Williams Syndrome Research Paper

Over the weekend, the Buffalo Bills did the unthinkable and released 2015 fifth-round pick running back Karlos Williams. Despite, having an outstanding rookie campaign, where Williams rushed for 517 yards on 93 carries and seven touchdowns. The Bills were not happy with the young running back's commitment to the game.

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

Dr. Daniel Hale Williams was born on January 18, 1856 in Hollidaysburg, Pennsylvania. He was one of the first physicans to perform an open-heart surgery in the United States and founded a hospital with an interracial staff.

A “FISH” (fluorescent in-situ hybridization) test will identify those patients with PWS due to a deletion, but it will not identify those who have PWS by “UPD” (uniparental disomy) or an imprinting error.

For a student with Williams Syndrome they continue to fall behind with development and maturity behind their peers. Students begin to struggle with fitting in because their social skills are less appropriate. Their interests are not as varied as their peers which makes it a greater challenge socially. Students can have increased anxiety and depression and they “don’t understand why they’re different” (fact sheet). Students with Williams Syndrome have decreasing activity levels, but they continue to acquire new skills.

Because the genetic change is not an inherited disorder but rather due to random error during development, there is no specific race, gender, or regions in the world that are affected more than the other (Cassidy, 2012). The most common abnormality associated with PWS is due to the deletion of the paternal chromosome 15, which is found in approximately 70% of cases. Another possibility is due to maternal uniparental disomy which occurs in about 25% of cases. This is when the child does not inherit the paternal copy of chromosome 15, but instead receives two copies from the mother. The last 5% of cases is another form of genetic imprinting where the father’s chromosome 15 is present, but are not functional known as microdeletion (Griggs, 2015). Although research has narrowed down the region of the affected chromosome, the specific genes that are involved have yet to be found. There are also no solid indicators as to how they play into the development of PWS symptoms (Khor, 2016).

May-Thurner Syndrome is a rare condition,with no symptoms that causes the left iliac vein in your pelvis to narrow or completely be pressed off due to pressure from the right common iliac artery. The iliac vein is the main supply of blood to the left leg. When this vein is put under pressure is causes blood to flow abnormally which can lead to deep vein thrombosis. How will you know if you have MTS?

Nocturnal Animals is a movie written and directed and by the fashion juggernaut Tom Ford, who used capital earned from his brand to fund most of his movies and become a film director. In my opinion, Ford was extremely successful in transferring his artistry and creativity to cross the bridge from the fashion industry taking it to Hollywood.

Individuals with WS will suffer various cardia, vascular and gastrointestinal problems (Wessel et al. 1994, Hallidie-Smith et al., 1998,). They also have some distinctive facial features, including a small upturned nose, long philtrum, wide mouth, full lips, small chin, and puffiness around the eyes (Morris & Mervis, 2000). In infancy, hypercalcaemia as another common feature of WS can cause the symptoms of vomiting, irritability (Black & Carter, 1963), moreover, children with WS usually have the difficulties of feeding and toilet training. In terms of behavioural features, Williams Syndrome is associated with development delay in motor skills and atypical behaviour when they are compared with the topical development children (Sparaci, Stefanini, Marotta, Vicari & Rizzolatti, 2012), for example,

The American revolutionary war is one of the most riveting tales to learn about, especially to a patriotic citizen, sadly it is full of myths and exaggerations and at times outright lies. The very motive for the war has been twisted through the years to make the fight for independence a more beautiful story. In the late 1770’s several important people “found that by creating a nation, a symbol, a legal unity called the United States, they could take over land, profits, and political power from favorites of the British Empire. In the process, they could hold back a number of potential rebellions and create a consensus of popular support for the rule of a new, privileged leadership” (Zinn). This is the true motive behind the fight for independence. Year after year, the fight the “founding fathers” of this country put up against Britain is celebrated and yet the essence of the war is never discussed nor analyzed. The United States is a nation filled with blind patriotism. The inequality in wealth distribution in the United States started in the colonies and continues on today. During Colonial times “the top 5 percent of Boston 's taxpayers controlled 49% of the city 's taxable assets” (Zinn). The poor got poorer and the rich got richer. The poor would speak their grievances to no avail. In the traditional story, every single able-bodied man took up arms to fight the British who were encroaching on colonial homes and rights, but in reality, the majority

Audrey- entering middle school/age 12- Has difficulties in math fluency, math calculations, and applied problems. Difficulties with reading decoding and fluency. She has attention weaknesses that are typical of children with Williams Syndrome. Has difficulties with hands-on learning tasks due to difficulties when visual motor integration is required.

Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a chromosomal abnormality. It is characterized by mild to moderate hyperphagia, severe obesity, intellectual disabilities, and behavioral and psychiatric difficulties. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. It occurs in approximately one in 25,000 to 30,000 live births with no distinguishing sex or race association.

The prevalence of hearing loss has doubled over the past 30 years in the United States and continues to steadily incline as time goes on. Hearing loss itself encompasses a wide variety of disorders, effects many diverse populations, and is caused due to a multitude of different sources (“The Prevalence”). Its onset is also extremely variant and could happen either congenitally or at any point later on in a person’s life. One of these such congenital disorders is Waardenburg syndrome. Waardenburg syndrome is a genetic disorder characteristized by four different types of specific disorders that are further differentiated by their physical attributes and genetic causes. It’s estimated that about 1 in 40000 people are diagnosed with this disorder

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