Alpha-1: Short for alpha-1 antitrypsin deficiency.
Showing posts with label short. Show all posts
Showing posts with label short. Show all posts
Wednesday, July 15, 2009
Wednesday, July 1, 2009
Definition of Acute illness
Acute illness: A disease with an abrupt onset and usually a short
course.
course.
Sunday, June 28, 2009
Achondroplasia: The most common form of short stature with disproportionately short limbs -- dwarfism with short arms and legs. Achondroplasia is caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3), which is located on chromosome 4 in chromosome band 4p16.3.
Aside from short arms and legs, the fingers are short and the
ring and middle fingers diverge giving the hand a trident (three-
pronged) appearance. There is a typically large head with prominence of the forehead (frontal bossing), underdevelopment (hypoplasia) of the midface with cheekbones that lack prominence, and a low nasal bridge with narrow nasal passages. The brain is normal and intelligence is entirely normal in achondroplasia. However, the complications of achondroplasia can impinge on the brain and the spinal cord.
Achondroplasia is inherited as an autosomal dominant trait
affecting boys and girls equally. The parents of children with
achondroplasia are more often than not normal. Most cases of
achondroplasia are due to new mutations that appear for the first
time in the affected children.
Achondroplasia can be diagnosed before birth by molecular means.
The limited number of changes in the FGF3 gene responsible for achondroplasia and the ease with which they can be detected provide the basis for a simple method for prenatal diagnosis.
Aside from short arms and legs, the fingers are short and the
ring and middle fingers diverge giving the hand a trident (three-
pronged) appearance. There is a typically large head with prominence of the forehead (frontal bossing), underdevelopment (hypoplasia) of the midface with cheekbones that lack prominence, and a low nasal bridge with narrow nasal passages. The brain is normal and intelligence is entirely normal in achondroplasia. However, the complications of achondroplasia can impinge on the brain and the spinal cord.
Achondroplasia is inherited as an autosomal dominant trait
affecting boys and girls equally. The parents of children with
achondroplasia are more often than not normal. Most cases of
achondroplasia are due to new mutations that appear for the first
time in the affected children.
Achondroplasia can be diagnosed before birth by molecular means.
The limited number of changes in the FGF3 gene responsible for achondroplasia and the ease with which they can be detected provide the basis for a simple method for prenatal diagnosis.
Tuesday, June 23, 2009
Definition of Abortive
Abortive: The word "abortive" has a number of meanings including prematurely born; fruitless or unsuccessful; imperfectly formed or developed; tending to cut short.
In everyday language, the sense of "abortive" to mean prematurely born, as "an abortive child," is largely obsolete today. The main meaning of "abortive" in ordinary English is fruitless or unsuccessful, as an "abortive enterprise" or an "abortive effort."
In biology, "abortive" means imperfectly formed or developed or rudimentary as, an "abortive organ."
In medicine, "abortive" has two meanings: one, causing abortion, as an "abortive medicine," is rarely used nowadays; the other meaning, that of tending to cut short is quite commonly used in medicine, as in the "abortive treatment of typhoid fever" or "abortive polio": polio cut short.
In everyday language, the sense of "abortive" to mean prematurely born, as "an abortive child," is largely obsolete today. The main meaning of "abortive" in ordinary English is fruitless or unsuccessful, as an "abortive enterprise" or an "abortive effort."
In biology, "abortive" means imperfectly formed or developed or rudimentary as, an "abortive organ."
In medicine, "abortive" has two meanings: one, causing abortion, as an "abortive medicine," is rarely used nowadays; the other meaning, that of tending to cut short is quite commonly used in medicine, as in the "abortive treatment of typhoid fever" or "abortive polio": polio cut short.
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