Glycogen Storage Disease

GSD is a genetic disease characterised by missing enzymes. Inheritance is typically autosomal recessive.

GSD involves disrupted glycogen metabolism. It makes glycogen accumulate or not form properly, so the glycogen cannot be broken down into glucose or stored like normal.

Treatment can include dietary modification.

References

  1. Kinsey, A. W., & Ormsbee, M. J. (2015). The Health Impact of Nighttime Eating: Old and New Perspectives. Nutrients, 7(4), 2648–2662. http://doi.org/10.3390/nu7042648
  2. Johns Hopkins Medicine. (n.d.). Glycogen Storage Disease in Children. [online] Available at: https://www.hopkinsmedicine.org/healthlibrary/conditions/liver_biliary_and_pancreatic_disorders/glycogen_storage_disease_in_children_134,227 [Accessed 23 Jan. 2018].
  3. Cleveland Clinic. (2018). Glycogen Storage Disease. [online] Available at: https://my.clevelandclinic.org/health/diseases/15553-glycogen-storage-disease-gsd [Accessed 23 Jan. 2018].
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Dornase Alfa

Dornase alfa is a mucolytic medication used in the treatment of cystic fibrosis. By cutting apart extracellular DNA, it makes mucus thinner.

References

  1. Genentech. (2018). How Pulmozyme works. [online] Available at: http://www.pulmozyme.com/how-pulmozyme-CF-treatment-works [Accessed 20 Jan. 2018].
  2. Yang, C., Chilvers, M., Montgomery, M., & Nolan, S. J. (2016). Dornase alfa for cystic fibrosis. The Cochrane Database of Systematic Reviews, 4, CD001127.

Types Of Multiple Sclerosis

Time heals all wounds except relapsing-remitting MS.

And primary-progressive MS.

And secondary-progressive MS.

And whole bunch of other age-related illnesses, like glaucoma, age-related macular degeneration and malignancy.

At least time is good for adhesive capsulitis, alternatively known as frozen shoulder!

Multiple sclerosis

MS is a chronic disease involving immune-mediated attacks on the central nervous system. Demyelination causes mayhem.

As a parallel, Guillan-Barre acutely affects the peripheral nervous system. When it’s chronic, it’s called chronic inflammatory demyelinating polymyopathy.

Symptoms

Neurological symptoms ensue after the disease has passed a threshold.

  • Optic neuritis, characterised by painful visual loss in an eye
  • Numbness, weakness
  • Ataxia, spasticity
  • Fatigue
  • Pain
  • Sexual and urinary dysfunction, such as detrusor overactivity causing urgency

Clinically isolated syndrome is a one-off presentation of demyelination that can progress to MS.

Investigations

MRI can show brain lesions.

CSF analysis can show inflammation.

Evoke potential measurement can show demyelination.

Treatment

Ongoing: immunotherapy agents.

Acute relapse: high-dose corticosteroids.

Spasticity: baclofen

Spasms: benzodiazepines

Mobility: fampridine

Paroxysmal symptoms: carbamazepine

Urinary symptoms: oxybutynin

Pregnancy

The risk of MS relapse is lower during pregnancy and higher in the first 3 months after giving birth.

Summary of major demyelinating illnesses

Central nervous system: clinically isolated syndrome (acute), MS (chronic)

Peripheral nervous system: Guillan-Barre (acute), CIDP (chronic)

References

  1. MS Australia. (2001). Types of MS | MS Australia. [online] Available at: https://www.msaustralia.org.au/about-ms/types-ms [Accessed 20 Jan. 2018].
  2. National Multiple Sclerosis Society. (n.d.). Definition of MS. [online] Available at: https://www.nationalmssociety.org/What-is-MS/Definition-of-MS [Accessed 20 Jan. 2018].
  3. Johns Hopkins Medicine. (n.d.). Guillain-Barre and CIDP. [online] Available at: https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/peripheral_nerve/conditions/guillain_barre_and_cidp.html [Accessed 20 Jan. 2018].
  4. Multiple sclerosis. In: eTG complete [Internet]. Melbourne: Therapeutic Guidelines Limited (eTG November 2017 edition); 2017 Nov.

Bulletproof Skepticism

Beware unbalanced, unsustainable diets. Weight loss is not everything. Having an energy intake lower than the energy expended is the general idea of not becoming a bubble of fat, but there are ways to do it that are more conducive to good health than others.

Everything has a recommended intake, from protein to water. Ranges are cautionary rather than absolute, but they still serve as a useful guide.

Meal avoidance for the sake of temporarily shedding kilograms is not recommended, especially when there are arguments for simply eating less or purposely inducing metabolism instead. Deficiency can be dangerous. Conversely, loading too much of a macronutrient can be harmful.

When in doubt, err on the side of common sense; yak butter for breakfast is unlikely to be as healthy as fresh fruit and vegetables.

References

  1. ABC News. (2016). Coffee diet: Doctors issue warning over food regime inspired by ‘energising’ Tibetan butter tea. [online] Available at: http://www.abc.net.au/news/2016-02-01/butter-coffee-diet-promises-to-improve-iq/7128076 [Accessed 19 Jan. 2018].
  2. Gizmodo Australia. (2015). Bulletproof Coffee: Debunking The Hot Buttered Hype. [online] Available at: https://www.gizmodo.com.au/2015/01/bulletproof-coffee-debunking-the-hot-buttered-hype/ [Accessed 19 Jan. 2018].
  3. Nutrient Reference Values for Australia and New Zealand. (2017). Nutrients | Nutrient Reference Values. [online] Available at: https://www.nrv.gov.au/nutrients [Accessed 19 Jan. 2018].
  4. Mawer, R. (2017). What is Carb Cycling and How Does it Work?. [online] Healthline. Available at: https://www.healthline.com/nutrition/carb-cycling-101 [Accessed 19 Jan. 2018].

Why Don’t NSAIDs Cause Malignancy?

Do topical NSAIDs increase the risk of skin cancer? After all, NSAIDs dampen inflammation and immune suppression is a factor that can promote malignancy. The answer is no!

For, on the contrary, research focuses more on the potential of using NSAIDs in the fight against cancer. How can this be?

Think of the mechanism of NSAIDs. They’re non-steroidal anti-inflammatory drugs, meaning they’re medications that reduce inflammation without being from the corticosteroid class.

NSAIDs indirectly inhibit prostaglandin synthesis by directly inhibiting COX enzymes. This provides anti-inflammatory effects and analgesia.

Prostaglandins play a starring role in situations such as fever.

In contrast, other things that are associated with increased malignancy risk have different ways of working.

For example, HIV impacts CD-4 T cells.

Meanwhile, chemotherapy agents have different mechanisms. For example, vincristine disruptively acts on microtubules.

Let’s not forget UV rays, which wreak havoc on the DNA process by inducing mutations.

These are just some of the villains of medicine. Thankfully, there are emerging medications that meet them in combat. But that’s a story for another day!

American Compact Disc

Colles and Smith fractures are both fractures of the distal radius.

Colles fracture

  • Dorsal angulation of the fractured fragment
  • Memory aid: CD

Smith fracture

  • Volar angulation of the fractured fragment
    • Volar means palmar
  • Memory aid: VS almost looks like US, which is quite American

And that’s how an American CD is made.

References

  1. Luijkx, T. and Desai, P. (2018). Colles fracture. [online] Radiopaedia. Available at: https://radiopaedia.org/articles/colles-fracture [Accessed 15 Jan. 2018].
  2. Luijkx, T. and Gaillard, F. (2018). Smith fracture. [online] Radiopaedia. Available at: https://radiopaedia.org/articles/smith-fracture [Accessed 15 Jan. 2018].

You Can’t Lose Fat In A Specific Place If You’re Fat All Over

Scientific research doesn’t support the idea of losing fat from a particular place. This is also known as spot reduction. It is a lie.

Working out a particular muscle area doesn’t dissolve the fat from that region by priority. Rather, a person’s distribution of fat is determined by the mysterious workings of their body. To reduce fat in a specific spot, overall fat has to be reduced.

This doesn’t render targeted exercises useless; what you can do is build and tone a particular muscle group. It means the muscle grows in that place but the fat doesn’t necessarily disappear from it.

Summary

Muscle is an obedient dog. Muscles respond to directed exercise; bulk and tone happen in the places where you exert yourself.

Fat is a lawless cowboy. It cannot be tamed. In contrast to muscle, fat is wild and runs free; it has a secret agenda and reduces according to an overall body distribution plan.

Recommendations

Your problem then becomes that of losing fat overall.

The solution? It’s the usual: diet and exercise.

Eat less. Use portion control. Be less of a hog. Consume protein, fat and carbohydrates in a healthy ratio. Protein:fat:carbohydrates at 20:20:60 is a simple, approximate guide.

Exercise more. Make sweat. Jump around. Burn energy. Go to a gym.

References

  1. Healthline. (2018). Is It Possible to Target Fat Loss to Specific Body Parts?. [online] Available at: https://www.healthline.com/nutrition/targeted-weight-loss [Accessed 12 Jan. 2018].
  2. Yale Scientific Magazine. (2011). Targeted Fat Loss: Myth or Reality?. [online] Available at: http://www.yalescientific.org/2011/04/targeted-fat-loss-myth-or-reality/ [Accessed 12 Jan. 2018].
  3. Nutrient Reference Values for Australia and New Zealand. (2017). Recommendations to Reduce Chronic Disease Risk. [online] Available at: https://www.nrv.gov.au/chronic-disease/summary [Accessed 12 Jan. 2018].