Partial Chromosome 15 Deletions

Angelman Syndrome

  • Maternal segment of chromosome 15 deleted
  • Angelman because there is no female part
    • Maternal genetic deletion
  • Happy and flappy

Prader-Willi Syndrome

  • Paternal segment of chromosome 15 deleted
  • Prader-Willi is lacking the paternal part
    • Paternal genetic deletion
  • Fat, dumb, weak and infertile

References

  1. Genetics Home Reference. (2018). Angelman syndrome. [online] Available at: https://ghr.nlm.nih.gov/condition/angelman-syndrome [Accessed 24 Apr. 2018].
  2. Genetics Home Reference. (2018). Prader-Willi syndrome. [online] Available at: https://ghr.nlm.nih.gov/condition/prader-willi-syndrome [Accessed 24 Apr. 2018].
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Podcast 019: Intensive Care Medicine With Dr Stuart Lane

Where do you go if you have multi-organ failure and teeter on the cusp of death? An important three-letter acronym: ICU!

In this episode, Dr Stuart talks about the hectic life of intensive care medicine, being a good doctor and the importance of morals.

Podcast

About the guest speaker

Dr Stuart Lane graduated Medical School at the University of Newcastle-upon-Tyne, UK. He commenced his appointment with Sydney Medical School in 2007, where he is now an Associate Professor, along with his clinical role as a Senior Staff Specialist in Intensive Care Medicine at Nepean Hospital.

Dr Stuart has a strong passion and decorated record for teaching, and has developed a national and international reputation in researching human experience using qualitative methodologies. He is a part 1 and part 2 examiner for the College of Intensive Care Medicine (CICM), NSW CICM Supervisor of training, and deputy chair of the NSW CICM regional committee. He is a keen swimmer and in 2017, he swam the English Channel in 2017, raising $12,500 to assist research into chronic critical illness.

Music credits

Opening and closing themes by Lily Chen.

Abdominal And Hip Signs In Children

There are many signs of peritoneal irritation.

Rovsing Sign

Palpation of the left lower quadrant elicits pain in the right lower quadrant.

Indication: suspected appendicitis, peritoneal irritation.

Obturator Sign

Passively flex the supine patient’s hip and knee and internally rotate the hip to elicit pain.

Indication: suspected pelvic appendicitis, irritation to obturator muscle.

Psoas Sign

2 options:

  1. Ask the supine patient to flex the hip against resistance to elicit pain.
  2. Ask the supine patient to roll onto their side and passively extend the hip, which stretches the psoas and elicits pain.

Indication: suspected retrocaecal appendicitis, irritation to psoas muscle.

Galeazzi Sign

Have the infant supine, with the hips at 45 degrees and knees at 90 degrees. Look at the height of the knees for asymmetry.

Indication: suspected hip dislocation or congenital femoral shortening.

McBurney’s Point

Pain at the point 1/3 along the line from the ASIS to the umbilicus.

ASIS means anterior superior iliac spine, not a government spy organisation.

That’s the lateral 1/3 point closest to the ASIS.

Indication: suspected appendicitis.

Dunphy’s Sign

When coughing equals pain.

Indication: suspected appendicitis.

References

  1. Gooding, F. (2018). Rovsing’s sign • LITFL • Medical Eponym Library. [online] LITFL • Life in the Fast Lane Medical Blog. Available at: https://lifeinthefastlane.com/eponymictionary/rovsings-sign/ [Accessed 8 Apr. 2018].
  2. MDforAll (2010). Obturator Sign. Available at: https://www.youtube.com/watch?v=jV80jcnhNtA [Accessed 8 Apr. 2018].
  3. MDforAll (2010). Psoas Sign. [image] Available at: https://www.youtube.com/watch?v=n0a0PCwsVQ4 [Accessed 8 Apr. 2018].
  4. Fulford, D. (2018). Galeazzi Test • LITFL • Medical Eponym Library. [online] LITFL • Life in the Fast Lane Medical Blog. Available at: https://lifeinthefastlane.com/eponymictionary/galeazzi-test/ [Accessed 8 Apr. 2018].
  5. Hardin, D. (1999). Acute Appendicitis: Review and Update. [online] American Family Physician. Available at: https://www.aafp.org/afp/1999/1101/p2027.html [Accessed 8 Apr. 2018].

Caffeine In Asthma

Caffeine is similar to theophylline, which can be used to treat asthma through bronchodilation from smooth muscle relaxation and a reduction in airway responsiveness.

A Cochrane review found that caffeine improves lung function in people with asthma, up to 4 hours.

References

  1. Welsh EJ, Bara A, Barley E, Cates CJ. Caffeine for asthma. Cochrane Database of Systematic Reviews 2010, Issue 1. Art. No.: CD001112. DOI: 10.1002/14651858.CD001112.pub2
  2. DrugBank. (2005). Theophylline. [online] Available at: https://www.drugbank.ca/drugs/DB00277 [Accessed 5 Apr. 2018].

Why You Have To Try For Anything Worth Fighting For

What is the thing that’s most worth struggling for?

For some people, like those in the cartoon world of Disney’s Mulan, it’s a girl.

For some people, it’s travel around the world and the spectacle of standing on a beach at sunrise with friends who make you smile.

For some people, it’s the chance to become better at an important hobby, skill or craft.

For some people, it’s the opportunity to be a good doctor who doesn’t kill patients through malpractice.

Life involves effort. Why must this be so? Why is there no option to stop the exertion yet still be wildly successful?

This can’t happen because it’s a contradiction. You can’t be satisfyingly successful without the tough input that goes into making it happen.

Simply put, no struggle means no achievement. And if something doesn’t take work, it’s not all that satisfying in the end because anyone could have done it.

In fact, the toughest things in life are often the most rewarding because of two reasons. Firstly, the glow of having conquered insurmountable odds is something to be relished in. It feels great to know you’ve done something difficult, because it shows you had what it took to defeat the enemy.

Secondly, that which is correlated with a high cost is frequently that way because the benefit is accordingly high. There could have been countless game characters who walked off and did something utterly mundane. Think of Harvest Moon. Farming might be glamorous to some, but it sure seems like a drag to most. Yet, only Link, Mario and a handful of crazy protagonists like that have made it into the leagues of fame. This is because while everyone else knocked off the easy challenges, all that was left for them were the toughest ones that involved princesses and castles. When everyone else is off doing easy things, the easy becomes common. What’s left to rise above the rest is, by comparison, hard and that’s what makes it all the more spectacular.

It takes work to do things and do them well. This is because there are so many ways life events can go wrong but far fewer ways in which they can go right. That’s why it takes organisation, effort and struggle to sort items in their correct places and to put toys back into the right box.

There are many ways in which you could provide bad management to a patient. You could take a poor history, you could examine them less than thoroughly, you could order the wrong investigations, you could treat them with disrespect, you could act immorally. Yet there’s only one general way in which you would be functioning as a good health care practitioner: by making sure all of these areas were adequately fulfilled.

That’s why there are more possible outcomes in which things fail than in which they succeed. To succeed, a variety of domains have to be met. A whole bunch of conditions have to be fulfilled. Yet, to fail, all it takes is one area falling below the pass mark.

Life and everything important in life is a series of circuits, a complex machine. It’s one where any weak point can cause the entire device to fail, whereas success demands that every part is operating appropriately. This is only one way to do this: work.

If you want to succeed, if you want to live the best life possible, if you want to discover experiences that are rewarding, if you want to win the girl and save the day, you have to invest effort. You have to put in the work.

The beauty of this is that work never fails. Solutions are always possible. If you haven’t found one, you haven’t finished the search yet. As long as you keep trying, you never fail; it’s simply that you haven’t fully succeeded yet. As long as you keep trying, there’s a possibility things will go right. As long as you keep trying, you can achieve your goal.

The only moment you do fail is the moment you stop trying and your fate becomes set. From that time onwards, the world isn’t going to turn in your favour; everything tends towards going wrong, because it’s far easier for things to do that than to go right. Again, there are more ways to fail than to succeed.

Happiness is what people aim for, whether that’s through a contribution to the world or simple self-gratification through riches or reputation, and that takes work. No one owes you that; you have to earn it yourself. You have to take the time, effort and sense of never giving up. You have to take all of that and invest it into sorting things out. That’s how you make things go right; they won’t merely arrange themselves in your favour without you trying.

If you don’t do that, someone else around you will. Then, even by comparison, you’re more prone to fail because others are racing ahead. It’s not enough to say those around you are incompetent colleagues so it excuses you being the same. It means you all lose. If they work hard and you don’t, you still lose and you lose even more compared to your peers.

The only solution is to try. Forever. Always. Doing your best to be the best possible person you can.

Life is only ever going to go more wrong, so it’s up to you to take actions to make it right.

You only live once in this world as it is now, regardless of your mystical beliefs, so you might as well do it right.

After all, you might be reincarnated as a snail next time and then you won’t even have legs. It’ll be impossible for you to be a good doctor if you’re a snail with no legs.

References

  1. Clear, J. (2018). Entropy: Why Life Always Seems to Get More Complicated. [online] James Clear. Available at: https://jamesclear.com/entropy [Accessed 2 Apr. 2018].

Podcast 018: Respiratory Medicine With Dr Lucy Morgan

We all crave love, but first we require oxygen. Lungs are such needy things!

In this episode, Dr Lucy talks about respiratory medicine, pub rock and marriage.

Podcast

About the guest speaker

Dr Lucy Morgan is a staff specialist physician in respiratory medicine. She maintains links to The University Of Sydney and Concord Repatriation General Hospital, where she works as an Associate Professor.

Music credits

Opening and closing themes by Lily Chen.

Three Major Trisomy Disorders

Trisomy 13: Patau syndrome

Trisomy 18: Edward syndrome

Trisomy 21: Down syndrome

Informative, right? Not yet! The real meat, or pseudo-meat if you’re not of a carnivorous sentiment, is in the memorising.

Memory Aids

Arrange these trisomies in order of increasing number: 13, 18, 21.

Then the mnemonic you need is: PED. As in pediatrics! As in children! Which is the patient demographic to whom these congenital trisomies relate.

The prevalence follows a similar trend; Patau syndrome is the most life-threatening but least common and those with Edward syndrome can live a tiny bit longer but not much so, while Down syndrome is more compatible with life and the most common of these three conditions.

Screening Tests

Down syndrome is famously detected through a first trimester screening test:

  • Free beta-hCG
    • Blood test
  • PAPP-A
    • Blood test
  • Nuchal translucency scan
    • Measures nuchal fold thickness, as this is greater in Down syndrome

NIPT is another option. It’s non-invasive prenatal testing that uses the mother’s blood.

Diagnostic Tests

The more definitive options are:

  • CVS
    • Done earlier but presents greater risk to the foetus, because it’s about chopping off a bit of the chorionic villus
  • Amniocentesis
    • Done later at half the risk of CVS, with the downside of the parents having to find out further into the pregnancy compared to CVS

References

  1. The University of Chicago Pediatrics Clerkship. (2018). Trisomy 18 (Edwards), Trisomy 13 (Patau). [online] Available at: https://pedclerk.bsd.uchicago.edu/page/trisomy-18-edwards-trisomy-13-patau [Accessed 31 Mar. 2018].
  2. Pregnancy, Birth and Baby. (2018). Screening for Down syndrome. [online] Available at: https://www.pregnancybirthbaby.org.au/screening-for-down-syndrome [Accessed 31 Mar. 2018].
  3. BabyCenter Australia. (2018). Screening for Down syndrome. [online] Available at: https://www.babycenter.com.au/a1487/screening-for-down-syndrome [Accessed 31 Mar. 2018].