XLH in pictures: why GPs need to know about this inherited condition
A short video explainer on diagnosis and management in primary care
Tag: Genetics
Why one in five people are asymptomatic with COVID-19
One aspect of the pandemic that has fascinated both scientists and the public alike is how the infection affects people differently. I’ve previously discussed the…
Genetic ‘shield’ may explain asymptomatic COVID-19 cases, scientists say
Australian and US researchers have discovered a genetic link that may explain why some people remain asymptomatic after SARS-CoV-2 infection. The research shows a person…
Spot Dx — What’s behind this infant’s rash?
Maddy, a six-week-old infant, is brought in for review by her foster parents. They are concerned about a recurrent blistering leg rash that they believe…
What really killed Beethoven? Centuries-old hair samples shed light on mysteryÂ
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…
