Pathology

Gilbert Syndrome

Spoiler alert! Avoid your eyes if you haven’t seen Kung Fu Panda before. Return to the dark cave from whence you came.

Just as Oogway becomes dust, red blood cells die and puff out bilirubin. This is shunted to the liver, which does the necessary cleaning job, removing the unwanted bilirubin from the bloodstream through glucuronidation. This forms conjugated bilirubin. After Liver Kondo has done its thing, the product is pumped out to the intestines, then away it goes.

Gilbert Syndrome is an autosomal recessive condition where the UGT1A1 gene is most commonly affected. This gene makes an important enzyme for the bilirubin detoxifying process, so the result is raised bilirubin. Specifically, it would be unconjugated hyperbilirubinaemia and possibly jaundice, often not requiring treatment except in stress-affected situations.

References

  1. Mayo Clinic (2025). Gilbert syndrome. [online] Mayo Clinic. Available at: https://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/symptoms-causes/syc-20372811.
  2. Grant LM, Faust TW, Thoguluva Chandrasekar V, et al. Gilbert Syndrome. [Updated 2024 Oct 5]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470200/.
  3. Hamoud AR, Weaver L, Stec DE, Hinds TD Jr. Bilirubin in the Liver-Gut Signaling Axis. Trends Endocrinol Metab. 2018 Mar;29(3):140-150. doi: 10.1016/j.tem.2018.01.002. Epub 2018 Feb 3. PMID: 29409713; PMCID: PMC5831340. Available from: https://pmc.ncbi.nlm.nih.gov/articles/PMC5831340/.
  4. MedlinePlus (n.d.). UGT1A1 gene: MedlinePlus Genetics. [online] medlineplus.gov. Available at: https://medlineplus.gov/genetics/gene/ugt1a1/.

Of Mice And Men Inoculating Mice With Viruses

In an experiment involving the ever-unfortunate mice, the following steps occurred:

  • Mice inoculated with influenza virus
  • Th17 cells activated and migrate to respiratory and gastrointestinal systems
    • Both respiratory and gastrointestinal tracts have mucosa, so they are similar in a way
  • Th17 cells produce cytokines IL-17A and IFN-γ
    • These cytokines mess with intestinal bacteria
    • Results in less Lacto-, more Entero-
  • Intestinal injury

References

  1. Racaniello, V. (2014). How influenza virus infection might lead to gastrointestinal symptoms. [online] virology blog. Available at: http://www.virology.ws/2014/12/10/how-influenza-virus-infection-might-lead-to-gastrointestinal-symptoms/ [Accessed 5 Feb. 2020].

Podcast 023: Pathology With Dr Nicky Graf

There are many things that can go wrong in the human body. Luckily, there’s a specialty that studies it: pathology. After all, a tissue diagnosis must be made! The show must go on!

In this episode, Dr Nicky talks about work, microscopes and social interaction in the specialty of pathology.

Podcast

About the guest speaker

Dr Nicky Graf completed her pathology training in 2000, and has been a staff specialist (Anatomical Pathology) at The Children’s Hospital at Westmead since 2001, with a specialty focus of paediatric and perinatal pathology. She has been the department head for the past 10 years (since Oct 2007).

Dr Nicky has a particular interest in paediatric tumour pathology and renal pathology, but covers all areas of paediatric and perinatal pathology practice. Her department is one of three sites (although the largest with regards to case load) servicing the newly created state-wide perinatal pathology service.

Dr Nicky’s interests are reading, spending time with her family, skiing (snow) and travel (recently went to Antarctica – amazing!).

Music credits

Opening and closing themes by Lily Chen.

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].

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!