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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
The choroid plexus regulates the production and composition of cerebrospinal fluid (CSF), that provides the protective buoyancy for the brain. [2] [10] CSF acts as a medium for the glymphatic filtration system that facilitates the removal of metabolic waste from the brain, and the exchange of biomolecules and xenobiotics into and out of the brain.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and REP-2 (a REP-1 like protein) both help with the prenylation and transport of Rab proteins. [6] Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. [7]
The arteries of the base of the brain. Posterior inferior cerebellar artery labeled at bottom. The temporal pole of the cerebrum and a portion of the cerebellar hemisphere have been removed on the right side. Inferior aspect (viewed from below).
Cellulitis. Cellulitis looks like a rash, but is actually an infection of the middle layer of skin, says Dr. Yadav. It causes the skin to become diffusely red, swollen, tender, and hot to the ...
The brain is the central organ of the human nervous system, and with the spinal cord, comprises the central nervous system. It consists of the cerebrum, the brainstem and the cerebellum. The brain controls most of the activities of the body, processing, integrating, and coordinating the information it receives from the sensory nervous system ...
Researchers challenge Bruce Lee's cause of death, positing that his brain swelling was caused by low sodium due to chronic elevated water intake. Kidney specialists float a new theory after ...