Friday, April 19, 2019
Williams Syndrome - Genetic Pediatric Illness Research Paper
Williams Syndrome - Genetic Pediatric Illness - Research Paper ExampleAfter some time, A.J. Beuren came crossways his own set of 11 patients who also had the same symptoms as described by Dr Williams in the past. give thanks to his contribution to the study of what was then an unknown complaint, the disease was named after the two men who contributed the most its understanding, Williams-Beuren Syndrome. However, the illness has also come to be known by other illnesses over the years. Physiopedia (2011) lists the other names as followsDr. Aneal Khan M.D., who authored an article regarding Williams Syndrome for Medscape Reference (2011) described the clinical manifestation of the illness to include a hard-hitting facial appearance, cardiovascular anomalies that may be present at birth or may evolve later in life, idiopathic hypercalcemia, and a characteristic neurodevelopmental and behavioral profile. The disease does not count to afflict anyone specific gender, ethnicity, race, o r socioeconomic background. However, it does seem to be most prevalent among children, affecting 7500 of each 20000 births. The most common symptoms of the birth defect according to Dr Rob Hicks (2011) include but atomic number 18 not limited toVarious in-depth studies of the illness link Williams Syndrome to the genetic makeup of an individual. Dr Rob Hicks (2011), author of Williams Syndrome for BBC Health explained that WS upset individuals most often have a defect in the DNA chain of chromosome 7 with astir(predicate) 26 genes deleted from its long arm. Unfortunately, chromosome 7 is one of the most important elements of the human gene as this concomitant gene is tasked with the manufacture of the protein elastin which according to Dr Hicks (2011), is is responsible for providing strength and elasticity to blood vessel walls. Babies born with Williams Syndrome are often underweight upon birth with difficulty in gaining weight and have certain development defects much(preno minal) as speech problems with the ability to speak not becoming present until the age of 3. However, the most concerning numerate of this illness is the widespread Cardiovascular complications associated with it.
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