A gene mutation can trigger XLH - a rare, life-long progressive disease. Skeletal deformities, dental problems, and microsomia are just some of its many symptoms. How to treat it?
A young man shows up at emergency with purulent tonsillitis. The examination leads to four suspected diagnoses. Which one would you support?
Currently, only a few hundred of the approximately 7,000 rare diseases have an approved treatment option. Gene therapies play a special role, but how far has research progressed?
A person's biological sex sometimes influences how pronounced a rare disease is. We present some indications and how they differ between the sexes.
What if the body no longer does what it is supposed to? The stiff-person syndrome has serious effects on the muscles of those affected. So far, there is no causal therapy.
The fashion collection "The Unwearable Collection" shows what it means to be affected by GPP. The collection visualises the GPP patients' experiences in an innovative awareness campaign.
Exercise reduces cardiovascular mortality, but in rare cases sudden cardiac death can occur during exercise. How can this risk be minimised?
Doctors who treat infants often spot skin rashes, most of which are harmless. But a rare disease also starts like this - and should be recognised quickly.
Viruses circulate all year round. The fact that there are more people with colds in the cold season has not only to do with staying indoors - but with the temperature in our nose.
Recent data allow a more precise quantification of the malignancy risk of a Janus kinase inhibitor, which has been under discussion for some time.
An infant who received personalised RNA therapy for a genetic form of epilepsy died after developing hydrocephalus. The side effect has been reported in other treatments.
Intoxicating substances are increasingly coming into focus in the treatment of mentally ill people. This upcoming paradigm shift was discussed in a recent neurology congress.
This "Large Language Model" can generate text. Is this a simple memorization or the beginning of reasoning? When confronted with medical MCQs however, LLMs does show limits.
ALS, is also called Charcot disease, after the French neurologist who described it, or Lou Gehrig's disease, after a famous baseball player. It is rare and fast, possibly leading quickly to death.
At the Geneva University Hospitals psychedelic-assisted psychotherapy with LSD, psilocybin, and MDMA enhance therapy effects, or treating PTSD.
Connected objects interact with the physical world via sensors. They generate valuable data to feed artificial intelligence. This "Internet of Things" is permeating through healthcare.
Diagnosis and therapy of refractory coeliac disease is hotly debated. The AGA has commissioned an update of recommendations for action.
New technologies and digitalisation are at the centre of medical debates. Imaging techniques, big data, artificial intelligence and their use in medical practice are topics that are controversial and raise questions.
Complaints against doctors are increasing, leading to the so-called 'defensive medicine', hoping to prevent the risk of legal complaints from patients, or relatives.
Regular consumption of more highly processed foods has been linked (again) to cognitive decline by a large study. More damning data was recently published in JAMA Neurology.