Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Impact of Williams syndrome on healthcare
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Impact of Williams syndrome on healthcare
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome. Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
... middle of paper ...
...consequences of having Williams Syndrome. Some examples would be that a type of cardiovascular disease will soon follow Williams Syndrome called Supravalvular Aortic Stenosis. Resulting ones largest blood vessel to get narrower and narrower causing the person to catch ones breath very often even if not exercising , abdominal pain, and sometimes if fatal heart failure. Furthermore Williams Syndrome is not a disorder that is to be thought of kindly. Just because it occurs 1 in 10,000 people does not mean it is not deadly. It has been estimated that 82 percent of people who die of Supravalvular Aortic Stenosis disease (a disease that follows Williams Syndrome) are 65 and older. And b2cause there are no cures for William syndrome even with the help of today’s modern science and technology people with it must be monitored and treated for symptoms throughout their lives.
The primary concern for Mr. Miller would be preventing further ischemia and necrosis of the myocardial tissues, preventing serious complications such as cardiac dysrhythmias and heart failure, as well as relieving his chest pain that radiates to his left arm. Preventing further ischemia and necrosis of the myocardial tissue will help prevent the development of heart failure due to myocardial infarction, whereas relieving his pain will help reduce his episodes of shortness of breath, and will also help to reduce any anxiety and restlessness he may be having from being in pain and short of breath.
As said before DMD weakens the diaphragm and intercostal muscles. These muscles aid in respiration, therefore he has a difficult time expanding his lungs making him prone to infections. Also, since he cannot control his respiratory muscles it may cause him to swallow food and aspirate it into his lungs creating obstructions in his respiratory tract. There may be a lot of different pulmonary infections James is going to be prone to because of this.
The Supreme Court of Canada. Judgement by McLachlin J. Also present: Lamer C.J. and L’Heureux Dubé, Gonthier, Cory, Iacobucci, Major, Bastarache and Binnie JJ.
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
Williams, R. (2005, 10 22). []. Social anxiety disorder: Miami dolphin Ricky Williams., Retrieved from http://usatoday30.usatoday.com/community/chat/2002-10-22-williams.htm
Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013). Hearing loss, abnormalities with pigmentation of hair, eyes, and skin and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments of the symptoms of it as well.
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
According to Tortora some of them include: coronary artery disease, myocardial infarctions, long-term high blood pressure, congenital defects, heart attacks, and conditions that overwork the heart. (Tortora, 2014, pg.724)
The main characteristics of this syndrome is low muscle tone, short stature, incomplete sexual development, cognitive disabilities, behavioral problems and excessive hunger that can lead to life threatening obesity. In-utero, PWS results in reduced fetal movement, frequent abnormal fetal position and occasional excessive amniotic fluid. At birth, PWS often results in lethargy, hypotonia, feeding difficulties, difficulty in establishing respiration and hypogonadism. Young children demonstrate late acquisition of major motor milestones for example, sitting at 12 months, walking at 24 months. Children aged 1-6 years present with symptoms of hyperphagia with progressive development of obesity. Short stature is generally present followed by lack of pubertal growth spurt and
A family from the U.S.A. could not bare a child passed the age of six. The mother had a disease called leigh syndrome. This is a progressive neurological disorder that produces a loss of movement and mental function. Most children during childhood. Leigh syndrome has an extremely high mortality rate, but U.S. scientists found a way to cheat the facts. But is this “cheat” or risk beneficial, or concerning to society?
We live in a world with advanced sciences and technology, but the cause and prevention of this syndrome is unknown. Sadly there is no tests that can detected the if the child is born or will develop this syndrome. Parents should always learn and be aware of the risks of this syndrome. I believe that with more research there will be a soon an explanation for this syndrome. I hope it is found soon because no parent should suffer from losing a
This was a well-informed post of Alzheimer’s disease and how the family is coping with it. Moreover, why does the children feel they have done enough, when the mom is still getting infections and falling? I believe they aren’t doing anything at all. For example, if the children would put the mom on a routine and make sure her medicines are in plain sight to take them. Additionally, not all the pills, but the dosage she needs to take while they’re away. Her falling may be a call for attention, which I believe she deserves. As a mom, I want my kids to be there for me when I’m old and dependent. I will definitely teach them to help the elderly as much as they can because one day you’ll get old and need help. At time, elderly don’t
Couch, D., Liamputtong, P., & Pitts, M. (2012). What are the real and perceived risks and
Genetic disorders are abnormalities of the human body, caused by mutations in DNA. These mutations are random, unless caused by the environment. There are three categories of genetic disorders: single-gene disorders, chromosome abnormalities, and multifactorial disorders. As said by Richard Twyman, “Single-gene disorders are caused by defects in one particular gene, and often have simple and predictable inheritance patterns (http://genome.wellcome.ac.uk/, 2003). ”