Scientific Scribbles

The voice of UniMelb Science Communication students

A harmless mutation: the stub thumb.

It’s not necessarily something you might think about often, the shape of a person’s thumb. For me it has always been one of the first things I notice. All throughout school I would scour my classrooms for anyone with opposable appendages that were out of the ordinary.

Have you ever seen an “orange” thumb?

Six-year-old me didn’t care so much for how she was different, all she knew was that some people at school had an “orange” thumb, like her, and others had “banana” thumbs. It was only years later that I found others with “orange” thumbs and began to wonder, why are my thumbs so strange?

Well, it turns out that I was born with a condition called brachydactyly type D (or BDD). Sometimes also called the stub thumb, it’s where the end bones of both of my thumbs are about half the size of a normal thumb’s, and the nail beds are wide. It’s also the most common form of brachydactyly – about 3% of the world’s population have the condition.

The odd one out in the family – my brother doesn’t share my mutation (author’s own image)

What does having a stub thumb mean?

Well, back when fortune tellers started practicing palmistry it also meant that you were accused of having a temper and being callous, earning the name “murderer’s thumbs.” Which is pretty cool, unless you were accused of a crime because of it.

As far as modern science has found, it’s actually a harmless mutation (if you count out the teasing endured in school), and doesn’t serve any evolutionary purpose. Or relate to a person’s temperament. BDD is just… kind of weird.

For me, my odd thumb means that I can find some ordinary tasks difficult. Tapping out a message on my phone? I have to type with my index finger because the pad of my thumb is the size of 2×3 of the letter keys on a large keyboard. Holding a bowling ball? It’s like trying to fit into your jeans after Christmas.

A couple of weeks ago when was trying to use an electric carver to cut a roast. It required a button on the underside and one of the top of the handle to be held at the same time. Pretty easy to do right? No complicated manoeuvres or novel length manuals. Turns out my thumb was just a little too short to be able to reach both.

Why do people have brachydactyly?

Well, brachydactyly is what is called an autosomal allele – it’s a gene variation that only occurs on chromosomes (the things that contain our DNA) which are sex chromosomes (the ones that vary between the sexes). This means that the allele can be inherited or mutated regardless of a child’s gender. However, there is a bit difference between sexes with slightly more observed cases occurring in females. One or more of the bones in a person’s fingers (or toes) is about half the length it would usually be, causing anything between minor inconvenience to requiring surgery to improve function of the hand.

The types of brachydactyly (meaning short digits). Source: Samia A Temtamy; Mona S Aglan via Wikimedia Commons

Maybe the next time you find your mind wondering sitting in a public space, have a look around – not every thumb is what you might expect.

 


How Slime Poisoned the Earth (but made it OK for us)

Most of us have some knowledge that the Earth was once a ball of hot molten lava which then cooled to form the rocky little planet we know and love today. While that’s true as far as it goes, there is certainly a whole lot more detail missing from that picture.

A bad day on the early Earth. Image credit NASA via Flickr

There have been some pretty big changes to the environment over the Earth’s history. One part of the environment we take for granted today is the air we breath. It wasn’t always so full of life sustaining oxygen.

But oxygen is one of the most reactive elements and in the fiery cauldron of that early molten Earth most of the oxygen would have quickly combined with other elements and been locked up to form things like CO2. Something had to happen to release it.

 

Life finds a way

That thing that happened was life. Early life did fairly well without oxygen. It used other elements as sources of energy and in most cases that microbial life would have found oxygen deadly. Oxygen was to most early microbes kind of like hydrogen peroxide is to you – just stay away from it and you’ll be fine.

But early life also needed carbon. It turns out that a great way to get hold of carbon is to breath in CO2 and use energy from photosynthesis to break the C and O apart. The first microbes to do this were blue-green algae. Probably forming slimey mats over damp rocks a couple of billion years ago the algae began to gradually break apart the CO2 in the atmosphere. It was slow, but all that oxygen began to accumulate. Life that had previously existed quite happily in the oxygen free atmosphere was poisoned. Naturally, being poisoned was terrible news for most of the early life forms on Earth. Forced to either adapt or perish there were big changes in the species present on the surface of the Earth. All because of some unassuming and at first glance entirely unremarkable algal mats.

Blue-green algae in Shark Bay today. Not much to look at but they’ve entirely changed the course of Earth’s history. Photo credit Paul Scullion via Flickr

Energy for us all

But that terrible news for all those microbes was great news for others. You may have noticed that as a human your lifestyle requires more energy than that of slimey mould growing on a rock. While oxygen is a poison to those that can’t use it, if you can use it then it is a supercharged turbo fuel. Reactions that use oxygen can give you about ten times as much energy as the next best reactions that life can use. This abundance of energy enabled life to diversify. Over the next couple of billion years life grew increasingly complex, multicellular and eventually led to you. All these changes couldn’t have happened without the extra energy from oxygen and so we owe our existence today to algae that flourished so long ago.

 

For a longer overview of some of the ways life has shaped the Earth and vice versa SciShow have a series of short videos on the topic starting here.


Must. Publish. Now.

Type ’til your fingers give up. By olle svensson via Flickr

It is no secret that publishing papers is the key to promotion, to funding, to establishing yourself in the scientific communities and make a name for yourself. Publishing is such an important part of science and I don’t think you can emphasize enough how important sharing knowledge is. But is it possible that publishing has become more of a race rather than sharing. The pressure on scientists is high. You want to be published. The more you’ve published, the more doors opens. Some countries have a cash price for publications, while in other countries, it is expected of you to publish X-number of papers each year to keep your job.

Publish-ception

Recently, a paper was published about tendencies in publishing looking into specifically the ‘hyperprolific’ authors. They defined ‘hyperprolific authors’ as individuals who would release at least 72 papers a year. That’s equal to a new paper every 5th day! It sounds insane and completely impossible. However, they found more than 9000 (!!) individuals who in the years 2002-2016 had published at least 72 papers within a year, where several had done it for multiple years.

After a few exclusions such as the entire field of physics (86% of the hyperprolific authors), they found themselves with a pool of 265 people, who they identified as hyperprolific.

In 2002 there were 4. In 2016 there were 81

With the increase in hyperprolific authors, I can’t help but wonder if it is caused by a rush on researchers to publish, or if it is an expression of more collaborations or something completely different. According to the paper, there is a tendency that if an individual were promoted to professor or a similar leadership role, this person had an increase in publications, reaching the hyperprolific threshold.

To me, that makes good sense. When you’re a lab head, you are probably involved in all projects happening on your watch, so naturally you contribute in some way. But does that entail authorship per se?

I remember how excited I got when I was offered a co-authorship on an article. My supervisor and the PhD student I was working with thought it was appropriate to include me, as I had contibuted significantly to the experiments and analysis of data. I couldn’t believe it. But was it justified that I was an author? I was just in my final year of my undergrad degree and honestly, I didn’t know any rules about publishing. I was just thrilled; it was giving me a head start.

Imagine publishing 72 papers a year. Releasing just one seems borderline impossible sometimes. By Sebastien Wiertz via Flickr.

So, what are the rules of publishing?

There are no rigid rules that you, as an author, must comply to. There are guidelines, traditions and common sense. Depending on your field, assessing what an authorship entails can be different. In the field of medicine, the International Committee of Medical Journal Editors have established the Vancouver Criteria for publications which has four criteria. Please note that they RECOMMEND that you follow those criteria.

  • Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; AND
  • Drafting the work or revising it critically for important intellectual content; AND
  • Final approval of the version to be published; AND
  • Agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
(Guidelines are taken directly from ICMJE’s webpage)

 

While this does not seem like a huge demand, when asked, some of the hyperprolific authors of 2016 (who responded), admitted they had not met all criteria. But at the same time, these criteria do not consider mentorship or supervision as enough to be considered an author, which I personally thought would be considered reasonable contribution.

Now, there is probably nothing wrong with any of the papers from the hyperprolific authors, not more than what’s wrong with any other paper by any other author. But being able to publish, without meeting all criteria point towards a flawed system. Who even checks if we’re meeting criteria? And how? If no one is checking anyway, we might as well just bend the ‘rules’ in our favour… or what? Especially if we’re under the ‘Must.Publish.Now’-pressure.

Take a bow

For the individuals who are hyperprolific authors, or for those of you who’ll become one of them, I bow down. Well done. That said, there should probably be a more uniform method to determine what an authorship entails, at least in neighbouring fields. Otherwise, the value of being an author might just fade, if it doesn’t take much to become one. And if we’re publishing just for the sake of publishing, then what’s the point?

(PS. In case you were wondering, I did meet all the criteria when I published, phew)

Read the paper “Thousands of scientists publish a paper every five days” here.


Which types of muscle fibres are you made of?

Have you ever wondered why some people are able to run much faster than you? And why some can run for much longer without getting tired?

It may be due to the different types of muscle fibres that we have.

Muscle fibre types can influence how well you perform in the gym. Photo by Brad Neathery on Unsplash.

Different Types of Muscle
Our muscles are comprised of different types of fibres, each with different mechanical and biological properties. These muscle fibres have been separated into two main categories based on how quickly they contract: Type I, slow twitch or Type II, fast twitch. Fast twitch muscle fibres can then be further divided into Type IIa and Type IIx fibres. To keep it simple we’ll stick to the main two categories.


Diagram of the different muscle fibre types by John Nguyen. Created with BioRender.

What are slow twitch muscle fibres?
As their name suggests, these muscle fibres contract slowly and are fatigue-resistant. These fibres are great for endurance exercises because they are able to efficiently generate energy from oxygen. In addition, they can be relied upon to work non-stop for hours, and when trained for years will still remain slim.

What are fast twitch muscle fibres?
In comparison, type II fibres contract much faster, but at the cost of fatiguing quickly. These fibres are useful for quick, explosive movements and use the phosphocreatine and anaerobic glycolysis systems to generate energy. These systems cannot be sustained over long periods of time, which is why we often end up out of breath and feel our muscles burn after a sprint! When trained they will become larger and bulkier.

Your athletic performance could be affected depending on the proportion of slow and fast twitch muscle fibres you have!

A Case Study
Let’s take a look at these two world-class athletes, Usain Bolt (sprinter) and Dennis Kimetto (marathon runner).

Comparison of Usain Bolt and Dennis Kimetto side by side. (Left) Photo taken by Richard Giles on Wikimedia Commons. (Right) Photo by Matt Buck on Flickr.

Studies conducted on professional athletes have found that they can have as much as up to 80% of a fibre type. This is due to a combination of great genetics and hard training.

Therefore, Bolt’s composition is likely to be around 20/80 of slow to fast twitch fibres. This muscle fibre make-up helps him run short distances (e.g. 100m or 200m) in the quickest time possible. His upper body also appears more muscular as it is important in maintaining balance and stability, which allows for the effective transfer of power from the legs.

In contrast, Kimetto’s composition is likely the opposite, with around an 80/20 composition of slow to fast twitch fibres. He also appears much thinner and leaner because he needs to carry his weight over long distances (e.g. 30-40km). Any excess weight from fat or muscle will cost him more energy!

So, what about me?
By now you’re wondering about the composition of your muscles. For most of us, we will have a genetically pre-determined composition ~50% of both slow and fast twitch fibres. If you’re an athlete, then perhaps you could add a few percentages either way. But there’s no way of knowing exactly what your composition is unless you get a muscle biopsy and count your fibres under a microscope!

It’s also important to note that muscle fibre type composition is only one factor in determining your athletic performance. There are many other factors that you could focus on improving such as mental state, diet and training!

 

 

 

 

 

 

 

 

 


Fetal alcohol syndrome-but what is exactly?

Pregnancy, alcohol- what are the risks?

Fetal alcohol spectrum disorder is an umbrella term to describe a range of neurological and physical impairments that may result from drinking alcohol during pregnancy. Within this spectrum there are many different variants which include Fetal alcohol syndrome (FAS), alcohol related neurodevelopmental disorder and/ or birth defects, to name a few.  The effects are lifelong and can affect cognitive, behavioural and learning outcomes of the unborn child.

The greatest risk for mum’s to be is to those who drink during the first trimester, which is the first 12 weeks of pregnancy. Alcohol consumed during this time can affect the growing baby’s brain. This can result in children having smaller sized brains. The picture below gives a more detailed view of what brain structures can be affected by alcohol and the problems that may occur:

 

Reproduced from: https://fasdlearningwithhope.files.wordpress.com/2015/03/brain_nofas.jpeg

Drinking alcohol during the first trimester can also affect the baby’s facial feature. These includes one or more of the following: Small eyes, thin lips and a smooth area between the lip and the nose. But interestingly NoFASD Australia also states that, 83 per cent of people living with FASD actually don’t display these facial features. More FASD facts can be found at: https://www.nofasd.org.au/28-fasd-facts-for-health-professionals/.

Image Reproduced from https://step2.medbullets.com/pediatrics/120599/fetal-alcohol-syndrome

How much alcohol is too much?

Sadly, there is no right answer for this. But what is known, is that alcohol related harms to the unborn babe can happen at any time during pregnancy. Alcohol can pass freely from the mother to the unborn child through the placenta. The placenta during pregnancy provides all the nutrients and oxygen to meet the growing baby’s needs. This is a sobering thought;( pardon the pun) which in turn can lead to higher alcohol levels in the unborn babe. A developing baby’s liver, is just that, a liver that is growing and developing. This means that it is unable to process alcohol in the same way an adult can. Sadly, if you drink, so does your baby.

Can small amounts of alcohol harm my baby?

Whilst heavy drinking carries the most risk, research has shown that even small amounts of alcohol can cause harm. Unfortunately there are still many old wives tales which suggest that drinking after the first trimester; even in small amounts is okay. Presently, there are no studies which can give a safe amount of alcohol during pregnancy. Even the occasional alcoholic beverage may cause harm.

Image reproduced: By antoniodiaz; Shutterstock

Surely my beer or wine is okay?

Sadly, all alcohol is the same. Whether you drink wine, beer or a seasoned spirit drinker, it is all alcohol. They all pose the same risk to your baby.

No pressure please, I have a bub on board. Thank you for understanding.

The ‘What women want to know project’ have many great resources to help women make fully informed choices. As a community our best offense for preventing FASD is a great defence-through supporting women to make the best decisions they can for themselves and their unborn babies. This begins by creating a community that can help empower women to create the best start for their babies- no pressure please, I have a bub on board.Thank you for understanding.

 

More information:

http://https://www.youtube.com/watch?v=T47kOz_B1ig#action=share

Nofasd Australia: https://www.nofasd.org.au/

 


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