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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.
Treatment consists of three phases of immunotherapy: 1. Acute phase: IV steroids (methylprednisolone 1 mg/kg) for 3–5 days or plasmapheresis are given to restore visual function. [3] 2. Intermediate phase: Oral steroids (typically prednisone 1 mg/kg) with taper are given to stabilize vision. [3] 3.
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 .
A subdural hygroma (SDG) is a collection of cerebrospinal fluid (CSF), without blood, located under the dural membrane of the brain. Most subdural hygromas are believed to be derived from chronic subdural hematomas. They are commonly seen in elderly people after minor trauma but can also be seen in children following infection or trauma.
Elder Care & Central States Research offer free memory screenings for adults 55+ on Mar 19 in Bartlesville. Call (918) 336-8500 to schedule.
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
The brain has a built-in waste removal process - the glymphatic system - that circulates fluid in the brain and spinal cord to clear out waste, according to the scientists.
A 29-year-old man’s debilitating night terrors were the first sign of rare autoimmune disorder that rapidly progressed, landing him in the intensive care unit in a “catatonic state.” Ben ...