World Health Day 24

Six Rare Conditions

To acknowledge World Health Day we shine a spotlight on six rare diseases. As the designers and manufacturers of the Hypoxystation we thought this would be a great way to celebrate the day, as research into most of these conditions would require cell/tissue lines.

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Adie Syndrome Adie Syndrome is a condition characterised by larger than normal pupils that fail to restrict light and loss of deep tendon reflexes (e.g., the patellar reflex). Although idiopathic, the pupil failures are believed to be due to ciliary ganglion damage, whilst tendon reflex failure is believed to be due to tendon reflex damage.
	Björnstad Syndrome Björnstad Syndrome is an autosomal recessive disease caused by mutations in the BCS1L gene. Increased reactive oxygen species production damages hair follicles and cells of the inner ear. Ultimately, bilateral deafness (to different severities) and hair loss are the result of this condition.
Maffuci Syndrome Maffuci Syndrome is characterised by benign cartilage overgrowth, skeletal deformities and lesions composed of abnormal blood vessels. This is mostly seen in the ankles and lower part of the limbs. It is caused by a somatic mutation, and not a germline mutation, of the IDH1 gene, so is not hereditary. Development of the condition usually occurs at 1 to 5 years old.
	Fascioliasis This is caused by a parasitic infection of Fasciola spp. after ingesting contaminated food. After infection, mature liver flukes (worms) reside in the bile duct, and can be there for a few months before symptoms occur, which include gastrointestinal pain, nausea and jaundice.
Schindler Disease Schindler Disease is caused by deficient activity of the enzyme α-Nacetylgalactosamindase, which causes issues with lysosomal activity. This leads to an accumulation of compounds such as glycoproteins. It mostly produces neurological symptoms such as developmental regression.
	Ogilvie Syndrome Described in 1948 by Sir William Ogilvie, this condition is characterised by defects in peristalsis in the colon. This leads to digestive issues as it prevents propulsion of food, etc. Through the digestive system. It mimics the presence of a mechanical blockage, such as a tumour, but this is not the case - no physical obstruction is present.
	Credit: NORD Rare Disease Database. https://rarediseases.org/