of energy. She beats, bundles, and burrows it back down into the dead zone again, and builds larger defenses. She calls inner guardians and ego defenders to build more doors, more walls. The woman leans against her latest psychic tomb, sweating blood and beathing like a locomotive. 

A woman who carries a secret is an exhausted woman. Secrets cause a person to become haunted."

- excerpt from Women Who Run with Wolves, by Clarissa Pinkola Estes