‘Don’t be scared to treat mitochondrial disease’
First Australian consensus statement for managing complex group of genetic disorders
Tag: Genetics
What really killed Beethoven? Centuries-old hair samples shed light on mystery
A new theory on Ludwig van Beethoven’s death blames his heavy drinking, hepatitis B infection and a predisposition to liver disease based on genetic testing…
The core of the problem
Lee — a 39-year-old male with a history of eczema, asthma and mild scoliosis — presents to his GP with a few weeks of worsening…
SIDS risk ‘four times higher for infants with family history’
Siblings of infants who died of SIDS are four times more likely to die of SIDS themselves, compared with newborns with no family history, data…
Spot Dx — Why did these strange swirls suddenly appear?
Charlie, a two-year-old boy, presents with his parents, who are concerned after he started developing areas of hypopigmentation on his torso and limbs. Test your…
‘One more thing, Doc…’: Is there more to this case than just ADHD?
Tia, a 14-year-old who is accompanied by her mother, requests assessment of suspected ADHD. Both her school and mother report that Tia is oppositional, inattentive,…
Like Goldi-docs, we want our patients’ health ‘just right’
In medical school, I remember being fascinated about the trade-offs that may arise when a genetic susceptibility to one disease possibly reduces the risk of…
Spot Dx — What’s causing these odd-looking eyes?
Charlie is a 41-year-old IT professional who presents with several weeks of progressively worsening bilateral blurred vision. Test your clinical know-how by taking the quiz…
Spot Dx — What does this infant’s startle response signify?
Ariel, aged six months, presents for review and his routine immunisations. His parents describe noticing an exaggerated startle response over the last month. Test your…
Eight-year-old treated for acute coronary syndrome: case
Chinese doctors say the young boy had 'extremely high' LDL-cholesterol levels that refused to budge with statin therapy.
